ClinVar Miner

List of variants in gene NF2

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 747
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HGVS dbSNP
GRCh37/hg19 22q12.2(chr22:30079458-30082255)x1
GRCh37/hg19 22q12.2(chr22:30090741-30090791)x1
GRCh38/hg38 22q12.2(chr22:29602475-29639153)x1
GRCh38/hg38 22q12.2(chr22:29664957-29713572)x3
NC_000022.10:g.(?_29999982)_(30000107_?)dup
NC_000022.10:g.(?_30077422)_(30077596_?)dup
NC_000022.10:g.(?_30090731)_(30090801_?)dup
NC_000022.10:g.[30057723_30063344del;30063345_30067790del]
NC_000022.11:g.(29668447_29671826)_(29681601_?)del
NC_000022.11:g.(?_29603989)_(29604122_?)del
NC_000022.11:g.(?_29603989)_(29604122_?)dup
NC_000022.11:g.(?_29603989)_(29636886_?)del
NC_000022.11:g.(?_29603989)_(29681611_?)del
NC_000022.11:g.(?_29603989)_(29694812_?)dup
NC_000022.11:g.(?_29603999)_(29604122_?)del
NC_000022.11:g.(?_29603999)_(29604122_?)dup
NC_000022.11:g.(?_29603999)_(29642295_?)del
NC_000022.11:g.(?_29603999)_(29694802_?)dup
NC_000022.11:g.(?_29636741)_(29639222_?)del
NC_000022.11:g.(?_29636741)_(29661349_?)del
NC_000022.11:g.(?_29636741)_(29694812_?)dup
NC_000022.11:g.(?_29639090)_(29639212_?)del
NC_000022.11:g.(?_29642196)_(29642291_?)del
NC_000022.11:g.(?_29654651)_(29654731_?)del
NC_000022.11:g.(?_29658157)_(29661364_?)del
NC_000022.11:g.(?_29668327)_(29678329_?)del
NC_000022.11:g.(?_29668333)_(29671948_?)del
NC_000022.11:g.(?_29671816)_(29671958_?)del
NC_000022.11:g.(?_29671816)_(29678333_?)del
NC_000022.11:g.(?_29673259)_(29673496_?)del
NC_000022.11:g.29600322_29604002del
NC_000022.11:g.29661362_29661364del rs765519341
NM_000268.3(NF2):c.-443-?_*3798+?del
NM_000268.3(NF2):c.-575A>C rs140062784
NM_000268.3(NF2):c.-752G>C rs1800538
NM_000268.3(NF2):c.114+20G>T rs746868503
NM_000268.3(NF2):c.1739_1747delTCACCTTGC rs1060503674
NM_000268.3(NF2):c.363+19C>A rs202225081
NM_000268.3(NF2):c.364-39A>C rs2530664
NM_000268.3(NF2):c.448-17C>T rs190596693
NM_000268.3(NF2):c.675+1G>C rs1555994854
NM_000268.3(NF2):c.810+1G>A rs794728682
NM_000268.4(NF2):c.*1007C>A rs886057350
NM_000268.4(NF2):c.*106C>T rs886057338
NM_000268.4(NF2):c.*1087C>T rs148973148
NM_000268.4(NF2):c.*109G>T rs886057339
NM_000268.4(NF2):c.*1111G>T rs886057351
NM_000268.4(NF2):c.*1159G>A
NM_000268.4(NF2):c.*1208C>T rs2530680
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.*1270T>C rs542927614
NM_000268.4(NF2):c.*1287T>C
NM_000268.4(NF2):c.*1287dup rs886057354
NM_000268.4(NF2):c.*1294T>G rs886057355
NM_000268.4(NF2):c.*1297A>G rs886057356
NM_000268.4(NF2):c.*1320_*1325del rs148703036
NM_000268.4(NF2):c.*1326T>C rs886057358
NM_000268.4(NF2):c.*136G>A rs886057340
NM_000268.4(NF2):c.*1418T>C
NM_000268.4(NF2):c.*1438A>G rs376061969
NM_000268.4(NF2):c.*1439T>C rs886057359
NM_000268.4(NF2):c.*1522C>A rs886057360
NM_000268.4(NF2):c.*1538C>G
NM_000268.4(NF2):c.*1559C>A rs886057361
NM_000268.4(NF2):c.*158T>C rs886057341
NM_000268.4(NF2):c.*1618T>C rs184477204
NM_000268.4(NF2):c.*1624G>A
NM_000268.4(NF2):c.*1640A>C rs138312881
NM_000268.4(NF2):c.*1652G>T rs751068883
NM_000268.4(NF2):c.*1668G>T
NM_000268.4(NF2):c.*1672C>T rs757272448
NM_000268.4(NF2):c.*1736T>A
NM_000268.4(NF2):c.*1737C>A rs886057362
NM_000268.4(NF2):c.*1782T>C rs886057363
NM_000268.4(NF2):c.*1792G>A rs17462054
NM_000268.4(NF2):c.*1823C>T rs190590507
NM_000268.4(NF2):c.*1848C>T rs886057364
NM_000268.4(NF2):c.*189A>C
NM_000268.4(NF2):c.*1904A>G rs73390944
NM_000268.4(NF2):c.*199C>A rs886057342
NM_000268.4(NF2):c.*2003T>G rs886057367
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.*2032dup rs11442202
NM_000268.4(NF2):c.*2039dup rs886057371
NM_000268.4(NF2):c.*204C>T
NM_000268.4(NF2):c.*2068G>T rs886057372
NM_000268.4(NF2):c.*2077C>T
NM_000268.4(NF2):c.*2113C>T rs537244098
NM_000268.4(NF2):c.*2153T>C
NM_000268.4(NF2):c.*2205G>A rs886057373
NM_000268.4(NF2):c.*2206G>A rs886057374
NM_000268.4(NF2):c.*2215A>G
NM_000268.4(NF2):c.*2224A>G rs112175950
NM_000268.4(NF2):c.*2235G>A rs5997506
NM_000268.4(NF2):c.*2245C>G
NM_000268.4(NF2):c.*2266C>T rs563567208
NM_000268.4(NF2):c.*2310C>T rs777037756
NM_000268.4(NF2):c.*2311G>A rs113956497
NM_000268.4(NF2):c.*2332C>T
NM_000268.4(NF2):c.*2365C>T rs765602116
NM_000268.4(NF2):c.*2369T>C rs150581809
NM_000268.4(NF2):c.*2373C>A rs886057375
NM_000268.4(NF2):c.*2396G>T rs886057376
NM_000268.4(NF2):c.*2408G>A rs114416141
NM_000268.4(NF2):c.*2445G>A
NM_000268.4(NF2):c.*2455T>C rs73159090
NM_000268.4(NF2):c.*2468C>G rs1034880
NM_000268.4(NF2):c.*2487A>G rs550207111
NM_000268.4(NF2):c.*2499C>A rs569992376
NM_000268.4(NF2):c.*256T>C
NM_000268.4(NF2):c.*2612T>C
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.*2759G>A rs5763430
NM_000268.4(NF2):c.*2803C>A rs886057377
NM_000268.4(NF2):c.*2841C>T rs142797364
NM_000268.4(NF2):c.*284C>T
NM_000268.4(NF2):c.*2876T>C rs5763431
NM_000268.4(NF2):c.*2911C>T
NM_000268.4(NF2):c.*2922G>A rs112930471
NM_000268.4(NF2):c.*293C>A rs886057344
NM_000268.4(NF2):c.*2999G>C rs886057378
NM_000268.4(NF2):c.*3018C>T rs886057379
NM_000268.4(NF2):c.*3055C>T rs886057380
NM_000268.4(NF2):c.*3083C>T
NM_000268.4(NF2):c.*3107T>G rs886057381
NM_000268.4(NF2):c.*3133A>G
NM_000268.4(NF2):c.*3140G>T rs886057382
NM_000268.4(NF2):c.*3189G>T rs886057383
NM_000268.4(NF2):c.*3208G>A rs117863523
NM_000268.4(NF2):c.*3266C>A rs886057384
NM_000268.4(NF2):c.*3274G>A rs11090576
NM_000268.4(NF2):c.*3298G>T rs886057385
NM_000268.4(NF2):c.*3313A>T
NM_000268.4(NF2):c.*3319del rs372162228
NM_000268.4(NF2):c.*335C>T rs886057345
NM_000268.4(NF2):c.*3443G>T rs886057387
NM_000268.4(NF2):c.*3480T>G rs886057388
NM_000268.4(NF2):c.*354T>C rs1008515
NM_000268.4(NF2):c.*3575G>A rs41278851
NM_000268.4(NF2):c.*359G>A rs572307337
NM_000268.4(NF2):c.*3603A>C rs557359614
NM_000268.4(NF2):c.*3613_*3618del rs755969033
NM_000268.4(NF2):c.*3644C>T
NM_000268.4(NF2):c.*3645G>A
NM_000268.4(NF2):c.*3646C>T rs886057390
NM_000268.4(NF2):c.*3670C>T rs886057391
NM_000268.4(NF2):c.*3671G>A
NM_000268.4(NF2):c.*3715C>A rs886057392
NM_000268.4(NF2):c.*3720C>A
NM_000268.4(NF2):c.*3765G>T
NM_000268.4(NF2):c.*3783T>C rs886057393
NM_000268.4(NF2):c.*388C>T rs777219109
NM_000268.4(NF2):c.*397C>T
NM_000268.4(NF2):c.*420C>T
NM_000268.4(NF2):c.*4G>A rs141099051
NM_000268.4(NF2):c.*503C>T rs191509325
NM_000268.4(NF2):c.*527G>T
NM_000268.4(NF2):c.*52C>A rs370016332
NM_000268.4(NF2):c.*532G>T rs886057346
NM_000268.4(NF2):c.*561C>G rs776610927
NM_000268.4(NF2):c.*573C>T rs543669369
NM_000268.4(NF2):c.*587G>T rs886057347
NM_000268.4(NF2):c.*695C>T
NM_000268.4(NF2):c.*704del rs567370520
NM_000268.4(NF2):c.*720G>A rs184043147
NM_000268.4(NF2):c.*758G>A
NM_000268.4(NF2):c.*768_*769dup rs886057348
NM_000268.4(NF2):c.*801A>G
NM_000268.4(NF2):c.*860C>T
NM_000268.4(NF2):c.*913C>T
NM_000268.4(NF2):c.*937C>T
NM_000268.4(NF2):c.*942C>T
NM_000268.4(NF2):c.*944G>A
NM_000268.4(NF2):c.*957C>T
NM_000268.4(NF2):c.*974C>T rs8140096
NM_000268.4(NF2):c.*977C>T
NM_000268.4(NF2):c.*987C>A rs886057349
NM_000268.4(NF2):c.-110G>C rs1800540
NM_000268.4(NF2):c.-142del rs1569259403
NM_000268.4(NF2):c.-163C>T
NM_000268.4(NF2):c.-18G>A rs201591536
NM_000268.4(NF2):c.-204C>A rs1800539
NM_000268.4(NF2):c.-245C>G rs536438675
NM_000268.4(NF2):c.-246C>G rs56733822
NM_000268.4(NF2):c.-268G>T rs886057335
NM_000268.4(NF2):c.-284C>A rs886057334
NM_000268.4(NF2):c.-320C>T rs886057333
NM_000268.4(NF2):c.1000A>G (p.Met334Val) rs1556000094
NM_000268.4(NF2):c.1003G>T (p.Glu335Ter) rs1601643866
NM_000268.4(NF2):c.1006C>T (p.Arg336Trp)
NM_000268.4(NF2):c.1006dup (p.Arg336fs) rs1601643896
NM_000268.4(NF2):c.1007G>A (p.Arg336Gln) rs587778554
NM_000268.4(NF2):c.100_117del (p.Glu34_Met39del)
NM_000268.4(NF2):c.1012C>T (p.Arg338Cys) rs761795291
NM_000268.4(NF2):c.1013G>A (p.Arg338His) rs768053145
NM_000268.4(NF2):c.1018G>A (p.Ala340Thr) rs780430071
NM_000268.4(NF2):c.1018G>T (p.Ala340Ser) rs780430071
NM_000268.4(NF2):c.1020T>C (p.Ala340=) rs1556000130
NM_000268.4(NF2):c.1021C>T (p.Arg341Ter) rs74315499
NM_000268.4(NF2):c.1022G>A (p.Arg341Gln) rs754087071
NM_000268.4(NF2):c.1022G>T (p.Arg341Leu) rs754087071
NM_000268.4(NF2):c.1037G>A (p.Arg346Lys) rs1556000154
NM_000268.4(NF2):c.1038G>T (p.Arg346Ser)
NM_000268.4(NF2):c.1051C>T (p.Arg351Cys) rs747756728
NM_000268.4(NF2):c.1052G>A (p.Arg351His) rs771675702
NM_000268.4(NF2):c.1053C>T (p.Arg351=) rs1179494821
NM_000268.4(NF2):c.1055C>T (p.Thr352Met) rs764441073
NM_000268.4(NF2):c.1056G>A (p.Thr352=) rs145427713
NM_000268.4(NF2):c.1056del (p.Arg353fs) rs1601644130
NM_000268.4(NF2):c.1059G>C (p.Arg353Ser) rs1379674036
NM_000268.4(NF2):c.105C>T (p.Phe35=) rs976153071
NM_000268.4(NF2):c.1060G>A (p.Asp354Asn) rs1435353346
NM_000268.4(NF2):c.1060del (p.Asp354fs) rs1601644146
NM_000268.4(NF2):c.1065G>C (p.Glu355Asp)
NM_000268.4(NF2):c.1077G>A (p.Arg359=) rs878853923
NM_000268.4(NF2):c.1079T>C (p.Leu360Pro) rs74315492
NM_000268.4(NF2):c.107A>G (p.Asn36Ser) rs372279458
NM_000268.4(NF2):c.107A>T (p.Asn36Ile) rs372279458
NM_000268.4(NF2):c.1088T>A (p.Met363Lys)
NM_000268.4(NF2):c.1088T>G (p.Met363Arg)
NM_000268.4(NF2):c.1092A>T (p.Lys364Asn) rs1601644296
NM_000268.4(NF2):c.10del (p.Ala4fs)
NM_000268.4(NF2):c.1101A>G (p.Ala367=) rs1601644304
NM_000268.4(NF2):c.1103C>T (p.Thr368Ile) rs1556000214
NM_000268.4(NF2):c.1104A>G (p.Thr368=) rs1601644321
NM_000268.4(NF2):c.1105A>G (p.Met369Val)
NM_000268.4(NF2):c.1112A>G (p.Asn371Ser)
NM_000268.4(NF2):c.1113C>G (p.Asn371Lys) rs142459414
NM_000268.4(NF2):c.1113C>T (p.Asn371=) rs142459414
NM_000268.4(NF2):c.111C>T (p.Cys37=) rs1302428933
NM_000268.4(NF2):c.1124T>C (p.Met375Thr) rs1556000763
NM_000268.4(NF2):c.1126C>T (p.Arg376Trp)
NM_000268.4(NF2):c.1127G>A (p.Arg376Gln) rs996964764
NM_000268.4(NF2):c.1127G>T (p.Arg376Leu)
NM_000268.4(NF2):c.1128G>C (p.Arg376=) rs757322524
NM_000268.4(NF2):c.1129T>G (p.Ser377Ala) rs1569305865
NM_000268.4(NF2):c.114+4A>G
NM_000268.4(NF2):c.114+4A>T
NM_000268.4(NF2):c.114+6C>T
NM_000268.4(NF2):c.115A>G (p.Met39Val)
NM_000268.4(NF2):c.1162del (p.Ala388fs)
NM_000268.4(NF2):c.1163C>T (p.Ala388Val) rs587778553
NM_000268.4(NF2):c.1173C>T (p.Thr391=) rs769454739
NM_000268.4(NF2):c.1179G>A (p.Glu393=) rs1601648277
NM_000268.4(NF2):c.1182G>A (p.Glu394=) rs1601648289
NM_000268.4(NF2):c.1183G>T (p.Ala395Ser) rs1601648303
NM_000268.4(NF2):c.1206C>T (p.Ala402=) rs137953976
NM_000268.4(NF2):c.1207G>A (p.Ala403Thr)
NM_000268.4(NF2):c.1209A>G (p.Ala403=) rs1026655770
NM_000268.4(NF2):c.1210G>T (p.Glu404Ter)
NM_000268.4(NF2):c.1212G>A (p.Glu404=) rs748403377
NM_000268.4(NF2):c.1215T>G (p.Ala405=) rs772219612
NM_000268.4(NF2):c.1219C>T (p.Gln407Ter) rs74315501
NM_000268.4(NF2):c.1228C>T (p.Gln410Ter) rs1556000842
NM_000268.4(NF2):c.1229del (p.Gln410fs) rs1601648452
NM_000268.4(NF2):c.122G>A (p.Trp41Ter) rs1555986860
NM_000268.4(NF2):c.1231C>T (p.Arg411Cys) rs773296925
NM_000268.4(NF2):c.1232G>A (p.Arg411His) rs201214090
NM_000268.4(NF2):c.1234A>C (p.Ile412Leu)
NM_000268.4(NF2):c.1248G>A (p.Ala416=) rs759993776
NM_000268.4(NF2):c.1252C>T (p.Arg418Cys) rs765540111
NM_000268.4(NF2):c.1253G>A (p.Arg418His) rs548217466
NM_000268.4(NF2):c.1257G>A (p.Thr419=) rs375969005
NM_000268.4(NF2):c.1257G>C (p.Thr419=) rs375969005
NM_000268.4(NF2):c.1258GAG[2] (p.Glu422del)
NM_000268.4(NF2):c.125_126insG (p.Gly43fs) rs587776564
NM_000268.4(NF2):c.1264G>A (p.Glu422Lys)
NM_000268.4(NF2):c.126A>G (p.Lys42=) rs1601578848
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.1270C>T (p.Arg424Cys) rs763826793
NM_000268.4(NF2):c.1271G>A (p.Arg424His) rs751182657
NM_000268.4(NF2):c.1271G>T (p.Arg424Leu) rs751182657
NM_000268.4(NF2):c.1272C>A (p.Arg424=) rs781241303
NM_000268.4(NF2):c.1273C>T (p.Leu425=) rs142446775
NM_000268.4(NF2):c.1280A>C (p.Glu427Ala)
NM_000268.4(NF2):c.1288G>T (p.Val430Leu) rs1361867592
NM_000268.4(NF2):c.1290G>A (p.Val430=) rs756041768
NM_000268.4(NF2):c.1291C>T (p.Leu431=) rs1297186898
NM_000268.4(NF2):c.1293G>A (p.Leu431=) rs1340711783
NM_000268.4(NF2):c.1298C>T (p.Ala433Val)
NM_000268.4(NF2):c.12C>T (p.Ala4=) rs144477078
NM_000268.4(NF2):c.12_13inv (p.Ile5Val)
NM_000268.4(NF2):c.1300G>A (p.Glu434Lys) rs992662337
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.1303G>T (p.Val435Leu) rs772334382
NM_000268.4(NF2):c.1311A>G (p.Ala437=) rs144628209
NM_000268.4(NF2):c.1317G>A (p.Lys439=) rs1556000937
NM_000268.4(NF2):c.1323T>A (p.Ala441=) rs1556000942
NM_000268.4(NF2):c.132G>A (p.Lys44=) rs1224221346
NM_000268.4(NF2):c.1332_1333AG[1] (p.Glu445fs) rs1601649018
NM_000268.4(NF2):c.1336A>G (p.Arg446Gly)
NM_000268.4(NF2):c.1340+2T>G rs1601649049
NM_000268.4(NF2):c.1340+8G>T rs370604189
NM_000268.4(NF2):c.1340G>T (p.Arg447Met)
NM_000268.4(NF2):c.1341-7C>T rs574718828
NM_000268.4(NF2):c.1342G>A (p.Ala448Thr)
NM_000268.4(NF2):c.1346_1347del (p.Lys449fs) rs1556001351
NM_000268.4(NF2):c.1350G>A (p.Glu450=) rs1231236846
NM_000268.4(NF2):c.1357C>G (p.Gln453Glu) rs1556001358
NM_000268.4(NF2):c.135C>T (p.Asp45=) rs752664255
NM_000268.4(NF2):c.1360C>T (p.Leu454=) rs1274431013
NM_000268.4(NF2):c.1364A>G (p.Lys455Arg) rs1318882444
NM_000268.4(NF2):c.1366C>G (p.Gln456Glu)
NM_000268.4(NF2):c.1373T>G (p.Leu458Arg)
NM_000268.4(NF2):c.1385G>A (p.Arg462His) rs373650983
NM_000268.4(NF2):c.1386C>T (p.Arg462=) rs138354622
NM_000268.4(NF2):c.1387G>A (p.Glu463Lys) rs74315503
NM_000268.4(NF2):c.1387G>T (p.Glu463Ter) rs74315503
NM_000268.4(NF2):c.1391C>T (p.Ala464Val) rs776109136
NM_000268.4(NF2):c.1392G>A (p.Ala464=) rs375819833
NM_000268.4(NF2):c.1395G>A (p.Glu465=) rs1556001388
NM_000268.4(NF2):c.1396C>G (p.Arg466Gly) rs74315504
NM_000268.4(NF2):c.1396C>T (p.Arg466Ter) rs74315504
NM_000268.4(NF2):c.1397G>A (p.Arg466Gln) rs866689896
NM_000268.4(NF2):c.1400G>A (p.Arg467Lys) rs1294032875
NM_000268.4(NF2):c.1413G>A (p.Lys471=) rs1323009570
NM_000268.4(NF2):c.1413_1428del (p.Leu472fs)
NM_000268.4(NF2):c.1416C>T (p.Leu472=) rs148776784
NM_000268.4(NF2):c.142G>A (p.Asp48Asn)
NM_000268.4(NF2):c.1439C>A (p.Thr480Lys) rs145666157
NM_000268.4(NF2):c.1439C>T (p.Thr480Met) rs145666157
NM_000268.4(NF2):c.1440G>A (p.Thr480=) rs774373946
NM_000268.4(NF2):c.1445C>G (p.Pro482Arg) rs766339217
NM_000268.4(NF2):c.1445C>T (p.Pro482Leu) rs766339217
NM_000268.4(NF2):c.1446+5G>T
NM_000268.4(NF2):c.1446+6C>G
NM_000268.4(NF2):c.1446+9G>A rs778709917
NM_000268.4(NF2):c.1446G>A (p.Pro482=) rs753751373
NM_000268.4(NF2):c.1447-7T>C rs1182185192
NM_000268.4(NF2):c.1447-9C>G
NM_000268.4(NF2):c.1447C>G (p.Pro483Ala)
NM_000268.4(NF2):c.1450A>G (p.Met484Val) rs1182896077
NM_000268.4(NF2):c.1451T>C (p.Met484Thr) rs141538143
NM_000268.4(NF2):c.1453A>T (p.Asn485Tyr) rs1601658875
NM_000268.4(NF2):c.1455C>T (p.Asn485=) rs368966931
NM_000268.4(NF2):c.1459A>C (p.Ile487Leu) rs147506929
NM_000268.4(NF2):c.1460T>C (p.Ile487Thr) rs1601658904
NM_000268.4(NF2):c.1463C>T (p.Pro488Leu) rs1173959854
NM_000268.4(NF2):c.1465_1467del (p.Ala489del) rs1601658938
NM_000268.4(NF2):c.1468C>T (p.Pro490Ser) rs776076922
NM_000268.4(NF2):c.1469C>T (p.Pro490Leu) rs765100922
NM_000268.4(NF2):c.1470G>A (p.Pro490=) rs373442542
NM_000268.4(NF2):c.1480G>C (p.Asp494His)
NM_000268.4(NF2):c.1484T>G (p.Ile495Arg) rs1556002511
NM_000268.4(NF2):c.1490G>C (p.Ser497Thr) rs900545157
NM_000268.4(NF2):c.1491C>T (p.Ser497=) rs1556002514
NM_000268.4(NF2):c.1494C>T (p.Phe498=) rs1060504990
NM_000268.4(NF2):c.1500C>T (p.Leu500=) rs758182356
NM_000268.4(NF2):c.1501A>G (p.Ile501Val) rs1315864916
NM_000268.4(NF2):c.1502T>C (p.Ile501Thr) rs767682136
NM_000268.4(NF2):c.1507dup (p.Asp503fs) rs1556002536
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.1517C>G (p.Ser506Cys) rs970051210
NM_000268.4(NF2):c.1522G>A (p.Asp508Asn) rs749326764
NM_000268.4(NF2):c.1522G>T (p.Asp508Tyr)
NM_000268.4(NF2):c.1529A>G (p.Lys510Arg) rs886057337
NM_000268.4(NF2):c.1533T>C (p.Asp511=) rs1601659271
NM_000268.4(NF2):c.1540A>G (p.Met514Val) rs201527155
NM_000268.4(NF2):c.1544A>G (p.Lys515Arg)
NM_000268.4(NF2):c.1547G>A (p.Arg516Gln) rs1569309694
NM_000268.4(NF2):c.1548G>T (p.Arg516=) rs534398531
NM_000268.4(NF2):c.154C>T (p.Arg52Trp)
NM_000268.4(NF2):c.1550T>C (p.Leu517Pro) rs1556002568
NM_000268.4(NF2):c.1557G>A (p.Met519Ile) rs1601659358
NM_000268.4(NF2):c.1574+7A>G rs1601659412
NM_000268.4(NF2):c.1575-2A>G
NM_000268.4(NF2):c.1575-67G>A rs140086
NM_000268.4(NF2):c.1575-6C>G
NM_000268.4(NF2):c.1575-6C>T rs1350177470
NM_000268.4(NF2):c.1575A>G (p.Lys525=) rs1060503673
NM_000268.4(NF2):c.1579G>T (p.Glu527Ter) rs74315505
NM_000268.4(NF2):c.157A>G (p.Thr53Ala) rs1601578990
NM_000268.4(NF2):c.1586T>C (p.Met529Thr) rs780818183
NM_000268.4(NF2):c.15C>G (p.Ile5Met) rs998779035
NM_000268.4(NF2):c.1600C>T (p.His534Tyr)
NM_000268.4(NF2):c.1604T>C (p.Leu535Pro) rs74315493
NM_000268.4(NF2):c.1611G>T (p.Glu537Asp) rs946609084
NM_000268.4(NF2):c.1613A>C (p.Gln538Pro) rs74315494
NM_000268.4(NF2):c.1617C>T (p.Leu539=) rs1556003665
NM_000268.4(NF2):c.1619A>G (p.Asn540Ser) rs774824164
NM_000268.4(NF2):c.1627A>T (p.Lys543Ter) rs878853925
NM_000268.4(NF2):c.162G>A (p.Leu54=)
NM_000268.4(NF2):c.1635A>T (p.Glu545Asp) rs1556003698
NM_000268.4(NF2):c.1638C>T (p.Ile546=) rs774264046
NM_000268.4(NF2):c.1639G>A (p.Glu547Lys) rs199669486
NM_000268.4(NF2):c.1646T>A (p.Leu549Ter) rs1601666156
NM_000268.4(NF2):c.1653G>A (p.Leu551=) rs1601666174
NM_000268.4(NF2):c.1656_1657AG[2] (p.Arg554fs) rs1601666191
NM_000268.4(NF2):c.1660A>G (p.Arg554Gly)
NM_000268.4(NF2):c.1661G>A (p.Arg554Lys)
NM_000268.4(NF2):c.1671T>C (p.Ala557=) rs759780271
NM_000268.4(NF2):c.1675G>T (p.Asp559Tyr) rs917012886
NM_000268.4(NF2):c.1678A>G (p.Ile560Val) rs557347747
NM_000268.4(NF2):c.1683G>A (p.Leu561=) rs758955756
NM_000268.4(NF2):c.1683G>T (p.Leu561=) rs758955756
NM_000268.4(NF2):c.1685A>T (p.His562Leu) rs878853926
NM_000268.4(NF2):c.1688A>G (p.Asn563Ser) rs768303416
NM_000268.4(NF2):c.1693A>T (p.Asn565Tyr) rs1601666359
NM_000268.4(NF2):c.1698C>T (p.Ser566=) rs751987156
NM_000268.4(NF2):c.1699G>A (p.Asp567Asn) rs757586383
NM_000268.4(NF2):c.169C>T (p.Arg57Ter) rs121434259
NM_000268.4(NF2):c.16G>C (p.Ala6Pro) rs1601515753
NM_000268.4(NF2):c.1701C>G (p.Asp567Glu) rs1049732514
NM_000268.4(NF2):c.1702A>G (p.Arg568Gly) rs1318481716
NM_000268.4(NF2):c.1702_1703del (p.Arg568fs) rs755032702
NM_000268.4(NF2):c.1706G>A (p.Gly569Asp) rs781488145
NM_000268.4(NF2):c.170G>A (p.Arg57Gln) rs368773485
NM_000268.4(NF2):c.1712G>A (p.Ser571Asn)
NM_000268.4(NF2):c.1721A>G (p.His574Arg) rs1601666509
NM_000268.4(NF2):c.1722C>T (p.His574=) rs1041539951
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.1733A>G (p.Lys578Arg)
NM_000268.4(NF2):c.1737+1432G>A rs746764835
NM_000268.4(NF2):c.1737+2098A>G rs75296199
NM_000268.4(NF2):c.1737+2T>C
NM_000268.4(NF2):c.1737+9G>A rs1601666607
NM_000268.4(NF2):c.1737G>A (p.Lys579=) rs1569312133
NM_000268.4(NF2):c.1741A>C (p.Thr581Pro) rs1601688849
NM_000268.4(NF2):c.1745T>C (p.Leu582Ser)
NM_000268.4(NF2):c.1749G>A (p.Gln583=) rs201911915
NM_000268.4(NF2):c.1752C>T (p.Ser584=) rs370999558
NM_000268.4(NF2):c.1753G>A (p.Ala585Thr) rs145446060
NM_000268.4(NF2):c.1753G>T (p.Ala585Ser)
NM_000268.4(NF2):c.1762C>T (p.Arg588Ter)
NM_000268.4(NF2):c.1763G>A (p.Arg588Gln)
NM_000268.4(NF2):c.1764A>C (p.Arg588=) rs1601688952
NM_000268.4(NF2):c.1765G>A (p.Val589Met) rs1293851600
NM_000268.4(NF2):c.1767G>A (p.Val589=) rs754168138
NM_000268.4(NF2):c.1774T>C (p.Phe592Leu) rs764972504
NM_000268.4(NF2):c.1776T>C (p.Phe592=) rs1290530587
NM_000268.4(NF2):c.1783C>T (p.Leu595Phe) rs1601689027
NM_000268.4(NF2):c.1786T>C (p.Ter596Gln) rs1569319775
NM_000268.4(NF2):c.179_185del (p.Trp60fs) rs1601579095
NM_000268.4(NF2):c.17C>A (p.Ala6Asp)
NM_000268.4(NF2):c.180G>A (p.Trp60Ter) rs780872661
NM_000268.4(NF2):c.185T>C (p.Phe62Ser) rs121434261
NM_000268.4(NF2):c.186T>C (p.Phe62=) rs373178836
NM_000268.4(NF2):c.193C>T (p.Gln65Ter)
NM_000268.4(NF2):c.196T>A (p.Tyr66Asn) rs772274240
NM_000268.4(NF2):c.1A>G (p.Met1Val)
NM_000268.4(NF2):c.205_211del (p.Lys69fs) rs587776565
NM_000268.4(NF2):c.215T>C (p.Val72Ala) rs1260510937
NM_000268.4(NF2):c.216G>A (p.Val72=) rs1601579272
NM_000268.4(NF2):c.216G>C (p.Val72=) rs1601579272
NM_000268.4(NF2):c.222G>T (p.Trp74Cys)
NM_000268.4(NF2):c.223_240+8del rs1601579295
NM_000268.4(NF2):c.240+15C>T rs200701337
NM_000268.4(NF2):c.240+1G>A
NM_000268.4(NF2):c.240+1G>C
NM_000268.4(NF2):c.240+6G>C
NM_000268.4(NF2):c.240G>A (p.Lys80=) rs1555986950
NM_000268.4(NF2):c.241-5T>C rs1378725834
NM_000268.4(NF2):c.243_248del (p.Leu82_Asp83del) rs777858863
NM_000268.4(NF2):c.246G>A (p.Leu82=) rs371270318
NM_000268.4(NF2):c.251dup (p.His84fs)
NM_000268.4(NF2):c.252T>C (p.His84=) rs374512699
NM_000268.4(NF2):c.255T>C (p.Asp85=) rs375802248
NM_000268.4(NF2):c.25A>G (p.Met9Val) rs1249717688
NM_000268.4(NF2):c.263A>G (p.Lys88Arg)
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)
NM_000268.4(NF2):c.273del (p.Val92fs) rs1555987647
NM_000268.4(NF2):c.274G>A (p.Val92Ile)
NM_000268.4(NF2):c.279C>T (p.Thr93=) rs758722464
NM_000268.4(NF2):c.281T>G (p.Phe94Cys) rs1601583588
NM_000268.4(NF2):c.285_287CTT[1] (p.Phe96del) rs121434260
NM_000268.4(NF2):c.293C>A (p.Ala98Asp) rs1060503668
NM_000268.4(NF2):c.294C>G (p.Ala98=) rs1555987671
NM_000268.4(NF2):c.294C>T (p.Ala98=) rs1555987671
NM_000268.4(NF2):c.296A>G (p.Lys99Arg) rs181794923
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.30del (p.Phe11fs) rs1601515836
NM_000268.4(NF2):c.311A>C (p.Asn104Thr)
NM_000268.4(NF2):c.319_325delinsTAGGATA (p.Glu107_Leu109delinsTer)
NM_000268.4(NF2):c.322del (p.Glu108fs)
NM_000268.4(NF2):c.325C>T (p.Leu109=) rs201603384
NM_000268.4(NF2):c.326T>C (p.Leu109Pro) rs1601583740
NM_000268.4(NF2):c.328G>C (p.Val110Leu) rs1601583759
NM_000268.4(NF2):c.332A>C (p.Gln111Pro)
NM_000268.4(NF2):c.334G>A (p.Glu112Lys) rs781593146
NM_000268.4(NF2):c.342_344ACA[1] (p.Gln115del) rs1601583772
NM_000268.4(NF2):c.343C>G (p.Gln115Glu) rs1350618734
NM_000268.4(NF2):c.345A>T (p.Gln115His) rs746369012
NM_000268.4(NF2):c.347A>G (p.His116Arg) rs371373672
NM_000268.4(NF2):c.349T>G (p.Leu117Val) rs1569281810
NM_000268.4(NF2):c.352T>G (p.Phe118Val)
NM_000268.4(NF2):c.354C>T (p.Phe118=) rs756564761
NM_000268.4(NF2):c.354_356CTT[1] (p.Phe119del) rs1555987732
NM_000268.4(NF2):c.357C>T (p.Phe119=) rs1370689871
NM_000268.4(NF2):c.361C>G (p.Gln121Glu) rs1006294051
NM_000268.4(NF2):c.363+9G>T rs1601583861
NM_000268.4(NF2):c.364-3C>T
NM_000268.4(NF2):c.364-5T>C rs1330676517
NM_000268.4(NF2):c.364-8C>T rs1601589373
NM_000268.4(NF2):c.370A>C (p.Lys124Gln) rs1601589425
NM_000268.4(NF2):c.37_38TC[2] (p.Leu14fs)
NM_000268.4(NF2):c.391A>C (p.Ile131Leu) rs878853927
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.414T>C (p.Ser138=) rs1601589507
NM_000268.4(NF2):c.431dup (p.Tyr144Ter)
NM_000268.4(NF2):c.432C>G (p.Tyr144Ter) rs1060503667
NM_000268.4(NF2):c.433G>A (p.Ala145Thr) rs1185977513
NM_000268.4(NF2):c.435C>T (p.Ala145=) rs955424447
NM_000268.4(NF2):c.436G>A (p.Val146Ile) rs771572024
NM_000268.4(NF2):c.43A>T (p.Lys15Ter) rs1555978356
NM_000268.4(NF2):c.447+1del
NM_000268.4(NF2):c.447+6C>T
NM_000268.4(NF2):c.457T>C (p.Tyr153His) rs1374299963
NM_000268.4(NF2):c.459C>T (p.Tyr153=) rs142972020
NM_000268.4(NF2):c.461_479dup (p.Gly161fs) rs1569293373
NM_000268.4(NF2):c.465C>T (p.Pro155=) rs374911526
NM_000268.4(NF2):c.465del (p.Ser156fs) rs1555992948
NM_000268.4(NF2):c.473A>G (p.His158Arg)
NM_000268.4(NF2):c.478C>T (p.Arg160Trp) rs150667239
NM_000268.4(NF2):c.479G>A (p.Arg160Gln) rs867595517
NM_000268.4(NF2):c.484T>C (p.Phe162Leu) rs1085307593
NM_000268.4(NF2):c.48G>A (p.Arg16=) rs774973059
NM_000268.4(NF2):c.492C>T (p.Ala164=) rs1307586355
NM_000268.4(NF2):c.493C>T (p.Gln165Ter) rs1601611973
NM_000268.4(NF2):c.495A>G (p.Gln165=) rs1601611991
NM_000268.4(NF2):c.497A>T (p.Glu166Val) rs779353677
NM_000268.4(NF2):c.499G>C (p.Glu167Gln)
NM_000268.4(NF2):c.4G>T (p.Ala2Ser) rs1601515682
NM_000268.4(NF2):c.504G>A (p.Leu168=) rs182990439
NM_000268.4(NF2):c.504G>C (p.Leu168Phe)
NM_000268.4(NF2):c.515G>A (p.Arg172Lys) rs752963731
NM_000268.4(NF2):c.516+10T>G rs758073951
NM_000268.4(NF2):c.521T>C (p.Ile174Thr) rs1346860299
NM_000268.4(NF2):c.525T>A (p.Asn175Lys) rs1601613495
NM_000268.4(NF2):c.531T>A (p.Tyr177Ter)
NM_000268.4(NF2):c.542C>T (p.Pro181Leu)
NM_000268.4(NF2):c.543G>A (p.Pro181=) rs139838280
NM_000268.4(NF2):c.544G>T (p.Glu182Ter) rs74315495
NM_000268.4(NF2):c.545A>G (p.Glu182Gly)
NM_000268.4(NF2):c.551G>A (p.Trp184Ter) rs1555993293
NM_000268.4(NF2):c.555G>A (p.Glu185=) rs1293410909
NM_000268.4(NF2):c.556_557GA[2] (p.Arg187fs) rs1555993301
NM_000268.4(NF2):c.558G>C (p.Glu186Asp)
NM_000268.4(NF2):c.560G>A (p.Arg187Lys) rs1234052589
NM_000268.4(NF2):c.563_564del (p.Ile188fs) rs1555993313
NM_000268.4(NF2):c.566C>T (p.Thr189Ile)
NM_000268.4(NF2):c.56C>G (p.Pro19Arg) rs1601515928
NM_000268.4(NF2):c.575A>G (p.Tyr192Cys) rs1555993319
NM_000268.4(NF2):c.576C>T (p.Tyr192=) rs149803133
NM_000268.4(NF2):c.579A>G (p.Ala193=) rs1332985565
NM_000268.4(NF2):c.583_589del (p.His195fs) rs1569294187
NM_000268.4(NF2):c.586C>T (p.Arg196Ter) rs1555993336
NM_000268.4(NF2):c.587G>A (p.Arg196Gln) rs749176138
NM_000268.4(NF2):c.58A>C (p.Lys20Gln)
NM_000268.4(NF2):c.58A>T (p.Lys20Ter)
NM_000268.4(NF2):c.58_61delinsGT (p.Lys20fs) rs1555978369
NM_000268.4(NF2):c.592C>T (p.Arg198Ter) rs1555993345
NM_000268.4(NF2):c.595G>A (p.Ala199Thr) rs1261707371
NM_000268.4(NF2):c.599+40C>T rs1292869497
NM_000268.4(NF2):c.599+5G>A rs1601613749
NM_000268.4(NF2):c.599+6G>T
NM_000268.4(NF2):c.600-2A>G rs1601618501
NM_000268.4(NF2):c.600G>A (p.Arg200=) rs1156687503
NM_000268.4(NF2):c.602A>T (p.Asp201Val) rs1601618525
NM_000268.4(NF2):c.610G>C (p.Glu204Gln) rs1569295916
NM_000268.4(NF2):c.613A>G (p.Met205Val) rs141629512
NM_000268.4(NF2):c.614T>C (p.Met205Thr) rs747871414
NM_000268.4(NF2):c.619T>C (p.Tyr207His) rs1601618565
NM_000268.4(NF2):c.641T>C (p.Leu214Pro) rs1601618585
NM_000268.4(NF2):c.647T>C (p.Met216Thr)
NM_000268.4(NF2):c.652G>A (p.Gly218Ser) rs776818377
NM_000268.4(NF2):c.655G>A (p.Val219Met) rs1555994816
NM_000268.4(NF2):c.656_657insA (p.Asn220fs) rs1555994819
NM_000268.4(NF2):c.658A>T (p.Asn220Tyr) rs1601618646
NM_000268.4(NF2):c.662A>G (p.Tyr221Cys) rs746025177
NM_000268.4(NF2):c.670A>G (p.Ile224Val) rs1555994825
NM_000268.4(NF2):c.673C>T (p.Arg225Trp)
NM_000268.4(NF2):c.675+6T>C
NM_000268.4(NF2):c.675G>T (p.Arg225=) rs1569295986
NM_000268.4(NF2):c.676-104G>A
NM_000268.4(NF2):c.676A>C (p.Asn226His) rs886057336
NM_000268.4(NF2):c.679A>T (p.Lys227Ter)
NM_000268.4(NF2):c.683A>G (p.Lys228Arg) rs145384260
NM_000268.4(NF2):c.685G>T (p.Gly229Cys) rs1028670573
NM_000268.4(NF2):c.691G>C (p.Glu231Gln) rs770019352
NM_000268.4(NF2):c.699G>T (p.Leu233=) rs780003734
NM_000268.4(NF2):c.69C>G (p.Thr23=)
NM_000268.4(NF2):c.69dup (p.Val24fs) rs1601515970
NM_000268.4(NF2):c.705A>C (p.Gly235=) rs749331641
NM_000268.4(NF2):c.713C>T (p.Ala238Val) rs761195572
NM_000268.4(NF2):c.71T>C (p.Val24Ala) rs773714780
NM_000268.4(NF2):c.720G>T (p.Gly240=) rs769348972
NM_000268.4(NF2):c.726C>G (p.His242Gln) rs1480040681
NM_000268.4(NF2):c.72G>C (p.Val24=) rs761062232
NM_000268.4(NF2):c.733G>A (p.Asp245Asn)
NM_000268.4(NF2):c.736C>T (p.Pro246Ser) rs1569297802
NM_000268.4(NF2):c.738_756del (p.Glu247fs) rs1555996156
NM_000268.4(NF2):c.73A>T (p.Arg25Trp)
NM_000268.4(NF2):c.743A>G (p.Asn248Ser)
NM_000268.4(NF2):c.745_752del (p.Arg249fs) rs1601624078
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.758A>G (p.Lys253Arg) rs773573049
NM_000268.4(NF2):c.759G>A (p.Lys253=) rs760272926
NM_000268.4(NF2):c.766T>C (p.Phe256Leu) rs1474769404
NM_000268.4(NF2):c.770C>G (p.Pro257Arg) rs753300935
NM_000268.4(NF2):c.770C>T (p.Pro257Leu) rs753300935
NM_000268.4(NF2):c.771G>A (p.Pro257=) rs759032771
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>T (p.Ile261=) rs765223726
NM_000268.4(NF2):c.784C>T (p.Arg262Ter) rs74315496
NM_000268.4(NF2):c.785G>A (p.Arg262Gln)
NM_000268.4(NF2):c.789C>T (p.Asn263=) rs1555996218
NM_000268.4(NF2):c.78C>G (p.Ile26Met)
NM_000268.4(NF2):c.794C>T (p.Ser265Leu) rs1601624241
NM_000268.4(NF2):c.795G>A (p.Ser265=) rs376609988
NM_000268.4(NF2):c.795G>T (p.Ser265=) rs376609988
NM_000268.4(NF2):c.798C>G (p.Tyr266Ter) rs917257652
NM_000268.4(NF2):c.798C>T (p.Tyr266=) rs917257652
NM_000268.4(NF2):c.810+2T>C rs1601624296
NM_000268.4(NF2):c.810+6A>G
NM_000268.4(NF2):c.810+9T>C rs143794864
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.816T>A (p.Thr272=) rs1555997539
NM_000268.4(NF2):c.817A>G (p.Ile273Val) rs1368184325
NM_000268.4(NF2):c.820A>G (p.Lys274Glu)
NM_000268.4(NF2):c.831T>G (p.Asp277Glu) rs762883753
NM_000268.4(NF2):c.845T>C (p.Val282Ala) rs1601630493
NM_000268.4(NF2):c.849C>T (p.Phe283=) rs1555997567
NM_000268.4(NF2):c.84C>T (p.Thr28=) rs1410448416
NM_000268.4(NF2):c.851A>G (p.Lys284Arg) rs764034925
NM_000268.4(NF2):c.852G>A (p.Lys284=) rs1184031479
NM_000268.4(NF2):c.85A>G (p.Met29Val)
NM_000268.4(NF2):c.861C>T (p.Ser287=) rs143160499
NM_000268.4(NF2):c.863C>G (p.Ser288Ter)
NM_000268.4(NF2):c.872G>A (p.Arg291His) rs755200117
NM_000268.4(NF2):c.874G>A (p.Val292Ile)
NM_000268.4(NF2):c.879T>C (p.Asn293=) rs151198477
NM_000268.4(NF2):c.882G>A (p.Lys294=) rs146166875
NM_000268.4(NF2):c.885+1G>A
NM_000268.4(NF2):c.886-3C>T
NM_000268.4(NF2):c.88G>A (p.Asp30Asn) rs1601516058
NM_000268.4(NF2):c.896T>C (p.Leu299Pro)
NM_000268.4(NF2):c.903C>T (p.Ile301=) rs199957176
NM_000268.4(NF2):c.904G>A (p.Gly302Arg) rs1255367068
NM_000268.4(NF2):c.911A>G (p.His304Arg) rs1555998800
NM_000268.4(NF2):c.912T>C (p.His304=) rs200272173
NM_000268.4(NF2):c.915T>C (p.Asp305=) rs1601636823
NM_000268.4(NF2):c.930A>G (p.Arg310=) rs1408103989
NM_000268.4(NF2):c.932G>A (p.Arg311Lys) rs1169276398
NM_000268.4(NF2):c.933del (p.Ala313fs) rs1601636894
NM_000268.4(NF2):c.939C>A (p.Ala313=) rs747526252
NM_000268.4(NF2):c.939C>T (p.Ala313=) rs747526252
NM_000268.4(NF2):c.940G>A (p.Asp314Asn)
NM_000268.4(NF2):c.947T>G (p.Leu316Trp) rs750633919
NM_000268.4(NF2):c.94G>A (p.Glu32Lys) rs373337083
NM_000268.4(NF2):c.951A>G (p.Glu317=) rs1601636972
NM_000268.4(NF2):c.952G>A (p.Val318Ile)
NM_000268.4(NF2):c.952G>T (p.Val318Phe)
NM_000268.4(NF2):c.956A>G (p.Gln319Arg)
NM_000268.4(NF2):c.958C>T (p.Gln320Ter) rs74315497
NM_000268.4(NF2):c.966A>G (p.Lys322=) rs746175548
NM_000268.4(NF2):c.970C>G (p.Gln324Glu)
NM_000268.4(NF2):c.970del (p.Gln324fs) rs1555998851
NM_000268.4(NF2):c.974C>T (p.Ala325Val)
NM_000268.4(NF2):c.978G>A (p.Arg326=) rs1601637089
NM_000268.4(NF2):c.983A>T (p.Glu328Val) rs200372028
NM_000268.4(NF2):c.992G>C (p.Arg331Thr)
NM_000268.4(NF2):c.993A>G (p.Arg331=) rs1601637132
NM_000268.4(NF2):c.995del (p.Lys332fs) rs587776563
NM_000268.4(NF2):c.999+15G>A rs367716680
NM_000268.4(NF2):c.999G>C (p.Gln333His)
NM_016418.5(NF2):c.-397C>T rs886057332
NM_016418.5(NF2):c.-402A>G rs886057331
NM_016418.5(NF2):c.10-4_*13delinsG rs1556008383
NM_016418.5(NF2):c.1000-212_1000-210del rs4034748
NM_016418.5(NF2):c.1000-4G>A rs200113152
NM_016418.5(NF2):c.1000-7C>G rs776237839
NM_016418.5(NF2):c.1122+1G>A rs1569304774
NM_016418.5(NF2):c.1123-51C>T rs13055076
NM_016418.5(NF2):c.1123-6C>T rs147898623
NM_016418.5(NF2):c.1123-7C>G rs559511611
NM_016418.5(NF2):c.114+6C>G rs1060503671
NM_016418.5(NF2):c.115-256A>C rs2531848
NM_016418.5(NF2):c.1340+6G>T rs914659916
NM_016418.5(NF2):c.1446+1G>A rs1601652425
NM_016418.5(NF2):c.1446+5G>A rs367829184
NM_016418.5(NF2):c.1446+6C>A rs878853924
NM_016418.5(NF2):c.1447-2del rs1556002457
NM_016418.5(NF2):c.1574+4T>C rs1556002586
NM_016418.5(NF2):c.1575-5G>A rs199622889
NM_016418.5(NF2):c.1737+1G>T rs1556003799
NM_016418.5(NF2):c.1737+2T>A rs1556003801
NM_016418.5(NF2):c.240+1G>T rs587776562
NM_016418.5(NF2):c.241-85G>T rs5763378
NM_016418.5(NF2):c.363+1G>A rs1601583839
NM_016418.5(NF2):c.363+3A>T rs1060503669
NM_016418.5(NF2):c.364-291C>G rs2531849
NM_016418.5(NF2):c.364-9T>C rs767658752
NM_016418.5(NF2):c.447+15_447+17del rs1555988797
NM_016418.5(NF2):c.448-4C>G rs760733256
NM_016418.5(NF2):c.448-5T>C rs878853928
NM_016418.5(NF2):c.516+1G>A rs1601612044
NM_016418.5(NF2):c.516+2T>G rs1569293488
NM_016418.5(NF2):c.517-1G>A rs1064796632
NM_016418.5(NF2):c.517-2A>G rs1060503670
NM_016418.5(NF2):c.517-4G>A rs1165155285
NM_016418.5(NF2):c.517-92_568del rs1601613230
NM_016418.5(NF2):c.535A>G (p.Met179Val) rs1601613523
NM_016418.5(NF2):c.599+1G>T rs1555993352
NM_016418.5(NF2):c.599+289G>A rs187607171
NM_016418.5(NF2):c.599+3G>A rs768301915
NM_016418.5(NF2):c.600-13G>A rs374509697
NM_016418.5(NF2):c.600-154G>A rs2071622
NM_016418.5(NF2):c.600-6C>T rs749155274
NM_016418.5(NF2):c.675+1G>A rs1555994854
NM_016418.5(NF2):c.675+49T>C rs148076331
NM_016418.5(NF2):c.676-10G>A rs1601623842
NM_016418.5(NF2):c.676-249G>A rs2857640
NM_016418.5(NF2):c.676-2A>G rs1060503666
NM_016418.5(NF2):c.810+246A>G rs2857641
NM_016418.5(NF2):c.810+8_810+9del rs760095910
NM_016418.5(NF2):c.810_810+2dup rs1569297926
NM_016418.5(NF2):c.885+10G>C rs369317112
NM_016418.5(NF2):c.885+6T>C rs1601630628
NM_016418.5(NF2):c.886-15C>T rs200837904
NM_016418.5(NF2):c.886-205C>T rs2252472
NM_016418.5(NF2):c.9+160T>C rs7291645
NM_016418.5(NF2):c.999+1G>A rs1569302393
NM_016418.5(NF2):c.999+296A>G rs2252587
Single allele

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