NM_000268.4(NF2):c.*4G>A
|
rs141099051
|
0.00165
|
NM_000268.4(NF2):c.12C>T (p.Ala4=)
|
rs144477078
|
0.00115
|
NM_000268.4(NF2):c.1386C>T (p.Arg462=)
|
rs138354622
|
0.00086
|
NM_000268.4(NF2):c.1451T>C (p.Met484Thr)
|
rs141538143
|
0.00082
|
NM_000268.4(NF2):c.1416C>T (p.Leu472=)
|
rs148776784
|
0.00081
|
NM_000268.4(NF2):c.1387G>A (p.Glu463Lys)
|
rs74315503
|
0.00044
|
NM_000268.4(NF2):c.1753G>A (p.Ala585Thr)
|
rs145446060
|
0.00040
|
NM_000268.4(NF2):c.1113C>T (p.Asn371=)
|
rs142459414
|
0.00033
|
NM_000268.4(NF2):c.246G>A (p.Leu82=)
|
rs371270318
|
0.00021
|
NM_000268.4(NF2):c.1639G>A (p.Glu547Lys)
|
rs199669486
|
0.00019
|
NM_000268.4(NF2):c.1749G>A (p.Gln583=)
|
rs201911915
|
0.00016
|
NM_000268.4(NF2):c.613A>G (p.Met205Val)
|
rs141629512
|
0.00016
|
NM_000268.4(NF2):c.107A>G (p.Asn36Ser)
|
rs372279458
|
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.1505G>A (p.Gly502Asp)
|
rs552115565
|
0.00012
|
NM_000268.4(NF2):c.1385G>A (p.Arg462His)
|
rs373650983
|
0.00011
|
NM_000268.4(NF2):c.465C>T (p.Pro155=)
|
rs374911526
|
0.00011
|
NM_000268.4(NF2):c.1445C>G (p.Pro482Arg)
|
rs766339217
|
0.00010
|
NM_000268.4(NF2):c.771G>A (p.Pro257=)
|
rs759032771
|
0.00010
|
NM_000268.4(NF2):c.1206C>T (p.Ala402=)
|
rs137953976
|
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.48G>A (p.Arg16=)
|
rs774973059
|
0.00008
|
NM_000268.4(NF2):c.1392G>A (p.Ala464=)
|
rs375819833
|
0.00006
|
NM_000268.4(NF2):c.1455C>T (p.Asn485=)
|
rs368966931
|
0.00006
|
NM_000268.4(NF2):c.354C>T (p.Phe118=)
|
rs756564761
|
0.00006
|
NM_000268.4(NF2):c.1698C>T (p.Ser566=)
|
rs751987156
|
0.00005
|
NM_000268.4(NF2):c.947T>G (p.Leu316Trp)
|
rs750633919
|
0.00005
|
NM_000268.4(NF2):c.1248G>A (p.Ala416=)
|
rs759993776
|
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.459C>T (p.Tyr153=)
|
rs142972020
|
0.00004
|
NM_000268.4(NF2):c.576C>T (p.Tyr192=)
|
rs149803133
|
0.00004
|
NM_000268.4(NF2):c.662A>G (p.Tyr221Cys)
|
rs746025177
|
0.00004
|
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.1257G>A (p.Thr419=)
|
rs375969005
|
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.705A>C (p.Gly235=)
|
rs749331641
|
0.00003
|
NM_000268.4(NF2):c.783C>T (p.Ile261=)
|
rs765223726
|
0.00003
|
NM_000268.4(NF2):c.912T>C (p.His304=)
|
rs200272173
|
0.00003
|
NM_000268.4(NF2):c.939C>T (p.Ala313=)
|
rs747526252
|
0.00003
|
NM_000268.4(NF2):c.1000-5C>T
|
rs763266359
|
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.1053C>T (p.Arg351=)
|
rs1179494821
|
0.00002
|
NM_000268.4(NF2):c.1077G>A (p.Arg359=)
|
rs878853923
|
0.00002
|
NM_000268.4(NF2):c.1138A>G (p.Thr380Ala)
|
rs1468789751
|
0.00002
|
NM_000268.4(NF2):c.1212G>A (p.Glu404=)
|
rs748403377
|
0.00002
|
NM_000268.4(NF2):c.1299C>T (p.Ala433=)
|
rs749028891
|
0.00002
|
NM_000268.4(NF2):c.1391C>T (p.Ala464Val)
|
rs776109136
|
0.00002
|
NM_000268.4(NF2):c.1488A>C (p.Pro496=)
|
rs1310563343
|
0.00002
|
NM_000268.4(NF2):c.1500C>T (p.Leu500=)
|
rs758182356
|
0.00002
|
NM_000268.4(NF2):c.1699G>A (p.Asp567Asn)
|
rs757586383
|
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.614T>C (p.Met205Thr)
|
rs747871414
|
0.00002
|
NM_000268.4(NF2):c.651C>T (p.Tyr217=)
|
rs367802186
|
0.00002
|
NM_000268.4(NF2):c.683A>G (p.Lys228Arg)
|
rs145384260
|
0.00002
|
NM_000268.4(NF2):c.699G>T (p.Leu233=)
|
rs780003734
|
0.00002
|
NM_000268.4(NF2):c.785G>A (p.Arg262Gln)
|
rs1450914413
|
0.00002
|
NM_000268.4(NF2):c.795G>A (p.Ser265=)
|
rs376609988
|
0.00002
|
NM_000268.4(NF2):c.861C>T (p.Ser287=)
|
rs143160499
|
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.1000-4G>A
|
rs200113152
|
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.1017C>T (p.Leu339=)
|
rs756568857
|
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.1056G>A (p.Thr352=)
|
rs145427713
|
0.00001
|
NM_000268.4(NF2):c.1065G>C (p.Glu355Asp)
|
rs1277506366
|
0.00001
|
NM_000268.4(NF2):c.1112A>G (p.Asn371Ser)
|
rs577940601
|
0.00001
|
NM_000268.4(NF2):c.1116A>G (p.Glu372=)
|
rs2066806303
|
0.00001
|
NM_000268.4(NF2):c.1126C>T (p.Arg376Trp)
|
rs867367858
|
0.00001
|
NM_000268.4(NF2):c.1128G>C (p.Arg376=)
|
rs757322524
|
0.00001
|
NM_000268.4(NF2):c.1173C>T (p.Thr391=)
|
rs769454739
|
0.00001
|
NM_000268.4(NF2):c.1174G>A (p.Glu392Lys)
|
rs1026724985
|
0.00001
|
NM_000268.4(NF2):c.1209A>C (p.Ala403=)
|
rs1026655770
|
0.00001
|
NM_000268.4(NF2):c.1215T>G (p.Ala405=)
|
rs772219612
|
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.1273C>T (p.Leu425=)
|
rs142446775
|
0.00001
|
NM_000268.4(NF2):c.1276A>T (p.Met426Leu)
|
rs926406926
|
0.00001
|
NM_000268.4(NF2):c.1290G>A (p.Val430=)
|
rs756041768
|
0.00001
|
NM_000268.4(NF2):c.1303G>T (p.Val435Leu)
|
rs772334382
|
0.00001
|
NM_000268.4(NF2):c.1311A>G (p.Ala437=)
|
rs144628209
|
0.00001
|
NM_000268.4(NF2):c.135C>T (p.Asp45=)
|
rs752664255
|
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.1413G>A (p.Lys471=)
|
rs1323009570
|
0.00001
|
NM_000268.4(NF2):c.1425T>A (p.Ile475=)
|
rs774818801
|
0.00001
|
NM_000268.4(NF2):c.142G>A (p.Asp48Asn)
|
rs1352608076
|
0.00001
|
NM_000268.4(NF2):c.1440G>A (p.Thr480=)
|
rs774373946
|
0.00001
|
NM_000268.4(NF2):c.1443C>T (p.Tyr481=)
|
rs760224815
|
0.00001
|
NM_000268.4(NF2):c.1445C>T (p.Pro482Leu)
|
rs766339217
|
0.00001
|
NM_000268.4(NF2):c.1446+5G>A
|
rs367829184
|
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.1470G>T (p.Pro490=)
|
rs373442542
|
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.1518T>A (p.Ser506=)
|
rs780287551
|
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.1548G>T (p.Arg516=)
|
rs534398531
|
0.00001
|
NM_000268.4(NF2):c.154C>T (p.Arg52Trp)
|
rs764901064
|
0.00001
|
NM_000268.4(NF2):c.1569A>G (p.Lys523=)
|
rs1194010738
|
0.00001
|
NM_000268.4(NF2):c.1586T>C (p.Met529Thr)
|
rs780818183
|
0.00001
|
NM_000268.4(NF2):c.162G>A (p.Leu54=)
|
rs1369726524
|
0.00001
|
NM_000268.4(NF2):c.1638C>T (p.Ile546=)
|
rs774264046
|
0.00001
|
NM_000268.4(NF2):c.1671T>C (p.Ala557=)
|
rs759780271
|
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.1752C>T (p.Ser584=)
|
rs370999558
|
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.182T>C (p.Phe61Ser)
|
rs1286915234
|
0.00001
|
NM_000268.4(NF2):c.196T>A (p.Tyr66Asn)
|
rs772274240
|
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.279C>T (p.Thr93=)
|
rs758722464
|
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.318A>G (p.Glu106=)
|
rs535626069
|
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.364-5T>C
|
rs1330676517
|
0.00001
|
NM_000268.4(NF2):c.432C>T (p.Tyr144=)
|
rs1060503667
|
0.00001
|
NM_000268.4(NF2):c.435C>T (p.Ala145=)
|
rs955424447
|
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.543G>A (p.Pro181=)
|
rs139838280
|
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.685G>T (p.Gly229Cys)
|
rs1028670573
|
0.00001
|
NM_000268.4(NF2):c.687C>A (p.Gly229=)
|
rs1339795250
|
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.720G>T (p.Gly240=)
|
rs769348972
|
0.00001
|
NM_000268.4(NF2):c.726C>T (p.His242=)
|
rs1480040681
|
0.00001
|
NM_000268.4(NF2):c.72G>A (p.Val24=)
|
rs761062232
|
0.00001
|
NM_000268.4(NF2):c.72G>C (p.Val24=)
|
rs761062232
|
0.00001
|
NM_000268.4(NF2):c.738T>C (p.Pro246=)
|
rs147665163
|
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.798C>T (p.Tyr266=)
|
rs917257652
|
0.00001
|
NM_000268.4(NF2):c.826C>T (p.Leu276=)
|
rs764702893
|
0.00001
|
NM_000268.4(NF2):c.852G>A (p.Lys284=)
|
rs1184031479
|
0.00001
|
NM_000268.4(NF2):c.874G>A (p.Val292Ile)
|
rs1442581021
|
0.00001
|
NM_000268.4(NF2):c.882G>A (p.Lys294=)
|
rs146166875
|
0.00001
|
NM_000268.4(NF2):c.903C>T (p.Ile301=)
|
rs199957176
|
0.00001
|
NM_000268.4(NF2):c.930A>G (p.Arg310=)
|
rs1408103989
|
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.946T>C (p.Leu316=)
|
rs1326342694
|
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
|
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.1005G>A (p.Glu335=)
|
rs2147070975
|
|
NM_000268.4(NF2):c.1006C>T (p.Arg336Trp)
|
rs140266312
|
|
NM_000268.4(NF2):c.1008G>C (p.Arg336=)
|
|
|
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.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.1028A>C (p.Lys343Thr)
|
|
|
NM_000268.4(NF2):c.1029G>A (p.Lys343=)
|
|
|
NM_000268.4(NF2):c.1029_1050del (p.Lys343fs)
|
|
|
NM_000268.4(NF2):c.1034T>G (p.Met345Arg)
|
|
|
NM_000268.4(NF2):c.1036A>T (p.Arg346Trp)
|
|
|
NM_000268.4(NF2):c.1038G>A (p.Arg346=)
|
|
|
NM_000268.4(NF2):c.1040A>T (p.Glu347Val)
|
|
|
NM_000268.4(NF2):c.1058G>A (p.Arg353Lys)
|
rs2147072682
|
|
NM_000268.4(NF2):c.1059G>A (p.Arg353=)
|
rs1379674036
|
|
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.1061A>C (p.Asp354Ala)
|
rs1601644179
|
|
NM_000268.4(NF2):c.1064A>T (p.Glu355Val)
|
|
|
NM_000268.4(NF2):c.106A>G (p.Asn36Asp)
|
|
|
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.1081C>T (p.Leu361=)
|
rs1299012538
|
|
NM_000268.4(NF2):c.1088T>G (p.Met363Arg)
|
rs2066804849
|
|
NM_000268.4(NF2):c.1092A>G (p.Lys364=)
|
rs1601644296
|
|
NM_000268.4(NF2):c.1092A>T (p.Lys364Asn)
|
rs1601644296
|
|
NM_000268.4(NF2):c.10G>T (p.Ala4Ser)
|
rs2146659577
|
|
NM_000268.4(NF2):c.1100C>G (p.Ala367Gly)
|
|
|
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.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.1117G>A (p.Ala373Thr)
|
|
|
NM_000268.4(NF2):c.1123A>G (p.Met375Val)
|
rs2147082175
|
|
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.1131T>C (p.Ser377=)
|
|
|
NM_000268.4(NF2):c.1134G>A (p.Glu378=)
|
|
|
NM_000268.4(NF2):c.114+4A>G
|
rs1207246677
|
|
NM_000268.4(NF2):c.1140A>G (p.Thr380=)
|
|
|
NM_000268.4(NF2):c.1146C>A (p.Asp382Glu)
|
|
|
NM_000268.4(NF2):c.1147C>T (p.Leu383=)
|
|
|
NM_000268.4(NF2):c.1149G>A (p.Leu383=)
|
rs2147082336
|
|
NM_000268.4(NF2):c.115-4G>T
|
|
|
NM_000268.4(NF2):c.1155T>C (p.Ala385=)
|
rs745717285
|
|
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.1167G>C (p.Gln389His)
|
|
|
NM_000268.4(NF2):c.1176G>A (p.Glu392=)
|
|
|
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.1191_1193del (p.Leu398del)
|
|
|
NM_000268.4(NF2):c.1197C>T (p.Ala399=)
|
rs952523049
|
|
NM_000268.4(NF2):c.1203G>T (p.Lys401Asn)
|
|
|
NM_000268.4(NF2):c.1205C>T (p.Ala402Val)
|
|
|
NM_000268.4(NF2):c.1209A>G (p.Ala403=)
|
rs1026655770
|
|
NM_000268.4(NF2):c.120G>A (p.Lys40=)
|
|
|
NM_000268.4(NF2):c.1215T>C (p.Ala405=)
|
|
|
NM_000268.4(NF2):c.1220A>G (p.Gln407Arg)
|
|
|
NM_000268.4(NF2):c.1222G>A (p.Glu408Lys)
|
|
|
NM_000268.4(NF2):c.1229A>G (p.Gln410Arg)
|
|
|
NM_000268.4(NF2):c.1233C>A (p.Arg411=)
|
|
|
NM_000268.4(NF2):c.1243A>G (p.Thr415Ala)
|
rs776970251
|
|
NM_000268.4(NF2):c.1245A>C (p.Thr415=)
|
|
|
NM_000268.4(NF2):c.1245A>G (p.Thr415=)
|
rs2147083167
|
|
NM_000268.4(NF2):c.1251T>G (p.Ile417Met)
|
|
|
NM_000268.4(NF2):c.1256C>T (p.Thr419Met)
|
rs1216540232
|
|
NM_000268.4(NF2):c.1257G>C (p.Thr419=)
|
rs375969005
|
|
NM_000268.4(NF2):c.1258GAG[2] (p.Glu422del)
|
rs2066863778
|
|
NM_000268.4(NF2):c.1266G>A (p.Glu422=)
|
|
|
NM_000268.4(NF2):c.1268A>C (p.Lys423Thr)
|
|
|
NM_000268.4(NF2):c.1269G>T (p.Lys423Asn)
|
|
|
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.1271G>T (p.Arg424Leu)
|
rs751182657
|
|
NM_000268.4(NF2):c.1272C>A (p.Arg424=)
|
rs781241303
|
|
NM_000268.4(NF2):c.1276A>G (p.Met426Val)
|
|
|
NM_000268.4(NF2):c.1278G>A (p.Met426Ile)
|
|
|
NM_000268.4(NF2):c.1282C>T (p.Gln428Ter)
|
|
|
NM_000268.4(NF2):c.1288G>T (p.Val430Leu)
|
rs1361867592
|
|
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_22delinsTTCA (p.Ile5fs)
|
|
|
NM_000268.4(NF2):c.1303G>A (p.Val435Met)
|
rs772334382
|
|
NM_000268.4(NF2):c.1308G>T (p.Leu436=)
|
|
|
NM_000268.4(NF2):c.1312C>T (p.Leu438=)
|
|
|
NM_000268.4(NF2):c.1315A>C (p.Lys439Gln)
|
|
|
NM_000268.4(NF2):c.1317G>A (p.Lys439=)
|
rs1556000937
|
|
NM_000268.4(NF2):c.1318A>T (p.Met440Leu)
|
|
|
NM_000268.4(NF2):c.1321G>A (p.Ala441Thr)
|
|
|
NM_000268.4(NF2):c.1323T>A (p.Ala441=)
|
rs1556000942
|
|
NM_000268.4(NF2):c.1327G>A (p.Glu443Lys)
|
rs1181051479
|
|
NM_000268.4(NF2):c.1327G>T (p.Glu443Ter)
|
|
|
NM_000268.4(NF2):c.1332A>C (p.Ser444=)
|
|
|
NM_000268.4(NF2):c.1333G>C (p.Glu445Gln)
|
|
|
NM_000268.4(NF2):c.133G>T (p.Asp45Tyr)
|
|
|
NM_000268.4(NF2):c.1341G>A (p.Arg447=)
|
rs2066911364
|
|
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.134A>G (p.Asp45Gly)
|
|
|
NM_000268.4(NF2):c.1354G>A (p.Asp452Asn)
|
|
|
NM_000268.4(NF2):c.1356T>C (p.Asp452=)
|
|
|
NM_000268.4(NF2):c.1357C>G (p.Gln453Glu)
|
rs1556001358
|
|
NM_000268.4(NF2):c.1358A>T (p.Gln453Leu)
|
|
|
NM_000268.4(NF2):c.1360C>T (p.Leu454=)
|
rs1274431013
|
|
NM_000268.4(NF2):c.1362G>A (p.Leu454=)
|
|
|
NM_000268.4(NF2):c.1364A>C (p.Lys455Thr)
|
|
|
NM_000268.4(NF2):c.1368G>A (p.Gln456=)
|
|
|
NM_000268.4(NF2):c.1371C>A (p.Asp457Glu)
|
rs1220807117
|
|
NM_000268.4(NF2):c.1372C>T (p.Leu458=)
|
|
|
NM_000268.4(NF2):c.1374G>A (p.Leu458=)
|
|
|
NM_000268.4(NF2):c.1379A>G (p.Glu460Gly)
|
|
|
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.1389G>A (p.Glu463=)
|
|
|
NM_000268.4(NF2):c.138C>A (p.Leu46=)
|
|
|
NM_000268.4(NF2):c.1395G>A (p.Glu465=)
|
rs1556001388
|
|
NM_000268.4(NF2):c.1396C>A (p.Arg466=)
|
|
|
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.1397G>T (p.Arg466Leu)
|
rs866689896
|
|
NM_000268.4(NF2):c.1399A>C (p.Arg467=)
|
|
|
NM_000268.4(NF2):c.1404C>G (p.Ala468=)
|
|
|
NM_000268.4(NF2):c.1416C>A (p.Leu472=)
|
|
|
NM_000268.4(NF2):c.1418T>G (p.Leu473Arg)
|
|
|
NM_000268.4(NF2):c.1421A>G (p.Glu474Gly)
|
|
|
NM_000268.4(NF2):c.1423A>G (p.Ile475Val)
|
|
|
NM_000268.4(NF2):c.1431C>A (p.Thr477=)
|
rs2147093689
|
|
NM_000268.4(NF2):c.1431C>T (p.Thr477=)
|
|
|
NM_000268.4(NF2):c.1439C>A (p.Thr480Lys)
|
rs145666157
|
|
NM_000268.4(NF2):c.1447-1G>T
|
|
|
NM_000268.4(NF2):c.144T>C (p.Asp48=)
|
|
|
NM_000268.4(NF2):c.1457C>T (p.Pro486Leu)
|
|
|
NM_000268.4(NF2):c.1459A>C (p.Ile487Leu)
|
rs147506929
|
|
NM_000268.4(NF2):c.145T>C (p.Leu49=)
|
|
|
NM_000268.4(NF2):c.145T>G (p.Leu49Val)
|
|
|
NM_000268.4(NF2):c.1463del (p.Pro488fs)
|
|
|
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.1470G>A (p.Pro490=)
|
rs373442542
|
|
NM_000268.4(NF2):c.1471T>C (p.Leu491=)
|
|
|
NM_000268.4(NF2):c.1472T>C (p.Leu491Ser)
|
|
|
NM_000268.4(NF2):c.1478C>T (p.Pro493Leu)
|
|
|
NM_000268.4(NF2):c.1483A>G (p.Ile495Val)
|
rs1194776777
|
|
NM_000268.4(NF2):c.1489A>G (p.Ser497Gly)
|
|
|
NM_000268.4(NF2):c.1490G>A (p.Ser497Asn)
|
|
|
NM_000268.4(NF2):c.1494C>T (p.Phe498=)
|
rs1060504990
|
|
NM_000268.4(NF2):c.1501A>G (p.Ile501Val)
|
rs1315864916
|
|
NM_000268.4(NF2):c.1507del (p.Asp503fs)
|
|
|
NM_000268.4(NF2):c.150G>A (p.Val50=)
|
rs1601578932
|
|
NM_000268.4(NF2):c.1516T>A (p.Ser506Thr)
|
|
|
NM_000268.4(NF2):c.1521C>A (p.Phe507Leu)
|
|
|
NM_000268.4(NF2):c.1521C>T (p.Phe507=)
|
rs994823423
|
|
NM_000268.4(NF2):c.1527C>T (p.Phe509=)
|
rs2067026804
|
|
NM_000268.4(NF2):c.1533T>C (p.Asp511=)
|
rs1601659271
|
|
NM_000268.4(NF2):c.153C>T (p.Cys51=)
|
|
|
NM_000268.4(NF2):c.1546C>A (p.Arg516=)
|
|
|
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>C (p.Leu517Pro)
|
rs1556002568
|
|
NM_000268.4(NF2):c.1551T>C (p.Leu517=)
|
|
|
NM_000268.4(NF2):c.1554C>T (p.Ser518=)
|
|
|
NM_000268.4(NF2):c.1555A>G (p.Met519Val)
|
|
|
NM_000268.4(NF2):c.1558G>A (p.Glu520Lys)
|
|
|
NM_000268.4(NF2):c.155G>A (p.Arg52Gln)
|
|
|
NM_000268.4(NF2):c.1562T>G (p.Ile521Arg)
|
|
|
NM_000268.4(NF2):c.1567A>G (p.Lys523Glu)
|
rs2067028599
|
|
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.1575-1G>C
|
|
|
NM_000268.4(NF2):c.1575A>C (p.Lys525Asn)
|
rs1060503673
|
|
NM_000268.4(NF2):c.1577T>C (p.Val526Ala)
|
|
|
NM_000268.4(NF2):c.1579G>A (p.Glu527Lys)
|
|
|
NM_000268.4(NF2):c.1580A>T (p.Glu527Val)
|
|
|
NM_000268.4(NF2):c.1584C>T (p.Tyr528=)
|
|
|
NM_000268.4(NF2):c.1585A>G (p.Met529Val)
|
rs1456599218
|
|
NM_000268.4(NF2):c.159T>A (p.Thr53=)
|
|
|
NM_000268.4(NF2):c.15C>G (p.Ile5Met)
|
rs998779035
|
|
NM_000268.4(NF2):c.1601A>G (p.His534Arg)
|
rs2147122511
|
|
NM_000268.4(NF2):c.1605G>A (p.Leu535=)
|
|
|
NM_000268.4(NF2):c.1606C>T (p.Gln536Ter)
|
rs2147122581
|
|
NM_000268.4(NF2):c.1608G>A (p.Gln536=)
|
|
|
NM_000268.4(NF2):c.160C>T (p.Leu54=)
|
|
|
NM_000268.4(NF2):c.1611G>T (p.Glu537Asp)
|
rs946609084
|
|
NM_000268.4(NF2):c.1612C>T (p.Gln538Ter)
|
rs2147122623
|
|
NM_000268.4(NF2):c.1614G>A (p.Gln538=)
|
|
|
NM_000268.4(NF2):c.1615C>T (p.Leu539Phe)
|
|
|
NM_000268.4(NF2):c.1618A>G (p.Asn540Asp)
|
|
|
NM_000268.4(NF2):c.161T>G (p.Leu54Arg)
|
|
|
NM_000268.4(NF2):c.1624C>T (p.Leu542Phe)
|
|
|
NM_000268.4(NF2):c.1626C>T (p.Leu542=)
|
|
|
NM_000268.4(NF2):c.1627A>T (p.Lys543Ter)
|
rs878853925
|
|
NM_000268.4(NF2):c.1630A>G (p.Thr544Ala)
|
rs762953921
|
|
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.1660A>C (p.Arg554=)
|
|
|
NM_000268.4(NF2):c.1660A>G (p.Arg554Gly)
|
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>C (p.Glu555Gln)
|
|
|
NM_000268.4(NF2):c.1665G>A (p.Glu555=)
|
|
|
NM_000268.4(NF2):c.1666A>G (p.Thr556Ala)
|
|
|
NM_000268.4(NF2):c.1667C>T (p.Thr556Ile)
|
|
|
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.1678A>T (p.Ile560Phe)
|
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.1684C>A (p.His562Asn)
|
|
|
NM_000268.4(NF2):c.1684C>T (p.His562Tyr)
|
|
|
NM_000268.4(NF2):c.1685A>T (p.His562Leu)
|
rs878853926
|
|
NM_000268.4(NF2):c.1687A>G (p.Asn563Asp)
|
|
|
NM_000268.4(NF2):c.1692G>A (p.Glu564=)
|
|
|
NM_000268.4(NF2):c.1693A>T (p.Asn565Tyr)
|
rs1601666359
|
|
NM_000268.4(NF2):c.1696T>C (p.Ser566Pro)
|
|
|
NM_000268.4(NF2):c.169C>T (p.Arg57Ter)
|
rs121434259
|
|
NM_000268.4(NF2):c.16G>A (p.Ala6Thr)
|
|
|
NM_000268.4(NF2):c.16G>C (p.Ala6Pro)
|
rs1601515753
|
|
NM_000268.4(NF2):c.1703G>T (p.Arg568Met)
|
|
|
NM_000268.4(NF2):c.1704G>T (p.Arg568Ser)
|
|
|
NM_000268.4(NF2):c.1707T>C (p.Gly569=)
|
|
|
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.1720C>A (p.His574Asn)
|
|
|
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.1722C>T (p.His574=)
|
rs1041539951
|
|
NM_000268.4(NF2):c.1725T>C (p.Asn575=)
|
|
|
NM_000268.4(NF2):c.1726A>T (p.Thr576Ser)
|
rs1601666549
|
|
NM_000268.4(NF2):c.1731T>C (p.Ile577=)
|
|
|
NM_000268.4(NF2):c.1737+1G>T
|
rs1556003799
|
|
NM_000268.4(NF2):c.1737+5C>G
|
|
|
NM_000268.4(NF2):c.1738-3C>A
|
rs2147171627
|
|
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.1744T>C (p.Leu582=)
|
|
|
NM_000268.4(NF2):c.174A>C (p.Glu58Asp)
|
|
|
NM_000268.4(NF2):c.1753G>T (p.Ala585Ser)
|
rs145446060
|
|
NM_000268.4(NF2):c.1758G>C (p.Lys586Asn)
|
|
|
NM_000268.4(NF2):c.1762C>A (p.Arg588=)
|
rs1341371726
|
|
NM_000268.4(NF2):c.1762C>T (p.Arg588Ter)
|
rs1341371726
|
|
NM_000268.4(NF2):c.1764A>C (p.Arg588=)
|
rs1601688952
|
|
NM_000268.4(NF2):c.1764A>G (p.Arg588=)
|
|
|
NM_000268.4(NF2):c.1769C>G (p.Ala590Gly)
|
|
|
NM_000268.4(NF2):c.1776T>C (p.Phe592=)
|
rs1290530587
|
|
NM_000268.4(NF2):c.1779A>G (p.Glu593=)
|
rs2147171983
|
|
NM_000268.4(NF2):c.177C>G (p.Thr59=)
|
rs757125309
|
|
NM_000268.4(NF2):c.1780G>A (p.Glu594Lys)
|
|
|
NM_000268.4(NF2):c.1783C>T (p.Leu595Phe)
|
rs1601689027
|
|
NM_000268.4(NF2):c.179G>C (p.Trp60Ser)
|
|
|
NM_000268.4(NF2):c.183C>T (p.Phe61=)
|
rs2146853392
|
|
NM_000268.4(NF2):c.186T>C (p.Phe62=)
|
rs373178836
|
|
NM_000268.4(NF2):c.190C>T (p.Leu64=)
|
rs779218238
|
|
NM_000268.4(NF2):c.192G>A (p.Leu64=)
|
|
|
NM_000268.4(NF2):c.194A>G (p.Gln65Arg)
|
|
|
NM_000268.4(NF2):c.201A>G (p.Thr67=)
|
|
|
NM_000268.4(NF2):c.202A>G (p.Ile68Val)
|
|
|
NM_000268.4(NF2):c.204C>T (p.Ile68=)
|
|
|
NM_000268.4(NF2):c.20C>T (p.Ser7Phe)
|
rs2146659687
|
|
NM_000268.4(NF2):c.211A>G (p.Thr71Ala)
|
|
|
NM_000268.4(NF2):c.213A>G (p.Thr71=)
|
rs2065662742
|
|
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.219C>T (p.Ala73=)
|
rs2146854444
|
|
NM_000268.4(NF2):c.21C>T (p.Ser7=)
|
|
|
NM_000268.4(NF2):c.22C>A (p.Arg8Ser)
|
|
|
NM_000268.4(NF2):c.22C>G (p.Arg8Gly)
|
|
|
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>T (p.Arg8Leu)
|
rs775564806
|
|
NM_000268.4(NF2):c.240+1G>C
|
rs587776562
|
|
NM_000268.4(NF2):c.240+5G>A
|
|
|
NM_000268.4(NF2):c.240G>A (p.Lys80=)
|
rs1555986950
|
|
NM_000268.4(NF2):c.241G>A (p.Val81Ile)
|
|
|
NM_000268.4(NF2):c.243A>T (p.Val81=)
|
|
|
NM_000268.4(NF2):c.245T>C (p.Leu82Pro)
|
rs2065727847
|
|
NM_000268.4(NF2):c.247G>C (p.Asp83His)
|
|
|
NM_000268.4(NF2):c.252T>A (p.His84Gln)
|
|
|
NM_000268.4(NF2):c.252T>C (p.His84=)
|
rs374512699
|
|
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.272C>G (p.Pro91Arg)
|
rs1569281659
|
|
NM_000268.4(NF2):c.281T>G (p.Phe94Cys)
|
rs1601583588
|
|
NM_000268.4(NF2):c.288C>T (p.Phe96=)
|
rs1003303140
|
|
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.302A>T (p.Tyr101Phe)
|
rs1240469044
|
|
NM_000268.4(NF2):c.320A>G (p.Glu107Gly)
|
|
|
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.336G>A (p.Glu112=)
|
rs2146872481
|
|
NM_000268.4(NF2):c.339C>T (p.Ile113=)
|
rs2065732712
|
|
NM_000268.4(NF2):c.340A>T (p.Thr114Ser)
|
|
|
NM_000268.4(NF2):c.342ACA[1] (p.Gln115del)
|
rs1601583772
|
|
NM_000268.4(NF2):c.345A>T (p.Gln115His)
|
rs746369012
|
|
NM_000268.4(NF2):c.348T>C (p.His116=)
|
|
|
NM_000268.4(NF2):c.352T>G (p.Phe118Val)
|
rs2065733287
|
|
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+2T>C
|
rs2146873271
|
|
NM_000268.4(NF2):c.364-3C>T
|
rs2065829595
|
|
NM_000268.4(NF2):c.365T>C (p.Val122Ala)
|
|
|
NM_000268.4(NF2):c.366A>G (p.Val122=)
|
rs750431087
|
|
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.375G>C (p.Gln125His)
|
rs2065829948
|
|
NM_000268.4(NF2):c.376A>G (p.Ile126Val)
|
rs780483061
|
|
NM_000268.4(NF2):c.392T>C (p.Ile131Thr)
|
|
|
NM_000268.4(NF2):c.392T>G (p.Ile131Ser)
|
|
|
NM_000268.4(NF2):c.393C>A (p.Ile131=)
|
|
|
NM_000268.4(NF2):c.3G>A (p.Met1Ile)
|
|
|
NM_000268.4(NF2):c.401C>T (p.Pro134Leu)
|
rs1029716358
|
|
NM_000268.4(NF2):c.402T>C (p.Pro134=)
|
rs2065830830
|
|
NM_000268.4(NF2):c.402T>G (p.Pro134=)
|
rs2065830830
|
|
NM_000268.4(NF2):c.405T>C (p.Pro135=)
|
|
|
NM_000268.4(NF2):c.410C>A (p.Ala137Asp)
|
|
|
NM_000268.4(NF2):c.41T>C (p.Leu14Pro)
|
|
|
NM_000268.4(NF2):c.420C>A (p.Leu140=)
|
rs2146894238
|
|
NM_000268.4(NF2):c.420C>T (p.Leu140=)
|
|
|
NM_000268.4(NF2):c.423G>C (p.Leu141=)
|
|
|
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.445A>G (p.Lys149Glu)
|
|
|
NM_000268.4(NF2):c.447+3A>G
|
|
|
NM_000268.4(NF2):c.448-1G>T
|
|
|
NM_000268.4(NF2):c.448-4C>G
|
rs760733256
|
|
NM_000268.4(NF2):c.448-5T>C
|
rs878853928
|
|
NM_000268.4(NF2):c.453T>G (p.Gly151=)
|
rs2146966325
|
|
NM_000268.4(NF2):c.454G>A (p.Asp152Asn)
|
|
|
NM_000268.4(NF2):c.460G>A (p.Asp154Asn)
|
|
|
NM_000268.4(NF2):c.462C>A (p.Asp154Glu)
|
|
|
NM_000268.4(NF2):c.465dup (p.Ser156fs)
|
|
|
NM_000268.4(NF2):c.467G>A (p.Ser156Asn)
|
rs2146966627
|
|
NM_000268.4(NF2):c.468T>C (p.Ser156=)
|
|
|
NM_000268.4(NF2):c.477G>T (p.Lys159Asn)
|
|
|
NM_000268.4(NF2):c.478C>A (p.Arg160=)
|
|
|
NM_000268.4(NF2):c.479G>A (p.Arg160Gln)
|
rs867595517
|
|
NM_000268.4(NF2):c.492C>T (p.Ala164=)
|
rs1307586355
|
|
NM_000268.4(NF2):c.493del (p.Gln165fs)
|
|
|
NM_000268.4(NF2):c.497A>T (p.Glu166Val)
|
rs779353677
|
|
NM_000268.4(NF2):c.498G>A (p.Glu166=)
|
|
|
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.501A>G (p.Glu167=)
|
rs1480981635
|
|
NM_000268.4(NF2):c.504G>A (p.Leu168=)
|
rs182990439
|
|
NM_000268.4(NF2):c.50A>G (p.Lys17Arg)
|
rs2064714998
|
|
NM_000268.4(NF2):c.515G>T (p.Arg172Met)
|
|
|
NM_000268.4(NF2):c.516+1G>T
|
rs1601612044
|
|
NM_000268.4(NF2):c.516G>T (p.Arg172Ser)
|
|
|
NM_000268.4(NF2):c.517-5G>A
|
rs2146971836
|
|
NM_000268.4(NF2):c.525T>A (p.Asn175Lys)
|
rs1601613495
|
|
NM_000268.4(NF2):c.531T>G (p.Tyr177Ter)
|
|
|
NM_000268.4(NF2):c.541C>G (p.Pro181Ala)
|
|
|
NM_000268.4(NF2):c.545A>G (p.Glu182Gly)
|
rs2066279652
|
|
NM_000268.4(NF2):c.546A>G (p.Glu182=)
|
rs1202105168
|
|
NM_000268.4(NF2):c.547A>T (p.Met183Leu)
|
|
|
NM_000268.4(NF2):c.555G>A (p.Glu185=)
|
rs1293410909
|
|
NM_000268.4(NF2):c.558G>A (p.Glu186=)
|
|
|
NM_000268.4(NF2):c.55C>T (p.Pro19Ser)
|
rs1477242482
|
|
NM_000268.4(NF2):c.560G>A (p.Arg187Lys)
|
rs1234052589
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NM_000268.4(NF2):c.560G>T (p.Arg187Ile)
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NM_000268.4(NF2):c.56C>G (p.Pro19Arg)
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rs1601515928
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NM_000268.4(NF2):c.576C>A (p.Tyr192Ter)
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NM_000268.4(NF2):c.578C>G (p.Ala193Gly)
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NM_000268.4(NF2):c.578C>T (p.Ala193Val)
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NM_000268.4(NF2):c.579A>G (p.Ala193=)
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rs1332985565
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NM_000268.4(NF2):c.582G>A (p.Glu194=)
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NM_000268.4(NF2):c.582G>C (p.Glu194Asp)
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NM_000268.4(NF2):c.583C>T (p.His195Tyr)
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NM_000268.4(NF2):c.585C>T (p.His195=)
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rs2146973623
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NM_000268.4(NF2):c.586C>G (p.Arg196Gly)
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rs1555993336
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NM_000268.4(NF2):c.586C>T (p.Arg196Ter)
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rs1555993336
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NM_000268.4(NF2):c.587G>A (p.Arg196Gln)
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rs749176138
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NM_000268.4(NF2):c.590G>A (p.Gly197Asp)
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NM_000268.4(NF2):c.590G>T (p.Gly197Val)
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NM_000268.4(NF2):c.593G>A (p.Arg198Gln)
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rs2146973900
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NM_000268.4(NF2):c.593G>C (p.Arg198Pro)
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NM_000268.4(NF2):c.594A>T (p.Arg198=)
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NM_000268.4(NF2):c.597C>T (p.Ala199=)
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NM_000268.4(NF2):c.599+1G>A
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rs1555993352
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NM_000268.4(NF2):c.599+1G>T
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rs1555993352
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NM_000268.4(NF2):c.599+5G>A
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rs1601613749
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NM_000268.4(NF2):c.59A>C (p.Lys20Thr)
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NM_000268.4(NF2):c.600G>A (p.Arg200=)
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rs1156687503
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NM_000268.4(NF2):c.602A>G (p.Asp201Gly)
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rs1601618525
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NM_000268.4(NF2):c.610G>C (p.Glu204Gln)
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rs1569295916
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NM_000268.4(NF2):c.610G>T (p.Glu204Ter)
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NM_000268.4(NF2):c.619T>C (p.Tyr207His)
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rs1601618565
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NM_000268.4(NF2):c.61A>G (p.Thr21Ala)
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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.638A>G (p.Asp213Gly)
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NM_000268.4(NF2):c.63G>T (p.Thr21=)
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NM_000268.4(NF2):c.641T>A (p.Leu214Gln)
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NM_000268.4(NF2):c.642G>A (p.Leu214=)
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NM_000268.4(NF2):c.644A>C (p.Glu215Ala)
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NM_000268.4(NF2):c.652G>T (p.Gly218Cys)
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rs776818377
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NM_000268.4(NF2):c.655G>T (p.Val219Leu)
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NM_000268.4(NF2):c.663C>G (p.Tyr221Ter)
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rs2146990737
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NM_000268.4(NF2):c.670A>G (p.Ile224Val)
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rs1555994825
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NM_000268.4(NF2):c.672C>G (p.Ile224Met)
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NM_000268.4(NF2):c.672C>T (p.Ile224=)
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rs1298953582
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NM_000268.4(NF2):c.674G>C (p.Arg225Pro)
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NM_000268.4(NF2):c.676-4A>G
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rs2147007478
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NM_000268.4(NF2):c.676A>C (p.Asn226His)
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rs886057336
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NM_000268.4(NF2):c.678T>A (p.Asn226Lys)
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NM_000268.4(NF2):c.678T>C (p.Asn226=)
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NM_000268.4(NF2):c.685G>A (p.Gly229Ser)
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NM_000268.4(NF2):c.691G>C (p.Glu231Gln)
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rs770019352
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NM_000268.4(NF2):c.696G>T (p.Leu232=)
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NM_000268.4(NF2):c.698T>C (p.Leu233Pro)
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NM_000268.4(NF2):c.699G>C (p.Leu233=)
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rs780003734
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NM_000268.4(NF2):c.69C>T (p.Thr23=)
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rs2064716137
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NM_000268.4(NF2):c.712G>T (p.Ala238Ser)
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NM_000268.4(NF2):c.719G>A (p.Gly240Glu)
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NM_000268.4(NF2):c.720G>A (p.Gly240=)
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NM_000268.4(NF2):c.721C>A (p.Leu241Ile)
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NM_000268.4(NF2):c.727A>G (p.Ile243Val)
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NM_000268.4(NF2):c.730T>C (p.Tyr244His)
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NM_000268.4(NF2):c.733G>A (p.Asp245Asn)
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rs2066468835
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NM_000268.4(NF2):c.733G>T (p.Asp245Tyr)
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NM_000268.4(NF2):c.734A>G (p.Asp245Gly)
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NM_000268.4(NF2):c.735C>T (p.Asp245=)
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NM_000268.4(NF2):c.738T>A (p.Pro246=)
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NM_000268.4(NF2):c.740A>G (p.Glu247Gly)
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NM_000268.4(NF2):c.745A>T (p.Arg249Ter)
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NM_000268.4(NF2):c.749T>A (p.Leu250Gln)
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rs1432132718
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NM_000268.4(NF2):c.74G>A (p.Arg25Lys)
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rs1569259813
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NM_000268.4(NF2):c.753C>T (p.Thr251=)
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rs2147009720
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NM_000268.4(NF2):c.754C>T (p.Pro252Ser)
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NM_000268.4(NF2):c.759G>A (p.Lys253=)
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rs760272926
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NM_000268.4(NF2):c.764_766del (p.Ser255del)
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NM_000268.4(NF2):c.766T>C (p.Phe256Leu)
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rs1474769404
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NM_000268.4(NF2):c.766T>G (p.Phe256Val)
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NM_000268.4(NF2):c.76A>T (p.Ile26Phe)
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NM_000268.4(NF2):c.770C>G (p.Pro257Arg)
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rs753300935
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NM_000268.4(NF2):c.771G>C (p.Pro257=)
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NM_000268.4(NF2):c.783C>A (p.Ile261=)
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NM_000268.4(NF2):c.783C>G (p.Ile261Met)
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NM_000268.4(NF2):c.786A>G (p.Arg262=)
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NM_000268.4(NF2):c.789C>T (p.Asn263=)
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rs1555996218
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NM_000268.4(NF2):c.78C>T (p.Ile26=)
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rs2064716954
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NM_000268.4(NF2):c.792C>T (p.Ile264=)
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NM_000268.4(NF2):c.794C>T (p.Ser265Leu)
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rs1601624241
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NM_000268.4(NF2):c.805A>G (p.Lys269Glu)
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NM_000268.4(NF2):c.807G>A (p.Lys269=)
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rs2147011393
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NM_000268.4(NF2):c.810+1G>A
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rs794728682
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NM_000268.4(NF2):c.813T>C (p.Phe271=)
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NM_000268.4(NF2):c.815C>T (p.Thr272Ile)
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rs1555997534
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NM_000268.4(NF2):c.816T>A (p.Thr272=)
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rs1555997539
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NM_000268.4(NF2):c.817A>G (p.Ile273Val)
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rs1368184325
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NM_000268.4(NF2):c.829G>T (p.Asp277Tyr)
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NM_000268.4(NF2):c.831T>G (p.Asp277Glu)
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rs762883753
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NM_000268.4(NF2):c.840T>C (p.Ile280=)
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rs1233245274
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NM_000268.4(NF2):c.841G>C (p.Asp281His)
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NM_000268.4(NF2):c.842A>T (p.Asp281Val)
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rs2147033520
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NM_000268.4(NF2):c.845T>C (p.Val282Ala)
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rs1601630493
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NM_000268.4(NF2):c.84C>T (p.Thr28=)
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rs1410448416
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NM_000268.4(NF2):c.855T>C (p.Phe285=)
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NM_000268.4(NF2):c.865A>G (p.Lys289Glu)
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NM_000268.4(NF2):c.867G>A (p.Lys289=)
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NM_000268.4(NF2):c.871C>T (p.Arg291Cys)
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NM_000268.4(NF2):c.875T>C (p.Val292Ala)
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NM_000268.4(NF2):c.878A>G (p.Asn293Ser)
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NM_000268.4(NF2):c.88G>A (p.Asp30Asn)
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rs1601516058
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NM_000268.4(NF2):c.891C>G (p.Leu297=)
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NM_000268.4(NF2):c.891C>T (p.Leu297=)
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rs755253391
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NM_000268.4(NF2):c.901A>G (p.Ile301Val)
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NM_000268.4(NF2):c.904G>A (p.Gly302Arg)
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rs1255367068
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NM_000268.4(NF2):c.906G>C (p.Gly302=)
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NM_000268.4(NF2):c.908A>C (p.Asn303Thr)
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NM_000268.4(NF2):c.90C>T (p.Asp30=)
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NM_000268.4(NF2):c.915T>C (p.Asp305=)
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rs1601636823
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NM_000268.4(NF2):c.922A>G (p.Met308Val)
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rs2066686693
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NM_000268.4(NF2):c.923T>C (p.Met308Thr)
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rs1462083103
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NM_000268.4(NF2):c.926G>A (p.Arg309Lys)
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NM_000268.4(NF2):c.93C>A (p.Ala31=)
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rs1601516078
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NM_000268.4(NF2):c.949G>A (p.Glu317Lys)
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NM_000268.4(NF2):c.951A>G (p.Glu317=)
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rs1601636972
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NM_000268.4(NF2):c.953T>G (p.Val318Gly)
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NM_000268.4(NF2):c.960G>C (p.Gln320His)
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NM_000268.4(NF2):c.961A>C (p.Met321Leu)
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NM_000268.4(NF2):c.962T>C (p.Met321Thr)
|
rs2066688680
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NM_000268.4(NF2):c.966A>T (p.Lys322Asn)
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NM_000268.4(NF2):c.968C>G (p.Ala323Gly)
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NM_000268.4(NF2):c.970C>T (p.Gln324Ter)
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NM_000268.4(NF2):c.978G>A (p.Arg326=)
|
rs1601637089
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NM_000268.4(NF2):c.979G>A (p.Glu327Lys)
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NM_000268.4(NF2):c.979G>T (p.Glu327Ter)
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NM_000268.4(NF2):c.97A>T (p.Met33Leu)
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NM_000268.4(NF2):c.981G>A (p.Glu327=)
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NM_000268.4(NF2):c.987G>A (p.Lys329=)
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NM_000268.4(NF2):c.988G>A (p.Ala330Thr)
|
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NM_000268.4(NF2):c.991A>C (p.Arg331=)
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NM_000268.4(NF2):c.991A>G (p.Arg331Gly)
|
rs2147053223
|
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NM_000268.4(NF2):c.999+5G>A
|
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NM_000268.4(NF2):c.999G>A (p.Gln333=)
|
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NM_000268.4(NF2):c.9G>A (p.Gly3=)
|
rs1280487219
|
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NM_000268.4(NF2):c.9G>C (p.Gly3=)
|
rs1280487219
|
|