NM_000268.4(NF2):c.1123-6C>T
|
rs147898623
|
0.00173
|
NM_000268.4(NF2):c.107A>G (p.Asn36Ser)
|
rs372279458
|
0.00014
|
NM_000268.4(NF2):c.1445C>G (p.Pro482Arg)
|
rs766339217
|
0.00010
|
NM_000268.4(NF2):c.1540A>G (p.Met514Val)
|
rs201527155
|
0.00009
|
NM_000268.4(NF2):c.1252C>T (p.Arg418Cys)
|
rs765540111
|
0.00004
|
NM_000268.4(NF2):c.1619A>G (p.Asn540Ser)
|
rs774824164
|
0.00004
|
NM_000268.4(NF2):c.325C>T (p.Leu109=)
|
rs201603384
|
0.00004
|
NM_000268.4(NF2):c.1055C>T (p.Thr352Met)
|
rs764441073
|
0.00003
|
NM_000268.4(NF2):c.1300G>A (p.Glu434Lys)
|
rs992662337
|
0.00003
|
NM_000268.4(NF2):c.1012C>T (p.Arg338Cys)
|
rs761795291
|
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.515G>A (p.Arg172Lys)
|
rs752963731
|
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.916C>G (p.Leu306Val)
|
rs1399716137
|
0.00002
|
NM_000268.4(NF2):c.1007G>A (p.Arg336Gln)
|
rs587778554
|
0.00001
|
NM_000268.4(NF2):c.1021C>G (p.Arg341Gly)
|
rs74315499
|
0.00001
|
NM_000268.4(NF2):c.1065G>C (p.Glu355Asp)
|
rs1277506366
|
0.00001
|
NM_000268.4(NF2):c.1126C>T (p.Arg376Trp)
|
rs867367858
|
0.00001
|
NM_000268.4(NF2):c.1174G>A (p.Glu392Lys)
|
rs1026724985
|
0.00001
|
NM_000268.4(NF2):c.1247C>T (p.Ala416Val)
|
rs2066862902
|
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.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.1445C>T (p.Pro482Leu)
|
rs766339217
|
0.00001
|
NM_000268.4(NF2):c.1453A>T (p.Asn485Tyr)
|
rs1601658875
|
0.00001
|
NM_000268.4(NF2):c.1463C>T (p.Pro488Leu)
|
rs1173959854
|
0.00001
|
NM_000268.4(NF2):c.1511G>T (p.Ser504Ile)
|
rs756366940
|
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.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.1702_1703del (p.Arg568fs)
|
rs755032702
|
0.00001
|
NM_000268.4(NF2):c.1706G>A (p.Gly569Asp)
|
rs781488145
|
0.00001
|
NM_000268.4(NF2):c.182T>C (p.Phe61Ser)
|
rs1286915234
|
0.00001
|
NM_000268.4(NF2):c.241-5T>C
|
rs1378725834
|
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.364-5T>C
|
rs1330676517
|
0.00001
|
NM_000268.4(NF2):c.521T>C (p.Ile174Thr)
|
rs1346860299
|
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.713C>T (p.Ala238Val)
|
rs761195572
|
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.874G>A (p.Val292Ile)
|
rs1442581021
|
0.00001
|
NM_000268.4(NF2):c.886-5C>T
|
rs1157713907
|
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.999G>C (p.Gln333His)
|
rs1469191017
|
0.00001
|
NM_000268.3:c.831_832insALU
|
|
|
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.1006C>T (p.Arg336Trp)
|
rs140266312
|
|
NM_000268.4(NF2):c.1013G>T (p.Arg338Leu)
|
|
|
NM_000268.4(NF2):c.1016T>G (p.Leu339Arg)
|
|
|
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.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.1050A>C (p.Glu350Asp)
|
|
|
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.1060G>A (p.Asp354Asn)
|
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.106A>G (p.Asn36Asp)
|
|
|
NM_000268.4(NF2):c.1070A>G (p.Glu357Gly)
|
|
|
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.1087A>G (p.Met363Val)
|
rs776499914
|
|
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.10G>C (p.Ala4Pro)
|
|
|
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.1111A>G (p.Asn371Asp)
|
|
|
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.114+4A>G
|
rs1207246677
|
|
NM_000268.4(NF2):c.114+5C>A
|
|
|
NM_000268.4(NF2):c.1146C>A (p.Asp382Glu)
|
|
|
NM_000268.4(NF2):c.115-3C>T
|
rs2065657841
|
|
NM_000268.4(NF2):c.115-4G>T
|
|
|
NM_000268.4(NF2):c.1153G>A (p.Ala385Thr)
|
|
|
NM_000268.4(NF2):c.115A>G (p.Met39Val)
|
rs761188569
|
|
NM_000268.4(NF2):c.1162G>A (p.Ala388Thr)
|
|
|
NM_000268.4(NF2):c.1163C>T (p.Ala388Val)
|
rs587778553
|
|
NM_000268.4(NF2):c.1167G>C (p.Gln389His)
|
|
|
NM_000268.4(NF2):c.1168A>C (p.Ile390Leu)
|
|
|
NM_000268.4(NF2):c.1171A>G (p.Thr391Ala)
|
|
|
NM_000268.4(NF2):c.1183G>T (p.Ala395Ser)
|
rs1601648303
|
|
NM_000268.4(NF2):c.1191_1193del (p.Leu398del)
|
|
|
NM_000268.4(NF2):c.1203G>T (p.Lys401Asn)
|
|
|
NM_000268.4(NF2):c.1205C>T (p.Ala402Val)
|
|
|
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.1243A>G (p.Thr415Ala)
|
rs776970251
|
|
NM_000268.4(NF2):c.1251T>G (p.Ile417Met)
|
|
|
NM_000268.4(NF2):c.1253G>T (p.Arg418Leu)
|
|
|
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.1268A>C (p.Lys423Thr)
|
|
|
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.1276A>G (p.Met426Val)
|
|
|
NM_000268.4(NF2):c.1278G>A (p.Met426Ile)
|
|
|
NM_000268.4(NF2):c.1288G>T (p.Val430Leu)
|
rs1361867592
|
|
NM_000268.4(NF2):c.1294G>A (p.Glu432Lys)
|
|
|
NM_000268.4(NF2):c.1297G>A (p.Ala433Thr)
|
rs1449875899
|
|
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.1315A>C (p.Lys439Gln)
|
|
|
NM_000268.4(NF2):c.1318A>T (p.Met440Leu)
|
|
|
NM_000268.4(NF2):c.1321G>A (p.Ala441Thr)
|
|
|
NM_000268.4(NF2):c.1327G>A (p.Glu443Lys)
|
rs1181051479
|
|
NM_000268.4(NF2):c.1333G>C (p.Glu445Gln)
|
|
|
NM_000268.4(NF2):c.133G>T (p.Asp45Tyr)
|
|
|
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.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.1371C>A (p.Asp457Glu)
|
rs1220807117
|
|
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.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.1432A>G (p.Lys478Glu)
|
|
|
NM_000268.4(NF2):c.1439C>A (p.Thr480Lys)
|
rs145666157
|
|
NM_000268.4(NF2):c.1447C>T (p.Pro483Ser)
|
|
|
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>G (p.Leu49Val)
|
|
|
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.1472T>C (p.Leu491Ser)
|
|
|
NM_000268.4(NF2):c.1474C>G (p.Pro492Ala)
|
|
|
NM_000268.4(NF2):c.1475C>G (p.Pro492Arg)
|
|
|
NM_000268.4(NF2):c.1478C>T (p.Pro493Leu)
|
|
|
NM_000268.4(NF2):c.1481A>G (p.Asp494Gly)
|
|
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NM_000268.4(NF2):c.1483A>G (p.Ile495Val)
|
rs1194776777
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NM_000268.4(NF2):c.1484T>C (p.Ile495Thr)
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NM_000268.4(NF2):c.1486C>G (p.Pro496Ala)
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NM_000268.4(NF2):c.1489A>C (p.Ser497Arg)
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NM_000268.4(NF2):c.1489A>G (p.Ser497Gly)
|
|
|
NM_000268.4(NF2):c.1490G>A (p.Ser497Asn)
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NM_000268.4(NF2):c.1496A>G (p.Asn499Ser)
|
rs2147108268
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NM_000268.4(NF2):c.1498C>A (p.Leu500Ile)
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NM_000268.4(NF2):c.1504G>T (p.Gly502Cys)
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NM_000268.4(NF2):c.1516T>A (p.Ser506Thr)
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NM_000268.4(NF2):c.1521C>A (p.Phe507Leu)
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NM_000268.4(NF2):c.1546C>T (p.Arg516Trp)
|
rs762588182
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NM_000268.4(NF2):c.1547G>A (p.Arg516Gln)
|
rs1569309694
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NM_000268.4(NF2):c.1555A>G (p.Met519Val)
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NM_000268.4(NF2):c.1558G>A (p.Glu520Lys)
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NM_000268.4(NF2):c.155G>A (p.Arg52Gln)
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NM_000268.4(NF2):c.1560G>T (p.Glu520Asp)
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NM_000268.4(NF2):c.1562T>G (p.Ile521Arg)
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NM_000268.4(NF2):c.1567A>G (p.Lys523Glu)
|
rs2067028599
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NM_000268.4(NF2):c.1574+4T>C
|
rs1556002586
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NM_000268.4(NF2):c.1574+4T>G
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NM_000268.4(NF2):c.1574A>G (p.Lys525Arg)
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NM_000268.4(NF2):c.1575-12T>G
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NM_000268.4(NF2):c.1575A>C (p.Lys525Asn)
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rs1060503673
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NM_000268.4(NF2):c.1576G>A (p.Val526Met)
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NM_000268.4(NF2):c.1577T>C (p.Val526Ala)
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NM_000268.4(NF2):c.1579G>A (p.Glu527Lys)
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NM_000268.4(NF2):c.157A>T (p.Thr53Ser)
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NM_000268.4(NF2):c.1580A>T (p.Glu527Val)
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NM_000268.4(NF2):c.1583A>G (p.Tyr528Cys)
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NM_000268.4(NF2):c.1585A>G (p.Met529Val)
|
rs1456599218
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NM_000268.4(NF2):c.15C>G (p.Ile5Met)
|
rs998779035
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NM_000268.4(NF2):c.1600C>T (p.His534Tyr)
|
rs769370159
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NM_000268.4(NF2):c.1601A>G (p.His534Arg)
|
rs2147122511
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NM_000268.4(NF2):c.1603C>G (p.Leu535Val)
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NM_000268.4(NF2):c.1609G>C (p.Glu537Gln)
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NM_000268.4(NF2):c.1611G>T (p.Glu537Asp)
|
rs946609084
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NM_000268.4(NF2):c.1615C>G (p.Leu539Val)
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NM_000268.4(NF2):c.1615C>T (p.Leu539Phe)
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NM_000268.4(NF2):c.1618A>G (p.Asn540Asp)
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NM_000268.4(NF2):c.161T>G (p.Leu54Arg)
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NM_000268.4(NF2):c.1624C>T (p.Leu542Phe)
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NM_000268.4(NF2):c.1630A>G (p.Thr544Ala)
|
rs762953921
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NM_000268.4(NF2):c.1633G>C (p.Glu545Gln)
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NM_000268.4(NF2):c.1635A>T (p.Glu545Asp)
|
rs1556003698
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NM_000268.4(NF2):c.1642G>A (p.Ala548Thr)
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NM_000268.4(NF2):c.1643C>G (p.Ala548Gly)
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NM_000268.4(NF2):c.1643C>T (p.Ala548Val)
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NM_000268.4(NF2):c.1650A>T (p.Lys550Asn)
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NM_000268.4(NF2):c.1652_1655del (p.Leu551fs)
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NM_000268.4(NF2):c.1660A>G (p.Arg554Gly)
|
rs1601666203
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NM_000268.4(NF2):c.1661G>A (p.Arg554Lys)
|
rs2067134618
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NM_000268.4(NF2):c.1661G>C (p.Arg554Thr)
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NM_000268.4(NF2):c.1663G>C (p.Glu555Gln)
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NM_000268.4(NF2):c.1666A>G (p.Thr556Ala)
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NM_000268.4(NF2):c.1667C>T (p.Thr556Ile)
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NM_000268.4(NF2):c.1670C>G (p.Ala557Gly)
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NM_000268.4(NF2):c.1672C>G (p.Leu558Val)
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NM_000268.4(NF2):c.1676A>G (p.Asp559Gly)
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NM_000268.4(NF2):c.1678A>T (p.Ile560Phe)
|
rs557347747
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NM_000268.4(NF2):c.1684C>A (p.His562Asn)
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NM_000268.4(NF2):c.1684C>T (p.His562Tyr)
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NM_000268.4(NF2):c.1685A>T (p.His562Leu)
|
rs878853926
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NM_000268.4(NF2):c.1687A>G (p.Asn563Asp)
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NM_000268.4(NF2):c.1693A>T (p.Asn565Tyr)
|
rs1601666359
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NM_000268.4(NF2):c.1696T>C (p.Ser566Pro)
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NM_000268.4(NF2):c.16G>A (p.Ala6Thr)
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NM_000268.4(NF2):c.16G>C (p.Ala6Pro)
|
rs1601515753
|
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NM_000268.4(NF2):c.1703G>T (p.Arg568Met)
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NM_000268.4(NF2):c.1704G>T (p.Arg568Ser)
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NM_000268.4(NF2):c.1712G>A (p.Ser571Asn)
|
rs2067137196
|
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NM_000268.4(NF2):c.1714A>C (p.Ser572Arg)
|
rs1379683835
|
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NM_000268.4(NF2):c.1715G>A (p.Ser572Asn)
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NM_000268.4(NF2):c.1720C>A (p.His574Asn)
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NM_000268.4(NF2):c.1721A>C (p.His574Pro)
|
rs1601666509
|
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NM_000268.4(NF2):c.1721A>G (p.His574Arg)
|
rs1601666509
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NM_000268.4(NF2):c.1722C>G (p.His574Gln)
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|
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NM_000268.4(NF2):c.1726A>T (p.Thr576Ser)
|
rs1601666549
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NM_000268.4(NF2):c.1727C>A (p.Thr576Asn)
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NM_000268.4(NF2):c.1735A>C (p.Lys579Gln)
|
rs2067138432
|
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NM_000268.4(NF2):c.1738-3C>A
|
rs2147171627
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NM_000268.4(NF2):c.1738-5T>C
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NM_000268.4(NF2):c.1739_1747del (p.Leu580_Leu582del)
|
rs1060503674
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NM_000268.4(NF2):c.1741A>C (p.Thr581Pro)
|
rs1601688849
|
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NM_000268.4(NF2):c.1749G>C (p.Gln583His)
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NM_000268.4(NF2):c.174A>C (p.Glu58Asp)
|
|
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NM_000268.4(NF2):c.1753G>T (p.Ala585Ser)
|
rs145446060
|
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NM_000268.4(NF2):c.1758G>C (p.Lys586Asn)
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|
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NM_000268.4(NF2):c.1762C>T (p.Arg588Ter)
|
rs1341371726
|
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NM_000268.4(NF2):c.1769C>A (p.Ala590Asp)
|
|
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NM_000268.4(NF2):c.1769C>G (p.Ala590Gly)
|
|
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NM_000268.4(NF2):c.1770CTT[1] (p.Phe592del)
|
rs2067500115
|
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NM_000268.4(NF2):c.1780G>A (p.Glu594Lys)
|
|
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NM_000268.4(NF2):c.1783C>T (p.Leu595Phe)
|
rs1601689027
|
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NM_000268.4(NF2):c.178T>C (p.Trp60Arg)
|
|
|
NM_000268.4(NF2):c.179G>C (p.Trp60Ser)
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NM_000268.4(NF2):c.194A>G (p.Gln65Arg)
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|
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NM_000268.4(NF2):c.202A>G (p.Ile68Val)
|
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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
|
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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)
|
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|
NM_000268.4(NF2):c.231G>A (p.Met77Ile)
|
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NM_000268.4(NF2):c.231G>T (p.Met77Ile)
|
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NM_000268.4(NF2):c.235A>G (p.Lys79Glu)
|
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NM_000268.4(NF2):c.23G>A (p.Arg8His)
|
|
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NM_000268.4(NF2):c.23G>T (p.Arg8Leu)
|
rs775564806
|
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NM_000268.4(NF2):c.240+5G>A
|
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NM_000268.4(NF2):c.241G>A (p.Val81Ile)
|
|
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NM_000268.4(NF2):c.245T>C (p.Leu82Pro)
|
rs2065727847
|
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NM_000268.4(NF2):c.247G>C (p.Asp83His)
|
|
|
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>A (p.Met9Lys)
|
|
|
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.285C>A (p.His95Gln)
|
|
|
NM_000268.4(NF2):c.302A>T (p.Tyr101Phe)
|
rs1240469044
|
|
NM_000268.4(NF2):c.320A>G (p.Glu107Gly)
|
|
|
NM_000268.4(NF2):c.325C>G (p.Leu109Val)
|
|
|
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.340A>T (p.Thr114Ser)
|
|
|
NM_000268.4(NF2):c.342ACA[1] (p.Gln115del)
|
rs1601583772
|
|
NM_000268.4(NF2):c.344A>G (p.Gln115Arg)
|
|
|
NM_000268.4(NF2):c.345A>T (p.Gln115His)
|
rs746369012
|
|
NM_000268.4(NF2):c.34A>C (p.Ser12Arg)
|
|
|
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+3A>T
|
rs1060503669
|
|
NM_000268.4(NF2):c.364-3C>T
|
rs2065829595
|
|
NM_000268.4(NF2):c.364-5T>A
|
rs1330676517
|
|
NM_000268.4(NF2):c.365T>C (p.Val122Ala)
|
|
|
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.3G>A (p.Met1Ile)
|
|
|
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.445A>G (p.Lys149Glu)
|
|
|
NM_000268.4(NF2):c.447+3A>G
|
|
|
NM_000268.4(NF2):c.448-5T>C
|
rs878853928
|
|
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.464C>T (p.Pro155Leu)
|
rs2146966580
|
|
NM_000268.4(NF2):c.467G>A (p.Ser156Asn)
|
rs2146966627
|
|
NM_000268.4(NF2):c.476A>T (p.Lys159Met)
|
|
|
NM_000268.4(NF2):c.477G>T (p.Lys159Asn)
|
|
|
NM_000268.4(NF2):c.479G>A (p.Arg160Gln)
|
rs867595517
|
|
NM_000268.4(NF2):c.490G>A (p.Ala164Thr)
|
|
|
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.50A>G (p.Lys17Arg)
|
rs2064714998
|
|
NM_000268.4(NF2):c.515G>C (p.Arg172Thr)
|
|
|
NM_000268.4(NF2):c.515G>T (p.Arg172Met)
|
|
|
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.51G>T (p.Lys17Asn)
|
|
|
NM_000268.4(NF2):c.525T>A (p.Asn175Lys)
|
rs1601613495
|
|
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.554A>T (p.Glu185Val)
|
|
|
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.56C>G (p.Pro19Arg)
|
rs1601515928
|
|
NM_000268.4(NF2):c.578C>G (p.Ala193Gly)
|
|
|
NM_000268.4(NF2):c.578C>T (p.Ala193Val)
|
|
|
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.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)
|
|
|
NM_000268.4(NF2):c.599+5G>A
|
rs1601613749
|
|
NM_000268.4(NF2):c.59A>C (p.Lys20Thr)
|
|
|
NM_000268.4(NF2):c.602A>G (p.Asp201Gly)
|
rs1601618525
|
|
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.618A>C (p.Glu206Asp)
|
|
|
NM_000268.4(NF2):c.619T>A (p.Tyr207Asn)
|
|
|
NM_000268.4(NF2):c.619T>C (p.Tyr207His)
|
rs1601618565
|
|
NM_000268.4(NF2):c.61A>G (p.Thr21Ala)
|
|
|
NM_000268.4(NF2):c.620A>G (p.Tyr207Cys)
|
|
|
NM_000268.4(NF2):c.625A>G (p.Lys209Glu)
|
|
|
NM_000268.4(NF2):c.634C>G (p.Gln212Glu)
|
|
|
NM_000268.4(NF2):c.638A>G (p.Asp213Gly)
|
|
|
NM_000268.4(NF2):c.641T>A (p.Leu214Gln)
|
|
|
NM_000268.4(NF2):c.644A>C (p.Glu215Ala)
|
|
|
NM_000268.4(NF2):c.652G>T (p.Gly218Cys)
|
rs776818377
|
|
NM_000268.4(NF2):c.655G>T (p.Val219Leu)
|
|
|
NM_000268.4(NF2):c.670A>G (p.Ile224Val)
|
rs1555994825
|
|
NM_000268.4(NF2):c.672C>G (p.Ile224Met)
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NM_000268.4(NF2):c.674G>C (p.Arg225Pro)
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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.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.698T>C (p.Leu233Pro)
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NM_000268.4(NF2):c.712G>T (p.Ala238Ser)
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NM_000268.4(NF2):c.718G>T (p.Gly240Trp)
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NM_000268.4(NF2):c.719G>A (p.Gly240Glu)
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NM_000268.4(NF2):c.721C>A (p.Leu241Ile)
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NM_000268.4(NF2):c.726C>G (p.His242Gln)
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rs1480040681
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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.734A>T (p.Asp245Val)
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NM_000268.4(NF2):c.740A>G (p.Glu247Gly)
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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.754C>T (p.Pro252Ser)
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NM_000268.4(NF2):c.757A>G (p.Lys253Glu)
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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.783C>G (p.Ile261Met)
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NM_000268.4(NF2):c.790A>G (p.Ile264Val)
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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.815C>A (p.Thr272Asn)
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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.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.832A>G (p.Lys278Glu)
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NM_000268.4(NF2):c.835A>C (p.Lys279Gln)
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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.851A>G (p.Lys284Arg)
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rs764034925
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NM_000268.4(NF2):c.853T>A (p.Phe285Ile)
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NM_000268.4(NF2):c.857A>T (p.Asn286Ile)
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NM_000268.4(NF2):c.85A>G (p.Met29Val)
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rs2064717331
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NM_000268.4(NF2):c.860C>T (p.Ser287Phe)
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NM_000268.4(NF2):c.865A>G (p.Lys289Glu)
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NM_000268.4(NF2):c.868C>T (p.Leu290Phe)
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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.886A>T (p.Ile296Phe)
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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.904G>A (p.Gly302Arg)
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rs1255367068
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NM_000268.4(NF2):c.908A>C (p.Asn303Thr)
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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.938C>A (p.Ala313Asp)
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NM_000268.4(NF2):c.944C>T (p.Ser315Phe)
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NM_000268.4(NF2):c.947T>C (p.Leu316Ser)
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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)
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rs2066688680
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NM_000268.4(NF2):c.968C>G (p.Ala323Gly)
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NM_000268.4(NF2):c.979G>A (p.Glu327Lys)
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NM_000268.4(NF2):c.97A>T (p.Met33Leu)
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NM_000268.4(NF2):c.988G>A (p.Ala330Thr)
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NM_000268.4(NF2):c.991A>G (p.Arg331Gly)
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rs2147053223
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NM_000268.4(NF2):c.996G>T (p.Lys332Asn)
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NM_000268.4(NF2):c.999+5G>A
|
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