ClinVar Miner

List of variants in gene NF2 studied for Neurofibromatosis, type 2

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1584
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HGVS dbSNP gnomAD frequency
NM_000268.4(NF2):c.1575-67G>A rs140086 0.99995
NM_000268.4(NF2):c.*2876T>C rs5763431 0.31213
NM_000268.4(NF2):c.*2468C>G rs1034880 0.30558
NM_000268.4(NF2):c.*354T>C rs1008515 0.23305
NM_000268.4(NF2):c.*1208C>T rs2530680 0.23028
NM_000268.4(NF2):c.*1904A>G rs73390944 0.15076
NM_000268.4(NF2):c.*3274G>A rs11090576 0.14218
NM_000268.4(NF2):c.*2235G>A rs5997506 0.14204
NM_000268.4(NF2):c.364-39A>C rs2530664 0.14175
NM_000268.4(NF2):c.*1792G>A rs17462054 0.09370
NM_000268.4(NF2):c.*2224A>G rs112175950 0.07518
NM_000268.4(NF2):c.*974C>T rs8140096 0.05362
NM_000268.4(NF2):c.*2759G>A rs5763430 0.04278
NM_000268.4(NF2):c.*3575G>A rs41278851 0.01965
NM_000268.4(NF2):c.*1640A>C rs138312881 0.01614
NM_000268.4(NF2):c.*2455T>C rs73159090 0.01308
NM_000268.4(NF2):c.*2922G>A rs112930471 0.01227
NM_000268.4(NF2):c.*2408G>A rs114416141 0.01032
NM_000268.4(NF2):c.*1270T>C rs542927614 0.00992
NM_000268.4(NF2):c.*3208G>A rs117863523 0.00549
NM_000268.4(NF2):c.*2841C>T rs142797364 0.00410
NM_000268.4(NF2):c.*1087C>T rs148973148 0.00248
NM_000268.4(NF2):c.*359G>A rs572307337 0.00217
NM_000268.4(NF2):c.448-17C>T rs190596693 0.00215
NM_000268.4(NF2):c.*1618T>C rs184477204 0.00213
NM_000268.4(NF2):c.*2266C>T rs563567208 0.00211
NM_000268.4(NF2):c.*2311G>A rs113956497 0.00203
NM_000268.4(NF2):c.1123-6C>T rs147898623 0.00173
NM_000268.4(NF2):c.*1438A>G rs376061969 0.00167
NM_000268.4(NF2):c.*4G>A rs141099051 0.00165
NM_000268.4(NF2):c.*1287T>C rs1323789315 0.00141
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.599+40C>T rs1292869497 0.00079
NM_000268.4(NF2):c.*2365C>T rs765602116 0.00078
NM_000268.4(NF2):c.811-17C>G rs180790168 0.00072
NM_000268.4(NF2):c.*720G>A rs184043147 0.00065
NM_000268.4(NF2):c.1737+2098A>G rs75296199 0.00053
NM_000268.4(NF2):c.*3313A>T rs188812769 0.00047
NM_000268.4(NF2):c.1387G>A (p.Glu463Lys) rs74315503 0.00044
NM_000268.4(NF2):c.*2245C>G rs555359252 0.00043
NM_000268.4(NF2):c.*1672C>T rs757272448 0.00041
NM_000268.4(NF2):c.*388C>T rs777219109 0.00041
NM_000268.4(NF2):c.1753G>A (p.Ala585Thr) rs145446060 0.00040
NM_000268.4(NF2):c.*420C>T rs541235064 0.00038
NM_000268.4(NF2):c.1113C>T (p.Asn371=) rs142459414 0.00033
NM_000268.4(NF2):c.*3133A>G rs527795536 0.00032
NM_000268.4(NF2):c.886-15C>T rs200837904 0.00030
NM_000268.4(NF2):c.*2487A>G rs550207111 0.00029
NM_000268.4(NF2):c.1340+8G>T rs370604189 0.00029
NM_000268.4(NF2):c.-18G>A rs201591536 0.00026
NM_000268.4(NF2):c.246G>A (p.Leu82=) rs371270318 0.00021
NM_000268.4(NF2):c.*1652G>T rs751068883 0.00019
NM_000268.4(NF2):c.1639G>A (p.Glu547Lys) rs199669486 0.00019
NM_000268.4(NF2):c.*503C>T rs191509325 0.00016
NM_000268.4(NF2):c.114+20G>T rs746868503 0.00016
NM_000268.4(NF2):c.1749G>A (p.Gln583=) rs201911915 0.00016
NM_000268.4(NF2):c.363+19C>A rs202225081 0.00016
NM_000268.4(NF2):c.613A>G (p.Met205Val) rs141629512 0.00016
NM_000268.4(NF2):c.*1159G>A rs963216314 0.00015
NM_000268.4(NF2):c.*1823C>T rs190590507 0.00015
NM_000268.4(NF2):c.*2911C>T rs908552289 0.00014
NM_000268.4(NF2):c.*3107T>G rs886057381 0.00014
NM_000268.4(NF2):c.107A>G (p.Asn36Ser) rs372279458 0.00014
NM_000268.4(NF2):c.240+15C>T rs200701337 0.00014
NM_000268.4(NF2):c.1439C>T (p.Thr480Met) rs145666157 0.00013
NM_000268.4(NF2):c.652G>A (p.Gly218Ser) rs776818377 0.00013
NM_000268.4(NF2):c.1505G>A (p.Gly502Asp) rs552115565 0.00012
NM_000268.4(NF2):c.*3083C>T rs774123103 0.00011
NM_000268.4(NF2):c.1000-16T>C rs201183251 0.00011
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.999+15G>A rs367716680 0.00011
NM_000268.4(NF2):c.*3644C>T rs372862060 0.00010
NM_000268.4(NF2):c.*957C>T rs531577838 0.00010
NM_000268.4(NF2):c.1445C>G (p.Pro482Arg) rs766339217 0.00010
NM_000268.4(NF2):c.1737+1432G>A rs746764835 0.00010
NM_000268.4(NF2):c.771G>A (p.Pro257=) rs759032771 0.00010
NM_000268.4(NF2):c.*1294T>G rs886057355 0.00009
NM_000268.4(NF2):c.*3645G>A rs940585787 0.00009
NM_000268.4(NF2):c.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.*532G>T rs886057346 0.00008
NM_000268.4(NF2):c.48G>A (p.Arg16=) rs774973059 0.00008
NM_000268.4(NF2):c.*1538C>G rs766153036 0.00007
NM_000268.4(NF2):c.*284C>T rs970058734 0.00007
NM_000268.4(NF2):c.*695C>T rs903678547 0.00007
NM_000268.4(NF2):c.*106C>T rs886057338 0.00006
NM_000268.4(NF2):c.*335C>T rs886057345 0.00006
NM_000268.4(NF2):c.*3646C>T rs886057390 0.00006
NM_000268.4(NF2):c.*561C>G rs776610927 0.00006
NM_000268.4(NF2):c.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.*136G>A rs886057340 0.00005
NM_000268.4(NF2):c.*189A>C rs754717476 0.00005
NM_000268.4(NF2):c.*944G>A rs918313102 0.00005
NM_000268.4(NF2):c.1698C>T (p.Ser566=) rs751987156 0.00005
NM_000268.4(NF2):c.599+17G>A rs759475738 0.00005
NM_000268.4(NF2):c.947T>G (p.Leu316Trp) rs750633919 0.00005
NM_000268.4(NF2):c.*3720C>A rs1254681428 0.00004
NM_000268.4(NF2):c.*704del rs567370520 0.00004
NM_000268.4(NF2):c.1000-7C>G rs776237839 0.00004
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.1446+10G>C rs563968726 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.364-9T>C rs767658752 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.*2310C>T rs777037756 0.00003
NM_000268.4(NF2):c.*3055C>T rs886057380 0.00003
NM_000268.4(NF2):c.1055C>T (p.Thr352Met) rs764441073 0.00003
NM_000268.4(NF2):c.1123-18G>C rs1439195208 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.676-20T>C rs187831823 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.810+8_810+9del rs760095910 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.*204C>T rs994080977 0.00002
NM_000268.4(NF2):c.*2113C>T rs537244098 0.00002
NM_000268.4(NF2):c.*2332C>T rs1366330139 0.00002
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.1340+14G>A rs776008972 0.00002
NM_000268.4(NF2):c.1391C>T (p.Ala464Val) rs776109136 0.00002
NM_000268.4(NF2):c.1447-11C>T rs571246532 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.1575-6C>T rs1350177470 0.00002
NM_000268.4(NF2):c.1699G>A (p.Asp567Asn) rs757586383 0.00002
NM_000268.4(NF2):c.1737+12C>T rs1556003806 0.00002
NM_000268.4(NF2):c.1738-19C>A rs958907803 0.00002
NM_000268.4(NF2):c.515G>A (p.Arg172Lys) rs752963731 0.00002
NM_000268.4(NF2):c.599+3G>A rs768301915 0.00002
NM_000268.4(NF2):c.600-13G>A rs374509697 0.00002
NM_000268.4(NF2):c.614T>C (p.Met205Thr) rs747871414 0.00002
NM_000268.4(NF2):c.651C>T (p.Tyr217=) rs367802186 0.00002
NM_000268.4(NF2):c.676-12T>C rs1273140767 0.00002
NM_000268.4(NF2):c.676-9G>T rs372014704 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.*1326T>C rs886057358 0.00001
NM_000268.4(NF2):c.*2003T>G rs886057367 0.00001
NM_000268.4(NF2):c.*3018C>T rs886057379 0.00001
NM_000268.4(NF2):c.*3671G>A rs945192133 0.00001
NM_000268.4(NF2):c.*397C>T rs1196661857 0.00001
NM_000268.4(NF2):c.*942C>T rs928342675 0.00001
NM_000268.4(NF2):c.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.1032G>A (p.Gln344=) rs1431506727 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.1074G>C (p.Arg358Ser) rs770949972 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.1123-17A>G rs1201867877 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.114+15G>T rs1204686249 0.00001
NM_000268.4(NF2):c.114+17C>T rs758340243 0.00001
NM_000268.4(NF2):c.114+18C>G rs2064719831 0.00001
NM_000268.4(NF2):c.114+19C>G rs551869962 0.00001
NM_000268.4(NF2):c.114+6C>T rs1060503671 0.00001
NM_000268.4(NF2):c.115-15G>T rs748169607 0.00001
NM_000268.4(NF2):c.115-4G>A rs2065657756 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.1231C>G (p.Arg411Gly) rs773296925 0.00001
NM_000268.4(NF2):c.1232G>A (p.Arg411His) rs201214090 0.00001
NM_000268.4(NF2):c.1247C>T (p.Ala416Val) rs2066862902 0.00001
NM_000268.4(NF2):c.1253G>A (p.Arg418His) rs548217466 0.00001
NM_000268.4(NF2):c.1270C>T (p.Arg424Cys) rs763826793 0.00001
NM_000268.4(NF2):c.1271G>A (p.Arg424His) rs751182657 0.00001
NM_000268.4(NF2):c.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.1340+6G>T rs914659916 0.00001
NM_000268.4(NF2):c.1350G>A (p.Glu450=) rs1231236846 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.1442A>G (p.Tyr481Cys) rs2066916034 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.1446+9G>A rs778709917 0.00001
NM_000268.4(NF2):c.1446G>A (p.Pro482=) rs753751373 0.00001
NM_000268.4(NF2):c.1447-18G>A rs774871889 0.00001
NM_000268.4(NF2):c.1447-19C>T rs769222192 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.1509C>T (p.Asp503=) rs2067025973 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.1574+10C>T rs1469555294 0.00001
NM_000268.4(NF2):c.1574+11C>A rs772457573 0.00001
NM_000268.4(NF2):c.1574+11C>T rs772457573 0.00001
NM_000268.4(NF2):c.1575-13C>T rs758788881 0.00001
NM_000268.4(NF2):c.1575-16A>G rs753266591 0.00001
NM_000268.4(NF2):c.1581A>T (p.Glu527Asp) rs770627371 0.00001
NM_000268.4(NF2):c.1586T>C (p.Met529Thr) rs780818183 0.00001
NM_000268.4(NF2):c.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.240+16G>A rs776888731 0.00001
NM_000268.4(NF2):c.240+18T>A rs759889778 0.00001
NM_000268.4(NF2):c.240+6G>C rs771417406 0.00001
NM_000268.4(NF2):c.241-11C>T rs1440173583 0.00001
NM_000268.4(NF2):c.241-14C>G rs775172700 0.00001
NM_000268.4(NF2):c.241-5T>C rs1378725834 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.319G>A (p.Glu107Lys) rs1435118870 0.00001
NM_000268.4(NF2):c.343C>G (p.Gln115Glu) rs1350618734 0.00001
NM_000268.4(NF2):c.347A>G (p.His116Arg) rs371373672 0.00001
NM_000268.4(NF2):c.363+11C>G rs780429668 0.00001
NM_000268.4(NF2):c.363+5A>G rs1361659919 0.00001
NM_000268.4(NF2):c.364-12T>C rs200429883 0.00001
NM_000268.4(NF2):c.364-15_364-14insC rs780097279 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.448-16C>A rs947197160 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.531T>C (p.Tyr177=) rs780880330 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.57C>G (p.Pro19=) rs541641232 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.599+14A>G rs776695678 0.00001
NM_000268.4(NF2):c.600-14C>T rs376980938 0.00001
NM_000268.4(NF2):c.600-6C>T rs749155274 0.00001
NM_000268.4(NF2):c.600-8C>T rs1052474320 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+16T>C rs899882527 0.00001
NM_000268.4(NF2):c.675+4T>C rs1306740609 0.00001
NM_000268.4(NF2):c.675+6T>C rs1349181077 0.00001
NM_000268.4(NF2):c.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.762C>A (p.Ile254=) rs765985886 0.00001
NM_000268.4(NF2):c.769C>T (p.Pro257Ser) rs777059212 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.810+8A>G rs1433160885 0.00001
NM_000268.4(NF2):c.826C>T (p.Leu276=) rs764702893 0.00001
NM_000268.4(NF2):c.827T>C (p.Leu276Pro) rs549225513 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.886-19T>G rs374589041 0.00001
NM_000268.4(NF2):c.886-20G>A rs767370654 0.00001
NM_000268.4(NF2):c.886-5C>T rs1157713907 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
NC_000022.10:g.(?_29998545)_(30095589_?)del
NC_000022.10:g.(?_29999982)_(30000107_?)dup
NC_000022.10:g.(?_29999982)_(30090797_?)del
NC_000022.10:g.(?_29999988)_(30032875_?)del
NC_000022.10:g.(?_29999988)_(30090791_?)del
NC_000022.10:g.(?_30032730)_(30064445_?)del
NC_000022.10:g.(?_30032730)_(30090791_?)del
NC_000022.10:g.(?_30032730)_(30090791_?)dup
NC_000022.10:g.(?_30035073)_(30035207_?)del
NC_000022.10:g.(?_30050636)_(30050946_?)del
NC_000022.10:g.(?_30050636)_(30051675_?)del
NC_000022.10:g.(?_30051485)_30051628del
NC_000022.10:g.(?_30064316)_(30067943_?)del
NC_000022.10:g.(?_30070815)_(30077600_?)del
NC_000022.10:g.(?_30070819)_(30090797_?)dup
NC_000022.10:g.(?_30074175)_(30077600_?)del
NC_000022.10:g.(?_30074175)_(30090791_?)dup
NC_000022.10:g.(?_30077418)_(30090791_?)del
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.(?_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
NM_000268.3(NF2):c.-443-?_*3798+?del
NM_000268.4(NF2):c.*1007C>A rs886057350
NM_000268.4(NF2):c.*109G>T rs886057339
NM_000268.4(NF2):c.*1111G>T rs886057351
NM_000268.4(NF2):c.*1260dup rs886057352
NM_000268.4(NF2):c.*1264C>T rs879093980
NM_000268.4(NF2):c.*1264del rs886057353
NM_000268.4(NF2):c.*1287dup rs886057354
NM_000268.4(NF2):c.*1297A>G rs886057356
NM_000268.4(NF2):c.*1320_*1325del rs148703036
NM_000268.4(NF2):c.*1418T>C rs2067549880
NM_000268.4(NF2):c.*1439T>C rs886057359
NM_000268.4(NF2):c.*1522C>A rs886057360
NM_000268.4(NF2):c.*1559C>A rs886057361
NM_000268.4(NF2):c.*158T>C rs886057341
NM_000268.4(NF2):c.*1624G>A rs2067554749
NM_000268.4(NF2):c.*1668G>T rs2067555780
NM_000268.4(NF2):c.*1736T>A rs2067557400
NM_000268.4(NF2):c.*1737C>A rs886057362
NM_000268.4(NF2):c.*1782T>C rs886057363
NM_000268.4(NF2):c.*1848C>T rs886057364
NM_000268.4(NF2):c.*199C>A rs886057342
NM_000268.4(NF2):c.*2007del rs886057365
NM_000268.4(NF2):c.*2007dup rs886057365
NM_000268.4(NF2):c.*2010G>T rs886057368
NM_000268.4(NF2):c.*2020C>T rs886057370
NM_000268.4(NF2):c.*2021dup rs886057369
NM_000268.4(NF2):c.*2031_*2032dup rs11442202
NM_000268.4(NF2):c.*2032dup rs11442202
NM_000268.4(NF2):c.*2039dup rs886057371
NM_000268.4(NF2):c.*2068G>T rs886057372
NM_000268.4(NF2):c.*2077C>T rs144993615
NM_000268.4(NF2):c.*2153T>C rs2067569610
NM_000268.4(NF2):c.*2205G>A rs886057373
NM_000268.4(NF2):c.*2206G>A rs886057374
NM_000268.4(NF2):c.*2215A>G rs1268927936
NM_000268.4(NF2):c.*2369T>C rs150581809
NM_000268.4(NF2):c.*2373C>A rs886057375
NM_000268.4(NF2):c.*2396G>T rs886057376
NM_000268.4(NF2):c.*2445G>A rs2067578496
NM_000268.4(NF2):c.*2499C>A rs569992376
NM_000268.4(NF2):c.*256T>C rs2067510752
NM_000268.4(NF2):c.*2612T>C rs2067582962
NM_000268.4(NF2):c.*266G>T rs886057343
NM_000268.4(NF2):c.*2670C>A rs763727745
NM_000268.4(NF2):c.*2753A>G rs199805259
NM_000268.4(NF2):c.*2803C>A rs886057377
NM_000268.4(NF2):c.*293C>A rs886057344
NM_000268.4(NF2):c.*2999G>C rs886057378
NM_000268.4(NF2):c.*3140G>T rs886057382
NM_000268.4(NF2):c.*3189G>T rs886057383
NM_000268.4(NF2):c.*3266C>A rs886057384
NM_000268.4(NF2):c.*3298G>T rs886057385
NM_000268.4(NF2):c.*3319del rs372162228
NM_000268.4(NF2):c.*3443G>T rs886057387
NM_000268.4(NF2):c.*3480T>G rs886057388
NM_000268.4(NF2):c.*3603A>C rs557359614
NM_000268.4(NF2):c.*3613_*3618del rs755969033
NM_000268.4(NF2):c.*3670C>T rs886057391
NM_000268.4(NF2):c.*3715C>A rs886057392
NM_000268.4(NF2):c.*3765G>T rs889238499
NM_000268.4(NF2):c.*3783T>C rs886057393
NM_000268.4(NF2):c.*527G>T rs985623687
NM_000268.4(NF2):c.*52C>A rs370016332
NM_000268.4(NF2):c.*573C>T rs543669369
NM_000268.4(NF2):c.*587G>T rs886057347
NM_000268.4(NF2):c.*758G>A rs2067527551
NM_000268.4(NF2):c.*768_*769dup rs886057348
NM_000268.4(NF2):c.*801A>G rs2067528675
NM_000268.4(NF2):c.*860C>T rs962811939
NM_000268.4(NF2):c.*913C>T rs2067531367
NM_000268.4(NF2):c.*937C>T rs2067531980
NM_000268.4(NF2):c.*977C>T rs868389072
NM_000268.4(NF2):c.*987C>A rs886057349
NM_000268.4(NF2):c.1000-10C>T
NM_000268.4(NF2):c.1000-11A>G rs2147070569
NM_000268.4(NF2):c.1000-16T>A rs201183251
NM_000268.4(NF2):c.1000-17T>C
NM_000268.4(NF2):c.1000-2A>G
NM_000268.4(NF2):c.1000-7C>A rs776237839
NM_000268.4(NF2):c.1000-7C>T rs776237839
NM_000268.4(NF2):c.1000-9C>T rs770827220
NM_000268.4(NF2):c.1000A>G (p.Met334Val) rs1556000094
NM_000268.4(NF2):c.1003G>A (p.Glu335Lys) rs1601643866
NM_000268.4(NF2):c.1003G>T (p.Glu335Ter) rs1601643866
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.1006dup (p.Arg336fs) rs1601643896
NM_000268.4(NF2):c.1008G>A (p.Arg336=) rs2147071211
NM_000268.4(NF2):c.1011G>A (p.Gln337=) rs2147071333
NM_000268.4(NF2):c.1015dup (p.Leu339fs)
NM_000268.4(NF2):c.1017C>A (p.Leu339=)
NM_000268.4(NF2):c.1018G>T (p.Ala340Ser) rs780430071
NM_000268.4(NF2):c.1019_1022del (p.Ala340fs)
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>C (p.Arg341Pro) rs754087071
NM_000268.4(NF2):c.1022G>T (p.Arg341Leu) rs754087071
NM_000268.4(NF2):c.1022del (p.Arg341fs) rs2147071740
NM_000268.4(NF2):c.1024G>C (p.Glu342Gln)
NM_000268.4(NF2):c.1025A>C (p.Glu342Ala)
NM_000268.4(NF2):c.1026del (p.Lys343fs)
NM_000268.4(NF2):c.1029G>A (p.Lys343=)
NM_000268.4(NF2):c.102G>A (p.Glu34=) rs2146661007
NM_000268.4(NF2):c.1031A>G (p.Gln344Arg)
NM_000268.4(NF2):c.1037G>A (p.Arg346Lys) rs1556000154
NM_000268.4(NF2):c.1038G>A (p.Arg346=)
NM_000268.4(NF2):c.1038G>T (p.Arg346Ser) rs2066801644
NM_000268.4(NF2):c.1039G>T (p.Glu347Ter)
NM_000268.4(NF2):c.1043A>T (p.Glu348Val)
NM_000268.4(NF2):c.1048G>A (p.Glu350Lys) rs778412102
NM_000268.4(NF2):c.104T>G (p.Phe35Cys)
NM_000268.4(NF2):c.1050A>G (p.Glu350=) rs2147072412
NM_000268.4(NF2):c.1051del (p.Arg351fs) rs2147072473
NM_000268.4(NF2):c.1055C>G (p.Thr352Arg)
NM_000268.4(NF2):c.1058G>A (p.Arg353Lys) rs2147072682
NM_000268.4(NF2):c.1059G>A (p.Arg353=) rs1379674036
NM_000268.4(NF2):c.1059G>C (p.Arg353Ser) rs1379674036
NM_000268.4(NF2):c.105C>G (p.Phe35Leu)
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.1060G>C (p.Asp354His) rs1435353346
NM_000268.4(NF2):c.1060del (p.Asp354fs) rs1601644146
NM_000268.4(NF2):c.1061A>C (p.Asp354Ala) rs1601644179
NM_000268.4(NF2):c.1064A>G (p.Glu355Gly)
NM_000268.4(NF2):c.1066T>A (p.Leu356Met) rs1178334764
NM_000268.4(NF2):c.1068G>A (p.Leu356=)
NM_000268.4(NF2):c.106A>G (p.Asn36Asp)
NM_000268.4(NF2):c.1072A>G (p.Arg358Gly) rs2147073033
NM_000268.4(NF2):c.1074G>A (p.Arg358=)
NM_000268.4(NF2):c.1074del (p.Arg359fs) rs2147073084
NM_000268.4(NF2):c.1075A>G (p.Arg359Gly)
NM_000268.4(NF2):c.1078C>T (p.Leu360=) rs2066804153
NM_000268.4(NF2):c.1079T>C (p.Leu360Pro) rs74315492
NM_000268.4(NF2):c.1080G>C (p.Leu360=) rs2066804400
NM_000268.4(NF2):c.1080_1081delinsTT (p.Leu360_Leu361=)
NM_000268.4(NF2):c.1081C>T (p.Leu361=) rs1299012538
NM_000268.4(NF2):c.1084C>T (p.Gln362Ter)
NM_000268.4(NF2):c.1085A>G (p.Gln362Arg)
NM_000268.4(NF2):c.1087A>G (p.Met363Val) rs776499914
NM_000268.4(NF2):c.1088T>A (p.Met363Lys) rs2066804849
NM_000268.4(NF2):c.1088T>C (p.Met363Thr)
NM_000268.4(NF2):c.1088T>G (p.Met363Arg) rs2066804849
NM_000268.4(NF2):c.1089G>A (p.Met363Ile)
NM_000268.4(NF2):c.1092A>G (p.Lys364=) rs1601644296
NM_000268.4(NF2):c.1092A>T (p.Lys364Asn) rs1601644296
NM_000268.4(NF2):c.1096_1097del (p.Glu366fs)
NM_000268.4(NF2):c.10G>T (p.Ala4Ser) rs2146659577
NM_000268.4(NF2):c.10del (p.Ala4fs) rs2064712705
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) rs1325119842
NM_000268.4(NF2):c.1107G>A (p.Met369Ile)
NM_000268.4(NF2):c.110G>A (p.Cys37Tyr)
NM_000268.4(NF2):c.1113C>G (p.Asn371Lys) rs142459414
NM_000268.4(NF2):c.1117G>A (p.Ala373Thr)
NM_000268.4(NF2):c.111C>A (p.Cys37Ter)
NM_000268.4(NF2):c.111C>T (p.Cys37=) rs1302428933
NM_000268.4(NF2):c.1122+10G>A rs2147074501
NM_000268.4(NF2):c.1122+13G>T
NM_000268.4(NF2):c.1122+15G>A
NM_000268.4(NF2):c.1122+15G>C
NM_000268.4(NF2):c.1122+16del rs2147074604
NM_000268.4(NF2):c.1122+17T>G
NM_000268.4(NF2):c.1122+1G>A rs1569304774
NM_000268.4(NF2):c.1122+3G>T
NM_000268.4(NF2):c.1122G>A (p.Leu374=)
NM_000268.4(NF2):c.1123-11G>A
NM_000268.4(NF2):c.1123-13C>T
NM_000268.4(NF2):c.1123-2A>G rs2147082167
NM_000268.4(NF2):c.1123-6C>G
NM_000268.4(NF2):c.1123-7C>G rs559511611
NM_000268.4(NF2):c.1123-7C>T
NM_000268.4(NF2):c.1123-9G>A
NM_000268.4(NF2):c.1123A>G (p.Met375Val) rs2147082175
NM_000268.4(NF2):c.1124T>C (p.Met375Thr) rs1556000763
NM_000268.4(NF2):c.1127G>A (p.Arg376Gln) rs996964764
NM_000268.4(NF2):c.1127G>T (p.Arg376Leu) rs996964764
NM_000268.4(NF2):c.1129T>G (p.Ser377Ala) rs1569305865
NM_000268.4(NF2):c.112G>T (p.Glu38Ter)
NM_000268.4(NF2):c.1130C>G (p.Ser377Cys)
NM_000268.4(NF2):c.1131T>A (p.Ser377=)
NM_000268.4(NF2):c.1131T>C (p.Ser377=)
NM_000268.4(NF2):c.1134G>A (p.Glu378=)
NM_000268.4(NF2):c.114+10C>G rs1569259897
NM_000268.4(NF2):c.114+10C>T rs1569259897
NM_000268.4(NF2):c.114+11G>A
NM_000268.4(NF2):c.114+19C>T
NM_000268.4(NF2):c.114+19del
NM_000268.4(NF2):c.114+1G>A rs2146661259
NM_000268.4(NF2):c.114+1G>T rs2146661259
NM_000268.4(NF2):c.114+20G>A rs746868503
NM_000268.4(NF2):c.114+4A>G rs1207246677
NM_000268.4(NF2):c.114+4A>T rs1207246677
NM_000268.4(NF2):c.114+6C>A rs1060503671
NM_000268.4(NF2):c.114+6C>G rs1060503671
NM_000268.4(NF2):c.114+6dup
NM_000268.4(NF2):c.114+7G>A rs2146661325
NM_000268.4(NF2):c.114+7G>T
NM_000268.4(NF2):c.1140A>G (p.Thr380=)
NM_000268.4(NF2):c.1149G>A (p.Leu383=) rs2147082336
NM_000268.4(NF2):c.115-10G>A rs2065657426
NM_000268.4(NF2):c.115-16T>C
NM_000268.4(NF2):c.115-17T>C
NM_000268.4(NF2):c.115-17T>G
NM_000268.4(NF2):c.115-18A>G
NM_000268.4(NF2):c.115-1G>A rs2065657938
NM_000268.4(NF2):c.115-20_115-19delinsGT
NM_000268.4(NF2):c.115-3C>T rs2065657841
NM_000268.4(NF2):c.115-6T>C rs2146851312
NM_000268.4(NF2):c.115-7A>T
NM_000268.4(NF2):c.115-8101del rs5844863
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.1162del (p.Ala388fs) rs2066859618
NM_000268.4(NF2):c.1163C>T (p.Ala388Val) rs587778553
NM_000268.4(NF2):c.1165C>G (p.Gln389Glu) rs2066859953
NM_000268.4(NF2):c.1170C>T (p.Ile390=) rs2147082537
NM_000268.4(NF2):c.1171A>T (p.Thr391Ser)
NM_000268.4(NF2):c.1173C>G (p.Thr391=) rs769454739
NM_000268.4(NF2):c.1174G>T (p.Glu392Ter)
NM_000268.4(NF2):c.1175AGG[4] (p.Glu394_Ala395insGlu)
NM_000268.4(NF2):c.1179G>A (p.Glu393=) rs1601648277
NM_000268.4(NF2):c.1189C>G (p.Leu397Val)
NM_000268.4(NF2):c.118A>T (p.Lys40Ter)
NM_000268.4(NF2):c.1191T>G (p.Leu397=)
NM_000268.4(NF2):c.1193T>C (p.Leu398Pro) rs2147082680
NM_000268.4(NF2):c.1195G>A (p.Ala399Thr) rs2147082690
NM_000268.4(NF2):c.1197C>T (p.Ala399=) rs952523049
NM_000268.4(NF2):c.1198C>T (p.Gln400Ter) rs2147082728
NM_000268.4(NF2):c.1198del (p.Gln400fs)
NM_000268.4(NF2):c.1202A>G (p.Lys401Arg)
NM_000268.4(NF2):c.1203G>T (p.Lys401Asn)
NM_000268.4(NF2):c.1206C>G (p.Ala402=) rs137953976
NM_000268.4(NF2):c.1207G>A (p.Ala403Thr) rs2066861004
NM_000268.4(NF2):c.1207G>T (p.Ala403Ser) rs2066861004
NM_000268.4(NF2):c.1209A>G (p.Ala403=) rs1026655770
NM_000268.4(NF2):c.1210G>T (p.Glu404Ter) rs2066861383
NM_000268.4(NF2):c.1218G>A (p.Glu406=) rs2147082887
NM_000268.4(NF2):c.1219C>T (p.Gln407Ter) rs74315501
NM_000268.4(NF2):c.1223A>G (p.Glu408Gly)
NM_000268.4(NF2):c.1226T>C (p.Met409Thr)
NM_000268.4(NF2):c.1229del (p.Gln410fs) rs1601648452
NM_000268.4(NF2):c.1229dup (p.Arg411fs)
NM_000268.4(NF2):c.122G>A (p.Trp41Ter) rs1555986860
NM_000268.4(NF2):c.1234A>C (p.Ile412Leu) rs2066862452
NM_000268.4(NF2):c.1234A>G (p.Ile412Val) rs2066862452
NM_000268.4(NF2):c.1236C>T (p.Ile412=) rs2147083077
NM_000268.4(NF2):c.1237A>G (p.Lys413Glu) rs766974263
NM_000268.4(NF2):c.1240G>A (p.Ala414Thr) rs2147083098
NM_000268.4(NF2):c.1242C>T (p.Ala414=) rs1569306011
NM_000268.4(NF2):c.1243A>G (p.Thr415Ala) rs776970251
NM_000268.4(NF2):c.1245A>G (p.Thr415=) rs2147083167
NM_000268.4(NF2):c.1247C>G (p.Ala416Gly)
NM_000268.4(NF2):c.1248G>T (p.Ala416=)
NM_000268.4(NF2):c.1256C>A (p.Thr419Lys)
NM_000268.4(NF2):c.1256C>G (p.Thr419Arg)
NM_000268.4(NF2):c.1256C>T (p.Thr419Met) rs1216540232
NM_000268.4(NF2):c.1257G>C (p.Thr419=) rs375969005
NM_000268.4(NF2):c.1258GAG[2] (p.Glu422del) rs2066863778
NM_000268.4(NF2):c.1261G>T (p.Glu421Ter) rs2147083330
NM_000268.4(NF2):c.1263G>A (p.Glu421=)
NM_000268.4(NF2):c.1263G>C (p.Glu421Asp) rs2147083348
NM_000268.4(NF2):c.1264G>A (p.Glu422Lys) rs2066864084
NM_000268.4(NF2):c.1264G>T (p.Glu422Ter) rs2066864084
NM_000268.4(NF2):c.1268A>C (p.Lys423Thr)
NM_000268.4(NF2):c.1268A>G (p.Lys423Arg) rs2147083382
NM_000268.4(NF2):c.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.1275G>C (p.Leu425=) rs1413652327
NM_000268.4(NF2):c.1276A>G (p.Met426Val)
NM_000268.4(NF2):c.1278G>A (p.Met426Ile)
NM_000268.4(NF2):c.1280A>C (p.Glu427Ala) rs760382219
NM_000268.4(NF2):c.1280A>G (p.Glu427Gly)
NM_000268.4(NF2):c.1284del (p.Lys429fs)
NM_000268.4(NF2):c.1288G>T (p.Val430Leu) rs1361867592
NM_000268.4(NF2):c.1291C>T (p.Leu431=) rs1297186898
NM_000268.4(NF2):c.1292T>A (p.Leu431Gln)
NM_000268.4(NF2):c.1293G>A (p.Leu431=) rs1340711783
NM_000268.4(NF2):c.1295A>G (p.Glu432Gly)
NM_000268.4(NF2):c.1297G>A (p.Ala433Thr) rs1449875899
NM_000268.4(NF2):c.1298C>T (p.Ala433Val) rs779721863
NM_000268.4(NF2):c.129G>A (p.Gly43=) rs2146851832
NM_000268.4(NF2):c.129G>C (p.Gly43=)
NM_000268.4(NF2):c.12_13inv (p.Ile5Val)
NM_000268.4(NF2):c.1300G>T (p.Glu434Ter) 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.1308G>A (p.Leu436=) rs2147083837
NM_000268.4(NF2):c.130A>G (p.Lys44Glu) rs2146851850
NM_000268.4(NF2):c.1312C>T (p.Leu438=)
NM_000268.4(NF2):c.1317G>A (p.Lys439=) rs1556000937
NM_000268.4(NF2):c.1320G>A (p.Met440Ile) rs2147083988
NM_000268.4(NF2):c.1321G>A (p.Ala441Thr)
NM_000268.4(NF2):c.1321G>C (p.Ala441Pro) rs2147084012
NM_000268.4(NF2):c.1323T>A (p.Ala441=) rs1556000942
NM_000268.4(NF2):c.1324G>A (p.Glu442Lys)
NM_000268.4(NF2):c.1327G>A (p.Glu443Lys) rs1181051479
NM_000268.4(NF2):c.132G>A (p.Lys44=) rs1224221346
NM_000268.4(NF2):c.1332A>G (p.Ser444=) rs2147084157
NM_000268.4(NF2):c.1334_1337del (p.Glu445fs) rs1601649018
NM_000268.4(NF2):c.1336A>G (p.Arg446Gly) rs1335612753
NM_000268.4(NF2):c.1338G>A (p.Arg446=)
NM_000268.4(NF2):c.1339A>G (p.Arg447Gly) rs2147084234
NM_000268.4(NF2):c.133G>A (p.Asp45Asn) rs370147621
NM_000268.4(NF2):c.1340+13C>T
NM_000268.4(NF2):c.1340+16G>A rs2147084463
NM_000268.4(NF2):c.1340+19C>T rs2147084493
NM_000268.4(NF2):c.1340+19_1340+20insTGGCGAG
NM_000268.4(NF2):c.1340+1G>T rs2147084279
NM_000268.4(NF2):c.1340+20C>G
NM_000268.4(NF2):c.1340+2T>G rs1601649049
NM_000268.4(NF2):c.1340+5G>A
NM_000268.4(NF2):c.1340+5G>C
NM_000268.4(NF2):c.1340+7_1340+32del
NM_000268.4(NF2):c.1340G>T (p.Arg447Met) rs2066868182
NM_000268.4(NF2):c.1341-10T>G
NM_000268.4(NF2):c.1341-13C>T
NM_000268.4(NF2):c.1341-15A>G
NM_000268.4(NF2):c.1341-15A>T
NM_000268.4(NF2):c.1341-16C>T
NM_000268.4(NF2):c.1341-1G>A rs2147091894
NM_000268.4(NF2):c.1341-20A>G
NM_000268.4(NF2):c.1341-5del rs2147091806
NM_000268.4(NF2):c.1341-7C>T rs574718828
NM_000268.4(NF2):c.1341-8C>T
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.1346A>G (p.Lys449Arg)
NM_000268.4(NF2):c.1346_1347del (p.Lys449fs) rs1556001351
NM_000268.4(NF2):c.1351G>A (p.Ala451Thr)
NM_000268.4(NF2):c.1353A>G (p.Ala451=) rs2147092112
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.1364A>C (p.Lys455Thr)
NM_000268.4(NF2):c.1366C>G (p.Gln456Glu) rs867419294
NM_000268.4(NF2):c.1368G>A (p.Gln456=)
NM_000268.4(NF2):c.1370A>T (p.Asp457Val) rs2066912673
NM_000268.4(NF2):c.1371C>A (p.Asp457Glu) rs1220807117
NM_000268.4(NF2):c.1371C>T (p.Asp457=)
NM_000268.4(NF2):c.1373T>G (p.Leu458Arg) rs1457638896
NM_000268.4(NF2):c.1376A>C (p.Gln459Pro) rs2147092623
NM_000268.4(NF2):c.1379A>G (p.Glu460Gly)
NM_000268.4(NF2):c.1383A>C (p.Ala461=) rs2147092772
NM_000268.4(NF2):c.1383A>G (p.Ala461=) rs2147092772
NM_000268.4(NF2):c.1384C>T (p.Arg462Cys) rs771143279
NM_000268.4(NF2):c.1387G>T (p.Glu463Ter) rs74315503
NM_000268.4(NF2):c.1389G>A (p.Glu463=)
NM_000268.4(NF2):c.1395G>A (p.Glu465=) rs1556001388
NM_000268.4(NF2):c.1395_1396delinsAT (p.Arg466Ter) rs2066914171
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>G (p.Arg467Gly)
NM_000268.4(NF2):c.1405A>C (p.Lys469Gln)
NM_000268.4(NF2):c.1406A>C (p.Lys469Thr)
NM_000268.4(NF2):c.140T>C (p.Phe47Ser) rs2146852097
NM_000268.4(NF2):c.1413_1428del (p.Leu472fs) rs2066915159
NM_000268.4(NF2):c.1414C>T (p.Leu472Phe) rs2147093380
NM_000268.4(NF2):c.1416C>A (p.Leu472=)
NM_000268.4(NF2):c.1417C>A (p.Leu473Met) rs2147093444
NM_000268.4(NF2):c.1419G>A (p.Leu473=) rs2147093470
NM_000268.4(NF2):c.1422G>T (p.Glu474Asp)
NM_000268.4(NF2):c.1426G>A (p.Ala476Thr)
NM_000268.4(NF2):c.1428C>T (p.Ala476=) rs1017011958
NM_000268.4(NF2):c.1430C>T (p.Thr477Ile)
NM_000268.4(NF2):c.1431C>A (p.Thr477=) rs2147093689
NM_000268.4(NF2):c.1433A>G (p.Lys478Arg)
NM_000268.4(NF2):c.1434G>C (p.Lys478Asn) rs2147093727
NM_000268.4(NF2):c.1435C>A (p.Pro479Thr)
NM_000268.4(NF2):c.1437C>T (p.Pro479=) rs2147093816
NM_000268.4(NF2):c.1439C>A (p.Thr480Lys) rs145666157
NM_000268.4(NF2):c.1446+1308C>T
NM_000268.4(NF2):c.1446+1396C>G
NM_000268.4(NF2):c.1446+13G>A
NM_000268.4(NF2):c.1446+13del rs1195395510
NM_000268.4(NF2):c.1446+16A>G rs2147094287
NM_000268.4(NF2):c.1446+17C>T
NM_000268.4(NF2):c.1446+18C>T
NM_000268.4(NF2):c.1446+1G>A rs1601652425
NM_000268.4(NF2):c.1446+20G>C
NM_000268.4(NF2):c.1446+5G>T rs367829184
NM_000268.4(NF2):c.1446+6C>A rs878853924
NM_000268.4(NF2):c.1446+6C>G rs878853924
NM_000268.4(NF2):c.1446+7C>A
NM_000268.4(NF2):c.1446+7C>T rs2147094154
NM_000268.4(NF2):c.1447-11C>G
NM_000268.4(NF2):c.1447-147_1447-8del
NM_000268.4(NF2):c.1447-15A>T rs2067021692
NM_000268.4(NF2):c.1447-1G>A rs2147107697
NM_000268.4(NF2):c.1447-20C>A
NM_000268.4(NF2):c.1447-20C>G
NM_000268.4(NF2):c.1447-20C>T rs565129019
NM_000268.4(NF2):c.1447-2del rs1556002457
NM_000268.4(NF2):c.1447-4A>G
NM_000268.4(NF2):c.1447-7T>C rs1182185192
NM_000268.4(NF2):c.1447-9C>G rs1485358709
NM_000268.4(NF2):c.1447-9C>T
NM_000268.4(NF2):c.1447C>G (p.Pro483Ala) rs2067022285
NM_000268.4(NF2):c.1459A>C (p.Ile487Leu) rs147506929
NM_000268.4(NF2):c.1459A>T (p.Ile487Phe)
NM_000268.4(NF2):c.145T>A (p.Leu49Met)
NM_000268.4(NF2):c.145T>C (p.Leu49=)
NM_000268.4(NF2):c.1460T>C (p.Ile487Thr) rs1601658904
NM_000268.4(NF2):c.1466C>T (p.Ala489Val) rs1156963577
NM_000268.4(NF2):c.1468C>T (p.Pro490Ser) rs776076922
NM_000268.4(NF2):c.146T>C (p.Leu49Ser) rs2146852259
NM_000268.4(NF2):c.1470G>A (p.Pro490=) rs373442542
NM_000268.4(NF2):c.1471T>C (p.Leu491=)
NM_000268.4(NF2):c.1475C>G (p.Pro492Arg)
NM_000268.4(NF2):c.147G>C (p.Leu49Phe)
NM_000268.4(NF2):c.1480G>C (p.Asp494His) rs2067024378
NM_000268.4(NF2):c.1482C>T (p.Asp494=)
NM_000268.4(NF2):c.1483A>G (p.Ile495Val) rs1194776777
NM_000268.4(NF2):c.1484T>G (p.Ile495Arg) rs1556002511
NM_000268.4(NF2):c.148G>A (p.Val50Met)
NM_000268.4(NF2):c.1490del (p.Ser497fs) rs2147108214
NM_000268.4(NF2):c.1491C>T (p.Ser497=) rs1556002514
NM_000268.4(NF2):c.1493_1494delinsCT (p.Phe498Ser) rs2147108238
NM_000268.4(NF2):c.1494C>T (p.Phe498=) rs1060504990
NM_000268.4(NF2):c.1496A>C (p.Asn499Thr) rs2147108268
NM_000268.4(NF2):c.1496A>G (p.Asn499Ser) rs2147108268
NM_000268.4(NF2):c.1498C>T (p.Leu500Phe)
NM_000268.4(NF2):c.1499T>C (p.Leu500Pro) rs2147108303
NM_000268.4(NF2):c.14_15insG (p.Ile5fs)
NM_000268.4(NF2):c.1501A>G (p.Ile501Val) rs1315864916
NM_000268.4(NF2):c.1504G>A (p.Gly502Ser)
NM_000268.4(NF2):c.1504G>T (p.Gly502Cys)
NM_000268.4(NF2):c.1506T>A (p.Gly502=)
NM_000268.4(NF2):c.1507G>A (p.Asp503Asn)
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.1514del (p.Leu505fs)
NM_000268.4(NF2):c.1517C>G (p.Ser506Cys) rs970051210
NM_000268.4(NF2):c.1521C>T (p.Phe507=) rs994823423
NM_000268.4(NF2):c.1521del (p.Phe507fs)
NM_000268.4(NF2):c.1522G>C (p.Asp508His)
NM_000268.4(NF2):c.1522G>T (p.Asp508Tyr) rs749326764
NM_000268.4(NF2):c.1524C>T (p.Asp508=) rs2147108553
NM_000268.4(NF2):c.1527C>T (p.Phe509=) rs2067026804
NM_000268.4(NF2):c.1529A>T (p.Lys510Ile)
NM_000268.4(NF2):c.152G>T (p.Cys51Phe)
NM_000268.4(NF2):c.1533T>C (p.Asp511=) rs1601659271
NM_000268.4(NF2):c.1535C>T (p.Thr512Ile)
NM_000268.4(NF2):c.1540A>C (p.Met514Leu) rs201527155
NM_000268.4(NF2):c.1544A>G (p.Lys515Arg) rs2067027566
NM_000268.4(NF2):c.1546C>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>A (p.Leu517His) rs1556002568
NM_000268.4(NF2):c.1550T>C (p.Leu517Pro) rs1556002568
NM_000268.4(NF2):c.1551T>G (p.Leu517=) rs2147108821
NM_000268.4(NF2):c.1555A>G (p.Met519Val)
NM_000268.4(NF2):c.1556T>C (p.Met519Thr) rs2147108867
NM_000268.4(NF2):c.1557G>A (p.Met519Ile) rs1601659358
NM_000268.4(NF2):c.1558G>A (p.Glu520Lys)
NM_000268.4(NF2):c.155G>A (p.Arg52Gln)
NM_000268.4(NF2):c.1560G>A (p.Glu520=) rs2147108895
NM_000268.4(NF2):c.1562T>C (p.Ile521Thr)
NM_000268.4(NF2):c.1563A>G (p.Ile521Met) rs2147108932
NM_000268.4(NF2):c.1564_1567del (p.Glu522fs)
NM_000268.4(NF2):c.1565A>T (p.Glu522Val)
NM_000268.4(NF2):c.1566G>A (p.Glu522=) rs1178488286
NM_000268.4(NF2):c.1566G>T (p.Glu522Asp)
NM_000268.4(NF2):c.1567A>G (p.Lys523Glu) rs2067028599
NM_000268.4(NF2):c.1570G>C (p.Glu524Gln) rs2147108990
NM_000268.4(NF2):c.1574+14del
NM_000268.4(NF2):c.1574+16T>A
NM_000268.4(NF2):c.1574+1G>A
NM_000268.4(NF2):c.1574+2T>A
NM_000268.4(NF2):c.1574+7A>G rs1601659412
NM_000268.4(NF2):c.1574+8G>A
NM_000268.4(NF2):c.1574+9C>A rs748497894
NM_000268.4(NF2):c.1575-10T>C
NM_000268.4(NF2):c.1575-15C>A
NM_000268.4(NF2):c.1575-15C>T rs1199533707
NM_000268.4(NF2):c.1575-17T>A rs2067130584
NM_000268.4(NF2):c.1575-17T>C
NM_000268.4(NF2):c.1575-19G>T rs2067130502
NM_000268.4(NF2):c.1575-20T>C
NM_000268.4(NF2):c.1575-2A>G rs2067131272
NM_000268.4(NF2):c.1575-5G>T
NM_000268.4(NF2):c.1575-6C>A rs1350177470
NM_000268.4(NF2):c.1575-6C>G rs1350177470
NM_000268.4(NF2):c.1575-7C>T rs2147122210
NM_000268.4(NF2):c.1575A>C (p.Lys525Asn) rs1060503673
NM_000268.4(NF2):c.1575A>G (p.Lys525=) rs1060503673
NM_000268.4(NF2):c.1576G>A (p.Val526Met)
NM_000268.4(NF2):c.1579G>T (p.Glu527Ter) rs74315505
NM_000268.4(NF2):c.157A>G (p.Thr53Ala) rs1601578990
NM_000268.4(NF2):c.1580A>T (p.Glu527Val)
NM_000268.4(NF2):c.1585A>G (p.Met529Val) rs1456599218
NM_000268.4(NF2):c.1595G>A (p.Ser532Asn) rs2147122432
NM_000268.4(NF2):c.1599G>A (p.Lys533=) rs2147122478
NM_000268.4(NF2):c.159T>C (p.Thr53=)
NM_000268.4(NF2):c.15C>G (p.Ile5Met) rs998779035
NM_000268.4(NF2):c.1600C>T (p.His534Tyr) rs769370159
NM_000268.4(NF2):c.1601A>G (p.His534Arg) rs2147122511
NM_000268.4(NF2):c.1604T>C (p.Leu535Pro) rs74315493
NM_000268.4(NF2):c.1605G>T (p.Leu535=)
NM_000268.4(NF2):c.1606C>T (p.Gln536Ter) rs2147122581
NM_000268.4(NF2):c.1608G>C (p.Gln536His)
NM_000268.4(NF2):c.1609G>A (p.Glu537Lys)
NM_000268.4(NF2):c.1609G>C (p.Glu537Gln)
NM_000268.4(NF2):c.1609_1614del (p.Glu537_Gln538del) rs2147122568
NM_000268.4(NF2):c.1610A>C (p.Glu537Ala) rs2147122594
NM_000268.4(NF2):c.1611G>T (p.Glu537Asp) rs946609084
NM_000268.4(NF2):c.1612C>T (p.Gln538Ter) rs2147122623
NM_000268.4(NF2):c.1613A>C (p.Gln538Pro) rs74315494
NM_000268.4(NF2):c.1613dup (p.Leu539fs) rs2147122655
NM_000268.4(NF2):c.1615C>T (p.Leu539Phe)
NM_000268.4(NF2):c.1616T>C (p.Leu539Pro) rs2147122672
NM_000268.4(NF2):c.1617C>T (p.Leu539=) rs1556003665
NM_000268.4(NF2):c.1618A>G (p.Asn540Asp)
NM_000268.4(NF2):c.1621G>T (p.Glu541Ter) rs2147122741
NM_000268.4(NF2):c.1623A>C (p.Glu541Asp)
NM_000268.4(NF2):c.1625T>A (p.Leu542His)
NM_000268.4(NF2):c.1627A>T (p.Lys543Ter) rs878853925
NM_000268.4(NF2):c.1627_1628del (p.Lys543fs) rs2147122795
NM_000268.4(NF2):c.1630A>C (p.Thr544Pro)
NM_000268.4(NF2):c.1630A>G (p.Thr544Ala) rs762953921
NM_000268.4(NF2):c.1632A>G (p.Thr544=)
NM_000268.4(NF2):c.1633G>A (p.Glu545Lys)
NM_000268.4(NF2):c.1635A>T (p.Glu545Asp) rs1556003698
NM_000268.4(NF2):c.1643C>T (p.Ala548Val)
NM_000268.4(NF2):c.1644C>T (p.Ala548=) rs2147122941
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.1655A>G (p.Lys552Arg)
NM_000268.4(NF2):c.1658A>C (p.Glu553Ala)
NM_000268.4(NF2):c.1658A>G (p.Glu553Gly) rs2147123000
NM_000268.4(NF2):c.165G>A (p.Gly55=) rs2146852827
NM_000268.4(NF2):c.1660A>C (p.Arg554=)
NM_000268.4(NF2):c.1660A>G (p.Arg554Gly) rs1601666203
NM_000268.4(NF2):c.1660A>T (p.Arg554Trp) rs1601666203
NM_000268.4(NF2):c.1660_1661del (p.Arg554fs) rs1601666191
NM_000268.4(NF2):c.1661G>A (p.Arg554Lys) rs2067134618
NM_000268.4(NF2):c.1663G>A (p.Glu555Lys)
NM_000268.4(NF2):c.1665G>A (p.Glu555=)
NM_000268.4(NF2):c.1669G>A (p.Ala557Thr)
NM_000268.4(NF2):c.1670C>A (p.Ala557Asp)
NM_000268.4(NF2):c.1672C>G (p.Leu558Val)
NM_000268.4(NF2):c.1676A>T (p.Asp559Val)
NM_000268.4(NF2):c.1676del (p.Asp559fs)
NM_000268.4(NF2):c.1678A>T (p.Ile560Phe) rs557347747
NM_000268.4(NF2):c.167T>G (p.Leu56Arg) rs2146852896
NM_000268.4(NF2):c.1683G>A (p.Leu561=) rs758955756
NM_000268.4(NF2):c.1684C>A (p.His562Asn)
NM_000268.4(NF2):c.1685A>G (p.His562Arg) rs878853926
NM_000268.4(NF2):c.1685A>T (p.His562Leu) rs878853926
NM_000268.4(NF2):c.1687A>G (p.Asn563Asp)
NM_000268.4(NF2):c.1689T>C (p.Asn563=)
NM_000268.4(NF2):c.1690G>A (p.Glu564Lys)
NM_000268.4(NF2):c.1693A>T (p.Asn565Tyr) rs1601666359
NM_000268.4(NF2):c.169C>T (p.Arg57Ter) rs121434259
NM_000268.4(NF2):c.16_17delinsTT (p.Ala6Phe)
NM_000268.4(NF2):c.1702A>G (p.Arg568Gly) rs1318481716
NM_000268.4(NF2):c.1705G>A (p.Gly569Ser)
NM_000268.4(NF2):c.1706G>T (p.Gly569Val) rs781488145
NM_000268.4(NF2):c.1707T>C (p.Gly569=)
NM_000268.4(NF2):c.1708G>A (p.Gly570Ser) rs2147123415
NM_000268.4(NF2):c.1711A>G (p.Ser571Gly)
NM_000268.4(NF2):c.1712G>A (p.Ser571Asn) rs2067137196
NM_000268.4(NF2):c.1713C>T (p.Ser571=)
NM_000268.4(NF2):c.1714A>C (p.Ser572Arg) rs1379683835
NM_000268.4(NF2):c.1714A>G (p.Ser572Gly) rs1379683835
NM_000268.4(NF2):c.1718A>G (p.Lys573Arg)
NM_000268.4(NF2):c.1720C>A (p.His574Asn)
NM_000268.4(NF2):c.1720C>T (p.His574Tyr) rs867707782
NM_000268.4(NF2):c.1721A>C (p.His574Pro) rs1601666509
NM_000268.4(NF2):c.1721A>G (p.His574Arg) rs1601666509
NM_000268.4(NF2):c.1722C>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.1732A>G (p.Lys578Glu) rs2147123687
NM_000268.4(NF2):c.1733A>G (p.Lys578Arg) rs2067138210
NM_000268.4(NF2):c.1735A>C (p.Lys579Gln) rs2067138432
NM_000268.4(NF2):c.1735A>G (p.Lys579Glu)
NM_000268.4(NF2):c.1737+10G>A rs2147123830
NM_000268.4(NF2):c.1737+10G>T
NM_000268.4(NF2):c.1737+11T>C
NM_000268.4(NF2):c.1737+13del
NM_000268.4(NF2):c.1737+1420C>T rs2147129677
NM_000268.4(NF2):c.1737+14C>T
NM_000268.4(NF2):c.1737+17_1737+20del
NM_000268.4(NF2):c.1737+1G>C
NM_000268.4(NF2):c.1737+1G>T rs1556003799
NM_000268.4(NF2):c.1737+2T>A rs1556003801
NM_000268.4(NF2):c.1737+2T>C rs1556003801
NM_000268.4(NF2):c.1737+5C>T rs1217457776
NM_000268.4(NF2):c.1737+8G>A
NM_000268.4(NF2):c.1737+9G>A rs1601666607
NM_000268.4(NF2):c.1737G>A (p.Lys579=) rs1569312133
NM_000268.4(NF2):c.1737_1737+1dup
NM_000268.4(NF2):c.1738-10T>C rs2147171593
NM_000268.4(NF2):c.1738-10T>G rs2147171593
NM_000268.4(NF2):c.1738-13T>C
NM_000268.4(NF2):c.1738-14C>T
NM_000268.4(NF2):c.1738-16C>A
NM_000268.4(NF2):c.1738-16_1738-14del rs2147171545
NM_000268.4(NF2):c.1738-17_1738-15del rs770417034
NM_000268.4(NF2):c.1738-20T>G
NM_000268.4(NF2):c.1738-3C>A rs2147171627
NM_000268.4(NF2):c.1738-3C>G
NM_000268.4(NF2):c.1738-4_1741delinsG rs1556008383
NM_000268.4(NF2):c.1738-5_1738-2dup
NM_000268.4(NF2):c.1739_1747del (p.Leu580_Leu582del) rs1060503674
NM_000268.4(NF2):c.1743C>T (p.Thr581=) rs768807694
NM_000268.4(NF2):c.1745T>C (p.Leu582Ser) rs2067498896
NM_000268.4(NF2):c.1746G>A (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.1756_1770del (p.Lys586_Ala590del)
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.1762dup (p.Arg588fs)
NM_000268.4(NF2):c.1764A>C (p.Arg588=) rs1601688952
NM_000268.4(NF2):c.1764del (p.Val589fs)
NM_000268.4(NF2):c.1766T>A (p.Val589Glu)
NM_000268.4(NF2):c.1768_1769delinsAT (p.Ala590Ile) rs2147171876
NM_000268.4(NF2):c.1769C>T (p.Ala590Val) rs1246154574
NM_000268.4(NF2):c.1770CTT[1] (p.Phe592del) rs2067500115
NM_000268.4(NF2):c.1772T>A (p.Phe591Tyr)
NM_000268.4(NF2):c.1773C>A (p.Phe591Leu)
NM_000268.4(NF2):c.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.1783C>T (p.Leu595Phe) rs1601689027
NM_000268.4(NF2):c.1784T>C (p.Leu595Pro) rs2147172014
NM_000268.4(NF2):c.1785C>G (p.Leu595=) rs2147172029
NM_000268.4(NF2):c.1786T>C (p.Ter596Gln) rs1569319775
NM_000268.4(NF2):c.178T>C (p.Trp60Arg)
NM_000268.4(NF2):c.179G>A (p.Trp60Ter)
NM_000268.4(NF2):c.179_185del (p.Trp60fs) rs1601579095
NM_000268.4(NF2):c.17C>A (p.Ala6Asp) rs2064713500
NM_000268.4(NF2):c.180G>A (p.Trp60Ter) rs780872661
NM_000268.4(NF2):c.183C>T (p.Phe61=) rs2146853392
NM_000268.4(NF2):c.185T>C (p.Phe62Ser) rs121434261
NM_000268.4(NF2):c.185T>G (p.Phe62Cys)
NM_000268.4(NF2):c.186T>C (p.Phe62=) rs373178836
NM_000268.4(NF2):c.190C>A (p.Leu64Met)
NM_000268.4(NF2):c.190C>T (p.Leu64=) rs779218238
NM_000268.4(NF2):c.191T>C (p.Leu64Pro) rs2065661430
NM_000268.4(NF2):c.192G>A (p.Leu64=)
NM_000268.4(NF2):c.193C>T (p.Gln65Ter) rs2065661533
NM_000268.4(NF2):c.1A>G (p.Met1Val) rs1319282473
NM_000268.4(NF2):c.200C>A (p.Thr67Lys)
NM_000268.4(NF2):c.200C>T (p.Thr67Ile) rs2146853974
NM_000268.4(NF2):c.201A>G (p.Thr67=)
NM_000268.4(NF2):c.202A>G (p.Ile68Val)
NM_000268.4(NF2):c.208G>C (p.Asp70His) rs559558673
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>C (p.Val72=) rs1601579272
NM_000268.4(NF2):c.217G>A (p.Ala73Thr)
NM_000268.4(NF2):c.219C>T (p.Ala73=) rs2146854444
NM_000268.4(NF2):c.222G>T (p.Trp74Cys) rs2065663095
NM_000268.4(NF2):c.223C>A (p.Leu75Ile) rs2146854583
NM_000268.4(NF2):c.223_240+8del rs1601579295
NM_000268.4(NF2):c.229del (p.Met77fs) rs2146854677
NM_000268.4(NF2):c.22C>T (p.Arg8Cys) rs868416935
NM_000268.4(NF2):c.22_23delinsAA (p.Arg8Asn)
NM_000268.4(NF2):c.231G>A (p.Met77Ile)
NM_000268.4(NF2):c.231G>T (p.Met77Ile)
NM_000268.4(NF2):c.23G>C (p.Arg8Pro) rs775564806
NM_000268.4(NF2):c.23G>T (p.Arg8Leu) rs775564806
NM_000268.4(NF2):c.240+13C>T
NM_000268.4(NF2):c.240+16G>C
NM_000268.4(NF2):c.240+17A>G rs2146855326
NM_000268.4(NF2):c.240+18T>C
NM_000268.4(NF2):c.240+18_240+20del
NM_000268.4(NF2):c.240+19G>T rs2146855386
NM_000268.4(NF2):c.240+1G>A rs587776562
NM_000268.4(NF2):c.240+1G>C rs587776562
NM_000268.4(NF2):c.240+1G>T rs587776562
NM_000268.4(NF2):c.240+20A>T
NM_000268.4(NF2):c.240+2T>C rs2146854993
NM_000268.4(NF2):c.240+5_240+6del
NM_000268.4(NF2):c.240+6G>A rs771417406
NM_000268.4(NF2):c.240+7C>G rs763999804
NM_000268.4(NF2):c.240+7C>T
NM_000268.4(NF2):c.240+8T>C rs2146855110
NM_000268.4(NF2):c.240G>A (p.Lys80=) rs1555986950
NM_000268.4(NF2):c.241-10A>G rs2146869287
NM_000268.4(NF2):c.241-11C>A
NM_000268.4(NF2):c.241-14C>T
NM_000268.4(NF2):c.241-16C>T
NM_000268.4(NF2):c.241-17G>A
NM_000268.4(NF2):c.241-1G>A
NM_000268.4(NF2):c.241-20T>A rs1373485603
NM_000268.4(NF2):c.241-2A>G rs2146869427
NM_000268.4(NF2):c.241-4G>C rs2146869357
NM_000268.4(NF2):c.241-4G>T rs2146869357
NM_000268.4(NF2):c.241G>A (p.Val81Ile)
NM_000268.4(NF2):c.241_249delinsAG (p.Val81fs)
NM_000268.4(NF2):c.243A>C (p.Val81=) rs2146869518
NM_000268.4(NF2):c.244C>T (p.Leu82=)
NM_000268.4(NF2):c.245T>C (p.Leu82Pro) rs2065727847
NM_000268.4(NF2):c.250C>T (p.His84Tyr)
NM_000268.4(NF2):c.251dup (p.His84fs) rs2065728187
NM_000268.4(NF2):c.252T>A (p.His84Gln)
NM_000268.4(NF2):c.252T>C (p.His84=) rs374512699
NM_000268.4(NF2):c.253G>C (p.Asp85His) rs2065728465
NM_000268.4(NF2):c.25A>G (p.Met9Val) rs1249717688
NM_000268.4(NF2):c.263A>G (p.Lys88Arg) rs547255779
NM_000268.4(NF2):c.264G>A (p.Lys88=) rs2146870206
NM_000268.4(NF2):c.26T>C (p.Met9Thr)
NM_000268.4(NF2):c.270del (p.Glu90fs)
NM_000268.4(NF2):c.271C>A (p.Pro91Thr) rs1555987645
NM_000268.4(NF2):c.272C>A (p.Pro91Gln) rs1569281659
NM_000268.4(NF2):c.272C>G (p.Pro91Arg) rs1569281659
NM_000268.4(NF2):c.273del (p.Val92fs) rs1555987647
NM_000268.4(NF2):c.275T>C (p.Val92Ala)
NM_000268.4(NF2):c.276C>A (p.Val92=) rs2065729344
NM_000268.4(NF2):c.276C>T (p.Val92=) rs2065729344
NM_000268.4(NF2):c.285C>T (p.His95=)
NM_000268.4(NF2):c.285CTT[1] (p.Phe96del) rs121434260
NM_000268.4(NF2):c.287T>C (p.Phe96Ser) rs2146870955
NM_000268.4(NF2):c.288C>T (p.Phe96=) rs1003303140
NM_000268.4(NF2):c.289T>C (p.Leu97=) rs2146871004
NM_000268.4(NF2):c.290del (p.Leu97fs)
NM_000268.4(NF2):c.291G>A (p.Leu97=)
NM_000268.4(NF2):c.291G>T (p.Leu97Phe) rs2146871037
NM_000268.4(NF2):c.293C>A (p.Ala98Asp) rs1060503668
NM_000268.4(NF2):c.294C>G (p.Ala98=) rs1555987671
NM_000268.4(NF2):c.294C>T (p.Ala98=) rs1555987671
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.302_303del (p.Tyr101fs) rs2146871313
NM_000268.4(NF2):c.305C>G (p.Pro102Arg) rs1601583679
NM_000268.4(NF2):c.310A>G (p.Asn104Asp)
NM_000268.4(NF2):c.311A>C (p.Asn104Thr) rs2065731005
NM_000268.4(NF2):c.315T>G (p.Ala105=) rs751650863
NM_000268.4(NF2):c.319_325delinsTAGGATA (p.Glu107_Leu109delinsTer) rs2065731800
NM_000268.4(NF2):c.320_321del (p.Glu107fs) rs2146871865
NM_000268.4(NF2):c.322del (p.Glu108fs) rs2065731921
NM_000268.4(NF2):c.324G>A (p.Glu108=)
NM_000268.4(NF2):c.326T>C (p.Leu109Pro) rs1601583740
NM_000268.4(NF2):c.328G>A (p.Val110Ile)
NM_000268.4(NF2):c.328G>C (p.Val110Leu) rs1601583759
NM_000268.4(NF2):c.32T>G (p.Phe11Cys) rs2064714417
NM_000268.4(NF2):c.332A>C (p.Gln111Pro) rs2065732351
NM_000268.4(NF2):c.336G>A (p.Glu112=) rs2146872481
NM_000268.4(NF2):c.336G>T (p.Glu112Asp)
NM_000268.4(NF2):c.337A>C (p.Ile113Leu) rs1328289194
NM_000268.4(NF2):c.337A>T (p.Ile113Phe)
NM_000268.4(NF2):c.339C>T (p.Ile113=) rs2065732712
NM_000268.4(NF2):c.342A>G (p.Thr114=) rs2146872655
NM_000268.4(NF2):c.342ACA[1] (p.Gln115del) rs1601583772
NM_000268.4(NF2):c.343C>A (p.Gln115Lys) rs1350618734
NM_000268.4(NF2):c.343C>T (p.Gln115Ter)
NM_000268.4(NF2):c.345A>T (p.Gln115His) rs746369012
NM_000268.4(NF2):c.346C>T (p.His116Tyr)
NM_000268.4(NF2):c.349T>G (p.Leu117Val) rs1569281810
NM_000268.4(NF2):c.351A>G (p.Leu117=)
NM_000268.4(NF2):c.352T>G (p.Phe118Val) rs2065733287
NM_000268.4(NF2):c.354CTT[1] (p.Phe119del) rs1555987732
NM_000268.4(NF2):c.357C>T (p.Phe119=) rs1370689871
NM_000268.4(NF2):c.359T>C (p.Leu120Ser)
NM_000268.4(NF2):c.361C>G (p.Gln121Glu) rs1006294051
NM_000268.4(NF2):c.361C>T (p.Gln121Ter)
NM_000268.4(NF2):c.362A>G (p.Gln121Arg) rs2146873198
NM_000268.4(NF2):c.363+11C>A rs780429668
NM_000268.4(NF2):c.363+11C>T
NM_000268.4(NF2):c.363+14G>A
NM_000268.4(NF2):c.363+15G>T rs2146873498
NM_000268.4(NF2):c.363+16C>T
NM_000268.4(NF2):c.363+19C>T rs202225081
NM_000268.4(NF2):c.363+1G>T rs1601583839
NM_000268.4(NF2):c.363+24dup
NM_000268.4(NF2):c.363+2T>C rs2146873271
NM_000268.4(NF2):c.363+3A>C rs1060503669
NM_000268.4(NF2):c.363+3A>T rs1060503669
NM_000268.4(NF2):c.363+7C>T rs2146873349
NM_000268.4(NF2):c.363+9G>A rs1601583861
NM_000268.4(NF2):c.363+9G>T rs1601583861
NM_000268.4(NF2):c.364-10C>A rs2065829328
NM_000268.4(NF2):c.364-10C>G rs2065829328
NM_000268.4(NF2):c.364-1121C>T rs1181058121
NM_000268.4(NF2):c.364-3C>T rs2065829595
NM_000268.4(NF2):c.364-8C>T rs1601589373
NM_000268.4(NF2):c.364-8_364-6del rs2146892550
NM_000268.4(NF2):c.365T>A (p.Val122Glu)
NM_000268.4(NF2):c.366A>G (p.Val122=) rs750431087
NM_000268.4(NF2):c.366A>T (p.Val122=) rs750431087
NM_000268.4(NF2):c.367AAG[1] (p.Lys124del)
NM_000268.4(NF2):c.368A>G (p.Lys123Arg) rs139779327
NM_000268.4(NF2):c.36C>T (p.Ser12=) rs371800843
NM_000268.4(NF2):c.370A>C (p.Lys124Gln) rs1601589425
NM_000268.4(NF2):c.372G>T (p.Lys124Asn) rs1270877164
NM_000268.4(NF2):c.375G>C (p.Gln125His) rs2065829948
NM_000268.4(NF2):c.375G>T (p.Gln125His) rs2065829948
NM_000268.4(NF2):c.375_376del (p.Gln125fs) rs2146892921
NM_000268.4(NF2):c.375_377del (p.Gln125_Ile126delinsHis) rs2146892973
NM_000268.4(NF2):c.376A>G (p.Ile126Val) rs780483061
NM_000268.4(NF2):c.383A>G (p.Asp128Gly)
NM_000268.4(NF2):c.389A>G (p.Lys130Arg) rs2146893244
NM_000268.4(NF2):c.390G>T (p.Lys130Asn)
NM_000268.4(NF2):c.391A>C (p.Ile131Leu) rs878853927
NM_000268.4(NF2):c.392T>C (p.Ile131Thr)
NM_000268.4(NF2):c.395A>G (p.Tyr132Cys)
NM_000268.4(NF2):c.396C>T (p.Tyr132=) rs749708226
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.402T>C (p.Pro134=) rs2065830830
NM_000268.4(NF2):c.402T>G (p.Pro134=) rs2065830830
NM_000268.4(NF2):c.403C>T (p.Pro135Ser)
NM_000268.4(NF2):c.414T>C (p.Ser138=) rs1601589507
NM_000268.4(NF2):c.417G>A (p.Val139=) rs2146894145
NM_000268.4(NF2):c.41_42del (p.Leu14fs) rs1418675250
NM_000268.4(NF2):c.420C>A (p.Leu140=) rs2146894238
NM_000268.4(NF2):c.421C>T (p.Leu141=) rs2146894283
NM_000268.4(NF2):c.42C>G (p.Leu14=)
NM_000268.4(NF2):c.431dup (p.Tyr144Ter) rs2065831369
NM_000268.4(NF2):c.432C>G (p.Tyr144Ter) rs1060503667
NM_000268.4(NF2):c.432del (p.Ser143_Tyr144insTer) rs2065831600
NM_000268.4(NF2):c.433_434del (p.Ala145fs)
NM_000268.4(NF2):c.438C>G (p.Val146=) rs2146894870
NM_000268.4(NF2):c.439C>T (p.Gln147Ter) rs2146894926
NM_000268.4(NF2):c.43A>C (p.Lys15Gln)
NM_000268.4(NF2):c.43A>G (p.Lys15Glu)
NM_000268.4(NF2):c.43A>T (p.Lys15Ter) rs1555978356
NM_000268.4(NF2):c.440A>C (p.Gln147Pro) rs2065831928
NM_000268.4(NF2):c.440A>T (p.Gln147Leu)
NM_000268.4(NF2):c.447+10A>G rs1400540192
NM_000268.4(NF2):c.447+15_447+17del rs1555988797
NM_000268.4(NF2):c.447+1del rs2065832124
NM_000268.4(NF2):c.447+20A>G
NM_000268.4(NF2):c.447+20A>T
NM_000268.4(NF2):c.447+2T>C rs2146895235
NM_000268.4(NF2):c.447+3A>G
NM_000268.4(NF2):c.447+4G>A
NM_000268.4(NF2):c.447+6C>T rs777369699
NM_000268.4(NF2):c.447+9A>G
NM_000268.4(NF2):c.447G>T (p.Lys149Asn)
NM_000268.4(NF2):c.448-18_448-17del rs2146966012
NM_000268.4(NF2):c.448-19C>T rs1236199823
NM_000268.4(NF2):c.448-20T>C
NM_000268.4(NF2):c.448-2A>G rs2146966211
NM_000268.4(NF2):c.448-3del
NM_000268.4(NF2):c.448-4C>G rs760733256
NM_000268.4(NF2):c.448-5T>C rs878853928
NM_000268.4(NF2):c.448-8C>T rs1252727024
NM_000268.4(NF2):c.452del (p.Gly151fs) rs2146966294
NM_000268.4(NF2):c.453T>G (p.Gly151=) rs2146966325
NM_000268.4(NF2):c.457dup (p.Tyr153fs) rs2146966417
NM_000268.4(NF2):c.458A>G (p.Tyr153Cys) rs2146966434
NM_000268.4(NF2):c.460G>A (p.Asp154Asn)
NM_000268.4(NF2):c.462C>A (p.Asp154Glu)
NM_000268.4(NF2):c.462C>T (p.Asp154=)
NM_000268.4(NF2):c.463C>G (p.Pro155Ala) rs2066246942
NM_000268.4(NF2):c.464C>T (p.Pro155Leu) rs2146966580
NM_000268.4(NF2):c.465del (p.Ser156fs) rs1555992948
NM_000268.4(NF2):c.467G>A (p.Ser156Asn) rs2146966627
NM_000268.4(NF2):c.468T>C (p.Ser156=)
NM_000268.4(NF2):c.469G>C (p.Val157Leu)
NM_000268.4(NF2):c.470_479dup (p.Gly161fs) rs2146966685
NM_000268.4(NF2):c.472C>T (p.His158Tyr)
NM_000268.4(NF2):c.473A>G (p.His158Arg) rs2066247273
NM_000268.4(NF2):c.475_476inv (p.Lys159Leu)
NM_000268.4(NF2):c.476A>G (p.Lys159Arg)
NM_000268.4(NF2):c.476del (p.Lys159fs)
NM_000268.4(NF2):c.477G>C (p.Lys159Asn)
NM_000268.4(NF2):c.479G>A (p.Arg160Gln) rs867595517
NM_000268.4(NF2):c.479G>T (p.Arg160Leu) rs867595517
NM_000268.4(NF2):c.481G>T (p.Gly161Ter) rs1303879665
NM_000268.4(NF2):c.483del (p.Leu163fs)
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.494A>C (p.Gln165Pro) rs2146967118
NM_000268.4(NF2):c.495A>G (p.Gln165=) rs1601611991
NM_000268.4(NF2):c.496_497delinsAC (p.Glu166Thr) rs2146967188
NM_000268.4(NF2):c.497A>T (p.Glu166Val) rs779353677
NM_000268.4(NF2):c.498G>A (p.Glu166=)
NM_000268.4(NF2):c.499G>C (p.Glu167Gln) rs2066248439
NM_000268.4(NF2):c.499G>T (p.Glu167Ter)
NM_000268.4(NF2):c.49A>C (p.Lys17Gln) rs1006592023
NM_000268.4(NF2):c.49A>G (p.Lys17Glu)
NM_000268.4(NF2):c.4G>T (p.Ala2Ser) rs1601515682
NM_000268.4(NF2):c.501A>G (p.Glu167=) rs1480981635
NM_000268.4(NF2):c.503T>A (p.Leu168Ter)
NM_000268.4(NF2):c.504G>A (p.Leu168=) rs182990439
NM_000268.4(NF2):c.504G>C (p.Leu168Phe) rs182990439
NM_000268.4(NF2):c.505C>T (p.Leu169Phe)
NM_000268.4(NF2):c.506T>C (p.Leu169Pro) rs2066248635
NM_000268.4(NF2):c.509C>T (p.Pro170Leu)
NM_000268.4(NF2):c.50A>G (p.Lys17Arg) rs2064714998
NM_000268.4(NF2):c.511A>G (p.Lys171Glu)
NM_000268.4(NF2):c.515G>T (p.Arg172Met)
NM_000268.4(NF2):c.516+10T>A
NM_000268.4(NF2):c.516+10T>G rs758073951
NM_000268.4(NF2):c.516+12A>T
NM_000268.4(NF2):c.516+14T>C
NM_000268.4(NF2):c.516+1G>A rs1601612044
NM_000268.4(NF2):c.516+20T>C
NM_000268.4(NF2):c.516+2T>G rs1569293488
NM_000268.4(NF2):c.516+7G>T rs1670257214
NM_000268.4(NF2):c.516+9T>C rs2146967586
NM_000268.4(NF2):c.516G>A (p.Arg172=) rs1437469963
NM_000268.4(NF2):c.516G>C (p.Arg172Ser)
NM_000268.4(NF2):c.517-10T>C rs2066277799
NM_000268.4(NF2):c.517-11T>C
NM_000268.4(NF2):c.517-12A>G
NM_000268.4(NF2):c.517-15T>A
NM_000268.4(NF2):c.517-16C>T
NM_000268.4(NF2):c.517-1G>A rs1064796632
NM_000268.4(NF2):c.517-2A>G rs1060503670
NM_000268.4(NF2):c.517-4G>A rs1165155285
NM_000268.4(NF2):c.517-5G>A rs2146971836
NM_000268.4(NF2):c.517-92_568del rs1601613230
NM_000268.4(NF2):c.517G>A (p.Val173Ile) rs2146971884
NM_000268.4(NF2):c.522A>G (p.Ile174Met) rs2146971946
NM_000268.4(NF2):c.524A>G (p.Asn175Ser) rs2066278699
NM_000268.4(NF2):c.526C>T (p.Leu176=)
NM_000268.4(NF2):c.531T>A (p.Tyr177Ter) rs780880330
NM_000268.4(NF2):c.534G>A (p.Gln178=)
NM_000268.4(NF2):c.537G>A (p.Met179Ile)
NM_000268.4(NF2):c.540T>C (p.Thr180=)
NM_000268.4(NF2):c.544G>T (p.Glu182Ter) rs74315495
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.553G>T (p.Glu185Ter) rs2146972508
NM_000268.4(NF2):c.555G>A (p.Glu185=) rs1293410909
NM_000268.4(NF2):c.558G>C (p.Glu186Asp) rs1325902176
NM_000268.4(NF2):c.55C>T (p.Pro19Ser) rs1477242482
NM_000268.4(NF2):c.560G>A (p.Arg187Lys) rs1234052589
NM_000268.4(NF2):c.560_561del (p.Arg187fs) rs1555993301
NM_000268.4(NF2):c.563_564del (p.Ile188fs) rs1555993313
NM_000268.4(NF2):c.566C>G (p.Thr189Ser) rs2066280562
NM_000268.4(NF2):c.566C>T (p.Thr189Ile) rs2066280562
NM_000268.4(NF2):c.568G>C (p.Ala190Pro) rs2146972966
NM_000268.4(NF2):c.569C>G (p.Ala190Gly)
NM_000268.4(NF2):c.56C>G (p.Pro19Arg) rs1601515928
NM_000268.4(NF2):c.579A>G (p.Ala193=) rs1332985565
NM_000268.4(NF2):c.581A>G (p.Glu194Gly)
NM_000268.4(NF2):c.585C>T (p.His195=) rs2146973623
NM_000268.4(NF2):c.586C>G (p.Arg196Gly) rs1555993336
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.588A>C (p.Arg196=)
NM_000268.4(NF2):c.58A>C (p.Lys20Gln) rs2064715459
NM_000268.4(NF2):c.58A>T (p.Lys20Ter) rs2064715459
NM_000268.4(NF2):c.58_61delinsGT (p.Lys20fs) rs1555978369
NM_000268.4(NF2):c.590G>T (p.Gly197Val)
NM_000268.4(NF2):c.591C>A (p.Gly197=)
NM_000268.4(NF2):c.592C>T (p.Arg198Ter) rs1555993345
NM_000268.4(NF2):c.593G>A (p.Arg198Gln) rs2146973900
NM_000268.4(NF2):c.593_599+317del
NM_000268.4(NF2):c.594A>T (p.Arg198=)
NM_000268.4(NF2):c.597C>T (p.Ala199=)
NM_000268.4(NF2):c.599+10A>G
NM_000268.4(NF2):c.599+17G>T
NM_000268.4(NF2):c.599+1G>A rs1555993352
NM_000268.4(NF2):c.599+1G>T rs1555993352
NM_000268.4(NF2):c.599+20G>A
NM_000268.4(NF2):c.599+20_599+27dup
NM_000268.4(NF2):c.599+20_599+33dup rs2146974389
NM_000268.4(NF2):c.599+2T>G rs2146974102
NM_000268.4(NF2):c.599+5G>A rs1601613749
NM_000268.4(NF2):c.599+6G>T rs773469094
NM_000268.4(NF2):c.599+7C>A rs376965055
NM_000268.4(NF2):c.599+9del rs2146974204
NM_000268.4(NF2):c.599G>A (p.Arg200Lys)
NM_000268.4(NF2):c.600-20G>A rs2146988845
NM_000268.4(NF2):c.600-2A>G rs1601618501
NM_000268.4(NF2):c.601G>A (p.Asp201Asn)
NM_000268.4(NF2):c.601G>T (p.Asp201Tyr) rs2066370972
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.607G>A (p.Ala203Thr) rs2146989272
NM_000268.4(NF2):c.609T>C (p.Ala203=) rs2146989324
NM_000268.4(NF2):c.609T>G (p.Ala203=)
NM_000268.4(NF2):c.610G>C (p.Glu204Gln) rs1569295916
NM_000268.4(NF2):c.611A>C (p.Glu204Ala)
NM_000268.4(NF2):c.61A>G (p.Thr21Ala)
NM_000268.4(NF2):c.620A>G (p.Tyr207Cys)
NM_000268.4(NF2):c.624G>A (p.Leu208=)
NM_000268.4(NF2):c.627_628del (p.Lys209fs)
NM_000268.4(NF2):c.630A>G (p.Ile210Met)
NM_000268.4(NF2):c.634C>T (p.Gln212Ter) rs2146989887
NM_000268.4(NF2):c.63G>A (p.Thr21=)
NM_000268.4(NF2):c.641T>C (p.Leu214Pro) rs1601618585
NM_000268.4(NF2):c.643G>T (p.Glu215Ter)
NM_000268.4(NF2):c.643del (p.Glu215fs)
NM_000268.4(NF2):c.647T>C (p.Met216Thr) rs2066372172
NM_000268.4(NF2):c.648_649dup (p.Tyr217fs) rs2146990314
NM_000268.4(NF2):c.652G>T (p.Gly218Cys) rs776818377
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.660C>G (p.Asn220Lys) rs2146990712
NM_000268.4(NF2):c.660C>T (p.Asn220=)
NM_000268.4(NF2):c.664T>C (p.Phe222Leu)
NM_000268.4(NF2):c.668C>T (p.Ala223Val)
NM_000268.4(NF2):c.670A>G (p.Ile224Val) rs1555994825
NM_000268.4(NF2):c.672C>G (p.Ile224Met)
NM_000268.4(NF2):c.672C>T (p.Ile224=) rs1298953582
NM_000268.4(NF2):c.675+11A>G
NM_000268.4(NF2):c.675+12C>T
NM_000268.4(NF2):c.675+17C>G
NM_000268.4(NF2):c.675+18T>A
NM_000268.4(NF2):c.675+18T>C rs2066374470
NM_000268.4(NF2):c.675+19G>C rs2146991285
NM_000268.4(NF2):c.675+1G>A rs1555994854
NM_000268.4(NF2):c.675+1del rs2146990961
NM_000268.4(NF2):c.675+3_675+6del
NM_000268.4(NF2):c.675+5G>A
NM_000268.4(NF2):c.675+5G>T rs2066373952
NM_000268.4(NF2):c.675G>C (p.Arg225=)
NM_000268.4(NF2):c.675G>T (p.Arg225=) rs1569295986
NM_000268.4(NF2):c.676-10G>A rs1601623842
NM_000268.4(NF2):c.676-11del
NM_000268.4(NF2):c.676-18T>C
NM_000268.4(NF2):c.676-19G>A
NM_000268.4(NF2):c.676-1G>T
NM_000268.4(NF2):c.676-2A>G rs1060503666
NM_000268.4(NF2):c.676-4A>G rs2147007478
NM_000268.4(NF2):c.676-7T>C
NM_000268.4(NF2):c.676-7T>G
NM_000268.4(NF2):c.676A>C (p.Asn226His) rs886057336
NM_000268.4(NF2):c.678T>C (p.Asn226=)
NM_000268.4(NF2):c.679A>T (p.Lys227Ter) rs2066466759
NM_000268.4(NF2):c.67A>C (p.Thr23Pro) rs2064715937
NM_000268.4(NF2):c.67A>G (p.Thr23Ala)
NM_000268.4(NF2):c.686G>T (p.Gly229Val)
NM_000268.4(NF2):c.687C>T (p.Gly229=) rs1339795250
NM_000268.4(NF2):c.691G>C (p.Glu231Gln) rs770019352
NM_000268.4(NF2):c.693G>A (p.Glu231=) rs1250996695
NM_000268.4(NF2):c.696G>A (p.Leu232=) rs1477658956
NM_000268.4(NF2):c.696G>T (p.Leu232=)
NM_000268.4(NF2):c.699G>C (p.Leu233=) rs780003734
NM_000268.4(NF2):c.69C>A (p.Thr23=) rs2064716137
NM_000268.4(NF2):c.69C>G (p.Thr23=) rs2064716137
NM_000268.4(NF2):c.69C>T (p.Thr23=) rs2064716137
NM_000268.4(NF2):c.69dup (p.Val24fs) rs1601515970
NM_000268.4(NF2):c.6C>T (p.Ala2=) rs2064712585
NM_000268.4(NF2):c.702T>C (p.Leu234=)
NM_000268.4(NF2):c.709G>C (p.Asp237His) rs2066467805
NM_000268.4(NF2):c.716T>C (p.Leu239Pro)
NM_000268.4(NF2):c.726C>G (p.His242Gln) rs1480040681
NM_000268.4(NF2):c.728_745del (p.Ile243_Asn248del)
NM_000268.4(NF2):c.731A>G (p.Tyr244Cys) rs2066468739
NM_000268.4(NF2):c.733G>A (p.Asp245Asn) rs2066468835
NM_000268.4(NF2):c.734A>G (p.Asp245Gly)
NM_000268.4(NF2):c.735C>T (p.Asp245=)
NM_000268.4(NF2):c.736C>T (p.Pro246Ser) rs1569297802
NM_000268.4(NF2):c.73A>G (p.Arg25Gly) rs2064716522
NM_000268.4(NF2):c.73A>T (p.Arg25Trp) rs2064716522
NM_000268.4(NF2):c.743A>G (p.Asn248Ser) rs2066469348
NM_000268.4(NF2):c.745A>C (p.Arg249=) rs2147009482
NM_000268.4(NF2):c.745_752del (p.Arg249fs) rs1601624078
NM_000268.4(NF2):c.746G>A (p.Arg249Lys)
NM_000268.4(NF2):c.749T>A (p.Leu250Gln) rs1432132718
NM_000268.4(NF2):c.74G>A (p.Arg25Lys) rs1569259813
NM_000268.4(NF2):c.753C>T (p.Thr251=) rs2147009720
NM_000268.4(NF2):c.754C>G (p.Pro252Ala) rs2066469878
NM_000268.4(NF2):c.759G>A (p.Lys253=) rs760272926
NM_000268.4(NF2):c.762C>T (p.Ile254=)
NM_000268.4(NF2):c.766T>C (p.Phe256Leu) rs1474769404
NM_000268.4(NF2):c.768C>T (p.Phe256=) rs2147010231
NM_000268.4(NF2):c.770C>G (p.Pro257Arg) rs753300935
NM_000268.4(NF2):c.770_784del (p.Pro257_Ile261del) rs2147010188
NM_000268.4(NF2):c.771del (p.Trp258fs)
NM_000268.4(NF2):c.772T>G (p.Trp258Gly) rs1601624186
NM_000268.4(NF2):c.774G>A (p.Trp258Ter) rs2147010427
NM_000268.4(NF2):c.77T>C (p.Ile26Thr) rs1064795612
NM_000268.4(NF2):c.780A>G (p.Glu260=) rs2147010579
NM_000268.4(NF2):c.784C>T (p.Arg262Ter) rs74315496
NM_000268.4(NF2):c.789C>A (p.Asn263Lys) rs1555996218
NM_000268.4(NF2):c.789C>T (p.Asn263=) rs1555996218
NM_000268.4(NF2):c.78C>G (p.Ile26Met) rs2064716954
NM_000268.4(NF2):c.78C>T (p.Ile26=) rs2064716954
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.799A>G (p.Ser267Gly) rs2147011121
NM_000268.4(NF2):c.79G>T (p.Val27Phe)
NM_000268.4(NF2):c.7G>C (p.Gly3Arg)
NM_000268.4(NF2):c.804C>T (p.Asp268=)
NM_000268.4(NF2):c.805A>T (p.Lys269Ter)
NM_000268.4(NF2):c.807G>A (p.Lys269=) rs2147011393
NM_000268.4(NF2):c.80T>C (p.Val27Ala)
NM_000268.4(NF2):c.810+11T>C
NM_000268.4(NF2):c.810+13T>A
NM_000268.4(NF2):c.810+14G>A
NM_000268.4(NF2):c.810+17C>T
NM_000268.4(NF2):c.810+1G>A rs794728682
NM_000268.4(NF2):c.810+23_810+25del rs765519341
NM_000268.4(NF2):c.810+2T>C rs1601624296
NM_000268.4(NF2):c.810+6A>G rs758285145
NM_000268.4(NF2):c.810+7C>T rs2147011639
NM_000268.4(NF2):c.810+9T>A
NM_000268.4(NF2):c.810+9T>C rs143794864
NM_000268.4(NF2):c.810_810+2dup rs1569297926
NM_000268.4(NF2):c.811-10A>G rs527719826
NM_000268.4(NF2):c.811-11C>A rs2147033198
NM_000268.4(NF2):c.811-12T>A rs776342775
NM_000268.4(NF2):c.811-13T>G
NM_000268.4(NF2):c.811-14C>T
NM_000268.4(NF2):c.811-2A>G
NM_000268.4(NF2):c.813T>C (p.Phe271=)
NM_000268.4(NF2):c.817A>G (p.Ile273Val) rs1368184325
NM_000268.4(NF2):c.81C>T (p.Val27=)
NM_000268.4(NF2):c.820A>G (p.Lys274Glu) rs2066578758
NM_000268.4(NF2):c.824C>T (p.Pro275Leu) rs2147033330
NM_000268.4(NF2):c.82A>G (p.Thr28Ala)
NM_000268.4(NF2):c.831T>G (p.Asp277Glu) rs762883753
NM_000268.4(NF2):c.837A>C (p.Lys279Asn)
NM_000268.4(NF2):c.839T>A (p.Ile280Asn) rs2066579439
NM_000268.4(NF2):c.840T>C (p.Ile280=) rs1233245274
NM_000268.4(NF2):c.841G>C (p.Asp281His)
NM_000268.4(NF2):c.842A>T (p.Asp281Val) rs2147033520
NM_000268.4(NF2):c.845T>C (p.Val282Ala) rs1601630493
NM_000268.4(NF2):c.849C>T (p.Phe283=) rs1555997567
NM_000268.4(NF2):c.84C>T (p.Thr28=) rs1410448416
NM_000268.4(NF2):c.851A>C (p.Lys284Thr)
NM_000268.4(NF2):c.851A>G (p.Lys284Arg) rs764034925
NM_000268.4(NF2):c.857A>G (p.Asn286Ser) rs757074151
NM_000268.4(NF2):c.85A>G (p.Met29Val) rs2064717331
NM_000268.4(NF2):c.863C>G (p.Ser288Ter) rs2066580454
NM_000268.4(NF2):c.865A>C (p.Lys289Gln)
NM_000268.4(NF2):c.867G>A (p.Lys289=)
NM_000268.4(NF2):c.872G>T (p.Arg291Leu) rs755200117
NM_000268.4(NF2):c.873T>C (p.Arg291=) rs2147033727
NM_000268.4(NF2):c.876del (p.Asn293fs) rs2147033768
NM_000268.4(NF2):c.87G>A (p.Met29Ile)
NM_000268.4(NF2):c.880A>C (p.Lys294Gln)
NM_000268.4(NF2):c.885+10G>C rs369317112
NM_000268.4(NF2):c.885+6T>C rs1601630628
NM_000268.4(NF2):c.885+9A>C
NM_000268.4(NF2):c.886-18C>T
NM_000268.4(NF2):c.886-20_886-19del rs764324357
NM_000268.4(NF2):c.886-3C>T rs1340263866
NM_000268.4(NF2):c.886-6C>T
NM_000268.4(NF2):c.886-9del rs2147051508
NM_000268.4(NF2):c.891C>T (p.Leu297=) rs755253391
NM_000268.4(NF2):c.892C>T (p.Gln298Ter) rs2147051643
NM_000268.4(NF2):c.895C>G (p.Leu299Val)
NM_000268.4(NF2):c.896T>C (p.Leu299Pro) rs2066685117
NM_000268.4(NF2):c.897A>G (p.Leu299=)
NM_000268.4(NF2):c.89A>G (p.Asp30Gly) rs563168478
NM_000268.4(NF2):c.903C>A (p.Ile301=)
NM_000268.4(NF2):c.904G>A (p.Gly302Arg) rs1255367068
NM_000268.4(NF2):c.906G>C (p.Gly302=)
NM_000268.4(NF2):c.909C>T (p.Asn303=)
NM_000268.4(NF2):c.911A>G (p.His304Arg) rs1555998800
NM_000268.4(NF2):c.915T>C (p.Asp305=) rs1601636823
NM_000268.4(NF2):c.916C>T (p.Leu306=)
NM_000268.4(NF2):c.917T>C (p.Leu306Pro)
NM_000268.4(NF2):c.919T>C (p.Phe307Leu)
NM_000268.4(NF2):c.922A>G (p.Met308Val) rs2066686693
NM_000268.4(NF2):c.923T>C (p.Met308Thr) rs1462083103
NM_000268.4(NF2):c.924G>A (p.Met308Ile) rs2147052129
NM_000268.4(NF2):c.927G>A (p.Arg309=) rs2147052151
NM_000268.4(NF2):c.933del (p.Ala313fs) rs1601636894
NM_000268.4(NF2):c.934A>T (p.Lys312Ter) rs2147052253
NM_000268.4(NF2):c.937G>A (p.Ala313Thr)
NM_000268.4(NF2):c.939C>A (p.Ala313=) rs747526252
NM_000268.4(NF2):c.93C>A (p.Ala31=) rs1601516078
NM_000268.4(NF2):c.941A>G (p.Asp314Gly) rs2147052381
NM_000268.4(NF2):c.942T>C (p.Asp314=)
NM_000268.4(NF2):c.951A>G (p.Glu317=) rs1601636972
NM_000268.4(NF2):c.952G>T (p.Val318Phe) rs996057882
NM_000268.4(NF2):c.956A>T (p.Gln319Leu)
NM_000268.4(NF2):c.958C>T (p.Gln320Ter) rs74315497
NM_000268.4(NF2):c.95A>C (p.Glu32Ala) rs2146660903
NM_000268.4(NF2):c.962T>C (p.Met321Thr) rs2066688680
NM_000268.4(NF2):c.966A>G (p.Lys322=) rs746175548
NM_000268.4(NF2):c.96G>A (p.Glu32=) rs2146660926
NM_000268.4(NF2):c.970C>G (p.Gln324Glu) rs74315500
NM_000268.4(NF2):c.970del (p.Gln324fs) rs1555998851
NM_000268.4(NF2):c.973G>A (p.Ala325Thr)
NM_000268.4(NF2):c.974C>T (p.Ala325Val) rs2066689643
NM_000268.4(NF2):c.976A>G (p.Arg326Gly) rs1569302357
NM_000268.4(NF2):c.978G>A (p.Arg326=) rs1601637089
NM_000268.4(NF2):c.97A>G (p.Met33Val)
NM_000268.4(NF2):c.988G>T (p.Ala330Ser) rs2147053169
NM_000268.4(NF2):c.991A>G (p.Arg331Gly) rs2147053223
NM_000268.4(NF2):c.992G>C (p.Arg331Thr) rs2066690499
NM_000268.4(NF2):c.993A>G (p.Arg331=) rs1601637132
NM_000268.4(NF2):c.999+12C>G rs1420943143
NM_000268.4(NF2):c.999+12C>T
NM_000268.4(NF2):c.999+15G>C
NM_000268.4(NF2):c.999+17T>A
NM_000268.4(NF2):c.999+1G>A rs1569302393
NM_000268.4(NF2):c.999+2T>G rs2147053345
NM_000268.4(NF2):c.999+2_999+3del
NM_000268.4(NF2):c.999+5G>A
NM_000268.4(NF2):c.999+7A>C rs2147053369
NM_000268.4(NF2):c.9G>A (p.Gly3=) rs1280487219
NM_000268.4(NF2):c.9G>C (p.Gly3=) rs1280487219

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