ClinVar Miner

List of variants in gene NF2 reported by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 734
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HGVS dbSNP gnomAD frequency
NM_000268.4(NF2):c.*4G>A rs141099051 0.00165
NM_000268.4(NF2):c.12C>T (p.Ala4=) rs144477078 0.00115
NM_000268.4(NF2):c.1386C>T (p.Arg462=) rs138354622 0.00086
NM_000268.4(NF2):c.1451T>C (p.Met484Thr) rs141538143 0.00082
NM_000268.4(NF2):c.1416C>T (p.Leu472=) rs148776784 0.00081
NM_000268.4(NF2):c.1387G>A (p.Glu463Lys) rs74315503 0.00044
NM_000268.4(NF2):c.1753G>A (p.Ala585Thr) rs145446060 0.00040
NM_000268.4(NF2):c.1113C>T (p.Asn371=) rs142459414 0.00033
NM_000268.4(NF2):c.246G>A (p.Leu82=) rs371270318 0.00021
NM_000268.4(NF2):c.1639G>A (p.Glu547Lys) rs199669486 0.00019
NM_000268.4(NF2):c.1749G>A (p.Gln583=) rs201911915 0.00016
NM_000268.4(NF2):c.613A>G (p.Met205Val) rs141629512 0.00016
NM_000268.4(NF2):c.107A>G (p.Asn36Ser) rs372279458 0.00014
NM_000268.4(NF2):c.1439C>T (p.Thr480Met) rs145666157 0.00013
NM_000268.4(NF2):c.652G>A (p.Gly218Ser) rs776818377 0.00013
NM_000268.4(NF2):c.1505G>A (p.Gly502Asp) rs552115565 0.00012
NM_000268.4(NF2):c.1385G>A (p.Arg462His) rs373650983 0.00011
NM_000268.4(NF2):c.465C>T (p.Pro155=) rs374911526 0.00011
NM_000268.4(NF2):c.1445C>G (p.Pro482Arg) rs766339217 0.00010
NM_000268.4(NF2):c.771G>A (p.Pro257=) rs759032771 0.00010
NM_000268.4(NF2):c.1206C>T (p.Ala402=) rs137953976 0.00009
NM_000268.4(NF2):c.1540A>G (p.Met514Val) rs201527155 0.00009
NM_000268.4(NF2):c.879T>C (p.Asn293=) rs151198477 0.00009
NM_000268.4(NF2):c.48G>A (p.Arg16=) rs774973059 0.00008
NM_000268.4(NF2):c.1392G>A (p.Ala464=) rs375819833 0.00006
NM_000268.4(NF2):c.1455C>T (p.Asn485=) rs368966931 0.00006
NM_000268.4(NF2):c.354C>T (p.Phe118=) rs756564761 0.00006
NM_000268.4(NF2):c.1698C>T (p.Ser566=) rs751987156 0.00005
NM_000268.4(NF2):c.947T>G (p.Leu316Trp) rs750633919 0.00005
NM_000268.4(NF2):c.1248G>A (p.Ala416=) rs759993776 0.00004
NM_000268.4(NF2):c.1252C>T (p.Arg418Cys) rs765540111 0.00004
NM_000268.4(NF2):c.1575-5G>A rs199622889 0.00004
NM_000268.4(NF2):c.1619A>G (p.Asn540Ser) rs774824164 0.00004
NM_000268.4(NF2):c.243_248del (p.Leu82_Asp83del) rs777858863 0.00004
NM_000268.4(NF2):c.255T>C (p.Asp85=) rs375802248 0.00004
NM_000268.4(NF2):c.325C>T (p.Leu109=) rs201603384 0.00004
NM_000268.4(NF2):c.459C>T (p.Tyr153=) rs142972020 0.00004
NM_000268.4(NF2):c.576C>T (p.Tyr192=) rs149803133 0.00004
NM_000268.4(NF2):c.662A>G (p.Tyr221Cys) rs746025177 0.00004
NM_000268.4(NF2):c.1055C>T (p.Thr352Met) rs764441073 0.00003
NM_000268.4(NF2):c.1231C>T (p.Arg411Cys) rs773296925 0.00003
NM_000268.4(NF2):c.1257G>A (p.Thr419=) rs375969005 0.00003
NM_000268.4(NF2):c.1300G>A (p.Glu434Lys) rs992662337 0.00003
NM_000268.4(NF2):c.1490G>C (p.Ser497Thr) rs900545157 0.00003
NM_000268.4(NF2):c.170G>A (p.Arg57Gln) rs368773485 0.00003
NM_000268.4(NF2):c.1774T>C (p.Phe592Leu) rs764972504 0.00003
NM_000268.4(NF2):c.436G>A (p.Val146Ile) rs771572024 0.00003
NM_000268.4(NF2):c.705A>C (p.Gly235=) rs749331641 0.00003
NM_000268.4(NF2):c.783C>T (p.Ile261=) rs765223726 0.00003
NM_000268.4(NF2):c.912T>C (p.His304=) rs200272173 0.00003
NM_000268.4(NF2):c.939C>T (p.Ala313=) rs747526252 0.00003
NM_000268.4(NF2):c.1000-5C>T rs763266359 0.00002
NM_000268.4(NF2):c.1012C>T (p.Arg338Cys) rs761795291 0.00002
NM_000268.4(NF2):c.1013G>A (p.Arg338His) rs768053145 0.00002
NM_000268.4(NF2):c.1018G>A (p.Ala340Thr) rs780430071 0.00002
NM_000268.4(NF2):c.1052G>A (p.Arg351His) rs771675702 0.00002
NM_000268.4(NF2):c.1053C>T (p.Arg351=) rs1179494821 0.00002
NM_000268.4(NF2):c.1077G>A (p.Arg359=) rs878853923 0.00002
NM_000268.4(NF2):c.1138A>G (p.Thr380Ala) rs1468789751 0.00002
NM_000268.4(NF2):c.1212G>A (p.Glu404=) rs748403377 0.00002
NM_000268.4(NF2):c.1299C>T (p.Ala433=) rs749028891 0.00002
NM_000268.4(NF2):c.1391C>T (p.Ala464Val) rs776109136 0.00002
NM_000268.4(NF2):c.1488A>C (p.Pro496=) rs1310563343 0.00002
NM_000268.4(NF2):c.1500C>T (p.Leu500=) rs758182356 0.00002
NM_000268.4(NF2):c.1699G>A (p.Asp567Asn) rs757586383 0.00002
NM_000268.4(NF2):c.515G>A (p.Arg172Lys) rs752963731 0.00002
NM_000268.4(NF2):c.599+3G>A rs768301915 0.00002
NM_000268.4(NF2):c.614T>C (p.Met205Thr) rs747871414 0.00002
NM_000268.4(NF2):c.651C>T (p.Tyr217=) rs367802186 0.00002
NM_000268.4(NF2):c.683A>G (p.Lys228Arg) rs145384260 0.00002
NM_000268.4(NF2):c.699G>T (p.Leu233=) rs780003734 0.00002
NM_000268.4(NF2):c.785G>A (p.Arg262Gln) rs1450914413 0.00002
NM_000268.4(NF2):c.795G>A (p.Ser265=) rs376609988 0.00002
NM_000268.4(NF2):c.861C>T (p.Ser287=) rs143160499 0.00002
NM_000268.4(NF2):c.872G>A (p.Arg291His) rs755200117 0.00002
NM_000268.4(NF2):c.916C>G (p.Leu306Val) rs1399716137 0.00002
NM_000268.4(NF2):c.1000-4G>A rs200113152 0.00001
NM_000268.4(NF2):c.1007G>A (p.Arg336Gln) rs587778554 0.00001
NM_000268.4(NF2):c.100G>C (p.Glu34Gln) rs753425376 0.00001
NM_000268.4(NF2):c.1017C>T (p.Leu339=) rs756568857 0.00001
NM_000268.4(NF2):c.1021C>G (p.Arg341Gly) rs74315499 0.00001
NM_000268.4(NF2):c.1051C>T (p.Arg351Cys) rs747756728 0.00001
NM_000268.4(NF2):c.1056G>A (p.Thr352=) rs145427713 0.00001
NM_000268.4(NF2):c.1065G>C (p.Glu355Asp) rs1277506366 0.00001
NM_000268.4(NF2):c.1112A>G (p.Asn371Ser) rs577940601 0.00001
NM_000268.4(NF2):c.1116A>G (p.Glu372=) rs2066806303 0.00001
NM_000268.4(NF2):c.1126C>T (p.Arg376Trp) rs867367858 0.00001
NM_000268.4(NF2):c.1128G>C (p.Arg376=) rs757322524 0.00001
NM_000268.4(NF2):c.1173C>T (p.Thr391=) rs769454739 0.00001
NM_000268.4(NF2):c.1174G>A (p.Glu392Lys) rs1026724985 0.00001
NM_000268.4(NF2):c.1209A>C (p.Ala403=) rs1026655770 0.00001
NM_000268.4(NF2):c.1215T>G (p.Ala405=) rs772219612 0.00001
NM_000268.4(NF2):c.1232G>A (p.Arg411His) rs201214090 0.00001
NM_000268.4(NF2):c.1247C>T (p.Ala416Val) rs2066862902 0.00001
NM_000268.4(NF2):c.1253G>A (p.Arg418His) rs548217466 0.00001
NM_000268.4(NF2):c.1270C>T (p.Arg424Cys) rs763826793 0.00001
NM_000268.4(NF2):c.1271G>A (p.Arg424His) rs751182657 0.00001
NM_000268.4(NF2):c.1273C>T (p.Leu425=) rs142446775 0.00001
NM_000268.4(NF2):c.1276A>T (p.Met426Leu) rs926406926 0.00001
NM_000268.4(NF2):c.1290G>A (p.Val430=) rs756041768 0.00001
NM_000268.4(NF2):c.1303G>T (p.Val435Leu) rs772334382 0.00001
NM_000268.4(NF2):c.1311A>G (p.Ala437=) rs144628209 0.00001
NM_000268.4(NF2):c.135C>T (p.Asp45=) rs752664255 0.00001
NM_000268.4(NF2):c.1364A>G (p.Lys455Arg) rs1318882444 0.00001
NM_000268.4(NF2):c.1396C>G (p.Arg466Gly) rs74315504 0.00001
NM_000268.4(NF2):c.1400G>A (p.Arg467Lys) rs1294032875 0.00001
NM_000268.4(NF2):c.1413G>A (p.Lys471=) rs1323009570 0.00001
NM_000268.4(NF2):c.1425T>A (p.Ile475=) rs774818801 0.00001
NM_000268.4(NF2):c.142G>A (p.Asp48Asn) rs1352608076 0.00001
NM_000268.4(NF2):c.1440G>A (p.Thr480=) rs774373946 0.00001
NM_000268.4(NF2):c.1443C>T (p.Tyr481=) rs760224815 0.00001
NM_000268.4(NF2):c.1445C>T (p.Pro482Leu) rs766339217 0.00001
NM_000268.4(NF2):c.1446+5G>A rs367829184 0.00001
NM_000268.4(NF2):c.1446G>A (p.Pro482=) rs753751373 0.00001
NM_000268.4(NF2):c.1450A>G (p.Met484Val) rs1182896077 0.00001
NM_000268.4(NF2):c.1453A>T (p.Asn485Tyr) rs1601658875 0.00001
NM_000268.4(NF2):c.1459A>G (p.Ile487Val) rs147506929 0.00001
NM_000268.4(NF2):c.1463C>T (p.Pro488Leu) rs1173959854 0.00001
NM_000268.4(NF2):c.1469C>T (p.Pro490Leu) rs765100922 0.00001
NM_000268.4(NF2):c.1470G>T (p.Pro490=) rs373442542 0.00001
NM_000268.4(NF2):c.1502T>C (p.Ile501Thr) rs767682136 0.00001
NM_000268.4(NF2):c.1511G>T (p.Ser504Ile) rs756366940 0.00001
NM_000268.4(NF2):c.1518T>A (p.Ser506=) rs780287551 0.00001
NM_000268.4(NF2):c.1522G>A (p.Asp508Asn) rs749326764 0.00001
NM_000268.4(NF2):c.1529A>G (p.Lys510Arg) rs886057337 0.00001
NM_000268.4(NF2):c.1548G>T (p.Arg516=) rs534398531 0.00001
NM_000268.4(NF2):c.154C>T (p.Arg52Trp) rs764901064 0.00001
NM_000268.4(NF2):c.1569A>G (p.Lys523=) rs1194010738 0.00001
NM_000268.4(NF2):c.1586T>C (p.Met529Thr) rs780818183 0.00001
NM_000268.4(NF2):c.162G>A (p.Leu54=) rs1369726524 0.00001
NM_000268.4(NF2):c.1638C>T (p.Ile546=) rs774264046 0.00001
NM_000268.4(NF2):c.1671T>C (p.Ala557=) rs759780271 0.00001
NM_000268.4(NF2):c.1675G>T (p.Asp559Tyr) rs917012886 0.00001
NM_000268.4(NF2):c.1678A>G (p.Ile560Val) rs557347747 0.00001
NM_000268.4(NF2):c.1688A>G (p.Asn563Ser) rs768303416 0.00001
NM_000268.4(NF2):c.1691A>G (p.Glu564Gly) rs1416009957 0.00001
NM_000268.4(NF2):c.1701C>G (p.Asp567Glu) rs1049732514 0.00001
NM_000268.4(NF2):c.1702_1703del (p.Arg568fs) rs755032702 0.00001
NM_000268.4(NF2):c.1706G>A (p.Gly569Asp) rs781488145 0.00001
NM_000268.4(NF2):c.1752C>T (p.Ser584=) rs370999558 0.00001
NM_000268.4(NF2):c.1763G>A (p.Arg588Gln) rs766689587 0.00001
NM_000268.4(NF2):c.1765G>A (p.Val589Met) rs1293851600 0.00001
NM_000268.4(NF2):c.182T>C (p.Phe61Ser) rs1286915234 0.00001
NM_000268.4(NF2):c.196T>A (p.Tyr66Asn) rs772274240 0.00001
NM_000268.4(NF2):c.251A>G (p.His84Arg) rs773740023 0.00001
NM_000268.4(NF2):c.274G>A (p.Val92Ile) rs145935225 0.00001
NM_000268.4(NF2):c.279C>T (p.Thr93=) rs758722464 0.00001
NM_000268.4(NF2):c.296A>G (p.Lys99Arg) rs181794923 0.00001
NM_000268.4(NF2):c.302A>G (p.Tyr101Cys) rs1240469044 0.00001
NM_000268.4(NF2):c.318A>G (p.Glu106=) rs535626069 0.00001
NM_000268.4(NF2):c.334G>A (p.Glu112Lys) rs781593146 0.00001
NM_000268.4(NF2):c.343C>G (p.Gln115Glu) rs1350618734 0.00001
NM_000268.4(NF2):c.347A>G (p.His116Arg) rs371373672 0.00001
NM_000268.4(NF2):c.364-5T>C rs1330676517 0.00001
NM_000268.4(NF2):c.432C>T (p.Tyr144=) rs1060503667 0.00001
NM_000268.4(NF2):c.435C>T (p.Ala145=) rs955424447 0.00001
NM_000268.4(NF2):c.457T>C (p.Tyr153His) rs1374299963 0.00001
NM_000268.4(NF2):c.478C>T (p.Arg160Trp) rs150667239 0.00001
NM_000268.4(NF2):c.521T>C (p.Ile174Thr) rs1346860299 0.00001
NM_000268.4(NF2):c.542C>T (p.Pro181Leu) rs1362524399 0.00001
NM_000268.4(NF2):c.543G>A (p.Pro181=) rs139838280 0.00001
NM_000268.4(NF2):c.577G>A (p.Ala193Thr) rs1427589827 0.00001
NM_000268.4(NF2):c.595G>A (p.Ala199Thr) rs1261707371 0.00001
NM_000268.4(NF2):c.598A>G (p.Arg200Gly) rs1487106309 0.00001
NM_000268.4(NF2):c.673C>T (p.Arg225Trp) rs1386029079 0.00001
NM_000268.4(NF2):c.674G>A (p.Arg225Gln) rs543087642 0.00001
NM_000268.4(NF2):c.675+4T>C rs1306740609 0.00001
NM_000268.4(NF2):c.685G>T (p.Gly229Cys) rs1028670573 0.00001
NM_000268.4(NF2):c.687C>A (p.Gly229=) rs1339795250 0.00001
NM_000268.4(NF2):c.713C>T (p.Ala238Val) rs761195572 0.00001
NM_000268.4(NF2):c.71T>C (p.Val24Ala) rs773714780 0.00001
NM_000268.4(NF2):c.720G>T (p.Gly240=) rs769348972 0.00001
NM_000268.4(NF2):c.726C>T (p.His242=) rs1480040681 0.00001
NM_000268.4(NF2):c.72G>A (p.Val24=) rs761062232 0.00001
NM_000268.4(NF2):c.72G>C (p.Val24=) rs761062232 0.00001
NM_000268.4(NF2):c.738T>C (p.Pro246=) rs147665163 0.00001
NM_000268.4(NF2):c.758A>G (p.Lys253Arg) rs773573049 0.00001
NM_000268.4(NF2):c.769C>T (p.Pro257Ser) rs777059212 0.00001
NM_000268.4(NF2):c.76A>G (p.Ile26Val) rs2064716753 0.00001
NM_000268.4(NF2):c.770C>T (p.Pro257Leu) rs753300935 0.00001
NM_000268.4(NF2):c.798C>T (p.Tyr266=) rs917257652 0.00001
NM_000268.4(NF2):c.826C>T (p.Leu276=) rs764702893 0.00001
NM_000268.4(NF2):c.852G>A (p.Lys284=) rs1184031479 0.00001
NM_000268.4(NF2):c.874G>A (p.Val292Ile) rs1442581021 0.00001
NM_000268.4(NF2):c.882G>A (p.Lys294=) rs146166875 0.00001
NM_000268.4(NF2):c.903C>T (p.Ile301=) rs199957176 0.00001
NM_000268.4(NF2):c.930A>G (p.Arg310=) rs1408103989 0.00001
NM_000268.4(NF2):c.932G>A (p.Arg311Lys) rs1169276398 0.00001
NM_000268.4(NF2):c.940G>A (p.Asp314Asn) rs1365006505 0.00001
NM_000268.4(NF2):c.946T>C (p.Leu316=) rs1326342694 0.00001
NM_000268.4(NF2):c.94G>A (p.Glu32Lys) rs373337083 0.00001
NM_000268.4(NF2):c.952G>A (p.Val318Ile) rs996057882 0.00001
NM_000268.4(NF2):c.983A>T (p.Glu328Val) rs200372028 0.00001
NM_000268.4(NF2):c.999G>C (p.Gln333His) rs1469191017 0.00001
NM_000268.4(NF2):c.-1C>T
NM_000268.4(NF2):c.-4_-3delinsAA
NM_000268.4(NF2):c.-5G>A
NM_000268.4(NF2):c.-5G>T
NM_000268.4(NF2):c.1000-2A>T
NM_000268.4(NF2):c.1000A>G (p.Met334Val) rs1556000094
NM_000268.4(NF2):c.1001T>A (p.Met334Lys) rs2066798910
NM_000268.4(NF2):c.1001T>G (p.Met334Arg)
NM_000268.4(NF2):c.1005G>A (p.Glu335=) rs2147070975
NM_000268.4(NF2):c.1006C>T (p.Arg336Trp) rs140266312
NM_000268.4(NF2):c.1008G>C (p.Arg336=)
NM_000268.4(NF2):c.1013G>T (p.Arg338Leu)
NM_000268.4(NF2):c.1016T>G (p.Leu339Arg)
NM_000268.4(NF2):c.1018G>T (p.Ala340Ser) rs780430071
NM_000268.4(NF2):c.1021C>T (p.Arg341Ter) rs74315499
NM_000268.4(NF2):c.1022G>A (p.Arg341Gln) rs754087071
NM_000268.4(NF2):c.1022G>T (p.Arg341Leu) rs754087071
NM_000268.4(NF2):c.1028A>C (p.Lys343Thr)
NM_000268.4(NF2):c.1029G>A (p.Lys343=)
NM_000268.4(NF2):c.1029_1050del (p.Lys343fs)
NM_000268.4(NF2):c.1034T>G (p.Met345Arg)
NM_000268.4(NF2):c.1036A>T (p.Arg346Trp)
NM_000268.4(NF2):c.1038G>A (p.Arg346=)
NM_000268.4(NF2):c.1040A>T (p.Glu347Val)
NM_000268.4(NF2):c.1058G>A (p.Arg353Lys) rs2147072682
NM_000268.4(NF2):c.1059G>A (p.Arg353=) rs1379674036
NM_000268.4(NF2):c.1059G>C (p.Arg353Ser) rs1379674036
NM_000268.4(NF2):c.105C>T (p.Phe35=) rs976153071
NM_000268.4(NF2):c.1060G>A (p.Asp354Asn) rs1435353346
NM_000268.4(NF2):c.1061A>C (p.Asp354Ala) rs1601644179
NM_000268.4(NF2):c.1064A>T (p.Glu355Val)
NM_000268.4(NF2):c.106A>G (p.Asn36Asp)
NM_000268.4(NF2):c.1075A>G (p.Arg359Gly)
NM_000268.4(NF2):c.1077G>C (p.Arg359Ser)
NM_000268.4(NF2):c.107A>T (p.Asn36Ile) rs372279458
NM_000268.4(NF2):c.1081C>T (p.Leu361=) rs1299012538
NM_000268.4(NF2):c.1088T>G (p.Met363Arg) rs2066804849
NM_000268.4(NF2):c.1092A>G (p.Lys364=) rs1601644296
NM_000268.4(NF2):c.1092A>T (p.Lys364Asn) rs1601644296
NM_000268.4(NF2):c.10G>T (p.Ala4Ser) rs2146659577
NM_000268.4(NF2):c.1100C>G (p.Ala367Gly)
NM_000268.4(NF2):c.1101A>G (p.Ala367=) rs1601644304
NM_000268.4(NF2):c.1103C>T (p.Thr368Ile) rs1556000214
NM_000268.4(NF2):c.1105A>C (p.Met369Leu)
NM_000268.4(NF2):c.1105A>G (p.Met369Val) rs1325119842
NM_000268.4(NF2):c.1107G>A (p.Met369Ile)
NM_000268.4(NF2):c.1117G>A (p.Ala373Thr)
NM_000268.4(NF2):c.1123A>G (p.Met375Val) rs2147082175
NM_000268.4(NF2):c.1124T>G (p.Met375Arg)
NM_000268.4(NF2):c.1125G>A (p.Met375Ile)
NM_000268.4(NF2):c.1127G>A (p.Arg376Gln) rs996964764
NM_000268.4(NF2):c.1127G>C (p.Arg376Pro)
NM_000268.4(NF2):c.1127G>T (p.Arg376Leu) rs996964764
NM_000268.4(NF2):c.1131T>C (p.Ser377=)
NM_000268.4(NF2):c.1134G>A (p.Glu378=)
NM_000268.4(NF2):c.114+4A>G rs1207246677
NM_000268.4(NF2):c.1140A>G (p.Thr380=)
NM_000268.4(NF2):c.1146C>A (p.Asp382Glu)
NM_000268.4(NF2):c.1147C>T (p.Leu383=)
NM_000268.4(NF2):c.1149G>A (p.Leu383=) rs2147082336
NM_000268.4(NF2):c.115-4G>T
NM_000268.4(NF2):c.1155T>C (p.Ala385=) rs745717285
NM_000268.4(NF2):c.115A>G (p.Met39Val) rs761188569
NM_000268.4(NF2):c.1163C>T (p.Ala388Val) rs587778553
NM_000268.4(NF2):c.1167G>C (p.Gln389His)
NM_000268.4(NF2):c.1176G>A (p.Glu392=)
NM_000268.4(NF2):c.1179G>A (p.Glu393=) rs1601648277
NM_000268.4(NF2):c.1182G>A (p.Glu394=) rs1601648289
NM_000268.4(NF2):c.1183G>T (p.Ala395Ser) rs1601648303
NM_000268.4(NF2):c.1191_1193del (p.Leu398del)
NM_000268.4(NF2):c.1197C>T (p.Ala399=) rs952523049
NM_000268.4(NF2):c.1203G>T (p.Lys401Asn)
NM_000268.4(NF2):c.1205C>T (p.Ala402Val)
NM_000268.4(NF2):c.1209A>G (p.Ala403=) rs1026655770
NM_000268.4(NF2):c.120G>A (p.Lys40=)
NM_000268.4(NF2):c.1215T>C (p.Ala405=)
NM_000268.4(NF2):c.1220A>G (p.Gln407Arg)
NM_000268.4(NF2):c.1222G>A (p.Glu408Lys)
NM_000268.4(NF2):c.1229A>G (p.Gln410Arg)
NM_000268.4(NF2):c.1233C>A (p.Arg411=)
NM_000268.4(NF2):c.1243A>G (p.Thr415Ala) rs776970251
NM_000268.4(NF2):c.1245A>C (p.Thr415=)
NM_000268.4(NF2):c.1245A>G (p.Thr415=) rs2147083167
NM_000268.4(NF2):c.1251T>G (p.Ile417Met)
NM_000268.4(NF2):c.1256C>T (p.Thr419Met) rs1216540232
NM_000268.4(NF2):c.1257G>C (p.Thr419=) rs375969005
NM_000268.4(NF2):c.1258GAG[2] (p.Glu422del) rs2066863778
NM_000268.4(NF2):c.1266G>A (p.Glu422=)
NM_000268.4(NF2):c.1268A>C (p.Lys423Thr)
NM_000268.4(NF2):c.1269G>T (p.Lys423Asn)
NM_000268.4(NF2):c.126A>G (p.Lys42=) rs1601578848
NM_000268.4(NF2):c.1270C>A (p.Arg424Ser) rs763826793
NM_000268.4(NF2):c.1270C>G (p.Arg424Gly) rs763826793
NM_000268.4(NF2):c.1271G>T (p.Arg424Leu) rs751182657
NM_000268.4(NF2):c.1272C>A (p.Arg424=) rs781241303
NM_000268.4(NF2):c.1276A>G (p.Met426Val)
NM_000268.4(NF2):c.1278G>A (p.Met426Ile)
NM_000268.4(NF2):c.1282C>T (p.Gln428Ter)
NM_000268.4(NF2):c.1288G>T (p.Val430Leu) rs1361867592
NM_000268.4(NF2):c.1297G>A (p.Ala433Thr) rs1449875899
NM_000268.4(NF2):c.1298C>T (p.Ala433Val) rs779721863
NM_000268.4(NF2):c.12_22delinsTTCA (p.Ile5fs)
NM_000268.4(NF2):c.1303G>A (p.Val435Met) rs772334382
NM_000268.4(NF2):c.1308G>T (p.Leu436=)
NM_000268.4(NF2):c.1312C>T (p.Leu438=)
NM_000268.4(NF2):c.1315A>C (p.Lys439Gln)
NM_000268.4(NF2):c.1317G>A (p.Lys439=) rs1556000937
NM_000268.4(NF2):c.1318A>T (p.Met440Leu)
NM_000268.4(NF2):c.1321G>A (p.Ala441Thr)
NM_000268.4(NF2):c.1323T>A (p.Ala441=) rs1556000942
NM_000268.4(NF2):c.1327G>A (p.Glu443Lys) rs1181051479
NM_000268.4(NF2):c.1327G>T (p.Glu443Ter)
NM_000268.4(NF2):c.1332A>C (p.Ser444=)
NM_000268.4(NF2):c.1333G>C (p.Glu445Gln)
NM_000268.4(NF2):c.133G>T (p.Asp45Tyr)
NM_000268.4(NF2):c.1341G>A (p.Arg447=) rs2066911364
NM_000268.4(NF2):c.1341G>T (p.Arg447Ser)
NM_000268.4(NF2):c.1342G>A (p.Ala448Thr) rs2066911470
NM_000268.4(NF2):c.1343C>G (p.Ala448Gly) rs2066911555
NM_000268.4(NF2):c.1343C>T (p.Ala448Val) rs2066911555
NM_000268.4(NF2):c.134A>G (p.Asp45Gly)
NM_000268.4(NF2):c.1354G>A (p.Asp452Asn)
NM_000268.4(NF2):c.1356T>C (p.Asp452=)
NM_000268.4(NF2):c.1357C>G (p.Gln453Glu) rs1556001358
NM_000268.4(NF2):c.1358A>T (p.Gln453Leu)
NM_000268.4(NF2):c.1360C>T (p.Leu454=) rs1274431013
NM_000268.4(NF2):c.1362G>A (p.Leu454=)
NM_000268.4(NF2):c.1364A>C (p.Lys455Thr)
NM_000268.4(NF2):c.1368G>A (p.Gln456=)
NM_000268.4(NF2):c.1371C>A (p.Asp457Glu) rs1220807117
NM_000268.4(NF2):c.1372C>T (p.Leu458=)
NM_000268.4(NF2):c.1374G>A (p.Leu458=)
NM_000268.4(NF2):c.1379A>G (p.Glu460Gly)
NM_000268.4(NF2):c.1382C>A (p.Ala461Glu)
NM_000268.4(NF2):c.1382C>T (p.Ala461Val)
NM_000268.4(NF2):c.1384C>T (p.Arg462Cys) rs771143279
NM_000268.4(NF2):c.1389G>A (p.Glu463=)
NM_000268.4(NF2):c.138C>A (p.Leu46=)
NM_000268.4(NF2):c.1395G>A (p.Glu465=) rs1556001388
NM_000268.4(NF2):c.1396C>A (p.Arg466=)
NM_000268.4(NF2):c.1396C>T (p.Arg466Ter) rs74315504
NM_000268.4(NF2):c.1397G>A (p.Arg466Gln) rs866689896
NM_000268.4(NF2):c.1397G>T (p.Arg466Leu) rs866689896
NM_000268.4(NF2):c.1399A>C (p.Arg467=)
NM_000268.4(NF2):c.1404C>G (p.Ala468=)
NM_000268.4(NF2):c.1416C>A (p.Leu472=)
NM_000268.4(NF2):c.1418T>G (p.Leu473Arg)
NM_000268.4(NF2):c.1421A>G (p.Glu474Gly)
NM_000268.4(NF2):c.1423A>G (p.Ile475Val)
NM_000268.4(NF2):c.1431C>A (p.Thr477=) rs2147093689
NM_000268.4(NF2):c.1431C>T (p.Thr477=)
NM_000268.4(NF2):c.1439C>A (p.Thr480Lys) rs145666157
NM_000268.4(NF2):c.1447-1G>T
NM_000268.4(NF2):c.144T>C (p.Asp48=)
NM_000268.4(NF2):c.1457C>T (p.Pro486Leu)
NM_000268.4(NF2):c.1459A>C (p.Ile487Leu) rs147506929
NM_000268.4(NF2):c.145T>C (p.Leu49=)
NM_000268.4(NF2):c.145T>G (p.Leu49Val)
NM_000268.4(NF2):c.1463del (p.Pro488fs)
NM_000268.4(NF2):c.1465_1467del (p.Ala489del) rs1601658938
NM_000268.4(NF2):c.1466C>T (p.Ala489Val) rs1156963577
NM_000268.4(NF2):c.1468C>T (p.Pro490Ser) rs776076922
NM_000268.4(NF2):c.1470G>A (p.Pro490=) rs373442542
NM_000268.4(NF2):c.1471T>C (p.Leu491=)
NM_000268.4(NF2):c.1472T>C (p.Leu491Ser)
NM_000268.4(NF2):c.1478C>T (p.Pro493Leu)
NM_000268.4(NF2):c.1483A>G (p.Ile495Val) rs1194776777
NM_000268.4(NF2):c.1489A>G (p.Ser497Gly)
NM_000268.4(NF2):c.1490G>A (p.Ser497Asn)
NM_000268.4(NF2):c.1494C>T (p.Phe498=) rs1060504990
NM_000268.4(NF2):c.1501A>G (p.Ile501Val) rs1315864916
NM_000268.4(NF2):c.1507del (p.Asp503fs)
NM_000268.4(NF2):c.150G>A (p.Val50=) rs1601578932
NM_000268.4(NF2):c.1516T>A (p.Ser506Thr)
NM_000268.4(NF2):c.1521C>A (p.Phe507Leu)
NM_000268.4(NF2):c.1521C>T (p.Phe507=) rs994823423
NM_000268.4(NF2):c.1527C>T (p.Phe509=) rs2067026804
NM_000268.4(NF2):c.1533T>C (p.Asp511=) rs1601659271
NM_000268.4(NF2):c.153C>T (p.Cys51=)
NM_000268.4(NF2):c.1546C>A (p.Arg516=)
NM_000268.4(NF2):c.1546C>T (p.Arg516Trp) rs762588182
NM_000268.4(NF2):c.1547G>A (p.Arg516Gln) rs1569309694
NM_000268.4(NF2):c.1550T>C (p.Leu517Pro) rs1556002568
NM_000268.4(NF2):c.1551T>C (p.Leu517=)
NM_000268.4(NF2):c.1554C>T (p.Ser518=)
NM_000268.4(NF2):c.1555A>G (p.Met519Val)
NM_000268.4(NF2):c.1558G>A (p.Glu520Lys)
NM_000268.4(NF2):c.155G>A (p.Arg52Gln)
NM_000268.4(NF2):c.1562T>G (p.Ile521Arg)
NM_000268.4(NF2):c.1567A>G (p.Lys523Glu) rs2067028599
NM_000268.4(NF2):c.1574+4T>C rs1556002586
NM_000268.4(NF2):c.1574+4T>G
NM_000268.4(NF2):c.1574A>G (p.Lys525Arg)
NM_000268.4(NF2):c.1575-12T>G
NM_000268.4(NF2):c.1575-1G>C
NM_000268.4(NF2):c.1575A>C (p.Lys525Asn) rs1060503673
NM_000268.4(NF2):c.1577T>C (p.Val526Ala)
NM_000268.4(NF2):c.1579G>A (p.Glu527Lys)
NM_000268.4(NF2):c.1580A>T (p.Glu527Val)
NM_000268.4(NF2):c.1584C>T (p.Tyr528=)
NM_000268.4(NF2):c.1585A>G (p.Met529Val) rs1456599218
NM_000268.4(NF2):c.159T>A (p.Thr53=)
NM_000268.4(NF2):c.15C>G (p.Ile5Met) rs998779035
NM_000268.4(NF2):c.1601A>G (p.His534Arg) rs2147122511
NM_000268.4(NF2):c.1605G>A (p.Leu535=)
NM_000268.4(NF2):c.1606C>T (p.Gln536Ter) rs2147122581
NM_000268.4(NF2):c.1608G>A (p.Gln536=)
NM_000268.4(NF2):c.160C>T (p.Leu54=)
NM_000268.4(NF2):c.1611G>T (p.Glu537Asp) rs946609084
NM_000268.4(NF2):c.1612C>T (p.Gln538Ter) rs2147122623
NM_000268.4(NF2):c.1614G>A (p.Gln538=)
NM_000268.4(NF2):c.1615C>T (p.Leu539Phe)
NM_000268.4(NF2):c.1618A>G (p.Asn540Asp)
NM_000268.4(NF2):c.161T>G (p.Leu54Arg)
NM_000268.4(NF2):c.1624C>T (p.Leu542Phe)
NM_000268.4(NF2):c.1626C>T (p.Leu542=)
NM_000268.4(NF2):c.1627A>T (p.Lys543Ter) rs878853925
NM_000268.4(NF2):c.1630A>G (p.Thr544Ala) rs762953921
NM_000268.4(NF2):c.1633G>C (p.Glu545Gln)
NM_000268.4(NF2):c.1635A>T (p.Glu545Asp) rs1556003698
NM_000268.4(NF2):c.1642G>A (p.Ala548Thr)
NM_000268.4(NF2):c.1643C>T (p.Ala548Val)
NM_000268.4(NF2):c.1650A>T (p.Lys550Asn)
NM_000268.4(NF2):c.1652_1655del (p.Leu551fs)
NM_000268.4(NF2):c.1660A>C (p.Arg554=)
NM_000268.4(NF2):c.1660A>G (p.Arg554Gly) rs1601666203
NM_000268.4(NF2):c.1661G>A (p.Arg554Lys) rs2067134618
NM_000268.4(NF2):c.1661G>C (p.Arg554Thr)
NM_000268.4(NF2):c.1663G>C (p.Glu555Gln)
NM_000268.4(NF2):c.1665G>A (p.Glu555=)
NM_000268.4(NF2):c.1666A>G (p.Thr556Ala)
NM_000268.4(NF2):c.1667C>T (p.Thr556Ile)
NM_000268.4(NF2):c.1670C>G (p.Ala557Gly)
NM_000268.4(NF2):c.1672C>G (p.Leu558Val)
NM_000268.4(NF2):c.1676A>G (p.Asp559Gly)
NM_000268.4(NF2):c.1678A>T (p.Ile560Phe) rs557347747
NM_000268.4(NF2):c.1683G>A (p.Leu561=) rs758955756
NM_000268.4(NF2):c.1683G>T (p.Leu561=) rs758955756
NM_000268.4(NF2):c.1684C>A (p.His562Asn)
NM_000268.4(NF2):c.1684C>T (p.His562Tyr)
NM_000268.4(NF2):c.1685A>T (p.His562Leu) rs878853926
NM_000268.4(NF2):c.1687A>G (p.Asn563Asp)
NM_000268.4(NF2):c.1692G>A (p.Glu564=)
NM_000268.4(NF2):c.1693A>T (p.Asn565Tyr) rs1601666359
NM_000268.4(NF2):c.1696T>C (p.Ser566Pro)
NM_000268.4(NF2):c.169C>T (p.Arg57Ter) rs121434259
NM_000268.4(NF2):c.16G>A (p.Ala6Thr)
NM_000268.4(NF2):c.16G>C (p.Ala6Pro) rs1601515753
NM_000268.4(NF2):c.1703G>T (p.Arg568Met)
NM_000268.4(NF2):c.1704G>T (p.Arg568Ser)
NM_000268.4(NF2):c.1707T>C (p.Gly569=)
NM_000268.4(NF2):c.1712G>A (p.Ser571Asn) rs2067137196
NM_000268.4(NF2):c.1714A>C (p.Ser572Arg) rs1379683835
NM_000268.4(NF2):c.1720C>A (p.His574Asn)
NM_000268.4(NF2):c.1721A>C (p.His574Pro) rs1601666509
NM_000268.4(NF2):c.1721A>G (p.His574Arg) rs1601666509
NM_000268.4(NF2):c.1722C>G (p.His574Gln)
NM_000268.4(NF2):c.1722C>T (p.His574=) rs1041539951
NM_000268.4(NF2):c.1725T>C (p.Asn575=)
NM_000268.4(NF2):c.1726A>T (p.Thr576Ser) rs1601666549
NM_000268.4(NF2):c.1731T>C (p.Ile577=)
NM_000268.4(NF2):c.1737+1G>T rs1556003799
NM_000268.4(NF2):c.1737+5C>G
NM_000268.4(NF2):c.1738-3C>A rs2147171627
NM_000268.4(NF2):c.1739_1747del (p.Leu580_Leu582del) rs1060503674
NM_000268.4(NF2):c.1741A>C (p.Thr581Pro) rs1601688849
NM_000268.4(NF2):c.1744T>C (p.Leu582=)
NM_000268.4(NF2):c.174A>C (p.Glu58Asp)
NM_000268.4(NF2):c.1753G>T (p.Ala585Ser) rs145446060
NM_000268.4(NF2):c.1758G>C (p.Lys586Asn)
NM_000268.4(NF2):c.1762C>A (p.Arg588=) rs1341371726
NM_000268.4(NF2):c.1762C>T (p.Arg588Ter) rs1341371726
NM_000268.4(NF2):c.1764A>C (p.Arg588=) rs1601688952
NM_000268.4(NF2):c.1764A>G (p.Arg588=)
NM_000268.4(NF2):c.1769C>G (p.Ala590Gly)
NM_000268.4(NF2):c.1776T>C (p.Phe592=) rs1290530587
NM_000268.4(NF2):c.1779A>G (p.Glu593=) rs2147171983
NM_000268.4(NF2):c.177C>G (p.Thr59=) rs757125309
NM_000268.4(NF2):c.1780G>A (p.Glu594Lys)
NM_000268.4(NF2):c.1783C>T (p.Leu595Phe) rs1601689027
NM_000268.4(NF2):c.179G>C (p.Trp60Ser)
NM_000268.4(NF2):c.183C>T (p.Phe61=) rs2146853392
NM_000268.4(NF2):c.186T>C (p.Phe62=) rs373178836
NM_000268.4(NF2):c.190C>T (p.Leu64=) rs779218238
NM_000268.4(NF2):c.192G>A (p.Leu64=)
NM_000268.4(NF2):c.194A>G (p.Gln65Arg)
NM_000268.4(NF2):c.201A>G (p.Thr67=)
NM_000268.4(NF2):c.202A>G (p.Ile68Val)
NM_000268.4(NF2):c.204C>T (p.Ile68=)
NM_000268.4(NF2):c.20C>T (p.Ser7Phe) rs2146659687
NM_000268.4(NF2):c.211A>G (p.Thr71Ala)
NM_000268.4(NF2):c.213A>G (p.Thr71=) rs2065662742
NM_000268.4(NF2):c.215T>C (p.Val72Ala) rs1260510937
NM_000268.4(NF2):c.216G>A (p.Val72=) rs1601579272
NM_000268.4(NF2):c.216G>C (p.Val72=) rs1601579272
NM_000268.4(NF2):c.219C>T (p.Ala73=) rs2146854444
NM_000268.4(NF2):c.21C>T (p.Ser7=)
NM_000268.4(NF2):c.22C>A (p.Arg8Ser)
NM_000268.4(NF2):c.22C>G (p.Arg8Gly)
NM_000268.4(NF2):c.22_23delinsAA (p.Arg8Asn)
NM_000268.4(NF2):c.230T>C (p.Met77Thr)
NM_000268.4(NF2):c.231G>A (p.Met77Ile)
NM_000268.4(NF2):c.231G>T (p.Met77Ile)
NM_000268.4(NF2):c.235A>G (p.Lys79Glu)
NM_000268.4(NF2):c.23G>A (p.Arg8His)
NM_000268.4(NF2):c.23G>T (p.Arg8Leu) rs775564806
NM_000268.4(NF2):c.240+1G>C rs587776562
NM_000268.4(NF2):c.240+5G>A
NM_000268.4(NF2):c.240G>A (p.Lys80=) rs1555986950
NM_000268.4(NF2):c.241G>A (p.Val81Ile)
NM_000268.4(NF2):c.243A>T (p.Val81=)
NM_000268.4(NF2):c.245T>C (p.Leu82Pro) rs2065727847
NM_000268.4(NF2):c.247G>C (p.Asp83His)
NM_000268.4(NF2):c.252T>A (p.His84Gln)
NM_000268.4(NF2):c.252T>C (p.His84=) rs374512699
NM_000268.4(NF2):c.25A>G (p.Met9Val) rs1249717688
NM_000268.4(NF2):c.263A>G (p.Lys88Arg) rs547255779
NM_000268.4(NF2):c.269A>G (p.Glu90Gly)
NM_000268.4(NF2):c.272C>G (p.Pro91Arg) rs1569281659
NM_000268.4(NF2):c.281T>G (p.Phe94Cys) rs1601583588
NM_000268.4(NF2):c.288C>T (p.Phe96=) rs1003303140
NM_000268.4(NF2):c.294C>G (p.Ala98=) rs1555987671
NM_000268.4(NF2):c.294C>T (p.Ala98=) rs1555987671
NM_000268.4(NF2):c.302A>T (p.Tyr101Phe) rs1240469044
NM_000268.4(NF2):c.320A>G (p.Glu107Gly)
NM_000268.4(NF2):c.328G>C (p.Val110Leu) rs1601583759
NM_000268.4(NF2):c.32T>G (p.Phe11Cys) rs2064714417
NM_000268.4(NF2):c.336G>A (p.Glu112=) rs2146872481
NM_000268.4(NF2):c.339C>T (p.Ile113=) rs2065732712
NM_000268.4(NF2):c.340A>T (p.Thr114Ser)
NM_000268.4(NF2):c.342ACA[1] (p.Gln115del) rs1601583772
NM_000268.4(NF2):c.345A>T (p.Gln115His) rs746369012
NM_000268.4(NF2):c.348T>C (p.His116=)
NM_000268.4(NF2):c.352T>G (p.Phe118Val) rs2065733287
NM_000268.4(NF2):c.361C>A (p.Gln121Lys)
NM_000268.4(NF2):c.361C>G (p.Gln121Glu) rs1006294051
NM_000268.4(NF2):c.362A>G (p.Gln121Arg) rs2146873198
NM_000268.4(NF2):c.363+2T>C rs2146873271
NM_000268.4(NF2):c.364-3C>T rs2065829595
NM_000268.4(NF2):c.365T>C (p.Val122Ala)
NM_000268.4(NF2):c.366A>G (p.Val122=) rs750431087
NM_000268.4(NF2):c.36C>T (p.Ser12=) rs371800843
NM_000268.4(NF2):c.370A>C (p.Lys124Gln) rs1601589425
NM_000268.4(NF2):c.375G>C (p.Gln125His) rs2065829948
NM_000268.4(NF2):c.376A>G (p.Ile126Val) rs780483061
NM_000268.4(NF2):c.392T>C (p.Ile131Thr)
NM_000268.4(NF2):c.392T>G (p.Ile131Ser)
NM_000268.4(NF2):c.393C>A (p.Ile131=)
NM_000268.4(NF2):c.3G>A (p.Met1Ile)
NM_000268.4(NF2):c.401C>T (p.Pro134Leu) rs1029716358
NM_000268.4(NF2):c.402T>C (p.Pro134=) rs2065830830
NM_000268.4(NF2):c.402T>G (p.Pro134=) rs2065830830
NM_000268.4(NF2):c.405T>C (p.Pro135=)
NM_000268.4(NF2):c.410C>A (p.Ala137Asp)
NM_000268.4(NF2):c.41T>C (p.Leu14Pro)
NM_000268.4(NF2):c.420C>A (p.Leu140=) rs2146894238
NM_000268.4(NF2):c.420C>T (p.Leu140=)
NM_000268.4(NF2):c.423G>C (p.Leu141=)
NM_000268.4(NF2):c.424G>T (p.Ala142Ser)
NM_000268.4(NF2):c.425C>A (p.Ala142Asp)
NM_000268.4(NF2):c.433G>A (p.Ala145Thr) rs1185977513
NM_000268.4(NF2):c.437T>C (p.Val146Ala)
NM_000268.4(NF2):c.43A>C (p.Lys15Gln)
NM_000268.4(NF2):c.445A>G (p.Lys149Glu)
NM_000268.4(NF2):c.447+3A>G
NM_000268.4(NF2):c.448-1G>T
NM_000268.4(NF2):c.448-4C>G rs760733256
NM_000268.4(NF2):c.448-5T>C rs878853928
NM_000268.4(NF2):c.453T>G (p.Gly151=) rs2146966325
NM_000268.4(NF2):c.454G>A (p.Asp152Asn)
NM_000268.4(NF2):c.460G>A (p.Asp154Asn)
NM_000268.4(NF2):c.462C>A (p.Asp154Glu)
NM_000268.4(NF2):c.465dup (p.Ser156fs)
NM_000268.4(NF2):c.467G>A (p.Ser156Asn) rs2146966627
NM_000268.4(NF2):c.468T>C (p.Ser156=)
NM_000268.4(NF2):c.477G>T (p.Lys159Asn)
NM_000268.4(NF2):c.478C>A (p.Arg160=)
NM_000268.4(NF2):c.479G>A (p.Arg160Gln) rs867595517
NM_000268.4(NF2):c.492C>T (p.Ala164=) rs1307586355
NM_000268.4(NF2):c.493del (p.Gln165fs)
NM_000268.4(NF2):c.497A>T (p.Glu166Val) rs779353677
NM_000268.4(NF2):c.498G>A (p.Glu166=)
NM_000268.4(NF2):c.499G>C (p.Glu167Gln) rs2066248439
NM_000268.4(NF2):c.49A>C (p.Lys17Gln) rs1006592023
NM_000268.4(NF2):c.501A>G (p.Glu167=) rs1480981635
NM_000268.4(NF2):c.504G>A (p.Leu168=) rs182990439
NM_000268.4(NF2):c.50A>G (p.Lys17Arg) rs2064714998
NM_000268.4(NF2):c.515G>T (p.Arg172Met)
NM_000268.4(NF2):c.516+1G>T rs1601612044
NM_000268.4(NF2):c.516G>T (p.Arg172Ser)
NM_000268.4(NF2):c.517-5G>A rs2146971836
NM_000268.4(NF2):c.525T>A (p.Asn175Lys) rs1601613495
NM_000268.4(NF2):c.531T>G (p.Tyr177Ter)
NM_000268.4(NF2):c.541C>G (p.Pro181Ala)
NM_000268.4(NF2):c.545A>G (p.Glu182Gly) rs2066279652
NM_000268.4(NF2):c.546A>G (p.Glu182=) rs1202105168
NM_000268.4(NF2):c.547A>T (p.Met183Leu)
NM_000268.4(NF2):c.555G>A (p.Glu185=) rs1293410909
NM_000268.4(NF2):c.558G>A (p.Glu186=)
NM_000268.4(NF2):c.55C>T (p.Pro19Ser) rs1477242482
NM_000268.4(NF2):c.560G>A (p.Arg187Lys) rs1234052589
NM_000268.4(NF2):c.560G>T (p.Arg187Ile)
NM_000268.4(NF2):c.56C>G (p.Pro19Arg) rs1601515928
NM_000268.4(NF2):c.576C>A (p.Tyr192Ter)
NM_000268.4(NF2):c.578C>G (p.Ala193Gly)
NM_000268.4(NF2):c.578C>T (p.Ala193Val)
NM_000268.4(NF2):c.579A>G (p.Ala193=) rs1332985565
NM_000268.4(NF2):c.582G>A (p.Glu194=)
NM_000268.4(NF2):c.582G>C (p.Glu194Asp)
NM_000268.4(NF2):c.583C>T (p.His195Tyr)
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.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.594A>T (p.Arg198=)
NM_000268.4(NF2):c.597C>T (p.Ala199=)
NM_000268.4(NF2):c.599+1G>A rs1555993352
NM_000268.4(NF2):c.599+1G>T rs1555993352
NM_000268.4(NF2):c.599+5G>A rs1601613749
NM_000268.4(NF2):c.59A>C (p.Lys20Thr)
NM_000268.4(NF2):c.600G>A (p.Arg200=) rs1156687503
NM_000268.4(NF2):c.602A>G (p.Asp201Gly) rs1601618525
NM_000268.4(NF2):c.610G>C (p.Glu204Gln) rs1569295916
NM_000268.4(NF2):c.610G>T (p.Glu204Ter)
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.638A>G (p.Asp213Gly)
NM_000268.4(NF2):c.63G>T (p.Thr21=)
NM_000268.4(NF2):c.641T>A (p.Leu214Gln)
NM_000268.4(NF2):c.642G>A (p.Leu214=)
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.663C>G (p.Tyr221Ter) rs2146990737
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.674G>C (p.Arg225Pro)
NM_000268.4(NF2):c.676-4A>G rs2147007478
NM_000268.4(NF2):c.676A>C (p.Asn226His) rs886057336
NM_000268.4(NF2):c.678T>A (p.Asn226Lys)
NM_000268.4(NF2):c.678T>C (p.Asn226=)
NM_000268.4(NF2):c.685G>A (p.Gly229Ser)
NM_000268.4(NF2):c.691G>C (p.Glu231Gln) rs770019352
NM_000268.4(NF2):c.696G>T (p.Leu232=)
NM_000268.4(NF2):c.698T>C (p.Leu233Pro)
NM_000268.4(NF2):c.699G>C (p.Leu233=) rs780003734
NM_000268.4(NF2):c.69C>T (p.Thr23=) rs2064716137
NM_000268.4(NF2):c.712G>T (p.Ala238Ser)
NM_000268.4(NF2):c.719G>A (p.Gly240Glu)
NM_000268.4(NF2):c.720G>A (p.Gly240=)
NM_000268.4(NF2):c.721C>A (p.Leu241Ile)
NM_000268.4(NF2):c.727A>G (p.Ile243Val)
NM_000268.4(NF2):c.730T>C (p.Tyr244His)
NM_000268.4(NF2):c.733G>A (p.Asp245Asn) rs2066468835
NM_000268.4(NF2):c.733G>T (p.Asp245Tyr)
NM_000268.4(NF2):c.734A>G (p.Asp245Gly)
NM_000268.4(NF2):c.735C>T (p.Asp245=)
NM_000268.4(NF2):c.738T>A (p.Pro246=)
NM_000268.4(NF2):c.740A>G (p.Glu247Gly)
NM_000268.4(NF2):c.745A>T (p.Arg249Ter)
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>T (p.Pro252Ser)
NM_000268.4(NF2):c.759G>A (p.Lys253=) rs760272926
NM_000268.4(NF2):c.764_766del (p.Ser255del)
NM_000268.4(NF2):c.766T>C (p.Phe256Leu) rs1474769404
NM_000268.4(NF2):c.766T>G (p.Phe256Val)
NM_000268.4(NF2):c.76A>T (p.Ile26Phe)
NM_000268.4(NF2):c.770C>G (p.Pro257Arg) rs753300935
NM_000268.4(NF2):c.771G>C (p.Pro257=)
NM_000268.4(NF2):c.783C>A (p.Ile261=)
NM_000268.4(NF2):c.783C>G (p.Ile261Met)
NM_000268.4(NF2):c.786A>G (p.Arg262=)
NM_000268.4(NF2):c.789C>T (p.Asn263=) rs1555996218
NM_000268.4(NF2):c.78C>T (p.Ile26=) rs2064716954
NM_000268.4(NF2):c.792C>T (p.Ile264=)
NM_000268.4(NF2):c.794C>T (p.Ser265Leu) rs1601624241
NM_000268.4(NF2):c.805A>G (p.Lys269Glu)
NM_000268.4(NF2):c.807G>A (p.Lys269=) rs2147011393
NM_000268.4(NF2):c.810+1G>A rs794728682
NM_000268.4(NF2):c.813T>C (p.Phe271=)
NM_000268.4(NF2):c.815C>T (p.Thr272Ile) rs1555997534
NM_000268.4(NF2):c.816T>A (p.Thr272=) rs1555997539
NM_000268.4(NF2):c.817A>G (p.Ile273Val) rs1368184325
NM_000268.4(NF2):c.829G>T (p.Asp277Tyr)
NM_000268.4(NF2):c.831T>G (p.Asp277Glu) rs762883753
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.84C>T (p.Thr28=) rs1410448416
NM_000268.4(NF2):c.855T>C (p.Phe285=)
NM_000268.4(NF2):c.865A>G (p.Lys289Glu)
NM_000268.4(NF2):c.867G>A (p.Lys289=)
NM_000268.4(NF2):c.871C>T (p.Arg291Cys)
NM_000268.4(NF2):c.875T>C (p.Val292Ala)
NM_000268.4(NF2):c.878A>G (p.Asn293Ser)
NM_000268.4(NF2):c.88G>A (p.Asp30Asn) rs1601516058
NM_000268.4(NF2):c.891C>G (p.Leu297=)
NM_000268.4(NF2):c.891C>T (p.Leu297=) rs755253391
NM_000268.4(NF2):c.901A>G (p.Ile301Val)
NM_000268.4(NF2):c.904G>A (p.Gly302Arg) rs1255367068
NM_000268.4(NF2):c.906G>C (p.Gly302=)
NM_000268.4(NF2):c.908A>C (p.Asn303Thr)
NM_000268.4(NF2):c.90C>T (p.Asp30=)
NM_000268.4(NF2):c.915T>C (p.Asp305=) rs1601636823
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.926G>A (p.Arg309Lys)
NM_000268.4(NF2):c.93C>A (p.Ala31=) rs1601516078
NM_000268.4(NF2):c.949G>A (p.Glu317Lys)
NM_000268.4(NF2):c.951A>G (p.Glu317=) rs1601636972
NM_000268.4(NF2):c.953T>G (p.Val318Gly)
NM_000268.4(NF2):c.960G>C (p.Gln320His)
NM_000268.4(NF2):c.961A>C (p.Met321Leu)
NM_000268.4(NF2):c.962T>C (p.Met321Thr) rs2066688680
NM_000268.4(NF2):c.966A>T (p.Lys322Asn)
NM_000268.4(NF2):c.968C>G (p.Ala323Gly)
NM_000268.4(NF2):c.970C>T (p.Gln324Ter)
NM_000268.4(NF2):c.978G>A (p.Arg326=) rs1601637089
NM_000268.4(NF2):c.979G>A (p.Glu327Lys)
NM_000268.4(NF2):c.979G>T (p.Glu327Ter)
NM_000268.4(NF2):c.97A>T (p.Met33Leu)
NM_000268.4(NF2):c.981G>A (p.Glu327=)
NM_000268.4(NF2):c.987G>A (p.Lys329=)
NM_000268.4(NF2):c.988G>A (p.Ala330Thr)
NM_000268.4(NF2):c.991A>C (p.Arg331=)
NM_000268.4(NF2):c.991A>G (p.Arg331Gly) rs2147053223
NM_000268.4(NF2):c.999+5G>A
NM_000268.4(NF2):c.999G>A (p.Gln333=)
NM_000268.4(NF2):c.9G>A (p.Gly3=) rs1280487219
NM_000268.4(NF2):c.9G>C (p.Gly3=) rs1280487219

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