ClinVar Miner

List of variants in gene NF1 studied for RASopathy

Included ClinVar conditions (52):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3121
Download table as spreadsheet
HGVS dbSNP
NC_000017.10:g.(?_29422322)_(29497021_?)dup
NC_000017.10:g.(?_29422322)_(29592363_?)dup
NC_000017.10:g.(?_29486022)_(29533395_?)del
NC_000017.10:g.(?_29490204)_(29490394_?)del
NC_000017.10:g.(?_29490204)_(29497015_?)del
NC_000017.10:g.(?_29508434)_(29509689_?)del
NC_000017.10:g.(?_29527420)_(29592377_?)del
NC_000017.10:g.(?_29527430)_(29533399_?)del
NC_000017.10:g.(?_29527430)_(29592367_?)del
NC_000017.10:g.(?_29527434)_(29533395_?)del
NC_000017.10:g.(?_29527440)_(29592357_?)del
NC_000017.10:g.(?_29540877)_(29563299_?)dup
NC_000017.10:g.(?_29546017)_(29585526_?)dup
NC_000017.10:g.(?_29556843)_(29592367_?)del
NC_000017.10:g.(?_29559081)_(29576147_?)del
NC_000017.10:g.(?_29575992)_(29576147_?)dup
NC_000017.10:g.(?_29587367)_(29592377_?)dup
NC_000017.10:g.(?_29652828)_(29657526_?)dup
NC_000017.10:g.(?_29652832)_(29665163_?)del
NC_000017.10:g.(?_29654517)_(29654857_?)del
NC_000017.10:g.(?_29661846)_(29662059_?)del
NC_000017.10:g.(?_29661850)_(29662055_?)del
NC_000017.10:g.(?_29670027)_(29670153_?)del
NC_000017.10:g.(?_29701011)_(29701193_?)dup
NC_000017.10:g.(?_29701021)_(29701183_?)dup
NC_000017.10:g.(?_29701025)_(29701178_?)dup
NC_000017.10:g.(?_29701031)_(29704695_?)dup
NC_000017.11:g.31181425C>G
NF1, 1-BP DEL, 4071C
NF1, 42-BP DUP
NF1, 5-BP DEL
NF1, 80-KB DEL
NF1, ALU INS
NF1, DEL
NG_009018.1(NF1):g.[134769_136954del2186;136931_139830del2900]
NM_000267.3(NF1):c.*1164G>A rs140110377
NM_000267.3(NF1):c.*1202A>C rs886052807
NM_000267.3(NF1):c.*125del rs397754615
NM_000267.3(NF1):c.*1425C>T rs886052808
NM_000267.3(NF1):c.*1446T>C rs886052809
NM_000267.3(NF1):c.*1899A>G rs547663480
NM_000267.3(NF1):c.*1987C>T rs886052810
NM_000267.3(NF1):c.*2071G>A rs886052811
NM_000267.3(NF1):c.*2089G>A rs17881973
NM_000267.3(NF1):c.*2132T>C rs551806545
NM_000267.3(NF1):c.*2201G>A rs7406983
NM_000267.3(NF1):c.*2215_*2219del rs201032889
NM_000267.3(NF1):c.*2265C>G rs1800845
NM_000267.3(NF1):c.*2566C>T rs545937364
NM_000267.3(NF1):c.*2638_*2646delinsTTATG rs886052813
NM_000267.3(NF1):c.*2777C>A rs185015732
NM_000267.3(NF1):c.*2829T>C rs1048317
NM_000267.3(NF1):c.*2884T>A rs886052814
NM_000267.3(NF1):c.*3091A>C rs570154156
NM_000267.3(NF1):c.*3174A>C rs886052815
NM_000267.3(NF1):c.*3248G>A rs527971565
NM_000267.3(NF1):c.*3266G>A rs548117626
NM_000267.3(NF1):c.*3514G>C rs574282086
NM_000267.3(NF1):c.*498T>G rs9900729
NM_000267.3(NF1):c.*4T>C rs201044568
NM_000267.3(NF1):c.*506T>A rs886052804
NM_000267.3(NF1):c.*584G>T rs190144445
NM_000267.3(NF1):c.*859_*860AT[7] rs369548314
NM_000267.3(NF1):c.*859_*860AT[9] rs369548314
NM_000267.3(NF1):c.*871A>T rs568276164
NM_000267.3(NF1):c.*871delA rs759306393
NM_000267.3(NF1):c.*873A>T rs3058624
NM_000267.3(NF1):c.*875T>A rs886052806
NM_000267.3(NF1):c.1004A>G (p.Asn335Ser) rs758212945
NM_000267.3(NF1):c.1005T>C (p.Asn335=) rs777369021
NM_000267.3(NF1):c.100G>A (p.Val34Ile) rs772995929
NM_000267.3(NF1):c.1013A>G (p.Asp338Gly) rs199474773
NM_000267.3(NF1):c.1017_1018CT[1] (p.Ser340fs) rs1555610903
NM_000267.3(NF1):c.1019C>G (p.Ser340Cys) rs771089333
NM_000267.3(NF1):c.1020dup (p.Val341fs) rs1555610905
NM_000267.3(NF1):c.1021G>A (p.Val341Ile) rs1555610907
NM_000267.3(NF1):c.102C>T (p.Val34=) rs760823948
NM_000267.3(NF1):c.1032A>G (p.Leu344=) rs199832006
NM_000267.3(NF1):c.1041_1045del (p.Gln347fs) rs1135402800
NM_000267.3(NF1):c.1042T>C (p.Ser348Pro) rs864622064
NM_000267.3(NF1):c.1045A>G (p.Met349Val) rs776050648
NM_000267.3(NF1):c.1048G>A (p.Val350Met) rs1185636269
NM_000267.3(NF1):c.104G>A (p.Ser35Asn) rs1060500282
NM_000267.3(NF1):c.1052T>A (p.Val351Asp) rs878853861
NM_000267.3(NF1):c.1059del (p.Lys354fs) rs863224488
NM_000267.3(NF1):c.105T>C (p.Ser35=) rs370026303
NM_000267.3(NF1):c.1061A>C (p.Lys354Thr)
NM_000267.3(NF1):c.1061A>G (p.Lys354Arg) rs1135402801
NM_000267.3(NF1):c.1062+1G>A
NM_000267.3(NF1):c.1062+3A>G rs1057521098
NM_000267.3(NF1):c.1062+5C>T rs1555610916
NM_000267.3(NF1):c.1062+6A>G rs1060500291
NM_000267.3(NF1):c.1062+7T>C rs979521240
NM_000267.3(NF1):c.1063-13G>A rs1131691066
NM_000267.3(NF1):c.1063-1G>C rs1555610955
NM_000267.3(NF1):c.1063-2A>G rs1060500358
NM_000267.3(NF1):c.1066del (p.Leu356fs)
NM_000267.3(NF1):c.1069C>G (p.Leu357Val) rs1567835662
NM_000267.3(NF1):c.1070T>C (p.Leu357Pro) rs137854563
NM_000267.3(NF1):c.1070T>G (p.Leu357Arg) rs137854563
NM_000267.3(NF1):c.1073_1074insA (p.Phe358fs) rs1555610971
NM_000267.3(NF1):c.1077del (p.Pro360fs) rs1555610972
NM_000267.3(NF1):c.1078C>T (p.Pro360Ser)
NM_000267.3(NF1):c.107C>G (p.Thr36Ser) rs199966218
NM_000267.3(NF1):c.1082G>C (p.Ser361Thr) rs876660103
NM_000267.3(NF1):c.1089A>G (p.Pro363=) rs757508086
NM_000267.3(NF1):c.1094C>A (p.Ser365Ter) rs864622107
NM_000267.3(NF1):c.1094C>G (p.Ser365Ter) rs864622107
NM_000267.3(NF1):c.1095_1096del (p.Gly367fs)
NM_000267.3(NF1):c.1104_1107del (p.Gln369fs) rs1555610984
NM_000267.3(NF1):c.1108C>T (p.Pro370Ser) rs878853862
NM_000267.3(NF1):c.1112C>T (p.Ala371Val)
NM_000267.3(NF1):c.1113A>C (p.Ala371=) rs786201652
NM_000267.3(NF1):c.1118T>C (p.Val373Ala)
NM_000267.3(NF1):c.111G>A (p.Glu37=) rs1555604893
NM_000267.3(NF1):c.1120G>A (p.Asp374Asn) rs876658666
NM_000267.3(NF1):c.1130T>C (p.Ile377Thr) rs878853863
NM_000267.3(NF1):c.1131T>C (p.Ile377=) rs1555610993
NM_000267.3(NF1):c.1134C>G (p.Asp378Glu)
NM_000267.3(NF1):c.1135T>C (p.Cys379Arg) rs1060500281
NM_000267.3(NF1):c.1137C>T (p.Cys379=) rs139648455
NM_000267.3(NF1):c.1138C>T (p.Leu380Phe) rs1426127948
NM_000267.3(NF1):c.1139T>C (p.Leu380Pro) rs1555611004
NM_000267.3(NF1):c.1144del (p.Ser382fs) rs1135402802
NM_000267.3(NF1):c.1145C>T (p.Ser382Phe) rs1555611016
NM_000267.3(NF1):c.1148G>T (p.Cys383Phe)
NM_000267.3(NF1):c.1152del (p.Arg385fs) rs1135402803
NM_000267.3(NF1):c.1153C>T (p.Arg385Cys) rs1322986962
NM_000267.3(NF1):c.1154G>A (p.Arg385His) rs1350329837
NM_000267.3(NF1):c.1166A>G (p.His389Arg) rs149739570
NM_000267.3(NF1):c.116A>T (p.Asn39Ile) rs1567814494
NM_000267.3(NF1):c.1170C>T (p.Asn390=) rs769004910
NM_000267.3(NF1):c.1173C>T (p.Asn391=) rs367986994
NM_000267.3(NF1):c.1174C>T (p.Gln392Ter)
NM_000267.3(NF1):c.1176A>G (p.Gln392=) rs566220983
NM_000267.3(NF1):c.1182T>C (p.Phe394=) rs786202581
NM_000267.3(NF1):c.1183_1185+2delAAGGT rs1555611039
NM_000267.3(NF1):c.1185+1G>A rs864622161
NM_000267.3(NF1):c.1185+5G>C
NM_000267.3(NF1):c.1185+7G>A rs1322791959
NM_000267.3(NF1):c.1185+7G>C rs1322791959
NM_000267.3(NF1):c.1185G>A (p.Lys395=) rs1567835847
NM_000267.3(NF1):c.1186-1G>C rs876660782
NM_000267.3(NF1):c.1186-4A>G rs769295150
NM_000267.3(NF1):c.1186-6C>T rs200684215
NM_000267.3(NF1):c.1186A>C (p.Ile396Leu) rs1413735911
NM_000267.3(NF1):c.1213A>G (p.Thr405Ala) rs587782233
NM_000267.3(NF1):c.1218del (p.His407fs) rs1131691106
NM_000267.3(NF1):c.1219C>T (p.His407Tyr)
NM_000267.3(NF1):c.1229T>G (p.Leu410Arg) rs1376759287
NM_000267.3(NF1):c.122A>C (p.Glu41Ala) rs786203038
NM_000267.3(NF1):c.1237T>C (p.Ser413Pro) rs1555611093
NM_000267.3(NF1):c.1238C>A (p.Ser413Ter)
NM_000267.3(NF1):c.1238C>G (p.Ser413Ter) rs1241533665
NM_000267.3(NF1):c.1243C>T (p.His415Tyr) rs1415155749
NM_000267.3(NF1):c.1244A>G (p.His415Arg) rs1555611097
NM_000267.3(NF1):c.1245del (p.Arg416fs) rs1555611098
NM_000267.3(NF1):c.1246C>T (p.Arg416Ter) rs764079291
NM_000267.3(NF1):c.1247G>A (p.Arg416Gln) rs1343309278
NM_000267.3(NF1):c.1248A>T (p.Arg416=) rs1403345664
NM_000267.3(NF1):c.1259A>G (p.Asn420Ser) rs1555611107
NM_000267.3(NF1):c.125_126dup (p.Leu43fs) rs1555604897
NM_000267.3(NF1):c.1260+1604A>G rs1131691067
NM_000267.3(NF1):c.1260+1G>A rs267606603
NM_000267.3(NF1):c.1260+1G>T
NM_000267.3(NF1):c.1260+220_7553-1095del
NM_000267.3(NF1):c.1260+2T>G rs1555611110
NM_000267.3(NF1):c.1260+2dup
NM_000267.3(NF1):c.1260+5G>A
NM_000267.3(NF1):c.1260+5G>C rs1060500253
NM_000267.3(NF1):c.1260+6T>C rs1555611111
NM_000267.3(NF1):c.1260+6T>G rs1555611111
NM_000267.3(NF1):c.1260+9A>G rs1060503908
NM_000267.3(NF1):c.1261-3T>A rs761761583
NM_000267.3(NF1):c.1261T>G (p.Ser421Ala) rs878853864
NM_000267.3(NF1):c.1263C>T (p.Ser421=) rs767410768
NM_000267.3(NF1):c.1264G>A (p.Ala422Thr) rs786202145
NM_000267.3(NF1):c.1274G>C (p.Trp425Ser)
NM_000267.3(NF1):c.127C>T (p.Leu43=) rs1060503913
NM_000267.3(NF1):c.1280C>T (p.Pro427Leu)
NM_000267.3(NF1):c.1280_1292del (p.Pro427fs) rs1135402804
NM_000267.3(NF1):c.128T>C (p.Leu43Pro) rs1555604899
NM_000267.3(NF1):c.1296G>A (p.Val432=) rs371599283
NM_000267.3(NF1):c.1299T>G (p.Tyr433Ter) rs876660099
NM_000267.3(NF1):c.129A>C (p.Leu43=) rs759576680
NM_000267.3(NF1):c.129_130ins568 (p.?)
NM_000267.3(NF1):c.129_131del (p.Ile44del)
NM_000267.3(NF1):c.1304A>G (p.His435Arg) rs1555611571
NM_000267.3(NF1):c.1307C>T (p.Ser436Leu)
NM_000267.3(NF1):c.1308G>A (p.Ser436=) rs765425127
NM_000267.3(NF1):c.1309G>T (p.Val437Phe) rs1555611574
NM_000267.3(NF1):c.1310T>A (p.Val437Asp) rs876658642
NM_000267.3(NF1):c.1310T>C (p.Val437Ala) rs876658642
NM_000267.3(NF1):c.1318C>T (p.Arg440Ter) rs778405030
NM_000267.3(NF1):c.1319G>A (p.Arg440Gln) rs1466678870
NM_000267.3(NF1):c.1322_1323AT[1] (p.Met442fs) rs1135402805
NM_000267.3(NF1):c.1328T>C (p.Phe443Ser) rs1555611581
NM_000267.3(NF1):c.1330G>C (p.Gly444Arg) rs1162173842
NM_000267.3(NF1):c.1331G>A (p.Gly444Asp) rs1555611582
NM_000267.3(NF1):c.1331del (p.Gly444fs) rs1567838293
NM_000267.3(NF1):c.1340T>C (p.Leu447Pro)
NM_000267.3(NF1):c.1343dup (p.His448fs) rs1555611584
NM_000267.3(NF1):c.1344dup (p.Lys449Ter) rs1567838311
NM_000267.3(NF1):c.134A>G (p.Asn45Ser) rs753189381
NM_000267.3(NF1):c.1352T>G (p.Val451Gly)
NM_000267.3(NF1):c.1354C>T (p.Gln452Ter) rs1555611590
NM_000267.3(NF1):c.1356A>G (p.Gln452=) rs1324833228
NM_000267.3(NF1):c.1357G>A (p.Gly453Ser) rs1273060925
NM_000267.3(NF1):c.1358G>T (p.Gly453Val) rs876660915
NM_000267.3(NF1):c.1359T>C (p.Gly453=) rs1555611595
NM_000267.3(NF1):c.1369C>T (p.His457Tyr) rs757560526
NM_000267.3(NF1):c.1370A>T (p.His457Leu) rs786202763
NM_000267.3(NF1):c.1370_1372del (p.His457del) rs1567838357
NM_000267.3(NF1):c.1371C>T (p.His457=) rs1318894606
NM_000267.3(NF1):c.1372C>G (p.Pro458Ala)
NM_000267.3(NF1):c.1374A>G (p.Pro458=) rs1555611601
NM_000267.3(NF1):c.1374dup (p.Ala459fs) rs1135402806
NM_000267.3(NF1):c.1379T>C (p.Ile460Thr)
NM_000267.3(NF1):c.1381C>T (p.Arg461Ter) rs878853865
NM_000267.3(NF1):c.1382G>A (p.Arg461Gln) rs1555611606
NM_000267.3(NF1):c.1389A>G (p.Ala463=) rs1131923
NM_000267.3(NF1):c.1391C>T (p.Pro464Leu) rs1269425503
NM_000267.3(NF1):c.1392+10A>G rs1060503886
NM_000267.3(NF1):c.1392+1G>A rs267604791
NM_000267.3(NF1):c.1392+1G>C
NM_000267.3(NF1):c.1392+1delG rs1060500347
NM_000267.3(NF1):c.1392+2T>C rs1555611610
NM_000267.3(NF1):c.1392+5G>A rs199999754
NM_000267.3(NF1):c.1392+5_1392+6delinsTT rs587782851
NM_000267.3(NF1):c.1392+7T>C rs773017698
NM_000267.3(NF1):c.1392G>A (p.Pro464=) rs201604273
NM_000267.3(NF1):c.1392G>T (p.Pro464=) rs201604273
NM_000267.3(NF1):c.1393-1905_2251+85dup
NM_000267.3(NF1):c.1393-1G>A
NM_000267.3(NF1):c.1393-1G>C rs1131691131
NM_000267.3(NF1):c.1393-1G>T rs1131691131
NM_000267.3(NF1):c.1393-2488_1642-648delinsAATAG
NM_000267.3(NF1):c.1393-2652_1528-892del
NM_000267.3(NF1):c.1393-2A>G rs1555612266
NM_000267.3(NF1):c.1393-2A>T rs1555612266
NM_000267.3(NF1):c.1393-2dup rs1394021280
NM_000267.3(NF1):c.1393-3329_3975-6377del
NM_000267.3(NF1):c.1393-9T>C rs1314978150
NM_000267.3(NF1):c.1393_1394delAG
NM_000267.3(NF1):c.1400_1415del (p.Thr467fs) rs1555612270
NM_000267.3(NF1):c.1400del (p.Thr467fs) rs1135402808
NM_000267.3(NF1):c.1405A>G (p.Lys469Glu) rs1555612271
NM_000267.3(NF1):c.1410A>C (p.Glu470Asp) rs786203090
NM_000267.3(NF1):c.1413_1414delinsT (p.Lys471fs) rs1555612273
NM_000267.3(NF1):c.1414_1440dup (p.Val472_Lys480dup)
NM_000267.3(NF1):c.1423dup (p.Leu475fs) rs1555612274
NM_000267.3(NF1):c.1431T>C (p.Phe477=) rs1555612278
NM_000267.3(NF1):c.143A>C (p.Lys48Thr) rs1555604902
NM_000267.3(NF1):c.1444A>G (p.Thr482Ala) rs770201871
NM_000267.3(NF1):c.144A>G (p.Lys48=) rs763375105
NM_000267.3(NF1):c.1450C>T (p.Leu484=) rs876657544
NM_000267.3(NF1):c.1456A>T (p.Thr486Ser) rs1060500305
NM_000267.3(NF1):c.1457C>T (p.Thr486Ile)
NM_000267.3(NF1):c.1458A>G (p.Thr486=) rs878853866
NM_000267.3(NF1):c.145T>A (p.Tyr49Asn) rs764367878
NM_000267.3(NF1):c.1460G>A (p.Arg487Lys) rs1135402809
NM_000267.3(NF1):c.1462del (p.Ser488fs) rs1135402810
NM_000267.3(NF1):c.1466A>G (p.Tyr489Cys) rs137854557
NM_000267.3(NF1):c.1469A>G (p.Lys490Arg) rs1060500260
NM_000267.3(NF1):c.1469_1470insTTAT (p.Lys490fs) rs1060500307
NM_000267.3(NF1):c.1469_1472del (p.Lys490fs) rs1135402811
NM_000267.3(NF1):c.1472A>G (p.Tyr491Cys) rs199474757
NM_000267.3(NF1):c.1477C>G (p.Leu493Val) rs1135402812
NM_000267.3(NF1):c.1479C>G (p.Leu493=) rs139653388
NM_000267.3(NF1):c.1480T>A (p.Leu494Met) rs878853867
NM_000267.3(NF1):c.1490del (p.Val497fs) rs1555612286
NM_000267.3(NF1):c.1496T>C (p.Leu499Pro) rs1555612288
NM_000267.3(NF1):c.1496T>G (p.Leu499Arg) rs1555612288
NM_000267.3(NF1):c.1510C>A (p.Pro504Thr)
NM_000267.3(NF1):c.1514del (p.Lys505fs) rs1555612289
NM_000267.3(NF1):c.1522C>T (p.Leu508Phe)
NM_000267.3(NF1):c.1523T>C (p.Leu508Pro) rs137854558
NM_000267.3(NF1):c.1525del (p.Cys509fs) rs1135402813
NM_000267.3(NF1):c.1525dup (p.Cys509fs) rs1135402813
NM_000267.3(NF1):c.1527+1159C>T rs878853868
NM_000267.3(NF1):c.1527+1509_1641+1137del
NM_000267.3(NF1):c.1527+1G>A rs1060500331
NM_000267.3(NF1):c.1527+1G>C rs1060500331
NM_000267.3(NF1):c.1527+1G>T rs1060500331
NM_000267.3(NF1):c.1527+2T>C rs1064796700
NM_000267.3(NF1):c.1527+2dup
NM_000267.3(NF1):c.1527+443_3709-761dup
NM_000267.3(NF1):c.1527+4_1527+7delAGTA rs1555612294
NM_000267.3(NF1):c.1527+5G>A rs1060500352
NM_000267.3(NF1):c.1527+5G>C rs1060500352
NM_000267.3(NF1):c.1527+7A>T rs1555612295
NM_000267.3(NF1):c.1528-10T>C rs376174484
NM_000267.3(NF1):c.1528-3C>T rs1060500294
NM_000267.3(NF1):c.1528-960_1761del
NM_000267.3(NF1):c.1528-9T>C rs1060503916
NM_000267.3(NF1):c.1529A>C (p.Asn510Thr)
NM_000267.3(NF1):c.153T>C (p.Phe51=) rs1057523892
NM_000267.3(NF1):c.1540C>T (p.Gln514Ter) rs1316926587
NM_000267.3(NF1):c.1541A>C (p.Gln514Pro) rs775369084
NM_000267.3(NF1):c.1541_1542del (p.Gln514fs) rs267606600
NM_000267.3(NF1):c.1541del (p.Gln514fs) rs1555612815
NM_000267.3(NF1):c.1545G>T (p.Gly515=) rs876658203
NM_000267.3(NF1):c.1548C>G (p.Pro516=) rs768883989
NM_000267.3(NF1):c.1548C>T (p.Pro516=) rs768883989
NM_000267.3(NF1):c.1549G>A (p.Glu517Lys) rs587778548
NM_000267.3(NF1):c.1549G>T (p.Glu517Ter) rs587778548
NM_000267.3(NF1):c.1553C>T (p.Thr518Ile) rs587782696
NM_000267.3(NF1):c.1554C>A (p.Thr518=) rs876660849
NM_000267.3(NF1):c.1561del (p.Ser521fs) rs1135402814
NM_000267.3(NF1):c.1569A>G (p.Ala523=) rs1555612830
NM_000267.3(NF1):c.1570G>T (p.Glu524Ter) rs1135402815
NM_000267.3(NF1):c.1579A>T (p.Thr527Ser) rs1567843874
NM_000267.3(NF1):c.1581A>C (p.Thr527=) rs1060503907
NM_000267.3(NF1):c.1585C>T (p.Leu529Phe) rs1135402816
NM_000267.3(NF1):c.1587C>T (p.Leu529=) rs786203041
NM_000267.3(NF1):c.1588G>A (p.Val530Ile) rs145191978
NM_000267.3(NF1):c.1593A>C (p.Gln531His) rs773712266
NM_000267.3(NF1):c.1593A>G (p.Gln531=) rs773712266
NM_000267.3(NF1):c.1595T>C (p.Leu532Pro) rs199474737
NM_000267.3(NF1):c.1595T>G (p.Leu532Arg) rs199474737
NM_000267.3(NF1):c.1598T>G (p.Val533Gly) rs1555612857
NM_000267.3(NF1):c.1599C>G (p.Val533=) rs369458366
NM_000267.3(NF1):c.1600C>T (p.Pro534Ser) rs1555612858
NM_000267.3(NF1):c.1603C>T (p.Gln535Ter) rs1567843917
NM_000267.3(NF1):c.1607C>A (p.Ser536Ter) rs1555612859
NM_000267.3(NF1):c.1607C>G (p.Ser536Ter) rs1555612859
NM_000267.3(NF1):c.1609C>T (p.His537Tyr) rs786203860
NM_000267.3(NF1):c.160G>T (p.Val54Phe) rs1060500330
NM_000267.3(NF1):c.1613del (p.Met538fs) rs1135402817
NM_000267.3(NF1):c.1615C>G (p.Pro539Ala) rs1060500366
NM_000267.3(NF1):c.1618G>T (p.Glu540Ter) rs1567843930
NM_000267.3(NF1):c.1619del (p.Glu540fs) rs1567843934
NM_000267.3(NF1):c.1620G>T (p.Glu540Asp) rs766748586
NM_000267.3(NF1):c.1627C>T (p.Gln543Ter) rs894292181
NM_000267.3(NF1):c.1641+156_3975-2222del
NM_000267.3(NF1):c.1641+1G>A rs1555612866
NM_000267.3(NF1):c.1641+2T>C rs1555612867
NM_000267.3(NF1):c.1641+2del rs1135402818
NM_000267.3(NF1):c.1641+3A>G rs754159326
NM_000267.3(NF1):c.1641+7G>C rs1060503887
NM_000267.3(NF1):c.1641+8G>C rs758022528
NM_000267.3(NF1):c.1642-1G>A rs1555613185
NM_000267.3(NF1):c.1642-2A>T
NM_000267.3(NF1):c.1642-3C>G
NM_000267.3(NF1):c.1642-449A>G rs863224655
NM_000267.3(NF1):c.1642-8A>G rs267606602
NM_000267.3(NF1):c.1642-9A>G
NM_000267.3(NF1):c.1643C>T (p.Ala548Val) rs1567844997
NM_000267.3(NF1):c.1646T>C (p.Leu549Pro) rs199474758
NM_000267.3(NF1):c.1649T>C (p.Leu550Pro) rs886052798
NM_000267.3(NF1):c.1650G>C (p.Leu550=) rs1555613190
NM_000267.3(NF1):c.1653T>A (p.Val551=) rs1060503902
NM_000267.3(NF1):c.1655T>G (p.Leu552Arg) rs1555613193
NM_000267.3(NF1):c.1658A>G (p.His553Arg) rs1064794274
NM_000267.3(NF1):c.1660C>T (p.Gln554Ter) rs953440640
NM_000267.3(NF1):c.1661A>G (p.Gln554Arg) rs863224656
NM_000267.3(NF1):c.1662G>T (p.Gln554His) rs147594815
NM_000267.3(NF1):c.1667_1670del (p.Asp556fs) rs1135402819
NM_000267.3(NF1):c.1670G>A (p.Ser557Asn) rs1567845046
NM_000267.3(NF1):c.1677T>C (p.Asp559=) rs1209447028
NM_000267.3(NF1):c.1680del (p.Leu560fs) rs1567845069
NM_000267.3(NF1):c.1683G>A (p.Trp561Ter) rs1135402820
NM_000267.3(NF1):c.168C>T (p.Ser56=) rs17881168
NM_000267.3(NF1):c.1692T>G (p.Asp564Glu)
NM_000267.3(NF1):c.1699G>A (p.Val567Ile) rs1555613200
NM_000267.3(NF1):c.169G>A (p.Gly57Ser) rs779727341
NM_000267.3(NF1):c.1701A>G (p.Val567=) rs786203819
NM_000267.3(NF1):c.1703A>G (p.Glu568Gly)
NM_000267.3(NF1):c.1707A>G (p.Thr569=) rs1060503898
NM_000267.3(NF1):c.170G>A (p.Gly57Asp) rs1555604925
NM_000267.3(NF1):c.1713G>A (p.Trp571Ter) rs863224489
NM_000267.3(NF1):c.1714_1721+5del rs1135402821
NM_000267.3(NF1):c.1714del (p.Glu572fs) rs876660135
NM_000267.3(NF1):c.1717A>G (p.Ile573Val)
NM_000267.3(NF1):c.171C>A (p.Gly57=) rs876658709
NM_000267.3(NF1):c.171C>T (p.Gly57=) rs876658709
NM_000267.3(NF1):c.1721+1G>A rs1131691096
NM_000267.3(NF1):c.1721+1G>T rs1131691096
NM_000267.3(NF1):c.1721+2T>G rs1567845116
NM_000267.3(NF1):c.1721+3A>G rs1057518904
NM_000267.3(NF1):c.1721G>A (p.Ser574Asn) rs1555613206
NM_000267.3(NF1):c.1722-2A>G rs763983337
NM_000267.3(NF1):c.1722-6C>G rs878853869
NM_000267.3(NF1):c.1722-6C>T rs878853869
NM_000267.3(NF1):c.1722-9T>G rs1567845805
NM_000267.3(NF1):c.1724C>G (p.Ser575Ter)
NM_000267.3(NF1):c.1726C>T (p.Gln576Ter) rs1060500278
NM_000267.3(NF1):c.1738dup (p.Tyr580fs) rs786204255
NM_000267.3(NF1):c.173T>C (p.Leu58Pro)
NM_000267.3(NF1):c.1744T>G (p.Cys582Gly)
NM_000267.3(NF1):c.1748A>G (p.Lys583Arg) rs199474760
NM_000267.3(NF1):c.1751A>T (p.Lys584Ile) rs1567845855
NM_000267.3(NF1):c.1756A>G (p.Thr586Ala)
NM_000267.3(NF1):c.1756_1759del (p.Thr586fs) rs786202782
NM_000267.3(NF1):c.1759A>C (p.Ser587Arg)
NM_000267.3(NF1):c.175A>G (p.Thr59Ala) rs1567814586
NM_000267.3(NF1):c.1764T>C (p.His588=) rs1229784876
NM_000267.3(NF1):c.1765C>T (p.Gln589Ter) rs1282299543
NM_000267.3(NF1):c.1769T>C (p.Met590Thr) rs761559887
NM_000267.3(NF1):c.1771C>G (p.Leu591Val) rs767247726
NM_000267.3(NF1):c.1775G>A (p.Ser592Asn) rs760256377
NM_000267.3(NF1):c.1780A>G (p.Thr594Ala) rs1555613419
NM_000267.3(NF1):c.1783G>T (p.Glu595Ter)
NM_000267.3(NF1):c.1783_1784del (p.Glu595fs) rs786204059
NM_000267.3(NF1):c.178A>G (p.Thr60Ala) rs546729596
NM_000267.3(NF1):c.1797G>A (p.Trp599Ter) rs1567845906
NM_000267.3(NF1):c.179C>G (p.Thr60Ser) rs1007047958
NM_000267.3(NF1):c.1801C>T (p.Arg601Trp) rs587782592
NM_000267.3(NF1):c.1802G>A (p.Arg601Gln) rs1060500288
NM_000267.3(NF1):c.1804G>C (p.Glu602Gln) rs1060500322
NM_000267.3(NF1):c.1804dup (p.Glu602fs)
NM_000267.3(NF1):c.1806A>G (p.Glu602=) rs370454753
NM_000267.3(NF1):c.1810T>C (p.Leu604=) rs142712751
NM_000267.3(NF1):c.1815del (p.Cys606fs) rs1567845935
NM_000267.3(NF1):c.1818C>A (p.Cys606Ter) rs1567845937
NM_000267.3(NF1):c.181A>G (p.Ile61Val) rs754295034
NM_000267.3(NF1):c.181dup (p.Ile61fs) rs1555604935
NM_000267.3(NF1):c.1826A>G (p.Lys609Arg)
NM_000267.3(NF1):c.1839_1844del (p.Asn614_Lys615del)
NM_000267.3(NF1):c.1845+1G>A rs1567845945
NM_000267.3(NF1):c.1845+1_1845+5del rs1135402822
NM_000267.3(NF1):c.1845+2T>C rs1555613430
NM_000267.3(NF1):c.1845+537_4661+331del
NM_000267.3(NF1):c.1845G>A (p.Lys615=)
NM_000267.3(NF1):c.1845G>T (p.Lys615Asn) rs1131691080
NM_000267.3(NF1):c.1846-2A>G rs1567846609
NM_000267.3(NF1):c.1846-3T>A
NM_000267.3(NF1):c.1846-496_2410-645delinsTAGC
NM_000267.3(NF1):c.1846-5T>C rs1567846600
NM_000267.3(NF1):c.1846-613_4773-1009delinsTTAGGTTTAT
NM_000267.3(NF1):c.1846-8T>A rs886052799
NM_000267.3(NF1):c.1846C>G (p.Gln616Glu) rs1555613543
NM_000267.3(NF1):c.1846C>T (p.Gln616Ter) rs1555613543
NM_000267.3(NF1):c.1849G>A (p.Ala617Thr) rs1131691135
NM_000267.3(NF1):c.1850C>A (p.Ala617Glu)
NM_000267.3(NF1):c.1855A>G (p.Arg619Gly) rs587781821
NM_000267.3(NF1):c.1857_1863del (p.Arg619fs) rs1567846634
NM_000267.3(NF1):c.1861del (p.Ser621fs)
NM_000267.3(NF1):c.1862C>T (p.Ser621Phe) rs760346063
NM_000267.3(NF1):c.1866T>A (p.Cys622Ter) rs753245823
NM_000267.3(NF1):c.1866T>C (p.Cys622=) rs753245823
NM_000267.3(NF1):c.1867C>T (p.His623Tyr) rs759555122
NM_000267.3(NF1):c.1868A>G (p.His623Arg) rs1555613555
NM_000267.3(NF1):c.1869C>T (p.His623=) rs1555613556
NM_000267.3(NF1):c.1870T>C (p.Phe624Leu) rs765060733
NM_000267.3(NF1):c.1871T>C (p.Phe624Ser)
NM_000267.3(NF1):c.1875C>T (p.Leu625=) rs974172157
NM_000267.3(NF1):c.1877T>C (p.Leu626Pro)
NM_000267.3(NF1):c.1882dup (p.Tyr628fs) rs1555613558
NM_000267.3(NF1):c.1883_1885delinsCC (p.Tyr628fs) rs1135402823
NM_000267.3(NF1):c.1884C>A (p.Tyr628Ter) rs555635097
NM_000267.3(NF1):c.1884C>T (p.Tyr628=) rs555635097
NM_000267.3(NF1):c.1885G>A (p.Gly629Arg) rs199474738
NM_000267.3(NF1):c.1886G>T (p.Gly629Val)
NM_000267.3(NF1):c.1887G>A (p.Gly629=) rs1555613561
NM_000267.3(NF1):c.1888G>A (p.Val630Ile) rs751795238
NM_000267.3(NF1):c.1889T>A (p.Val630Glu) rs1135402824
NM_000267.3(NF1):c.188del (p.Lys63fs) rs1555604939
NM_000267.3(NF1):c.1891G>A (p.Gly631Arg) rs757424379
NM_000267.3(NF1):c.1892G>A (p.Gly631Glu) rs876660272
NM_000267.3(NF1):c.1892G>C (p.Gly631Ala)
NM_000267.3(NF1):c.1894T>A (p.Cys632Ser) rs370789267
NM_000267.3(NF1):c.1895G>A (p.Cys632Tyr) rs1567846698
NM_000267.3(NF1):c.1895del (p.Cys632fs)
NM_000267.3(NF1):c.1900A>G (p.Ile634Val) rs745906742
NM_000267.3(NF1):c.1901T>C (p.Ile634Thr) rs527563505
NM_000267.3(NF1):c.1902T>A (p.Ile634=) rs1555613566
NM_000267.3(NF1):c.1907C>A (p.Ser636Tyr)
NM_000267.3(NF1):c.1907C>G (p.Ser636Cys) rs780412565
NM_000267.3(NF1):c.1907C>T (p.Ser636Phe) rs780412565
NM_000267.3(NF1):c.1910G>C (p.Ser637Thr) rs749745247
NM_000267.3(NF1):c.1912G>T (p.Gly638Ter) rs1555613567
NM_000267.3(NF1):c.1916A>G (p.Asn639Ser) rs1060500275
NM_000267.3(NF1):c.1917T>C (p.Asn639=) rs876659976
NM_000267.3(NF1):c.1918dup (p.Thr640fs) rs1135402825
NM_000267.3(NF1):c.1919C>T (p.Thr640Ile)
NM_000267.3(NF1):c.1921A>G (p.Ser641Gly) rs769154907
NM_000267.3(NF1):c.1921A>T (p.Ser641Cys)
NM_000267.3(NF1):c.1933A>G (p.Met645Val) rs146051850
NM_000267.3(NF1):c.1939C>T (p.His647Tyr) rs776251084
NM_000267.3(NF1):c.1944A>G (p.Glu648=) rs1465016257
NM_000267.3(NF1):c.1949T>A (p.Leu650Ter) rs1135402826
NM_000267.3(NF1):c.1953A>G (p.Leu651=) rs1298717179
NM_000267.3(NF1):c.1954C>T (p.Arg652Cys) rs786202436
NM_000267.3(NF1):c.1955G>A (p.Arg652His) rs587778549
NM_000267.3(NF1):c.1957A>G (p.Thr653Ala)
NM_000267.3(NF1):c.1960C>T (p.Pro654Ser) rs765281937
NM_000267.3(NF1):c.1966G>A (p.Ala656Thr) rs1555613598
NM_000267.3(NF1):c.1972C>T (p.Leu658Phe) rs763901597
NM_000267.3(NF1):c.1974C>A (p.Leu658=) rs751318331
NM_000267.3(NF1):c.1975C>T (p.Arg659Trp) rs757512142
NM_000267.3(NF1):c.1976G>A (p.Arg659Gln) rs151138158
NM_000267.3(NF1):c.1984A>T (p.Lys662Ter)
NM_000267.3(NF1):c.1985A>G (p.Lys662Arg) rs578141234
NM_000267.3(NF1):c.1987G>A (p.Gly663Arg) rs140653372
NM_000267.3(NF1):c.1988_2410-218delinsTGTC
NM_000267.3(NF1):c.1991A>G (p.Asn664Ser) rs756145065
NM_000267.3(NF1):c.1994C>T (p.Ser665Phe) rs145891889
NM_000267.3(NF1):c.1999A>G (p.Met667Val) rs749833271
NM_000267.3(NF1):c.2001+7T>C rs878853870
NM_000267.3(NF1):c.2001G>A (p.Met667Ile)
NM_000267.3(NF1):c.2002-1G>A rs1555613743
NM_000267.3(NF1):c.2002-4_2010del rs878853871
NM_000267.3(NF1):c.2002-9G>T rs376197466
NM_000267.3(NF1):c.200A>G (p.Asn67Ser) rs375038808
NM_000267.3(NF1):c.2010A>G (p.Ala670=) rs786202440
NM_000267.3(NF1):c.2010del (p.Ala671fs)
NM_000267.3(NF1):c.2014G>A (p.Gly672Arg) rs786202632
NM_000267.3(NF1):c.2015G>T (p.Gly672Val) rs371817372
NM_000267.3(NF1):c.2018G>A (p.Cys673Tyr) rs878853872
NM_000267.3(NF1):c.2019C>T (p.Cys673=) rs146624509
NM_000267.3(NF1):c.2020A>G (p.Ser674Gly) rs1555613753
NM_000267.3(NF1):c.2022C>T (p.Ser674=) rs2230851
NM_000267.3(NF1):c.2023G>A (p.Gly675Arg) rs779546178
NM_000267.3(NF1):c.2028C>G (p.Thr676=) rs878853873
NM_000267.3(NF1):c.2031C>G (p.Pro677=) rs753177596
NM_000267.3(NF1):c.2032C>A (p.Pro678Thr) rs758691069
NM_000267.3(NF1):c.2032C>G (p.Pro678Ala) rs758691069
NM_000267.3(NF1):c.2032C>T (p.Pro678Ser) rs758691069
NM_000267.3(NF1):c.2033C>T (p.Pro678Leu) rs17881753
NM_000267.3(NF1):c.2033del (p.Pro678fs) rs587781807
NM_000267.3(NF1):c.2033dup (p.Ile679fs) rs587781807
NM_000267.3(NF1):c.2034G>A (p.Pro678=) rs2285892
NM_000267.3(NF1):c.2034del (p.Ile679fs) rs1567847384
NM_000267.3(NF1):c.2034delinsCA (p.Ile679fs) rs1064796331
NM_000267.3(NF1):c.2035dup (p.Ile679fs) rs1555613773
NM_000267.3(NF1):c.2038T>C (p.Cys680Arg) rs1555613775
NM_000267.3(NF1):c.203T>C (p.Met68Thr) rs779063198
NM_000267.3(NF1):c.204+155_2990+53del
NM_000267.3(NF1):c.204+1G>A rs886039548
NM_000267.3(NF1):c.204+1G>T rs886039548
NM_000267.3(NF1):c.204+2T>G
NM_000267.3(NF1):c.204+3_204+6delGAGT rs1567814632
NM_000267.3(NF1):c.204+4delA
NM_000267.3(NF1):c.204+6T>G rs1555604948
NM_000267.3(NF1):c.204+9T>C rs771989896
NM_000267.3(NF1):c.2041C>T (p.Arg681Ter) rs768638173
NM_000267.3(NF1):c.2041del (p.Arg681fs) rs1567847398
NM_000267.3(NF1):c.2042G>A (p.Arg681Gln) rs786201768
NM_000267.3(NF1):c.2045A>C (p.Gln682Pro) rs1304889984
NM_000267.3(NF1):c.2045_2049dup (p.Gln684fs)
NM_000267.3(NF1):c.2048_5041del
NM_000267.3(NF1):c.205-13T>A rs886052797
NM_000267.3(NF1):c.205-1G>C rs1555605362
NM_000267.3(NF1):c.205-2A>G
NM_000267.3(NF1):c.2054C>G (p.Thr685Ser) rs876658190
NM_000267.3(NF1):c.2061A>G (p.Leu687=) rs143671377
NM_000267.3(NF1):c.2062G>T (p.Glu688Ter) rs1555613784
NM_000267.3(NF1):c.2064dup (p.Val689fs) rs1555613786
NM_000267.3(NF1):c.2065G>A (p.Val689Met) rs771784652
NM_000267.3(NF1):c.206_207delGA rs1060500321
NM_000267.3(NF1):c.2071del (p.Leu691fs) rs1060500364
NM_000267.3(NF1):c.2072T>C (p.Leu691Pro) rs1131691132
NM_000267.3(NF1):c.2072T>G (p.Leu691Arg) rs1131691132
NM_000267.3(NF1):c.2077A>G (p.Met693Val) rs1555613794
NM_000267.3(NF1):c.2084T>C (p.Leu695Pro) rs199474761
NM_000267.3(NF1):c.2085G>A (p.Leu695=) rs1060503889
NM_000267.3(NF1):c.2097C>T (p.Asp699=) rs547905840
NM_000267.3(NF1):c.2098A>G (p.Thr700Ala) rs1555613801
NM_000267.3(NF1):c.2101G>A (p.Glu701Lys)
NM_000267.3(NF1):c.2118C>T (p.Ala706=) rs1156646242
NM_000267.3(NF1):c.2122del (p.Ser708fs)
NM_000267.3(NF1):c.2126G>A (p.Cys709Tyr) rs864622547
NM_000267.3(NF1):c.212T>C (p.Phe71Ser) rs752396270
NM_000267.3(NF1):c.2130C>T (p.Phe710=) rs1555613806
NM_000267.3(NF1):c.2131C>T (p.Arg711Cys) rs1400902839
NM_000267.3(NF1):c.2133C>T (p.Arg711=) rs148085908
NM_000267.3(NF1):c.2142T>C (p.Cys714=) rs141382637
NM_000267.3(NF1):c.2148_2159delinsTGAAGTGTCT (p.Glu716fs) rs1567847538
NM_000267.3(NF1):c.2156T>C (p.Ile719Thr)
NM_000267.3(NF1):c.2158C>T (p.Arg720Trp) rs759679443
NM_000267.3(NF1):c.2158dup (p.Arg720fs)
NM_000267.3(NF1):c.2159G>A (p.Arg720Gln) rs1350468182
NM_000267.3(NF1):c.2161T>C (p.Cys721Arg)
NM_000267.3(NF1):c.2163T>A (p.Cys721Ter) rs1555613816
NM_000267.3(NF1):c.2167del (p.Val723fs) rs1567847571
NM_000267.3(NF1):c.2175A>G (p.Glu725=) rs1555613817
NM_000267.3(NF1):c.2178G>C (p.Val726=) rs369590240
NM_000267.3(NF1):c.2181A>G (p.Ser727=) rs1203116843
NM_000267.3(NF1):c.2187dup (p.Asn730Ter) rs1555613821
NM_000267.3(NF1):c.2188A>C (p.Asn730His) rs758893131
NM_000267.3(NF1):c.2188A>T (p.Asn730Tyr) rs758893131
NM_000267.3(NF1):c.2189A>C (p.Asn730Thr) rs778033578
NM_000267.3(NF1):c.2191C>T (p.Leu731Phe) rs185204667
NM_000267.3(NF1):c.2199C>A (p.Pro733=) rs1555613826
NM_000267.3(NF1):c.219A>T (p.Glu73Asp) rs1567816022
NM_000267.3(NF1):c.2203T>C (p.Tyr735His) rs1555613827
NM_000267.3(NF1):c.2206A>C (p.Asn736His) rs1567847621
NM_000267.3(NF1):c.2208_2209CA[1] (p.Thr737fs) rs1555613831
NM_000267.3(NF1):c.2211A>T (p.Thr737=) rs1178560430
NM_000267.3(NF1):c.2218G>T (p.Glu740Ter) rs1135402827
NM_000267.3(NF1):c.221_222dup (p.Ala75fs)
NM_000267.3(NF1):c.2224G>T (p.Ala742Ser) rs587781896
NM_000267.3(NF1):c.2226C>G (p.Ala742=) rs1060503912
NM_000267.3(NF1):c.2232C>G (p.Val744=) rs748865537
NM_000267.3(NF1):c.2233A>G (p.Ser745Gly) rs786201865
NM_000267.3(NF1):c.2235C>T (p.Ser745=) rs1060503901
NM_000267.3(NF1):c.2237A>G (p.Asn746Ser) rs1176567641
NM_000267.3(NF1):c.2238T>C (p.Asn746=) rs768161162
NM_000267.3(NF1):c.2239A>G (p.Met747Val) rs1471232737
NM_000267.3(NF1):c.223G>A (p.Ala75Thr)
NM_000267.3(NF1):c.2244G>A (p.Met748Ile) rs786202478
NM_000267.3(NF1):c.2248A>G (p.Thr750Ala) rs748064845
NM_000267.3(NF1):c.2250A>G (p.Thr750=) rs876659061
NM_000267.3(NF1):c.2251+1G>A rs1555613843
NM_000267.3(NF1):c.2251+1G>C rs1555613843
NM_000267.3(NF1):c.2251+2T>G rs864622142
NM_000267.3(NF1):c.2251+5A>G rs786201934
NM_000267.3(NF1):c.2251+9G>T rs772014402
NM_000267.3(NF1):c.2251G>A (p.Gly751Arg)
NM_000267.3(NF1):c.2251G>C (p.Gly751Arg) rs1567847681
NM_000267.3(NF1):c.2252-1G>A rs587781577
NM_000267.3(NF1):c.2252-1G>T rs587781577
NM_000267.3(NF1):c.2252-1delG
NM_000267.3(NF1):c.2252-2A>C rs1131691105
NM_000267.3(NF1):c.2252-2A>G rs1131691105
NM_000267.3(NF1):c.2252-31A>T rs141082540
NM_000267.3(NF1):c.2252-34T>C rs200937398
NM_000267.3(NF1):c.2252-70_2326-39dup rs1555613896
NM_000267.3(NF1):c.2252-9T>G rs1555613907
NM_000267.3(NF1):c.2257G>A (p.Ala753Thr) rs758325102
NM_000267.3(NF1):c.2261C>G (p.Ala754Gly) rs1555613912
NM_000267.3(NF1):c.2266C>T (p.Gln756Ter) rs1567847905
NM_000267.3(NF1):c.2269A>T (p.Lys757Ter) rs1270674587
NM_000267.3(NF1):c.2271A>G (p.Lys757=) rs1555613916
NM_000267.3(NF1):c.2271A>T (p.Lys757Asn) rs1555613916
NM_000267.3(NF1):c.2272A>T (p.Arg758Ter)
NM_000267.3(NF1):c.2274A>T (p.Arg758Ser)
NM_000267.3(NF1):c.2275G>T (p.Val759Leu)
NM_000267.3(NF1):c.2281G>C (p.Ala761Pro) rs786202504
NM_000267.3(NF1):c.2284C>T (p.Leu762=) rs370762336
NM_000267.3(NF1):c.2287C>G (p.Leu763Val)
NM_000267.3(NF1):c.2288T>C (p.Leu763Pro) rs199474762
NM_000267.3(NF1):c.2288T>G (p.Leu763Arg) rs199474762
NM_000267.3(NF1):c.2293C>G (p.Arg765Gly) rs1383770460
NM_000267.3(NF1):c.2293del (p.Arg765fs)
NM_000267.3(NF1):c.2294G>A (p.Arg765His) rs199474777
NM_000267.3(NF1):c.2297T>G (p.Ile766Ser) rs863224657
NM_000267.3(NF1):c.2298_2304del (p.Glu767fs) rs786204154
NM_000267.3(NF1):c.2309_2315dup (p.Asn773fs) rs1555613926
NM_000267.3(NF1):c.231A>T (p.Lys77Asn) rs373563053
NM_000267.3(NF1):c.2321C>T (p.Thr774Ile) rs917302286
NM_000267.3(NF1):c.2322_2323del (p.Glu775fs) rs1567847962
NM_000267.3(NF1):c.2325+1G>A rs1555613933
NM_000267.3(NF1):c.2325+1G>T rs1555613933
NM_000267.3(NF1):c.2325+2T>C rs1567847972
NM_000267.3(NF1):c.2325+3A>G rs1057517848
NM_000267.3(NF1):c.2325+4T>C rs1555613934
NM_000267.3(NF1):c.2325+6C>T rs1567847979
NM_000267.3(NF1):c.2325+7C>T rs1555613937
NM_000267.3(NF1):c.2325G>A (p.Glu775=) rs1555613932
NM_000267.3(NF1):c.2325G>T (p.Glu775Asp)
NM_000267.3(NF1):c.2326-10T>G rs1555613971
NM_000267.3(NF1):c.2326-1G>A
NM_000267.3(NF1):c.2326-1G>C rs1567848100
NM_000267.3(NF1):c.2326-2A>G rs1555613975
NM_000267.3(NF1):c.2326-8C>T rs878853874
NM_000267.3(NF1):c.2326-9T>A rs181838967
NM_000267.3(NF1):c.2329T>A (p.Trp777Arg) rs876658853
NM_000267.3(NF1):c.2329T>C (p.Trp777Arg)
NM_000267.3(NF1):c.2329T>G (p.Trp777Gly)
NM_000267.3(NF1):c.232_234del (p.Asn78del) rs1555605367
NM_000267.3(NF1):c.2330G>C (p.Trp777Ser) rs199474745
NM_000267.3(NF1):c.2338A>G (p.Thr780Ala) rs1205746953
NM_000267.3(NF1):c.2338_2343del (p.Thr780_His781del) rs1135402828
NM_000267.3(NF1):c.2338dup (p.Thr780fs) rs1567848129
NM_000267.3(NF1):c.2339C>A (p.Thr780Lys) rs199474746
NM_000267.3(NF1):c.2339C>G (p.Thr780Arg) rs199474746
NM_000267.3(NF1):c.233del (p.Asn78fs) rs1438566555
NM_000267.3(NF1):c.2342A>G (p.His781Arg)
NM_000267.3(NF1):c.2342A>T (p.His781Leu) rs199474763
NM_000267.3(NF1):c.2349del (p.Lys783fs) rs1135402829
NM_000267.3(NF1):c.234T>A (p.Asn78Lys) rs876658354
NM_000267.3(NF1):c.2350T>C (p.Trp784Arg) rs199474730
NM_000267.3(NF1):c.2352G>A (p.Trp784Ter) rs199474778
NM_000267.3(NF1):c.2355A>G (p.Glu785=) rs876658622
NM_000267.3(NF1):c.2356C>A (p.Gln786Lys) rs1555613999
NM_000267.3(NF1):c.2356C>T (p.Gln786Ter) rs1555613999
NM_000267.3(NF1):c.2358A>G (p.Gln786=) rs762346437
NM_000267.3(NF1):c.235T>C (p.Leu79=) rs764855221
NM_000267.3(NF1):c.2361A>G (p.Ala787=) rs371589922
NM_000267.3(NF1):c.236T>G (p.Leu79Ter)
NM_000267.3(NF1):c.2375T>A (p.Leu792His)
NM_000267.3(NF1):c.2378A>C (p.Asn793Thr) rs772543826
NM_000267.3(NF1):c.237A>G (p.Leu79=) rs752208826
NM_000267.3(NF1):c.237A>T (p.Leu79Phe) rs752208826
NM_000267.3(NF1):c.2380del (p.Tyr794fs) rs1567848178
NM_000267.3(NF1):c.2390C>T (p.Ala797Val) rs1181350360
NM_000267.3(NF1):c.2392A>C (p.Lys798Gln) rs1135402830
NM_000267.3(NF1):c.2393A>C (p.Lys798Thr) rs745498566
NM_000267.3(NF1):c.2395A>G (p.Met799Val)
NM_000267.3(NF1):c.2395A>T (p.Met799Leu) rs1060500317
NM_000267.3(NF1):c.239A>C (p.Tyr80Ser) rs4795581
NM_000267.3(NF1):c.239A>G (p.Tyr80Cys) rs4795581
NM_000267.3(NF1):c.2407C>T (p.Gln803Ter) rs1567848213
NM_000267.3(NF1):c.2409+1G>A
NM_000267.3(NF1):c.2409+1G>C rs1555614022
NM_000267.3(NF1):c.2409+2delT rs878853875
NM_000267.3(NF1):c.2409+5G>A rs763688567
NM_000267.3(NF1):c.240_241TC[3] (p.Gln83fs) rs771115661
NM_000267.3(NF1):c.2410-110_2850+65delinsAAAA rs1555614169
NM_000267.3(NF1):c.2410-12T>G
NM_000267.3(NF1):c.2410-16A>G rs1567848704
NM_000267.3(NF1):c.2410-18C>G
NM_000267.3(NF1):c.2410-8G>A rs1060500270
NM_000267.3(NF1):c.2410G>C (p.Ala804Pro) rs761109477
NM_000267.3(NF1):c.2411del (p.Ala804fs) rs1555614180
NM_000267.3(NF1):c.2415T>G (p.Ala805=) rs1555614182
NM_000267.3(NF1):c.241C>A (p.Leu81Ile) rs587782772
NM_000267.3(NF1):c.2424del (p.His809fs) rs1567848731
NM_000267.3(NF1):c.2434A>C (p.Ile812Leu) rs587781899
NM_000267.3(NF1):c.2434A>G (p.Ile812Val) rs587781899
NM_000267.3(NF1):c.2434del (p.Ile812fs) rs1567848739
NM_000267.3(NF1):c.2437G>A (p.Val813Ile) rs878853876
NM_000267.3(NF1):c.243_254delinsTGAGAGAGA (p.Ser82_Ile85delinsGluArgAsp)
NM_000267.3(NF1):c.2440A>G (p.Lys814Glu) rs1555614184
NM_000267.3(NF1):c.2441A>T (p.Lys814Met)
NM_000267.3(NF1):c.2445G>A (p.Arg815=) rs1555614186
NM_000267.3(NF1):c.2446C>T (p.Arg816Ter) rs886041347
NM_000267.3(NF1):c.2447G>A (p.Arg816Gln) rs762709897
NM_000267.3(NF1):c.2449dup (p.Met817fs) rs1567848755
NM_000267.3(NF1):c.244T>C (p.Ser82Pro)
NM_000267.3(NF1):c.2457T>C (p.His819=) rs976466916
NM_000267.3(NF1):c.2458del (p.His819_Val820insTer)
NM_000267.3(NF1):c.245C>T (p.Ser82Phe) rs199474729
NM_000267.3(NF1):c.2468G>A (p.Gly823Glu) rs1060500267
NM_000267.3(NF1):c.2474C>G (p.Ser825Cys) rs1060500314
NM_000267.3(NF1):c.2476A>C (p.Ile826Leu) rs767069721
NM_000267.3(NF1):c.2476A>G (p.Ile826Val) rs767069721
NM_000267.3(NF1):c.2479G>A (p.Asp827Asn)
NM_000267.3(NF1):c.247C>T (p.Gln83Ter)
NM_000267.3(NF1):c.2486C>T (p.Ser829Phe) rs1567848794
NM_000267.3(NF1):c.248A>C (p.Gln83Pro)
NM_000267.3(NF1):c.248A>G (p.Gln83Arg) rs1060500360
NM_000267.3(NF1):c.2490C>T (p.Asp830=) rs786201629
NM_000267.3(NF1):c.2495A>G (p.Asp832Gly) rs1060500283
NM_000267.3(NF1):c.2502A>G (p.Leu834=) rs953405312
NM_000267.3(NF1):c.2503C>T (p.Gln835Ter) rs1555614207
NM_000267.3(NF1):c.2510G>A (p.Trp837Ter) rs1348129244
NM_000267.3(NF1):c.2511G>A (p.Trp837Ter) rs1555614211
NM_000267.3(NF1):c.2512A>T (p.Ile838Phe) rs1555614212
NM_000267.3(NF1):c.2514C>G (p.Ile838Met) rs863224352
NM_000267.3(NF1):c.2514C>T (p.Ile838=) rs863224352
NM_000267.3(NF1):c.2516A>T (p.Asn839Ile) rs1567848834
NM_000267.3(NF1):c.2525del (p.Gly842fs)
NM_000267.3(NF1):c.2530C>T (p.Leu844Phe) rs199474785
NM_000267.3(NF1):c.2531T>G (p.Leu844Arg) rs137854566
NM_000267.3(NF1):c.2533T>C (p.Cys845Arg) rs1060500254
NM_000267.3(NF1):c.2534G>A (p.Cys845Tyr) rs1060500367
NM_000267.3(NF1):c.2536G>A (p.Ala846Thr) rs1555614226
NM_000267.3(NF1):c.2537C>A (p.Ala846Asp) rs1555614229
NM_000267.3(NF1):c.2539C>G (p.Leu847Val)
NM_000267.3(NF1):c.2539C>T (p.Leu847Phe) rs753552408
NM_000267.3(NF1):c.2540T>C (p.Leu847Pro) rs199474747
NM_000267.3(NF1):c.2540T>G (p.Leu847Arg)
NM_000267.3(NF1):c.2541T>C (p.Leu847=) rs147433258
NM_000267.3(NF1):c.2542G>A (p.Gly848Arg)
NM_000267.3(NF1):c.2542G>C (p.Gly848Arg) rs1060500368
NM_000267.3(NF1):c.2543G>A (p.Gly848Glu) rs199474748
NM_000267.3(NF1):c.2544G>A (p.Gly848=) rs17883704
NM_000267.3(NF1):c.2545_2546dup (p.Val850fs) rs1567848878
NM_000267.3(NF1):c.2547A>C (p.Gly849=) rs748303121
NM_000267.3(NF1):c.2549T>C (p.Val850Ala)
NM_000267.3(NF1):c.2550G>A (p.Val850=) rs772148227
NM_000267.3(NF1):c.2550G>T (p.Val850=) rs772148227
NM_000267.3(NF1):c.2552del (p.Cys851fs) rs1555614260
NM_000267.3(NF1):c.2553C>T (p.Cys851=) rs2230852
NM_000267.3(NF1):c.2556C>T (p.Leu852=) rs771308677
NM_000267.3(NF1):c.2560C>T (p.Gln854Ter) rs1555614261
NM_000267.3(NF1):c.2564G>C (p.Arg855Thr) rs786203716
NM_000267.3(NF1):c.2569A>C (p.Asn857His) rs1060500259
NM_000267.3(NF1):c.256A>G (p.Ile86Val)
NM_000267.3(NF1):c.2570A>G (p.Asn857Ser) rs1060500299
NM_000267.3(NF1):c.2573C>G (p.Ser858Cys) rs369493270
NM_000267.3(NF1):c.2576G>C (p.Gly859Ala) rs876659829
NM_000267.3(NF1):c.2581G>A (p.Ala861Thr) rs768425956
NM_000267.3(NF1):c.2581G>C (p.Ala861Pro) rs768425956
NM_000267.3(NF1):c.2583A>G (p.Ala861=) rs1060503891
NM_000267.3(NF1):c.2585C>G (p.Thr862Ser) rs200302954
NM_000267.3(NF1):c.2592C>T (p.Ser864=) rs761499485
NM_000267.3(NF1):c.2594C>T (p.Pro865Leu) rs786203084
NM_000267.3(NF1):c.2596C>T (p.Pro866Ser) rs1555614272
NM_000267.3(NF1):c.2597C>T (p.Pro866Leu) rs767159555
NM_000267.3(NF1):c.2599A>G (p.Met867Val) rs864622715
NM_000267.3(NF1):c.2604dup (p.Pro869fs) rs878853877
NM_000267.3(NF1):c.2606C>T (p.Pro869Leu) rs878853878
NM_000267.3(NF1):c.2617C>G (p.Arg873Gly)
NM_000267.3(NF1):c.2617C>T (p.Arg873Cys) rs199474739
NM_000267.3(NF1):c.2618G>A (p.Arg873His) rs949092641
NM_000267.3(NF1):c.2618G>C (p.Arg873Pro) rs949092641
NM_000267.3(NF1):c.2619T>C (p.Arg873=) rs766212733
NM_000267.3(NF1):c.2619dup (p.Lys874Ter) rs1555614284
NM_000267.3(NF1):c.2622G>A (p.Lys874=) rs77917884
NM_000267.3(NF1):c.2622_2629del (p.Lys874fs) rs1567848976
NM_000267.3(NF1):c.2623G>A (p.Gly875Ser) rs754734571
NM_000267.3(NF1):c.2624G>T (p.Gly875Val) rs1060500361
NM_000267.3(NF1):c.2629A>G (p.Met877Val) rs764950557
NM_000267.3(NF1):c.2633T>C (p.Ile878Thr) rs372049168
NM_000267.3(NF1):c.2640G>A (p.Val880=) rs786202443
NM_000267.3(NF1):c.2641A>G (p.Met881Val) rs1060500263
NM_000267.3(NF1):c.2642T>C (p.Met881Thr)
NM_000267.3(NF1):c.2643G>A (p.Met881Ile) rs376666221
NM_000267.3(NF1):c.264T>C (p.Asp88=) rs1359209770
NM_000267.3(NF1):c.2652G>A (p.Glu884=) rs757843283
NM_000267.3(NF1):c.2653G>A (p.Gly885Arg) rs1060500272
NM_000267.3(NF1):c.2658C>T (p.Asn886=) rs781549970
NM_000267.3(NF1):c.2659G>A (p.Ala887Thr) rs1251621684
NM_000267.3(NF1):c.2660C>T (p.Ala887Val) rs1567849029
NM_000267.3(NF1):c.2665A>G (p.Thr889Ala) rs1314766383
NM_000267.3(NF1):c.2665dup (p.Thr889fs) rs886041348
NM_000267.3(NF1):c.2666C>G (p.Thr889Arg) rs369912079
NM_000267.3(NF1):c.2668C>T (p.Pro890Ser) rs771012891
NM_000267.3(NF1):c.2668_2677del (p.Pro890fs) rs1555614293
NM_000267.3(NF1):c.266C>A (p.Thr89Lys) rs1555605392
NM_000267.3(NF1):c.2671G>C (p.Val891Leu) rs1060500256
NM_000267.3(NF1):c.2674A>T (p.Ser892Cys) rs746324091
NM_000267.3(NF1):c.2674del (p.Ser892fs) rs1555614296
NM_000267.3(NF1):c.2683A>G (p.Met895Val) rs876659129
NM_000267.3(NF1):c.2684T>G (p.Met895Arg) rs1555614301
NM_000267.3(NF1):c.2689C>T (p.Arg897Trp) rs775949348
NM_000267.3(NF1):c.2690G>A (p.Arg897Gln) rs863224658
NM_000267.3(NF1):c.2690G>C (p.Arg897Pro) rs863224658
NM_000267.3(NF1):c.2693T>C (p.Leu898Pro) rs199474786
NM_000267.3(NF1):c.2694G>C (p.Leu898=) rs1060503923
NM_000267.3(NF1):c.2695_2738dup (p.Arg914_Thr915insCysProTer)
NM_000267.3(NF1):c.269T>G (p.Leu90Arg) rs1555605393
NM_000267.3(NF1):c.2702T>G (p.Leu901Ter)
NM_000267.3(NF1):c.2709G>A (p.Val903=) rs771820789
NM_000267.3(NF1):c.2709G>T (p.Val903=) rs771820789
NM_000267.3(NF1):c.2710dup (p.Cys904fs) rs1555614310
NM_000267.3(NF1):c.2725G>T (p.Val909Leu) rs1567849105
NM_000267.3(NF1):c.2729dup (p.Leu911fs) rs1555614313
NM_000267.3(NF1):c.2734C>T (p.Gln912Ter)
NM_000267.3(NF1):c.2736A>G (p.Gln912=) rs760097413
NM_000267.3(NF1):c.2739dup (p.Arg914fs) rs1555614319
NM_000267.3(NF1):c.2740C>T (p.Arg914Trp)
NM_000267.3(NF1):c.2741G>A (p.Arg914Gln) rs776447057
NM_000267.3(NF1):c.2742G>A (p.Arg914=) rs1555614324
NM_000267.3(NF1):c.2747A>G (p.Asn916Ser) rs765043916
NM_000267.3(NF1):c.2749G>A (p.Val917Ile) rs752455591
NM_000267.3(NF1):c.274A>G (p.Lys92Glu) rs1555605396
NM_000267.3(NF1):c.2754G>A (p.Lys918=) rs1555614330
NM_000267.3(NF1):c.2757T>A (p.Asp919Glu)
NM_000267.3(NF1):c.2759T>A (p.Leu920Gln)
NM_000267.3(NF1):c.2761G>A (p.Val921Met) rs567023433
NM_000267.3(NF1):c.2764G>A (p.Gly922Ser) rs1135402831
NM_000267.3(NF1):c.2765G>A (p.Gly922Asp) rs1378141985
NM_000267.3(NF1):c.276A>G (p.Lys92=) rs1060503900
NM_000267.3(NF1):c.276A>T (p.Lys92Asn)
NM_000267.3(NF1):c.2781T>G (p.Pro927=) rs1555614337
NM_000267.3(NF1):c.2782G>A (p.Ala928Thr) rs1277935019
NM_000267.3(NF1):c.2786T>C (p.Leu929Pro) rs1555614338
NM_000267.3(NF1):c.2786T>G (p.Leu929Arg) rs1555614338
NM_000267.3(NF1):c.278G>A (p.Cys93Tyr) rs199474728
NM_000267.3(NF1):c.2790T>G (p.Tyr930Ter) rs1135402832
NM_000267.3(NF1):c.2794A>G (p.Met932Val) rs886052800
NM_000267.3(NF1):c.2798T>C (p.Leu933Pro) rs1555614342
NM_000267.3(NF1):c.279T>A (p.Cys93Ter)
NM_000267.3(NF1):c.2802del (p.Phe934fs) rs1555614343
NM_000267.3(NF1):c.2803A>C (p.Asn935His) rs786201823
NM_000267.3(NF1):c.2805C>T (p.Asn935=) rs1060503894
NM_000267.3(NF1):c.2809T>G (p.Leu937Val) rs1567849181
NM_000267.3(NF1):c.2819C>G (p.Thr940Ser) rs368995630
NM_000267.3(NF1):c.2821A>G (p.Ile941Val) rs876659888
NM_000267.3(NF1):c.2825G>C (p.Ser942Thr) rs1555614350
NM_000267.3(NF1):c.2827A>T (p.Lys943Ter) rs1567849199
NM_000267.3(NF1):c.282del (p.Ala95fs) rs1555605404
NM_000267.3(NF1):c.2838C>T (p.Asp946=) rs147188807
NM_000267.3(NF1):c.2839T>A (p.Ser947Thr) rs1567849219
NM_000267.3(NF1):c.2840C>G (p.Ser947Cys) rs878853879
NM_000267.3(NF1):c.2841C>T (p.Ser947=) rs1555614355
NM_000267.3(NF1):c.2842dup (p.Gln948fs) rs1555614354
NM_000267.3(NF1):c.2846dup (p.Gln950fs) rs1555614358
NM_000267.3(NF1):c.2848C>T (p.Gln950Ter) rs1060500357
NM_000267.3(NF1):c.2848del (p.Gln950fs) rs1135402833
NM_000267.3(NF1):c.284C>T (p.Ala95Val) rs1567816119
NM_000267.3(NF1):c.2850+10T>G rs771916458
NM_000267.3(NF1):c.2850+1G>A rs1131691122
NM_000267.3(NF1):c.2850+2T>G
NM_000267.3(NF1):c.2850+5A>G rs864622633
NM_000267.3(NF1):c.2850+5A>T rs864622633
NM_000267.3(NF1):c.2850G>C (p.Gln950His) rs863224446
NM_000267.3(NF1):c.2851-10C>G rs1555614412
NM_000267.3(NF1):c.2851-151_2990+121dup rs1555614386
NM_000267.3(NF1):c.2851-1G>A
NM_000267.3(NF1):c.2851-6_2851-3delCTTT
NM_000267.3(NF1):c.2851G>A (p.Val951Ile)
NM_000267.3(NF1):c.2856A>G (p.Leu952=) rs750488772
NM_000267.3(NF1):c.2866dup (p.Thr956fs) rs1555614418
NM_000267.3(NF1):c.2867C>T (p.Thr956Ile)
NM_000267.3(NF1):c.2870A>T (p.Asn957Ile) rs1135402834
NM_000267.3(NF1):c.2870del (p.Asn957fs) rs1555614423
NM_000267.3(NF1):c.2873_2877delinsTGG (p.Thr958fs) rs1555614426
NM_000267.3(NF1):c.2876_2877insG (p.Phe960fs) rs1555614429
NM_000267.3(NF1):c.288+10T>G rs1364620059
NM_000267.3(NF1):c.288+1G>C
NM_000267.3(NF1):c.288+1G>T rs1567816131
NM_000267.3(NF1):c.288+1del rs1057519370
NM_000267.3(NF1):c.288+2T>A rs1555605406
NM_000267.3(NF1):c.288+2T>C rs1555605406
NM_000267.3(NF1):c.288+4A>G rs781459468
NM_000267.3(NF1):c.288+5G>A
NM_000267.3(NF1):c.288+5G>T rs1555605409
NM_000267.3(NF1):c.2886_2897del (p.Glu962_Ala966delinsAsp) rs1135402835
NM_000267.3(NF1):c.2887C>T (p.Gln963Ter) rs876660444
NM_000267.3(NF1):c.289-3T>C
NM_000267.3(NF1):c.289-6T>C rs757074803
NM_000267.3(NF1):c.2894T>G (p.Ile965Arg) rs1555614438
NM_000267.3(NF1):c.2896G>A (p.Ala966Thr) rs876658849
NM_000267.3(NF1):c.2897C>G (p.Ala966Gly) rs1567849533
NM_000267.3(NF1):c.2899A>G (p.Ile967Val) rs876660279
NM_000267.3(NF1):c.2902A>G (p.Met968Val) rs587781499
NM_000267.3(NF1):c.2915T>A (p.Leu972Gln)
NM_000267.3(NF1):c.2915T>C (p.Leu972Pro)
NM_000267.3(NF1):c.2928T>C (p.Thr976=) rs1555614446
NM_000267.3(NF1):c.2932G>T (p.Gly978Cys)
NM_000267.3(NF1):c.2947_2948del (p.Leu983fs)
NM_000267.3(NF1):c.2953C>T (p.Gln985Ter) rs1555614455
NM_000267.3(NF1):c.2954A>T (p.Gln985Leu) rs1567849565
NM_000267.3(NF1):c.2960G>A (p.Ser987Asn) rs1060500329
NM_000267.3(NF1):c.2963T>C (p.Ile988Thr)
NM_000267.3(NF1):c.2968A>C (p.Thr990Pro) rs876658299
NM_000267.3(NF1):c.2969_2970dup (p.Met991fs) rs1555614458
NM_000267.3(NF1):c.2970_2971del (p.Met991fs)
NM_000267.3(NF1):c.2970_2972del (p.Met992del) rs267606606
NM_000267.3(NF1):c.2971A>G (p.Met991Val) rs1268543864
NM_000267.3(NF1):c.2972T>C (p.Met991Thr) rs1060500298
NM_000267.3(NF1):c.2985G>C (p.Leu995=) rs17881467
NM_000267.3(NF1):c.298del (p.Asp100fs) rs1567817841
NM_000267.3(NF1):c.2990+1G>A rs1135402836
NM_000267.3(NF1):c.2990+3A>T
NM_000267.3(NF1):c.2990+5G>A rs1555614464
NM_000267.3(NF1):c.2990+7A>G rs1555614465
NM_000267.3(NF1):c.2990+7A>T rs1555614465
NM_000267.3(NF1):c.2990G>A (p.Arg997Lys)
NM_000267.3(NF1):c.2990G>C (p.Arg997Thr) rs1555614462
NM_000267.3(NF1):c.2990G>T (p.Arg997Met) rs1555614462
NM_000267.3(NF1):c.2991-1G>A rs1060500273
NM_000267.3(NF1):c.2991-1G>C rs1060500273
NM_000267.3(NF1):c.2991-2A>C rs1555614495
NM_000267.3(NF1):c.2991-3T>G
NM_000267.3(NF1):c.2991-4A>G rs754414489
NM_000267.3(NF1):c.2991-6A>G rs1191095886
NM_000267.3(NF1):c.2991G>C (p.Arg997Ser)
NM_000267.3(NF1):c.2991G>T (p.Arg997Ser) rs755501749
NM_000267.3(NF1):c.2998C>T (p.Arg1000Cys) rs367684252
NM_000267.3(NF1):c.2999G>A (p.Arg1000His) rs753082620
NM_000267.3(NF1):c.2999G>T (p.Arg1000Leu) rs753082620
NM_000267.3(NF1):c.3000T>C (p.Arg1000=) rs764332485
NM_000267.3(NF1):c.3011A>G (p.Asn1004Ser)
NM_000267.3(NF1):c.3013A>G (p.Met1005Val) rs1555614502
NM_000267.3(NF1):c.3016G>A (p.Val1006Ile) rs1060500383
NM_000267.3(NF1):c.3017T>C (p.Val1006Ala)
NM_000267.3(NF1):c.3024A>G (p.Ala1008=) rs779490777
NM_000267.3(NF1):c.3027del (p.Gln1010fs) rs1135402837
NM_000267.3(NF1):c.3037A>C (p.Thr1013Pro)
NM_000267.3(NF1):c.3037del (p.Thr1013fs) rs1135402838
NM_000267.3(NF1):c.3038C>T (p.Thr1013Met) rs786203132
NM_000267.3(NF1):c.3039G>A (p.Thr1013=) rs876660168
NM_000267.3(NF1):c.3040A>G (p.Lys1014Glu) rs1135402839
NM_000267.3(NF1):c.3040A>T (p.Lys1014Ter) rs1135402839
NM_000267.3(NF1):c.3043del (p.Leu1015fs) rs1555614514
NM_000267.3(NF1):c.3045G>A (p.Leu1015=) rs926335233
NM_000267.3(NF1):c.3045_3046GT[1] (p.Cys1016fs)
NM_000267.3(NF1):c.3046T>C (p.Cys1016Arg) rs878853880
NM_000267.3(NF1):c.3047_3048insSVA (p.Cys1016delinsXaaXaa)
NM_000267.3(NF1):c.3048T>A (p.Cys1016Ter) rs1135402840
NM_000267.3(NF1):c.304A>G (p.Met102Val) rs756370324
NM_000267.3(NF1):c.3053T>A (p.Leu1018Ter)
NM_000267.3(NF1):c.3054A>C (p.Leu1018Phe)
NM_000267.3(NF1):c.3055G>A (p.Val1019Ile) rs1567849826
NM_000267.3(NF1):c.3056T>C (p.Val1019Ala) rs1555614520
NM_000267.3(NF1):c.3060del (p.Glu1020_Val1021insTer) rs1555614521
NM_000267.3(NF1):c.3062T>G (p.Val1021Gly) rs1355411201
NM_000267.3(NF1):c.3063A>C (p.Val1021=) rs768611775
NM_000267.3(NF1):c.3064del (p.Val1021_Met1022insTer) rs878853881
NM_000267.3(NF1):c.3065_3073dup (p.Met1022_Ala1024dup) rs1567849843
NM_000267.3(NF1):c.3071C>T (p.Ala1024Val) rs1555614525
NM_000267.3(NF1):c.3074G>A (p.Arg1025Lys) rs876659876
NM_000267.3(NF1):c.3075del (p.Arg1026fs) rs1555614526
NM_000267.3(NF1):c.3076A>T (p.Arg1026Ter) rs1555614529
NM_000267.3(NF1):c.3078A>C (p.Arg1026Ser)
NM_000267.3(NF1):c.3079G>A (p.Asp1027Asn)
NM_000267.3(NF1):c.3081T>C (p.Asp1027=) rs1555614532
NM_000267.3(NF1):c.3089C>G (p.Ser1030Ter) rs1567849864
NM_000267.3(NF1):c.3094dup (p.Cys1032fs) rs1555614535
NM_000267.3(NF1):c.3103A>G (p.Met1035Val) rs771694969
NM_000267.3(NF1):c.3104T>A (p.Met1035Lys)
NM_000267.3(NF1):c.3104T>C (p.Met1035Thr) rs137854553
NM_000267.3(NF1):c.3104T>G (p.Met1035Arg) rs137854553
NM_000267.3(NF1):c.3107A>C (p.Lys1036Thr) rs1555614540
NM_000267.3(NF1):c.3111T>C (p.Phe1037=) rs200240170
NM_000267.3(NF1):c.3111dup (p.Arg1038Ter) rs1131691127
NM_000267.3(NF1):c.3113+1G>A rs267606599
NM_000267.3(NF1):c.3113+1G>T rs267606599
NM_000267.3(NF1):c.3113+2T>C rs876658997
NM_000267.3(NF1):c.3113+2T>G rs876658997
NM_000267.3(NF1):c.3113+5G>A rs1555614549
NM_000267.3(NF1):c.3113G>T (p.Arg1038Met) rs1060500313
NM_000267.3(NF1):c.3114-1G>A rs1555614611
NM_000267.3(NF1):c.3114-2A>G rs1428885377
NM_000267.3(NF1):c.3114-4A>G rs201550230
NM_000267.3(NF1):c.3114-4A>T rs201550230
NM_000267.3(NF1):c.3118A>G (p.Lys1040Glu) rs1555614619
NM_000267.3(NF1):c.311_312del (p.Arg103_Leu104insTer) rs1555606053
NM_000267.3(NF1):c.3124del (p.Met1041_Val1042insTer) rs1555614624
NM_000267.3(NF1):c.3134T>C (p.Leu1045Pro) rs1567850142
NM_000267.3(NF1):c.3139_3140del (p.Asp1047fs) rs863224490
NM_000267.3(NF1):c.3140A>G (p.Asp1047Gly) rs1555614631
NM_000267.3(NF1):c.3142T>G (p.Trp1048Gly) rs1555614634
NM_000267.3(NF1):c.3144G>A (p.Trp1048Ter) rs1555614635
NM_000267.3(NF1):c.3145G>A (p.Val1049Ile) rs1060500343
NM_000267.3(NF1):c.3149T>A (p.Met1050Lys)
NM_000267.3(NF1):c.3154A>G (p.Thr1052Ala)
NM_000267.3(NF1):c.3158C>G (p.Ser1053Ter)
NM_000267.3(NF1):c.3161_3165del (p.Asn1054fs) rs1555614642
NM_000267.3(NF1):c.3166G>A (p.Ala1056Thr) rs776907522
NM_000267.3(NF1):c.3169G>A (p.Ala1057Thr)
NM_000267.3(NF1):c.3173A>G (p.Asp1058Gly) rs1387858614
NM_000267.3(NF1):c.3180T>G (p.Asp1060Glu) rs1555614646
NM_000267.3(NF1):c.3186dup (p.Cys1063fs)
NM_000267.3(NF1):c.3189T>A (p.Cys1063Ter) rs1135402841
NM_000267.3(NF1):c.3192T>C (p.Leu1064=) rs1555614649
NM_000267.3(NF1):c.3195A>G (p.Thr1065=) rs1555614650
NM_000267.3(NF1):c.3197+1G>A rs1555614653
NM_000267.3(NF1):c.3197+2delT
NM_000267.3(NF1):c.3197+3A>T rs1359512152
NM_000267.3(NF1):c.3197+489_3382del
NM_000267.3(NF1):c.3197+9dupA rs755212937
NM_000267.3(NF1):c.3197G>C (p.Arg1066Thr) rs1555614652
NM_000267.3(NF1):c.3197G>T (p.Arg1066Ile) rs1555614652
NM_000267.3(NF1):c.3198-2A>G rs1131691089
NM_000267.3(NF1):c.3198-2A>T rs1131691089
NM_000267.3(NF1):c.3198-3C>T rs777759972
NM_000267.3(NF1):c.3198-3dupC rs1555614816
NM_000267.3(NF1):c.3198-4T>C rs587782218
NM_000267.3(NF1):c.3198-4_3198-3insTC rs864622717
NM_000267.3(NF1):c.3198-4_3198-3insTGT rs745559136
NM_000267.3(NF1):c.3198-4_3198-3insTTC rs864622717
NM_000267.3(NF1):c.3198-4_3198-3insTTTC rs864622717
NM_000267.3(NF1):c.3198-5T>C rs587782639
NM_000267.3(NF1):c.3198-5T>G
NM_000267.3(NF1):c.3198-5_3198-3dupTTC rs1227046003
NM_000267.3(NF1):c.3198-5_3198-4delTT rs371047262
NM_000267.3(NF1):c.3198-5_3198-4insC rs1555614804
NM_000267.3(NF1):c.3198A>G (p.Arg1066=) rs864622469
NM_000267.3(NF1):c.3204G>C (p.Leu1068Phe)
NM_000267.3(NF1):c.3212del (p.Ala1071fs)
NM_000267.3(NF1):c.3214dup (p.Ser1072fs) rs1555614825
NM_000267.3(NF1):c.3215G>A (p.Ser1072Asn)
NM_000267.3(NF1):c.3217A>G (p.Met1073Val) rs199474740
NM_000267.3(NF1):c.321G>A (p.Thr107=) rs786201731
NM_000267.3(NF1):c.3223G>T (p.Ala1075Ser)
NM_000267.3(NF1):c.3225A>G (p.Ala1075=) rs746022492
NM_000267.3(NF1):c.3238C>G (p.Leu1080Val) rs1555614832
NM_000267.3(NF1):c.323T>C (p.Met108Thr) rs780233935
NM_000267.3(NF1):c.3241G>A (p.Ala1081Thr) rs1555614834
NM_000267.3(NF1):c.3242C>G (p.Ala1081Gly) rs769941435
NM_000267.3(NF1):c.3243T>A (p.Ala1081=) rs1567850679
NM_000267.3(NF1):c.3245G>C (p.Gly1082Ala) rs1555614839
NM_000267.3(NF1):c.3245_3247del (p.Gly1082_Leu1083delinsVal)
NM_000267.3(NF1):c.3246T>C (p.Gly1082=) rs876660670
NM_000267.3(NF1):c.3250C>A (p.Pro1084Thr) rs1555614848
NM_000267.3(NF1):c.3250C>T (p.Pro1084Ser) rs1555614848
NM_000267.3(NF1):c.3250_3251dup (p.Gln1086fs) rs1555614845
NM_000267.3(NF1):c.3251C>T (p.Pro1084Leu) rs1164081667
NM_000267.3(NF1):c.3270A>C (p.Gly1090=) rs150015024
NM_000267.3(NF1):c.3274G>A (p.Gly1092Ser) rs1457169236
NM_000267.3(NF1):c.3275G>A (p.Gly1092Asp)
NM_000267.3(NF1):c.3277G>A (p.Val1093Met) rs1555614858
NM_000267.3(NF1):c.3287T>C (p.Met1096Thr) rs863224659
NM_000267.3(NF1):c.3288_3294dup (p.Lys1099fs) rs1555614862
NM_000267.3(NF1):c.328del (p.Val110fs) rs1567817865
NM_000267.3(NF1):c.3299_3300CA[1] (p.Gln1101fs) rs1555614866
NM_000267.3(NF1):c.3300A>G (p.Ser1100=) rs1060503915
NM_000267.3(NF1):c.3303G>A (p.Gln1101=) rs876659944
NM_000267.3(NF1):c.3313A>T (p.Lys1105Ter) rs1555614867
NM_000267.3(NF1):c.3314+1G>A
NM_000267.3(NF1):c.3314+2T>A rs863224445
NM_000267.3(NF1):c.3315-1G>A
NM_000267.3(NF1):c.3315-1G>C rs1567850984
NM_000267.3(NF1):c.3315-8T>C rs764783865
NM_000267.3(NF1):c.3315A>G (p.Lys1105=) rs1555614915
NM_000267.3(NF1):c.3318C>A (p.Tyr1106Ter) rs876659289
NM_000267.3(NF1):c.3324_3325del (p.Leu1109fs) rs1555614918
NM_000267.3(NF1):c.332_335del (p.Lys111fs) rs1135402787
NM_000267.3(NF1):c.3332T>C (p.Met1111Thr) rs1555614920
NM_000267.3(NF1):c.3336C>A (p.Asn1112Lys) rs1060500262
NM_000267.3(NF1):c.3340T>C (p.Leu1114=) rs1555614928
NM_000267.3(NF1):c.3346G>C (p.Asp1116His) rs1555614932
NM_000267.3(NF1):c.334C>T (p.Gln112Ter) rs1555606061
NM_000267.3(NF1):c.3352A>G (p.Ser1118Gly) rs201645318
NM_000267.3(NF1):c.3357del (p.Val1120fs) rs1555614934
NM_000267.3(NF1):c.3358G>T (p.Val1120Phe) rs200594167
NM_000267.3(NF1):c.3359T>C (p.Val1120Ala) rs751571517
NM_000267.3(NF1):c.3361G>T (p.Glu1121Ter) rs1567851029
NM_000267.3(NF1):c.3362A>G (p.Glu1121Gly) rs757222815
NM_000267.3(NF1):c.3368A>G (p.Glu1123Gly)
NM_000267.3(NF1):c.3370dup (p.Ser1124fs)
NM_000267.3(NF1):c.3371G>A (p.Ser1124Asn) rs374472758
NM_000267.3(NF1):c.3374C>T (p.Ala1125Val) rs902739109
NM_000267.3(NF1):c.3375G>A (p.Ala1125=) rs112589561
NM_000267.3(NF1):c.3375G>T (p.Ala1125=) rs112589561
NM_000267.3(NF1):c.3376C>T (p.Gln1126Ter) rs1555614947
NM_000267.3(NF1):c.3378_3381dup (p.Gly1128fs)
NM_000267.3(NF1):c.3383G>A (p.Gly1128Asp) rs1060500325
NM_000267.3(NF1):c.3384del (p.Gly1129fs) rs1567851054
NM_000267.3(NF1):c.338dup (p.Leu113fs)
NM_000267.3(NF1):c.3394C>T (p.Arg1132Cys) rs587781725
NM_000267.3(NF1):c.3395G>A (p.Arg1132His) rs778920556
NM_000267.3(NF1):c.3400A>G (p.Met1134Val)
NM_000267.3(NF1):c.3402_3405dup (p.Arg1136fs)
NM_000267.3(NF1):c.3404C>T (p.Ser1135Phe) rs1555614952
NM_000267.3(NF1):c.3407G>A (p.Arg1136Gln)
NM_000267.3(NF1):c.3407G>C (p.Arg1136Pro) rs868407539
NM_000267.3(NF1):c.340C>T (p.Leu114=) rs7207410
NM_000267.3(NF1):c.3412C>T (p.Leu1138=) rs1555614958
NM_000267.3(NF1):c.3416C>A (p.Ala1139Glu) rs1555614960
NM_000267.3(NF1):c.3417A>C (p.Ala1139=) rs864622524
NM_000267.3(NF1):c.3417A>T (p.Ala1139=) rs864622524
NM_000267.3(NF1):c.3420A>G (p.Ser1140=) rs1555614961
NM_000267.3(NF1):c.3427C>T (p.His1143Tyr) rs1555614963
NM_000267.3(NF1):c.3428A>G (p.His1143Arg) rs1555614965
NM_000267.3(NF1):c.3429_3432dup (p.Thr1145fs) rs1135402842
NM_000267.3(NF1):c.3431_3432dup (p.Thr1145fs) rs1555614966
NM_000267.3(NF1):c.3435G>A (p.Thr1145=) rs772432150
NM_000267.3(NF1):c.3436G>A (p.Val1146Ile) rs201047812
NM_000267.3(NF1):c.3436G>T (p.Val1146Phe)
NM_000267.3(NF1):c.3438C>T (p.Val1146=) rs876659646
NM_000267.3(NF1):c.3445A>G (p.Met1149Val) rs1187097568
NM_000267.3(NF1):c.3446T>C (p.Met1149Thr)
NM_000267.3(NF1):c.3447G>A (p.Met1149Ile) rs1064794277
NM_000267.3(NF1):c.3447G>C (p.Met1149Ile)
NM_000267.3(NF1):c.3447G>T (p.Met1149Ile) rs1064794277
NM_000267.3(NF1):c.3447_3448dup (p.Ser1150fs)
NM_000267.3(NF1):c.3451A>G (p.Asn1151Asp) rs1567851125
NM_000267.3(NF1):c.3456dup (p.Leu1153fs)
NM_000267.3(NF1):c.3457_3460del (p.Leu1153fs) rs1321848637
NM_000267.3(NF1):c.3461A>G (p.Asn1154Ser) rs371544233
NM_000267.3(NF1):c.3461A>T (p.Asn1154Ile) rs371544233
NM_000267.3(NF1):c.3461dup (p.Asn1154fs)
NM_000267.3(NF1):c.3464C>G (p.Ala1155Gly)
NM_000267.3(NF1):c.3467A>G (p.Asn1156Ser) rs199474764
NM_000267.3(NF1):c.3468C>A (p.Asn1156Lys) rs147955381
NM_000267.3(NF1):c.3468C>T (p.Asn1156=) rs147955381
NM_000267.3(NF1):c.3484A>G (p.Met1162Val) rs773968270
NM_000267.3(NF1):c.3484dup (p.Met1162fs) rs1555614977
NM_000267.3(NF1):c.3485T>G (p.Met1162Arg) rs200732832
NM_000267.3(NF1):c.3490T>G (p.Ser1164Ala) rs750303863
NM_000267.3(NF1):c.3494T>A (p.Ile1165Lys) rs786204211
NM_000267.3(NF1):c.3496+19T>C rs9890283
NM_000267.3(NF1):c.3496+3G>A rs1060500287
NM_000267.3(NF1):c.3496+57_4772+2639dup
NM_000267.3(NF1):c.3496+5G>A
NM_000267.3(NF1):c.3496+7T>C rs1060503921
NM_000267.3(NF1):c.3496G>A (p.Gly1166Ser)
NM_000267.3(NF1):c.3497-1G>A rs1555615004
NM_000267.3(NF1):c.3497delG rs1567851231
NM_000267.3(NF1):c.3498C>T (p.Gly1166=) rs2066733
NM_000267.3(NF1):c.349A>G (p.Ile117Val)
NM_000267.3(NF1):c.3500T>G (p.Leu1167Ter) rs786204253
NM_000267.3(NF1):c.3501A>C (p.Leu1167Phe) rs1555615008
NM_000267.3(NF1):c.3502G>C (p.Gly1168Arg) rs878853883
NM_000267.3(NF1):c.3506A>G (p.Tyr1169Cys) rs1555615014
NM_000267.3(NF1):c.3513G>A (p.Lys1171=) rs765438014
NM_000267.3(NF1):c.3517C>T (p.Leu1173Phe) rs1060500375
NM_000267.3(NF1):c.3519C>T (p.Leu1173=) rs1555615020
NM_000267.3(NF1):c.3521A>G (p.Gln1174Arg) rs1135402843
NM_000267.3(NF1):c.3525_3526del (p.Arg1176fs) rs1131691092
NM_000267.3(NF1):c.3530C>T (p.Ala1177Val)
NM_000267.3(NF1):c.3533C>A (p.Thr1178Lys) rs1555615025
NM_000267.3(NF1):c.3534A>G (p.Thr1178=) rs876658210
NM_000267.3(NF1):c.3538A>G (p.Met1180Val) rs786203658
NM_000267.3(NF1):c.3544G>T (p.Val1182Phe) rs1555615027
NM_000267.3(NF1):c.3548T>C (p.Leu1183Pro) rs1555615028
NM_000267.3(NF1):c.3549G>C (p.Leu1183=) rs1051842
NM_000267.3(NF1):c.354C>T (p.Cys118=) rs768777585
NM_000267.3(NF1):c.355C>A (p.His119Asn) rs1555606066
NM_000267.3(NF1):c.3564A>G (p.Gln1188=) rs777859444
NM_000267.3(NF1):c.3565C>T (p.Gln1189Ter) rs878853884
NM_000267.3(NF1):c.3567del (p.Gly1190fs) rs1060500271
NM_000267.3(NF1):c.3568G>A (p.Gly1190Ser)
NM_000267.3(NF1):c.3569G>A (p.Gly1190Asp) rs1555615032
NM_000267.3(NF1):c.3578T>C (p.Phe1193Ser) rs199474780
NM_000267.3(NF1):c.3586C>G (p.Leu1196Val) rs1555615039
NM_000267.3(NF1):c.3590C>G (p.Ala1197Gly) rs370820478
NM_000267.3(NF1):c.3590C>T (p.Ala1197Val) rs370820478
NM_000267.3(NF1):c.3591dup (p.Glu1198fs) rs1135402844
NM_000267.3(NF1):c.3595A>G (p.Thr1199Ala)
NM_000267.3(NF1):c.3596C>G (p.Thr1199Arg) rs1555615047
NM_000267.3(NF1):c.3596C>T (p.Thr1199Ile) rs1555615047
NM_000267.3(NF1):c.3598G>A (p.Val1200Ile)
NM_000267.3(NF1):c.3604G>T (p.Ala1202Ser) rs146641724
NM_000267.3(NF1):c.3607G>A (p.Asp1203Asn) rs1555615051
NM_000267.3(NF1):c.3610C>G (p.Arg1204Gly) rs199474732
NM_000267.3(NF1):c.3610C>T (p.Arg1204Trp) rs199474732
NM_000267.3(NF1):c.3614T>G (p.Phe1205Cys)
NM_000267.3(NF1):c.3619A>C (p.Arg1207=) rs202208560
NM_000267.3(NF1):c.3621A>G (p.Arg1207=) rs141390152
NM_000267.3(NF1):c.3623T>A (p.Leu1208Ter) rs1060500374
NM_000267.3(NF1):c.3623T>C (p.Leu1208Ser) rs1060500374
NM_000267.3(NF1):c.3625G>C (p.Val1209Leu) rs1458579232
NM_000267.3(NF1):c.3625G>T (p.Val1209Leu) rs1458579232
NM_000267.3(NF1):c.3632T>G (p.Leu1211Arg) rs1135402845
NM_000267.3(NF1):c.3636C>A (p.Val1212=) rs145126193
NM_000267.3(NF1):c.3639A>G (p.Thr1213=) rs1555615069
NM_000267.3(NF1):c.3639_3641del (p.Met1215del) rs1060500276
NM_000267.3(NF1):c.3641T>G (p.Met1214Arg) rs1567851416
NM_000267.3(NF1):c.3644T>C (p.Met1215Thr) rs1555615071
NM_000267.3(NF1):c.3644T>G (p.Met1215Arg) rs1555615071
NM_000267.3(NF1):c.3648T>A (p.Gly1216=) rs1060503897
NM_000267.3(NF1):c.3651T>G (p.Asp1217Glu) rs1135402846
NM_000267.3(NF1):c.3653A>G (p.Gln1218Arg) rs876659541
NM_000267.3(NF1):c.3656G>T (p.Gly1219Val) rs878853885
NM_000267.3(NF1):c.3656_3658del (p.Gly1219del) rs1555615077
NM_000267.3(NF1):c.3657dup (p.Glu1220fs) rs1567851445
NM_000267.3(NF1):c.3658G>A (p.Glu1220Lys)
NM_000267.3(NF1):c.3664C>G (p.Pro1222Ala) rs1555615088
NM_000267.3(NF1):c.3665del (p.Pro1222fs) rs867391752
NM_000267.3(NF1):c.3667A>G (p.Ile1223Val) rs1567851470
NM_000267.3(NF1):c.366C>T (p.His122=) rs138952888
NM_000267.3(NF1):c.3671C>T (p.Ala1224Val) rs1060500340
NM_000267.3(NF1):c.3672G>A (p.Ala1224=) rs151293900
NM_000267.3(NF1):c.3673A>G (p.Met1225Val)
NM_000267.3(NF1):c.367A>G (p.Thr123Ala) rs587781757
NM_000267.3(NF1):c.3683C>T (p.Ala1228Val) rs1060500315
NM_000267.3(NF1):c.3685A>G (p.Asn1229Asp) rs1555615102
NM_000267.3(NF1):c.3685A>T (p.Asn1229Tyr) rs1555615102
NM_000267.3(NF1):c.3686A>G (p.Asn1229Ser) rs140523180
NM_000267.3(NF1):c.3686del (p.Asn1229fs) rs1555615103
NM_000267.3(NF1):c.368C>A (p.Thr123Asn)
NM_000267.3(NF1):c.368C>T (p.Thr123Ile) rs878853886
NM_000267.3(NF1):c.3690G>T (p.Val1230=) rs183296277
NM_000267.3(NF1):c.3692_3708del (p.Val1231fs) rs1135402848
NM_000267.3(NF1):c.3694C>T (p.Pro1232Ser) rs1482085668
NM_000267.3(NF1):c.3695del (p.Pro1232fs) rs1567851532
NM_000267.3(NF1):c.369C>G (p.Thr123=) rs146691765
NM_000267.3(NF1):c.369C>T (p.Thr123=) rs146691765
NM_000267.3(NF1):c.3703C>T (p.Gln1235Ter) rs1555615109
NM_000267.3(NF1):c.3707G>A (p.Trp1236Ter) rs1252674239
NM_000267.3(NF1):c.3708+1G>A
NM_000267.3(NF1):c.3708+1G>T rs1420779915
NM_000267.3(NF1):c.3708+3A>T rs1555615114
NM_000267.3(NF1):c.3708+598_4772+16224del
NM_000267.3(NF1):c.3708+5G>C
NM_000267.3(NF1):c.3708+7G>A rs1555615115
NM_000267.3(NF1):c.3708+8A>G rs1173930586
NM_000267.3(NF1):c.3709-10T>C rs878853887
NM_000267.3(NF1):c.3709-1G>A rs1555615431
NM_000267.3(NF1):c.3709-266_7259-397delinsCAG
NM_000267.3(NF1):c.3709-2A>T
NM_000267.3(NF1):c.3709-3C>A rs1555615430
NM_000267.3(NF1):c.3709-8G>C rs767650263
NM_000267.3(NF1):c.3709-941_3974+2711del
NM_000267.3(NF1):c.370T>A (p.Cys124Ser) rs1555606074
NM_000267.3(NF1):c.370del (p.Cys124fs)
NM_000267.3(NF1):c.3712G>T (p.Glu1238Ter) rs1060500346
NM_000267.3(NF1):c.3716T>G (p.Leu1239Arg)
NM_000267.3(NF1):c.3721C>G (p.Arg1241Gly)
NM_000267.3(NF1):c.3721C>T (p.Arg1241Ter) rs137854562
NM_000267.3(NF1):c.3722G>A (p.Arg1241Gln) rs543387071
NM_000267.3(NF1):c.3722G>C (p.Arg1241Pro)
NM_000267.3(NF1):c.3726T>A (p.Val1242=) rs878853888
NM_000267.3(NF1):c.3727C>T (p.Leu1243=) rs750993436
NM_000267.3(NF1):c.3728T>C (p.Leu1243Pro) rs137854564
NM_000267.3(NF1):c.372T>C (p.Cys124=) rs1555606078
NM_000267.3(NF1):c.3732T>A (p.Val1244=) rs756653022
NM_000267.3(NF1):c.3732_3742del (p.Thr1245fs)
NM_000267.3(NF1):c.3732dup (p.Thr1245fs) rs1135402849
NM_000267.3(NF1):c.3736C>G (p.Leu1246Val) rs1567852501
NM_000267.3(NF1):c.3739_3742del (p.Phe1247fs) rs1064794276
NM_000267.3(NF1):c.373C>T (p.Arg125Cys) rs876659418
NM_000267.3(NF1):c.3748C>T (p.Arg1250Trp) rs1452005208
NM_000267.3(NF1):c.3749G>A (p.Arg1250Gln) rs199474765
NM_000267.3(NF1):c.3749G>T (p.Arg1250Leu)
NM_000267.3(NF1):c.374G>A (p.Arg125His) rs149003051
NM_000267.3(NF1):c.3752A>G (p.His1251Arg) rs1567852526
NM_000267.3(NF1):c.3753T>A (p.His1251Gln)
NM_000267.3(NF1):c.3756A>G (p.Leu1252=) rs1298630862
NM_000267.3(NF1):c.3759_3767del (p.Tyr1254_Leu1256del)
NM_000267.3(NF1):c.3763C>T (p.Gln1255Ter) rs1060500308
NM_000267.3(NF1):c.3764A>G (p.Gln1255Arg) rs1555615453
NM_000267.3(NF1):c.3765A>G (p.Gln1255=) rs766896025
NM_000267.3(NF1):c.3766C>T (p.Leu1256=) rs876659360
NM_000267.3(NF1):c.3767T>G (p.Leu1256Arg) rs1555615457
NM_000267.3(NF1):c.3772T>C (p.Trp1258Arg)
NM_000267.3(NF1):c.3773G>A (p.Trp1258Ter) rs1555615458
NM_000267.3(NF1):c.3778A>G (p.Met1260Val) rs1264981144
NM_000267.3(NF1):c.3779T>C (p.Met1260Thr) rs1555615463
NM_000267.3(NF1):c.3784del (p.Ser1262fs) rs1567852567
NM_000267.3(NF1):c.3787_3788insT (p.Lys1263fs) rs1555615467
NM_000267.3(NF1):c.3790G>A (p.Glu1264Lys) rs863224660
NM_000267.3(NF1):c.3791_3801del (p.Glu1264fs) rs1555615469
NM_000267.3(NF1):c.3811A>C (p.Met1271Leu) rs746583007
NM_000267.3(NF1):c.3811A>G (p.Met1271Val) rs746583007
NM_000267.3(NF1):c.3812T>C (p.Met1271Thr) rs876659801
NM_000267.3(NF1):c.3813G>C (p.Met1271Ile)
NM_000267.3(NF1):c.3815A>T (p.Gln1272Leu)
NM_000267.3(NF1):c.3818_3819CT[2] (p.Phe1275fs) rs1555615472
NM_000267.3(NF1):c.3826C>G (p.Arg1276Gly) rs199474742
NM_000267.3(NF1):c.3826C>T (p.Arg1276Ter) rs199474742
NM_000267.3(NF1):c.3827G>A (p.Arg1276Gln) rs137854556
NM_000267.3(NF1):c.3827G>C (p.Arg1276Pro) rs137854556
NM_000267.3(NF1):c.3830G>T (p.Gly1277Val) rs1555615480
NM_000267.3(NF1):c.3834C>G (p.Asn1278Lys) rs1135402850
NM_000267.3(NF1):c.3836G>A (p.Ser1279Asn) rs1170788683
NM_000267.3(NF1):c.3842C>G (p.Ala1281Gly) rs1060500341
NM_000267.3(NF1):c.3843C>T (p.Ala1281=) rs150426576
NM_000267.3(NF1):c.3849A>T (p.Lys1283Asn)
NM_000267.3(NF1):c.3852A>G (p.Ile1284Met)
NM_000267.3(NF1):c.3857C>T (p.Thr1286Ile) rs1060500306
NM_000267.3(NF1):c.3863G>A (p.Cys1288Tyr)
NM_000267.3(NF1):c.3864T>A (p.Cys1288Ter) rs1555615495
NM_000267.3(NF1):c.3867C>T (p.Phe1289=) rs138186428
NM_000267.3(NF1):c.386A>G (p.Gln129Arg) rs1060500250
NM_000267.3(NF1):c.3870+1G>T
NM_000267.3(NF1):c.3870+4T>C rs1555615499
NM_000267.3(NF1):c.3870G>C (p.Lys1290Asn) rs1555615497
NM_000267.3(NF1):c.3871-1G>A rs1567852753
NM_000267.3(NF1):c.3871-2A>G rs1131691077
NM_000267.3(NF1):c.3871-4G>C rs558421445
NM_000267.3(NF1):c.3871-5T>G
NM_000267.3(NF1):c.3875A>G (p.Tyr1292Cys) rs1060500243
NM_000267.3(NF1):c.387G>C (p.Gln129His) rs1390215440
NM_000267.3(NF1):c.3881C>T (p.Ala1294Val) rs878853889
NM_000267.3(NF1):c.3883A>G (p.Thr1295Ala) rs143836226
NM_000267.3(NF1):c.3891A>G (p.Leu1297=) rs753036396
NM_000267.3(NF1):c.3897del (p.Lys1299fs) rs878853890
NM_000267.3(NF1):c.389A>G (p.His130Arg) rs876660277
NM_000267.3(NF1):c.389A>T (p.His130Leu) rs876660277
NM_000267.3(NF1):c.3903G>A (p.Leu1301=) rs876660789
NM_000267.3(NF1):c.3906T>C (p.Asp1302=) rs549058591
NM_000267.3(NF1):c.3906T>G (p.Asp1302Glu) rs549058591
NM_000267.3(NF1):c.390T>A (p.His130Gln)
NM_000267.3(NF1):c.3911T>C (p.Leu1304Ser)
NM_000267.3(NF1):c.3911del (p.Leu1304fs) rs1555615549
NM_000267.3(NF1):c.3916C>A (p.Arg1306=) rs376576925
NM_000267.3(NF1):c.3916C>T (p.Arg1306Ter) rs376576925
NM_000267.3(NF1):c.3917G>A (p.Arg1306Gln) rs1306237220
NM_000267.3(NF1):c.3921T>G (p.Ile1307Met) rs876660805
NM_000267.3(NF1):c.3926T>A (p.Ile1309Asn) rs1567852796
NM_000267.3(NF1):c.392C>T (p.Ala131Val) rs1567817930
NM_000267.3(NF1):c.3932C>T (p.Ser1311Phe) rs587782894
NM_000267.3(NF1):c.3939T>C (p.Asp1313=) rs864622325
NM_000267.3(NF1):c.393A>C (p.Ala131=) rs761086521
NM_000267.3(NF1):c.3940T>C (p.Trp1314Arg)
NM_000267.3(NF1):c.3947A>G (p.His1316Arg) rs751023085
NM_000267.3(NF1):c.3949G>C (p.Val1317Leu) rs1555615560
NM_000267.3(NF1):c.3958G>A (p.Glu1320Lys) rs1273280025
NM_000267.3(NF1):c.3962T>C (p.Val1321Ala) rs1060500337
NM_000267.3(NF1):c.3964G>A (p.Asp1322Asn)
NM_000267.3(NF1):c.3964G>C (p.Asp1322His)
NM_000267.3(NF1):c.3970A>G (p.Thr1324Ala) rs189522993
NM_000267.3(NF1):c.3974+1G>A
NM_000267.3(NF1):c.3974+1G>C rs1567852849
NM_000267.3(NF1):c.3974+2T>C rs1555615567
NM_000267.3(NF1):c.3974+3T>G
NM_000267.3(NF1):c.3974+9T>A rs368586596
NM_000267.3(NF1):c.3974G>C (p.Arg1325Thr) rs863224447
NM_000267.3(NF1):c.3975-1922_4111-2448delinsTTTACTTAGGT
NM_000267.3(NF1):c.3975-1G>T rs1060500370
NM_000267.3(NF1):c.3975-2A>G rs864622431
NM_000267.3(NF1):c.3976T>A (p.Leu1326Ile) rs765957571
NM_000267.3(NF1):c.3978A>T (p.Leu1326Phe) rs876660506
NM_000267.3(NF1):c.397del (p.Glu133fs) rs878853891
NM_000267.3(NF1):c.3986C>A (p.Ser1329Ter) rs1060500319
NM_000267.3(NF1):c.3988G>A (p.Glu1330Lys) rs1483311407
NM_000267.3(NF1):c.3989A>C (p.Glu1330Ala) rs1256727206
NM_000267.3(NF1):c.3990G>A (p.Glu1330=) rs863224353
NM_000267.3(NF1):c.3991A>G (p.Ser1331Gly) rs1411796317
NM_000267.3(NF1):c.3992G>C (p.Ser1331Thr) rs1567858266
NM_000267.3(NF1):c.3998A>G (p.Glu1333Gly) rs200618072
NM_000267.3(NF1):c.4000G>A (p.Glu1334Lys) rs878853892
NM_000267.3(NF1):c.4000G>T (p.Glu1334Ter)
NM_000267.3(NF1):c.4000del (p.Glu1334fs) rs1135402851
NM_000267.3(NF1):c.4009C>T (p.Arg1337Trp) rs146306756
NM_000267.3(NF1):c.4010G>A (p.Arg1337Gln) rs1060500379
NM_000267.3(NF1):c.4012A>C (p.Asn1338His) rs864622202
NM_000267.3(NF1):c.4014_4016CCT[1] (p.Leu1340del) rs863224834
NM_000267.3(NF1):c.4016T>C (p.Leu1339Pro) rs1567858306
NM_000267.3(NF1):c.4020T>C (p.Leu1340=) rs863224354
NM_000267.3(NF1):c.4020del (p.Gln1341fs) rs1567858318
NM_000267.3(NF1):c.4021C>T (p.Gln1341Ter) rs137854559
NM_000267.3(NF1):c.4030G>T (p.Glu1344Ter) rs1555617328
NM_000267.3(NF1):c.403C>T (p.Arg135Trp) rs775191883
NM_000267.3(NF1):c.403_405del (p.Arg135del)
NM_000267.3(NF1):c.4043A>G (p.His1348Arg) rs786201844
NM_000267.3(NF1):c.4044del (p.His1348fs) rs1567858344
NM_000267.3(NF1):c.404G>A (p.Arg135Gln) rs1060500244
NM_000267.3(NF1):c.4051A>C (p.Ile1351Leu)
NM_000267.3(NF1):c.4054A>T (p.Ser1352Cys) rs1337343400
NM_000267.3(NF1):c.4055G>C (p.Ser1352Thr) rs876660908
NM_000267.3(NF1):c.4061C>A (p.Ser1354Tyr) rs1555617348
NM_000267.3(NF1):c.4062del (p.Ser1355fs)
NM_000267.3(NF1):c.4068_4069del (p.Glu1356fs)
NM_000267.3(NF1):c.4069T>C (p.Phe1357Leu) rs1207255352
NM_000267.3(NF1):c.4070del (p.Phe1357fs) rs1555617354
NM_000267.3(NF1):c.4071C>T (p.Phe1357=) rs747272290
NM_000267.3(NF1):c.4072C>T (p.Pro1358Ser) rs1555617359
NM_000267.3(NF1):c.4074_4075delinsAA (p.Pro1359Thr) rs1555617362
NM_000267.3(NF1):c.4076_4077insA (p.Gln1360fs) rs1555617364
NM_000267.3(NF1):c.4076del (p.Pro1359fs) rs1135402852
NM_000267.3(NF1):c.4077T>C (p.Pro1359=) rs1555617366
NM_000267.3(NF1):c.4084C>T (p.Arg1362Ter) rs137854560
NM_000267.3(NF1):c.4085G>A (p.Arg1362Gln) rs540108477
NM_000267.3(NF1):c.4085G>T (p.Arg1362Leu)
NM_000267.3(NF1):c.4095C>T (p.Cys1365=) rs1060503922
NM_000267.3(NF1):c.4095_4096insTG (p.His1366fs) rs267606608
NM_000267.3(NF1):c.4098C>G (p.His1366Gln) rs1555617377
NM_000267.3(NF1):c.4108del (p.Gln1370fs)
NM_000267.3(NF1):c.4109A>C (p.Gln1370Pro) rs1135402853
NM_000267.3(NF1):c.4110+10C>T rs776277455
NM_000267.3(NF1):c.4110+1G>A rs1555617383
NM_000267.3(NF1):c.4110+1G>T rs1555617383
NM_000267.3(NF1):c.4110+3A>G rs774669878
NM_000267.3(NF1):c.4110+4T>C rs587781700
NM_000267.3(NF1):c.4110+9A>T rs1555617387
NM_000267.3(NF1):c.4110G>C (p.Gln1370His) rs1135402854
NM_000267.3(NF1):c.4111-1G>A rs1555618492
NM_000267.3(NF1):c.4111-2A>G rs1555618489
NM_000267.3(NF1):c.4111-8_4111-6del rs751729752
NM_000267.3(NF1):c.4120C>T (p.Gln1374Ter) rs1555618494
NM_000267.3(NF1):c.4122G>T (p.Gln1374His) rs775206746
NM_000267.3(NF1):c.4124G>A (p.Arg1375His) rs368685980
NM_000267.3(NF1):c.4125T>A (p.Arg1375=) rs1555618496
NM_000267.3(NF1):c.4127T>A (p.Phe1376Tyr) rs768223279
NM_000267.3(NF1):c.412G>C (p.Ala138Pro)
NM_000267.3(NF1):c.4130C>T (p.Pro1377Leu) rs864622299
NM_000267.3(NF1):c.4134G>T (p.Gln1378His) rs1355988609
NM_000267.3(NF1):c.4138A>G (p.Ser1380Gly)
NM_000267.3(NF1):c.4138A>T (p.Ser1380Cys) rs1060500310
NM_000267.3(NF1):c.4139G>C (p.Ser1380Thr) rs1060500249
NM_000267.3(NF1):c.4139G>T (p.Ser1380Ile) rs1060500249
NM_000267.3(NF1):c.4143C>T (p.Ile1381=) rs864622406
NM_000267.3(NF1):c.4144G>A (p.Gly1382Ser) rs138227618
NM_000267.3(NF1):c.4144G>C (p.Gly1382Arg)
NM_000267.3(NF1):c.4146T>C (p.Gly1382=) rs761772247
NM_000267.3(NF1):c.4148C>T (p.Ala1383Val) rs1060500257
NM_000267.3(NF1):c.4149A>G (p.Ala1383=) rs376825167
NM_000267.3(NF1):c.4154G>T (p.Gly1385Val) rs1555618505
NM_000267.3(NF1):c.4156A>G (p.Ser1386Gly) rs587781755
NM_000267.3(NF1):c.4162A>G (p.Met1388Val) rs1060500369
NM_000267.3(NF1):c.4163T>C (p.Met1388Thr) rs1555618508
NM_000267.3(NF1):c.4164G>C (p.Met1388Ile) rs786201895
NM_000267.3(NF1):c.4166del (p.Phe1389fs) rs1555618511
NM_000267.3(NF1):c.4167C>G (p.Phe1389Leu) rs750213850
NM_000267.3(NF1):c.4167C>T (p.Phe1389=) rs750213850
NM_000267.3(NF1):c.4168C>G (p.Leu1390Val) rs199474789
NM_000267.3(NF1):c.4168C>T (p.Leu1390Phe) rs199474789
NM_000267.3(NF1):c.4171A>G (p.Arg1391Gly) rs1555618515
NM_000267.3(NF1):c.4172G>C (p.Arg1391Thr) rs1555618516
NM_000267.3(NF1):c.4173A>C (p.Arg1391Ser)
NM_000267.3(NF1):c.4173A>T (p.Arg1391Ser) rs137854554
NM_000267.3(NF1):c.417T>C (p.Ser139=) rs762434870
NM_000267.3(NF1):c.4180A>C (p.Asn1394His) rs1555618518
NM_000267.3(NF1):c.4181A>G (p.Asn1394Ser)
NM_000267.3(NF1):c.4182T>A (p.Asn1394Lys)
NM_000267.3(NF1):c.4188C>T (p.Ala1396=) rs1555618524
NM_000267.3(NF1):c.4189A>G (p.Ile1397Val) rs369345045
NM_000267.3(NF1):c.4191del (p.Ile1397fs) rs1135402855
NM_000267.3(NF1):c.4193T>A (p.Val1398Asp) rs1555618528
NM_000267.3(NF1):c.4194C>T (p.Val1398=) rs886038395
NM_000267.3(NF1):c.4195T>C (p.Ser1399Pro) rs1555618533
NM_000267.3(NF1):c.4199C>T (p.Pro1400Leu) rs753997885
NM_000267.3(NF1):c.4199del (p.Pro1400fs) rs1567861977
NM_000267.3(NF1):c.4200G>A (p.Pro1400=) rs201648604
NM_000267.3(NF1):c.4200G>T (p.Pro1400=) rs201648604
NM_000267.3(NF1):c.4201T>C (p.Tyr1401His)
NM_000267.3(NF1):c.4206A>G (p.Glu1402=) rs17886566
NM_000267.3(NF1):c.4209A>T (p.Ala1403=) rs753182376
NM_000267.3(NF1):c.4211G>A (p.Gly1404Glu) rs1555618547
NM_000267.3(NF1):c.4221T>C (p.Asp1407=) rs1555618550
NM_000267.3(NF1):c.4227G>A (p.Lys1409=) rs373086572
NM_000267.3(NF1):c.4227G>T (p.Lys1409Asn) rs373086572
NM_000267.3(NF1):c.4230_4231dup (p.Pro1411fs) rs1555618552
NM_000267.3(NF1):c.4233A>C (p.Pro1411=) rs864622492
NM_000267.3(NF1):c.4242C>T (p.Ile1414=) rs779865988
NM_000267.3(NF1):c.4243G>A (p.Glu1415Lys) rs876660428
NM_000267.3(NF1):c.4243G>T (p.Glu1415Ter) rs876660428
NM_000267.3(NF1):c.4246A>T (p.Arg1416Trp) rs1555618558
NM_000267.3(NF1):c.4247G>A (p.Arg1416Lys) rs1567862061
NM_000267.3(NF1):c.4248G>A (p.Arg1416=) rs1060503896
NM_000267.3(NF1):c.4249G>T (p.Gly1417Cys) rs1555618559
NM_000267.3(NF1):c.4250G>T (p.Gly1417Val)
NM_000267.3(NF1):c.4253T>A (p.Leu1418Ter) rs1567862071
NM_000267.3(NF1):c.4255A>G (p.Lys1419Glu) rs199474790
NM_000267.3(NF1):c.4258T>A (p.Leu1420Ile)
NM_000267.3(NF1):c.4261del (p.Met1421fs) rs1135402856
NM_000267.3(NF1):c.4265C>T (p.Ser1422Leu) rs1555618566
NM_000267.3(NF1):c.4267A>C (p.Lys1423Gln) rs137854550
NM_000267.3(NF1):c.4267A>G (p.Lys1423Glu) rs137854550
NM_000267.3(NF1):c.4269+1G>A rs1555618572
NM_000267.3(NF1):c.4269+1G>T
NM_000267.3(NF1):c.4269+1del rs1567862095
NM_000267.3(NF1):c.4269+2T>C rs786204207
NM_000267.3(NF1):c.4269+8A>G rs773883353
NM_000267.3(NF1):c.4269G>A (p.Lys1423=) rs199474750
NM_000267.3(NF1):c.4269G>C (p.Lys1423Asn) rs199474750
NM_000267.3(NF1):c.4270-1G>A rs1418965797
NM_000267.3(NF1):c.4270-2A>C
NM_000267.3(NF1):c.4270-2A>G rs1555618634
NM_000267.3(NF1):c.4270A>C (p.Ile1424Leu) rs1555618637
NM_000267.3(NF1):c.4270A>T (p.Ile1424Leu) rs1555618637
NM_000267.3(NF1):c.4271T>G (p.Ile1424Arg)
NM_000267.3(NF1):c.4276C>G (p.Gln1426Glu)
NM_000267.3(NF1):c.4276C>T (p.Gln1426Ter) rs1135402857
NM_000267.3(NF1):c.4277A>C (p.Gln1426Pro) rs786204157
NM_000267.3(NF1):c.4277A>G (p.Gln1426Arg) rs786204157
NM_000267.3(NF1):c.4278G>C (p.Gln1426His) rs876660206
NM_000267.3(NF1):c.4281T>G (p.Ser1427Arg) rs1555618644
NM_000267.3(NF1):c.4288A>G (p.Asn1430Asp) rs1567862283
NM_000267.3(NF1):c.4289A>C (p.Asn1430Thr) rs199474754
NM_000267.3(NF1):c.4289A>G (p.Asn1430Ser) rs199474754
NM_000267.3(NF1):c.4289A>T (p.Asn1430Ile) rs199474754
NM_000267.3(NF1):c.4292A>G (p.His1431Arg) rs1567862291
NM_000267.3(NF1):c.4294G>A (p.Val1432Ile) rs199474755
NM_000267.3(NF1):c.4294G>T (p.Val1432Phe) rs199474755
NM_000267.3(NF1):c.4297C>G (p.Leu1433Val) rs1408832954
NM_000267.3(NF1):c.4299C>T (p.Leu1433=) rs864622298
NM_000267.3(NF1):c.4306A>C (p.Lys1436Gln)
NM_000267.3(NF1):c.4306A>G (p.Lys1436Glu) rs878853893
NM_000267.3(NF1):c.4306_4308del (p.Lys1436del) rs1555618653
NM_000267.3(NF1):c.4308A>C (p.Lys1436Asn) rs1555618658
NM_000267.3(NF1):c.4309G>A (p.Glu1437Lys) rs1135402858
NM_000267.3(NF1):c.4309_4311GAA[1] (p.Glu1438del) rs267606607
NM_000267.3(NF1):c.4310A>G (p.Glu1437Gly) rs878853894
NM_000267.3(NF1):c.4312G>T (p.Glu1438Ter)
NM_000267.3(NF1):c.4315C>T (p.His1439Tyr) rs377295676
NM_000267.3(NF1):c.4316A>G (p.His1439Arg)
NM_000267.3(NF1):c.4316A>T (p.His1439Leu) rs748990989
NM_000267.3(NF1):c.4316_4317AT[3] (p.Met1440fs) rs1135402859
NM_000267.3(NF1):c.4318A>T (p.Met1440Leu) rs1555618675
NM_000267.3(NF1):c.4319T>A (p.Met1440Lys) rs754639587
NM_000267.3(NF1):c.4319T>C (p.Met1440Thr) rs754639587
NM_000267.3(NF1):c.4320G>A (p.Met1440Ile) rs1555618677
NM_000267.3(NF1):c.4321C>T (p.Arg1441Trp) rs876658127
NM_000267.3(NF1):c.4322G>A (p.Arg1441Gln) rs370852681
NM_000267.3(NF1):c.4331A>G (p.Asn1444Ser) rs786202492
NM_000267.3(NF1):c.4333G>T (p.Asp1445Tyr) rs878853895
NM_000267.3(NF1):c.433C>T (p.Leu145Phe) rs786203460
NM_000267.3(NF1):c.4340T>G (p.Val1447Gly) rs1135402860
NM_000267.3(NF1):c.4341del (p.Ser1449fs)
NM_000267.3(NF1):c.4346G>A (p.Ser1449Asn) rs876660093
NM_000267.3(NF1):c.4349A>G (p.Asn1450Ser) rs876658250
NM_000267.3(NF1):c.4354G>A (p.Asp1452Asn) rs587781790
NM_000267.3(NF1):c.4358C>T (p.Ala1453Val) rs587781553
NM_000267.3(NF1):c.4363C>T (p.Arg1455Cys) rs771420960
NM_000267.3(NF1):c.4367+1G>A
NM_000267.3(NF1):c.4367+1G>C rs773151680
NM_000267.3(NF1):c.4367+2T>C rs1555618693
NM_000267.3(NF1):c.4367+6T>A rs1567862378
NM_000267.3(NF1):c.4367G>C (p.Arg1456Thr) rs1060500293
NM_000267.3(NF1):c.4368-391_4515-122delins105
NM_000267.3(NF1):c.4368-8T>C rs1555618801
NM_000267.3(NF1):c.4368-?_5943+?del
NM_000267.3(NF1):c.4368G>A (p.Arg1456=)
NM_000267.3(NF1):c.4370T>G (p.Phe1457Cys)
NM_000267.3(NF1):c.4371T>C (p.Phe1457=) rs1310523976
NM_000267.3(NF1):c.4375del (p.Asp1460fs) rs1555618806
NM_000267.3(NF1):c.4379A>G (p.Asp1460Gly)
NM_000267.3(NF1):c.4381A>G (p.Ile1461Val) rs1060500362
NM_000267.3(NF1):c.4382T>C (p.Ile1461Thr) rs746994734
NM_000267.3(NF1):c.4383A>G (p.Ile1461Met) rs876658776
NM_000267.3(NF1):c.4384G>A (p.Ala1462Thr) rs1555618808
NM_000267.3(NF1):c.4391A>G (p.Asp1464Gly)
NM_000267.3(NF1):c.4392T>C (p.Asp1464=) rs186556778
NM_000267.3(NF1):c.4393del (p.Cys1465fs) rs1567862860
NM_000267.3(NF1):c.4396C>T (p.Pro1466Ser) rs1265291141
NM_000267.3(NF1):c.4397del (p.Pro1466fs) rs1135402861
NM_000267.3(NF1):c.4399A>C (p.Thr1467Pro)
NM_000267.3(NF1):c.4399A>G (p.Thr1467Ala) rs876660162
NM_000267.3(NF1):c.4402A>G (p.Ser1468Gly) rs199474743
NM_000267.3(NF1):c.4409C>T (p.Ala1470Val) rs876658334
NM_000267.3(NF1):c.4415A>G (p.Asn1472Ser)
NM_000267.3(NF1):c.4416T>C (p.Asn1472=) rs1060503888
NM_000267.3(NF1):c.4418del (p.His1473fs)
NM_000267.3(NF1):c.4419_4420del (p.His1473fs) rs1555618821
NM_000267.3(NF1):c.4420dup (p.Ser1474fs) rs878853896
NM_000267.3(NF1):c.4426T>C (p.Ser1476Pro) rs763266925
NM_000267.3(NF1):c.4427C>T (p.Ser1476Phe)
NM_000267.3(NF1):c.4432A>G (p.Ile1478Val) rs764654925
NM_000267.3(NF1):c.4432delinsTG (p.Ile1478fs)
NM_000267.3(NF1):c.4435A>G (p.Ser1479Gly) rs1135402862
NM_000267.3(NF1):c.4437T>C (p.Ser1479=) rs775018971
NM_000267.3(NF1):c.4440C>T (p.Asp1480=) rs577394398
NM_000267.3(NF1):c.4441G>A (p.Gly1481Ser) rs876659607
NM_000267.3(NF1):c.4444A>C (p.Asn1482His) rs1555618837
NM_000267.3(NF1):c.4445A>G (p.Asn1482Ser) rs587781445
NM_000267.3(NF1):c.4453_4454delinsTT (p.Ala1485Phe) rs1567862930
NM_000267.3(NF1):c.4457T>G (p.Leu1486Ter) rs1135402863
NM_000267.3(NF1):c.445A>G (p.Asn149Asp)
NM_000267.3(NF1):c.4460A>G (p.His1487Arg) rs1254695587
NM_000267.3(NF1):c.4462C>T (p.Arg1488Cys) rs864622348
NM_000267.3(NF1):c.4463G>A (p.Arg1488His) rs546073780
NM_000267.3(NF1):c.4463del (p.Arg1488fs) rs1567862956
NM_000267.3(NF1):c.4466T>C (p.Leu1489Pro)
NM_000267.3(NF1):c.4466_4480del (p.Leu1489_Asn1493del) rs1555618846
NM_000267.3(NF1):c.4467A>G (p.Leu1489=) rs876660089
NM_000267.3(NF1):c.4469T>G (p.Leu1490Arg) rs1135402864
NM_000267.3(NF1):c.4473G>C (p.Trp1491Cys) rs878853897
NM_000267.3(NF1):c.4475A>G (p.Asn1492Ser) rs113205862
NM_000267.3(NF1):c.4477A>G (p.Asn1493Asp) rs864622404
NM_000267.3(NF1):c.4480C>T (p.Gln1494Ter) rs1567862991
NM_000267.3(NF1):c.4481A>G (p.Gln1494Arg) rs1135402865
NM_000267.3(NF1):c.4483G>T (p.Glu1495Ter) rs786203390
NM_000267.3(NF1):c.4485G>C (p.Glu1495Asp) rs1567863000
NM_000267.3(NF1):c.4492G>A (p.Gly1498Arg) rs1060500380
NM_000267.3(NF1):c.4493G>A (p.Gly1498Glu) rs1567863004
NM_000267.3(NF1):c.4495C>T (p.Gln1499Ter) rs1060500242
NM_000267.3(NF1):c.4497G>A (p.Gln1499=) rs1555618859
NM_000267.3(NF1):c.449del (p.Phe150fs) rs1567817974
NM_000267.3(NF1):c.4508_4509delinsAA (p.Ser1503Lys) rs1555618860
NM_000267.3(NF1):c.450C>T (p.Phe150=) rs202142624
NM_000267.3(NF1):c.4511dup (p.Asn1504fs) rs1555618862
NM_000267.3(NF1):c.4514+11C>G rs190614908
NM_000267.3(NF1):c.4514+1G>A rs1279529138
NM_000267.3(NF1):c.4514+1G>T rs1279529138
NM_000267.3(NF1):c.4514+3A>G rs1060500246
NM_000267.3(NF1):c.4514+4A>G rs1555618863
NM_000267.3(NF1):c.4514+9delT rs772339679
NM_000267.3(NF1):c.4515-19A>G rs1555618994
NM_000267.3(NF1):c.4515-2A>G rs1555618996
NM_000267.3(NF1):c.4515-343_8314+3380del
NM_000267.3(NF1):c.4515-5T>C rs772759508
NM_000267.3(NF1):c.4518del (p.His1507fs)
NM_000267.3(NF1):c.451A>C (p.Asn151His) rs769391944
NM_000267.3(NF1):c.4523A>G (p.Lys1508Arg) rs1555619001
NM_000267.3(NF1):c.452A>G (p.Asn151Ser) rs1567817981
NM_000267.3(NF1):c.4530T>C (p.Val1510=) rs773315342
NM_000267.3(NF1):c.4535del (p.Arg1512fs) rs1060500292
NM_000267.3(NF1):c.4537C>T (p.Arg1513Ter) rs760703505
NM_000267.3(NF1):c.4538G>A (p.Arg1513Gln) rs867955218
NM_000267.3(NF1):c.4553T>C (p.Met1518Thr) rs1567863578
NM_000267.3(NF1):c.4554_4567dup (p.Ala1523fs) rs1567863580
NM_000267.3(NF1):c.4555del (p.Ala1519fs)
NM_000267.3(NF1):c.4559_4573del (p.Thr1520_Leu1525delinsMet) rs1064792912
NM_000267.3(NF1):c.4563T>C (p.Leu1521=) rs1555619012
NM_000267.3(NF1):c.4568C>A (p.Ala1523Glu) rs1555619015
NM_000267.3(NF1):c.4568del (p.Ala1523fs)
NM_000267.3(NF1):c.4569A>G (p.Ala1523=) rs781741727
NM_000267.3(NF1):c.456A>C (p.Ala152=) rs377481833
NM_000267.3(NF1):c.456A>G (p.Ala152=) rs377481833
NM_000267.3(NF1):c.4572C>G (p.Tyr1524Ter) rs754023358
NM_000267.3(NF1):c.4572C>T (p.Tyr1524=) rs754023358
NM_000267.3(NF1):c.4582C>G (p.Pro1528Ala) rs1555619025
NM_000267.3(NF1):c.4584A>G (p.Pro1528=) rs1305841472
NM_000267.3(NF1):c.4592A>G (p.Lys1531Arg) rs1172780277
NM_000267.3(NF1):c.4594C>G (p.Pro1532Ala) rs1033427343
NM_000267.3(NF1):c.4594C>T (p.Pro1532Ser) rs1033427343
NM_000267.3(NF1):c.4595del (p.Pro1532fs) rs1555619029
NM_000267.3(NF1):c.4597G>A (p.Val1533Met) rs1319687326
NM_000267.3(NF1):c.4600del (p.Ala1534fs) rs1567863614
NM_000267.3(NF1):c.4602A>C (p.Ala1534=) rs786201457
NM_000267.3(NF1):c.4605T>C (p.Asp1535=) rs763874870
NM_000267.3(NF1):c.4606dup (p.Thr1536fs) rs1555619033
NM_000267.3(NF1):c.4607C>G (p.Thr1536Arg) rs876660065
NM_000267.3(NF1):c.4608A>G (p.Thr1536=) rs876658990
NM_000267.3(NF1):c.4609C>T (p.His1537Tyr) rs1468638747
NM_000267.3(NF1):c.4614G>A (p.Trp1538Ter) rs137854555
NM_000267.3(NF1):c.4619G>A (p.Ser1540Asn) rs751414513
NM_000267.3(NF1):c.4621del (p.Asn1542fs) rs1555619041
NM_000267.3(NF1):c.4627C>T (p.Leu1543Phe)
NM_000267.3(NF1):c.4632C>T (p.Thr1544=) rs1555619045
NM_000267.3(NF1):c.4637C>T (p.Ser1546Leu) rs1555619051
NM_000267.3(NF1):c.4640del (p.Lys1547fs) rs1555619052
NM_000267.3(NF1):c.4640dup (p.Phe1548fs) rs1555619052
NM_000267.3(NF1):c.4641G>A (p.Lys1547=) rs1424931932
NM_000267.3(NF1):c.4648G>T (p.Glu1550Ter) rs1567863648
NM_000267.3(NF1):c.464G>A (p.Ser155Asn) rs1555606113
NM_000267.3(NF1):c.4661+11A>G rs368649260
NM_000267.3(NF1):c.4661+1660_4773-8837del
NM_000267.3(NF1):c.4661+1G>A rs1555619056
NM_000267.3(NF1):c.4661+1G>C rs1555619056
NM_000267.3(NF1):c.4661+3A>G rs781147524
NM_000267.3(NF1):c.4661+7T>C rs864622178
NM_000267.3(NF1):c.4662-1076_4772+1300delins260
NM_000267.3(NF1):c.4662-3T>C rs892441625
NM_000267.3(NF1):c.4662-5T>C rs1060503903
NM_000267.3(NF1):c.4666C>T (p.Gln1556Ter) rs797044942
NM_000267.3(NF1):c.466C>T (p.Arg156Cys) rs755890242
NM_000267.3(NF1):c.4673A>C (p.His1558Pro)
NM_000267.3(NF1):c.4675_4682delinsAAAAAGG (p.Glu1559fs)
NM_000267.3(NF1):c.467G>A (p.Arg156His) rs754096545
NM_000267.3(NF1):c.467G>T (p.Arg156Leu) rs754096545
NM_000267.3(NF1):c.4680dup (p.Glu1561fs) rs1567864972
NM_000267.3(NF1):c.4681_4682del (p.Glu1561fs) rs1555619395
NM_000267.3(NF1):c.4684_4685dup (p.Phe1563fs) rs1555619397
NM_000267.3(NF1):c.4686A>G (p.Glu1562=) rs144091165
NM_000267.3(NF1):c.4686del (p.Glu1562fs) rs1567864983
NM_000267.3(NF1):c.468C>T (p.Arg156=) rs779074793
NM_000267.3(NF1):c.4693G>A (p.Ala1565Thr) rs767438491
NM_000267.3(NF1):c.4693G>T (p.Ala1565Ser) rs767438491
NM_000267.3(NF1):c.4703C>T (p.Thr1568Met) rs185660700
NM_000267.3(NF1):c.4705T>G (p.Leu1569Val) rs1567865010
NM_000267.3(NF1):c.4707A>C (p.Leu1569Phe) rs1567865021
NM_000267.3(NF1):c.4707_4714del (p.Leu1569fs) rs1555619402
NM_000267.3(NF1):c.4718A>G (p.Tyr1573Cys) rs1060500303
NM_000267.3(NF1):c.4720C>T (p.Gln1574Ter)
NM_000267.3(NF1):c.4720del (p.Gln1574fs) rs1555619404
NM_000267.3(NF1):c.4724C>G (p.Ala1575Gly) rs1567865042
NM_000267.3(NF1):c.4730C>A (p.Thr1577Asn) rs753453385
NM_000267.3(NF1):c.4738G>A (p.Ala1580Thr) rs754651519
NM_000267.3(NF1):c.4740T>C (p.Ala1580=) rs148662566
NM_000267.3(NF1):c.4741G>A (p.Gly1581Arg) rs878853898
NM_000267.3(NF1):c.4750A>G (p.Ile1584Val) rs199474766
NM_000267.3(NF1):c.4755_4759del (p.Phe1585fs) rs1555619413
NM_000267.3(NF1):c.4756del (p.Tyr1586fs) rs876658492
NM_000267.3(NF1):c.4758T>A (p.Tyr1586Ter) rs1555619416
NM_000267.3(NF1):c.475A>G (p.Thr159Ala) rs371192107
NM_000267.3(NF1):c.4760A>G (p.Tyr1587Cys) rs1555619417
NM_000267.3(NF1):c.4768C>A (p.Arg1590=)
NM_000267.3(NF1):c.4768C>T (p.Arg1590Trp) rs1060500316
NM_000267.3(NF1):c.4769G>A (p.Arg1590Gln) rs876659197
NM_000267.3(NF1):c.4769_4771delinsAC (p.Arg1590fs)
NM_000267.3(NF1):c.4771A>C (p.Arg1591=) rs755137259
NM_000267.3(NF1):c.4772+1G>A rs1085307819
NM_000267.3(NF1):c.4772+1G>T rs1085307819
NM_000267.3(NF1):c.4772+5G>C rs786201306
NM_000267.3(NF1):c.4773-10T>G rs878853899
NM_000267.3(NF1):c.4773-1G>A rs1057518326
NM_000267.3(NF1):c.4773-1G>C rs1057518326
NM_000267.3(NF1):c.4773-2116_7127-1817delinsAGTTACC
NM_000267.3(NF1):c.4773-23713_7907+14del
NM_000267.3(NF1):c.4773-3T>C rs372460369
NM_000267.3(NF1):c.4773G>A (p.Arg1591=) rs1555533268
NM_000267.3(NF1):c.4773G>T (p.Arg1591Ser) rs1555533268
NM_000267.3(NF1):c.4783G>A (p.Gly1595Ser) rs1555533271
NM_000267.3(NF1):c.4784G>A (p.Gly1595Asp)
NM_000267.3(NF1):c.4786_4790delinsATATCAG (p.Gln1596fs)
NM_000267.3(NF1):c.4788A>G (p.Gln1596=) rs150309802
NM_000267.3(NF1):c.479+1G>A rs1555606137
NM_000267.3(NF1):c.479+5G>A rs1567818033
NM_000267.3(NF1):c.479+7G>A rs778398666
NM_000267.3(NF1):c.4797T>C (p.Gly1599=) rs864622747
NM_000267.3(NF1):c.479G>C (p.Arg160Thr) rs199474752
NM_000267.3(NF1):c.480-134_8315-6206del
NM_000267.3(NF1):c.480-2989_586+3445del
NM_000267.3(NF1):c.480-5T>C rs1555607069
NM_000267.3(NF1):c.4806G>A (p.Leu1602=) rs1555533279
NM_000267.3(NF1):c.4807A>G (p.Ile1603Val) rs1555533280
NM_000267.3(NF1):c.4808_4809TA[3] (p.His1605fs) rs1555533284
NM_000267.3(NF1):c.4809dup (p.Tyr1604fs)
NM_000267.3(NF1):c.480G>A (p.Arg160=) rs1555607071
NM_000267.3(NF1):c.480delG
NM_000267.3(NF1):c.4819T>C (p.Leu1607=) rs10512435
NM_000267.3(NF1):c.4823T>C (p.Leu1608Pro) rs1555533288
NM_000267.3(NF1):c.4824G>A (p.Leu1608=) rs368638966
NM_000267.3(NF1):c.4829del (p.Thr1609_Leu1610insTer) rs1555533290
NM_000267.3(NF1):c.4834C>A (p.Pro1612Thr) rs1567611255
NM_000267.3(NF1):c.4836A>G (p.Pro1612=) rs876658422
NM_000267.3(NF1):c.4838A>G (p.Tyr1613Cys)
NM_000267.3(NF1):c.4842T>G (p.Tyr1614Ter) rs948982039
NM_000267.3(NF1):c.484C>A (p.Gln162Lys) rs1555607073
NM_000267.3(NF1):c.484C>G (p.Gln162Glu) rs1555607073
NM_000267.3(NF1):c.484C>T (p.Gln162Ter) rs1555607073
NM_000267.3(NF1):c.4851A>G (p.Pro1617=)
NM_000267.3(NF1):c.4854T>A (p.Tyr1618Ter) rs1555533297
NM_000267.3(NF1):c.4859T>C (p.Ile1620Thr) rs1567611281
NM_000267.3(NF1):c.4864G>A (p.Val1622Met) rs1060500381
NM_000267.3(NF1):c.4866G>A (p.Val1622=) rs17880521
NM_000267.3(NF1):c.4866G>T (p.Val1622=) rs17880521
NM_000267.3(NF1):c.4867G>A (p.Asp1623Asn)
NM_000267.3(NF1):c.4867G>C (p.Asp1623His) rs1131691123
NM_000267.3(NF1):c.4869C>T (p.Asp1623=) rs1555533304
NM_000267.3(NF1):c.4871T>G (p.Leu1624Arg) rs1555533305
NM_000267.3(NF1):c.4877A>C (p.His1626Pro) rs1555533307
NM_000267.3(NF1):c.4879A>G (p.Thr1627Ala) rs770558820
NM_000267.3(NF1):c.4880C>T (p.Thr1627Ile) rs376655102
NM_000267.3(NF1):c.4881C>T (p.Thr1627=) rs759291615
NM_000267.3(NF1):c.4882G>A (p.Gly1628Arg) rs770124316
NM_000267.3(NF1):c.4886C>T (p.Pro1629Leu)
NM_000267.3(NF1):c.4886_4891del (p.Pro1629_Asn1631delinsHis) rs1567611339
NM_000267.3(NF1):c.4888A>C (p.Ser1630Arg) rs1555533314
NM_000267.3(NF1):c.4888A>T (p.Ser1630Cys) rs1555533314
NM_000267.3(NF1):c.4894C>T (p.Arg1632Cys) rs876659922
NM_000267.3(NF1):c.4894_4901del (p.Arg1632fs)
NM_000267.3(NF1):c.4895G>T (p.Arg1632Leu) rs763413441
NM_000267.3(NF1):c.4903del (p.Thr1635fs) rs1567611351
NM_000267.3(NF1):c.4904_4905del (p.Thr1635fs) rs1555533323
NM_000267.3(NF1):c.4912_4913CT[1] (p.Lys1640fs) rs1085307459
NM_000267.3(NF1):c.4914C>G (p.Leu1638=) rs863224355
NM_000267.3(NF1):c.4920_4922delinsCTTA (p.Lys1640fs) rs1555533326
NM_000267.3(NF1):c.4921T>C (p.Trp1641Arg) rs1555533328
NM_000267.3(NF1):c.4922G>A (p.Trp1641Ter) rs1567611375
NM_000267.3(NF1):c.4926del (p.Phe1642fs) rs1567611380
NM_000267.3(NF1):c.4935del (p.Pro1646fs) rs1135402867
NM_000267.3(NF1):c.4935dup (p.Pro1646fs) rs1135402867
NM_000267.3(NF1):c.493A>G (p.Thr165Ala) rs786203186
NM_000267.3(NF1):c.4941C>G (p.Gly1647=) rs751603479
NM_000267.3(NF1):c.4941_7127-2901del
NM_000267.3(NF1):c.4944T>C (p.Phe1648=) rs761807609
NM_000267.3(NF1):c.494C>G (p.Thr165Ser) rs876660009
NM_000267.3(NF1):c.4950C>A (p.Tyr1650Ter) rs1060500255
NM_000267.3(NF1):c.4950C>T (p.Tyr1650=) rs1060500255
NM_000267.3(NF1):c.4950_4954dup (p.Asn1652fs) rs1555533336
NM_000267.3(NF1):c.4951G>A (p.Asp1651Asn) rs1483541195
NM_000267.3(NF1):c.4952A>T (p.Asp1651Val) rs1555533338
NM_000267.3(NF1):c.4955A>G (p.Asn1652Ser) rs1201910133
NM_000267.3(NF1):c.4956C>T (p.Asn1652=) rs767699634
NM_000267.3(NF1):c.4957G>A (p.Val1653Ile) rs1555533342
NM_000267.3(NF1):c.495_498TGTT[1] (p.Cys167fs) rs786201874
NM_000267.3(NF1):c.4962C>T (p.Ser1654=) rs17878418
NM_000267.3(NF1):c.4963G>A (p.Ala1655Thr) rs756450772
NM_000267.3(NF1):c.4967T>A (p.Val1656Asp) rs1060500384
NM_000267.3(NF1):c.4967_4972TCTATA[1] (p.Ile1658_Tyr1659del) rs1135402868
NM_000267.3(NF1):c.496_497del (p.Val166fs) rs1135402788
NM_000267.3(NF1):c.4970A>G (p.Tyr1657Cys) rs1555533347
NM_000267.3(NF1):c.4972A>G (p.Ile1658Val) rs147327414
NM_000267.3(NF1):c.4976_4978delinsT (p.Tyr1659fs) rs1567611457
NM_000267.3(NF1):c.4977T>C (p.Tyr1659=) rs1555533351
NM_000267.3(NF1):c.4981T>C (p.Cys1661Arg)
NM_000267.3(NF1):c.4986C>G (p.Asn1662Lys)
NM_000267.3(NF1):c.4986C>T (p.Asn1662=) rs140994965
NM_000267.3(NF1):c.4992G>A (p.Trp1664Ter) rs1555533354
NM_000267.3(NF1):c.4995C>T (p.Val1665=) rs1315128684
NM_000267.3(NF1):c.4999G>T (p.Glu1667Ter) rs1135402869
NM_000267.3(NF1):c.5002dup (p.Tyr1668fs) rs1555533359
NM_000267.3(NF1):c.5009A>C (p.Lys1670Thr)
NM_000267.3(NF1):c.5009A>G (p.Lys1670Arg) rs863224661
NM_000267.3(NF1):c.5009_5010delinsCCC (p.Lys1670fs) rs1555533363
NM_000267.3(NF1):c.5020C>T (p.Arg1674Trp) rs1567611500
NM_000267.3(NF1):c.5020_5021dup (p.Leu1675fs) rs1555533366
NM_000267.3(NF1):c.5024T>C (p.Leu1675Pro) rs745489489
NM_000267.3(NF1):c.5024del (p.Leu1675fs) rs1555533368
NM_000267.3(NF1):c.5029A>T (p.Thr1677Ser) rs876659017
NM_000267.3(NF1):c.5035C>T (p.Leu1679Phe)
NM_000267.3(NF1):c.5039A>T (p.Lys1680Ile)
NM_000267.3(NF1):c.503C>G (p.Ser168Ter) rs1131691994
NM_000267.3(NF1):c.5044A>G (p.Ser1682Gly) rs1555533374
NM_000267.3(NF1):c.504A>G (p.Ser168=) rs876658638
NM_000267.3(NF1):c.5051G>A (p.Arg1684Lys) rs876660487
NM_000267.3(NF1):c.5052G>C (p.Arg1684Ser) rs749669269
NM_000267.3(NF1):c.5053C>T (p.Leu1685Phe)
NM_000267.3(NF1):c.5060T>G (p.Phe1687Cys)
NM_000267.3(NF1):c.5063T>G (p.Ile1688Arg) rs876660316
NM_000267.3(NF1):c.5069G>T (p.Cys1690Phe) rs1567611549
NM_000267.3(NF1):c.5076G>A (p.Gly1692=) rs786202181
NM_000267.3(NF1):c.5077A>G (p.Lys1693Glu)
NM_000267.3(NF1):c.5079A>G (p.Lys1693=) rs1555533379
NM_000267.3(NF1):c.5083G>A (p.Ala1695Thr) rs767469374
NM_000267.3(NF1):c.5083G>C (p.Ala1695Pro)
NM_000267.3(NF1):c.5089C>T (p.His1697Tyr) rs1555533381
NM_000267.3(NF1):c.5094del (p.Ile1698fs) rs1555533382
NM_000267.3(NF1):c.5097G>C (p.Glu1699Asp) rs773378630
NM_000267.3(NF1):c.5097G>T (p.Glu1699Asp) rs773378630
NM_000267.3(NF1):c.5106A>G (p.Gln1702=) rs864622372
NM_000267.3(NF1):c.5106A>T (p.Gln1702His) rs864622372
NM_000267.3(NF1):c.5115del (p.Pro1706fs) rs1555533393
NM_000267.3(NF1):c.511A>C (p.Asn171His)
NM_000267.3(NF1):c.5120C>T (p.Ala1707Val) rs1555533395
NM_000267.3(NF1):c.5126C>T (p.Thr1709Ile)
NM_000267.3(NF1):c.5128T>C (p.Leu1710=) rs876658602
NM_000267.3(NF1):c.5128T>G (p.Leu1710Val) rs876658602
NM_000267.3(NF1):c.5129T>A (p.Leu1710Ter) rs1567611604
NM_000267.3(NF1):c.512A>C (p.Asn171Thr)
NM_000267.3(NF1):c.512A>G (p.Asn171Ser) rs767500770
NM_000267.3(NF1):c.5132C>G (p.Ala1711Gly) rs202037436
NM_000267.3(NF1):c.514G>A (p.Val172Ile) rs1555607083
NM_000267.3(NF1):c.5152G>C (p.Val1718Leu) rs876659956
NM_000267.3(NF1):c.5158C>A (p.His1720Asn) rs780529277
NM_000267.3(NF1):c.5162A>G (p.Asn1721Ser) rs745407845
NM_000267.3(NF1):c.5164G>C (p.Ala1722Pro) rs878853900
NM_000267.3(NF1):c.5166T>C (p.Ala1722=) rs876657546
NM_000267.3(NF1):c.5167C>T (p.Leu1723Phe) rs1555533407
NM_000267.3(NF1):c.5172G>A (p.Lys1724=) rs17887014
NM_000267.3(NF1):c.5187C>T (p.Asp1729=) rs1210732116
NM_000267.3(NF1):c.518A>T (p.Asp173Val)
NM_000267.3(NF1):c.5192A>G (p.Lys1731Arg) rs864622373
NM_000267.3(NF1):c.5193A>G (p.Lys1731=) rs1060503899
NM_000267.3(NF1):c.5194G>A (p.Val1732Ile) rs148540952
NM_000267.3(NF1):c.5200A>G (p.Ile1734Val) rs370181275
NM_000267.3(NF1):c.5205+2T>G rs1555533416
NM_000267.3(NF1):c.5205+4A>G rs1555533418
NM_000267.3(NF1):c.5205+5G>A rs864622551
NM_000267.3(NF1):c.5205+7T>C rs772663607
NM_000267.3(NF1):c.5206-1G>A rs876660141
NM_000267.3(NF1):c.5206-1G>C rs876660141
NM_000267.3(NF1):c.5206-2A>G rs1555533548
NM_000267.3(NF1):c.5206-2A>T rs1555533548
NM_000267.3(NF1):c.5206-41_5228del rs1555533543
NM_000267.3(NF1):c.5206-8C>G
NM_000267.3(NF1):c.5206-9A>G rs544515671
NM_000267.3(NF1):c.5207T>C (p.Val1736Ala)
NM_000267.3(NF1):c.520G>A (p.Val174Ile)
NM_000267.3(NF1):c.520G>T (p.Val174Phe) rs1555607084
NM_000267.3(NF1):c.5210G>C (p.Gly1737Ala) rs1358882546
NM_000267.3(NF1):c.5221G>A (p.Val1741Ile) rs1060500290
NM_000267.3(NF1):c.5222T>A (p.Val1741Asp) rs1555533550
NM_000267.3(NF1):c.5223C>T (p.Val1741=) rs748566277
NM_000267.3(NF1):c.5223_5226del (p.Val1741_Gln1742insTer)
NM_000267.3(NF1):c.5226A>G (p.Gln1742=) rs199703296
NM_000267.3(NF1):c.5227G>A (p.Val1743Ile) rs778427434
NM_000267.3(NF1):c.5227G>T (p.Val1743Leu) rs778427434
NM_000267.3(NF1):c.5230A>G (p.Thr1744Ala) rs747584987
NM_000267.3(NF1):c.5232_5233del (p.Ala1746fs) rs1555533552
NM_000267.3(NF1):c.5236G>A (p.Ala1746Thr) rs529905904
NM_000267.3(NF1):c.5236G>T (p.Ala1746Ser) rs529905904
NM_000267.3(NF1):c.5242C>T (p.Arg1748Ter) rs876657714
NM_000267.3(NF1):c.5243G>A (p.Arg1748Gln) rs1555533559
NM_000267.3(NF1):c.5248A>G (p.Lys1750Glu) rs1131691103
NM_000267.3(NF1):c.5252T>A (p.Val1751Asp)
NM_000267.3(NF1):c.5254dup (p.Leu1752fs) rs1555533561
NM_000267.3(NF1):c.5259G>A (p.Gly1753=) rs201584313
NM_000267.3(NF1):c.525T>C (p.His175=) rs750358089
NM_000267.3(NF1):c.5266G>T (p.Val1756Phe) rs876658562
NM_000267.3(NF1):c.5276A>G (p.Asn1759Ser) rs1411525800
NM_000267.3(NF1):c.5281A>G (p.Ile1761Val) rs1160436761
NM_000267.3(NF1):c.5284del (p.Tyr1762fs) rs1567612415
NM_000267.3(NF1):c.5288A>C (p.Tyr1763Ser) rs1060500280
NM_000267.3(NF1):c.5288A>T (p.Tyr1763Phe) rs1060500280
NM_000267.3(NF1):c.528T>A (p.Asp176Glu) rs112306990
NM_000267.3(NF1):c.5294C>A (p.Ser1765Ter) rs1555533569
NM_000267.3(NF1):c.5294C>T (p.Ser1765Leu) rs1555533569
NM_000267.3(NF1):c.5295G>A (p.Ser1765=) rs373313111
NM_000267.3(NF1):c.5297A>C (p.Glu1766Ala) rs1555533570
NM_000267.3(NF1):c.529A>G (p.Ile177Val) rs766213678
NM_000267.3(NF1):c.529dup (p.Ile177fs) rs1555607093
NM_000267.3(NF1):c.5305G>T (p.Glu1769Ter)
NM_000267.3(NF1):c.5310C>G (p.Ile1770Met)
NM_000267.3(NF1):c.5313_5316dup (p.Val1773fs) rs1567612435
NM_000267.3(NF1):c.5314C>A (p.Leu1772Ile) rs761676110
NM_000267.3(NF1):c.5314C>T (p.Leu1772=) rs761676110
NM_000267.3(NF1):c.5318T>C (p.Val1773Ala) rs142867979
NM_000267.3(NF1):c.5321A>G (p.Asp1774Gly) rs1567612446
NM_000267.3(NF1):c.5322T>A (p.Asp1774Glu) rs1135402870
NM_000267.3(NF1):c.5334C>T (p.Phe1778=) rs878853901
NM_000267.3(NF1):c.5344A>G (p.Ile1782Val) rs559910904
NM_000267.3(NF1):c.5358C>T (p.Gly1786=) rs1060500279
NM_000267.3(NF1):c.5360C>T (p.Thr1787Met) rs760649828
NM_000267.3(NF1):c.5361G>A (p.Thr1787=) rs765841113
NM_000267.3(NF1):c.5363C>T (p.Pro1788Leu) rs587782220
NM_000267.3(NF1):c.5364dup (p.Leu1789fs) rs1567612483
NM_000267.3(NF1):c.5373C>T (p.Phe1791=) rs864622640
NM_000267.3(NF1):c.5380C>G (p.Gln1794Glu) rs1555533587
NM_000267.3(NF1):c.538_541del (p.Leu180fs) rs1135402789
NM_000267.3(NF1):c.5393C>T (p.Ala1798Val) rs1555533590
NM_000267.3(NF1):c.5395A>C (p.Ile1799Leu) rs786202459
NM_000267.3(NF1):c.5395A>G (p.Ile1799Val)
NM_000267.3(NF1):c.5396T>C (p.Ile1799Thr)
NM_000267.3(NF1):c.5398del (p.Val1800fs) rs1567612531
NM_000267.3(NF1):c.5402A>C (p.Gln1801Pro) rs1060500328
NM_000267.3(NF1):c.5404T>C (p.Ser1802Pro) rs1555533592
NM_000267.3(NF1):c.5406_5407insTT (p.Ile1803fs)
NM_000267.3(NF1):c.5406dup (p.Ile1803fs) rs267606605
NM_000267.3(NF1):c.5407A>G (p.Ile1803Val) rs370858405
NM_000267.3(NF1):c.5413C>G (p.His1805Asp) rs1135402871
NM_000267.3(NF1):c.5414A>G (p.His1805Arg) rs878853902
NM_000267.3(NF1):c.5416A>G (p.Ile1806Val)
NM_000267.3(NF1):c.5417T>C (p.Ile1806Thr) rs1555533605
NM_000267.3(NF1):c.5418C>G (p.Ile1806Met) rs1555533607
NM_000267.3(NF1):c.5419C>G (p.Arg1807Gly)
NM_000267.3(NF1):c.5419C>T (p.Arg1807Trp) rs1555533609
NM_000267.3(NF1):c.541C>T (p.Gln181Ter) rs753529924
NM_000267.3(NF1):c.541_542del (p.Gln181fs) rs1135402790
NM_000267.3(NF1):c.5420G>A (p.Arg1807Gln) rs876660298
NM_000267.3(NF1):c.5425C>A (p.Arg1809Ser) rs797045139
NM_000267.3(NF1):c.5425C>G (p.Arg1809Gly) rs797045139
NM_000267.3(NF1):c.5425C>T (p.Arg1809Cys) rs797045139
NM_000267.3(NF1):c.5426G>A (p.Arg1809His) rs771529172
NM_000267.3(NF1):c.5426G>C (p.Arg1809Pro) rs771529172
NM_000267.3(NF1):c.5426G>T (p.Arg1809Leu) rs771529172
NM_000267.3(NF1):c.5427C>T (p.Arg1809=) rs1245095693
NM_000267.3(NF1):c.5429G>A (p.Trp1810Ter) rs1135402872
NM_000267.3(NF1):c.5431del (p.Glu1811fs)
NM_000267.3(NF1):c.5434C>T (p.Leu1812=) rs372932380
NM_000267.3(NF1):c.5438C>G (p.Ser1813Ter)
NM_000267.3(NF1):c.5445C>T (p.Pro1815=) rs786202557
NM_000267.3(NF1):c.5446G>A (p.Asp1816Asn) rs771597781
NM_000267.3(NF1):c.5448dup (p.Ser1817fs) rs267606596
NM_000267.3(NF1):c.5449T>C (p.Ser1817Pro) rs1555533619
NM_000267.3(NF1):c.5450C>G (p.Ser1817Cys) rs368654378
NM_000267.3(NF1):c.5454C>A (p.Ile1818=) rs865839207
NM_000267.3(NF1):c.5458C>T (p.Gln1820Ter) rs786203570
NM_000267.3(NF1):c.5460A>G (p.Gln1820=) rs151046636
NM_000267.3(NF1):c.5465C>T (p.Thr1822Ile) rs1567612632
NM_000267.3(NF1):c.5465_5466insT (p.Lys1823fs) rs267606597
NM_000267.3(NF1):c.5470dup (p.Ile1824fs)
NM_000267.3(NF1):c.5471T>G (p.Ile1824Ser) rs1060500339
NM_000267.3(NF1):c.5472del (p.Arg1825fs) rs1567612647
NM_000267.3(NF1):c.5477C>T (p.Pro1826Leu) rs1555533631
NM_000267.3(NF1):c.5483A>T (p.Asp1828Val)
NM_000267.3(NF1):c.5483_5490del (p.Asp1828fs) rs1135402873
NM_000267.3(NF1):c.5485_5486del (p.Val1829fs) rs1555533636
NM_000267.3(NF1):c.5493G>A (p.Gly1831=) rs763146785
NM_000267.3(NF1):c.5497_5499delinsT (p.Leu1833fs) rs1555533641
NM_000267.3(NF1):c.5498T>G (p.Leu1833Arg) rs878853903
NM_000267.3(NF1):c.5498del (p.Leu1833fs) rs1555533644
NM_000267.3(NF1):c.549C>G (p.Ile183Met)
NM_000267.3(NF1):c.5508C>T (p.Ile1836=) rs771837192
NM_000267.3(NF1):c.5508_5509delinsT (p.Ala1837fs) rs1135402875
NM_000267.3(NF1):c.5508del (p.Ile1836fs) rs1135402874
NM_000267.3(NF1):c.5509G>A (p.Ala1837Thr) rs786203416
NM_000267.3(NF1):c.5509G>T (p.Ala1837Ser)
NM_000267.3(NF1):c.550A>C (p.Asn184His) rs1555607101
NM_000267.3(NF1):c.5511A>G (p.Ala1837=) rs760561904
NM_000267.3(NF1):c.5523del (p.Gly1842fs) rs1555533648
NM_000267.3(NF1):c.5524G>A (p.Gly1842Ser) rs1060500332
NM_000267.3(NF1):c.5525G>A (p.Gly1842Asp)
NM_000267.3(NF1):c.5543T>G (p.Leu1848Ter)
NM_000267.3(NF1):c.5546+1G>A rs1131691117
NM_000267.3(NF1):c.5546+336_5943+244del
NM_000267.3(NF1):c.5546+5G>A
NM_000267.3(NF1):c.5546+8T>C rs753289678
NM_000267.3(NF1):c.5546G>A (p.Arg1849Gln) rs786202112
NM_000267.3(NF1):c.5547-1G>C rs1567613569
NM_000267.3(NF1):c.5547-2A>G rs1135402876
NM_000267.3(NF1):c.5547-2A>T rs1135402876
NM_000267.3(NF1):c.5547-4C>G rs1419030713
NM_000267.3(NF1):c.5556C>G (p.Ala1852=) rs786203335
NM_000267.3(NF1):c.5561A>G (p.Asn1854Ser) rs1555533843
NM_000267.3(NF1):c.5562T>C (p.Asn1854=) rs1275173622
NM_000267.3(NF1):c.5568G>A (p.Leu1856=) rs1555533844
NM_000267.3(NF1):c.5573C>T (p.Ala1858Val) rs1555533845
NM_000267.3(NF1):c.5574del (p.Ala1858_Leu1859insTer) rs1135402877
NM_000267.3(NF1):c.5576T>C (p.Leu1859Ser) rs1567613595
NM_000267.3(NF1):c.5579C>T (p.Thr1860Ile) rs876658349
NM_000267.3(NF1):c.557A>T (p.Asp186Val) rs1567820771
NM_000267.3(NF1):c.5582G>A (p.Cys1861Tyr)
NM_000267.3(NF1):c.5582dup (p.Cys1861fs) rs1567613604
NM_000267.3(NF1):c.5583T>G (p.Cys1861Trp)
NM_000267.3(NF1):c.5586C>T (p.Thr1862=) rs139696493
NM_000267.3(NF1):c.5587T>C (p.Phe1863Leu) rs1060500378
NM_000267.3(NF1):c.5595A>G (p.Leu1865=) rs1555533854
NM_000267.3(NF1):c.5598A>G (p.Lys1866=) rs149759456
NM_000267.3(NF1):c.5599A>T (p.Ile1867Phe) rs863224662
NM_000267.3(NF1):c.5600dup (p.Glu1868fs) rs1555533856
NM_000267.3(NF1):c.5601C>T (p.Ile1867=) rs373685150
NM_000267.3(NF1):c.5605G>T (p.Gly1869Cys)
NM_000267.3(NF1):c.5606G>T (p.Gly1869Val) rs1567613630
NM_000267.3(NF1):c.5606_5627del (p.Gly1869fs)
NM_000267.3(NF1):c.5608C>T (p.Gln1870Ter) rs878853904
NM_000267.3(NF1):c.5609dup (p.Leu1871fs) rs1135402878
NM_000267.3(NF1):c.560del (p.Cys187fs) rs1555607107
NM_000267.3(NF1):c.5610G>A (p.Gln1870=) rs1555533857
NM_000267.3(NF1):c.5613A>C (p.Leu1871Phe) rs876658130
NM_000267.3(NF1):c.5613dup (p.Leu1872fs) rs1475358670
NM_000267.3(NF1):c.5617G>C (p.Glu1873Gln) rs774893767
NM_000267.3(NF1):c.5617G>T (p.Glu1873Ter)
NM_000267.3(NF1):c.5624C>G (p.Ser1875Ter) rs1135402879
NM_000267.3(NF1):c.5631A>G (p.Leu1877=) rs1555533863
NM_000267.3(NF1):c.5636del (p.Ile1879fs) rs1060500353
NM_000267.3(NF1):c.563C>T (p.Ala188Val) rs1060500309
NM_000267.3(NF1):c.5642C>T (p.Ala1881Val) rs1465309384
NM_000267.3(NF1):c.5648A>G (p.Asn1883Ser) rs864622647
NM_000267.3(NF1):c.5652C>T (p.Thr1884=) rs1060503892
NM_000267.3(NF1):c.5656T>C (p.Phe1886Leu) rs876660040
NM_000267.3(NF1):c.5657T>A (p.Phe1886Tyr) rs1567613677
NM_000267.3(NF1):c.5660_5679del (p.Ile1887fs) rs1567613682
NM_000267.3(NF1):c.5664_5665CT[1] (p.Ser1889fs)
NM_000267.3(NF1):c.5666C>G (p.Ser1889Cys) rs751904277
NM_000267.3(NF1):c.5667dup (p.Ile1890fs) rs876660212
NM_000267.3(NF1):c.5668A>G (p.Ile1890Val) rs146523293
NM_000267.3(NF1):c.5668_5671dup (p.Ser1891delinsAsnTer) rs1555533871
NM_000267.3(NF1):c.5669T>A (p.Ile1890Asn)
NM_000267.3(NF1):c.5678C>A (p.Thr1893Lys) rs1555533873
NM_000267.3(NF1):c.5679A>T (p.Thr1893=) rs1555533874
NM_000267.3(NF1):c.567A>G (p.Lys189=) rs1567820796
NM_000267.3(NF1):c.5682G>T (p.Leu1894=) rs1234091349
NM_000267.3(NF1):c.5690A>G (p.Asn1897Ser) rs534249104
NM_000267.3(NF1):c.5694G>A (p.Glu1898=) rs141077224
NM_000267.3(NF1):c.569T>G (p.Leu190Ter) rs1555607112
NM_000267.3(NF1):c.569del (p.Lys189_Leu190insTer) rs1555607110
NM_000267.3(NF1):c.5705C>G (p.Thr1902Arg) rs786203824
NM_000267.3(NF1):c.5705C>T (p.Thr1902Met) rs786203824
NM_000267.3(NF1):c.5706G>A (p.Thr1902=) rs780145472
NM_000267.3(NF1):c.5708T>A (p.Leu1903Ter)
NM_000267.3(NF1):c.5710G>T (p.Glu1904Ter) rs137854565
NM_000267.3(NF1):c.5717del (p.Leu1906fs) rs1135402880
NM_000267.3(NF1):c.5719G>T (p.Glu1907Ter) rs786203896
NM_000267.3(NF1):c.5721_5722AG[1] (p.Glu1908fs) rs1555533882
NM_000267.3(NF1):c.5723del (p.Glu1908fs) rs1555533883
NM_000267.3(NF1):c.5724G>C (p.Glu1908Asp) rs786202591
NM_000267.3(NF1):c.5724G>T (p.Glu1908Asp) rs786202591
NM_000267.3(NF1):c.5730T>C (p.Ile1910=) rs779114598
NM_000267.3(NF1):c.5739del (p.Phe1913fs)
NM_000267.3(NF1):c.5749+189_6999+1035del
NM_000267.3(NF1):c.5749+1G>T rs876658854
NM_000267.3(NF1):c.5749+2T>C rs1555533887
NM_000267.3(NF1):c.5749+332A>G rs863224491
NM_000267.3(NF1):c.5749+3_5749+4delAA rs1555533888
NM_000267.3(NF1):c.5749+4A>T
NM_000267.3(NF1):c.5749+5G>A rs1555533889
NM_000267.3(NF1):c.5749+6_6858+633delins130
NM_000267.3(NF1):c.5749+750_5943+244del
NM_000267.3(NF1):c.5749+8A>G rs372075322
NM_000267.3(NF1):c.574C>T (p.Arg192Ter) rs397514641
NM_000267.3(NF1):c.5750-1086_5943+244del
NM_000267.3(NF1):c.5750-1748_6184delinsCTA
NM_000267.3(NF1):c.5750-374_5944-176del
NM_000267.3(NF1):c.5750-460_5943+244del rs1555534307
NM_000267.3(NF1):c.5750G>A (p.Ser1917Asn) rs906075234
NM_000267.3(NF1):c.5752A>G (p.Ile1918Val)
NM_000267.3(NF1):c.575G>A (p.Arg192Gln) rs587781670
NM_000267.3(NF1):c.5767del (p.Leu1923fs) rs1555534378
NM_000267.3(NF1):c.5770del (p.Cys1924fs) rs1555534379
NM_000267.3(NF1):c.5773T>A (p.Leu1925Met) rs1422333640
NM_000267.3(NF1):c.5776G>T (p.Glu1926Ter) rs587782088
NM_000267.3(NF1):c.5779T>C (p.Tyr1927His)
NM_000267.3(NF1):c.5780dup (p.Tyr1927Ter) rs1135402881
NM_000267.3(NF1):c.5782A>T (p.Met1928Leu)
NM_000267.3(NF1):c.5788C>G (p.Pro1930Ala) rs1555534391
NM_000267.3(NF1):c.5791T>C (p.Trp1931Arg) rs199474791
NM_000267.3(NF1):c.5795T>C (p.Leu1932Pro) rs199474792
NM_000267.3(NF1):c.5800A>T (p.Asn1934Tyr) rs1567615782
NM_000267.3(NF1):c.5802T>C (p.Asn1934=) rs863224356
NM_000267.3(NF1):c.5810G>T (p.Arg1937Leu)
NM_000267.3(NF1):c.581T>C (p.Leu194Pro)
NM_000267.3(NF1):c.5820G>A (p.Lys1940=) rs144808600
NM_000267.3(NF1):c.5822A>G (p.His1941Arg) rs1555534402
NM_000267.3(NF1):c.582G>A (p.Leu194=) rs786201846
NM_000267.3(NF1):c.5837A>G (p.Lys1946Arg) rs1567615807
NM_000267.3(NF1):c.5839C>T (p.Arg1947Ter) rs137854552
NM_000267.3(NF1):c.5843A>T (p.Gln1948Leu) rs143502927
NM_000267.3(NF1):c.5844_5845del (p.Arg1949fs) rs863224835
NM_000267.3(NF1):c.5845A>T (p.Arg1949Ter) rs267606595
NM_000267.3(NF1):c.5845_5846insTA (p.Arg1949fs) rs1060500354
NM_000267.3(NF1):c.5847A>G (p.Arg1949=) rs777021090
NM_000267.3(NF1):c.584A>G (p.Lys195Arg) rs587778552
NM_000267.3(NF1):c.5855C>G (p.Ala1952Gly)
NM_000267.3(NF1):c.586+10_586+15delAATGTA rs1555607130
NM_000267.3(NF1):c.586+1209_1845+35del
NM_000267.3(NF1):c.586+1G>A rs1555607126
NM_000267.3(NF1):c.586+2T>C rs1135402791
NM_000267.3(NF1):c.586+4A>G
NM_000267.3(NF1):c.586+5G>A rs1060500284
NM_000267.3(NF1):c.586+5G>C
NM_000267.3(NF1):c.586+5delG rs1567820838
NM_000267.3(NF1):c.5861T>C (p.Leu1954Pro) rs1555534411
NM_000267.3(NF1):c.5862T>C (p.Leu1954=) rs375776474
NM_000267.3(NF1):c.5862del (p.Asp1955fs) rs1060500349
NM_000267.3(NF1):c.5868G>A (p.Lys1956=) rs786201672
NM_000267.3(NF1):c.586G>A (p.Glu196Lys) rs876659079
NM_000267.3(NF1):c.587-282_8315-3687del
NM_000267.3(NF1):c.587-2A>G rs1057518360
NM_000267.3(NF1):c.587-3C>T rs375188075
NM_000267.3(NF1):c.5871G>A (p.Leu1957=) rs535803385
NM_000267.3(NF1):c.5872A>G (p.Ile1958Val) rs775480099
NM_000267.3(NF1):c.5872A>T (p.Ile1958Leu)
NM_000267.3(NF1):c.5876C>T (p.Thr1959Ile) rs1060500336
NM_000267.3(NF1):c.5880del (p.Met1960fs) rs1567615872
NM_000267.3(NF1):c.5883C>T (p.Thr1961=) rs1555534423
NM_000267.3(NF1):c.5884A>G (p.Ile1962Val) rs876658484
NM_000267.3(NF1):c.5888A>G (p.Asn1963Ser) rs764291252
NM_000267.3(NF1):c.5892A>G (p.Glu1964=) rs369043956
NM_000267.3(NF1):c.5895A>G (p.Lys1965=) rs1216926117
NM_000267.3(NF1):c.5896C>G (p.Gln1966Glu) rs876659070
NM_000267.3(NF1):c.5898G>A (p.Gln1966=) rs757536610
NM_000267.3(NF1):c.589A>G (p.Thr197Ala) rs1171626658
NM_000267.3(NF1):c.58C>T (p.Gln20Ter) rs1567786905
NM_000267.3(NF1):c.5908_5915del (p.Ile1971fs)
NM_000267.3(NF1):c.5911A>T (p.Ile1971Phe)
NM_000267.3(NF1):c.5913T>C (p.Ile1971=) rs766233634
NM_000267.3(NF1):c.5921A>G (p.Lys1974Arg) rs1567615913
NM_000267.3(NF1):c.5928G>A (p.Trp1976Ter) rs876660696
NM_000267.3(NF1):c.5929G>A (p.Gly1977Arg) rs1555534426
NM_000267.3(NF1):c.592G>A (p.Ala198Thr) rs1555608643
NM_000267.3(NF1):c.592del (p.Ala198fs) rs1567825858
NM_000267.3(NF1):c.5938G>A (p.Gly1980Arg) rs199474751
NM_000267.3(NF1):c.5938G>C (p.Gly1980Arg) rs199474751
NM_000267.3(NF1):c.5939G>A (p.Gly1980Glu) rs878853905
NM_000267.3(NF1):c.5939G>T (p.Gly1980Val) rs878853905
NM_000267.3(NF1):c.593C>A (p.Ala198Glu) rs863224663
NM_000267.3(NF1):c.593C>T (p.Ala198Val)
NM_000267.3(NF1):c.5941C>T (p.Gln1981Ter) rs1567615941
NM_000267.3(NF1):c.5943+1G>A rs1555534433
NM_000267.3(NF1):c.5943+265_7000-999delins15
NM_000267.3(NF1):c.5943+448_7127-414del
NM_000267.3(NF1):c.5943+4T>C rs754909198
NM_000267.3(NF1):c.5943+5_5943+25del rs1555534435
NM_000267.3(NF1):c.5943G>C (p.Gln1981His) rs1555534432
NM_000267.3(NF1):c.5944-1G>A rs1555534596
NM_000267.3(NF1):c.5944-2A>G rs1555534595
NM_000267.3(NF1):c.5944-5A>G rs267606604
NM_000267.3(NF1):c.5944-6A>G rs775960363
NM_000267.3(NF1):c.5944-?_6858+?del
NM_000267.3(NF1):c.594A>T (p.Ala198=) rs138411879
NM_000267.3(NF1):c.594del (p.Phe199fs) rs1555608647
NM_000267.3(NF1):c.5969T>C (p.Leu1990Pro) rs878853906
NM_000267.3(NF1):c.5970A>C (p.Leu1990=) rs147995863
NM_000267.3(NF1):c.5970A>G (p.Leu1990=) rs147995863
NM_000267.3(NF1):c.5974A>G (p.Ser1992Gly) rs876658710
NM_000267.3(NF1):c.5975G>A (p.Ser1992Asn) rs1567616663
NM_000267.3(NF1):c.5982C>A (p.Ile1994=) rs1433863184
NM_000267.3(NF1):c.5991T>G (p.Ser1997Arg) rs1555534600
NM_000267.3(NF1):c.5993C>T (p.Ala1998Val) rs1567616673
NM_000267.3(NF1):c.5997A>G (p.Thr1999=) rs761889172
NM_000267.3(NF1):c.5999G>A (p.Gly2000Asp) rs1555534605
NM_000267.3(NF1):c.599A>T (p.Lys200Ile)
NM_000267.3(NF1):c.59A>C (p.Gln20Pro)
NM_000267.3(NF1):c.60+1G>C
NM_000267.3(NF1):c.60+1G>T rs1555594500
NM_000267.3(NF1):c.60+24136_587-5022del
NM_000267.3(NF1):c.60+2del rs1131691101
NM_000267.3(NF1):c.60+3120_3975-326del
NM_000267.3(NF1):c.60+3A>T
NM_000267.3(NF1):c.60+5C>G rs879413062
NM_000267.3(NF1):c.60+7G>C rs1060503895
NM_000267.3(NF1):c.6006G>C (p.Leu2002Phe) rs1555534607
NM_000267.3(NF1):c.6013A>G (p.Ile2005Val)
NM_000267.3(NF1):c.6019G>A (p.Ala2007Thr) rs767869530
NM_000267.3(NF1):c.6027dup (p.Met2010fs) rs1555534611
NM_000267.3(NF1):c.6038C>T (p.Thr2013Ile) rs1567616695
NM_000267.3(NF1):c.603del (p.Phe201fs) rs1135402792
NM_000267.3(NF1):c.6053C>T (p.Ala2018Val) rs1555534614
NM_000267.3(NF1):c.6055T>C (p.Ser2019Pro) rs1567616704
NM_000267.3(NF1):c.607del (p.Ala203fs) rs1567825887
NM_000267.3(NF1):c.6084+1G>A rs1060500296
NM_000267.3(NF1):c.6084+2T>C rs1555534621
NM_000267.3(NF1):c.6084+5T>A
NM_000267.3(NF1):c.6084+8C>G rs182709912
NM_000267.3(NF1):c.6084+8C>T rs182709912
NM_000267.3(NF1):c.6084G>C (p.Lys2028Asn) rs1135402882
NM_000267.3(NF1):c.6085-1G>C rs1555534661
NM_000267.3(NF1):c.6095G>A (p.Arg2032Lys) rs1060500289
NM_000267.3(NF1):c.6095G>C (p.Arg2032Thr)
NM_000267.3(NF1):c.6098T>C (p.Met2033Thr) rs1555534665
NM_000267.3(NF1):c.61-2A>G rs1131691100
NM_000267.3(NF1):c.61-4delT rs551568608
NM_000267.3(NF1):c.61-9T>C rs780956522
NM_000267.3(NF1):c.6101G>C (p.Cys2034Ser)
NM_000267.3(NF1):c.6108A>T (p.Ile2036=) rs140733963
NM_000267.3(NF1):c.6109A>G (p.Ile2037Val) rs201712827
NM_000267.3(NF1):c.610dup (p.Leu204fs) rs1135402793
NM_000267.3(NF1):c.6111del (p.Ile2037fs) rs1567616894
NM_000267.3(NF1):c.6112G>A (p.Asp2038Asn) rs761029453
NM_000267.3(NF1):c.6116A>G (p.Lys2039Arg)
NM_000267.3(NF1):c.6123C>T (p.Cys2041=) rs1555534669
NM_000267.3(NF1):c.6126A>G (p.Leu2042=) rs1060503911
NM_000267.3(NF1):c.6129T>C (p.Ser2043=) rs765094377
NM_000267.3(NF1):c.6132A>C (p.Pro2044=) rs1060503920
NM_000267.3(NF1):c.6133A>G (p.Thr2045Ala) rs1567616928
NM_000267.3(NF1):c.6134del (p.Thr2045fs) rs1135402883
NM_000267.3(NF1):c.6140C>G (p.Thr2047Ser)
NM_000267.3(NF1):c.6148C>T (p.Gln2050Ter) rs1135402884
NM_000267.3(NF1):c.6149A>G (p.Gln2050Arg)
NM_000267.3(NF1):c.614A>G (p.Lys205Arg) rs1555608659
NM_000267.3(NF1):c.6150A>G (p.Gln2050=) rs1060503910
NM_000267.3(NF1):c.615G>A (p.Lys205=) rs1135402794
NM_000267.3(NF1):c.6164A>G (p.Asp2055Gly)
NM_000267.3(NF1):c.6164_6165dup (p.Asp2056fs) rs1555534680
NM_000267.3(NF1):c.6165T>C (p.Asp2055=) rs1555534682
NM_000267.3(NF1):c.6167A>T (p.Asp2056Val) rs1555534684
NM_000267.3(NF1):c.616A>G (p.Lys206Glu) rs1060500269
NM_000267.3(NF1):c.6186C>G (p.Arg2062=) rs1567616975
NM_000267.3(NF1):c.618G>C (p.Lys206Asn) rs1567825917
NM_000267.3(NF1):c.6200T>C (p.Leu2067Pro) rs137854561
NM_000267.3(NF1):c.6201G>A (p.Leu2067=) rs762751192
NM_000267.3(NF1):c.6209A>G (p.Asn2070Ser) rs1555534696
NM_000267.3(NF1):c.6212del (p.Asn2071fs) rs1555534697
NM_000267.3(NF1):c.6215C>G (p.Ser2072Cys) rs1555534698
NM_000267.3(NF1):c.6216C>T (p.Ser2072=) rs1055695069
NM_000267.3(NF1):c.6230C>T (p.Ala2077Val) rs764106639
NM_000267.3(NF1):c.6232C>T (p.His2078Tyr) rs1060500382
NM_000267.3(NF1):c.6234T>C (p.His2078=) rs751517473
NM_000267.3(NF1):c.6236T>G (p.Leu2079Arg) rs1555534708
NM_000267.3(NF1):c.623C>T (p.Ala208Val) rs758624540
NM_000267.3(NF1):c.6241dup (p.Tyr2081fs) rs1555534712
NM_000267.3(NF1):c.6244C>T (p.Leu2082Phe) rs1555534719
NM_000267.3(NF1):c.6247T>C (p.Phe2083Leu) rs876660000
NM_000267.3(NF1):c.6249C>G (p.Phe2083Leu) rs780728198
NM_000267.3(NF1):c.624G>A (p.Ala208=) rs370184932
NM_000267.3(NF1):c.624_632del (p.Gln209_Ala211del) rs1555608666
NM_000267.3(NF1):c.6251A>C (p.His2084Pro) rs1555534726
NM_000267.3(NF1):c.6252C>T (p.His2084=) rs145732909
NM_000267.3(NF1):c.6253G>A (p.Val2085Ile) rs755791578
NM_000267.3(NF1):c.6253_6296dup (p.Ser2100_Thr2101insLeuLeuLeuSerTer) rs1567617045
NM_000267.3(NF1):c.625C>T (p.Gln209Ter) rs786203448
NM_000267.3(NF1):c.6260C>T (p.Thr2087Ile) rs876658920
NM_000267.3(NF1):c.6261T>C (p.Thr2087=) rs1555534728
NM_000267.3(NF1):c.6263del (p.Phe2088fs) rs1135402885
NM_000267.3(NF1):c.6265T>C (p.Leu2089=) rs780230966
NM_000267.3(NF1):c.6271G>A (p.Ala2091Thr) rs749672954
NM_000267.3(NF1):c.6275C>T (p.Thr2092Ile)
NM_000267.3(NF1):c.6277G>T (p.Gly2093Cys) rs1567617070
NM_000267.3(NF1):c.6278_6279del (p.Gly2093fs)
NM_000267.3(NF1):c.627G>A (p.Gln209=) rs1060503919
NM_000267.3(NF1):c.6282G>A (p.Pro2094=) rs779475182
NM_000267.3(NF1):c.628T>C (p.Leu210=) rs757812365
NM_000267.3(NF1):c.6297T>C (p.Ala2099=) rs371578074
NM_000267.3(NF1):c.62T>C (p.Leu21Pro) rs1567814403
NM_000267.3(NF1):c.6302C>T (p.Thr2101Ile) rs878853907
NM_000267.3(NF1):c.6302_6303insGG (p.His2102fs) rs1555534751
NM_000267.3(NF1):c.6305A>G (p.His2102Arg) rs112546213
NM_000267.3(NF1):c.6305A>T (p.His2102Leu)
NM_000267.3(NF1):c.6310C>G (p.Leu2104Val) rs786204236
NM_000267.3(NF1):c.6311T>C (p.Leu2104Pro)
NM_000267.3(NF1):c.6312G>A (p.Leu2104=) rs773467465
NM_000267.3(NF1):c.6313G>A (p.Val2105Ile) rs1567617114
NM_000267.3(NF1):c.6315C>T (p.Val2105=) rs760941036
NM_000267.3(NF1):c.6316A>G (p.Ile2106Val) rs200022550
NM_000267.3(NF1):c.631G>A (p.Ala211Thr) rs781519491
NM_000267.3(NF1):c.6324C>T (p.Ile2108=) rs786203078
NM_000267.3(NF1):c.632C>T (p.Ala211Val) rs1555608675
NM_000267.3(NF1):c.6330C>T (p.His2110=) rs17881788
NM_000267.3(NF1):c.6330_6331CT[2] (p.Leu2112fs) rs1567617129
NM_000267.3(NF1):c.6339T>A (p.Cys2113Ter) rs1555534766
NM_000267.3(NF1):c.633A>G (p.Ala211=) rs876660800
NM_000267.3(NF1):c.6341C>T (p.Thr2114Ile) rs1555534770
NM_000267.3(NF1):c.6357T>C (p.His2119=) rs762803346
NM_000267.3(NF1):c.6361A>C (p.Ser2121Arg) rs1135402886
NM_000267.3(NF1):c.6363T>C (p.Ser2121=) rs1060500251
NM_000267.3(NF1):c.6364+10A>G rs763852229
NM_000267.3(NF1):c.6364+2T>G rs1567617158
NM_000267.3(NF1):c.6364+5G>A rs1060500311
NM_000267.3(NF1):c.6364+8C>T rs864622598
NM_000267.3(NF1):c.6364G>A (p.Glu2122Lys) rs1555534775
NM_000267.3(NF1):c.6365-2A>C rs1060500312
NM_000267.3(NF1):c.6365-2A>G rs1060500312
NM_000267.3(NF1):c.6365-3C>T rs374014162
NM_000267.3(NF1):c.6365-6T>C rs772738883
NM_000267.3(NF1):c.6371C>T (p.Thr2124Ile)
NM_000267.3(NF1):c.6373A>T (p.Lys2125Ter)
NM_000267.3(NF1):c.6376C>A (p.Gln2126Lys) rs1555534859
NM_000267.3(NF1):c.6376C>T (p.Gln2126Ter)
NM_000267.3(NF1):c.6379G>A (p.Val2127Ile)
NM_000267.3(NF1):c.6389_6393delinsA (p.Leu2130fs) rs1135402887
NM_000267.3(NF1):c.6393T>C (p.Ser2131=) rs776897972
NM_000267.3(NF1):c.6399dup (p.Glu2134fs) rs1135402888
NM_000267.3(NF1):c.6407C>T (p.Ser2136Leu)
NM_000267.3(NF1):c.6417A>G (p.Lys2139=) rs1060503918
NM_000267.3(NF1):c.6424_6425del (p.Leu2142fs) rs1060500338
NM_000267.3(NF1):c.6425T>G (p.Leu2142Trp)
NM_000267.3(NF1):c.6427C>A (p.Leu2143Met) rs137854551
NM_000267.3(NF1):c.6458C>T (p.Ala2153Val) rs1555534865
NM_000267.3(NF1):c.6465T>C (p.Ile2155=) rs147522129
NM_000267.3(NF1):c.6472C>T (p.Arg2158Cys) rs878853908
NM_000267.3(NF1):c.6473G>A (p.Arg2158His) rs772639479
NM_000267.3(NF1):c.6475del (p.Ser2159fs)
NM_000267.3(NF1):c.6477del (p.Ser2160fs)
NM_000267.3(NF1):c.647T>C (p.Leu216Pro) rs199474756
NM_000267.3(NF1):c.647T>G (p.Leu216Arg)
NM_000267.3(NF1):c.6482del (p.Tyr2161fs) rs1135402889
NM_000267.3(NF1):c.6483C>T (p.Tyr2161=) rs876659768
NM_000267.3(NF1):c.6483_6487del (p.Tyr2161_Asp2163delinsTer) rs1135402890
NM_000267.3(NF1):c.6484C>A (p.Arg2162=)
NM_000267.3(NF1):c.6486G>A (p.Arg2162=) rs1028183407
NM_000267.3(NF1):c.6489C>T (p.Asp2163=) rs376808264
NM_000267.3(NF1):c.6492G>A (p.Arg2164=) rs786203189
NM_000267.3(NF1):c.6495A>C (p.Ser2165=) rs753509749
NM_000267.3(NF1):c.6496T>C (p.Phe2166Leu) rs1555534876
NM_000267.3(NF1):c.649G>T (p.Glu217Ter) rs878853909
NM_000267.3(NF1):c.6509C>T (p.Ser2170Phe)
NM_000267.3(NF1):c.6511T>A (p.Tyr2171Asn) rs267606598
NM_000267.3(NF1):c.6514G>C (p.Glu2172Gln)
NM_000267.3(NF1):c.6514G>T (p.Glu2172Ter) rs1135402891
NM_000267.3(NF1):c.6514_6515GA[4] (p.Glu2174fs) rs1131691084
NM_000267.3(NF1):c.6523A>G (p.Thr2175Ala) rs372169109
NM_000267.3(NF1):c.6537A>C (p.Thr2179=) rs747576584
NM_000267.3(NF1):c.6537del (p.Ser2180fs) rs1135402892
NM_000267.3(NF1):c.653del (p.Lys218fs)
NM_000267.3(NF1):c.654+1G>T rs1060500245
NM_000267.3(NF1):c.654+4del rs1555608683
NM_000267.3(NF1):c.655-2A>C rs1555608734
NM_000267.3(NF1):c.655-3T>C rs746584147
NM_000267.3(NF1):c.655-8A>G rs758089068
NM_000267.3(NF1):c.6560C>G (p.Ala2187Gly) rs1555534886
NM_000267.3(NF1):c.6560C>T (p.Ala2187Val) rs1555534886
NM_000267.3(NF1):c.6561T>C (p.Ala2187=) rs746061888
NM_000267.3(NF1):c.6565T>C (p.Leu2189=) rs138265293
NM_000267.3(NF1):c.6567G>A (p.Leu2189=) rs886052801
NM_000267.3(NF1):c.656C>G (p.Ala219Gly) rs1160353919
NM_000267.3(NF1):c.6572T>A (p.Ile2191Asn)
NM_000267.3(NF1):c.6574A>G (p.Met2192Val) rs864622330
NM_000267.3(NF1):c.6579+18A>G rs1555534893
NM_000267.3(NF1):c.6579+1G>A rs1060500345
NM_000267.3(NF1):c.6579+1G>T rs1060500345
NM_000267.3(NF1):c.6579+4T>C rs587781687
NM_000267.3(NF1):c.6579+5A>G rs1567617536
NM_000267.3(NF1):c.6579+6delG
NM_000267.3(NF1):c.6580-2A>G
NM_000267.3(NF1):c.6580-2A>T
NM_000267.3(NF1):c.6580-3T>A
NM_000267.3(NF1):c.6580-4T>C rs1555534908
NM_000267.3(NF1):c.6580-5T>G rs1555534907
NM_000267.3(NF1):c.6580-8T>A
NM_000267.3(NF1):c.6580-8T>C rs752079977
NM_000267.3(NF1):c.6582del (p.Cys2195fs) rs1555534913
NM_000267.3(NF1):c.6583T>A (p.Cys2195Ser)
NM_000267.3(NF1):c.6583T>C (p.Cys2195Arg) rs757736155
NM_000267.3(NF1):c.6584G>T (p.Cys2195Phe) rs1567617669
NM_000267.3(NF1):c.6585C>A (p.Cys2195Ter)
NM_000267.3(NF1):c.6593A>T (p.Asp2198Val) rs1567617676
NM_000267.3(NF1):c.6594T>G (p.Asp2198Glu) rs786203831
NM_000267.3(NF1):c.6595A>C (p.Ile2199Leu)
NM_000267.3(NF1):c.6595A>G (p.Ile2199Val)
NM_000267.3(NF1):c.6601A>G (p.Thr2201Ala) rs745945481
NM_000267.3(NF1):c.6602C>T (p.Thr2201Met) rs369803831
NM_000267.3(NF1):c.6604del (p.Cys2202fs) rs1555534917
NM_000267.3(NF1):c.6606C>A (p.Cys2202Ter) rs1555534918
NM_000267.3(NF1):c.6608del (p.Lys2203fs) rs1555534919
NM_000267.3(NF1):c.6611G>A (p.Trp2204Ter) rs1193716348
NM_000267.3(NF1):c.6616G>A (p.Asp2206Asn)
NM_000267.3(NF1):c.6618C>T (p.Asp2206=) rs876659371
NM_000267.3(NF1):c.6622T>C (p.Trp2208Arg) rs1060500342
NM_000267.3(NF1):c.6628G>A (p.Glu2210Lys) rs1024484381
NM_000267.3(NF1):c.6636del (p.Gln2213fs) rs1060500268
NM_000267.3(NF1):c.6637C>G (p.Gln2213Glu) rs1567617727
NM_000267.3(NF1):c.6637C>T (p.Gln2213Ter) rs1567617727
NM_000267.3(NF1):c.6641+1G>A rs1060500376
NM_000267.3(NF1):c.6641+1G>T rs1060500376
NM_000267.3(NF1):c.6641+1delG
NM_000267.3(NF1):c.6641+2T>G rs1555534928
NM_000267.3(NF1):c.6641+3A>G rs375560135
NM_000267.3(NF1):c.6641+4T>C rs1555534930
NM_000267.3(NF1):c.6642-17G>A rs1064795966
NM_000267.3(NF1):c.6642-1G>A rs1060500356
NM_000267.3(NF1):c.6642-1G>C rs1060500356
NM_000267.3(NF1):c.6642-3C>G rs1131691079
NM_000267.3(NF1):c.6653A>T (p.Gln2218Leu)
NM_000267.3(NF1):c.6659dup (p.Asn2220fs) rs1567617849
NM_000267.3(NF1):c.6663_6664insGGAAA (p.Ser2222fs) rs1555534950
NM_000267.3(NF1):c.6670C>T (p.Gln2224Ter)
NM_000267.3(NF1):c.667T>C (p.Trp223Arg) rs1555608740
NM_000267.3(NF1):c.6681T>A (p.Ala2227=) rs878853910
NM_000267.3(NF1):c.6686T>C (p.Val2229Ala) rs1567617869
NM_000267.3(NF1):c.6687T>C (p.Val2229=) rs762075320
NM_000267.3(NF1):c.668G>A (p.Trp223Ter) rs1567826110
NM_000267.3(NF1):c.6695G>A (p.Gly2232Glu) rs876659295
NM_000267.3(NF1):c.669G>A (p.Trp223Ter) rs1057517967
NM_000267.3(NF1):c.669G>T (p.Trp223Cys)
NM_000267.3(NF1):c.6709C>T (p.Arg2237Ter) rs876658541
NM_000267.3(NF1):c.670G>C (p.Val224Leu) rs1567826116
NM_000267.3(NF1):c.6710G>A (p.Arg2237Gln) rs786202030
NM_000267.3(NF1):c.6716C>T (p.Ser2239Phe) rs876658775
NM_000267.3(NF1):c.6717_6728delinsATGAGAC (p.His2240_Ile2243delinsTer) rs1555534952
NM_000267.3(NF1):c.6718C>T (p.His2240Tyr) rs750869272
NM_000267.3(NF1):c.6721G>T (p.Gly2241Trp) rs1392981001
NM_000267.3(NF1):c.6723G>A (p.Gly2241=) rs878853911
NM_000267.3(NF1):c.6727A>T (p.Ile2243Leu) rs761213794
NM_000267.3(NF1):c.6731A>G (p.Lys2244Arg)
NM_000267.3(NF1):c.6731A>T (p.Lys2244Met) rs1060500258
NM_000267.3(NF1):c.6731del (p.Lys2244fs)
NM_000267.3(NF1):c.6742C>T (p.Arg2248Cys) rs1555534961
NM_000267.3(NF1):c.6743G>A (p.Arg2248His) rs562367786
NM_000267.3(NF1):c.6747del (p.Ser2251fs) rs1135402893
NM_000267.3(NF1):c.6753C>T (p.Ser2251=) rs864622360
NM_000267.3(NF1):c.6755A>G (p.Lys2252Arg) rs1060500344
NM_000267.3(NF1):c.6755A>T (p.Lys2252Met) rs1060500344
NM_000267.3(NF1):c.6756+1G>A rs1555534964
NM_000267.3(NF1):c.6756+2T>C rs1135402894
NM_000267.3(NF1):c.6756+3A>G rs1555534966
NM_000267.3(NF1):c.6756+4C>T rs755135948
NM_000267.3(NF1):c.6756+5C>A rs876659499
NM_000267.3(NF1):c.6756+6T>C rs1407700643
NM_000267.3(NF1):c.6756+7G>C rs200532525
NM_000267.3(NF1):c.6756G>A (p.Lys2252=) rs1060500373
NM_000267.3(NF1):c.6756G>T (p.Lys2252Asn) rs1060500373
NM_000267.3(NF1):c.6757-1G>C rs1060500266
NM_000267.3(NF1):c.6757-5A>G rs1555535022
NM_000267.3(NF1):c.6757-7C>A rs1555535020
NM_000267.3(NF1):c.6757-7C>T rs1555535020
NM_000267.3(NF1):c.6757-8C>T rs1060503909
NM_000267.3(NF1):c.6757G>T (p.Ala2253Ser) rs1555535023
NM_000267.3(NF1):c.6759A>C (p.Ala2253=) rs1555535025
NM_000267.3(NF1):c.6767G>A (p.Ser2256Asn)
NM_000267.3(NF1):c.6770dup (p.Cys2257fs) rs1555535027
NM_000267.3(NF1):c.6771C>T (p.Cys2257=) rs149603406
NM_000267.3(NF1):c.6772_6773dup (p.Leu2258fs)
NM_000267.3(NF1):c.6774A>C (p.Leu2258Phe) rs144287929
NM_000267.3(NF1):c.6776A>G (p.Lys2259Arg) rs773858629
NM_000267.3(NF1):c.677A>C (p.Asn226Thr)
NM_000267.3(NF1):c.6787A>G (p.Thr2263Ala)
NM_000267.3(NF1):c.6788C>T (p.Thr2263Ile) rs747881072
NM_000267.3(NF1):c.6789_6792del (p.Tyr2264fs) rs1555535032
NM_000267.3(NF1):c.6791dup (p.Tyr2264Ter) rs876657715
NM_000267.3(NF1):c.6792C>A (p.Tyr2264Ter) rs772295894
NM_000267.3(NF1):c.6792C>G (p.Tyr2264Ter) rs772295894
NM_000267.3(NF1):c.6792del (p.Thr2263_Tyr2264insTer) rs1555535042
NM_000267.3(NF1):c.6792dup (p.Asn2265fs) rs1555535041
NM_000267.3(NF1):c.6798_6801dup (p.Val2268fs) rs1567618250
NM_000267.3(NF1):c.67A>G (p.Ile23Val) rs542824372
NM_000267.3(NF1):c.6801A>G (p.Gln2267=) rs1064794756
NM_000267.3(NF1):c.6807G>T (p.Leu2269=) rs773658814
NM_000267.3(NF1):c.680A>T (p.Tyr227Phe) rs1555608742
NM_000267.3(NF1):c.6815del (p.Ala2272fs) rs1135402895
NM_000267.3(NF1):c.6816T>C (p.Ala2272=) rs761125983
NM_000267.3(NF1):c.6818C>T (p.Thr2273Ile) rs786201902
NM_000267.3(NF1):c.681T>A (p.Tyr227Ter)
NM_000267.3(NF1):c.681T>G (p.Tyr227Ter)
NM_000267.3(NF1):c.6829C>T (p.Leu2277=) rs1555535049
NM_000267.3(NF1):c.6837A>C (p.Lys2279Asn) rs786203861
NM_000267.3(NF1):c.6837dup (p.Leu2280fs) rs1555535050
NM_000267.3(NF1):c.6841C>T (p.Gln2281Ter) rs1057518807
NM_000267.3(NF1):c.6855T>A (p.Asn2285Lys)
NM_000267.3(NF1):c.6858+10G>A rs767166725
NM_000267.3(NF1):c.6858+1G>A rs1060500355
NM_000267.3(NF1):c.6858+1G>T rs1060500355
NM_000267.3(NF1):c.6858+2T>A rs1555535053
NM_000267.3(NF1):c.6858+3A>G rs1085307885
NM_000267.3(NF1):c.6858+5T>C rs370402788
NM_000267.3(NF1):c.6858+9T>C rs1555535059
NM_000267.3(NF1):c.6858G>A (p.Lys2286=)
NM_000267.3(NF1):c.6858G>C (p.Lys2286Asn) rs1057523533
NM_000267.3(NF1):c.6859-16A>G rs202158964
NM_000267.3(NF1):c.6859-2A>G rs864622509
NM_000267.3(NF1):c.6859-3C>T rs876659438
NM_000267.3(NF1):c.6859-5G>A rs1555535158
NM_000267.3(NF1):c.6859-8T>C rs191255643
NM_000267.3(NF1):c.6866C>T (p.Pro2289Leu) rs148736217
NM_000267.3(NF1):c.6868C>G (p.Leu2290Val)
NM_000267.3(NF1):c.686A>G (p.Asp229Gly) rs1060500285
NM_000267.3(NF1):c.6873C>G (p.His2291Gln) rs1567618937
NM_000267.3(NF1):c.6882C>G (p.Leu2294=) rs751893971
NM_000267.3(NF1):c.6886T>G (p.Trp2296Gly) rs1060500297
NM_000267.3(NF1):c.6889G>T (p.Val2297Leu) rs760528229
NM_000267.3(NF1):c.6889_6892del (p.Val2297fs) rs1555535163
NM_000267.3(NF1):c.6889dup (p.Val2297fs) rs1057519369
NM_000267.3(NF1):c.6892G>A (p.Ala2298Thr) rs786203881
NM_000267.3(NF1):c.6895G>A (p.Val2299Met) rs766323701
NM_000267.3(NF1):c.68del (p.Ile23fs) rs1057518884
NM_000267.3(NF1):c.6905T>C (p.Leu2302Pro) rs1131691267
NM_000267.3(NF1):c.6907C>T (p.Gln2303Ter) rs1131691073
NM_000267.3(NF1):c.6910C>A (p.Leu2304Ile)
NM_000267.3(NF1):c.6915T>C (p.Asp2305=) rs1135402896
NM_000267.3(NF1):c.6916_6917insTA (p.Glu2306fs) rs1555535171
NM_000267.3(NF1):c.6923A>G (p.Asn2308Ser)
NM_000267.3(NF1):c.6927_6928insATGAGG (p.Tyr2310_Ser2311insMetArg)
NM_000267.3(NF1):c.6929A>T (p.Tyr2310Phe) rs1060500304
NM_000267.3(NF1):c.6934G>T (p.Ala2312Ser) rs1555535178
NM_000267.3(NF1):c.693_694delinsCT (p.Thr232Ser) rs1555608748
NM_000267.3(NF1):c.6940A>G (p.Thr2314Ala) rs370209920
NM_000267.3(NF1):c.6942C>T (p.Thr2314=) rs2040793
NM_000267.3(NF1):c.6943G>A (p.Ala2315Thr) rs587781428
NM_000267.3(NF1):c.6943G>C (p.Ala2315Pro) rs587781428
NM_000267.3(NF1):c.6943G>T (p.Ala2315Ser) rs587781428
NM_000267.3(NF1):c.6944C>A (p.Ala2315Glu) rs886052802
NM_000267.3(NF1):c.6946C>T (p.Leu2316Phe)
NM_000267.3(NF1):c.6947T>G (p.Leu2316Arg) rs1555535179
NM_000267.3(NF1):c.6949C>G (p.Leu2317Val)
NM_000267.3(NF1):c.6952G>T (p.Glu2318Ter) rs1060500359
NM_000267.3(NF1):c.6957A>G (p.Gln2319=) rs777399429
NM_000267.3(NF1):c.695C>T (p.Thr232Ile) rs769719064
NM_000267.3(NF1):c.6963G>A (p.Leu2321=) rs371581213
NM_000267.3(NF1):c.6963G>T (p.Leu2321=) rs371581213
NM_000267.3(NF1):c.6964C>T (p.His2322Tyr) rs781578248
NM_000267.3(NF1):c.6966T>C (p.His2322=) rs1555535187
NM_000267.3(NF1):c.6967A>G (p.Thr2323Ala) rs1555535189
NM_000267.3(NF1):c.6967del (p.Thr2323fs) rs1135402897
NM_000267.3(NF1):c.6969T>C (p.Thr2323=) rs1201730858
NM_000267.3(NF1):c.696A>G (p.Thr232=) rs368691517
NM_000267.3(NF1):c.6971_6978del (p.Leu2324fs) rs1555535192
NM_000267.3(NF1):c.6974_6977del (p.Asp2325fs)
NM_000267.3(NF1):c.6976A>G (p.Ser2326Gly) rs1060500318
NM_000267.3(NF1):c.6977G>C (p.Ser2326Thr) rs1567619102
NM_000267.3(NF1):c.697A>C (p.Lys233Gln) rs922257267
NM_000267.3(NF1):c.697A>G (p.Lys233Glu) rs922257267
NM_000267.3(NF1):c.6982C>G (p.Arg2328Gly)
NM_000267.3(NF1):c.6982C>T (p.Arg2328Cys) rs56013763
NM_000267.3(NF1):c.6983G>A (p.Arg2328His) rs864622065
NM_000267.3(NF1):c.6983G>T (p.Arg2328Leu) rs864622065
NM_000267.3(NF1):c.6991A>G (p.Asn2331Asp)
NM_000267.3(NF1):c.6992A>G (p.Asn2331Ser) rs763082717
NM_000267.3(NF1):c.6994_6996del (p.Asp2332del) rs786203558
NM_000267.3(NF1):c.6999+1G>A rs863224492
NM_000267.3(NF1):c.6999+1_6999+5delGTAAG rs1567619134
NM_000267.3(NF1):c.6999+2T>C rs1135402898
NM_000267.3(NF1):c.6999+8A>G rs864622468
NM_000267.3(NF1):c.7000-1G>T rs1131691114
NM_000267.3(NF1):c.7000-6T>C rs780593077
NM_000267.3(NF1):c.7000-6delT rs756593267
NM_000267.3(NF1):c.7000-7_7000-6delTTinsC rs864622725
NM_000267.3(NF1):c.7000-9C>T rs1555535398
NM_000267.3(NF1):c.7001G>A (p.Ser2334Asn) rs1555535399
NM_000267.3(NF1):c.7011A>G (p.Glu2337=) rs1388098913
NM_000267.3(NF1):c.7013_7039del (p.Val2338_Leu2346del) rs1555535403
NM_000267.3(NF1):c.7016T>G (p.Phe2339Cys) rs1567620390
NM_000267.3(NF1):c.7018A>G (p.Met2340Val) rs1022562410
NM_000267.3(NF1):c.7023A>C (p.Ala2341=) rs1241296625
NM_000267.3(NF1):c.7024A>G (p.Ile2342Val) rs137966859
NM_000267.3(NF1):c.7027C>A (p.Arg2343=) rs1567620403
NM_000267.3(NF1):c.7027C>T (p.Arg2343Trp)
NM_000267.3(NF1):c.7028G>A (p.Arg2343Gln) rs1555535407
NM_000267.3(NF1):c.702G>A (p.Leu234=) rs1801052
NM_000267.3(NF1):c.7038G>A (p.Leu2346=) rs1567620421
NM_000267.3(NF1):c.703T>C (p.Tyr235His) rs864622465
NM_000267.3(NF1):c.7044G>A (p.Trp2348Ter) rs1060500286
NM_000267.3(NF1):c.7045C>T (p.His2349Tyr) rs587781479
NM_000267.3(NF1):c.7047C>T (p.His2349=) rs201881479
NM_000267.3(NF1):c.7054C>T (p.Gln2352Ter) rs1555535417
NM_000267.3(NF1):c.7068del (p.Phe2356fs)
NM_000267.3(NF1):c.706C>G (p.Gln236Glu)
NM_000267.3(NF1):c.7072G>A (p.Gly2358Arg) rs775476318
NM_000267.3(NF1):c.7079A>G (p.Asn2360Ser) rs878853912
NM_000267.3(NF1):c.707A>G (p.Gln236Arg)
NM_000267.3(NF1):c.7085A>G (p.Asn2362Ser) rs146296921
NM_000267.3(NF1):c.7087T>C (p.Ser2363Pro) rs1555535429
NM_000267.3(NF1):c.7089_7090insTT (p.Asn2364fs)
NM_000267.3(NF1):c.7089dup (p.Asn2364Ter) rs1555535434
NM_000267.3(NF1):c.7090_7095AACTTT[1] (p.2364_2365NF[1]) rs864622639
NM_000267.3(NF1):c.7093T>G (p.Phe2365Val)
NM_000267.3(NF1):c.7094T>C (p.Phe2365Ser) rs1555535439
NM_000267.3(NF1):c.7095T>C (p.Phe2365=) rs876660271
NM_000267.3(NF1):c.7095del (p.Phe2365fs)
NM_000267.3(NF1):c.7098C>G (p.Asn2366Lys) rs1555535444
NM_000267.3(NF1):c.7099T>A (p.Phe2367Ile)
NM_000267.3(NF1):c.7104A>C (p.Ala2368=) rs1555535447
NM_000267.3(NF1):c.7106_7115delinsCAGC (p.Leu2369_His2372delinsSerAla) rs1555535448
NM_000267.3(NF1):c.7107G>C (p.Leu2369Phe) rs751081026
NM_000267.3(NF1):c.7107G>T (p.Leu2369Phe)
NM_000267.3(NF1):c.7114C>T (p.His2372Tyr)
NM_000267.3(NF1):c.7117C>G (p.Leu2373Val) rs1555535452
NM_000267.3(NF1):c.7118T>G (p.Leu2373Arg) rs1135402899
NM_000267.3(NF1):c.7120T>G (p.Leu2374Val) rs1567620503
NM_000267.3(NF1):c.7125del (p.Tyr2377fs) rs777872719
NM_000267.3(NF1):c.7126+1G>A rs1555535455
NM_000267.3(NF1):c.7126+3A>C rs267606610
NM_000267.3(NF1):c.7126+4A>C rs756834212
NM_000267.3(NF1):c.7126+7A>G rs767151173
NM_000267.3(NF1):c.7126+8A>G rs750100211
NM_000267.3(NF1):c.7126G>A (p.Gly2376Arg) rs1135402900
NM_000267.3(NF1):c.7126G>C (p.Gly2376Arg)
NM_000267.3(NF1):c.7127-2A>G rs772348111
NM_000267.3(NF1):c.7127-5T>G rs748245325
NM_000267.3(NF1):c.7127-7T>G rs779081215
NM_000267.3(NF1):c.7128G>A (p.Gly2376=) rs773474652
NM_000267.3(NF1):c.7128delG
NM_000267.3(NF1):c.712C>G (p.Pro238Ala) rs1060500365
NM_000267.3(NF1):c.7134G>A (p.Arg2378=) rs1555536017
NM_000267.3(NF1):c.7135C>T (p.His2379Tyr) rs1567623421
NM_000267.3(NF1):c.7136A>G (p.His2379Arg)
NM_000267.3(NF1):c.7148C>T (p.Ala2383Val) rs771706364
NM_000267.3(NF1):c.7150A>G (p.Ile2384Val) rs565708398
NM_000267.3(NF1):c.715C>T (p.Gln239Ter)
NM_000267.3(NF1):c.7160G>A (p.Arg2387Lys)
NM_000267.3(NF1):c.7165G>A (p.Val2389Ile) rs1060500372
NM_000267.3(NF1):c.7169_7195del (p.Arg2390_Val2399delinsIle) rs1567623439
NM_000267.3(NF1):c.7175T>A (p.Leu2392Ter) rs775181940
NM_000267.3(NF1):c.7182A>G (p.Thr2394=) rs539553128
NM_000267.3(NF1):c.7183C>T (p.Leu2395=) rs786201310
NM_000267.3(NF1):c.7183_7185CTA[1] (p.Leu2396del) rs1555536023
NM_000267.3(NF1):c.7190C>T (p.Thr2397Ile) rs764022114
NM_000267.3(NF1):c.7190_7191CT[1] (p.Leu2398fs)
NM_000267.3(NF1):c.7195G>A (p.Val2399Ile)
NM_000267.3(NF1):c.7197dup (p.Asn2400Ter) rs1135402901
NM_000267.3(NF1):c.7198_7201AACA[1] (p.Lys2401fs) rs1567623480
NM_000267.3(NF1):c.7199A>C (p.Asn2400Thr) rs774339063
NM_000267.3(NF1):c.7199A>G (p.Asn2400Ser) rs774339063
NM_000267.3(NF1):c.7202A>G (p.Lys2401Arg)
NM_000267.3(NF1):c.7204C>T (p.His2402Tyr)
NM_000267.3(NF1):c.7204_7205CA[1] (p.His2402fs) rs878853913
NM_000267.3(NF1):c.720T>C (p.Thr240=) rs1555608761
NM_000267.3(NF1):c.7212T>C (p.Asn2404=) rs1060503904
NM_000267.3(NF1):c.7215T>A (p.Cys2405Ter) rs1567623508
NM_000267.3(NF1):c.7218C>A (p.Asp2406Glu) rs1567623519
NM_000267.3(NF1):c.7221A>G (p.Lys2407=) rs1555536034
NM_000267.3(NF1):c.7224del (p.Phe2408fs) rs1135402902
NM_000267.3(NF1):c.7235C>T (p.Thr2412Ile) rs755749772
NM_000267.3(NF1):c.7238_7239AG[1] (p.Ser2414fs)
NM_000267.3(NF1):c.7240A>G (p.Ser2414Gly) rs1555536038
NM_000267.3(NF1):c.7243G>A (p.Val2415Met) rs876659856
NM_000267.3(NF1):c.724dup (p.Met242fs) rs1555608763
NM_000267.3(NF1):c.7251C>G (p.Tyr2417Ter) rs1060500385
NM_000267.3(NF1):c.7251C>T (p.Tyr2417=) rs1060500385
NM_000267.3(NF1):c.7257del (p.Ala2420fs) rs1060500300
NM_000267.3(NF1):c.7258+1G>T rs1135402903
NM_000267.3(NF1):c.7258+6A>G
NM_000267.3(NF1):c.7258+8C>T rs1555536044
NM_000267.3(NF1):c.7259-10T>G rs759969966
NM_000267.3(NF1):c.7259-17C>T rs17884859
NM_000267.3(NF1):c.7260T>G (p.Ala2420=) rs765750009
NM_000267.3(NF1):c.7261_7264TTAC[1] (p.Leu2422fs)
NM_000267.3(NF1):c.7262dup (p.Leu2421fs)
NM_000267.3(NF1):c.7263A>G (p.Leu2421=) rs753224880
NM_000267.3(NF1):c.7267dup (p.Thr2423fs) rs1064794278
NM_000267.3(NF1):c.7269A>G (p.Thr2423=) rs759005886
NM_000267.3(NF1):c.7274_7275del (p.Val2424_Ser2425insTer) rs1135402904
NM_000267.3(NF1):c.7276G>C (p.Glu2426Gln) rs878853914
NM_000267.3(NF1):c.7277_7279AAG[1] (p.Glu2427del) rs587781961
NM_000267.3(NF1):c.7278A>C (p.Glu2426Asp) rs878853915
NM_000267.3(NF1):c.7280A>C (p.Glu2427Ala)
NM_000267.3(NF1):c.7281A>G (p.Glu2427=) rs374234848
NM_000267.3(NF1):c.7285C>T (p.Arg2429Ter) rs786202457
NM_000267.3(NF1):c.7286G>A (p.Arg2429Gln) rs533110479
NM_000267.3(NF1):c.7291C>T (p.Arg2431Cys) rs377662483
NM_000267.3(NF1):c.7296C>T (p.Cys2432=) rs1555536126
NM_000267.3(NF1):c.7298G>C (p.Ser2433Thr) rs1555536127
NM_000267.3(NF1):c.730+10C>T rs750468471
NM_000267.3(NF1):c.730+16dup rs373999174
NM_000267.3(NF1):c.730+1G>C rs1060500274
NM_000267.3(NF1):c.730+1G>T rs1060500274
NM_000267.3(NF1):c.730+5G>A rs1567826200
NM_000267.3(NF1):c.730+6G>C
NM_000267.3(NF1):c.730+8T>C rs1555608771
NM_000267.3(NF1):c.7305A>C (p.Lys2435Asn) rs201287021
NM_000267.3(NF1):c.7305A>G (p.Lys2435=) rs201287021
NM_000267.3(NF1):c.7306C>T (p.His2436Tyr) rs768404575
NM_000267.3(NF1):c.7307A>G (p.His2436Arg) rs863224664
NM_000267.3(NF1):c.730G>A (p.Glu244Lys) rs1567826188
NM_000267.3(NF1):c.731-2A>T rs1555608924
NM_000267.3(NF1):c.731-302_8314+3681del
NM_000267.3(NF1):c.731-6A>C rs369366499
NM_000267.3(NF1):c.7310G>A (p.Arg2437Lys) rs1555536130
NM_000267.3(NF1):c.7310del (p.Arg2437fs) rs1060500335
NM_000267.3(NF1):c.7318C>G (p.Leu2440Val) rs1199046022
NM_000267.3(NF1):c.7318C>T (p.Leu2440Phe)
NM_000267.3(NF1):c.7318_7320CTT[2] (p.Leu2442del) rs786203184
NM_000267.3(NF1):c.7320T>C (p.Leu2440=) rs1555536133
NM_000267.3(NF1):c.7320del (p.Leu2441fs) rs1135402905
NM_000267.3(NF1):c.7322T>C (p.Leu2441Pro) rs1060500302
NM_000267.3(NF1):c.7328C>T (p.Thr2443Ile)
NM_000267.3(NF1):c.7329del (p.Asp2444fs) rs786202180
NM_000267.3(NF1):c.732A>C (p.Glu244Asp) rs1567826603
NM_000267.3(NF1):c.7330del (p.Asp2444fs)
NM_000267.3(NF1):c.7331A>G (p.Asp2444Gly) rs143474365
NM_000267.3(NF1):c.7333A>C (p.Ile2445Leu) rs748027595
NM_000267.3(NF1):c.7333A>G (p.Ile2445Val) rs748027595
NM_000267.3(NF1):c.7334T>C (p.Ile2445Thr) rs771915484
NM_000267.3(NF1):c.7337C>T (p.Ser2446Leu) rs1555536135
NM_000267.3(NF1):c.7339A>G (p.Met2447Val) rs151211377
NM_000267.3(NF1):c.7343A>G (p.Glu2448Gly) rs1281096294
NM_000267.3(NF1):c.7346dup (p.Asn2449fs) rs1135402906
NM_000267.3(NF1):c.7347T>C (p.Asn2449=) rs17881903
NM_000267.3(NF1):c.7352C>G (p.Pro2451Arg) rs786202184
NM_000267.3(NF1):c.7352C>T (p.Pro2451Leu)
NM_000267.3(NF1):c.7352del (p.Pro2451fs)
NM_000267.3(NF1):c.7354A>G (p.Met2452Val) rs1555536144
NM_000267.3(NF1):c.7360A>G (p.Thr2454Ala)
NM_000267.3(NF1):c.7361C>T (p.Thr2454Ile) rs770532573
NM_000267.3(NF1):c.7363T>C (p.Tyr2455His) rs864622745
NM_000267.3(NF1):c.7365T>A (p.Tyr2455Ter) rs181397225
NM_000267.3(NF1):c.7365T>C (p.Tyr2455=) rs181397225
NM_000267.3(NF1):c.7366C>G (p.Pro2456Ala) rs876658722
NM_000267.3(NF1):c.7369A>G (p.Ile2457Val) rs759307070
NM_000267.3(NF1):c.736G>T (p.Ala246Ser)
NM_000267.3(NF1):c.7374T>C (p.His2458=) rs1355368926
NM_000267.3(NF1):c.7376A>G (p.His2459Arg) rs371151718
NM_000267.3(NF1):c.7383C>A (p.Asp2461Glu) rs876660614
NM_000267.3(NF1):c.7384C>T (p.Pro2462Ser)
NM_000267.3(NF1):c.7386T>C (p.Pro2462=) rs878853916
NM_000267.3(NF1):c.7391A>G (p.Tyr2464Cys) rs1022605462
NM_000267.3(NF1):c.7392T>A (p.Tyr2464Ter)
NM_000267.3(NF1):c.7393A>G (p.Arg2465Gly) rs752162999
NM_000267.3(NF1):c.7394+3A>G rs1555536170
NM_000267.3(NF1):c.7394+5G>A rs1555536171
NM_000267.3(NF1):c.7394+8G>T rs376147282
NM_000267.3(NF1):c.7395-7C>T rs758106590
NM_000267.3(NF1):c.7395-7_7396delinsT rs1555536334
NM_000267.3(NF1):c.7395-?_*3522+?dup
NM_000267.3(NF1):c.7398A>C (p.Thr2466=) rs149924365
NM_000267.3(NF1):c.7398A>G (p.Thr2466=) rs149924365
NM_000267.3(NF1):c.7402A>G (p.Lys2468Glu) rs1555536338
NM_000267.3(NF1):c.7403A>G (p.Lys2468Arg) rs864622249
NM_000267.3(NF1):c.7407G>A (p.Glu2469=) rs1555536339
NM_000267.3(NF1):c.740A>G (p.Glu247Gly) rs864622385
NM_000267.3(NF1):c.7416A>G (p.Pro2472=) rs144957306
NM_000267.3(NF1):c.7419G>A (p.Trp2473Ter) rs863224493
NM_000267.3(NF1):c.7421C>T (p.Ser2474Phe) rs757245615
NM_000267.3(NF1):c.7424C>G (p.Ser2475Cys) rs371773406
NM_000267.3(NF1):c.7433G>A (p.Gly2478Asp) rs375176282
NM_000267.3(NF1):c.7433del (p.Gly2478fs) rs1555536352
NM_000267.3(NF1):c.7441G>C (p.Gly2481Arg) rs1555536357
NM_000267.3(NF1):c.7442del (p.Gly2481fs) rs1555536358
NM_000267.3(NF1):c.7450G>A (p.Ala2484Thr)
NM_000267.3(NF1):c.7451C>T (p.Ala2484Val) rs1567625126
NM_000267.3(NF1):c.7457C>T (p.Thr2486Ile) rs149055633
NM_000267.3(NF1):c.7462C>T (p.Pro2488Ser) rs886052803
NM_000267.3(NF1):c.7463C>T (p.Pro2488Leu) rs786202146
NM_000267.3(NF1):c.7465A>G (p.Thr2489Ala) rs145794301
NM_000267.3(NF1):c.7468G>C (p.Val2490Leu) rs2230850
NM_000267.3(NF1):c.746T>C (p.Leu249Pro) rs1567826623
NM_000267.3(NF1):c.746T>G (p.Leu249Arg) rs1567826623
NM_000267.3(NF1):c.7470C>T (p.Val2490=) rs760733171
NM_000267.3(NF1):c.7471G>A (p.Gly2491Ser) rs766496842
NM_000267.3(NF1):c.7473C>T (p.Gly2491=) rs786203187
NM_000267.3(NF1):c.7481G>T (p.Ser2494Ile)
NM_000267.3(NF1):c.7486C>T (p.Arg2496Ter) rs866445127
NM_000267.3(NF1):c.7487G>A (p.Arg2496Gln) rs755260088
NM_000267.3(NF1):c.7489G>A (p.Ala2497Thr) rs1567625163
NM_000267.3(NF1):c.7490C>A (p.Ala2497Asp) rs1060500265
NM_000267.3(NF1):c.7491C>G (p.Ala2497=) rs141897690
NM_000267.3(NF1):c.7507C>T (p.Leu2503=) rs1555536366
NM_000267.3(NF1):c.750del (p.Phe250fs) rs1567826633
NM_000267.3(NF1):c.7518G>C (p.Gly2506=) rs1555536369
NM_000267.3(NF1):c.7518del (p.Gln2507fs) rs878853917
NM_000267.3(NF1):c.7521A>G (p.Gln2507=) rs55865524
NM_000267.3(NF1):c.7522C>T (p.Pro2508Ser) rs1555536370
NM_000267.3(NF1):c.7525T>C (p.Ser2509Pro) rs1567625190
NM_000267.3(NF1):c.7528C>T (p.Gln2510Ter) rs1555536372
NM_000267.3(NF1):c.7531G>A (p.Ala2511Thr) rs1555536373
NM_000267.3(NF1):c.7532C>T (p.Ala2511Val) rs148154172
NM_000267.3(NF1):c.7533C>T (p.Ala2511=) rs864622517
NM_000267.3(NF1):c.7537A>G (p.Thr2513Ala) rs779737221
NM_000267.3(NF1):c.753C>G (p.Asp251Glu) rs1567826636
NM_000267.3(NF1):c.7544del (p.Lys2515fs) rs1060500327
NM_000267.3(NF1):c.7549del (p.Gly2518fs)
NM_000267.3(NF1):c.7551T>C (p.Leu2517=) rs1555536374
NM_000267.3(NF1):c.7552+1G>T rs1555536380
NM_000267.3(NF1):c.7552+5G>A rs1555536382
NM_000267.3(NF1):c.7552+8T>C rs1555536383
NM_000267.3(NF1):c.7555A>G (p.Thr2519Ala) rs1555536632
NM_000267.3(NF1):c.7556C>A (p.Thr2519Lys) rs1555536633
NM_000267.3(NF1):c.755_757TGG[1] (p.Val253del) rs1060500323
NM_000267.3(NF1):c.7560G>A (p.Arg2520=) rs876660737
NM_000267.3(NF1):c.7572T>A (p.Asp2524Glu) rs876659530
NM_000267.3(NF1):c.757G>T (p.Val253Leu) rs786203607
NM_000267.3(NF1):c.7580T>G (p.Ile2527Arg) rs864622266
NM_000267.3(NF1):c.7582T>C (p.Ser2528Pro) rs767458044
NM_000267.3(NF1):c.7594G>C (p.Ala2532Pro) rs1555536644
NM_000267.3(NF1):c.7599_7601delinsAG (p.Lys2534fs) rs1567626632
NM_000267.3(NF1):c.75A>C (p.Thr25=) rs768754175
NM_000267.3(NF1):c.7630A>G (p.Thr2544Ala) rs786202548
NM_000267.3(NF1):c.7637C>A (p.Pro2546His)
NM_000267.3(NF1):c.7637C>G (p.Pro2546Arg) rs754511534
NM_000267.3(NF1):c.7637C>T (p.Pro2546Leu) rs754511534
NM_000267.3(NF1):c.7638del (p.Lys2547_Met2548insTer) rs1060500295
NM_000267.3(NF1):c.7638dup (p.Lys2547fs) rs1060500295
NM_000267.3(NF1):c.7649G>A (p.Arg2550Lys)
NM_000267.3(NF1):c.7654G>A (p.Ala2552Thr) rs1555536654
NM_000267.3(NF1):c.7661C>T (p.Thr2554Ile)
NM_000267.3(NF1):c.7679C>G (p.Thr2560Ser) rs757632129
NM_000267.3(NF1):c.7682_7683AG[1] (p.Arg2562fs) rs1135402907
NM_000267.3(NF1):c.7682dup (p.Arg2562fs) rs1555536683
NM_000267.3(NF1):c.768T>G (p.Phe256Leu)
NM_000267.3(NF1):c.7690del (p.Ser2564fs) rs1555536685
NM_000267.3(NF1):c.7692C>T (p.Ser2564=) rs17881980
NM_000267.3(NF1):c.7694_7695dup (p.Ser2566fs)
NM_000267.3(NF1):c.7697C>G (p.Ser2566Ter) rs1131691090
NM_000267.3(NF1):c.7704G>C (p.Gln2568His) rs587782168
NM_000267.3(NF1):c.7707C>T (p.His2569=) rs1060503906
NM_000267.3(NF1):c.7718G>A (p.Arg2573His) rs774781617
NM_000267.3(NF1):c.7719del (p.Val2575fs) rs1135402908
NM_000267.3(NF1):c.771T>C (p.Ala257=) rs766932517
NM_000267.3(NF1):c.7721_7722del (p.Lys2574fs)
NM_000267.3(NF1):c.7726T>C (p.Ser2576Pro) rs864622364
NM_000267.3(NF1):c.7727C>A (p.Ser2576Ter) rs1567626945
NM_000267.3(NF1):c.7730T>C (p.Val2577Ala) rs760531845
NM_000267.3(NF1):c.7731G>A (p.Val2577=) rs1555536699
NM_000267.3(NF1):c.7734dup (p.Glu2579Ter) rs863224837
NM_000267.3(NF1):c.7741A>T (p.Asn2581Tyr) rs150657839
NM_000267.3(NF1):c.7744G>A (p.Val2582Ile)
NM_000267.3(NF1):c.7744G>C (p.Val2582Leu) rs766135206
NM_000267.3(NF1):c.7747C>G (p.Leu2583Val) rs776602307
NM_000267.3(NF1):c.7748del (p.Leu2583fs) rs1555536701
NM_000267.3(NF1):c.7752G>A (p.Leu2584=) rs1555536703
NM_000267.3(NF1):c.7762G>A (p.Val2588Ile) rs786203848
NM_000267.3(NF1):c.7762G>C (p.Val2588Leu) rs786203848
NM_000267.3(NF1):c.7768A>G (p.Thr2590Ala)
NM_000267.3(NF1):c.7770T>C (p.Thr2590=) rs786202445
NM_000267.3(NF1):c.7774C>T (p.Pro2592Ser) rs138839077
NM_000267.3(NF1):c.7775C>T (p.Pro2592Leu) rs750972729
NM_000267.3(NF1):c.7775dup (p.Lys2593fs) rs1131691129
NM_000267.3(NF1):c.7776G>A (p.Pro2592=) rs752218441
NM_000267.3(NF1):c.7776G>C (p.Pro2592=) rs752218441
NM_000267.3(NF1):c.7778A>G (p.Lys2593Arg) rs587781502
NM_000267.3(NF1):c.7779G>T (p.Lys2593Asn) rs1555536710
NM_000267.3(NF1):c.7781T>A (p.Ile2594Asn) rs1555536711
NM_000267.3(NF1):c.7784A>G (p.Gln2595Arg) rs876659308
NM_000267.3(NF1):c.7787C>T (p.Ala2596Val) rs375990655
NM_000267.3(NF1):c.7788G>A (p.Ala2596=) rs751273275
NM_000267.3(NF1):c.7788G>T (p.Ala2596=)