ClinVar Miner

List of variants in gene NF1 reported as pathogenic by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1047
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HGVS dbSNP
NC_000017.10:g.(?_29486022)_(29533395_?)del
NC_000017.10:g.(?_29508434)_(29509689_?)del
NC_000017.10:g.(?_29587367)_(29592377_?)dup
NC_000017.11:g.(?_31095030)_(31095379_?)del
NC_000017.11:g.(?_31095030)_(31170007_?)del
NC_000017.11:g.(?_31095290)_(31095389_?)del
NC_000017.11:g.(?_31095290)_(31183409_?)del
NC_000017.11:g.(?_31155973)_(31156136_?)del
NC_000017.11:g.(?_31155973)_(31265349_?)dup
NC_000017.11:g.(?_31160230)_(31163386_?)del
NC_000017.11:g.(?_31163186)_(31163376_?)del
NC_000017.11:g.(?_31163186)_(31169997_?)del
NC_000017.11:g.(?_31169881)_(31183454_?)del
NC_000017.11:g.(?_31181402)_(31182685_?)del
NC_000017.11:g.(?_31181402)_(31253278_?)del
NC_000017.11:g.(?_31181408)_(31183454_?)del
NC_000017.11:g.(?_31200402)_(31206391_?)del
NC_000017.11:g.(?_31200402)_(31265359_?)del
NC_000017.11:g.(?_31200412)_(31206381_?)del
NC_000017.11:g.(?_31200412)_(31265349_?)del
NC_000017.11:g.(?_31200416)_(31206377_?)del
NC_000017.11:g.(?_31200422)_(31265339_?)del
NC_000017.11:g.(?_31218985)_(31222471_?)del
NC_000017.11:g.(?_31225075)_(31236281_?)del
NC_000017.11:g.(?_31229825)_(31265349_?)del
NC_000017.11:g.(?_31232063)_(31236281_?)del
NC_000017.11:g.(?_31232063)_(31249129_?)del
NC_000017.11:g.(?_31248964)_(31265359_?)del
NC_000017.11:g.(?_31248974)_(31265349_?)del
NC_000017.11:g.(?_31325814)_(31338145_?)del
NC_000017.11:g.(?_31327479)_(31327859_?)del
NC_000017.11:g.(?_31327499)_(31327839_?)del
NC_000017.11:g.(?_31334828)_(31335041_?)del
NC_000017.11:g.(?_31334832)_(31335037_?)del
NC_000017.11:g.(?_31342999)_(31374165_?)del
NC_000017.11:g.(?_31343009)_(31343135_?)del
NC_000017.11:g.(?_31352247)_(31352424_?)del
NM_000267.3(NF1):c.1020dup (p.Val341fs) rs1555610905
NM_000267.3(NF1):c.1059del (p.Lys354fs) rs863224488
NM_000267.3(NF1):c.1062+1G>A rs1597681200
NM_000267.3(NF1):c.1062+3A>G rs1057521098
NM_000267.3(NF1):c.1063-2A>G rs1060500358
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) rs1597681960
NM_000267.3(NF1):c.1139T>C (p.Leu380Pro) rs1555611004
NM_000267.3(NF1):c.1174C>T (p.Gln392Ter) rs1597682137
NM_000267.3(NF1):c.1185+1G>A rs864622161
NM_000267.3(NF1):c.1185+2T>G rs1555611043
NM_000267.3(NF1):c.1218del (p.His407fs) rs1131691106
NM_000267.3(NF1):c.1238C>A (p.Ser413Ter) rs1241533665
NM_000267.3(NF1):c.1238C>G (p.Ser413Ter) rs1241533665
NM_000267.3(NF1):c.1246C>T (p.Arg416Ter) rs764079291
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 rs267606603
NM_000267.3(NF1):c.1260+5G>A rs1060500253
NM_000267.3(NF1):c.1299T>G (p.Tyr433Ter) rs876660099
NM_000267.3(NF1):c.129_130ins568 (p.?)
NM_000267.3(NF1):c.1318C>T (p.Arg440Ter) rs778405030
NM_000267.3(NF1):c.1331del (p.Gly444fs) rs1567838293
NM_000267.3(NF1):c.1343dup (p.His448fs) rs1555611584
NM_000267.3(NF1):c.1344dup (p.Lys449Ter) rs1567838311
NM_000267.3(NF1):c.1354C>T (p.Gln452Ter) rs1555611590
NM_000267.3(NF1):c.1381C>T (p.Arg461Ter) rs878853865
NM_000267.3(NF1):c.1393_1394delAG rs1597698310
NM_000267.3(NF1):c.1423dup (p.Leu475fs) rs1555612274
NM_000267.3(NF1):c.1453G>T (p.Glu485Ter) rs1131691610
NM_000267.3(NF1):c.1466A>G (p.Tyr489Cys) rs137854557
NM_000267.3(NF1):c.1469_1470insTTAT (p.Lys490fs) rs1060500307
NM_000267.3(NF1):c.1496T>G (p.Leu499Arg) rs1555612288
NM_000267.3(NF1):c.1514del (p.Lys505fs) rs1555612289
NM_000267.3(NF1):c.1525del (p.Cys509fs) rs1135402813
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.1541_1542del (p.Gln514fs) rs267606600
NM_000267.3(NF1):c.1549G>T (p.Glu517Ter) rs587778548
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.1603C>T (p.Gln535Ter) rs1567843917
NM_000267.3(NF1):c.1618G>T (p.Glu540Ter) rs1567843930
NM_000267.3(NF1):c.1619del (p.Glu540fs) rs1567843934
NM_000267.3(NF1):c.1627C>T (p.Gln543Ter) rs894292181
NM_000267.3(NF1):c.1642-2A>T rs1597706620
NM_000267.3(NF1):c.1646T>C (p.Leu549Pro) rs199474758
NM_000267.3(NF1):c.1658A>G (p.His553Arg) rs1064794274
NM_000267.3(NF1):c.1680del (p.Leu560fs) rs1567845069
NM_000267.3(NF1):c.1713G>A (p.Trp571Ter) rs863224489
NM_000267.3(NF1):c.1714del (p.Glu572fs) rs876660135
NM_000267.3(NF1):c.1721+1G>T rs1131691096
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.1724C>G (p.Ser575Ter) rs915463951
NM_000267.3(NF1):c.1726C>T (p.Gln576Ter) rs1060500278
NM_000267.3(NF1):c.1738dup (p.Tyr580fs) rs786204255
NM_000267.3(NF1):c.1748A>G (p.Lys583Arg) rs199474760
NM_000267.3(NF1):c.1756_1759del (p.Thr586fs) rs786202782
NM_000267.3(NF1):c.1765C>T (p.Gln589Ter) rs1282299543
NM_000267.3(NF1):c.1783G>T (p.Glu595Ter) rs1597708728
NM_000267.3(NF1):c.1783_1784del (p.Glu595fs) rs786204059
NM_000267.3(NF1):c.1796G>A (p.Trp599Ter) rs1131691130
NM_000267.3(NF1):c.1797G>A (p.Trp599Ter) rs1567845906
NM_000267.3(NF1):c.1815del (p.Cys606fs) rs1567845935
NM_000267.3(NF1):c.1818C>A (p.Cys606Ter) rs1567845937
NM_000267.3(NF1):c.181dup (p.Ile61fs) rs1555604935
NM_000267.3(NF1):c.1845+1G>A rs1567845945
NM_000267.3(NF1):c.1845+1_1845+5del rs1135402822
NM_000267.3(NF1):c.1857_1863del (p.Arg619fs) rs1567846634
NM_000267.3(NF1):c.1882dup (p.Tyr628fs) rs1555613558
NM_000267.3(NF1):c.1884C>A (p.Tyr628Ter) rs555635097
NM_000267.3(NF1):c.1885G>A (p.Gly629Arg) rs199474738
NM_000267.3(NF1):c.1912G>T (p.Gly638Ter) rs1555613567
NM_000267.3(NF1):c.1949T>A (p.Leu650Ter) rs1135402826
NM_000267.3(NF1):c.1984A>T (p.Lys662Ter) rs1597710793
NM_000267.3(NF1):c.2033dup (p.Ile679fs) rs587781807
NM_000267.3(NF1):c.2034del (p.Ile679fs) rs1567847384
NM_000267.3(NF1):c.204+1G>A rs886039548
NM_000267.3(NF1):c.2041C>T (p.Arg681Ter) rs768638173
NM_000267.3(NF1):c.2041del (p.Arg681fs) rs1567847398
NM_000267.3(NF1):c.2045_2049dup (p.Gln684fs) rs1597712398
NM_000267.3(NF1):c.205-1G>C rs1555605362
NM_000267.3(NF1):c.205-2A>G rs1597629679
NM_000267.3(NF1):c.2062G>T (p.Glu688Ter) rs1555613784
NM_000267.3(NF1):c.2064dup (p.Val689fs) rs1555613786
NM_000267.3(NF1):c.206_207delGA rs1060500321
NM_000267.3(NF1):c.2071del (p.Leu691fs) rs1060500364
NM_000267.3(NF1):c.2084T>C (p.Leu695Pro) rs199474761
NM_000267.3(NF1):c.2125T>C (p.Cys709Arg) rs1131691095
NM_000267.3(NF1):c.2167del (p.Val723fs) rs1567847571
NM_000267.3(NF1):c.221_222dup (p.Ala75fs) rs1597629724
NM_000267.3(NF1):c.2252-1G>A rs587781577
NM_000267.3(NF1):c.2252-2A>G rs1131691105
NM_000267.3(NF1):c.2266C>T (p.Gln756Ter) rs1567847905
NM_000267.3(NF1):c.2272A>T (p.Arg758Ter) rs777759192
NM_000267.3(NF1):c.2288T>G (p.Leu763Arg) rs199474762
NM_000267.3(NF1):c.2298_2304del (p.Glu767fs) rs786204154
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.2325G>T (p.Glu775Asp) rs1555613932
NM_000267.3(NF1):c.2329T>C (p.Trp777Arg) rs876658853
NM_000267.3(NF1):c.2338dup (p.Thr780fs) rs1567848129
NM_000267.3(NF1):c.2339C>A (p.Thr780Lys) rs199474746
NM_000267.3(NF1):c.233del (p.Asn78fs) rs1438566555
NM_000267.3(NF1):c.2352G>A (p.Trp784Ter) rs199474778
NM_000267.3(NF1):c.236T>G (p.Leu79Ter) rs1597629765
NM_000267.3(NF1):c.2380del (p.Tyr794fs) rs1567848178
NM_000267.3(NF1):c.2407C>T (p.Gln803Ter) rs1567848213
NM_000267.3(NF1):c.2409+1G>A rs1555614022
NM_000267.3(NF1):c.2409+1G>C rs1555614022
NM_000267.3(NF1):c.2409+1G>T rs1555614022
NM_000267.3(NF1):c.2409+2del rs878853875
NM_000267.3(NF1):c.2411del (p.Ala804fs) rs1555614180
NM_000267.3(NF1):c.2424del (p.His809fs) rs1567848731
NM_000267.3(NF1):c.2434del (p.Ile812fs) rs1567848739
NM_000267.3(NF1):c.2446C>T (p.Arg816Ter) rs886041347
NM_000267.3(NF1):c.2449dup (p.Met817fs) rs1567848755
NM_000267.3(NF1):c.244_247del rs771115661
NM_000267.3(NF1):c.246_247del rs771115661
NM_000267.3(NF1):c.247C>T (p.Gln83Ter) rs746824139
NM_000267.3(NF1):c.248A>C (p.Gln83Pro) rs1060500360
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.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.2537C>A (p.Ala846Asp) rs1555614229
NM_000267.3(NF1):c.2540T>C (p.Leu847Pro) rs199474747
NM_000267.3(NF1):c.2540T>G (p.Leu847Arg) rs199474747
NM_000267.3(NF1):c.2542G>A (p.Gly848Arg) rs1060500368
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.2560C>T (p.Gln854Ter) rs1555614261
NM_000267.3(NF1):c.2604dup (p.Pro869fs) rs878853877
NM_000267.3(NF1):c.2619dup (p.Lys874Ter) rs1555614284
NM_000267.3(NF1):c.2622_2629del (p.Lys874fs) rs1567848976
NM_000267.3(NF1):c.2668_2677del (p.Pro890fs) rs1555614293
NM_000267.3(NF1):c.2674del (p.Ser892fs) rs1555614296
NM_000267.3(NF1):c.2693T>C (p.Leu898Pro) rs199474786
NM_000267.3(NF1):c.2695_2738dup (p.Arg914_Thr915insCysProTer) rs1597715646
NM_000267.3(NF1):c.2702T>G (p.Leu901Ter) rs1597715649
NM_000267.3(NF1):c.2709G>A (p.Val903=) rs771820789
NM_000267.3(NF1):c.2710dup (p.Cys904fs) rs1555614310
NM_000267.3(NF1):c.2729dup (p.Leu911fs) rs1555614313
NM_000267.3(NF1):c.2734C>T (p.Gln912Ter) rs1597715673
NM_000267.3(NF1):c.279T>A (p.Cys93Ter) rs1597629882
NM_000267.3(NF1):c.2802del (p.Phe934fs) rs1555614343
NM_000267.3(NF1):c.2842C>T (p.Gln948Ter) rs1567849237
NM_000267.3(NF1):c.2848C>T (p.Gln950Ter) rs1060500357
NM_000267.3(NF1):c.2850G>A (p.Gln950=) rs863224446
NM_000267.3(NF1):c.2866dup (p.Thr956fs) rs1555614418
NM_000267.3(NF1):c.2870del (p.Asn957fs) rs1555614423
NM_000267.3(NF1):c.288+1G>C rs1567816131
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+5G>A rs1555605409
NM_000267.3(NF1):c.288+5G>T rs1555605409
NM_000267.3(NF1):c.2887C>T (p.Gln963Ter) rs876660444
NM_000267.3(NF1):c.2890del (p.Thr964fs) rs1555614437
NM_000267.3(NF1):c.2947_2948del (p.Leu983fs) rs1597716378
NM_000267.3(NF1):c.2953C>T (p.Gln985Ter) rs1555614455
NM_000267.3(NF1):c.2969_2970dup (p.Met991fs) rs1555614458
NM_000267.3(NF1):c.2970_2971del (p.Met991fs) rs1597716432
NM_000267.3(NF1):c.2970_2972del (p.Met992del) rs267606606
NM_000267.3(NF1):c.298del (p.Asp100fs) rs1567817841
NM_000267.3(NF1):c.2990+1G>A rs1135402836
NM_000267.3(NF1):c.2991-1G>A rs1060500273
NM_000267.3(NF1):c.2991-1G>C rs1060500273
NM_000267.3(NF1):c.3043del (p.Leu1015fs) rs1555614514
NM_000267.3(NF1):c.3046T>C (p.Cys1016Arg) rs878853880
NM_000267.3(NF1):c.3047_3048insSVAelement
NM_000267.3(NF1):c.3053T>A (p.Leu1018Ter) rs1597716924
NM_000267.3(NF1):c.3064del (p.Val1021_Met1022insTer) rs878853881
NM_000267.3(NF1):c.3075del (p.Arg1026fs) rs1555614526
NM_000267.3(NF1):c.3076A>T (p.Arg1026Ter) rs1555614529
NM_000267.3(NF1):c.3089C>G (p.Ser1030Ter) rs1567849864
NM_000267.3(NF1):c.3094dup (p.Cys1032fs) rs1555614535
NM_000267.3(NF1):c.3097C>T (p.Gln1033Ter) rs1131691104
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+5G>A rs1555614549
NM_000267.3(NF1):c.311_312del (p.Arg103_Leu104insTer) rs1555606053
NM_000267.3(NF1):c.3139_3140del (p.Asp1047fs) rs863224490
NM_000267.3(NF1):c.3144G>A (p.Trp1048Ter) rs1555614635
NM_000267.3(NF1):c.3158C>G (p.Ser1053Ter) rs1597717610
NM_000267.3(NF1):c.3161_3165del (p.Asn1054fs) rs1555614642
NM_000267.3(NF1):c.3197G>C (p.Arg1066Thr) rs1555614652
NM_000267.3(NF1):c.3198-2A>G rs1131691089
NM_000267.3(NF1):c.3214dup (p.Ser1072fs) rs1555614825
NM_000267.3(NF1):c.3250_3251dup (p.Gln1086fs) rs1555614845
NM_000267.3(NF1):c.3277G>A (p.Val1093Met) rs1555614858
NM_000267.3(NF1):c.328del (p.Val110fs) rs1567817865
NM_000267.3(NF1):c.3315-1G>A rs1567850984
NM_000267.3(NF1):c.3315-1G>C rs1567850984
NM_000267.3(NF1):c.3315-2A>G rs1555614914
NM_000267.3(NF1):c.334C>T (p.Gln112Ter) rs1555606061
NM_000267.3(NF1):c.3361G>T (p.Glu1121Ter) rs1567851029
NM_000267.3(NF1):c.3367G>T (p.Glu1123Ter) rs1555614940
NM_000267.3(NF1):c.3376C>T (p.Gln1126Ter) rs1555614947
NM_000267.3(NF1):c.3384del (p.Gly1129fs) rs1567851054
NM_000267.3(NF1):c.3402_3405dup (p.Arg1136fs) rs1597719535
NM_000267.3(NF1):c.3431_3432dup (p.Thr1145fs) rs1555614966
NM_000267.3(NF1):c.3445A>G (p.Met1149Val) rs1187097568
NM_000267.3(NF1):c.3447G>A (p.Met1149Ile) rs1064794277
NM_000267.3(NF1):c.3447G>C (p.Met1149Ile) rs1064794277
NM_000267.3(NF1):c.3447G>T (p.Met1149Ile) rs1064794277
NM_000267.3(NF1):c.3447_3448dup (p.Ser1150fs) rs1597719619
NM_000267.3(NF1):c.3449C>G (p.Ser1150Ter) rs1555614972
NM_000267.3(NF1):c.3457_3460del (p.Leu1153fs) rs1321848637
NM_000267.3(NF1):c.3467A>G (p.Asn1156Ser) rs199474764
NM_000267.3(NF1):c.3484dup (p.Met1162fs) rs1555614977
NM_000267.3(NF1):c.3494T>A (p.Ile1165Lys) rs786204211
NM_000267.3(NF1):c.3497delG rs1567851231
NM_000267.3(NF1):c.3500T>G (p.Leu1167Ter) rs786204253
NM_000267.3(NF1):c.3525_3526del (p.Arg1176fs) rs1131691092
NM_000267.3(NF1):c.3565C>T (p.Gln1189Ter) rs878853884
NM_000267.3(NF1):c.3567del (p.Gly1190fs) rs1060500271
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.3623T>A (p.Leu1208Ter) rs1060500374
NM_000267.3(NF1):c.3639_3641del (p.Met1215del) rs1060500276
NM_000267.3(NF1):c.3644T>G (p.Met1215Arg) rs1555615071
NM_000267.3(NF1):c.3657dup (p.Glu1220fs) rs1567851445
NM_000267.3(NF1):c.3665del (p.Pro1222fs) rs867391752
NM_000267.3(NF1):c.3686del (p.Asn1229fs) rs1555615103
NM_000267.3(NF1):c.3695del (p.Pro1232fs) rs1567851532
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.3709-1G>A rs1555615431
NM_000267.3(NF1):c.3709-2A>T rs1597722374
NM_000267.3(NF1):c.3712G>T (p.Glu1238Ter) rs1060500346
NM_000267.3(NF1):c.3721C>T (p.Arg1241Ter) rs137854562
NM_000267.3(NF1):c.3732_3742del (p.Thr1245fs) rs1597722429
NM_000267.3(NF1):c.3739_3742del (p.Phe1247fs) rs1064794276
NM_000267.3(NF1):c.3763C>T (p.Gln1255Ter) rs1060500308
NM_000267.3(NF1):c.3773G>A (p.Trp1258Ter) rs1555615458
NM_000267.3(NF1):c.3821dup (p.Phe1275fs) rs786203614
NM_000267.3(NF1):c.3822_3823del rs1555615472
NM_000267.3(NF1):c.3826C>T (p.Arg1276Ter) rs199474742
NM_000267.3(NF1):c.3827G>C (p.Arg1276Pro) rs137854556
NM_000267.3(NF1):c.3834C>G (p.Asn1278Lys) rs1135402850
NM_000267.3(NF1):c.3870+1G>T rs1131691075
NM_000267.3(NF1):c.3871-2A>G rs1131691077
NM_000267.3(NF1):c.3897del (p.Lys1299fs) rs878853890
NM_000267.3(NF1):c.3911del (p.Leu1304fs) rs1555615549
NM_000267.3(NF1):c.3916C>T (p.Arg1306Ter) rs376576925
NM_000267.3(NF1):c.3974+1G>A rs1567852849
NM_000267.3(NF1):c.3974+1G>C rs1567852849
NM_000267.3(NF1):c.3974G>C (p.Arg1325Thr) rs863224447
NM_000267.3(NF1):c.3975-2A>G rs864622431
NM_000267.3(NF1):c.397del (p.Glu133fs) rs878853891
NM_000267.3(NF1):c.3986C>A (p.Ser1329Ter) rs1060500319
NM_000267.3(NF1):c.4000G>T (p.Glu1334Ter) rs878853892
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.4044del (p.His1348fs) rs1567858344
NM_000267.3(NF1):c.4068_4069del (p.Glu1356fs) rs1597735186
NM_000267.3(NF1):c.4070del (p.Phe1357fs) rs1555617354
NM_000267.3(NF1):c.4076del (p.Pro1359fs) rs1135402852
NM_000267.3(NF1):c.4084C>T (p.Arg1362Ter) rs137854560
NM_000267.3(NF1):c.4110+1G>A rs1555617383
NM_000267.3(NF1):c.4110+1G>T rs1555617383
NM_000267.3(NF1):c.4111-2A>G rs1555618489
NM_000267.3(NF1):c.4120C>T (p.Gln1374Ter) rs1555618494
NM_000267.3(NF1):c.412G>C (p.Ala138Pro) rs1597635936
NM_000267.3(NF1):c.4166del (p.Phe1389fs) rs1555618511
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.4199del (p.Pro1400fs) rs1567861977
NM_000267.3(NF1):c.4230_4231dup (p.Pro1411fs) rs1555618552
NM_000267.3(NF1):c.4243G>T (p.Glu1415Ter) rs876660428
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.4268A>G (p.Lys1423Arg) rs199474781
NM_000267.3(NF1):c.4269+1G>A rs1555618572
NM_000267.3(NF1):c.4269+1G>T rs1555618572
NM_000267.3(NF1):c.4269+2T>C rs786204207
NM_000267.3(NF1):c.4269G>C (p.Lys1423Asn) rs199474750
NM_000267.3(NF1):c.4276C>G (p.Gln1426Glu) rs1135402857
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.4289A>T (p.Asn1430Ile) rs199474754
NM_000267.3(NF1):c.4306A>G (p.Lys1436Glu) rs878853893
NM_000267.3(NF1):c.4312G>T (p.Glu1438Ter) rs1597745663
NM_000267.3(NF1):c.4367+1G>A rs773151680
NM_000267.3(NF1):c.4367+1G>C rs773151680
NM_000267.3(NF1):c.4368-?_5943+?del
NM_000267.3(NF1):c.4375del (p.Asp1460fs) rs1555618806
NM_000267.3(NF1):c.4393del (p.Cys1465fs) rs1567862860
NM_000267.3(NF1):c.4397del (p.Pro1466fs) rs1135402861
NM_000267.3(NF1):c.4402A>G (p.Ser1468Gly) rs199474743
NM_000267.3(NF1):c.4419_4420del (p.His1473fs) rs1555618821
NM_000267.3(NF1):c.4420dup (p.Ser1474fs) rs878853896
NM_000267.3(NF1):c.4432delinsTG (p.Ile1478fs) rs1597747012
NM_000267.3(NF1):c.4457T>G (p.Leu1486Ter) rs1135402863
NM_000267.3(NF1):c.4463del (p.Arg1488fs) rs1567862956
NM_000267.3(NF1):c.4480C>T (p.Gln1494Ter) rs1567862991
NM_000267.3(NF1):c.4483G>T (p.Glu1495Ter) rs786203390
NM_000267.3(NF1):c.4495C>T (p.Gln1499Ter) rs1060500242
NM_000267.3(NF1):c.449del (p.Phe150fs) rs1567817974
NM_000267.3(NF1):c.4511dup (p.Asn1504fs) rs1555618862
NM_000267.3(NF1):c.4514+1G>A rs1279529138
NM_000267.3(NF1):c.4514+1G>T rs1279529138
NM_000267.3(NF1):c.4515-2A>G rs1555618996
NM_000267.3(NF1):c.4535del (p.Arg1512fs) rs1060500292
NM_000267.3(NF1):c.4537C>T (p.Arg1513Ter) rs760703505
NM_000267.3(NF1):c.4554_4567dup (p.Ala1523fs) rs1567863580
NM_000267.3(NF1):c.4572C>G (p.Tyr1524Ter) rs754023358
NM_000267.3(NF1):c.4600del (p.Ala1534fs) rs1567863614
NM_000267.3(NF1):c.4606dup (p.Thr1536fs) rs1555619033
NM_000267.3(NF1):c.4621del (p.Asn1542fs) rs1555619041
NM_000267.3(NF1):c.4640del (p.Lys1547fs) rs1555619052
NM_000267.3(NF1):c.4640dup (p.Phe1548fs) rs1555619052
NM_000267.3(NF1):c.4648G>T (p.Glu1550Ter) rs1567863648
NM_000267.3(NF1):c.4661+1G>A rs1555619056
NM_000267.3(NF1):c.4666C>T (p.Gln1556Ter) rs797044942
NM_000267.3(NF1):c.4675_4682delinsAAAAAGG (p.Glu1559fs) rs1597753176
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.4686del (p.Glu1562fs) rs1567864983
NM_000267.3(NF1):c.4707_4714del (p.Leu1569fs) rs1555619402
NM_000267.3(NF1):c.4720C>T (p.Gln1574Ter) rs1597753263
NM_000267.3(NF1):c.4756del (p.Tyr1586fs) rs876658492
NM_000267.3(NF1):c.4769_4771delinsAC (p.Arg1590fs) rs1597753353
NM_000267.3(NF1):c.4773-1G>C rs1057518326
NM_000267.3(NF1):c.4786_4790delinsATATCAG (p.Gln1596fs) rs1597829519
NM_000267.3(NF1):c.479+1G>A rs1555606137
NM_000267.3(NF1):c.479+5G>A rs1567818033
NM_000267.3(NF1):c.4808_4809TA[3] (p.His1605fs) rs1555533284
NM_000267.3(NF1):c.4809dup (p.Tyr1604fs) rs1597829557
NM_000267.3(NF1):c.480delG rs1597643722
NM_000267.3(NF1):c.4829del (p.Thr1609_Leu1610insTer) rs1555533290
NM_000267.3(NF1):c.484C>T (p.Gln162Ter) rs1555607073
NM_000267.3(NF1):c.4854T>A (p.Tyr1618Ter) rs1555533297
NM_000267.3(NF1):c.4894_4901del (p.Arg1632fs) rs1597829749
NM_000267.3(NF1):c.4903del (p.Thr1635fs) rs1567611351
NM_000267.3(NF1):c.4904_4905del (p.Thr1635fs) rs1555533323
NM_000267.3(NF1):c.4914_4917del rs1085307459
NM_000267.3(NF1):c.4922G>A (p.Trp1641Ter) rs1567611375
NM_000267.3(NF1):c.4926del (p.Phe1642fs) rs1567611380
NM_000267.3(NF1):c.4950C>A (p.Tyr1650Ter) rs1060500255
NM_000267.3(NF1):c.4950_4954dup (p.Asn1652fs) rs1555533336
NM_000267.3(NF1):c.496_497del (p.Val166fs) rs1135402788
NM_000267.3(NF1):c.4973_4978del rs1135402868
NM_000267.3(NF1):c.4992G>A (p.Trp1664Ter) rs1555533354
NM_000267.3(NF1):c.5020_5021dup (p.Leu1675fs) rs1555533366
NM_000267.3(NF1):c.503C>G (p.Ser168Ter) rs1131691994
NM_000267.3(NF1):c.5115del (p.Pro1706fs) rs1555533393
NM_000267.3(NF1):c.5129T>A (p.Leu1710Ter) rs1567611604
NM_000267.3(NF1):c.5205+5G>A rs864622551
NM_000267.3(NF1):c.5206-1G>A rs876660141
NM_000267.3(NF1):c.5206-41_5228del rs1555533543
NM_000267.3(NF1):c.5206delG rs1555533549
NM_000267.3(NF1):c.5223_5226del (p.Val1741_Gln1742insTer) rs1597831854
NM_000267.3(NF1):c.5284del (p.Tyr1762fs) rs1567612415
NM_000267.3(NF1):c.529dup (p.Ile177fs) rs1555607093
NM_000267.3(NF1):c.5305G>T (p.Glu1769Ter) rs1597831990
NM_000267.3(NF1):c.5313_5316dup (p.Val1773fs) rs1567612435
NM_000267.3(NF1):c.5364dup (p.Leu1789fs) rs1567612483
NM_000267.3(NF1):c.5398del (p.Val1800fs) rs1567612531
NM_000267.3(NF1):c.5406_5407insTT (p.Ile1803fs) rs267606605
NM_000267.3(NF1):c.5406dup (p.Ile1803fs) rs267606605
NM_000267.3(NF1):c.541C>T (p.Gln181Ter) rs753529924
NM_000267.3(NF1):c.5425C>T (p.Arg1809Cys) rs797045139
NM_000267.3(NF1):c.5426G>T (p.Arg1809Leu) rs771529172
NM_000267.3(NF1):c.5429G>A (p.Trp1810Ter) rs1135402872
NM_000267.3(NF1):c.5438C>G (p.Ser1813Ter) rs1597832235
NM_000267.3(NF1):c.5458C>T (p.Gln1820Ter) rs786203570
NM_000267.3(NF1):c.5472del (p.Arg1825fs) rs1567612647
NM_000267.3(NF1):c.5498T>G (p.Leu1833Arg) rs878853903
NM_000267.3(NF1):c.5498del (p.Leu1833fs) rs1555533644
NM_000267.3(NF1):c.5523del (p.Gly1842fs) rs1555533648
NM_000267.3(NF1):c.5543T>G (p.Leu1848Ter) rs1597832482
NM_000267.3(NF1):c.5546+1G>A rs1131691117
NM_000267.3(NF1):c.5546G>A (p.Arg1849Gln) rs786202112
NM_000267.3(NF1):c.5547-1G>C rs1567613569
NM_000267.3(NF1):c.5582dup (p.Cys1861fs) rs1567613604
NM_000267.3(NF1):c.5587T>C (p.Phe1863Leu) rs1060500378
NM_000267.3(NF1):c.5606_5627del (p.Gly1869fs) rs1597834703
NM_000267.3(NF1):c.5608C>T (p.Gln1870Ter) rs878853904
NM_000267.3(NF1):c.5617G>T (p.Glu1873Ter) rs774893767
NM_000267.3(NF1):c.5624C>G (p.Ser1875Ter) rs1135402879
NM_000267.3(NF1):c.5636del (p.Ile1879fs) rs1060500353
NM_000267.3(NF1):c.5660_5679del (p.Ile1887fs) rs1567613682
NM_000267.3(NF1):c.5667dup (p.Ile1890fs) rs876660212
NM_000267.3(NF1):c.5668_5671dup (p.Ser1891delinsAsnTer) rs1555533871
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.5708T>A (p.Leu1903Ter) rs1198491194
NM_000267.3(NF1):c.5723del (p.Glu1908fs) rs1555533883
NM_000267.3(NF1):c.5749+1G>A 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+4A>T rs1597834988
NM_000267.3(NF1):c.5749+5G>A rs1555533889
NM_000267.3(NF1):c.574C>T (p.Arg192Ter) rs397514641
NM_000267.3(NF1):c.5770del (p.Cys1924fs) rs1555534379
NM_000267.3(NF1):c.5776G>T (p.Glu1926Ter) rs587782088
NM_000267.3(NF1):c.581T>C (p.Leu194Pro) rs199474753
NM_000267.3(NF1):c.5839C>T (p.Arg1947Ter) rs137854552
NM_000267.3(NF1):c.5844_5845del (p.Arg1949fs) rs863224835
NM_000267.3(NF1):c.5845_5846insTA (p.Arg1949fs) rs1060500354
NM_000267.3(NF1):c.586+1G>A rs1555607126
NM_000267.3(NF1):c.5862del (p.Asp1955fs) rs1060500349
NM_000267.3(NF1):c.5880del (p.Met1960fs) rs1567615872
NM_000267.3(NF1):c.5896C>T (p.Gln1966Ter) rs876659070
NM_000267.3(NF1):c.58C>T (p.Gln20Ter) rs1567786905
NM_000267.3(NF1):c.5904C>G (p.Tyr1968Ter) rs1567615902
NM_000267.3(NF1):c.5908_5915del (p.Ile1971fs) rs1597840273
NM_000267.3(NF1):c.5928G>A (p.Trp1976Ter) rs876660696
NM_000267.3(NF1):c.592del (p.Ala198fs) rs1567825858
NM_000267.3(NF1):c.5941C>T (p.Gln1981Ter) rs1567615941
NM_000267.3(NF1):c.5943+1G>A rs1555534433
NM_000267.3(NF1):c.5944-5A>G rs267606604
NM_000267.3(NF1):c.594del (p.Phe199fs) rs1555608647
NM_000267.3(NF1):c.6027dup (p.Met2010fs) rs1555534611
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.6111del (p.Ile2037fs) rs1567616894
NM_000267.3(NF1):c.6212del (p.Asn2071fs) rs1555534697
NM_000267.3(NF1):c.6253_6296dup (p.Ser2100_Thr2101insLeuLeuLeuSerTer) rs1567617045
NM_000267.3(NF1):c.6278_6279del (p.Gly2093fs) rs1597843052
NM_000267.3(NF1):c.6302_6303insGG (p.His2102fs) rs1555534751
NM_000267.3(NF1):c.6334_6335del rs1567617129
NM_000267.3(NF1):c.6339T>A (p.Cys2113Ter) rs1555534766
NM_000267.3(NF1):c.6364+2T>G rs1567617158
NM_000267.3(NF1):c.6365-2A>C rs1060500312
NM_000267.3(NF1):c.6365-2A>G rs1060500312
NM_000267.3(NF1):c.6373A>T (p.Lys2125Ter) rs1597843675
NM_000267.3(NF1):c.6376C>T (p.Gln2126Ter) rs1555534859
NM_000267.3(NF1):c.6399dup (p.Glu2134fs) rs1135402888
NM_000267.3(NF1):c.6424_6425del (p.Leu2142fs) rs1060500338
NM_000267.3(NF1):c.647T>C (p.Leu216Pro) rs199474756
NM_000267.3(NF1):c.649G>T (p.Glu217Ter) rs878853909
NM_000267.3(NF1):c.6522_6523del rs1131691084
NM_000267.3(NF1):c.655-2A>C rs1555608734
NM_000267.3(NF1):c.6579+1G>T rs1060500345
NM_000267.3(NF1):c.6585C>A (p.Cys2195Ter) rs1597844556
NM_000267.3(NF1):c.6604del (p.Cys2202fs) rs1555534917
NM_000267.3(NF1):c.6636del (p.Gln2213fs) rs1060500268
NM_000267.3(NF1):c.6637C>T (p.Gln2213Ter) rs1567617727
NM_000267.3(NF1):c.6641+1G>A rs1060500376
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) rs1597845013
NM_000267.3(NF1):c.668G>A (p.Trp223Ter) rs1567826110
NM_000267.3(NF1):c.669G>A (p.Trp223Ter) rs1057517967
NM_000267.3(NF1):c.6709C>T (p.Arg2237Ter) rs876658541
NM_000267.3(NF1):c.6756+3A>G rs1555534966
NM_000267.3(NF1):c.6772_6773dup (p.Leu2258fs) rs1597845926
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.6798_6801dup (p.Val2268fs) rs1567618250
NM_000267.3(NF1):c.6801A>G (p.Gln2267=) rs1064794756
NM_000267.3(NF1):c.681T>A (p.Tyr227Ter) rs745804540
NM_000267.3(NF1):c.681T>G (p.Tyr227Ter) rs745804540
NM_000267.3(NF1):c.6837dup (p.Leu2280fs) rs1555535050
NM_000267.3(NF1):c.6841C>T (p.Gln2281Ter) rs1057518807
NM_000267.3(NF1):c.6858+1G>A rs1060500355
NM_000267.3(NF1):c.6952G>T (p.Glu2318Ter) rs1060500359
NM_000267.3(NF1):c.6971_6978del (p.Leu2324fs) rs1555535192
NM_000267.3(NF1):c.6974_6977del (p.Asp2325fs) rs1597848201
NM_000267.3(NF1):c.6999+1G>A rs863224492
NM_000267.3(NF1):c.7000-1G>T rs1131691114
NM_000267.3(NF1):c.7000-2A>G rs1597851255
NM_000267.3(NF1):c.7044G>A (p.Trp2348Ter) rs1060500286
NM_000267.3(NF1):c.7054C>T (p.Gln2352Ter) rs1555535417
NM_000267.3(NF1):c.7089_7090insTT (p.Asn2364fs) rs1555535434
NM_000267.3(NF1):c.7096_7101del rs864622639
NM_000267.3(NF1):c.7125del (p.Tyr2377fs) rs777872719
NM_000267.3(NF1):c.7126+1G>A rs1555535455
NM_000267.3(NF1):c.7127-2A>G rs772348111
NM_000267.3(NF1):c.7128delG rs1597858338
NM_000267.3(NF1):c.715C>T (p.Gln239Ter) rs1597658676
NM_000267.3(NF1):c.7175T>A (p.Leu2392Ter) rs775181940
NM_000267.3(NF1):c.7192_7193del rs1597858459
NM_000267.3(NF1):c.7202_7205del rs1567623480
NM_000267.3(NF1):c.7206_7207del rs878853913
NM_000267.3(NF1):c.7211del (p.Asn2404fs) rs1555536030
NM_000267.3(NF1):c.724dup (p.Met242fs) rs1555608763
NM_000267.3(NF1):c.7251C>G (p.Tyr2417Ter) rs1060500385
NM_000267.3(NF1):c.7257del (p.Ala2420fs) rs1060500300
NM_000267.3(NF1):c.7267dup (p.Thr2423fs) rs1064794278
NM_000267.3(NF1):c.7285C>T (p.Arg2429Ter) rs786202457
NM_000267.3(NF1):c.730+1G>A rs1060500274
NM_000267.3(NF1):c.730+1G>C rs1060500274
NM_000267.3(NF1):c.730+1G>T rs1060500274
NM_000267.3(NF1):c.731-1G>A rs1555608928
NM_000267.3(NF1):c.731-2A>T rs1555608924
NM_000267.3(NF1):c.7310del (p.Arg2437fs) rs1060500335
NM_000267.3(NF1):c.7329del (p.Asp2444fs) rs786202180
NM_000267.3(NF1):c.7346dup (p.Asn2449fs) rs1135402906
NM_000267.3(NF1):c.7352del (p.Pro2451fs) rs1597859768
NM_000267.3(NF1):c.7365T>A (p.Tyr2455Ter) rs181397225
NM_000267.3(NF1):c.7392T>A (p.Tyr2464Ter) rs1597859871
NM_000267.3(NF1):c.7411C>T (p.Gln2471Ter) rs1555536340
NM_000267.3(NF1):c.7419G>A (p.Trp2473Ter) rs863224493
NM_000267.3(NF1):c.7433del (p.Gly2478fs) rs1555536352
NM_000267.3(NF1):c.7486C>T (p.Arg2496Ter) rs866445127
NM_000267.3(NF1):c.750del (p.Phe250fs) rs1567826633
NM_000267.3(NF1):c.7518del (p.Gln2507fs) rs878853917
NM_000267.3(NF1):c.7528C>T (p.Gln2510Ter) rs1555536372
NM_000267.3(NF1):c.7544del (p.Lys2515fs) rs1060500327
NM_000267.3(NF1):c.7638del (p.Lys2547_Met2548insTer) rs1060500295
NM_000267.3(NF1):c.7638dup (p.Lys2547fs) rs1060500295
NM_000267.3(NF1):c.7682dup (p.Arg2562fs) rs1555536683
NM_000267.3(NF1):c.7684_7685del rs1135402907
NM_000267.3(NF1):c.7694_7695dup (p.Ser2566fs) rs1597866350
NM_000267.3(NF1):c.7721_7722del (p.Lys2574fs) rs1597866414
NM_000267.3(NF1):c.7727C>A (p.Ser2576Ter) rs1567626945
NM_000267.3(NF1):c.7734dup (p.Glu2579Ter) rs863224837
NM_000267.3(NF1):c.7806+1G>A rs1329683225
NM_000267.3(NF1):c.7846C>T (p.Arg2616Ter) rs786201367
NM_000267.3(NF1):c.7854_7855insA (p.Tyr2619fs) rs1597866897
NM_000267.3(NF1):c.7857T>G (p.Tyr2619Ter) rs1060500333
NM_000267.3(NF1):c.7858del (p.Glu2620fs) rs1567627210
NM_000267.3(NF1):c.7863C>G (p.Tyr2621Ter) rs1567627217
NM_000267.3(NF1):c.7868dup (p.Glu2624fs) rs878853918
NM_000267.3(NF1):c.7892_7893del (p.Lys2631fs) rs1555536765
NM_000267.3(NF1):c.7893dup (p.Val2632fs) rs1555536765
NM_000267.3(NF1):c.7901del (p.Pro2634fs) rs1567627268
NM_000267.3(NF1):c.7926dup (p.Lys2643Ter) rs1555536882
NM_000267.3(NF1):c.7954C>T (p.Gln2652Ter) rs1567627751
NM_000267.3(NF1):c.7970del (p.Leu2656_Leu2657insTer) rs1567627755
NM_000267.3(NF1):c.7996_7997del rs1060500387
NM_000267.3(NF1):c.79C>T (p.Gln27Ter) rs1060500363
NM_000267.3(NF1):c.8003del (p.Val2668fs) rs1555536923
NM_000267.3(NF1):c.801G>A (p.Trp267Ter) rs1064794273
NM_000267.3(NF1):c.8021_8026delinsA (p.Pro2674fs) rs1597868244
NM_000267.3(NF1):c.8049_8050del (p.Ser2684fs) rs1555536947
NM_000267.3(NF1):c.808C>T (p.Gln270Ter) rs1555608970
NM_000267.3(NF1):c.8095A>T (p.Lys2699Ter) rs1597868832
NM_000267.3(NF1):c.8142_8151del (p.Asp2715fs) rs1597870141
NM_000267.3(NF1):c.844C>T (p.Gln282Ter) rs753054046
NM_000267.3(NF1):c.882_885del (p.Met294fs) rs1567826819
NM_000267.3(NF1):c.886A>T (p.Lys296Ter) rs1135402798
NM_000267.3(NF1):c.888+1G>A rs1135402799
NM_000267.3(NF1):c.889-1G>A rs587781517
NM_000267.3(NF1):c.889-1G>C rs587781517
NM_000267.3(NF1):c.889-2A>G rs878853922
NM_000267.3(NF1):c.889-2del rs1567834983
NM_000267.3(NF1):c.908del (p.Leu303fs) rs1555610848
NM_000267.3(NF1):c.909_910delinsTT (p.Arg304Ter) rs1555610854
NM_000267.3(NF1):c.910C>T (p.Arg304Ter) rs786203950
NM_000267.3(NF1):c.924_927del (p.Gly309fs) rs1060500301
NM_000267.3(NF1):c.943C>T (p.Gln315Ter) rs766011053
NM_000267.3(NF1):c.952del (p.Glu318fs) rs1555610881
NM_000267.3(NF1):c.955dup (p.Ser319fs) rs876660931
NM_000267.3(NF1):c.972T>A (p.Cys324Ter) rs1597680938
NM_000267.3(NF1):c.97A>T (p.Lys33Ter) rs1060500324
NM_000267.3(NF1):c.983_984del rs1555610893
NM_000267.3(NF1):c.988_995del (p.Ala330fs) rs1567835161
NM_000267.3(NF1):c.996_999del (p.Tyr333fs) rs1555610900
NM_000267.3(NF1):c.999C>G (p.Tyr333Ter) rs1466912192
NM_000267.3(NF1):c.99del (p.Val34fs) rs1060500320
NM_000267.3:c.1491_4110+4407del
NM_000267.3:c.4516del
NM_001042492.2(NF1):c.2033del (p.Pro678fs) rs587781807
NM_001042492.2(NF1):c.2148_2159delinsTGAAGTGTCT (p.Glu716fs) rs1567847538
NM_001042492.2(NF1):c.2208_2209CA[1] (p.Thr737fs) rs1555613831
NM_001042492.2(NF1):c.3299_3300CA[1] (p.Gln1101fs) rs1555614866
NM_001042492.2(NF1):c.4983_4985delinsCTTA (p.Lys1661fs) rs1555533326
NM_001042492.2(NF1):c.5039_5041delinsT (p.Tyr1680fs) rs1567611457
NM_001042492.2(NF1):c.5727_5728CT[1] (p.Ser1910fs) rs1597834820
NM_001042492.2(NF1):c.6852_6855del (p.Tyr2285fs) rs1555535032
NM_001042492.2(NF1):c.7301_7302AG[1] (p.Ser2435fs) rs1597858594
NM_001042492.2(NF1):c.7324_7327TTAC[1] (p.Leu2443fs) rs1597859566
NM_001042492.2(NF1):c.7662_7664delinsAG (p.Lys2555fs) rs1567626632
NM_001042492.2(NF1):c.8052_8053TG[1] (p.Val2685fs) rs1597868171
NM_001042492.2(NF1):c.87_88CA[2] (p.His31fs) rs1567814432
NM_001042492.2(NF1):c.920_921delinsA (p.Leu307fs) rs1555610860
NM_001042492.2(NF1):c.997del (p.Tyr333fs) rs1567835183
NM_001042492.3(NF1):c.1007G>A (p.Trp336Ter)
NM_001042492.3(NF1):c.1017_1018CT[1] (p.Ser340fs) rs1555610903
NM_001042492.3(NF1):c.1034_1035insGTTTTCCTACT (p.Val346fs)
NM_001042492.3(NF1):c.1036del (p.Val346fs)
NM_001042492.3(NF1):c.1062+2T>C
NM_001042492.3(NF1):c.1062+2T>G
NM_001042492.3(NF1):c.1066del (p.Leu356fs) rs1597681864
NM_001042492.3(NF1):c.1097dup (p.Gly367fs)
NM_001042492.3(NF1):c.1103dup (p.Ser368fs)
NM_001042492.3(NF1):c.1110del (p.Ala371fs)
NM_001042492.3(NF1):c.1121_1122del (p.Asp374fs) rs1597682030
NM_001042492.3(NF1):c.1153del (p.Arg385fs)
NM_001042492.3(NF1):c.1182dup (p.Lys395Ter) rs1597682159
NM_001042492.3(NF1):c.1185+1G>T
NM_001042492.3(NF1):c.1185+2T>C
NM_001042492.3(NF1):c.1192del (p.Leu398fs)
NM_001042492.3(NF1):c.1224T>G (p.Tyr408Ter)
NM_001042492.3(NF1):c.1260+1G>C
NM_001042492.3(NF1):c.1261-2A>G
NM_001042492.3(NF1):c.1261-2A>T
NM_001042492.3(NF1):c.1261_1268delinsCCC (p.Ser421fs)
NM_001042492.3(NF1):c.1275G>A (p.Trp425Ter)
NM_001042492.3(NF1):c.1296_1297dup (p.Tyr433fs)
NM_001042492.3(NF1):c.1296delinsATA (p.Cys434fs)
NM_001042492.3(NF1):c.1346_1347dup (p.Ala450fs)
NM_001042492.3(NF1):c.1348_1349dup (p.Val451fs)
NM_001042492.3(NF1):c.1362T>A (p.Cys454Ter)
NM_001042492.3(NF1):c.1394del (p.Ser465fs)
NM_001042492.3(NF1):c.1408G>T (p.Glu470Ter) rs1597698330
NM_001042492.3(NF1):c.1477_1481del (p.Leu493fs)
NM_001042492.3(NF1):c.147C>G (p.Tyr49Ter)
NM_001042492.3(NF1):c.1522del (p.Leu508fs)
NM_001042492.3(NF1):c.1555C>T (p.Gln519Ter)
NM_001042492.3(NF1):c.1555del (p.Gln519fs)
NM_001042492.3(NF1):c.1564dup (p.Thr522fs)
NM_001042492.3(NF1):c.1606_1607del (p.Ser536fs)
NM_001042492.3(NF1):c.1607_1608CA[2] (p.Met538fs)
NM_001042492.3(NF1):c.1639dup (p.Glu547fs)
NM_001042492.3(NF1):c.1646del (p.Leu549fs)
NM_001042492.3(NF1):c.1663_1666del (p.Leu555fs)
NM_001042492.3(NF1):c.1671del (p.Ser557fs)
NM_001042492.3(NF1):c.1691_1692del (p.Asp564fs)
NM_001042492.3(NF1):c.1712G>A (p.Trp571Ter)
NM_001042492.3(NF1):c.1721+1G>A rs1131691096
NM_001042492.3(NF1):c.1728_1729del (p.Gln576fs)
NM_001042492.3(NF1):c.1753_1759del (p.Leu585fs)
NM_001042492.3(NF1):c.1759_1760insTAGTT (p.Ser587fs)
NM_001042492.3(NF1):c.1804dup (p.Glu602fs) rs1597708762
NM_001042492.3(NF1):c.1830_1833del (p.Leu612fs)
NM_001042492.3(NF1):c.1836_1837insSVAelement
NM_001042492.3(NF1):c.1845+2T>A
NM_001042492.3(NF1):c.1849_1850delinsTA (p.Ala617Ter)
NM_001042492.3(NF1):c.1854_1857del (p.Asp618fs)
NM_001042492.3(NF1):c.1861del (p.Ser621fs) rs1597710358
NM_001042492.3(NF1):c.1868del (p.His623fs)
NM_001042492.3(NF1):c.1884del (p.Phe627_Tyr628insTer)
NM_001042492.3(NF1):c.1888del (p.Gly629_Val630insTer)
NM_001042492.3(NF1):c.1895del (p.Cys632fs) rs1597710497
NM_001042492.3(NF1):c.1896dup (p.Asp633Ter)
NM_001042492.3(NF1):c.1924C>T (p.Gln642Ter)
NM_001042492.3(NF1):c.1942G>T (p.Glu648Ter)
NM_001042492.3(NF1):c.1946_1950dup (p.Leu651fs)
NM_001042492.3(NF1):c.1955_1956del (p.Arg652fs)
NM_001042492.3(NF1):c.1955del (p.Arg652fs) rs1597710690
NM_001042492.3(NF1):c.1995del (p.Ser666fs)
NM_001042492.3(NF1):c.204+1G>T rs886039548
NM_001042492.3(NF1):c.204+3_204+6del rs1567814632
NM_001042492.3(NF1):c.2044C>T (p.Gln682Ter) rs1597712392
NM_001042492.3(NF1):c.2049_2083del (p.Gln684fs)
NM_001042492.3(NF1):c.205-1G>A
NM_001042492.3(NF1):c.2050C>T (p.Gln684Ter)
NM_001042492.3(NF1):c.2064del (p.Val689fs)
NM_001042492.3(NF1):c.2122del (p.Ser708fs) rs1597712535
NM_001042492.3(NF1):c.2131del (p.Arg711fs)
NM_001042492.3(NF1):c.2158dup (p.Arg720fs) rs1597712619
NM_001042492.3(NF1):c.2199del (p.Asn734fs)
NM_001042492.3(NF1):c.2209del (p.Thr737fs)
NM_001042492.3(NF1):c.2229dup (p.Val744fs)
NM_001042492.3(NF1):c.2256_2257del (p.Arg752fs)
NM_001042492.3(NF1):c.2271_2272del (p.Arg758fs)
NM_001042492.3(NF1):c.2276_2280del (p.Val759fs)
NM_001042492.3(NF1):c.2276del (p.Val759fs)
NM_001042492.3(NF1):c.2292_2293GC[1] (p.Arg765fs)
NM_001042492.3(NF1):c.2293del (p.Arg765fs) rs1597713360
NM_001042492.3(NF1):c.2319dup (p.Thr774fs)
NM_001042492.3(NF1):c.2325G>C (p.Glu775Asp)
NM_001042492.3(NF1):c.2330G>A (p.Trp777Ter)
NM_001042492.3(NF1):c.2350_2378dup (p.Tyr794_Pro795insGlyAsnLysGlnGlnSerTer)
NM_001042492.3(NF1):c.2353dup (p.Glu785fs)
NM_001042492.3(NF1):c.2369_2370dup (p.Ile791Ter)
NM_001042492.3(NF1):c.2398del (p.Glu800fs)
NM_001042492.3(NF1):c.2419del (p.Ser807fs)
NM_001042492.3(NF1):c.2439_2440insG (p.Lys814fs)
NM_001042492.3(NF1):c.2458del (p.His819_Val820insTer) rs1597715179
NM_001042492.3(NF1):c.2464G>T (p.Gly822Ter)
NM_001042492.3(NF1):c.2481_2491del (p.Leu828fs)
NM_001042492.3(NF1):c.2485_2494del (p.Ser829fs)
NM_001042492.3(NF1):c.2506G>T (p.Glu836Ter)
NM_001042492.3(NF1):c.2521_2524dup (p.Gly842fs)
NM_001042492.3(NF1):c.2525del (p.Gly842fs) rs1597715284
NM_001042492.3(NF1):c.2539dup (p.Leu847fs)
NM_001042492.3(NF1):c.2546dup (p.Val850fs)
NM_001042492.3(NF1):c.2596_2600dup (p.Met867fs)
NM_001042492.3(NF1):c.2679del (p.Lys893fs)
NM_001042492.3(NF1):c.2724dup (p.Val909fs)
NM_001042492.3(NF1):c.2728_2729del (p.Gly910fs)
NM_001042492.3(NF1):c.2748dup (p.Val917fs)
NM_001042492.3(NF1):c.2765del (p.Gly922fs)
NM_001042492.3(NF1):c.2774T>A (p.Leu925Ter)
NM_001042492.3(NF1):c.2800_2801insGT (p.Phe934fs)
NM_001042492.3(NF1):c.2810T>A (p.Leu937Ter)
NM_001042492.3(NF1):c.2810del (p.Lys936_Leu937insTer)
NM_001042492.3(NF1):c.2824del (p.Ser942fs)
NM_001042492.3(NF1):c.2835dup (p.Asp946Ter)
NM_001042492.3(NF1):c.2842del (p.Gln948fs)
NM_001042492.3(NF1):c.288+1G>A
NM_001042492.3(NF1):c.2883del (p.Glu962fs)
NM_001042492.3(NF1):c.2900dup (p.Met968fs)
NM_001042492.3(NF1):c.2991-1G>T
NM_001042492.3(NF1):c.2991-2A>T
NM_001042492.3(NF1):c.3034A>T (p.Lys1012Ter)
NM_001042492.3(NF1):c.3045_3046GT[1] (p.Cys1016fs) rs1597716910
NM_001042492.3(NF1):c.3049C>T (p.Gln1017Ter)
NM_001042492.3(NF1):c.3051del (p.Gln1017fs)
NM_001042492.3(NF1):c.3058G>T (p.Glu1020Ter)
NM_001042492.3(NF1):c.3058del (p.Glu1020fs)
NM_001042492.3(NF1):c.3096C>A (p.Cys1032Ter)
NM_001042492.3(NF1):c.3186dup (p.Cys1063fs) rs1597717672
NM_001042492.3(NF1):c.3198-314G>A
NM_001042492.3(NF1):c.3207_3208delinsTT (p.Gln1070Ter)
NM_001042492.3(NF1):c.3212del (p.Ala1071fs) rs1597718735
NM_001042492.3(NF1):c.3215_3216del (p.Ser1072fs)
NM_001042492.3(NF1):c.3220G>T (p.Glu1074Ter)
NM_001042492.3(NF1):c.3233C>G (p.Ser1078Ter)
NM_001042492.3(NF1):c.3243del (p.Gly1082fs)
NM_001042492.3(NF1):c.3262_3263del (p.Glu1088fs)
NM_001042492.3(NF1):c.3270_3271insC (p.Asp1091fs)
NM_001042492.3(NF1):c.3276del (p.Val1093fs)
NM_001042492.3(NF1):c.3299C>A (p.Ser1100Ter)
NM_001042492.3(NF1):c.3305T>G (p.Leu1102Ter)
NM_001042492.3(NF1):c.3329_3332del (p.Leu1109_Phe1110insTer)
NM_001042492.3(NF1):c.3331del (p.Phe1110_Met1111insTer)
NM_001042492.3(NF1):c.3370dup (p.Ser1124fs) rs1597719471
NM_001042492.3(NF1):c.3380dup (p.Gly1128fs)
NM_001042492.3(NF1):c.338T>A (p.Leu113Ter)
NM_001042492.3(NF1):c.338dup (p.Leu113fs) rs1597635740
NM_001042492.3(NF1):c.3392_3401del (p.Lys1131fs)
NM_001042492.3(NF1):c.3443del (p.Ala1148fs)
NM_001042492.3(NF1):c.3456dup (p.Leu1153fs) rs1430634618
NM_001042492.3(NF1):c.3461dup (p.Asn1154fs) rs1597719643
NM_001042492.3(NF1):c.3496+1G>C
NM_001042492.3(NF1):c.349del (p.Ile117fs)
NM_001042492.3(NF1):c.3505dup (p.Tyr1169fs)
NM_001042492.3(NF1):c.3573_3574inv (p.Glu1192Ter)
NM_001042492.3(NF1):c.3585_3586del (p.Leu1196fs)
NM_001042492.3(NF1):c.3658_3659insTTTG (p.Glu1220delinsValTer)
NM_001042492.3(NF1):c.3662T>G (p.Leu1221Arg)
NM_001042492.3(NF1):c.3708G>A (p.Trp1236Ter)
NM_001042492.3(NF1):c.3709-2A>G
NM_001042492.3(NF1):c.370del (p.Cys124fs) rs1597635825
NM_001042492.3(NF1):c.3755T>A (p.Leu1252Ter)
NM_001042492.3(NF1):c.3777_3778del (p.Met1260fs)
NM_001042492.3(NF1):c.3786_3787insSVAelement
NM_001042492.3(NF1):c.3810_3820del (p.Met1271fs)
NM_001042492.3(NF1):c.3814C>T (p.Gln1272Ter)
NM_001042492.3(NF1):c.3826del (p.Arg1276fs)
NM_001042492.3(NF1):c.3827G>A (p.Arg1276Gln) rs137854556
NM_001042492.3(NF1):c.3853del (p.Ile1284_Met1285insTer)
NM_001042492.3(NF1):c.3866dup (p.Lys1290fs)
NM_001042492.3(NF1):c.3869del (p.Lys1290fs)
NM_001042492.3(NF1):c.3870+1G>C
NM_001042492.3(NF1):c.3873_3875dup (p.Tyr1292Ter)
NM_001042492.3(NF1):c.3884_3887del (p.Thr1295fs)
NM_001042492.3(NF1):c.3892C>T (p.Gln1298Ter)
NM_001042492.3(NF1):c.3926del (p.Ile1309fs)
NM_001042492.3(NF1):c.3942G>A (p.Trp1314Ter)
NM_001042492.3(NF1):c.3943C>T (p.Gln1315Ter)
NM_001042492.3(NF1):c.3964del (p.Asp1322fs)
NM_001042492.3(NF1):c.3975-2A>T
NM_001042492.3(NF1):c.3977T>G (p.Leu1326Ter)
NM_001042492.3(NF1):c.4034del (p.Lys1345fs)
NM_001042492.3(NF1):c.403del (p.Arg135fs)
NM_001042492.3(NF1):c.4042del (p.His1348fs)
NM_001042492.3(NF1):c.4051dup (p.Ile1351fs)
NM_001042492.3(NF1):c.4062del (p.Ser1355fs) rs1597735166
NM_001042492.3(NF1):c.4065del (p.Glu1356fs)
NM_001042492.3(NF1):c.4068del (p.Glu1356fs)
NM_001042492.3(NF1):c.4076dup (p.Gln1360fs)
NM_001042492.3(NF1):c.4107C>G (p.Tyr1369Ter)
NM_001042492.3(NF1):c.4108C>T (p.Gln1370Ter)
NM_001042492.3(NF1):c.4108del (p.Gln1370fs) rs1597735273
NM_001042492.3(NF1):c.4176_4177insT (p.Val1393fs)
NM_001042492.3(NF1):c.4216G>T (p.Gly1406Ter)
NM_001042492.3(NF1):c.4239del (p.Phe1413fs)
NM_001042492.3(NF1):c.4245T>G (p.Asn1415Lys)
NM_001042492.3(NF1):c.4275dup (p.Ile1426fs)
NM_001042492.3(NF1):c.4280T>G (p.Leu1427Ter)
NM_001042492.3(NF1):c.4298del (p.Pro1433fs)
NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu) rs137854550
NM_001042492.3(NF1):c.4330A>T (p.Lys1444Ter)
NM_001042492.3(NF1):c.4333-1G>C
NM_001042492.3(NF1):c.4340_4341delinsCA (p.Gln1447Pro)
NM_001042492.3(NF1):c.439_445dup (p.Asn149fs)
NM_001042492.3(NF1):c.4404del (p.Ser1470fs) rs1597745728
NM_001042492.3(NF1):c.4431-1G>A
NM_001042492.3(NF1):c.4436del (p.Phe1479fs)
NM_001042492.3(NF1):c.4481del (p.His1494fs) rs1597746982
NM_001042492.3(NF1):c.4521dup (p.His1508fs)
NM_001042492.3(NF1):c.4577+2T>G
NM_001042492.3(NF1):c.4578-1G>A
NM_001042492.3(NF1):c.4578-2A>C
NM_001042492.3(NF1):c.4581del (p.His1528fs) rs1597748682
NM_001042492.3(NF1):c.4590del (p.Val1531fs)
NM_001042492.3(NF1):c.4618del (p.Ala1540fs) rs1597748742
NM_001042492.3(NF1):c.461_462del (p.Val153_Phe154insTer)
NM_001042492.3(NF1):c.4621_4622insG (p.Thr1541fs)
NM_001042492.3(NF1):c.4631del (p.Ala1544fs) rs1597748782
NM_001042492.3(NF1):c.4673_4674dup (p.Trp1559fs)
NM_001042492.3(NF1):c.4700C>A (p.Ser1567Ter)
NM_001042492.3(NF1):c.4747G>T (p.Glu1583Ter)
NM_001042492.3(NF1):c.4769T>A (p.Leu1590Ter)
NM_001042492.3(NF1):c.4778del (p.Phe1593fs)
NM_001042492.3(NF1):c.479+1G>C
NM_001042492.3(NF1):c.4796_4797insG (p.Lys1600fs)
NM_001042492.3(NF1):c.480-1G>A
NM_001042492.3(NF1):c.4835+2T>A
NM_001042492.3(NF1):c.4860dup (p.Asp1621Ter)
NM_001042492.3(NF1):c.4865del (p.Leu1622fs)
NM_001042492.3(NF1):c.4883T>G (p.Leu1628Ter)
NM_001042492.3(NF1):c.4888del (p.Thr1630fs)
NM_001042492.3(NF1):c.495_498TGTT[1] (p.Cys167fs) rs786201874
NM_001042492.3(NF1):c.4963A>T (p.Lys1655Ter)
NM_001042492.3(NF1):c.4974del (p.Leu1659fs)
NM_001042492.3(NF1):c.4980_4981insTT (p.Lys1661fs)
NM_001042492.3(NF1):c.5013del (p.Ala1670_Tyr1671insTer)
NM_001042492.3(NF1):c.5034T>G (p.Tyr1678Ter)
NM_001042492.3(NF1):c.5049_5059del (p.Asn1683fs)
NM_001042492.3(NF1):c.5075del (p.Tyr1692fs)
NM_001042492.3(NF1):c.5092_5095del (p.Thr1698fs)
NM_001042492.3(NF1):c.5158G>T (p.Glu1720Ter)
NM_001042492.3(NF1):c.5172_5173del (p.Lys1725fs)
NM_001042492.3(NF1):c.5198T>A (p.Leu1733Ter)
NM_001042492.3(NF1):c.5199_5230delinsTGCT (p.Leu1733fs)
NM_001042492.3(NF1):c.5305C>T (p.Arg1769Ter) rs876657714
NM_001042492.3(NF1):c.5314_5339del (p.Lys1771_Val1772insTer)
NM_001042492.3(NF1):c.5327C>G (p.Ser1776Ter)
NM_001042492.3(NF1):c.5392C>T (p.Gln1798Ter) rs1597832043
NM_001042492.3(NF1):c.540dup (p.Gln181fs)
NM_001042492.3(NF1):c.5443C>T (p.Gln1815Ter)
NM_001042492.3(NF1):c.5446G>T (p.Glu1816Ter)
NM_001042492.3(NF1):c.5493G>A (p.Trp1831Ter)
NM_001042492.3(NF1):c.5494G>T (p.Glu1832Ter)
NM_001042492.3(NF1):c.5494del (p.Glu1832fs) rs1597832223
NM_001042492.3(NF1):c.5503C>T (p.Gln1835Ter)
NM_001042492.3(NF1):c.5516del (p.Ile1839fs) rs1597832304
NM_001042492.3(NF1):c.5521dup (p.Gln1841fs)
NM_001042492.3(NF1):c.5533dup (p.Ile1845fs) rs1597832360
NM_001042492.3(NF1):c.5609+2T>G
NM_001042492.3(NF1):c.5629_5630del (p.Leu1877fs)
NM_001042492.3(NF1):c.5629dup (p.Leu1877fs)
NM_001042492.3(NF1):c.5639T>G (p.Leu1880Ter)
NM_001042492.3(NF1):c.5639dup (p.Leu1880fs)
NM_001042492.3(NF1):c.5662del (p.Ile1888fs)
NM_001042492.3(NF1):c.5672_5673insAA (p.Leu1892fs)
NM_001042492.3(NF1):c.5687C>A (p.Ser1896Ter)
NM_001042492.3(NF1):c.5709del (p.Asn1903fs)
NM_001042492.3(NF1):c.5767dup (p.Thr1923fs)
NM_001042492.3(NF1):c.5785G>T (p.Glu1929Ter)
NM_001042492.3(NF1):c.5787_5788GT[1] (p.Cys1930fs)
NM_001042492.3(NF1):c.5802del (p.Phe1934fs) rs1597834952
NM_001042492.3(NF1):c.5861C>G (p.Ser1954Ter)
NM_001042492.3(NF1):c.5886dup (p.Asn1963Ter)
NM_001042492.3(NF1):c.5958dup (p.Gln1987fs)
NM_001042492.3(NF1):c.6081_6083delinsGG (p.Ala2028fs)
NM_001042492.3(NF1):c.6096del (p.Asp2033fs)
NM_001042492.3(NF1):c.61-1G>A
NM_001042492.3(NF1):c.6105dup (p.Val2036fs)
NM_001042492.3(NF1):c.6139del (p.Ser2047fs)
NM_001042492.3(NF1):c.6147+1G>T
NM_001042492.3(NF1):c.6147_6147+4del
NM_001042492.3(NF1):c.6148-4_6148-2del
NM_001042492.3(NF1):c.6165C>A (p.Cys2055Ter)
NM_001042492.3(NF1):c.6186_6187insG (p.Leu2063fs)
NM_001042492.3(NF1):c.6307dup (p.Leu2103fs)
NM_001042492.3(NF1):c.630dup (p.Ala211fs)
NM_001042492.3(NF1):c.6322dup (p.Thr2108fs)
NM_001042492.3(NF1):c.6356_6360del (p.Arg2119fs)
NM_001042492.3(NF1):c.6361del (p.Ser2121fs)
NM_001042492.3(NF1):c.6407_6408del (p.Cys2136fs)
NM_001042492.3(NF1):c.6410C>A (p.Ser2137Ter)
NM_001042492.3(NF1):c.6412C>T (p.Gln2138Ter)
NM_001042492.3(NF1):c.6425del (p.Ser2142fs)
NM_001042492.3(NF1):c.6428-1G>A
NM_001042492.3(NF1):c.6428-1G>T
NM_001042492.3(NF1):c.6486C>A (p.Tyr2162Ter)
NM_001042492.3(NF1):c.6486C>G (p.Tyr2162Ter)
NM_001042492.3(NF1):c.6488T>A (p.Leu2163Ter)
NM_001042492.3(NF1):c.6503del (p.Ser2168fs) rs1597843782
NM_001042492.3(NF1):c.6515C>G (p.Ser2172Ter)
NM_001042492.3(NF1):c.6524_6525insAA (p.Ile2176fs)
NM_001042492.3(NF1):c.6538del (p.Ser2180fs) rs1597843836
NM_001042492.3(NF1):c.653del (p.Lys218fs) rs1131691094
NM_001042492.3(NF1):c.6540del (p.Ser2181fs) rs1597843853
NM_001042492.3(NF1):c.655-2A>G
NM_001042492.3(NF1):c.6576T>A (p.Tyr2192Ter)
NM_001042492.3(NF1):c.6580del (p.Arg2194fs)
NM_001042492.3(NF1):c.6590_6591del (p.Phe2197fs)
NM_001042492.3(NF1):c.6609_6610del (p.Glu2203fs)
NM_001042492.3(NF1):c.6642+2T>C
NM_001042492.3(NF1):c.6658del (p.Ile2220fs)
NM_001042492.3(NF1):c.6704+1G>C
NM_001042492.3(NF1):c.6704+1G>T rs1060500376
NM_001042492.3(NF1):c.6704+1del rs1597844692
NM_001042492.3(NF1):c.6705-1G>T
NM_001042492.3(NF1):c.6719_6723del (p.Tyr2240fs)
NM_001042492.3(NF1):c.6802del (p.Ile2268fs)
NM_001042492.3(NF1):c.6819+2T>G
NM_001042492.3(NF1):c.6823_6827delinsTGG (p.Leu2275fs)
NM_001042492.3(NF1):c.6832del (p.Cys2278fs)
NM_001042492.3(NF1):c.6840del (p.Gly2281fs)
NM_001042492.3(NF1):c.6841G>T (p.Gly2281Ter)
NM_001042492.3(NF1):c.6845del (p.Pro2282fs)
NM_001042492.3(NF1):c.6854dup (p.Tyr2285Ter) rs876657715
NM_001042492.3(NF1):c.688G>T (p.Glu230Ter)
NM_001042492.3(NF1):c.6892dup (p.Leu2298fs)
NM_001042492.3(NF1):c.6902T>G (p.Leu2301Ter)
NM_001042492.3(NF1):c.6921+1G>C
NM_001042492.3(NF1):c.6925dup (p.Ser2309fs)
NM_001042492.3(NF1):c.6939del (p.Ala2314fs)
NM_001042492.3(NF1):c.6950G>A (p.Trp2317Ter)
NM_001042492.3(NF1):c.6979dup (p.Glu2327fs)
NM_001042492.3(NF1):c.7018C>T (p.Gln2340Ter)
NM_001042492.3(NF1):c.702_708del (p.Tyr235fs)
NM_001042492.3(NF1):c.7039dup (p.Ser2347fs)
NM_001042492.3(NF1):c.7059_7062dup (p.Ser2355fs)
NM_001042492.3(NF1):c.705C>A (p.Tyr235Ter)
NM_001042492.3(NF1):c.7062+1_7062+5del rs1567619134
NM_001042492.3(NF1):c.7113C>A (p.Cys2371Ter)
NM_001042492.3(NF1):c.7114A>T (p.Lys2372Ter)
NM_001042492.3(NF1):c.7114_7133del (p.Lys2372fs)
NM_001042492.3(NF1):c.7120dup (p.Met2374fs)
NM_001042492.3(NF1):c.7131del (p.Phe2377fs) rs1597851351
NM_001042492.3(NF1):c.7131dup (p.Val2378fs)
NM_001042492.3(NF1):c.7142dup (p.Asn2381fs)
NM_001042492.3(NF1):c.7151_7152insA (p.Ser2384_Asn2385insTer)
NM_001042492.3(NF1):c.7157_7158dup (p.Asn2387fs)
NM_001042492.3(NF1):c.7158del (p.Phe2386fs) rs1597851420
NM_001042492.3(NF1):c.7174G>T (p.Gly2392Ter)
NM_001042492.3(NF1):c.7184dup (p.Leu2395fs)
NM_001042492.3(NF1):c.7189+1G>C
NM_001042492.3(NF1):c.7189+1G>T
NM_001042492.3(NF1):c.7190-1G>A
NM_001042492.3(NF1):c.7194C>G (p.Tyr2398Ter)
NM_001042492.3(NF1):c.7209del (p.Ala2404fs)
NM_001042492.3(NF1):c.7212dup (p.Ile2405fs)
NM_001042492.3(NF1):c.7231A>T (p.Arg2411Ter)
NM_001042492.3(NF1):c.7247_7250dup (p.Leu2419fs)
NM_001042492.3(NF1):c.7262_7266del (p.Asn2421fs)
NM_001042492.3(NF1):c.7262del (p.Asn2421fs)
NM_001042492.3(NF1):c.7268del (p.His2423fs)
NM_001042492.3(NF1):c.7271_7272del (p.Arg2424fs)
NM_001042492.3(NF1):c.7278del (p.Cys2426fs)
NM_001042492.3(NF1):c.7281del (p.Asp2427fs)
NM_001042492.3(NF1):c.7290del (p.Glu2430_Val2431insTer)
NM_001042492.3(NF1):c.731-2A>C rs1555608924
NM_001042492.3(NF1):c.731-2A>G rs1555608924
NM_001042492.3(NF1):c.7314_7317del (p.Ala2437_Tyr2438insTer)
NM_001042492.3(NF1):c.7325del (p.Leu2442fs)
NM_001042492.3(NF1):c.7325dup (p.Leu2442fs) rs1597859558
NM_001042492.3(NF1):c.7393del (p.Asp2465fs) rs1597859719
NM_001042492.3(NF1):c.7400C>A (p.Ser2467Ter)
NM_001042492.3(NF1):c.7421del (p.Asp2474fs)
NM_001042492.3(NF1):c.7453dup (p.Tyr2485fs)
NM_001042492.3(NF1):c.7458_7462delinsTCT (p.Arg2486fs)
NM_001042492.3(NF1):c.7465A>T (p.Lys2489Ter)
NM_001042492.3(NF1):c.7481G>A (p.Trp2494Ter)
NM_001042492.3(NF1):c.7509C>G (p.Tyr2503Ter)
NM_001042492.3(NF1):c.7531_7532del (p.Val2511fs)
NM_001042492.3(NF1):c.7534_7537dup (p.Gln2513fs)
NM_001042492.3(NF1):c.7573_7574insT (p.Asp2525fs)
NM_001042492.3(NF1):c.7582C>T (p.Gln2528Ter)
NM_001042492.3(NF1):c.7603A>T (p.Lys2535Ter)
NM_001042492.3(NF1):c.7608del (p.Lys2536fs)
NM_001042492.3(NF1):c.7612del (p.Gly2539fs) rs1597862293
NM_001042492.3(NF1):c.7628del (p.Ser2543fs)
NM_001042492.3(NF1):c.7646C>A (p.Ser2549Ter)
NM_001042492.3(NF1):c.7725_7726del (p.Asp2576fs)
NM_001042492.3(NF1):c.7753dup (p.Ser2585fs)
NM_001042492.3(NF1):c.7788_7789dup (p.Ser2597fs)
NM_001042492.3(NF1):c.7802C>A (p.Ser2601Ter)
NM_001042492.3(NF1):c.7839del (p.Lys2614fs)
NM_001042492.3(NF1):c.7869+1G>C
NM_001042492.3(NF1):c.790del (p.Ala264fs) rs1597659893
NM_001042492.3(NF1):c.7945_7946GT[1] (p.Phe2650fs)
NM_001042492.3(NF1):c.7959del (p.Pro2655fs) rs1597866998
NM_001042492.3(NF1):c.7989_7990insTT (p.Lys2664fs)
NM_001042492.3(NF1):c.8002_8003del (p.Leu2668fs)
NM_001042492.3(NF1):c.8030del (p.Leu2677fs)
NM_001042492.3(NF1):c.8074G>T (p.Glu2692Ter)
NM_001042492.3(NF1):c.8074del (p.Glu2692fs)
NM_001042492.3(NF1):c.8094C>A (p.Tyr2698Ter)
NM_001042492.3(NF1):c.8124dup (p.Asn2709Ter)
NM_001042492.3(NF1):c.8161-1G>A
NM_001042492.3(NF1):c.8161-2A>T
NM_001042492.3(NF1):c.8203del (p.Asp2736fs)
NM_001042492.3(NF1):c.820_823dup (p.Ile275fs)
NM_001042492.3(NF1):c.8295_8296del (p.Leu2766fs)
NM_001042492.3(NF1):c.838del (p.Glu279_Ile280insTer)
NM_001042492.3(NF1):c.847_854del (p.Asp283fs)
NM_001042492.3(NF1):c.851_854dup (p.Lys286fs)
NM_001042492.3(NF1):c.878del (p.Asn293fs)
NM_001042492.3(NF1):c.888+1G>T rs1135402799
NM_001042492.3(NF1):c.888+2T>G
NM_001042492.3(NF1):c.903_913del (p.Asp301fs)
NM_001042492.3(NF1):c.944_945insTGCC (p.Gln315fs)
NM_001042492.3(NF1):c.952_953del (p.Glu318fs)
NM_001042492.3(NF1):c.964del (p.Ile322fs) rs1597680909
NM_001042492.3(NF1):c.968C>A (p.Ala323Asp)
NM_001042492.3(NF1):c.997dup (p.Tyr333fs)
NM_001042492.3(NF1):c.998dup (p.Tyr333Ter)
Single allele

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