ClinVar Miner

List of variants in gene NF1 reported as pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1700
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HGVS dbSNP
GRCh38/hg38 17q11.2(chr17:31206265-31261713)x1
GRCh38/hg38 17q11.2(chr17:31223174-31246335)x1
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
NF1, 1-BP DEL, 4071C
NF1, 42-BP DUP
NF1, 5-BP DEL
NF1, 80-KB DEL
NF1, ALU INS
NF1, DEL
NF1, IVS34, G-A, +18
NG_009018.1(NF1):g.[134769_136954del2186;136931_139830del2900]
NM_000267.3(NF1):c.1009G>T (p.Glu337Ter) rs747241884
NM_000267.3(NF1):c.1020dup (p.Val341fs) rs1555610905
NM_000267.3(NF1):c.1039C>T (p.Gln347Ter) rs1555610910
NM_000267.3(NF1):c.1041_1045del (p.Gln347fs) rs1135402800
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.1062G>C (p.Lys354Asn) rs1131691118
NM_000267.3(NF1):c.1063-13G>A rs1131691066
NM_000267.3(NF1):c.1063-2A>G rs1060500358
NM_000267.3(NF1):c.1070T>C (p.Leu357Pro) rs137854563
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.1152del (p.Arg385fs) rs1135402803
NM_000267.3(NF1):c.1174C>T (p.Gln392Ter) rs1597682137
NM_000267.3(NF1):c.1178del (p.His393fs) rs1555611037
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.121G>T (p.Glu41Ter) rs1567814497
NM_000267.3(NF1):c.1224T>A (p.Tyr408Ter) rs1555611089
NM_000267.3(NF1):c.1237T>C (p.Ser413Pro) rs1555611093
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.1243dup (p.His415fs) rs1085307728
NM_000267.3(NF1):c.1246C>T (p.Arg416Ter) rs764079291
NM_000267.3(NF1):c.1255del (p.Thr419fs) rs1555611105
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 rs267606603
NM_000267.3(NF1):c.1260+220_7553-1095del
NM_000267.3(NF1):c.1260+5G>A rs1060500253
NM_000267.3(NF1):c.1278G>A (p.Trp426Ter) rs1131691085
NM_000267.3(NF1):c.1280_1292del (p.Pro427fs) rs1135402804
NM_000267.3(NF1):c.1299T>A (p.Tyr433Ter) rs876660099
NM_000267.3(NF1):c.1299T>G (p.Tyr433Ter) rs876660099
NM_000267.3(NF1):c.129_130ins568 (p.?)
NM_000267.3(NF1):c.1302T>A (p.Cys434Ter) rs1555611570
NM_000267.3(NF1):c.1318C>T (p.Arg440Ter) rs778405030
NM_000267.3(NF1):c.1322_1323AT[1] (p.Met442fs) rs1135402805
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.1374dup (p.Ala459fs) rs1135402806
NM_000267.3(NF1):c.1381C>T (p.Arg461Ter) rs878853865
NM_000267.3(NF1):c.1392+1del rs1060500347
NM_000267.3(NF1):c.1393-1905_2251+85dup
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.1393-3329_3975-6377del
NM_000267.3(NF1):c.1393_1394delAG rs1597698310
NM_000267.3(NF1):c.1400_1415del (p.Thr467fs) rs1555612270
NM_000267.3(NF1):c.1400del (p.Thr467fs) rs1135402808
NM_000267.3(NF1):c.1423dup (p.Leu475fs) rs1555612274
NM_000267.3(NF1):c.1453G>T (p.Glu485Ter) rs1131691610
NM_000267.3(NF1):c.1462del (p.Ser488fs) rs1135402810
NM_000267.3(NF1):c.1466A>G (p.Tyr489Cys) rs137854557
NM_000267.3(NF1):c.1467T>A (p.Tyr489Ter) rs1567841799
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.1496T>G (p.Leu499Arg) rs1555612288
NM_000267.3(NF1):c.1514del (p.Lys505fs) rs1555612289
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+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+443_3709-761dup
NM_000267.3(NF1):c.1527+5G>A rs1060500352
NM_000267.3(NF1):c.1527+5G>T rs1060500352
NM_000267.3(NF1):c.1528-960_1761del
NM_000267.3(NF1):c.1540C>T (p.Gln514Ter) rs1316926587
NM_000267.3(NF1):c.1541_1542del (p.Gln514fs) rs267606600
NM_000267.3(NF1):c.1541del (p.Gln514fs) rs1555612815
NM_000267.3(NF1):c.1549G>T (p.Glu517Ter) rs587778548
NM_000267.3(NF1):c.154del (p.Ser52fs) rs1131691109
NM_000267.3(NF1):c.1551_1564del (p.Glu517fs) rs1131691068
NM_000267.3(NF1):c.1561del (p.Ser521fs) rs1135402814
NM_000267.3(NF1):c.1570G>T (p.Glu524Ter) rs1135402815
NM_000267.3(NF1):c.1572del (p.Glu524fs) rs1085307461
NM_000267.3(NF1):c.1584del (p.Leu529fs) rs876658693
NM_000267.3(NF1):c.1591C>T (p.Gln531Ter) rs1057518134
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.1607C>A (p.Ser536Ter) rs1555612859
NM_000267.3(NF1):c.1613del (p.Met538fs) rs1135402817
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.1641+156_3975-2222del
NM_000267.3(NF1):c.1642-1G>A rs1555613185
NM_000267.3(NF1):c.1642-1G>T rs1555613185
NM_000267.3(NF1):c.1642-2A>T rs1597706620
NM_000267.3(NF1):c.1642-3C>G rs1597706610
NM_000267.3(NF1):c.1642-8A>G rs267606602
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.1660C>T (p.Gln554Ter) rs953440640
NM_000267.3(NF1):c.1667_1670del (p.Asp556fs) rs1135402819
NM_000267.3(NF1):c.1672del (p.Ile558fs) rs1567845057
NM_000267.3(NF1):c.1680del (p.Leu560fs) rs1567845069
NM_000267.3(NF1):c.1683G>A (p.Trp561Ter) rs1135402820
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>C rs1131691096
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.1754T>G (p.Leu585Ter) rs775670722
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.1811T>A (p.Leu604Ter) rs1555613427
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.1845+537_4661+331del
NM_000267.3(NF1):c.1845G>T (p.Lys615Asn) rs1131691080
NM_000267.3(NF1):c.1846-496_2410-645delinsTAGC
NM_000267.3(NF1):c.1846-613_4773-1009delinsTTAGGTTTAT
NM_000267.3(NF1):c.1857_1863del (p.Arg619fs) rs1567846634
NM_000267.3(NF1):c.1863del (p.Cys622fs) rs1131691777
NM_000267.3(NF1):c.1866T>A (p.Cys622Ter) rs753245823
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.1885G>A (p.Gly629Arg) rs199474738
NM_000267.3(NF1):c.1912G>T (p.Gly638Ter) rs1555613567
NM_000267.3(NF1):c.1918dup (p.Thr640fs) rs1135402825
NM_000267.3(NF1):c.1919C>T (p.Thr640Ile) rs1555613573
NM_000267.3(NF1):c.191del (p.Asn64fs) rs1555604941
NM_000267.3(NF1):c.1949T>A (p.Leu650Ter) rs1135402826
NM_000267.3(NF1):c.1961del (p.Pro654fs) rs1131691108
NM_000267.3(NF1):c.1984A>T (p.Lys662Ter) rs1597710793
NM_000267.3(NF1):c.1988_2410-218delinsTGTC
NM_000267.3(NF1):c.2002-1G>A rs1555613743
NM_000267.3(NF1):c.200del (p.Asn67fs) rs1555604942
NM_000267.3(NF1):c.2033dup (p.Ile679fs) rs587781807
NM_000267.3(NF1):c.2034del (p.Ile679fs) rs1567847384
NM_000267.3(NF1):c.2034delinsCA (p.Ile679fs) rs1064796331
NM_000267.3(NF1):c.204+155_2990+53del
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.2048_5041del
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.2077_2078del (p.Met693fs) rs1555613795
NM_000267.3(NF1):c.2084T>C (p.Leu695Pro) rs199474761
NM_000267.3(NF1):c.2088G>A (p.Trp696Ter) rs1131691099
NM_000267.3(NF1):c.2125T>C (p.Cys709Arg) rs1131691095
NM_000267.3(NF1):c.2135_2136dup (p.Leu713fs) rs1555613810
NM_000267.3(NF1):c.2136_2142del (p.His712fs) rs1555613811
NM_000267.3(NF1):c.2142T>A (p.Cys714Ter) rs141382637
NM_000267.3(NF1):c.2149del (p.Ala717fs) rs1567847540
NM_000267.3(NF1):c.2163T>A (p.Cys721Ter) rs1555613816
NM_000267.3(NF1):c.2167del (p.Val723fs) rs1567847571
NM_000267.3(NF1):c.2178del (p.Ser727fs) rs786202954
NM_000267.3(NF1):c.2218G>T (p.Glu740Ter) rs1135402827
NM_000267.3(NF1):c.221_222dup (p.Ala75fs) rs1597629724
NM_000267.3(NF1):c.2237del (p.Asn746fs) rs1555613838
NM_000267.3(NF1):c.2251+1G>A rs1555613843
NM_000267.3(NF1):c.2252-1G>A rs587781577
NM_000267.3(NF1):c.2252-2A>C rs1131691105
NM_000267.3(NF1):c.2252-2A>G rs1131691105
NM_000267.3(NF1):c.2252-3T>G rs1057518842
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.2326-2A>G rs1555613975
NM_000267.3(NF1):c.2326-3T>G rs876658946
NM_000267.3(NF1):c.2329T>C (p.Trp777Arg) rs876658853
NM_000267.3(NF1):c.2331G>A (p.Trp777Ter) rs1555613983
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.2349del (p.Lys783fs) rs1135402829
NM_000267.3(NF1):c.2352G>A (p.Trp784Ter) rs199474778
NM_000267.3(NF1):c.2356C>T (p.Gln786Ter) rs1555613999
NM_000267.3(NF1):c.236T>G (p.Leu79Ter) rs1597629765
NM_000267.3(NF1):c.2380del (p.Tyr794fs) rs1567848178
NM_000267.3(NF1):c.2388dup (p.Ala797fs) rs1555614011
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+2T>G rs876660826
NM_000267.3(NF1):c.2409+2del rs878853875
NM_000267.3(NF1):c.2410-110_2850+65delinsAAAA rs1555614169
NM_000267.3(NF1):c.2410-16A>G rs1567848704
NM_000267.3(NF1):c.2410-18C>G rs533210843
NM_000267.3(NF1):c.2410-1G>A rs1057518792
NM_000267.3(NF1):c.2410-1G>C rs1057518792
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.2455del (p.His819fs) rs1567848761
NM_000267.3(NF1):c.245C>T (p.Ser82Phe) rs199474729
NM_000267.3(NF1):c.246_247del rs771115661
NM_000267.3(NF1):c.247C>T (p.Gln83Ter) rs746824139
NM_000267.3(NF1):c.2483del (p.Leu828fs) rs1131691069
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.2511G>A (p.Trp837Ter) rs1555614211
NM_000267.3(NF1):c.2530C>T (p.Leu844Phe) rs199474785
NM_000267.3(NF1):c.2531T>C (p.Leu844Pro) rs137854566
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.2545G>T (p.Gly849Ter) rs1064794275
NM_000267.3(NF1):c.2545_2546dup (p.Val850fs) rs1567848878
NM_000267.3(NF1):c.2560C>T (p.Gln854Ter) rs1555614261
NM_000267.3(NF1):c.2589T>G (p.Tyr863Ter) rs587782814
NM_000267.3(NF1):c.2589_2592del (p.Ser864fs) rs876658207
NM_000267.3(NF1):c.2604dup (p.Pro869fs) rs878853877
NM_000267.3(NF1):c.2619dup (p.Lys874Ter) rs1555614284
NM_000267.3(NF1):c.2622_2623insA (p.Gly875fs) rs587781933
NM_000267.3(NF1):c.2622_2629del (p.Lys874fs) rs1567848976
NM_000267.3(NF1):c.2665dup (p.Thr889fs) rs886041348
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.2753del (p.Lys918fs) rs1131691078
NM_000267.3(NF1):c.2786T>C (p.Leu929Pro) 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.2798T>C (p.Leu933Pro) rs1555614342
NM_000267.3(NF1):c.279T>A (p.Cys93Ter) rs1597629882
NM_000267.3(NF1):c.2802del (p.Phe934fs) rs1555614343
NM_000267.3(NF1):c.2827A>T (p.Lys943Ter) rs1567849199
NM_000267.3(NF1):c.282del (p.Ala95fs) rs1555605404
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.2848del (p.Gln950fs) rs1135402833
NM_000267.3(NF1):c.2850+1G>A rs1131691122
NM_000267.3(NF1):c.2850+1G>T rs1131691122
NM_000267.3(NF1):c.2850G>A (p.Gln950=) rs863224446
NM_000267.3(NF1):c.2851-151_2990+121dup rs1555614386
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.2934del (p.Ser979fs) rs1555614448
NM_000267.3(NF1):c.2947_2948del (p.Leu983fs) rs1597716378
NM_000267.3(NF1):c.2952del (p.Gln985fs) rs1555614453
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.2990+1G>T rs1135402836
NM_000267.3(NF1):c.2990G>A (p.Arg997Lys) rs1555614462
NM_000267.3(NF1):c.2991-1G>A rs1060500273
NM_000267.3(NF1):c.2991-1G>C rs1060500273
NM_000267.3(NF1):c.3027del (p.Gln1010fs) rs1135402837
NM_000267.3(NF1):c.3037del (p.Thr1013fs) rs1135402838
NM_000267.3(NF1):c.3040A>T (p.Lys1014Ter) rs1135402839
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.3048T>A (p.Cys1016Ter) rs1135402840
NM_000267.3(NF1):c.3053T>A (p.Leu1018Ter) rs1597716924
NM_000267.3(NF1):c.3060del (p.Glu1020_Val1021insTer) rs1555614521
NM_000267.3(NF1):c.3064del (p.Val1021_Met1022insTer) rs878853881
NM_000267.3(NF1):c.3074_3096dup (p.Gln1033fs) rs1555614527
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.3104T>G (p.Met1035Arg) rs137854553
NM_000267.3(NF1):c.3106A>T (p.Lys1036Ter) rs1567849891
NM_000267.3(NF1):c.3111del (p.Phe1037fs) rs1131691127
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.311T>G (p.Leu104Ter) rs1057521097
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.3189T>A (p.Cys1063Ter) rs1135402841
NM_000267.3(NF1):c.3197+1G>A rs1555614653
NM_000267.3(NF1):c.3197G>C (p.Arg1066Thr) rs1555614652
NM_000267.3(NF1):c.3198-2A>G rs1131691089
NM_000267.3(NF1):c.319del (p.Thr107fs) rs1131691116
NM_000267.3(NF1):c.3208C>T (p.Gln1070Ter) rs786202023
NM_000267.3(NF1):c.3214dup (p.Ser1072fs) rs1555614825
NM_000267.3(NF1):c.3250C>A (p.Pro1084Thr) rs1555614848
NM_000267.3(NF1):c.3250_3251dup (p.Gln1086fs) rs1555614845
NM_000267.3(NF1):c.3261dup (p.Glu1088Ter) rs1555614851
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.332_335del (p.Lys111fs) rs1135402787
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.3429_3432dup (p.Thr1145fs) rs1135402842
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.3446T>C (p.Met1149Thr) rs1131691121
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.3496+57_4772+2639dup
NM_000267.3(NF1):c.3497delG rs1567851231
NM_000267.3(NF1):c.3500T>G (p.Leu1167Ter) rs786204253
NM_000267.3(NF1):c.3514del (p.Asp1172fs) rs876660580
NM_000267.3(NF1):c.3525_3526del (p.Arg1176fs) rs1131691092
NM_000267.3(NF1):c.3537del (p.Phe1179fs) rs1555615026
NM_000267.3(NF1):c.3563A>C (p.Gln1188Pro) rs758419553
NM_000267.3(NF1):c.3565C>T (p.Gln1189Ter) rs878853884
NM_000267.3(NF1):c.3567del (p.Gly1190fs) rs1060500271
NM_000267.3(NF1):c.3591dup (p.Glu1198fs) rs1135402844
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.3677dup (p.Leu1227fs) rs1567851501
NM_000267.3(NF1):c.3686del (p.Asn1229fs) rs1555615103
NM_000267.3(NF1):c.3692_3708del (p.Val1231fs) rs1135402848
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.3708+598_4772+16224del
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 rs1597722374
NM_000267.3(NF1):c.3709-941_3974+2711del
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.3728T>C (p.Leu1243Pro) rs137854564
NM_000267.3(NF1):c.372_373insTT (p.Arg125fs) rs1555606080
NM_000267.3(NF1):c.3732_3742del (p.Thr1245fs) rs1597722429
NM_000267.3(NF1):c.3732dup (p.Thr1245fs) rs1135402849
NM_000267.3(NF1):c.3737dup (p.Phe1247fs) rs1555615445
NM_000267.3(NF1):c.3739_3742del (p.Phe1247fs) rs1064794276
NM_000267.3(NF1):c.3757_3797del (p.Leu1253fs) rs1555615447
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.3778_3782del (p.Met1260fs) rs1555615462
NM_000267.3(NF1):c.3784del (p.Ser1262fs) rs1567852567
NM_000267.3(NF1):c.3790G>A (p.Glu1264Lys) rs863224660
NM_000267.3(NF1):c.3790G>T (p.Glu1264Ter) rs863224660
NM_000267.3(NF1):c.3821dup (p.Phe1275fs) rs786203614
NM_000267.3(NF1):c.3822_3823del 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>C (p.Arg1276Pro) rs137854556
NM_000267.3(NF1):c.3834C>G (p.Asn1278Lys) rs1135402850
NM_000267.3(NF1):c.3870+1G>A rs1131691075
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.3902_3903insTTATTACGAATTG (p.Asp1302fs) rs786203500
NM_000267.3(NF1):c.3911T>A (p.Leu1304Ter) rs761512189
NM_000267.3(NF1):c.3911del (p.Leu1304fs) rs1555615549
NM_000267.3(NF1):c.3916C>T (p.Arg1306Ter) rs376576925
NM_000267.3(NF1):c.3941G>A (p.Trp1314Ter) rs876658235
NM_000267.3(NF1):c.3948dup (p.Val1317fs) rs1555615559
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.3975-1922_4111-2448delinsTTTACTTAGGT
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.4000del (p.Glu1334fs) rs1135402851
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.4064C>G (p.Ser1355Ter) rs1131691087
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.4078C>T (p.Gln1360Ter) rs1555617368
NM_000267.3(NF1):c.4084C>T (p.Arg1362Ter) rs137854560
NM_000267.3(NF1):c.4095_4096insTG (p.His1366fs) rs267606608
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.4132C>T (p.Gln1378Ter) rs1131691072
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.4173A>T (p.Arg1391Ser) rs137854554
NM_000267.3(NF1):c.4191del (p.Ile1397fs) rs1135402855
NM_000267.3(NF1):c.4197_4198del (p.Pro1400fs) rs1555618536
NM_000267.3(NF1):c.4199del (p.Pro1400fs) rs1567861977
NM_000267.3(NF1):c.4200del (p.Tyr1401fs) rs1555618542
NM_000267.3(NF1):c.4203dup (p.Glu1402Ter) rs876659964
NM_000267.3(NF1):c.421del (p.Val141fs) rs1131691119
NM_000267.3(NF1):c.422_437del (p.Val141fs) rs1555606098
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.4261del (p.Met1421fs) rs1135402856
NM_000267.3(NF1):c.4267A>C (p.Lys1423Gln) rs137854550
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+1del rs1567862095
NM_000267.3(NF1):c.4269+2T>C rs786204207
NM_000267.3(NF1):c.4269G>C (p.Lys1423Asn) rs199474750
NM_000267.3(NF1):c.4270-2A>G rs1555618634
NM_000267.3(NF1):c.4270-2del rs886041630
NM_000267.3(NF1):c.4276C>G (p.Gln1426Glu) rs1135402857
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.4289A>C (p.Asn1430Thr) rs199474754
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.4316_4317AT[3] (p.Met1440fs) rs1135402859
NM_000267.3(NF1):c.4317dup (p.Met1440fs) rs886041435
NM_000267.3(NF1):c.4367+1G>A rs773151680
NM_000267.3(NF1):c.4367+1G>C rs773151680
NM_000267.3(NF1):c.4367+2T>G rs1555618693
NM_000267.3(NF1):c.4368-391_4515-122delins105
NM_000267.3(NF1):c.4368-?_5943+?del
NM_000267.3(NF1):c.4373dup (p.Leu1459fs) rs1555618803
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.4515-19A>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.4523A>G (p.Lys1508Arg) rs1555619001
NM_000267.3(NF1):c.4534A>T (p.Arg1512Ter) rs1064796633
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.4564del (p.Ala1523fs) rs1131691088
NM_000267.3(NF1):c.4572C>A (p.Tyr1524Ter) rs754023358
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.4614G>A (p.Trp1538Ter) rs137854555
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+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.4662-1076_4772+1300delins260
NM_000267.3(NF1):c.4662-1G>A rs1555619391
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.4702del (p.Thr1568fs) rs1131691098
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.4720del (p.Gln1574fs) rs1555619404
NM_000267.3(NF1):c.4735A>T (p.Lys1579Ter) rs1567865056
NM_000267.3(NF1):c.4755_4759del (p.Phe1585fs) rs1555619413
NM_000267.3(NF1):c.4756del (p.Tyr1586fs) rs876658492
NM_000267.3(NF1):c.4756dup (p.Tyr1586fs) rs876658492
NM_000267.3(NF1):c.4761T>A (p.Tyr1587Ter) rs1567865089
NM_000267.3(NF1):c.4769_4771delinsAC (p.Arg1590fs) rs1597753353
NM_000267.3(NF1):c.4772+1G>A rs1085307819
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.4773-2A>C rs1555533265
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+1G>T rs1555606137
NM_000267.3(NF1):c.479+5G>A rs1567818033
NM_000267.3(NF1):c.480-134_8315-6206del
NM_000267.3(NF1):c.480-2989_586+3445del
NM_000267.3(NF1):c.480-2A>G rs1567820688
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.4812C>G (p.Tyr1604Ter) rs1555533285
NM_000267.3(NF1):c.4829T>G (p.Leu1610Ter) rs1555533292
NM_000267.3(NF1):c.4829del (p.Thr1609_Leu1610insTer) rs1555533290
NM_000267.3(NF1):c.4841_4842insAAT (p.Tyr1614Ter) rs587781780
NM_000267.3(NF1):c.4842T>G (p.Tyr1614Ter) rs948982039
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.4935del (p.Pro1646fs) rs1135402867
NM_000267.3(NF1):c.4935dup (p.Pro1646fs) rs1135402867
NM_000267.3(NF1):c.4941_7127-2901del
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.4958_4959TC[1] (p.Ser1654fs) rs876660286
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.4999G>T (p.Glu1667Ter) rs1135402869
NM_000267.3(NF1):c.5020_5021dup (p.Leu1675fs) rs1555533366
NM_000267.3(NF1):c.5024del (p.Leu1675fs) rs1555533368
NM_000267.3(NF1):c.503C>G (p.Ser168Ter) rs1131691994
NM_000267.3(NF1):c.5054_5055insA (p.Val1686fs) rs1567611534
NM_000267.3(NF1):c.5094del (p.Ile1698fs) rs1555533382
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.5206-14C>G rs753463683
NM_000267.3(NF1):c.5206-1G>A rs876660141
NM_000267.3(NF1):c.5206-2A>G rs1555533548
NM_000267.3(NF1):c.5206-41_5228del rs1555533543
NM_000267.3(NF1):c.5206-8C>G rs1597831805
NM_000267.3(NF1):c.5206delG rs1555533549
NM_000267.3(NF1):c.5223_5226del (p.Val1741_Gln1742insTer) rs1597831854
NM_000267.3(NF1):c.5232_5233del (p.Ala1746fs) rs1555533552
NM_000267.3(NF1):c.5234C>G (p.Ser1745Ter) rs1555533555
NM_000267.3(NF1):c.5254dup (p.Leu1752fs) rs1555533561
NM_000267.3(NF1):c.5257_5261dup (p.Ser1755fs) rs1555533562
NM_000267.3(NF1):c.5264del (p.Gln1754_Ser1755insTer) rs1131691128
NM_000267.3(NF1):c.5270_5271del (p.Phe1757fs) rs1555533566
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.5368_5386del (p.Thr1790fs) rs1567612488
NM_000267.3(NF1):c.538_541del (p.Leu180fs) rs1135402789
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>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>C (p.Arg1809Pro) rs771529172
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.5448dup (p.Ser1817fs) rs267606596
NM_000267.3(NF1):c.5451_5454del (p.Ile1818fs) rs1555533621
NM_000267.3(NF1):c.5458C>T (p.Gln1820Ter) rs786203570
NM_000267.3(NF1):c.5465_5466insT (p.Lys1823fs) rs267606597
NM_000267.3(NF1):c.5466dup (p.Lys1823fs) rs1555533628
NM_000267.3(NF1):c.5472del (p.Arg1825fs) rs1567612647
NM_000267.3(NF1):c.5478_5484del (p.Lys1827fs) rs1064796631
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.5498T>G (p.Leu1833Arg) rs878853903
NM_000267.3(NF1):c.5498del (p.Leu1833fs) rs1555533644
NM_000267.3(NF1):c.5508_5509delinsT (p.Ala1837fs) rs1135402875
NM_000267.3(NF1):c.551del (p.Asn184fs) rs1555607102
NM_000267.3(NF1):c.5523del (p.Gly1842fs) rs1555533648
NM_000267.3(NF1):c.5531_5532del (p.Ser1843_Ser1844insTer) rs1555533650
NM_000267.3(NF1):c.5543T>G (p.Leu1848Ter) rs1597832482
NM_000267.3(NF1):c.5546+1G>A rs1131691117
NM_000267.3(NF1):c.5546+336_5943+244del
NM_000267.3(NF1):c.5546G>A (p.Arg1849Gln) rs786202112
NM_000267.3(NF1):c.5547-1G>C rs1567613569
NM_000267.3(NF1):c.5556dup (p.Tyr1853fs) rs1555533842
NM_000267.3(NF1):c.5562_5567delinsG (p.Asn1854fs) rs1131691081
NM_000267.3(NF1):c.5574del (p.Ala1858_Leu1859insTer) rs1135402877
NM_000267.3(NF1):c.5582dup (p.Cys1861fs) rs1567613604
NM_000267.3(NF1):c.5587T>C (p.Phe1863Leu) rs1060500378
NM_000267.3(NF1):c.5594T>A (p.Leu1865Ter) rs1555533853
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.5609dup (p.Leu1871fs) rs1135402878
NM_000267.3(NF1):c.560del (p.Cys187fs) rs1555607107
NM_000267.3(NF1):c.5613dup (p.Leu1872fs) rs1475358670
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.5702_5703del (p.Leu1901fs) rs1555533880
NM_000267.3(NF1):c.5708T>A (p.Leu1903Ter) rs1198491194
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.5723del (p.Glu1908fs) rs1555533883
NM_000267.3(NF1):c.5749+189_6999+1035del
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.5749+6_6858+633delins130
NM_000267.3(NF1):c.5749+750_5943+244del
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.5759T>A (p.Leu1920Ter) rs1555534375
NM_000267.3(NF1):c.5767del (p.Leu1923fs) rs1555534378
NM_000267.3(NF1):c.5770del (p.Cys1924fs) rs1555534379
NM_000267.3(NF1):c.5772T>A (p.Cys1924Ter) rs1555534380
NM_000267.3(NF1):c.5776G>T (p.Glu1926Ter) rs587782088
NM_000267.3(NF1):c.5779T>G (p.Tyr1927Asp) rs1057520575
NM_000267.3(NF1):c.5780dup (p.Tyr1927Ter) rs1135402881
NM_000267.3(NF1):c.5791T>C (p.Trp1931Arg) rs199474791
NM_000267.3(NF1):c.5792G>A (p.Trp1931Ter) rs1567615766
NM_000267.3(NF1):c.5793G>A (p.Trp1931Ter) rs1555534393
NM_000267.3(NF1):c.5795T>C (p.Leu1932Pro) rs199474792
NM_000267.3(NF1):c.5817C>A (p.Cys1939Ter) rs1462287670
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.5845A>T (p.Arg1949Ter) rs267606595
NM_000267.3(NF1):c.5845_5846insTA (p.Arg1949fs) rs1060500354
NM_000267.3(NF1):c.586+1209_1845+35del
NM_000267.3(NF1):c.586+1G>A rs1555607126
NM_000267.3(NF1):c.5862del (p.Asp1955fs) rs1060500349
NM_000267.3(NF1):c.587-282_8315-3687del
NM_000267.3(NF1):c.587-2A>T rs1057518360
NM_000267.3(NF1):c.587-3C>G rs375188075
NM_000267.3(NF1):c.5875del (p.Thr1959fs) rs1567615852
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.5938G>A (p.Gly1980Arg) rs199474751
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_5943+1delinsAA rs1064796077
NM_000267.3(NF1):c.5944-1G>C rs1555534596
NM_000267.3(NF1):c.5944-2A>G rs1555534595
NM_000267.3(NF1):c.5944-5A>G rs267606604
NM_000267.3(NF1):c.594del (p.Phe199fs) rs1555608647
NM_000267.3(NF1):c.5999del (p.Gly2000fs) rs1057518475
NM_000267.3(NF1):c.60+24136_587-5022del
NM_000267.3(NF1):c.60+3120_3975-326del
NM_000267.3(NF1):c.6025dup (p.Val2009fs) rs1555534609
NM_000267.3(NF1):c.6027dup (p.Met2010fs) rs1555534611
NM_000267.3(NF1):c.603del (p.Phe201fs) rs1135402792
NM_000267.3(NF1):c.6073dup (p.Val2025fs) rs1555534618
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.61-2A>G rs1131691100
NM_000267.3(NF1):c.61-2A>T rs1131691100
NM_000267.3(NF1):c.6103A>T (p.Lys2035Ter) rs1555534667
NM_000267.3(NF1):c.610dup (p.Leu204fs) rs1135402793
NM_000267.3(NF1):c.6111del (p.Ile2037fs) rs1567616894
NM_000267.3(NF1):c.6134del (p.Thr2045fs) rs1135402883
NM_000267.3(NF1):c.6148C>T (p.Gln2050Ter) rs1135402884
NM_000267.3(NF1):c.6157dup (p.Met2053fs) rs1555534673
NM_000267.3(NF1):c.6162G>A (p.Trp2054Ter) rs1555534677
NM_000267.3(NF1):c.6200T>C (p.Leu2067Pro) rs137854561
NM_000267.3(NF1):c.6212del (p.Asn2071fs) rs1555534697
NM_000267.3(NF1):c.6243_6244insT (p.Leu2082fs) rs876659471
NM_000267.3(NF1):c.6244del (p.Leu2082fs) rs1131691125
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.6263del (p.Phe2088fs) rs1135402885
NM_000267.3(NF1):c.6271del (p.Ala2091fs) rs1555534735
NM_000267.3(NF1):c.6278_6279del (p.Gly2093fs) rs1597843052
NM_000267.3(NF1):c.6295_6296insTTTAA (p.Ala2099delinsValTer) rs1131691133
NM_000267.3(NF1):c.629T>G (p.Leu210Ter) rs876658570
NM_000267.3(NF1):c.6302_6303insGG (p.His2102fs) rs1555534751
NM_000267.3(NF1):c.6310_6313del (p.Leu2104fs) rs1555534755
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.6365-3C>A rs374014162
NM_000267.3(NF1):c.6367G>T (p.Glu2123Ter) rs1567617371
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.6389_6393delinsA (p.Leu2130fs) rs1135402887
NM_000267.3(NF1):c.6399dup (p.Glu2134fs) rs1135402888
NM_000267.3(NF1):c.6424_6425del (p.Leu2142fs) rs1060500338
NM_000267.3(NF1):c.6427C>A (p.Leu2143Met) rs137854551
NM_000267.3(NF1):c.6457_6475del (p.Ala2153fs) rs786203806
NM_000267.3(NF1):c.6462_6474del (p.Ile2155fs) rs1131691071
NM_000267.3(NF1):c.647T>C (p.Leu216Pro) rs199474756
NM_000267.3(NF1):c.6482del (p.Tyr2161fs) rs1135402889
NM_000267.3(NF1):c.6483_6487del (p.Tyr2161_Asp2163delinsTer) rs1135402890
NM_000267.3(NF1):c.6494C>G (p.Ser2165Ter) rs1131691091
NM_000267.3(NF1):c.649G>T (p.Glu217Ter) rs878853909
NM_000267.3(NF1):c.6506_6507del (p.Gly2169fs) rs1131691076
NM_000267.3(NF1):c.6511T>A (p.Tyr2171Asn) rs267606598
NM_000267.3(NF1):c.6514G>T (p.Glu2172Ter) rs1135402891
NM_000267.3(NF1):c.6522_6523del rs1131691084
NM_000267.3(NF1):c.653dup (p.Ala219fs) rs1131691094
NM_000267.3(NF1):c.654+1G>A rs1060500245
NM_000267.3(NF1):c.655-2A>C rs1555608734
NM_000267.3(NF1):c.6579+1G>A rs1060500345
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.6611G>A (p.Trp2204Ter) rs1193716348
NM_000267.3(NF1):c.662G>A (p.Trp221Ter) rs1131691126
NM_000267.3(NF1):c.6636del (p.Gln2213fs) rs1060500268
NM_000267.3(NF1):c.6637C>T (p.Gln2213Ter) rs1567617727
NM_000267.3(NF1):c.663G>A (p.Trp221Ter) rs1555608737
NM_000267.3(NF1):c.663del (p.Phe220_Trp221insTer) rs1555608736
NM_000267.3(NF1):c.6641+1G>A rs1060500376
NM_000267.3(NF1):c.6641+2T>G rs1555534928
NM_000267.3(NF1):c.6641+2del rs1555534929
NM_000267.3(NF1):c.6642-17G>A rs1064795966
NM_000267.3(NF1):c.6642-3C>A rs1131691079
NM_000267.3(NF1):c.6642-3C>G rs1131691079
NM_000267.3(NF1):c.6650_6652del (p.Phe2217_Gln2218delinsTer) rs1555534948
NM_000267.3(NF1):c.6652C>T (p.Gln2218Ter) rs1131691093
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.667T>C (p.Trp223Arg) rs1555608740
NM_000267.3(NF1):c.6688_6691del (p.Val2230fs) rs1567617877
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.6733C>T (p.Gln2245Ter) rs1555534955
NM_000267.3(NF1):c.6756+1G>A rs1555534964
NM_000267.3(NF1):c.6756+2T>A rs1135402894
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.6795_6796del (p.Asn2265fs) rs1555535044
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.6815del (p.Ala2272fs) rs1135402895
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.6849_6853del (p.Leu2283_Leu2284insTer) rs878853025
NM_000267.3(NF1):c.6852_6853dup (p.Asn2285fs) rs1555535052
NM_000267.3(NF1):c.6858+1G>A rs1060500355
NM_000267.3(NF1):c.6858+1G>T rs1060500355
NM_000267.3(NF1):c.6859-1G>C rs1131691115
NM_000267.3(NF1):c.6889dup (p.Val2297fs) rs1057519369
NM_000267.3(NF1):c.6907C>T (p.Gln2303Ter) rs1131691073
NM_000267.3(NF1):c.6930_6945del (p.Ser2311fs) rs1555535177
NM_000267.3(NF1):c.6952G>T (p.Glu2318Ter) rs1060500359
NM_000267.3(NF1):c.6965_6968del (p.His2322fs) rs1131691083
NM_000267.3(NF1):c.6967del (p.Thr2323fs) rs1135402897
NM_000267.3(NF1):c.6971T>G (p.Leu2324Ter) rs1555535195
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.7013_7039del (p.Val2338_Leu2346del) rs1555535403
NM_000267.3(NF1):c.7039del (p.Glu2347fs) rs1131691082
NM_000267.3(NF1):c.7044G>A (p.Trp2348Ter) rs1060500286
NM_000267.3(NF1):c.7047_7048del (p.His2349fs) rs1555535416
NM_000267.3(NF1):c.7054C>T (p.Gln2352Ter) rs1555535417
NM_000267.3(NF1):c.705C>G (p.Tyr235Ter) rs769048538
NM_000267.3(NF1):c.7089_7090insTT (p.Asn2364fs) rs1555535434
NM_000267.3(NF1):c.7089dup (p.Asn2364Ter) 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.7126+3A>C rs267606610
NM_000267.3(NF1):c.7126G>A (p.Gly2376Arg) rs1135402900
NM_000267.3(NF1):c.7127-2A>G rs772348111
NM_000267.3(NF1):c.7128delG rs1597858338
NM_000267.3(NF1):c.7132del (p.Arg2378fs) rs1131691102
NM_000267.3(NF1):c.715C>T (p.Gln239Ter) rs1597658676
NM_000267.3(NF1):c.7171del (p.Ile2391fs) rs876658245
NM_000267.3(NF1):c.7175T>A (p.Leu2392Ter) rs775181940
NM_000267.3(NF1):c.7192_7193del rs1597858459
NM_000267.3(NF1):c.7193_7194del (p.Leu2398fs) rs1555536027
NM_000267.3(NF1):c.7197dup (p.Asn2400Ter) rs1135402901
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.7215T>A (p.Cys2405Ter) rs1567623508
NM_000267.3(NF1):c.7224del (p.Phe2408fs) rs1135402902
NM_000267.3(NF1):c.7225G>T (p.Glu2409Ter) rs1555536035
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.7259del (p.Ala2420fs) rs1131691113
NM_000267.3(NF1):c.7267_7268insAA (p.Thr2423fs) rs1064794278
NM_000267.3(NF1):c.7267dup (p.Thr2423fs) rs1064794278
NM_000267.3(NF1):c.7274_7275del (p.Val2424_Ser2425insTer) rs1135402904
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.730G>A (p.Glu244Lys) rs1567826188
NM_000267.3(NF1):c.731-1G>A rs1555608928
NM_000267.3(NF1):c.731-2A>T rs1555608924
NM_000267.3(NF1):c.731-302_8314+3681del
NM_000267.3(NF1):c.7310del (p.Arg2437fs) rs1060500335
NM_000267.3(NF1):c.7320del (p.Leu2441fs) rs1135402905
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.7359dup (p.Thr2454fs) rs1131691107
NM_000267.3(NF1):c.7365T>A (p.Tyr2455Ter) rs181397225
NM_000267.3(NF1):c.7385_7394del (p.Pro2462fs) rs1597859854
NM_000267.3(NF1):c.7392T>A (p.Tyr2464Ter) rs1597859871
NM_000267.3(NF1):c.7395-1G>C rs1597862012
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.7442del (p.Gly2481fs) rs1555536358
NM_000267.3(NF1):c.7446C>A (p.Tyr2482Ter) rs1555536359
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.7543_7552+1del rs1131691120
NM_000267.3(NF1):c.7544del (p.Lys2515fs) rs1060500327
NM_000267.3(NF1):c.7552+1G>T rs1555536380
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.7697C>G (p.Ser2566Ter) rs1131691090
NM_000267.3(NF1):c.7699C>T (p.Gln2567Ter) rs1555536687
NM_000267.3(NF1):c.7702C>T (p.Gln2568Ter) rs1555536689
NM_000267.3(NF1):c.7709del (p.Pro2570fs) rs1064795136
NM_000267.3(NF1):c.7715del (p.Leu2572fs) rs1567626919
NM_000267.3(NF1):c.7719del (p.Val2575fs) rs1135402908
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.7748del (p.Leu2583fs) rs1555536701
NM_000267.3(NF1):c.7775dup (p.Lys2593fs) rs1131691129
NM_000267.3(NF1):c.7806+1G>A rs1329683225
NM_000267.3(NF1):c.7843C>T (p.Gln2615Ter) rs567988442
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.7884_8315-5528del
NM_000267.3(NF1):c.7892_7893del (p.Lys2631fs) rs1555536765
NM_000267.3(NF1):c.7893dup (p.Val2632fs) rs1555536765
NM_000267.3(NF1):c.789del (p.Ala264fs) rs1135402795
NM_000267.3(NF1):c.7901_7902ins11 (p.?)
NM_000267.3(NF1):c.7901del (p.Pro2634fs) rs1567627268
NM_000267.3(NF1):c.7907+149_8097+723dup
NM_000267.3(NF1):c.7907+1G>A rs1555536773
NM_000267.3(NF1):c.7919T>A (p.Leu2640Ter) rs1567627709
NM_000267.3(NF1):c.7926dup (p.Lys2643Ter) rs1555536882
NM_000267.3(NF1):c.792del (p.Ala265fs) rs1135402796
NM_000267.3(NF1):c.7946C>A (p.Ser2649Ter) rs1131691074
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.8021del (p.Pro2674fs) rs1555536928
NM_000267.3(NF1):c.8032C>T (p.Gln2678Ter) rs786203443
NM_000267.3(NF1):c.8042dup (p.Tyr2681Ter) rs267606601
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.82C>T (p.Gln28Ter) rs771764281
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.888+3798_5750-2053del
NM_000267.3(NF1):c.888+5515_1261-1635del
NM_000267.3(NF1):c.888+8334_1721+34delinsTC
NM_000267.3(NF1):c.889-1633_7395-667del
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.889-453_908del rs1555610774
NM_000267.3(NF1):c.889-8107_1261-278del
NM_000267.3(NF1):c.889-8381_6757-5del
NM_000267.3(NF1):c.889-894_1261-284del
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.945_946delinsAA (p.Leu316Met) rs267606609
NM_000267.3(NF1):c.950_953dup (p.Glu318fs) rs1555610879
NM_000267.3(NF1):c.952del (p.Glu318fs) rs1555610881
NM_000267.3(NF1):c.955del (p.Ser319fs) rs876660931
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.980T>C (p.Leu327Pro) rs201624827
NM_000267.3(NF1):c.983_984del rs1555610893
NM_000267.3(NF1):c.988_995del (p.Ala330fs) rs1567835161
NM_000267.3(NF1):c.989C>T (p.Ala330Val) rs1555610898
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.3975-1046_4110+902deins333
NM_000267.3:c.3975-364_4515-510indel810
NM_000267.3:c.4516del
NM_000267.3:c.5547-961+5943+244del
NM_000267.3:c.7566_8314+3321_delinsCGCCACGGC
NM_001042492.2(NF1):c.1969_1970TC[2] (p.Leu658fs) rs1064796843
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.2351_2352delinsC (p.Trp784fs) rs1567848147
NM_001042492.2(NF1):c.3299_3300CA[1] (p.Gln1101fs) rs1555614866
NM_001042492.2(NF1):c.4372_4374GAA[1] (p.Glu1459del) rs267606607
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_001042492.2(NF1):c.[6708delT;6710C>G]
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.1063-14T>A rs538708444
NM_001042492.3(NF1):c.1063-3T>G rs758206740
NM_001042492.3(NF1):c.1066del (p.Leu356fs) rs1597681864
NM_001042492.3(NF1):c.1091del (p.Phe364fs)
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.1186-1G>A rs876660782
NM_001042492.3(NF1):c.1192del (p.Leu398fs)
NM_001042492.3(NF1):c.1198C>T (p.Gln400Ter) rs1597682751
NM_001042492.3(NF1):c.1224T>G (p.Tyr408Ter)
NM_001042492.3(NF1):c.1260+1G>C
NM_001042492.3(NF1):c.1261-13T>A rs1597688674
NM_001042492.3(NF1):c.1261-19G>A rs1597688663
NM_001042492.3(NF1):c.1261-21T>G rs1597688656
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.1307_1316del (p.Ser436fs) rs1597688786
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.1392+1G>A rs267604791
NM_001042492.3(NF1):c.1392+1G>C rs267604791
NM_001042492.3(NF1):c.1392+2del rs1597689068
NM_001042492.3(NF1):c.1394del (p.Ser465fs)
NM_001042492.3(NF1):c.1399dup (p.Thr467fs) rs778963145
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.147del (p.Lys48_Tyr49insTer) rs1597626031
NM_001042492.3(NF1):c.1522del (p.Leu508fs)
NM_001042492.3(NF1):c.1532del (p.Pro511fs) rs1597703352
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.1608dup (p.His537fs) rs1597703530
NM_001042492.3(NF1):c.1639dup (p.Glu547fs)
NM_001042492.3(NF1):c.1642-10A>G rs1597706578
NM_001042492.3(NF1):c.1642-7A>G rs1597706592
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.1711del (p.Trp571fs) rs1597706737
NM_001042492.3(NF1):c.1712G>A (p.Trp571Ter)
NM_001042492.3(NF1):c.1721+1G>A rs1131691096
NM_001042492.3(NF1):c.1722-11T>G
NM_001042492.3(NF1):c.1722-20_1722-17del rs1597708558
NM_001042492.3(NF1):c.1722-26T>C rs1597708542
NM_001042492.3(NF1):c.1722-3C>A rs770211384
NM_001042492.3(NF1):c.1722-8_1722-3delinsAAAA rs1597708581
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.1785_1786del (p.Glu595fs) rs1567845900
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.1854del (p.Asp618fs) rs1597710342
NM_001042492.3(NF1):c.1861del (p.Ser621fs) rs1597710358
NM_001042492.3(NF1):c.1868del (p.His623fs)
NM_001042492.3(NF1):c.1876del (p.Leu626fs) rs1597710409
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.1950del (p.Leu650fs) rs1597710658
NM_001042492.3(NF1):c.1954del (p.Arg652fs) rs1597710675
NM_001042492.3(NF1):c.1955_1956del (p.Arg652fs)
NM_001042492.3(NF1):c.1955del (p.Arg652fs) rs1597710690
NM_001042492.3(NF1):c.1989del (p.Asn664fs) rs1202226733
NM_001042492.3(NF1):c.1992dup (p.Ser665fs) rs1597710824
NM_001042492.3(NF1):c.1995del (p.Ser666fs)
NM_001042492.3(NF1):c.2019C>A (p.Cys673Ter) rs146624509
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.2047_2057dup (p.Leu687fs) rs1597712403
NM_001042492.3(NF1):c.2049_2083del (p.Gln684fs)
NM_001042492.3(NF1):c.205-19T>A rs1597629649
NM_001042492.3(NF1):c.205-1G>A
NM_001042492.3(NF1):c.205-6T>A rs1243948503
NM_001042492.3(NF1):c.2050C>T (p.Gln684Ter)
NM_001042492.3(NF1):c.2064del (p.Val689fs)
NM_001042492.3(NF1):c.2086_2088del (p.Trp696del)
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.2207del (p.Asn736fs) rs1597712699
NM_001042492.3(NF1):c.2209del (p.Thr737fs)
NM_001042492.3(NF1):c.2229dup (p.Val744fs)
NM_001042492.3(NF1):c.2244dup (p.Ser749fs) rs1597712758
NM_001042492.3(NF1):c.2252-13T>A rs778325867
NM_001042492.3(NF1):c.2252-33_2252-8del rs1597713206
NM_001042492.3(NF1):c.2252-70_2326-39dup rs1555613896
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.2288T>C (p.Leu763Pro) rs199474762
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.2326-6T>G rs1597713670
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.2388del (p.Ala797fs) rs1555614011
NM_001042492.3(NF1):c.2398del (p.Glu800fs)
NM_001042492.3(NF1):c.2410-13A>G rs1567848711
NM_001042492.3(NF1):c.2410-14A>G rs773710071
NM_001042492.3(NF1):c.2410-15A>G rs1597715031
NM_001042492.3(NF1):c.2410-3T>G rs1450743199
NM_001042492.3(NF1):c.2410-9T>A rs1597715061
NM_001042492.3(NF1):c.2419del (p.Ser807fs)
NM_001042492.3(NF1):c.2429_2493del (p.Lys810fs) rs1597715102
NM_001042492.3(NF1):c.2439_2440insG (p.Lys814fs)
NM_001042492.3(NF1):c.2452del (p.Ser818fs)
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.2524_2531delinsAGCTTCCA (p.Gly842_Leu844delinsSerPheHis) rs1597715286
NM_001042492.3(NF1):c.2525del (p.Gly842fs) rs1597715284
NM_001042492.3(NF1):c.2531T>A (p.Leu844His) rs137854566
NM_001042492.3(NF1):c.2536G>C (p.Ala846Pro) rs1555614226
NM_001042492.3(NF1):c.2539dup (p.Leu847fs)
NM_001042492.3(NF1):c.2546dup (p.Val850fs)
NM_001042492.3(NF1):c.2553C>A (p.Cys851Ter) rs2230852
NM_001042492.3(NF1):c.2596_2600dup (p.Met867fs)
NM_001042492.3(NF1):c.2619_2622dup (p.Gly875Ter) rs1597715477
NM_001042492.3(NF1):c.2621_2634dup (p.Ser879delinsArgValLeuTer) rs1597715490
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.2820_2826del (p.Ile941fs) rs1597715824
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.284del (p.Ala95fs) rs1597629895
NM_001042492.3(NF1):c.2851-1G>T rs1597716274
NM_001042492.3(NF1):c.2851-6_2851-3del rs1597716256
NM_001042492.3(NF1):c.288+1G>A
NM_001042492.3(NF1):c.2883del (p.Glu962fs)
NM_001042492.3(NF1):c.289-6T>G
NM_001042492.3(NF1):c.2892dup (p.Ile965fs)
NM_001042492.3(NF1):c.289C>T (p.Gln97Ter) rs1597635615
NM_001042492.3(NF1):c.2900dup (p.Met968fs)
NM_001042492.3(NF1):c.2947del (p.His982_Leu983insTer) rs1597716380
NM_001042492.3(NF1):c.2991-11del rs1597716765
NM_001042492.3(NF1):c.2991-1G>T
NM_001042492.3(NF1):c.2991-2A>T
NM_001042492.3(NF1):c.3007_3008delinsTA (p.Gly1003Ter) rs1597716834
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.3086_3087TC[3] (p.Phe1031fs)
NM_001042492.3(NF1):c.3096C>A (p.Cys1032Ter)
NM_001042492.3(NF1):c.3114-3T>G rs773097190
NM_001042492.3(NF1):c.3114-8T>G rs1597717471
NM_001042492.3(NF1):c.3186dup (p.Cys1063fs) rs1597717672
NM_001042492.3(NF1):c.3187_3188insTA (p.Cys1063fs) rs1597717684
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.3217_3218delinsTTCC (p.Met1073fs) rs1597718755
NM_001042492.3(NF1):c.3220G>T (p.Glu1074Ter)
NM_001042492.3(NF1):c.3227dup (p.Val1077fs) rs1597718765
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.3315-3C>G rs752318318
NM_001042492.3(NF1):c.3315-8T>G rs764783865
NM_001042492.3(NF1):c.3329_3332del (p.Leu1109_Phe1110insTer)
NM_001042492.3(NF1):c.3331del (p.Phe1110_Met1111insTer)
NM_001042492.3(NF1):c.333del (p.Lys111fs) rs1597635722
NM_001042492.3(NF1):c.3370dup (p.Ser1124fs) rs1597719471
NM_001042492.3(NF1):c.3380del (p.Thr1127fs) rs1597719498
NM_001042492.3(NF1):c.3380dup (p.Gly1128fs)
NM_001042492.3(NF1):c.3381_3382del (p.Gly1128fs) rs1597719504
NM_001042492.3(NF1):c.338T>A (p.Leu113Ter)
NM_001042492.3(NF1):c.338del (p.Leu113fs) rs1597635740
NM_001042492.3(NF1):c.338dup (p.Leu113fs) rs1597635740
NM_001042492.3(NF1):c.3392_3401del (p.Lys1131fs)
NM_001042492.3(NF1):c.339del (p.Leu113fs) rs1597635745
NM_001042492.3(NF1):c.3443del (p.Ala1148fs)
NM_001042492.3(NF1):c.3452dup (p.Asn1151fs)
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.3579T>G (p.Phe1193Leu)
NM_001042492.3(NF1):c.3585_3586del (p.Leu1196fs)
NM_001042492.3(NF1):c.3604del (p.Ala1202fs) rs1597720036
NM_001042492.3(NF1):c.3658_3659insTTTG (p.Glu1220delinsValTer)
NM_001042492.3(NF1):c.365_366AC[1] (p.Thr123fs) rs1597635793
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.3827G>T (p.Arg1276Leu) 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.3871-13T>A rs1597722866
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.3975-11T>G rs1597734976
NM_001042492.3(NF1):c.3975-2A>T
NM_001042492.3(NF1):c.3977T>G (p.Leu1326Ter)
NM_001042492.3(NF1):c.4015_4028del (p.Asn1338_Leu1339insTer) rs1597735056
NM_001042492.3(NF1):c.4016T>G (p.Leu1339Arg)
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.4331A>T (p.Lys1444Met) rs199474781
NM_001042492.3(NF1):c.4333-1G>C
NM_001042492.3(NF1):c.4333del (p.Ile1445fs) rs1597745559
NM_001042492.3(NF1):c.4338del (p.Gln1447fs)
NM_001042492.3(NF1):c.4340_4341delinsCA (p.Gln1447Pro)
NM_001042492.3(NF1):c.4372G>T (p.Glu1458Ter)
NM_001042492.3(NF1):c.4381dup (p.Met1461fs) rs1597745689
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.4431-1G>T rs1597746891
NM_001042492.3(NF1):c.4431-9T>G rs1597746884
NM_001042492.3(NF1):c.4436del (p.Phe1479fs)
NM_001042492.3(NF1):c.4463del (p.Thr1488fs) rs1597746962
NM_001042492.3(NF1):c.4481del (p.His1494fs) rs1597746982
NM_001042492.3(NF1):c.4521dup (p.His1508fs)
NM_001042492.3(NF1):c.4536G>A (p.Trp1512Ter)
NM_001042492.3(NF1):c.4577+2T>G
NM_001042492.3(NF1):c.4578-1G>A
NM_001042492.3(NF1):c.4578-20_4578-18del rs1597748617
NM_001042492.3(NF1):c.4578-21T>C rs1597748607
NM_001042492.3(NF1):c.4578-2A>C
NM_001042492.3(NF1):c.4578-3T>G rs1597748656
NM_001042492.3(NF1):c.4578-3del rs1597748663
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.4669del (p.Thr1557fs) rs1597748891
NM_001042492.3(NF1):c.4673_4674dup (p.Trp1559fs)
NM_001042492.3(NF1):c.4700C>A (p.Ser1567Ter)
NM_001042492.3(NF1):c.4700C>G (p.Ser1567Ter) rs1555619051
NM_001042492.3(NF1):c.4744G>T (p.Glu1582Ter)
NM_001042492.3(NF1):c.4747G>T (p.Glu1583Ter)
NM_001042492.3(NF1):c.4756_4772del (p.Ala1586fs) rs1597753208
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.480-8C>G rs1597643692
NM_001042492.3(NF1):c.4821T>G (p.Tyr1607Ter) rs1555619416
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.4977dup (p.Ser1660fs) rs1597829782
NM_001042492.3(NF1):c.4980_4981insTT (p.Lys1661fs)
NM_001042492.3(NF1):c.4981_4984del (p.Lys1661fs)
NM_001042492.3(NF1):c.5013C>G (p.Tyr1671Ter) rs1060500255
NM_001042492.3(NF1):c.5013del (p.Ala1670_Tyr1671insTer)
NM_001042492.3(NF1):c.5034T>G (p.Tyr1678Ter)
NM_001042492.3(NF1):c.5046delinsGGTTAC (p.Cys1682fs) rs1597829913
NM_001042492.3(NF1):c.5046dup (p.Asn1683Ter) rs1597829913
NM_001042492.3(NF1):c.5049_5059del (p.Asn1683fs)
NM_001042492.3(NF1):c.5075del (p.Tyr1692fs)
NM_001042492.3(NF1):c.5076T>A (p.Tyr1692Ter) rs1597829961
NM_001042492.3(NF1):c.5092_5095del (p.Thr1698fs)
NM_001042492.3(NF1):c.5130del (p.Cys1711fs) rs1597830078
NM_001042492.3(NF1):c.5158G>T (p.Glu1720Ter)
NM_001042492.3(NF1):c.5172_5173del (p.Lys1725fs)
NM_001042492.3(NF1):c.517del (p.Asp173fs) rs1597643815
NM_001042492.3(NF1):c.5198T>A (p.Leu1733Ter)
NM_001042492.3(NF1):c.5199_5230delinsTGCT (p.Leu1733fs)
NM_001042492.3(NF1):c.5199dup (p.Glu1734fs) rs1597830232
NM_001042492.3(NF1):c.5269-19C>A rs755620051
NM_001042492.3(NF1):c.5269-2A>T rs1555533548
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.5364del (p.Ile1788fs) rs1597831986
NM_001042492.3(NF1):c.5376C>A (p.Cys1792Ter) rs1597832002
NM_001042492.3(NF1):c.5379_5380dup (p.Val1794fs) rs1597832021
NM_001042492.3(NF1):c.5392C>T (p.Gln1798Ter) rs1597832043
NM_001042492.3(NF1):c.5404del (p.Thr1802fs) rs1597832056
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.5509G>A (p.Asp1837Asn) rs771597781
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.5697T>A (p.Cys1899Ter) rs1597834760
NM_001042492.3(NF1):c.5709del (p.Asn1903fs)
NM_001042492.3(NF1):c.5737A>T (p.Lys1913Ter) rs1597834842
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.5806_5812del (p.Lys1936fs) rs1597834959
NM_001042492.3(NF1):c.5813-12_5813-9del rs1597839926
NM_001042492.3(NF1):c.5829_5830insTG (p.Leu1944fs) rs1597840008
NM_001042492.3(NF1):c.5861C>G (p.Ser1954Ter)
NM_001042492.3(NF1):c.587-14T>A rs940581106
NM_001042492.3(NF1):c.587-15_587-14del rs1597657969
NM_001042492.3(NF1):c.5886dup (p.Asn1963Ter)
NM_001042492.3(NF1):c.5901del (p.Lys1967fs) rs1597840123
NM_001042492.3(NF1):c.5914dup (p.Thr1972fs)
NM_001042492.3(NF1):c.5958dup (p.Gln1987fs)
NM_001042492.3(NF1):c.5980_5983del (p.Ala1994fs) rs1597840291
NM_001042492.3(NF1):c.6009del (p.Thr2004fs) rs1179712488
NM_001042492.3(NF1):c.6013del (p.Asp2005fs) rs1597842221
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.6148-13T>A rs1411146465
NM_001042492.3(NF1):c.6148-16T>G rs769223408
NM_001042492.3(NF1):c.6148-3C>A rs1597842697
NM_001042492.3(NF1):c.6148-4_6148-2del
NM_001042492.3(NF1):c.6149_6150delinsGGC (p.Val2050fs) rs1597842710
NM_001042492.3(NF1):c.6165C>A (p.Cys2055Ter)
NM_001042492.3(NF1):c.6186_6187insG (p.Leu2063fs)
NM_001042492.3(NF1):c.6246del (p.Arg2083fs) rs1597842843
NM_001042492.3(NF1):c.6303del (p.Tyr2102fs) rs1597842936
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.6360_6363dup (p.Thr2122fs) rs1597843096
NM_001042492.3(NF1):c.6361del (p.Ser2121fs)
NM_001042492.3(NF1):c.6388del (p.Ile2130fs) rs1597843169
NM_001042492.3(NF1):c.6399_6400GT[1] (p.Cys2134fs) rs1597843186
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.6428-3C>G rs374014162
NM_001042492.3(NF1):c.6428-3del rs1597843640
NM_001042492.3(NF1):c.643del (p.Ser215fs) rs1597658192
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.6546C>G (p.Tyr2182Ter) rs876659768
NM_001042492.3(NF1):c.655-12_655-9del rs1597658505
NM_001042492.3(NF1):c.655-2A>G
NM_001042492.3(NF1):c.6576T>A (p.Tyr2192Ter)
NM_001042492.3(NF1):c.6577_6578GA[3] (p.Glu2195fs) rs1131691084
NM_001042492.3(NF1):c.6580del (p.Arg2194fs)
NM_001042492.3(NF1):c.6590_6591del (p.Phe2197fs)
NM_001042492.3(NF1):c.6596T>A (p.Leu2199Ter) rs1597843979
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.6675G>A (p.Trp2225Ter)
NM_001042492.3(NF1):c.6687G>A (p.Trp2229Ter) rs1597844653
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.6705-5T>G rs1597844956
NM_001042492.3(NF1):c.6705-6T>G rs1597844950
NM_001042492.3(NF1):c.6705-7_6705-6insAAAA
NM_001042492.3(NF1):c.6719_6723del (p.Tyr2240fs)
NM_001042492.3(NF1):c.6794del (p.Lys2265fs) rs1597845155
NM_001042492.3(NF1):c.67del (p.Pro22_Ile23insTer) rs1597625799
NM_001042492.3(NF1):c.6802del (p.Ile2268fs)
NM_001042492.3(NF1):c.6819+2T>G
NM_001042492.3(NF1):c.6819+2_6826del rs1597845213
NM_001042492.3(NF1):c.6820-10T>G rs1597845883
NM_001042492.3(NF1):c.6820-9T>G rs1597845886
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.6847dup (p.Asp2283fs)
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.6906del (p.Gln2302fs) rs1597846091
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.7040del (p.Ser2347fs) rs1597848220
NM_001042492.3(NF1):c.7059_7062dup (p.Ser2355fs)
NM_001042492.3(NF1):c.705C>A (p.Tyr235Ter)
NM_001042492.3(NF1):c.7062+1G>T rs863224492
NM_001042492.3(NF1):c.7062+1_7062+5del rs1567619134
NM_001042492.3(NF1):c.7063-10T>G rs1597851210
NM_001042492.3(NF1):c.7063-3T>G rs1241158120
NM_001042492.3(NF1):c.7063-4A>G
NM_001042492.3(NF1):c.706dup (p.Gln236fs) rs1597658661
NM_001042492.3(NF1):c.7090dup (p.Arg2364fs) rs1597851299
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.7186A>T (p.Lys2396Ter) rs1597851489
NM_001042492.3(NF1):c.7189+1G>C
NM_001042492.3(NF1):c.7189+1G>T
NM_001042492.3(NF1):c.7190-12T>A rs1597858284
NM_001042492.3(NF1):c.7190-1G>A
NM_001042492.3(NF1):c.7190-20T>A rs1597858261
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.7249del (p.Leu2416_Leu2417insTer) rs1597858445
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.731-14T>G rs1597659694
NM_001042492.3(NF1):c.731-1_731del rs1555608925
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.7458-2_7459del rs1597862010
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.7505_7508dup (p.Tyr2503Ter) rs1597862086
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.7602dup (p.Lys2535Ter)
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.7614del (p.Gly2539fs)
NM_001042492.3(NF1):c.7628del (p.Ser2543fs)
NM_001042492.3(NF1):c.7646C>A (p.Ser2549Ter)
NM_001042492.3(NF1):c.768del (p.Phe256fs) rs1597659830
NM_001042492.3(NF1):c.7724_7725dup (p.Asp2576fs) rs1597865858
NM_001042492.3(NF1):c.7725_7726del (p.Asp2576fs)
NM_001042492.3(NF1):c.7739-3C>G rs747382969
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.7838del (p.Pro2613fs) rs1131691129
NM_001042492.3(NF1):c.7839del (p.Lys2614fs)
NM_001042492.3(NF1):c.7847_7850del (p.Gln2616fs) rs1597866554
NM_001042492.3(NF1):c.7869+1G>C
NM_001042492.3(NF1):c.786_787insTT (p.Lys263fs) rs1597659879
NM_001042492.3(NF1):c.7870-24_7870-19delinsTTTTAG rs1597866743
NM_001042492.3(NF1):c.7870-3C>G rs1597866792
NM_001042492.3(NF1):c.7898del (p.Glu2633fs) rs1597866854
NM_001042492.3(NF1):c.7908del (p.Gln2636fs) rs1597866872
NM_001042492.3(NF1):c.790del (p.Ala264fs) rs1597659893
NM_001042492.3(NF1):c.7923del (p.Glu2641fs) rs1597866921
NM_001042492.3(NF1):c.792dup (p.Ala265fs) rs1597659896
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.8161-3C>G rs786203684
NM_001042492.3(NF1):c.8203del (p.Asp2736fs)
NM_001042492.3(NF1):c.820_823dup (p.Ile275fs)
NM_001042492.3(NF1):c.827T>A (p.Leu276Ter)
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.84del (p.Asn29fs) rs1555604877
NM_001042492.3(NF1):c.851_854dup (p.Lys286fs)
NM_001042492.3(NF1):c.875del (p.Asn292fs) rs1597660090
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.889-21C>A rs753797445
NM_001042492.3(NF1):c.903_913del (p.Asp301fs)
NM_001042492.3(NF1):c.926del (p.Gly309fs) rs1597680816
NM_001042492.3(NF1):c.93dup (p.Thr32fs) rs1597625887
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.979_997del (p.Leu327fs) rs1597680978
NM_001042492.3(NF1):c.997dup (p.Tyr333fs)
NM_001042492.3(NF1):c.998dup (p.Tyr333Ter)
Single allele

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