NM_001042492.3(NF1):c.4357G>A (p.Val1453Ile)
|
rs199474755
|
0.00002
|
NM_001042492.3(NF1):c.2350T>C (p.Trp784Arg)
|
rs199474730
|
0.00001
|
NM_001042492.3(NF1):c.278G>A (p.Cys93Tyr)
|
rs199474728
|
0.00001
|
NM_001042492.3(NF1):c.3586C>T (p.Leu1196Phe)
|
rs1555615039
|
0.00001
|
NM_001042492.3(NF1):c.3610C>T (p.Arg1204Trp)
|
rs199474732
|
0.00001
|
NM_001042492.3(NF1):c.6674G>A (p.Trp2225Ter)
|
rs1193716348
|
0.00001
|
NM_001042492.3(NF1):c.7700C>T (p.Pro2567Leu)
|
rs754511534
|
0.00001
|
NC_000017.10:g.(?_29475515)_(29490414_?)dup
|
|
|
NC_000017.10:g.(?_29482991)_(29548957_?)dup
|
|
|
NC_000017.10:g.(?_29508426)_(29510472_?)dup
|
|
|
NC_000017.10:g.(?_29540877)_(29563299_?)dup
|
|
|
NC_000017.10:g.(?_29541449)_(29557963_?)dup
|
|
|
NC_000017.10:g.(?_29556023)_(29563059_?)dup
|
|
|
NC_000017.10:g.(?_29556977)_(29561861_?)del
|
|
|
NC_000017.10:g.(?_29562619)_(29563299_?)dup
|
|
|
NC_000017.10:g.(?_29575982)_(29587553_?)del
|
|
|
NC_000017.10:g.(?_29575992)_(29587543_?)del
|
|
|
NC_000017.10:g.(?_29585352)_(29588885_?)dup
|
|
|
NC_000017.10:g.(?_29652828)_(29657526_?)dup
|
|
|
NC_000017.10:g.(?_29663341)_(29665833_?)del
|
|
|
NC_000017.10:g.(?_29679379)_(29680920_?)del
|
|
|
NC_000017.11:g.(?_31169881)_(31249129_?)dup
|
|
|
NC_000017.11:g.(?_31336313)_(31340665_?)del
|
|
|
NC_000017.11:g.(?_31342999)_(31360713_?)del
|
|
|
NM_000267.3(NF1):c.3015_3315-230del
|
|
|
NM_000267.3(NF1):c.5944-?_6858+?del
|
|
|
NM_001042492.3(NF1):c.1019_1020del (p.Ser340fs)
|
rs1555610903
|
|
NM_001042492.3(NF1):c.1038del (p.Gln347fs)
|
rs2143874352
|
|
NM_001042492.3(NF1):c.1061_1062+12del
|
|
|
NM_001042492.3(NF1):c.1062+2dup
|
rs2066510417
|
|
NM_001042492.3(NF1):c.1062+3A>G
|
rs1057521098
|
|
NM_001042492.3(NF1):c.1062G>A (p.Lys354=)
|
rs1131691118
|
|
NM_001042492.3(NF1):c.1062G>C (p.Lys354Asn)
|
rs1131691118
|
|
NM_001042492.3(NF1):c.1062G>T (p.Lys354Asn)
|
rs1131691118
|
|
NM_001042492.3(NF1):c.1062_1062+6del
|
rs2066510244
|
|
NM_001042492.3(NF1):c.1063-1G>C
|
rs1555610955
|
|
NM_001042492.3(NF1):c.1063-3_1063del
|
|
|
NM_001042492.3(NF1):c.1073_1074insA (p.Phe358fs)
|
rs1555610971
|
|
NM_001042492.3(NF1):c.1077del (p.Pro360fs)
|
rs1555610972
|
|
NM_001042492.3(NF1):c.108_111dup (p.His38Ter)
|
rs2065655815
|
|
NM_001042492.3(NF1):c.1104_1107del (p.Gln369fs)
|
rs1555610984
|
|
NM_001042492.3(NF1):c.1129_1136del (p.Ile377fs)
|
rs2066520145
|
|
NM_001042492.3(NF1):c.1139T>A (p.Leu380His)
|
rs1555611004
|
|
NM_001042492.3(NF1):c.1144del (p.Ser382fs)
|
rs1135402802
|
|
NM_001042492.3(NF1):c.1181_1182dup (p.Lys395fs)
|
rs1597682159
|
|
NM_001042492.3(NF1):c.1183_1185+2del
|
rs1555611039
|
|
NM_001042492.3(NF1):c.1185+1G>T
|
rs864622161
|
|
NM_001042492.3(NF1):c.1185G>A (p.Lys395=)
|
rs1567835847
|
|
NM_001042492.3(NF1):c.1186-1G>T
|
rs876660782
|
|
NM_001042492.3(NF1):c.1186-2A>G
|
rs1373365576
|
|
NM_001042492.3(NF1):c.1188_1189del (p.Ile396fs)
|
rs1597682729
|
|
NM_001042492.3(NF1):c.122A>T (p.Glu41Val)
|
rs786203038
|
|
NM_001042492.3(NF1):c.1235A>G (p.Asn412Ser)
|
rs1567836090
|
|
NM_001042492.3(NF1):c.1245del (p.Arg416fs)
|
rs1555611098
|
|
NM_001042492.3(NF1):c.1251_1260+25del
|
rs2066528976
|
|
NM_001042492.3(NF1):c.1254del (p.Thr419fs)
|
rs761430357
|
|
NM_001042492.3(NF1):c.1260+1del
|
rs2143887087
|
|
NM_001042492.3(NF1):c.1260+2T>C
|
rs1555611110
|
|
NM_001042492.3(NF1):c.1260+2T>G
|
rs1555611110
|
|
NM_001042492.3(NF1):c.1260+2_1260+3insTT
|
rs1597682922
|
|
NM_001042492.3(NF1):c.1260+5G>C
|
rs1060500253
|
|
NM_001042492.3(NF1):c.1261-19G>A
|
rs1597688663
|
|
NM_001042492.3(NF1):c.128T>A (p.Leu43Gln)
|
rs1555604899
|
|
NM_001042492.3(NF1):c.1328T>C (p.Phe443Ser)
|
rs1555611581
|
|
NM_001042492.3(NF1):c.1392+1G>A
|
rs267604791
|
|
NM_001042492.3(NF1):c.1392+2_1392+8del
|
|
|
NM_001042492.3(NF1):c.1392+2del
|
rs1597689068
|
|
NM_001042492.3(NF1):c.1393-1G>C
|
rs1131691131
|
|
NM_001042492.3(NF1):c.1393-2A>G
|
rs1555612266
|
|
NM_001042492.3(NF1):c.1393-3_1393-2del
|
rs2066785062
|
|
NM_001042492.3(NF1):c.1393-592A>G
|
rs2066773116
|
|
NM_001042492.3(NF1):c.1393-5_1398del
|
rs2143958483
|
|
NM_001042492.3(NF1):c.1393-7_1393-2del
|
|
|
NM_001042492.3(NF1):c.1405A>G (p.Lys469Glu)
|
rs1555612271
|
|
NM_001042492.3(NF1):c.140C>T (p.Ser47Phe)
|
|
|
NM_001042492.3(NF1):c.1413_1414delinsT (p.Lys471fs)
|
rs1555612273
|
|
NM_001042492.3(NF1):c.1426A>G (p.Lys476Glu)
|
rs2066785949
|
|
NM_001042492.3(NF1):c.1490del (p.Val497fs)
|
rs1555612286
|
|
NM_001042492.3(NF1):c.1496T>G (p.Leu499Arg)
|
rs1555612288
|
|
NM_001042492.3(NF1):c.1502_1503insGGAAATTCA (p.Ile500_His501insGlnGluIle)
|
|
|
NM_001042492.3(NF1):c.1513A>G (p.Lys505Glu)
|
rs2066787606
|
|
NM_001042492.3(NF1):c.1527+1159C>T
|
rs878853868
|
|
NM_001042492.3(NF1):c.1527+1G>C
|
rs1060500331
|
|
NM_001042492.3(NF1):c.1527+2T>C
|
rs1064796700
|
|
NM_001042492.3(NF1):c.1527+2dup
|
rs1597698533
|
|
NM_001042492.3(NF1):c.1527+4_1527+7del
|
rs1555612294
|
|
NM_001042492.3(NF1):c.1527+5G>C
|
rs1060500352
|
|
NM_001042492.3(NF1):c.1527+5G>T
|
rs1060500352
|
|
NM_001042492.3(NF1):c.1528-2A>C
|
rs1368005133
|
|
NM_001042492.3(NF1):c.1528-2A>G
|
rs1368005133
|
|
NM_001042492.3(NF1):c.1585C>T (p.Leu529Phe)
|
rs1135402816
|
|
NM_001042492.3(NF1):c.1586T>G (p.Leu529Arg)
|
|
|
NM_001042492.3(NF1):c.1598T>G (p.Val533Gly)
|
rs1555612857
|
|
NM_001042492.3(NF1):c.1607C>G (p.Ser536Ter)
|
rs1555612859
|
|
NM_001042492.3(NF1):c.1634C>A (p.Ala545Glu)
|
|
|
NM_001042492.3(NF1):c.1641+1G>A
|
rs1555612866
|
|
NM_001042492.3(NF1):c.1641+2T>C
|
rs1555612867
|
|
NM_001042492.3(NF1):c.1641+2_1641+3del
|
|
|
NM_001042492.3(NF1):c.1641+2del
|
rs1135402818
|
|
NM_001042492.3(NF1):c.1642-10A>G
|
rs1597706578
|
|
NM_001042492.3(NF1):c.1646T>C (p.Leu549Pro)
|
rs199474758
|
|
NM_001042492.3(NF1):c.1649T>C (p.Leu550Pro)
|
rs886052798
|
|
NM_001042492.3(NF1):c.1652TTC[1] (p.Leu552del)
|
rs2144003808
|
|
NM_001042492.3(NF1):c.1655T>A (p.Leu552His)
|
|
|
NM_001042492.3(NF1):c.1655T>C (p.Leu552Pro)
|
rs1555613193
|
|
NM_001042492.3(NF1):c.1657C>G (p.His553Asp)
|
|
|
NM_001042492.3(NF1):c.1658A>C (p.His553Pro)
|
rs1064794274
|
|
NM_001042492.3(NF1):c.1658A>G (p.His553Arg)
|
rs1064794274
|
|
NM_001042492.3(NF1):c.1660C>T (p.Gln554Ter)
|
rs953440640
|
|
NM_001042492.3(NF1):c.1720A>G (p.Ser574Gly)
|
|
|
NM_001042492.3(NF1):c.1721G>A (p.Ser574Asn)
|
rs1555613206
|
|
NM_001042492.3(NF1):c.1722-26T>C
|
rs1597708542
|
|
NM_001042492.3(NF1):c.1722-2A>C
|
rs763983337
|
|
NM_001042492.3(NF1):c.1730T>G (p.Met577Arg)
|
|
|
NM_001042492.3(NF1):c.1733T>C (p.Leu578Pro)
|
rs199474774
|
|
NM_001042492.3(NF1):c.1733T>G (p.Leu578Arg)
|
rs199474774
|
|
NM_001042492.3(NF1):c.1738del (p.Tyr580fs)
|
rs786204255
|
|
NM_001042492.3(NF1):c.173T>C (p.Leu58Pro)
|
rs1597626094
|
|
NM_001042492.3(NF1):c.173T>G (p.Leu58Arg)
|
rs1597626094
|
|
NM_001042492.3(NF1):c.1745G>T (p.Cys582Phe)
|
rs2066962321
|
|
NM_001042492.3(NF1):c.1748A>G (p.Lys583Arg)
|
rs199474760
|
|
NM_001042492.3(NF1):c.175A>C (p.Thr59Pro)
|
|
|
NM_001042492.3(NF1):c.1808T>A (p.Ile603Lys)
|
rs2144016800
|
|
NM_001042492.3(NF1):c.1845+1_1845+5del
|
rs1135402822
|
|
NM_001042492.3(NF1):c.1845+2T>C
|
rs1555613430
|
|
NM_001042492.3(NF1):c.1845+3_1845+4insGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAGGTA
|
|
|
NM_001042492.3(NF1):c.1846C>T (p.Gln616Ter)
|
rs1555613543
|
|
NM_001042492.3(NF1):c.1884del (p.Phe627_Tyr628insTer)
|
rs2066990429
|
|
NM_001042492.3(NF1):c.188del (p.Lys63fs)
|
rs1555604939
|
|
NM_001042492.3(NF1):c.1890del (p.Gly631fs)
|
|
|
NM_001042492.3(NF1):c.1931_1934del (p.Ser644fs)
|
rs2066991740
|
|
NM_001042492.3(NF1):c.1986del (p.Asn664fs)
|
rs2066993468
|
|
NM_001042492.3(NF1):c.2001+1G>A
|
rs2066994053
|
|
NM_001042492.3(NF1):c.2002-14C>G
|
|
|
NM_001042492.3(NF1):c.2002-2_2002-1del
|
rs2151425505
|
|
NM_001042492.3(NF1):c.2002-4_2010del
|
rs878853871
|
|
NM_001042492.3(NF1):c.2010del (p.Ala671fs)
|
rs1597712251
|
|
NM_001042492.3(NF1):c.2035dup (p.Ile679fs)
|
rs1555613773
|
|
NM_001042492.3(NF1):c.204+3_204+6del
|
rs1567814632
|
|
NM_001042492.3(NF1):c.2066del (p.Val689fs)
|
|
|
NM_001042492.3(NF1):c.2072T>C (p.Leu691Pro)
|
rs1131691132
|
|
NM_001042492.3(NF1):c.2084T>C (p.Leu695Pro)
|
rs199474761
|
|
NM_001042492.3(NF1):c.2099del (p.Thr700fs)
|
|
|
NM_001042492.3(NF1):c.2117C>T (p.Ala706Val)
|
rs2151425819
|
|
NM_001042492.3(NF1):c.2125T>C (p.Cys709Arg)
|
rs1131691095
|
|
NM_001042492.3(NF1):c.2126_2135delinsCC (p.Cys709fs)
|
|
|
NM_001042492.3(NF1):c.2163T>A (p.Cys721Ter)
|
rs1555613816
|
|
NM_001042492.3(NF1):c.2187dup (p.Asn730Ter)
|
rs1555613821
|
|
NM_001042492.3(NF1):c.2251+1G>C
|
rs1555613843
|
|
NM_001042492.3(NF1):c.2251+1G>T
|
rs1555613843
|
|
NM_001042492.3(NF1):c.2251G>A (p.Gly751Arg)
|
rs1567847681
|
|
NM_001042492.3(NF1):c.2251G>C (p.Gly751Arg)
|
rs1567847681
|
|
NM_001042492.3(NF1):c.2252-1G>C
|
rs587781577
|
|
NM_001042492.3(NF1):c.2252-1G>T
|
rs587781577
|
|
NM_001042492.3(NF1):c.2252-2A>G
|
rs1131691105
|
|
NM_001042492.3(NF1):c.2252-3T>G
|
rs1057518842
|
|
NM_001042492.3(NF1):c.2269A>T (p.Lys757Ter)
|
rs1270674587
|
|
NM_001042492.3(NF1):c.2288T>C (p.Leu763Pro)
|
rs199474762
|
|
NM_001042492.3(NF1):c.2288T>G (p.Leu763Arg)
|
rs199474762
|
|
NM_001042492.3(NF1):c.2309_2315dup (p.Asn773fs)
|
rs1555613926
|
|
NM_001042492.3(NF1):c.2325+3A>T
|
|
|
NM_001042492.3(NF1):c.2325G>A (p.Glu775=)
|
rs1555613932
|
|
NM_001042492.3(NF1):c.2326-1G>C
|
rs1567848100
|
|
NM_001042492.3(NF1):c.2326-1G>T
|
rs1567848100
|
|
NM_001042492.3(NF1):c.2326-2A>G
|
rs1555613975
|
|
NM_001042492.3(NF1):c.2326-4_2326-1del
|
rs2067037065
|
|
NM_001042492.3(NF1):c.2326-6_2338del
|
|
|
NM_001042492.3(NF1):c.2329T>A (p.Trp777Arg)
|
rs876658853
|
|
NM_001042492.3(NF1):c.2329T>G (p.Trp777Gly)
|
rs876658853
|
|
NM_001042492.3(NF1):c.2330G>C (p.Trp777Ser)
|
rs199474745
|
|
NM_001042492.3(NF1):c.2331G>A (p.Trp777Ter)
|
rs1555613983
|
|
NM_001042492.3(NF1):c.2339C>A (p.Thr780Lys)
|
rs199474746
|
|
NM_001042492.3(NF1):c.2339C>G (p.Thr780Arg)
|
rs199474746
|
|
NM_001042492.3(NF1):c.2342A>C (p.His781Pro)
|
rs199474763
|
|
NM_001042492.3(NF1):c.2344dup (p.Ala782fs)
|
rs2151427470
|
|
NM_001042492.3(NF1):c.2350T>A (p.Trp784Arg)
|
rs199474730
|
|
NM_001042492.3(NF1):c.2350T>G (p.Trp784Gly)
|
|
|
NM_001042492.3(NF1):c.2352G>C (p.Trp784Cys)
|
rs199474778
|
|
NM_001042492.3(NF1):c.2375T>A (p.Leu792His)
|
rs1597713777
|
|
NM_001042492.3(NF1):c.238del (p.Tyr80fs)
|
rs2065717116
|
|
NM_001042492.3(NF1):c.2392A>C (p.Lys798Gln)
|
rs1135402830
|
|
NM_001042492.3(NF1):c.2396_2409+4del
|
rs2067039276
|
|
NM_001042492.3(NF1):c.2410-13A>G
|
rs1567848711
|
|
NM_001042492.3(NF1):c.2410-16A>G
|
rs1567848704
|
|
NM_001042492.3(NF1):c.243_254delinsTGAGAGAGA (p.Ser82_Ile85delinsGluArgAsp)
|
rs1597629809
|
|
NM_001042492.3(NF1):c.245C>T (p.Ser82Phe)
|
rs199474729
|
|
NM_001042492.3(NF1):c.2509T>C (p.Trp837Arg)
|
rs587781747
|
|
NM_001042492.3(NF1):c.2521A>C (p.Thr841Pro)
|
rs2067066952
|
|
NM_001042492.3(NF1):c.2530C>T (p.Leu844Phe)
|
rs199474785
|
|
NM_001042492.3(NF1):c.2531T>C (p.Leu844Pro)
|
rs137854566
|
|
NM_001042492.3(NF1):c.2534G>T (p.Cys845Phe)
|
rs1060500367
|
|
NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro)
|
rs199474747
|
|
NM_001042492.3(NF1):c.2542G>C (p.Gly848Arg)
|
rs1060500368
|
|
NM_001042492.3(NF1):c.2552del (p.Cys851fs)
|
rs1555614260
|
|
NM_001042492.3(NF1):c.2560C>T (p.Gln854Ter)
|
rs1555614261
|
|
NM_001042492.3(NF1):c.2665dup (p.Thr889fs)
|
rs886041348
|
|
NM_001042492.3(NF1):c.2681T>C (p.Phe894Ser)
|
rs1282493551
|
|
NM_001042492.3(NF1):c.2693T>A (p.Leu898Gln)
|
rs199474786
|
|
NM_001042492.3(NF1):c.2693T>C (p.Leu898Pro)
|
rs199474786
|
|
NM_001042492.3(NF1):c.269T>A (p.Leu90Gln)
|
rs1555605393
|
|
NM_001042492.3(NF1):c.269T>G (p.Leu90Arg)
|
rs1555605393
|
|
NM_001042492.3(NF1):c.270_272dup (p.Glu91dup)
|
rs2065717991
|
|
NM_001042492.3(NF1):c.2739dup (p.Arg914fs)
|
rs1555614319
|
|
NM_001042492.3(NF1):c.2764G>A (p.Gly922Ser)
|
rs1135402831
|
|
NM_001042492.3(NF1):c.279T>G (p.Cys93Trp)
|
rs1597629882
|
|
NM_001042492.3(NF1):c.2823del (p.Ser942fs)
|
rs2067074423
|
|
NM_001042492.3(NF1):c.2835del (p.Phe945fs)
|
rs1567849208
|
|
NM_001042492.3(NF1):c.2842dup (p.Gln948fs)
|
rs1555614354
|
|
NM_001042492.3(NF1):c.2846dup (p.Gln950fs)
|
rs1555614358
|
|
NM_001042492.3(NF1):c.2851-1_2857del
|
|
|
NM_001042492.3(NF1):c.2851G>T (p.Val951Phe)
|
rs1597716277
|
|
NM_001042492.3(NF1):c.2855_2856insG (p.Leu953fs)
|
rs2067082667
|
|
NM_001042492.3(NF1):c.2870A>T (p.Asn957Ile)
|
rs1135402834
|
|
NM_001042492.3(NF1):c.2870_2871delinsTC (p.Asn957Ile)
|
rs2151430516
|
|
NM_001042492.3(NF1):c.2873_2877delinsTGG (p.Thr958fs)
|
rs1555614426
|
|
NM_001042492.3(NF1):c.2876_2877insG (p.Phe960fs)
|
rs1555614429
|
|
NM_001042492.3(NF1):c.288+4A>G
|
rs781459468
|
|
NM_001042492.3(NF1):c.288+5G>A
|
rs1555605409
|
|
NM_001042492.3(NF1):c.288G>A (p.Gly96=)
|
rs1430988476
|
|
NM_001042492.3(NF1):c.2894T>A (p.Ile965Lys)
|
rs1555614438
|
|
NM_001042492.3(NF1):c.2894T>G (p.Ile965Arg)
|
rs1555614438
|
|
NM_001042492.3(NF1):c.2894_2900del (p.Ile965fs)
|
rs2067083472
|
|
NM_001042492.3(NF1):c.2915T>C (p.Leu972Pro)
|
rs1597716348
|
|
NM_001042492.3(NF1):c.2940del (p.Glu981fs)
|
rs2067084312
|
|
NM_001042492.3(NF1):c.2948del (p.Leu983fs)
|
rs2067084444
|
|
NM_001042492.3(NF1):c.2970_2972del (p.Met992del)
|
rs267606606
|
|
NM_001042492.3(NF1):c.2972T>G (p.Met991Arg)
|
rs1060500298
|
|
NM_001042492.3(NF1):c.2990+1G>A
|
rs1135402836
|
|
NM_001042492.3(NF1):c.2990+1del
|
|
|
NM_001042492.3(NF1):c.2990+5G>A
|
rs1555614464
|
|
NM_001042492.3(NF1):c.2990G>A (p.Arg997Lys)
|
rs1555614462
|
|
NM_001042492.3(NF1):c.2990G>C (p.Arg997Thr)
|
rs1555614462
|
|
NM_001042492.3(NF1):c.2990G>T (p.Arg997Met)
|
rs1555614462
|
|
NM_001042492.3(NF1):c.2991-11T>G
|
|
|
NM_001042492.3(NF1):c.2991-2A>C
|
rs1555614495
|
|
NM_001042492.3(NF1):c.2991-2A>G
|
rs1555614495
|
|
NM_001042492.3(NF1):c.2991-3T>G
|
rs1597716778
|
|
NM_001042492.3(NF1):c.2991-8_3000del
|
rs2067089729
|
|
NM_001042492.3(NF1):c.2991G>C (p.Arg997Ser)
|
rs755501749
|
|
NM_001042492.3(NF1):c.2991G>T (p.Arg997Ser)
|
rs755501749
|
|
NM_001042492.3(NF1):c.2998_2999del (p.Arg1000fs)
|
rs1597716817
|
|
NM_001042492.3(NF1):c.3007_3020del (p.Gly1003fs)
|
rs2067090473
|
|
NM_001042492.3(NF1):c.3009_3018del (p.Asn1004fs)
|
rs2067090561
|
|
NM_001042492.3(NF1):c.3044T>C (p.Leu1015Pro)
|
rs1131691112
|
|
NM_001042492.3(NF1):c.3047G>A (p.Cys1016Tyr)
|
rs2067091492
|
|
NM_001042492.3(NF1):c.3047G>T (p.Cys1016Phe)
|
rs2067091492
|
|
NM_001042492.3(NF1):c.3048T>G (p.Cys1016Trp)
|
rs1135402840
|
|
NM_001042492.3(NF1):c.3063_3065del (p.Met1023del)
|
rs2151431646
|
|
NM_001042492.3(NF1):c.3063_3067dup (p.Met1023delinsLysTer)
|
rs2067092112
|
|
NM_001042492.3(NF1):c.3082_3086del (p.Asp1028fs)
|
rs2151431696
|
|
NM_001042492.3(NF1):c.3104T>A (p.Met1035Lys)
|
rs137854553
|
|
NM_001042492.3(NF1):c.3104T>C (p.Met1035Thr)
|
rs137854553
|
|
NM_001042492.3(NF1):c.3112A>G (p.Arg1038Gly)
|
rs1597717017
|
|
NM_001042492.3(NF1):c.3113+2T>G
|
rs876658997
|
|
NM_001042492.3(NF1):c.3113+2del
|
|
|
NM_001042492.3(NF1):c.3113+5G>C
|
rs1555614549
|
|
NM_001042492.3(NF1):c.3113+5G>T
|
|
|
NM_001042492.3(NF1):c.3114-1G>A
|
rs1555614611
|
|
NM_001042492.3(NF1):c.3114-2A>G
|
rs1428885377
|
|
NM_001042492.3(NF1):c.3118A>G (p.Lys1040Glu)
|
rs1555614619
|
|
NM_001042492.3(NF1):c.3119A>C (p.Lys1040Thr)
|
|
|
NM_001042492.3(NF1):c.3124del (p.Met1041_Val1042insTer)
|
rs1555614624
|
|
NM_001042492.3(NF1):c.3142T>C (p.Trp1048Arg)
|
rs1555614634
|
|
NM_001042492.3(NF1):c.3196del (p.Arg1066fs)
|
rs2067102964
|
|
NM_001042492.3(NF1):c.3197+2del
|
rs1597717694
|
|
NM_001042492.3(NF1):c.3197+491_3384del
|
|
|
NM_001042492.3(NF1):c.3198-314G>A
|
rs2067116490
|
|
NM_001042492.3(NF1):c.3211G>C (p.Ala1071Pro)
|
rs2067122183
|
|
NM_001042492.3(NF1):c.3236T>C (p.Leu1079Pro)
|
rs2151433731
|
|
NM_001042492.3(NF1):c.3239T>C (p.Leu1080Pro)
|
rs1555614833
|
|
NM_001042492.3(NF1):c.3250C>A (p.Pro1084Thr)
|
rs1555614848
|
|
NM_001042492.3(NF1):c.3250C>G (p.Pro1084Ala)
|
rs1555614848
|
|
NM_001042492.3(NF1):c.3250C>T (p.Pro1084Ser)
|
rs1555614848
|
|
NM_001042492.3(NF1):c.3250_3254del (p.Pro1084fs)
|
|
|
NM_001042492.3(NF1):c.3251C>G (p.Pro1084Arg)
|
rs1164081667
|
|
NM_001042492.3(NF1):c.3251C>T (p.Pro1084Leu)
|
rs1164081667
|
|
NM_001042492.3(NF1):c.3277G>A (p.Val1093Met)
|
rs1555614858
|
|
NM_001042492.3(NF1):c.3288_3294dup (p.Lys1099fs)
|
rs1555614862
|
|
NM_001042492.3(NF1):c.3295A>G (p.Lys1099Glu)
|
|
|
NM_001042492.3(NF1):c.3301_3302del (p.Gln1101fs)
|
rs1555614866
|
|
NM_001042492.3(NF1):c.3302A>T (p.Gln1101Leu)
|
rs2151433891
|
|
NM_001042492.3(NF1):c.3313A>T (p.Lys1105Ter)
|
rs1555614867
|
|
NM_001042492.3(NF1):c.3315-8T>G
|
rs764783865
|
|
NM_001042492.3(NF1):c.3317A>G (p.Tyr1106Cys)
|
rs1567850987
|
|
NM_001042492.3(NF1):c.3318C>A (p.Tyr1106Ter)
|
rs876659289
|
|
NM_001042492.3(NF1):c.3324_3325del (p.Leu1109fs)
|
rs1555614918
|
|
NM_001042492.3(NF1):c.3329_3332del (p.Leu1109_Phe1110insTer)
|
rs2067134264
|
|
NM_001042492.3(NF1):c.3357del (p.Val1120fs)
|
rs1555614934
|
|
NM_001042492.3(NF1):c.3362_3365del (p.Glu1121fs)
|
rs2067135200
|
|
NM_001042492.3(NF1):c.3378_3381dup (p.Gly1128fs)
|
rs1597719490
|
|
NM_001042492.3(NF1):c.3394del (p.Arg1132fs)
|
|
|
NM_001042492.3(NF1):c.3427C>T (p.His1143Tyr)
|
rs1555614963
|
|
NM_001042492.3(NF1):c.3436G>C (p.Val1146Leu)
|
rs201047812
|
|
NM_001042492.3(NF1):c.3437T>A (p.Val1146Asp)
|
rs2067137147
|
|
NM_001042492.3(NF1):c.3445A>G (p.Met1149Val)
|
rs1187097568
|
|
NM_001042492.3(NF1):c.3446T>G (p.Met1149Arg)
|
rs1131691121
|
|
NM_001042492.3(NF1):c.3447G>A (p.Met1149Ile)
|
rs1064794277
|
|
NM_001042492.3(NF1):c.3447G>C (p.Met1149Ile)
|
rs1064794277
|
|
NM_001042492.3(NF1):c.3447G>T (p.Met1149Ile)
|
rs1064794277
|
|
NM_001042492.3(NF1):c.3461A>T (p.Asn1154Ile)
|
rs371544233
|
|
NM_001042492.3(NF1):c.3464C>A (p.Ala1155Asp)
|
|
|
NM_001042492.3(NF1):c.3467A>C (p.Asn1156Thr)
|
rs199474764
|
|
NM_001042492.3(NF1):c.3468C>A (p.Asn1156Lys)
|
rs147955381
|
|
NM_001042492.3(NF1):c.3479G>A (p.Gly1160Asp)
|
rs2067138342
|
|
NM_001042492.3(NF1):c.3496+3G>T
|
rs1060500287
|
|
NM_001042492.3(NF1):c.3497-1G>A
|
rs1555615004
|
|
NM_001042492.3(NF1):c.3497-1G>C
|
|
|
NM_001042492.3(NF1):c.3497-2A>T
|
|
|
NM_001042492.3(NF1):c.3503G>A (p.Gly1168Asp)
|
rs2151435263
|
|
NM_001042492.3(NF1):c.3509A>T (p.His1170Leu)
|
rs1597719889
|
|
NM_001042492.3(NF1):c.350T>G (p.Ile117Ser)
|
rs199474731
|
|
NM_001042492.3(NF1):c.3545T>C (p.Val1182Ala)
|
rs2067142076
|
|
NM_001042492.3(NF1):c.3560T>G (p.Leu1187Arg)
|
rs2151435424
|
|
NM_001042492.3(NF1):c.3572C>G (p.Thr1191Arg)
|
rs2151435462
|
|
NM_001042492.3(NF1):c.3572C>T (p.Thr1191Ile)
|
|
|
NM_001042492.3(NF1):c.3577T>A (p.Phe1193Ile)
|
rs2151435475
|
|
NM_001042492.3(NF1):c.3577T>G (p.Phe1193Val)
|
|
|
NM_001042492.3(NF1):c.3586C>G (p.Leu1196Val)
|
rs1555615039
|
|
NM_001042492.3(NF1):c.3589G>A (p.Ala1197Thr)
|
rs2151435523
|
|
NM_001042492.3(NF1):c.3590C>T (p.Ala1197Val)
|
rs370820478
|
|
NM_001042492.3(NF1):c.3595A>C (p.Thr1199Pro)
|
|
|
NM_001042492.3(NF1):c.3596C>G (p.Thr1199Arg)
|
rs1555615047
|
|
NM_001042492.3(NF1):c.3596C>T (p.Thr1199Ile)
|
rs1555615047
|
|
NM_001042492.3(NF1):c.3610C>G (p.Arg1204Gly)
|
rs199474732
|
|
NM_001042492.3(NF1):c.3623T>G (p.Leu1208Trp)
|
rs1060500374
|
|
NM_001042492.3(NF1):c.3641T>G (p.Met1214Arg)
|
rs1567851416
|
|
NM_001042492.3(NF1):c.3649G>A (p.Asp1217Asn)
|
|
|
NM_001042492.3(NF1):c.3650A>T (p.Asp1217Val)
|
|
|
NM_001042492.3(NF1):c.3651T>G (p.Asp1217Glu)
|
rs1135402846
|
|
NM_001042492.3(NF1):c.3676del (p.Ala1226fs)
|
|
|
NM_001042492.3(NF1):c.3695_3696delinsA (p.Pro1232fs)
|
|
|
NM_001042492.3(NF1):c.3706T>C (p.Trp1236Arg)
|
rs1555615111
|
|
NM_001042492.3(NF1):c.3708+1G>A
|
rs1420779915
|
|
NM_001042492.3(NF1):c.3708+2dup
|
|
|
NM_001042492.3(NF1):c.3708+3A>T
|
rs1555615114
|
|
NM_001042492.3(NF1):c.3708+5G>A
|
rs1597720280
|
|
NM_001042492.3(NF1):c.3709_3714del (p.Asp1237_Glu1238del)
|
rs2151437703
|
|
NM_001042492.3(NF1):c.3716T>G (p.Leu1239Arg)
|
rs1597722390
|
|
NM_001042492.3(NF1):c.3728T>C (p.Leu1243Pro)
|
rs137854564
|
|
NM_001042492.3(NF1):c.3728T>G (p.Leu1243Arg)
|
rs137854564
|
|
NM_001042492.3(NF1):c.3736_3737del (p.Leu1246fs)
|
rs2067186293
|
|
NM_001042492.3(NF1):c.3737T>C (p.Leu1246Pro)
|
rs2151437777
|
|
NM_001042492.3(NF1):c.3772T>A (p.Trp1258Arg)
|
|
|
NM_001042492.3(NF1):c.3772T>C (p.Trp1258Arg)
|
rs1597722508
|
|
NM_001042492.3(NF1):c.3787_3788insT (p.Lys1263fs)
|
rs1555615467
|
|
NM_001042492.3(NF1):c.3790G>A (p.Glu1264Lys)
|
rs863224660
|
|
NM_001042492.3(NF1):c.3791_3801del (p.Glu1264fs)
|
rs1555615469
|
|
NM_001042492.3(NF1):c.3796_3797del (p.Glu1266fs)
|
rs2151437911
|
|
NM_001042492.3(NF1):c.3818del (p.Thr1273fs)
|
rs2067188459
|
|
NM_001042492.3(NF1):c.3826C>G (p.Arg1276Gly)
|
rs199474742
|
|
NM_001042492.3(NF1):c.3826del (p.Arg1276fs)
|
rs2067188667
|
|
NM_001042492.3(NF1):c.3832A>T (p.Asn1278Tyr)
|
rs1306874240
|
|
NM_001042492.3(NF1):c.3833A>T (p.Asn1278Ile)
|
rs2067188951
|
|
NM_001042492.3(NF1):c.3834C>G (p.Asn1278Lys)
|
rs1135402850
|
|
NM_001042492.3(NF1):c.3849AAT[1] (p.Ile1284del)
|
|
|
NM_001042492.3(NF1):c.3864T>A (p.Cys1288Ter)
|
rs1555615495
|
|
NM_001042492.3(NF1):c.3870+1G>A
|
rs1131691075
|
|
NM_001042492.3(NF1):c.3870G>C (p.Lys1290Asn)
|
rs1555615497
|
|
NM_001042492.3(NF1):c.3892C>T (p.Gln1298Ter)
|
rs2067193761
|
|
NM_001042492.3(NF1):c.3911T>G (p.Leu1304Ter)
|
rs761512189
|
|
NM_001042492.3(NF1):c.3974+2T>C
|
rs1555615567
|
|
NM_001042492.3(NF1):c.3974G>C (p.Arg1325Thr)
|
rs863224447
|
|
NM_001042492.3(NF1):c.3975-11_3978del
|
|
|
NM_001042492.3(NF1):c.4018del (p.Leu1340fs)
|
rs2067448975
|
|
NM_001042492.3(NF1):c.4027A>C (p.Thr1343Pro)
|
rs2151451431
|
|
NM_001042492.3(NF1):c.4076_4077insA (p.Gln1360fs)
|
rs1555617364
|
|
NM_001042492.3(NF1):c.4099T>C (p.Cys1367Arg)
|
rs2151451647
|
|
NM_001042492.3(NF1):c.4099_4108dup (p.Gln1370fs)
|
rs2067451446
|
|
NM_001042492.3(NF1):c.4109_4110delinsCC (p.Gln1370Pro)
|
rs2151451687
|
|
NM_001042492.3(NF1):c.4110+1del
|
rs2151451697
|
|
NM_001042492.3(NF1):c.412G>C (p.Ala138Pro)
|
rs1597635936
|
|
NM_001042492.3(NF1):c.4174-2del
|
rs2151461734
|
|
NM_001042492.3(NF1):c.4183C>T (p.Gln1395Ter)
|
rs1555618494
|
|
NM_001042492.3(NF1):c.4185dup (p.Arg1396fs)
|
rs2067620305
|
|
NM_001042492.3(NF1):c.4208del (p.Gly1403fs)
|
rs2067621019
|
|
NM_001042492.3(NF1):c.4225dup (p.Met1409fs)
|
|
|
NM_001042492.3(NF1):c.4226T>G (p.Met1409Arg)
|
rs1555618508
|
|
NM_001042492.3(NF1):c.4231C>G (p.Leu1411Val)
|
rs199474789
|
|
NM_001042492.3(NF1):c.4231C>T (p.Leu1411Phe)
|
rs199474789
|
|
NM_001042492.3(NF1):c.4235G>A (p.Arg1412Lys)
|
|
|
NM_001042492.3(NF1):c.4235_4240del (p.Arg1412_Phe1413del)
|
rs2151461951
|
|
NM_001042492.3(NF1):c.4236A>C (p.Arg1412Ser)
|
rs137854554
|
|
NM_001042492.3(NF1):c.4236A>T (p.Arg1412Ser)
|
rs137854554
|
|
NM_001042492.3(NF1):c.4243A>G (p.Asn1415Asp)
|
rs1555618518
|
|
NM_001042492.3(NF1):c.4243A>T (p.Asn1415Tyr)
|
rs1555618518
|
|
NM_001042492.3(NF1):c.4252del (p.Ile1418fs)
|
rs1783539066
|
|
NM_001042492.3(NF1):c.4256T>A (p.Val1419Asp)
|
rs1555618528
|
|
NM_001042492.3(NF1):c.4285A>T (p.Lys1429Ter)
|
rs758915600
|
|
NM_001042492.3(NF1):c.430dup (p.Ser144fs)
|
|
|
NM_001042492.3(NF1):c.4316T>A (p.Leu1439Ter)
|
rs1567862071
|
|
NM_001042492.3(NF1):c.4321T>G (p.Leu1441Val)
|
|
|
NM_001042492.3(NF1):c.4330A>C (p.Lys1444Gln)
|
rs137854550
|
|
NM_001042492.3(NF1):c.4332+2T>C
|
rs786204207
|
|
NM_001042492.3(NF1):c.4332G>A (p.Lys1444=)
|
rs199474750
|
|
NM_001042492.3(NF1):c.4332G>C (p.Lys1444Asn)
|
rs199474750
|
|
NM_001042492.3(NF1):c.4339C>T (p.Gln1447Ter)
|
rs1135402857
|
|
NM_001042492.3(NF1):c.4340A>C (p.Gln1447Pro)
|
rs786204157
|
|
NM_001042492.3(NF1):c.4341G>C (p.Gln1447His)
|
rs876660206
|
|
NM_001042492.3(NF1):c.4344_4345insCCT (p.Ser1448_Ile1449insPro)
|
rs1597745583
|
|
NM_001042492.3(NF1):c.4348G>A (p.Ala1450Thr)
|
rs2151462979
|
|
NM_001042492.3(NF1):c.4367del (p.Thr1456fs)
|
rs2067637088
|
|
NM_001042492.3(NF1):c.4370A>G (p.Lys1457Arg)
|
rs1555618656
|
|
NM_001042492.3(NF1):c.4371A>T (p.Lys1457Asn)
|
rs1555618658
|
|
NM_001042492.3(NF1):c.4372GAA[1] (p.Glu1459del)
|
rs267606607
|
|
NM_001042492.3(NF1):c.4381A>G (p.Met1461Val)
|
rs1555618675
|
|
NM_001042492.3(NF1):c.4381A>T (p.Met1461Leu)
|
rs1555618675
|
|
NM_001042492.3(NF1):c.4382T>A (p.Met1461Lys)
|
rs754639587
|
|
NM_001042492.3(NF1):c.4382T>G (p.Met1461Arg)
|
rs754639587
|
|
NM_001042492.3(NF1):c.4383G>A (p.Met1461Ile)
|
rs1555618677
|
|
NM_001042492.3(NF1):c.4397_4423del (p.Asp1466_Ala1474del)
|
rs2151463132
|
|
NM_001042492.3(NF1):c.4403T>G (p.Val1468Gly)
|
rs1135402860
|
|
NM_001042492.3(NF1):c.4430+1G>C
|
rs773151680
|
|
NM_001042492.3(NF1):c.4430+2T>C
|
rs1555618693
|
|
NM_001042492.3(NF1):c.4431-9T>G
|
rs1597746884
|
|
NM_001042492.3(NF1):c.4489del (p.Ser1497fs)
|
rs2067664000
|
|
NM_001042492.3(NF1):c.4520del (p.Leu1507fs)
|
rs2151464729
|
|
NM_001042492.3(NF1):c.4532T>C (p.Leu1511Pro)
|
rs1135402864
|
|
NM_001042492.3(NF1):c.4532T>G (p.Leu1511Arg)
|
rs1135402864
|
|
NM_001042492.3(NF1):c.4544A>G (p.Gln1515Arg)
|
rs1135402865
|
|
NM_001042492.3(NF1):c.4556G>A (p.Gly1519Glu)
|
rs1567863004
|
|
NM_001042492.3(NF1):c.4577+2T>G
|
rs1597747184
|
|
NM_001042492.3(NF1):c.4578-20_4578-18del
|
rs1597748617
|
|
NM_001042492.3(NF1):c.4606T>G (p.Phe1536Val)
|
|
|
NM_001042492.3(NF1):c.4608_4611delinsC (p.Asp1537del)
|
rs2151466254
|
|
NM_001042492.3(NF1):c.4611_4612del (p.Asp1537fs)
|
|
|
NM_001042492.3(NF1):c.4619C>A (p.Ala1540Glu)
|
rs2151466279
|
|
NM_001042492.3(NF1):c.4619_4622delinsAA (p.Ala1540fs)
|
rs2067690116
|
|
NM_001042492.3(NF1):c.4634_4636del (p.Tyr1545del)
|
|
|
NM_001042492.3(NF1):c.4658del (p.Pro1553fs)
|
rs1555619029
|
|
NM_001042492.3(NF1):c.4669dup (p.Thr1557fs)
|
rs1555619033
|
|
NM_001042492.3(NF1):c.4720_4724del (p.Thr1574fs)
|
rs2067692232
|
|
NM_001042492.3(NF1):c.4725-15_4725-3del
|
rs2151469964
|
|
NM_001042492.3(NF1):c.4738G>T (p.Glu1580Ter)
|
rs2067764827
|
|
NM_001042492.3(NF1):c.4744_4745del (p.Glu1582fs)
|
rs1555619395
|
|
NM_001042492.3(NF1):c.4779C>A (p.Phe1593Leu)
|
rs2151470179
|
|
NM_001042492.3(NF1):c.4786G>C (p.Ala1596Pro)
|
rs2151470213
|
|
NM_001042492.3(NF1):c.479+1G>T
|
rs1555606137
|
|
NM_001042492.3(NF1):c.479+1_479+1356del
|
|
|
NM_001042492.3(NF1):c.479+5G>C
|
rs1567818033
|
|
NM_001042492.3(NF1):c.479+5G>T
|
rs1567818033
|
|
NM_001042492.3(NF1):c.480-5_482del
|
|
|
NM_001042492.3(NF1):c.480-8_480-2delinsTTTTAT
|
|
|
NM_001042492.3(NF1):c.4821T>A (p.Tyr1607Ter)
|
rs1555619416
|
|
NM_001042492.3(NF1):c.4829C>A (p.Ala1610Glu)
|
|
|
NM_001042492.3(NF1):c.4835+1G>T
|
rs1085307819
|
|
NM_001042492.3(NF1):c.4836-1G>A
|
rs1057518326
|
|
NM_001042492.3(NF1):c.4836-2A>G
|
|
|
NM_001042492.3(NF1):c.4836G>C (p.Arg1612Ser)
|
rs1555533268
|
|
NM_001042492.3(NF1):c.4868T>C (p.Leu1623Pro)
|
rs2151537585
|
|
NM_001042492.3(NF1):c.4880T>A (p.Val1627Asp)
|
rs1567611231
|
|
NM_001042492.3(NF1):c.4885del (p.Leu1628_Leu1629insTer)
|
rs2069326575
|
|
NM_001042492.3(NF1):c.4910del (p.Lys1637fs)
|
|
|
NM_001042492.3(NF1):c.4915T>G (p.Tyr1639Asp)
|
rs2151537742
|
|
NM_001042492.3(NF1):c.4930G>A (p.Asp1644Asn)
|
rs1131691123
|
|
NM_001042492.3(NF1):c.4930G>T (p.Asp1644Tyr)
|
rs1131691123
|
|
NM_001042492.3(NF1):c.4931A>T (p.Asp1644Val)
|
|
|
NM_001042492.3(NF1):c.4998del (p.Pro1667fs)
|
rs1135402867
|
|
NM_001042492.3(NF1):c.5032T>G (p.Tyr1678Asp)
|
|
|
NM_001042492.3(NF1):c.5033A>C (p.Tyr1678Ser)
|
rs1555533347
|
|
NM_001042492.3(NF1):c.5033A>G (p.Tyr1678Cys)
|
rs1555533347
|
|
NM_001042492.3(NF1):c.5035_5037del (p.Ile1679del)
|
rs2151538219
|
|
NM_001042492.3(NF1):c.5040dup (p.Asn1681Ter)
|
|
|
NM_001042492.3(NF1):c.5044T>C (p.Cys1682Arg)
|
rs1597829901
|
|
NM_001042492.3(NF1):c.5045_5046del (p.Asn1681_Cys1682insTer)
|
rs1597829906
|
|
NM_001042492.3(NF1):c.5059_5060del (p.Arg1687fs)
|
|
|
NM_001042492.3(NF1):c.5065dup (p.Tyr1689fs)
|
rs1555533359
|
|
NM_001042492.3(NF1):c.5072_5073delinsCCC (p.Lys1691fs)
|
rs1555533363
|
|
NM_001042492.3(NF1):c.5079del (p.His1693fs)
|
rs1597829969
|
|
NM_001042492.3(NF1):c.5118del (p.Val1707fs)
|
rs1597830046
|
|
NM_001042492.3(NF1):c.5129del (p.Asp1710fs)
|
rs2069334590
|
|
NM_001042492.3(NF1):c.5188A>C (p.Thr1730Pro)
|
|
|
NM_001042492.3(NF1):c.5236dup (p.Leu1746fs)
|
rs2069337884
|
|
NM_001042492.3(NF1):c.5268+2T>G
|
rs1555533416
|
|
NM_001042492.3(NF1):c.5268+5G>C
|
rs864622551
|
|
NM_001042492.3(NF1):c.5268+5G>T
|
|
|
NM_001042492.3(NF1):c.5269-14C>G
|
rs753463683
|
|
NM_001042492.3(NF1):c.5269-1G>C
|
rs876660141
|
|
NM_001042492.3(NF1):c.5269-38A>G
|
rs2151540615
|
|
NM_001042492.3(NF1):c.5269-8C>G
|
rs1597831805
|
|
NM_001042492.3(NF1):c.5285T>A (p.Val1762Asp)
|
rs1555533550
|
|
NM_001042492.3(NF1):c.5297C>G (p.Ser1766Ter)
|
rs1555533555
|
|
NM_001042492.3(NF1):c.530T>A (p.Ile177Lys)
|
|
|
NM_001042492.3(NF1):c.530T>G (p.Ile177Arg)
|
rs2143707493
|
|
NM_001042492.3(NF1):c.5311A>G (p.Lys1771Glu)
|
rs1131691103
|
|
NM_001042492.3(NF1):c.5329del (p.Val1777fs)
|
rs2069377259
|
|
NM_001042492.3(NF1):c.5357C>A (p.Ser1786Ter)
|
rs1555533569
|
|
NM_001042492.3(NF1):c.5374del (p.Cys1792fs)
|
rs2069378463
|
|
NM_001042492.3(NF1):c.5376C>A (p.Cys1792Ter)
|
rs1597832002
|
|
NM_001042492.3(NF1):c.5387del (p.Glu1796fs)
|
rs2069379168
|
|
NM_001042492.3(NF1):c.5398A>C (p.Thr1800Pro)
|
rs2151541217
|
|
NM_001042492.3(NF1):c.5410delinsTT (p.Ala1804fs)
|
|
|
NM_001042492.3(NF1):c.541_542del (p.Gln181fs)
|
rs1135402790
|
|
NM_001042492.3(NF1):c.5476C>G (p.His1826Asp)
|
rs1135402871
|
|
NM_001042492.3(NF1):c.5488C>G (p.Arg1830Gly)
|
rs797045139
|
|
NM_001042492.3(NF1):c.5489G>A (p.Arg1830His)
|
rs771529172
|
|
NM_001042492.3(NF1):c.5489G>T (p.Arg1830Leu)
|
rs771529172
|
|
NM_001042492.3(NF1):c.5521C>T (p.Gln1841Ter)
|
rs786203570
|
|
NM_001042492.3(NF1):c.5534T>C (p.Ile1845Thr)
|
rs1060500339
|
|
NM_001042492.3(NF1):c.5546A>G (p.Asp1849Gly)
|
|
|
NM_001042492.3(NF1):c.5548G>T (p.Val1850Phe)
|
rs1597832397
|
|
NM_001042492.3(NF1):c.5552C>T (p.Pro1851Leu)
|
rs1555533638
|
|
NM_001042492.3(NF1):c.5560_5562delinsT (p.Leu1854fs)
|
rs1555533641
|
|
NM_001042492.3(NF1):c.5561T>C (p.Leu1854Pro)
|
rs878853903
|
|
NM_001042492.3(NF1):c.5564T>G (p.Leu1855Arg)
|
rs2069385520
|
|
NM_001042492.3(NF1):c.556G>T (p.Asp186Tyr)
|
rs1567820765
|
|
NM_001042492.3(NF1):c.5571del (p.Ile1857fs)
|
rs1135402874
|
|
NM_001042492.3(NF1):c.557A>T (p.Asp186Val)
|
rs1567820771
|
|
NM_001042492.3(NF1):c.5583T>G (p.Asn1861Lys)
|
rs2151541871
|
|
NM_001042492.3(NF1):c.5606dup (p.Leu1869fs)
|
rs2069386536
|
|
NM_001042492.3(NF1):c.5609+5G>C
|
rs1597832498
|
|
NM_001042492.3(NF1):c.5609+5G>T
|
rs1597832498
|
|
NM_001042492.3(NF1):c.5609_5609+1delinsAA
|
rs2069386760
|
|
NM_001042492.3(NF1):c.5610-2A>T
|
rs1135402876
|
|
NM_001042492.3(NF1):c.5624A>G (p.Asn1875Ser)
|
rs1555533843
|
|
NM_001042492.3(NF1):c.5625TCT[1] (p.Leu1877del)
|
rs1131691081
|
|
NM_001042492.3(NF1):c.5629C>A (p.Leu1877Met)
|
|
|
NM_001042492.3(NF1):c.5651T>G (p.Phe1884Cys)
|
|
|
NM_001042492.3(NF1):c.5652T>G (p.Phe1884Leu)
|
rs1567613616
|
|
NM_001042492.3(NF1):c.5662del (p.Ile1888fs)
|
rs2069449497
|
|
NM_001042492.3(NF1):c.5663dup (p.Glu1889fs)
|
rs1555533856
|
|
NM_001042492.3(NF1):c.5668G>C (p.Gly1890Arg)
|
rs1597834706
|
|
NM_001042492.3(NF1):c.567del (p.Lys189fs)
|
rs2143708010
|
|
NM_001042492.3(NF1):c.5711A>G (p.Asn1904Ser)
|
rs864622647
|
|
NM_001042492.3(NF1):c.5731dup (p.Ile1911fs)
|
rs2069452094
|
|
NM_001042492.3(NF1):c.573del (p.Lys191fs)
|
rs2065904589
|
|
NM_001042492.3(NF1):c.5744T>C (p.Leu1915Pro)
|
rs1555533875
|
|
NM_001042492.3(NF1):c.5767A>T (p.Thr1923Ser)
|
rs2151544901
|
|
NM_001042492.3(NF1):c.5768C>G (p.Thr1923Arg)
|
rs786203824
|
|
NM_001042492.3(NF1):c.5780del (p.Leu1927fs)
|
rs1135402880
|
|
NM_001042492.3(NF1):c.5786_5787del (p.Glu1929fs)
|
rs1555533882
|
|
NM_001042492.3(NF1):c.5787G>T (p.Glu1929Asp)
|
rs786202591
|
|
NM_001042492.3(NF1):c.5788T>C (p.Cys1930Arg)
|
rs2069454402
|
|
NM_001042492.3(NF1):c.5792_5812+7del
|
|
|
NM_001042492.3(NF1):c.579_581del (p.Leu194del)
|
rs2143708173
|
|
NM_001042492.3(NF1):c.5812+1G>T
|
rs876658854
|
|
NM_001042492.3(NF1):c.5812+1del
|
rs2151545014
|
|
NM_001042492.3(NF1):c.5812+2_5812+3insTA
|
rs2069454921
|
|
NM_001042492.3(NF1):c.5812+2dup
|
rs1597834973
|
|
NM_001042492.3(NF1):c.5812+4A>C
|
rs1597834988
|
|
NM_001042492.3(NF1):c.5813-177A>C
|
|
|
NM_001042492.3(NF1):c.5813-1G>A
|
rs1057518974
|
|
NM_001042492.3(NF1):c.5836T>A (p.Leu1946Met)
|
rs1422333640
|
|
NM_001042492.3(NF1):c.5847del (p.Met1949fs)
|
rs1597840055
|
|
NM_001042492.3(NF1):c.5852dup (p.Trp1952fs)
|
rs2069602426
|
|
NM_001042492.3(NF1):c.5854T>C (p.Trp1952Arg)
|
rs199474791
|
|
NM_001042492.3(NF1):c.5857C>G (p.Leu1953Val)
|
|
|
NM_001042492.3(NF1):c.586+2T>C
|
rs1135402791
|
|
NM_001042492.3(NF1):c.587-2A>G
|
rs1057518360
|
|
NM_001042492.3(NF1):c.590C>G (p.Thr197Arg)
|
rs1597658021
|
|
NM_001042492.3(NF1):c.5924T>C (p.Leu1975Pro)
|
rs1555534411
|
|
NM_001042492.3(NF1):c.5933T>C (p.Leu1978Pro)
|
rs2069606635
|
|
NM_001042492.3(NF1):c.5933T>G (p.Leu1978Arg)
|
rs2069606635
|
|
NM_001042492.3(NF1):c.5991G>A (p.Trp1997Ter)
|
rs876660696
|
|
NM_001042492.3(NF1):c.6001G>A (p.Gly2001Arg)
|
rs199474751
|
|
NM_001042492.3(NF1):c.6006G>C (p.Gln2002His)
|
rs1555534432
|
|
NM_001042492.3(NF1):c.6007-1G>A
|
rs1555534596
|
|
NM_001042492.3(NF1):c.6022G>C (p.Asp2008His)
|
rs786201924
|
|
NM_001042492.3(NF1):c.6023A>C (p.Asp2008Ala)
|
rs2069668717
|
|
NM_001042492.3(NF1):c.6052A>C (p.Ser2018Arg)
|
rs2151553286
|
|
NM_001042492.3(NF1):c.6053G>T (p.Ser2018Ile)
|
|
|
NM_001042492.3(NF1):c.610dup (p.Leu204fs)
|
rs1135402793
|
|
NM_001042492.3(NF1):c.6118T>C (p.Ser2040Pro)
|
rs1567616704
|
|
NM_001042492.3(NF1):c.6119C>T (p.Ser2040Phe)
|
rs2069671270
|
|
NM_001042492.3(NF1):c.6147+1G>C
|
rs1060500296
|
|
NM_001042492.3(NF1):c.6147+2T>C
|
rs1555534621
|
|
NM_001042492.3(NF1):c.6147G>C (p.Lys2049Asn)
|
rs1135402882
|
|
NM_001042492.3(NF1):c.6148-1G>C
|
rs1555534661
|
|
NM_001042492.3(NF1):c.6148-2A>G
|
rs2069681259
|
|
NM_001042492.3(NF1):c.6221del (p.Met2074fs)
|
rs2069683635
|
|
NM_001042492.3(NF1):c.6227_6228dup (p.Asp2077fs)
|
rs1555534680
|
|
NM_001042492.3(NF1):c.6252C>A (p.Tyr2084Ter)
|
rs2069684411
|
|
NM_001042492.3(NF1):c.6296dup (p.His2099fs)
|
|
|
NM_001042492.3(NF1):c.6304dup (p.Tyr2102fs)
|
rs1555534712
|
|
NM_001042492.3(NF1):c.6314A>C (p.His2105Pro)
|
rs1555534726
|
|
NM_001042492.3(NF1):c.6355A>T (p.Arg2119Ter)
|
rs2151554939
|
|
NM_001042492.3(NF1):c.6374T>G (p.Leu2125Arg)
|
rs1597843129
|
|
NM_001042492.3(NF1):c.6398T>G (p.Leu2133Arg)
|
rs2069690617
|
|
NM_001042492.3(NF1):c.6401_6402del (p.Cys2134fs)
|
rs1597843186
|
|
NM_001042492.3(NF1):c.6428-1_6428del
|
|
|
NM_001042492.3(NF1):c.6428-1del
|
|
|
NM_001042492.3(NF1):c.6428-2A>C
|
rs1060500312
|
|
NM_001042492.3(NF1):c.6428-3C>A
|
rs374014162
|
|
NM_001042492.3(NF1):c.6428-3C>G
|
rs374014162
|
|
NM_001042492.3(NF1):c.6462dup (p.Glu2155fs)
|
rs1135402888
|
|
NM_001042492.3(NF1):c.6507_6921+170del
|
|
|
NM_001042492.3(NF1):c.655-2A>C
|
rs1555608734
|
|
NM_001042492.3(NF1):c.6600del (p.Ser2201fs)
|
rs1135402892
|
|
NM_001042492.3(NF1):c.6617C>G (p.Thr2206Arg)
|
|
|
NM_001042492.3(NF1):c.6642+18A>G
|
rs1555534893
|
|
NM_001042492.3(NF1):c.6645del (p.Cys2216fs)
|
rs1555534913
|
|
NM_001042492.3(NF1):c.6669C>A (p.Cys2223Ter)
|
rs1555534918
|
|
NM_001042492.3(NF1):c.6671del (p.Lys2224fs)
|
rs1555534919
|
|
NM_001042492.3(NF1):c.6675G>A (p.Trp2225Ter)
|
rs2069717916
|
|
NM_001042492.3(NF1):c.667T>C (p.Trp223Arg)
|
rs1555608740
|
|
NM_001042492.3(NF1):c.6685T>C (p.Trp2229Arg)
|
rs1060500342
|
|
NM_001042492.3(NF1):c.6685T>G (p.Trp2229Gly)
|
rs1060500342
|
|
NM_001042492.3(NF1):c.6705-17G>A
|
rs1064795966
|
|
NM_001042492.3(NF1):c.6705-1G>A
|
rs1060500356
|
|
NM_001042492.3(NF1):c.6705-1del
|
|
|
NM_001042492.3(NF1):c.6705-3C>A
|
rs1131691079
|
|
NM_001042492.3(NF1):c.6780_6791delinsATGAGAC (p.His2261_Ile2264delinsTer)
|
rs1555534952
|
|
NM_001042492.3(NF1):c.6810del (p.Ser2272fs)
|
rs1135402893
|
|
NM_001042492.3(NF1):c.6818A>C (p.Lys2273Thr)
|
|
|
NM_001042492.3(NF1):c.6819+2T>C
|
rs1135402894
|
|
NM_001042492.3(NF1):c.6819G>A (p.Lys2273=)
|
rs1060500373
|
|
NM_001042492.3(NF1):c.6819G>T (p.Lys2273Asn)
|
rs1060500373
|
|
NM_001042492.3(NF1):c.6820-3A>G
|
|
|
NM_001042492.3(NF1):c.6829_6830del (p.Ser2277fs)
|
rs2069742524
|
|
NM_001042492.3(NF1):c.6833dup (p.Cys2278fs)
|
rs1555535027
|
|
NM_001042492.3(NF1):c.6845C>T (p.Pro2282Leu)
|
rs2069743547
|
|
NM_001042492.3(NF1):c.6855dup (p.Asn2286fs)
|
rs1555535041
|
|
NM_001042492.3(NF1):c.6880_6906del (p.Thr2294_Gln2302del)
|
rs2151559288
|
|
NM_001042492.3(NF1):c.68del (p.Ile23fs)
|
rs1057518884
|
|
NM_001042492.3(NF1):c.6905_6921+8del
|
|
|
NM_001042492.3(NF1):c.6921+1G>A
|
rs1060500355
|
|
NM_001042492.3(NF1):c.6921+2T>A
|
rs1555535053
|
|
NM_001042492.3(NF1):c.6921+3A>G
|
rs1085307885
|
|
NM_001042492.3(NF1):c.6921+4A>G
|
rs752841251
|
|
NM_001042492.3(NF1):c.6921G>A (p.Lys2307=)
|
rs1057523533
|
|
NM_001042492.3(NF1):c.6921G>C (p.Lys2307Asn)
|
rs1057523533
|
|
NM_001042492.3(NF1):c.6939del (p.Ala2314fs)
|
rs2069790028
|
|
NM_001042492.3(NF1):c.6944T>G (p.Leu2315Arg)
|
rs2151561538
|
|
NM_001042492.3(NF1):c.6949T>C (p.Trp2317Arg)
|
|
|
NM_001042492.3(NF1):c.6952_6955del (p.Val2318fs)
|
rs1555535163
|
|
NM_001042492.3(NF1):c.6979_6980insTA (p.Glu2327fs)
|
rs1555535171
|
|
NM_001042492.3(NF1):c.6994_6995delinsATTT (p.Ser2332fs)
|
rs2069792273
|
|
NM_001042492.3(NF1):c.7000G>A (p.Gly2334Ser)
|
rs1597848100
|
|
NM_001042492.3(NF1):c.7000G>C (p.Gly2334Arg)
|
rs1597848100
|
|
NM_001042492.3(NF1):c.7001G>A (p.Gly2334Asp)
|
rs2151561783
|
|
NM_001042492.3(NF1):c.7010T>G (p.Leu2337Arg)
|
rs1555535179
|
|
NM_001042492.3(NF1):c.7013T>G (p.Leu2338Arg)
|
rs2151561836
|
|
NM_001042492.3(NF1):c.7025T>G (p.Leu2342Arg)
|
rs2151561874
|
|
NM_001042492.3(NF1):c.7062+2T>C
|
rs1135402898
|
|
NM_001042492.3(NF1):c.7062+2del
|
rs2069795581
|
|
NM_001042492.3(NF1):c.7063-10_7066del
|
|
|
NM_001042492.3(NF1):c.7063-7_7063-2del
|
|
|
NM_001042492.3(NF1):c.7115del (p.Lys2372fs)
|
rs2151565074
|
|
NM_001042492.3(NF1):c.7151_7152insG (p.Ser2384_Asn2385insTer)
|
|
|
NM_001042492.3(NF1):c.7153AACTTT[1] (p.2385NF[1])
|
rs864622639
|
|
NM_001042492.3(NF1):c.7156T>A (p.Phe2386Ile)
|
|
|
NM_001042492.3(NF1):c.7169_7178delinsCAGC (p.Leu2390_His2393delinsSerAla)
|
rs1555535448
|
|
NM_001042492.3(NF1):c.7172T>A (p.Val2391Asp)
|
rs2069869918
|
|
NM_001042492.3(NF1):c.7175del (p.Gly2392fs)
|
rs2069870034
|
|
NM_001042492.3(NF1):c.7181T>G (p.Leu2394Arg)
|
rs1135402899
|
|
NM_001042492.3(NF1):c.7189+2_7189+6del
|
|
|
NM_001042492.3(NF1):c.7189G>A (p.Gly2397Arg)
|
rs1135402900
|
|
NM_001042492.3(NF1):c.7226C>G (p.Thr2409Arg)
|
|
|
NM_001042492.3(NF1):c.723_730+4del
|
|
|
NM_001042492.3(NF1):c.7278_7279del (p.Cys2426_Asp2427delinsTer)
|
rs2070076932
|
|
NM_001042492.3(NF1):c.730+1G>T
|
rs1060500274
|
|
NM_001042492.3(NF1):c.730+2T>C
|
|
|
NM_001042492.3(NF1):c.7317AGC[1] (p.Ala2441del)
|
rs1085307506
|
|
NM_001042492.3(NF1):c.7321+1G>T
|
rs1135402903
|
|
NM_001042492.3(NF1):c.7321+2T>C
|
rs2070079311
|
|
NM_001042492.3(NF1):c.7322-1G>A
|
rs2070102904
|
|
NM_001042492.3(NF1):c.7322-1G>C
|
rs2070102904
|
|
NM_001042492.3(NF1):c.7322-2A>T
|
|
|
NM_001042492.3(NF1):c.737C>A (p.Ala246Glu)
|
rs2066155612
|
|
NM_001042492.3(NF1):c.7456_7457+7del
|
rs2070109067
|
|
NM_001042492.3(NF1):c.7457+1G>A
|
rs2151574698
|
|
NM_001042492.3(NF1):c.7457+1G>T
|
rs2151574698
|
|
NM_001042492.3(NF1):c.7457+2T>G
|
rs2151574701
|
|
NM_001042492.3(NF1):c.7458-17T>G
|
rs766585105
|
|
NM_001042492.3(NF1):c.7458-7_7459delinsT
|
rs1555536334
|
|
NM_001042492.3(NF1):c.7509C>A (p.Tyr2503Ter)
|
rs1555536359
|
|
NM_001042492.3(NF1):c.7537C>T (p.Gln2513Ter)
|
rs2070170274
|
|
NM_001042492.3(NF1):c.755TGG[1] (p.Val253del)
|
rs1060500323
|
|
NM_001042492.3(NF1):c.7581del (p.Gln2528fs)
|
rs878853917
|
|
NM_001042492.3(NF1):c.7615+1del
|
rs1355691590
|
|
NM_001042492.3(NF1):c.7616-1G>A
|
|
|
NM_001042492.3(NF1):c.764del (p.Gly255fs)
|
|
|
NM_001042492.3(NF1):c.7744C>T (p.Gln2582Ter)
|
|
|
NM_001042492.3(NF1):c.7753del (p.Ser2585fs)
|
rs1555536685
|
|
NM_001042492.3(NF1):c.7787_7793del (p.Val2596fs)
|
rs2151582306
|
|
NM_001042492.3(NF1):c.7838dup (p.Lys2614fs)
|
rs1131691129
|
|
NM_001042492.3(NF1):c.7846C>T (p.Gln2616Ter)
|
rs1555536713
|
|
NM_001042492.3(NF1):c.787A>G (p.Lys263Glu)
|
rs1597659883
|
|
NM_001042492.3(NF1):c.7909C>T (p.Arg2637Ter)
|
rs786201367
|
|
NM_001042492.3(NF1):c.7920T>G (p.Tyr2640Ter)
|
rs1060500333
|
|
NM_001042492.3(NF1):c.7947_7948del (p.Phe2650fs)
|
rs2070298589
|
|
NM_001042492.3(NF1):c.7968_7970+2del
|
rs2070299730
|
|
NM_001042492.3(NF1):c.7970+2dup
|
rs1597867039
|
|
NM_001042492.3(NF1):c.7970+3A>T
|
|
|
NM_001042492.3(NF1):c.7970+4_7970+7del
|
rs1064794279
|
|
NM_001042492.3(NF1):c.7970+5G>A
|
rs1567627286
|
|
NM_001042492.3(NF1):c.7970+5G>C
|
rs1567627286
|
|
NM_001042492.3(NF1):c.7970+5G>T
|
rs1567627286
|
|
NM_001042492.3(NF1):c.7970+6T>C
|
rs1555536775
|
|
NM_001042492.3(NF1):c.7972C>T (p.His2658Tyr)
|
rs1555536868
|
|
NM_001042492.3(NF1):c.808C>T (p.Gln270Ter)
|
rs1555608970
|
|
NM_001042492.3(NF1):c.809A>C (p.Gln270Pro)
|
|
|
NM_001042492.3(NF1):c.8142del (p.Phe2714fs)
|
rs2070340004
|
|
NM_001042492.3(NF1):c.8159del (p.Lys2720fs)
|
rs1555537029
|
|
NM_001042492.3(NF1):c.8160+1G>A
|
rs1555537032
|
|
NM_001042492.3(NF1):c.817del (p.Leu273fs)
|
rs1555608972
|
|
NM_001042492.3(NF1):c.818T>G (p.Leu273Arg)
|
|
|
NM_001042492.3(NF1):c.819_821del (p.Leu274del)
|
rs2143786045
|
|
NM_001042492.3(NF1):c.8210C>A (p.Ala2737Asp)
|
rs1264511763
|
|
NM_001042492.3(NF1):c.821T>G (p.Leu274Arg)
|
rs2066157974
|
|
NM_001042492.3(NF1):c.853del (p.Ser285fs)
|
|
|
NM_001042492.3(NF1):c.862del (p.Val288fs)
|
rs1135402797
|
|
NM_001042492.3(NF1):c.888+1G>C
|
rs1135402799
|
|
NM_001042492.3(NF1):c.888+2_888+5del
|
|
|
NM_001042492.3(NF1):c.889-1G>A
|
rs587781517
|
|
NM_001042492.3(NF1):c.897del (p.Leu300fs)
|
|
|
NM_001042492.3(NF1):c.959C>A (p.Ala320Asp)
|
rs1555610884
|
|
NM_001042492.3(NF1):c.968C>A (p.Ala323Asp)
|
rs2066507556
|
|
NM_001042492.3(NF1):c.970T>C (p.Cys324Arg)
|
rs199474735
|
|
NM_001042492.3(NF1):c.971G>A (p.Cys324Tyr)
|
rs778890596
|
|
NM_001042492.3(NF1):c.988del (p.Ala330fs)
|
rs1555610896
|
|
NM_001042492.3(NF1):c.989C>T (p.Ala330Val)
|
rs1555610898
|
|
NM_001042492.3:c.7317AGC[1]
|
|
|