NM_001042492.3(NF1):c.1466A>G (p.Tyr489Cys)
|
rs137854557
|
0.00001
|
NM_001042492.3(NF1):c.1541_1542del (p.Gln514fs)
|
rs267606600
|
0.00001
|
NM_001042492.3(NF1):c.2041C>T (p.Arg681Ter)
|
rs768638173
|
0.00001
|
NM_001042492.3(NF1):c.3827G>A (p.Arg1276Gln)
|
rs137854556
|
0.00001
|
NM_001042492.3(NF1):c.4600C>T (p.Arg1534Ter)
|
rs760703505
|
0.00001
|
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys)
|
rs797045139
|
0.00001
|
NM_001042492.3(NF1):c.6855C>G (p.Tyr2285Ter)
|
rs772295894
|
0.00001
|
NM_000267.3(NF1):c.6791dup (p.Tyr2264Ter)
|
rs876657715
|
|
NM_001042492.3(NF1):c.1009G>T (p.Glu337Ter)
|
rs747241884
|
|
NM_001042492.3(NF1):c.1094C>G (p.Ser365Ter)
|
rs864622107
|
|
NM_001042492.3(NF1):c.1174C>T (p.Gln392Ter)
|
rs1597682137
|
|
NM_001042492.3(NF1):c.1178del (p.His393fs)
|
rs1555611037
|
|
NM_001042492.3(NF1):c.1185+2T>G
|
rs1555611043
|
|
NM_001042492.3(NF1):c.1246C>T (p.Arg416Ter)
|
rs764079291
|
|
NM_001042492.3(NF1):c.1381C>T (p.Arg461Ter)
|
rs878853865
|
|
NM_001042492.3(NF1):c.1467T>A (p.Tyr489Ter)
|
rs1567841799
|
|
NM_001042492.3(NF1):c.1532del (p.Pro511fs)
|
rs1597703352
|
|
NM_001042492.3(NF1):c.1660C>T (p.Gln554Ter)
|
rs953440640
|
|
NM_001042492.3(NF1):c.1672del (p.Ile558fs)
|
rs1567845057
|
|
NM_001042492.3(NF1):c.1783_1784del (p.Glu595fs)
|
rs786204059
|
|
NM_001042492.3(NF1):c.1882del (p.Tyr628fs)
|
|
|
NM_001042492.3(NF1):c.1885G>A (p.Gly629Arg)
|
rs199474738
|
|
NM_001042492.3(NF1):c.2033dup (p.Ile679fs)
|
rs587781807
|
|
NM_001042492.3(NF1):c.204+1G>A
|
rs886039548
|
|
NM_001042492.3(NF1):c.2077_2078del (p.Met693fs)
|
rs1555613795
|
|
NM_001042492.3(NF1):c.2251+2T>C
|
|
|
NM_001042492.3(NF1):c.2325+1G>A
|
rs1555613933
|
|
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.2407C>T (p.Gln803Ter)
|
rs1567848213
|
|
NM_001042492.3(NF1):c.2553C>A (p.Cys851Ter)
|
rs2230852
|
|
NM_001042492.3(NF1):c.2674del (p.Ser892fs)
|
rs1555614296
|
|
NM_001042492.3(NF1):c.2815_2816insG (p.Asn939fs)
|
rs2151429753
|
|
NM_001042492.3(NF1):c.2842C>T (p.Gln948Ter)
|
rs1567849237
|
|
NM_001042492.3(NF1):c.2848C>T (p.Gln950Ter)
|
rs1060500357
|
|
NM_001042492.3(NF1):c.2970_2972del (p.Met992del)
|
rs267606606
|
|
NM_001042492.3(NF1):c.2991-1G>A
|
rs1060500273
|
|
NM_001042492.3(NF1):c.3076A>T (p.Arg1026Ter)
|
rs1555614529
|
|
NM_001042492.3(NF1):c.334C>T (p.Gln112Ter)
|
rs1555606061
|
|
NM_001042492.3(NF1):c.338del (p.Leu113fs)
|
rs1597635740
|
|
NM_001042492.3(NF1):c.3447G>T (p.Met1149Ile)
|
rs1064794277
|
|
NM_001042492.3(NF1):c.3537del (p.Phe1179fs)
|
rs1555615026
|
|
NM_001042492.3(NF1):c.3665del (p.Pro1222fs)
|
rs867391752
|
|
NM_001042492.3(NF1):c.3721C>T (p.Arg1241Ter)
|
rs137854562
|
|
NM_001042492.3(NF1):c.3757_3797del (p.Leu1253fs)
|
rs1555615447
|
|
NM_001042492.3(NF1):c.3790G>T (p.Glu1264Ter)
|
rs863224660
|
|
NM_001042492.3(NF1):c.3850del (p.Lys1283_Ile1284insTer)
|
|
|
NM_001042492.3(NF1):c.3974+1G>A
|
rs1567852849
|
|
NM_001042492.3(NF1):c.4015_4028del (p.Asn1338_Leu1339insTer)
|
rs1597735056
|
|
NM_001042492.3(NF1):c.4021C>T (p.Gln1341Ter)
|
rs137854559
|
|
NM_001042492.3(NF1):c.4078C>T (p.Gln1360Ter)
|
rs1555617368
|
|
NM_001042492.3(NF1):c.4084C>T (p.Arg1362Ter)
|
rs137854560
|
|
NM_001042492.3(NF1):c.4195C>T (p.Gln1399Ter)
|
rs1131691072
|
|
NM_001042492.3(NF1):c.4299dup (p.Arg1434Ter)
|
|
|
NM_001042492.3(NF1):c.4577+1G>A
|
rs1279529138
|
|
NM_001042492.3(NF1):c.4669del (p.Thr1557fs)
|
rs1597748891
|
|
NM_001042492.3(NF1):c.4700C>G (p.Ser1567Ter)
|
rs1555619051
|
|
NM_001042492.3(NF1):c.4892T>G (p.Leu1631Ter)
|
rs1555533292
|
|
NM_001042492.3(NF1):c.5305C>T (p.Arg1769Ter)
|
rs876657714
|
|
NM_001042492.3(NF1):c.5333_5334del (p.Phe1778fs)
|
rs1555533566
|
|
NM_001042492.3(NF1):c.551del (p.Asn184fs)
|
rs1555607102
|
|
NM_001042492.3(NF1):c.5765_5766del (p.Leu1922fs)
|
rs1555533880
|
|
NM_001042492.3(NF1):c.5780del (p.Leu1927fs)
|
rs1135402880
|
|
NM_001042492.3(NF1):c.5855G>A (p.Trp1952Ter)
|
rs1567615766
|
|
NM_001042492.3(NF1):c.587-2A>G
|
rs1057518360
|
|
NM_001042492.3(NF1):c.5938del (p.Thr1980fs)
|
rs1567615852
|
|
NM_001042492.3(NF1):c.6246del (p.Arg2083fs)
|
rs1597842843
|
|
NM_001042492.3(NF1):c.6373_6376del (p.Leu2125fs)
|
rs1555534755
|
|
NM_001042492.3(NF1):c.6428-2A>G
|
rs1060500312
|
|
NM_001042492.3(NF1):c.654+1G>A
|
rs1060500245
|
|
NM_001042492.3(NF1):c.6583_6586del (p.Glu2195fs)
|
rs1131691084
|
|
NM_001042492.3(NF1):c.662G>A (p.Trp221Ter)
|
rs1131691126
|
|
NM_001042492.3(NF1):c.668G>A (p.Trp223Ter)
|
rs1567826110
|
|
NM_001042492.3(NF1):c.6852_6855del (p.Tyr2285fs)
|
rs1555535032
|
|
NM_001042492.3(NF1):c.6855C>A (p.Tyr2285Ter)
|
rs772295894
|
|
NM_001042492.3(NF1):c.7015G>T (p.Glu2339Ter)
|
rs1060500359
|
|
NM_001042492.3(NF1):c.7040del (p.Ser2347fs)
|
rs1597848220
|
|
NM_001042492.3(NF1):c.7117C>T (p.Gln2373Ter)
|
rs1555535417
|
|
NM_001042492.3(NF1):c.7255_7256del (p.Leu2419fs)
|
rs1597858459
|
|
NM_001042492.3(NF1):c.7288G>T (p.Glu2430Ter)
|
rs1555536035
|
|
NM_001042492.3(NF1):c.731-1G>A
|
rs1555608928
|
|
NM_001042492.3(NF1):c.731-1_731del
|
rs1555608925
|
|
NM_001042492.3(NF1):c.7348C>T (p.Arg2450Ter)
|
rs786202457
|
|
NM_001042492.3(NF1):c.7474C>T (p.Gln2492Ter)
|
rs1555536340
|
|
NM_001042492.3(NF1):c.7549C>T (p.Arg2517Ter)
|
rs866445127
|
|
NM_001042492.3(NF1):c.7682C>G (p.Ser2561Ter)
|
rs2070274228
|
|
NM_001042492.3(NF1):c.7762C>T (p.Gln2588Ter)
|
rs1555536687
|
|
NM_001042492.3(NF1):c.7964del (p.Pro2655fs)
|
rs1567627268
|
|
NM_001042492.3(NF1):c.7970+1G>A
|
rs1555536773
|
|
NM_001042492.3(NF1):c.801G>A (p.Trp267Ter)
|
rs1064794273
|
|
NM_001042492.3(NF1):c.889-2A>G
|
rs878853922
|
|
NM_001042492.3(NF1):c.910C>T (p.Arg304Ter)
|
rs786203950
|
|
NM_001042492.3(NF1):c.983_984del (p.Leu327_Cys328insTer)
|
rs1555610893
|
|