NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu)
|
rs137854550
|
0.00002
|
NM_001042492.3(NF1):c.1260+1G>A
|
rs267606603
|
0.00001
|
NM_001042492.3(NF1):c.1318C>T (p.Arg440Ter)
|
rs778405030
|
0.00001
|
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.1721+1G>A
|
rs1131691096
|
0.00001
|
NM_001042492.3(NF1):c.2041C>T (p.Arg681Ter)
|
rs768638173
|
0.00001
|
NM_001042492.3(NF1):c.2350T>C (p.Trp784Arg)
|
rs199474730
|
0.00001
|
NM_001042492.3(NF1):c.2510G>A (p.Trp837Ter)
|
rs1348129244
|
0.00001
|
NM_001042492.3(NF1):c.3610C>T (p.Arg1204Trp)
|
rs199474732
|
0.00001
|
NM_001042492.3(NF1):c.3709-2A>G
|
rs1597722374
|
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.574C>T (p.Arg192Ter)
|
rs397514641
|
0.00001
|
NM_001042492.3(NF1):c.5812+332A>G
|
rs863224491
|
0.00001
|
NM_001042492.3(NF1):c.6674G>A (p.Trp2225Ter)
|
rs1193716348
|
0.00001
|
NM_001042492.3(NF1):c.6704+1G>T
|
rs1060500376
|
0.00001
|
NM_001042492.3(NF1):c.6855C>G (p.Tyr2285Ter)
|
rs772295894
|
0.00001
|
GRCh37/hg19 17q11.2(chr17:29422328-29422387)x1
|
|
|
GRCh37/hg19 17q11.2(chr17:29490394-29509683)x3
|
|
|
GRCh37/hg19 17q11.2(chr17:29679275-29679432)x1
|
|
|
NM_000267.3(NF1):c.206_207delGA
|
rs1060500321
|
|
NM_000267.3(NF1):c.5206delG
|
rs1555533549
|
|
NM_000267.3(NF1):c.6085del
|
|
|
NM_000267.3(NF1):c.6791dup (p.Tyr2264Ter)
|
rs876657715
|
|
NM_001042492.3(NF1):c.1008G>A (p.Trp336Ter)
|
rs2143873786
|
|
NM_001042492.3(NF1):c.1019_1020del (p.Ser340fs)
|
rs1555610903
|
|
NM_001042492.3(NF1):c.1020dup (p.Val341fs)
|
rs1555610905
|
|
NM_001042492.3(NF1):c.1021_1022del (p.Val341fs)
|
rs2066509100
|
|
NM_001042492.3(NF1):c.1023dup (p.Ile342fs)
|
rs2143874110
|
|
NM_001042492.3(NF1):c.1039C>T (p.Gln347Ter)
|
rs1555610910
|
|
NM_001042492.3(NF1):c.1062G>C (p.Lys354Asn)
|
rs1131691118
|
|
NM_001042492.3(NF1):c.1063-1G>A
|
rs1555610955
|
|
NM_001042492.3(NF1):c.1063-1G>C
|
rs1555610955
|
|
NM_001042492.3(NF1):c.1063-2A>C
|
|
|
NM_001042492.3(NF1):c.1063-2A>G
|
rs1060500358
|
|
NM_001042492.3(NF1):c.1079dup (p.Ser361fs)
|
rs2143878590
|
|
NM_001042492.3(NF1):c.1091del (p.Phe364fs)
|
rs2066519253
|
|
NM_001042492.3(NF1):c.1094C>G (p.Ser365Ter)
|
rs864622107
|
|
NM_001042492.3(NF1):c.1105C>T (p.Gln369Ter)
|
|
|
NM_001042492.3(NF1):c.1174C>T (p.Gln392Ter)
|
rs1597682137
|
|
NM_001042492.3(NF1):c.1182dup (p.Lys395Ter)
|
rs1597682159
|
|
NM_001042492.3(NF1):c.1185+1G>A
|
rs864622161
|
|
NM_001042492.3(NF1):c.1186-2A>G
|
rs1373365576
|
|
NM_001042492.3(NF1):c.1198C>T (p.Gln400Ter)
|
rs1597682751
|
|
NM_001042492.3(NF1):c.121G>T (p.Glu41Ter)
|
rs1567814497
|
|
NM_001042492.3(NF1):c.1238C>G (p.Ser413Ter)
|
rs1241533665
|
|
NM_001042492.3(NF1):c.1243dup (p.His415fs)
|
rs1085307728
|
|
NM_001042492.3(NF1):c.1246C>T (p.Arg416Ter)
|
rs764079291
|
|
NM_001042492.3(NF1):c.1260+1604A>G
|
rs1131691067
|
|
NM_001042492.3(NF1):c.1260+1G>C
|
rs267606603
|
|
NM_001042492.3(NF1):c.1260+2T>G
|
rs1555611110
|
|
NM_001042492.3(NF1):c.1261-1G>T
|
rs2066618707
|
|
NM_001042492.3(NF1):c.1261-2A>G
|
rs2066618684
|
|
NM_001042492.3(NF1):c.1278G>A (p.Trp426Ter)
|
rs1131691085
|
|
NM_001042492.3(NF1):c.1299T>G (p.Tyr433Ter)
|
rs876660099
|
|
NM_001042492.3(NF1):c.1362_1364del (p.Cys454_Gly455delinsTer)
|
rs2143915068
|
|
NM_001042492.3(NF1):c.1373del (p.Pro458fs)
|
rs2143915236
|
|
NM_001042492.3(NF1):c.1381C>T (p.Arg461Ter)
|
rs878853865
|
|
NM_001042492.3(NF1):c.1393-1G>A
|
rs1131691131
|
|
NM_001042492.3(NF1):c.1393-2A>G
|
rs1555612266
|
|
NM_001042492.3(NF1):c.1399dup (p.Thr467fs)
|
rs778963145
|
|
NM_001042492.3(NF1):c.1400del (p.Thr467fs)
|
rs1135402808
|
|
NM_001042492.3(NF1):c.1438A>T (p.Lys480Ter)
|
rs2143959211
|
|
NM_001042492.3(NF1):c.1440del (p.Lys480fs)
|
rs2066786100
|
|
NM_001042492.3(NF1):c.1453G>T (p.Glu485Ter)
|
rs1131691610
|
|
NM_001042492.3(NF1):c.1467T>A (p.Tyr489Ter)
|
rs1567841799
|
|
NM_001042492.3(NF1):c.1467T>G (p.Tyr489Ter)
|
|
|
NM_001042492.3(NF1):c.1467dup (p.Lys490Ter)
|
|
|
NM_001042492.3(NF1):c.147del (p.Lys48_Tyr49insTer)
|
rs1597626031
|
|
NM_001042492.3(NF1):c.1527+1159C>T
|
rs878853868
|
|
NM_001042492.3(NF1):c.1527+1G>A
|
rs1060500331
|
|
NM_001042492.3(NF1):c.1527+1G>T
|
rs1060500331
|
|
NM_001042492.3(NF1):c.1527+2T>G
|
rs1064796700
|
|
NM_001042492.3(NF1):c.1527+4_1527+7del
|
rs1555612294
|
|
NM_001042492.3(NF1):c.1540C>T (p.Gln514Ter)
|
rs1316926587
|
|
NM_001042492.3(NF1):c.1541del (p.Gln514fs)
|
rs1555612815
|
|
NM_001042492.3(NF1):c.1572del (p.Glu524fs)
|
rs1085307461
|
|
NM_001042492.3(NF1):c.1591C>T (p.Gln531Ter)
|
rs1057518134
|
|
NM_001042492.3(NF1):c.1601del (p.Pro534fs)
|
rs2143986751
|
|
NM_001042492.3(NF1):c.1603C>T (p.Gln535Ter)
|
rs1567843917
|
|
NM_001042492.3(NF1):c.1608dup (p.His537fs)
|
rs1597703530
|
|
NM_001042492.3(NF1):c.1642-1G>T
|
rs1555613185
|
|
NM_001042492.3(NF1):c.1642-3C>G
|
rs1597706610
|
|
NM_001042492.3(NF1):c.1642-449A>G
|
rs863224655
|
|
NM_001042492.3(NF1):c.1660C>T (p.Gln554Ter)
|
rs953440640
|
|
NM_001042492.3(NF1):c.1672del (p.Ile558fs)
|
rs1567845057
|
|
NM_001042492.3(NF1):c.1682_1688dup (p.Asp564fs)
|
rs2144004346
|
|
NM_001042492.3(NF1):c.1711del (p.Trp571fs)
|
rs1597706737
|
|
NM_001042492.3(NF1):c.1717A>G (p.Ile573Val)
|
rs1597706766
|
|
NM_001042492.3(NF1):c.1721+1G>C
|
rs1131691096
|
|
NM_001042492.3(NF1):c.1721+3A>G
|
rs1057518904
|
|
NM_001042492.3(NF1):c.1721G>A (p.Ser574Asn)
|
rs1555613206
|
|
NM_001042492.3(NF1):c.1722-1G>A
|
rs1567845818
|
|
NM_001042492.3(NF1):c.1722-2A>G
|
rs763983337
|
|
NM_001042492.3(NF1):c.1726C>T (p.Gln576Ter)
|
rs1060500278
|
|
NM_001042492.3(NF1):c.1742del (p.Ile581fs)
|
rs2144015861
|
|
NM_001042492.3(NF1):c.1748A>G (p.Lys583Arg)
|
rs199474760
|
|
NM_001042492.3(NF1):c.1754T>G (p.Leu585Ter)
|
rs775670722
|
|
NM_001042492.3(NF1):c.1756_1759del (p.Thr586fs)
|
rs786202782
|
|
NM_001042492.3(NF1):c.1765C>T (p.Gln589Ter)
|
rs1282299543
|
|
NM_001042492.3(NF1):c.1785_1786del (p.Glu595fs)
|
rs1567845900
|
|
NM_001042492.3(NF1):c.1796G>A (p.Trp599Ter)
|
rs1131691130
|
|
NM_001042492.3(NF1):c.1797G>A (p.Trp599Ter)
|
rs1567845906
|
|
NM_001042492.3(NF1):c.1833del (p.Asn614fs)
|
|
|
NM_001042492.3(NF1):c.1845+1G>A
|
rs1567845945
|
|
NM_001042492.3(NF1):c.1845+1G>T
|
|
|
NM_001042492.3(NF1):c.1845+2T>G
|
|
|
NM_001042492.3(NF1):c.1845G>A (p.Lys615=)
|
rs1131691080
|
|
NM_001042492.3(NF1):c.1863del (p.Cys622fs)
|
rs1131691777
|
|
NM_001042492.3(NF1):c.1866T>A (p.Cys622Ter)
|
rs753245823
|
|
NM_001042492.3(NF1):c.1882del (p.Tyr628fs)
|
|
|
NM_001042492.3(NF1):c.1885G>A (p.Gly629Arg)
|
rs199474738
|
|
NM_001042492.3(NF1):c.1929dup (p.Ser644fs)
|
rs2066991676
|
|
NM_001042492.3(NF1):c.1973_1974del (p.Leu658fs)
|
rs1064796843
|
|
NM_001042492.3(NF1):c.2002-1G>A
|
rs1555613743
|
|
NM_001042492.3(NF1):c.2002-2A>C
|
rs1555613741
|
|
NM_001042492.3(NF1):c.2002-2_2002-1del
|
rs2151425505
|
|
NM_001042492.3(NF1):c.200del (p.Asn67fs)
|
rs1555604942
|
|
NM_001042492.3(NF1):c.2033_2034delinsA (p.Pro678fs)
|
rs2151425601
|
|
NM_001042492.3(NF1):c.2033del (p.Pro678fs)
|
rs587781807
|
|
NM_001042492.3(NF1):c.2033dup (p.Ile679fs)
|
rs587781807
|
|
NM_001042492.3(NF1):c.2034delinsCA (p.Ile679fs)
|
rs1064796331
|
|
NM_001042492.3(NF1):c.204+1G>A
|
rs886039548
|
|
NM_001042492.3(NF1):c.204+1G>T
|
rs886039548
|
|
NM_001042492.3(NF1):c.204+2T>G
|
rs1597626161
|
|
NM_001042492.3(NF1):c.205-1G>C
|
rs1555605362
|
|
NM_001042492.3(NF1):c.205-2A>G
|
rs1597629679
|
|
NM_001042492.3(NF1):c.2127T>A (p.Cys709Ter)
|
rs2067018146
|
|
NM_001042492.3(NF1):c.2135_2136dup (p.Leu713fs)
|
rs1555613810
|
|
NM_001042492.3(NF1):c.2142T>A (p.Cys714Ter)
|
rs141382637
|
|
NM_001042492.3(NF1):c.2149del (p.Ala717fs)
|
rs1567847540
|
|
NM_001042492.3(NF1):c.2163T>A (p.Cys721Ter)
|
rs1555613816
|
|
NM_001042492.3(NF1):c.2207del (p.Asn736fs)
|
rs1597712699
|
|
NM_001042492.3(NF1):c.2219del (p.Glu740fs)
|
rs2151426094
|
|
NM_001042492.3(NF1):c.2251+2T>C
|
|
|
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.2268del (p.Arg758fs)
|
rs2151426865
|
|
NM_001042492.3(NF1):c.2271_2272del (p.Arg758fs)
|
rs2067030828
|
|
NM_001042492.3(NF1):c.2288T>C (p.Leu763Pro)
|
rs199474762
|
|
NM_001042492.3(NF1):c.2293del (p.Arg765fs)
|
rs1597713360
|
|
NM_001042492.3(NF1):c.2325+1G>A
|
rs1555613933
|
|
NM_001042492.3(NF1):c.2325+2T>C
|
rs1567847972
|
|
NM_001042492.3(NF1):c.2325+3A>G
|
rs1057517848
|
|
NM_001042492.3(NF1):c.2325G>C (p.Glu775Asp)
|
rs1555613932
|
|
NM_001042492.3(NF1):c.2329T>C (p.Trp777Arg)
|
rs876658853
|
|
NM_001042492.3(NF1):c.2331_2365del (p.Trp777_Lys789delinsTer)
|
rs2067037428
|
|
NM_001042492.3(NF1):c.2339C>A (p.Thr780Lys)
|
rs199474746
|
|
NM_001042492.3(NF1):c.233del (p.Asn78fs)
|
rs1438566555
|
|
NM_001042492.3(NF1):c.236T>A (p.Leu79Ter)
|
rs1597629765
|
|
NM_001042492.3(NF1):c.2409+1G>A
|
rs1555614022
|
|
NM_001042492.3(NF1):c.2409+1G>T
|
rs1555614022
|
|
NM_001042492.3(NF1):c.2409+2T>G
|
rs876660826
|
|
NM_001042492.3(NF1):c.2410-12T>G
|
rs876657932
|
|
NM_001042492.3(NF1):c.2410-16A>G
|
rs1567848704
|
|
NM_001042492.3(NF1):c.2410-1G>C
|
rs1057518792
|
|
NM_001042492.3(NF1):c.2440A>T (p.Lys814Ter)
|
rs1555614184
|
|
NM_001042492.3(NF1):c.2446C>T (p.Arg816Ter)
|
rs886041347
|
|
NM_001042492.3(NF1):c.244_247del (p.Ser82_Gln83insTer)
|
rs771115661
|
|
NM_001042492.3(NF1):c.2452del (p.Ser818fs)
|
rs2067065066
|
|
NM_001042492.3(NF1):c.246_248delinsG (p.Gln83fs)
|
rs2143646085
|
|
NM_001042492.3(NF1):c.247C>T (p.Gln83Ter)
|
rs746824139
|
|
NM_001042492.3(NF1):c.2483del (p.Leu828fs)
|
rs1131691069
|
|
NM_001042492.3(NF1):c.249del (p.Gln83fs)
|
|
|
NM_001042492.3(NF1):c.2503C>T (p.Gln835Ter)
|
rs1555614207
|
|
NM_001042492.3(NF1):c.2511G>A (p.Trp837Ter)
|
rs1555614211
|
|
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.2537C>A (p.Ala846Asp)
|
rs1555614229
|
|
NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro)
|
rs199474747
|
|
NM_001042492.3(NF1):c.2545G>T (p.Gly849Ter)
|
rs1064794275
|
|
NM_001042492.3(NF1):c.2546del (p.Gly849fs)
|
rs1567848878
|
|
NM_001042492.3(NF1):c.2547dup (p.Val850fs)
|
|
|
NM_001042492.3(NF1):c.2557C>T (p.Gln853Ter)
|
rs2151429126
|
|
NM_001042492.3(NF1):c.2560C>T (p.Gln854Ter)
|
rs1555614261
|
|
NM_001042492.3(NF1):c.2617C>G (p.Arg873Gly)
|
rs199474739
|
|
NM_001042492.3(NF1):c.2619dup (p.Lys874Ter)
|
rs1555614284
|
|
NM_001042492.3(NF1):c.2665dup (p.Thr889fs)
|
rs886041348
|
|
NM_001042492.3(NF1):c.2674del (p.Ser892fs)
|
rs1555614296
|
|
NM_001042492.3(NF1):c.2709G>A (p.Val903=)
|
rs771820789
|
|
NM_001042492.3(NF1):c.2815_2816insG (p.Asn939fs)
|
rs2151429753
|
|
NM_001042492.3(NF1):c.2835del (p.Phe945fs)
|
rs1567849208
|
|
NM_001042492.3(NF1):c.2835dup (p.Asp946Ter)
|
rs1567849208
|
|
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.2850G>A (p.Gln950=)
|
rs863224446
|
|
NM_001042492.3(NF1):c.2875C>T (p.Gln959Ter)
|
rs2151430537
|
|
NM_001042492.3(NF1):c.288+1G>T
|
rs1567816131
|
|
NM_001042492.3(NF1):c.288+4A>G
|
rs781459468
|
|
NM_001042492.3(NF1):c.2887C>T (p.Gln963Ter)
|
rs876660444
|
|
NM_001042492.3(NF1):c.2890del (p.Thr964fs)
|
rs1555614437
|
|
NM_001042492.3(NF1):c.2892dup (p.Ile965fs)
|
rs2067083389
|
|
NM_001042492.3(NF1):c.289C>T (p.Gln97Ter)
|
rs1597635615
|
|
NM_001042492.3(NF1):c.2953C>T (p.Gln985Ter)
|
rs1555614455
|
|
NM_001042492.3(NF1):c.2970_2971del (p.Met991fs)
|
rs1597716432
|
|
NM_001042492.3(NF1):c.2970_2972del (p.Met992del)
|
rs267606606
|
|
NM_001042492.3(NF1):c.2990+1G>C
|
rs1135402836
|
|
NM_001042492.3(NF1):c.2990+1G>T
|
rs1135402836
|
|
NM_001042492.3(NF1):c.2991-1G>A
|
rs1060500273
|
|
NM_001042492.3(NF1):c.2991-1G>C
|
rs1060500273
|
|
NM_001042492.3(NF1):c.2991-2A>C
|
rs1555614495
|
|
NM_001042492.3(NF1):c.2991-2A>G
|
rs1555614495
|
|
NM_001042492.3(NF1):c.2994T>A (p.Tyr998Ter)
|
|
|
NM_001042492.3(NF1):c.3007_3008delinsTA (p.Gly1003Ter)
|
rs1597716834
|
|
NM_001042492.3(NF1):c.3028C>T (p.Gln1010Ter)
|
rs2151431557
|
|
NM_001042492.3(NF1):c.3037del (p.Thr1013fs)
|
rs1135402838
|
|
NM_001042492.3(NF1):c.3088_3089dup (p.Phe1031fs)
|
rs2067092561
|
|
NM_001042492.3(NF1):c.3106A>T (p.Lys1036Ter)
|
rs1567849891
|
|
NM_001042492.3(NF1):c.3113+1G>A
|
rs267606599
|
|
NM_001042492.3(NF1):c.3113+1G>C
|
rs267606599
|
|
NM_001042492.3(NF1):c.3113+2T>C
|
rs876658997
|
|
NM_001042492.3(NF1):c.3113+5G>C
|
rs1555614549
|
|
NM_001042492.3(NF1):c.311T>G (p.Leu104Ter)
|
rs1057521097
|
|
NM_001042492.3(NF1):c.319del (p.Thr107fs)
|
rs1131691116
|
|
NM_001042492.3(NF1):c.3222_3223del (p.Glu1074fs)
|
rs2067122558
|
|
NM_001042492.3(NF1):c.3256C>T (p.Gln1086Ter)
|
rs2067123355
|
|
NM_001042492.3(NF1):c.3261dup (p.Glu1088Ter)
|
rs1555614851
|
|
NM_001042492.3(NF1):c.3315-10_3335del
|
rs2151434411
|
|
NM_001042492.3(NF1):c.3347_3350del (p.Asp1116fs)
|
rs2067134697
|
|
NM_001042492.3(NF1):c.3376C>T (p.Gln1126Ter)
|
rs1555614947
|
|
NM_001042492.3(NF1):c.338del (p.Leu113fs)
|
rs1597635740
|
|
NM_001042492.3(NF1):c.339del (p.Leu113fs)
|
rs1597635745
|
|
NM_001042492.3(NF1):c.3445A>G (p.Met1149Val)
|
rs1187097568
|
|
NM_001042492.3(NF1):c.3447G>T (p.Met1149Ile)
|
rs1064794277
|
|
NM_001042492.3(NF1):c.3449C>G (p.Ser1150Ter)
|
rs1555614972
|
|
NM_001042492.3(NF1):c.3456dup (p.Leu1153fs)
|
rs1430634618
|
|
NM_001042492.3(NF1):c.3457_3460del (p.Leu1153fs)
|
rs1321848637
|
|
NM_001042492.3(NF1):c.3496+1G>A
|
rs2067138719
|
|
NM_001042492.3(NF1):c.3496+1G>C
|
rs2067138719
|
|
NM_001042492.3(NF1):c.3520C>T (p.Gln1174Ter)
|
rs868450405
|
|
NM_001042492.3(NF1):c.3525_3526del (p.Arg1176fs)
|
rs1131691092
|
|
NM_001042492.3(NF1):c.3544G>T (p.Val1182Phe)
|
rs1555615027
|
|
NM_001042492.3(NF1):c.3557_3561del (p.Ile1186fs)
|
rs2151435421
|
|
NM_001042492.3(NF1):c.3563A>C (p.Gln1188Pro)
|
rs758419553
|
|
NM_001042492.3(NF1):c.3610C>G (p.Arg1204Gly)
|
rs199474732
|
|
NM_001042492.3(NF1):c.3611G>T (p.Arg1204Leu)
|
rs1057521848
|
|
NM_001042492.3(NF1):c.3639_3641del (p.Met1215del)
|
rs1060500276
|
|
NM_001042492.3(NF1):c.3652C>T (p.Gln1218Ter)
|
|
|
NM_001042492.3(NF1):c.3665del (p.Pro1222fs)
|
rs867391752
|
|
NM_001042492.3(NF1):c.3677dup (p.Leu1227fs)
|
rs1567851501
|
|
NM_001042492.3(NF1):c.3693del (p.Pro1232fs)
|
|
|
NM_001042492.3(NF1):c.3703C>T (p.Gln1235Ter)
|
rs1555615109
|
|
NM_001042492.3(NF1):c.3708+2T>C
|
|
|
NM_001042492.3(NF1):c.3708G>A (p.Trp1236Ter)
|
rs2067145586
|
|
NM_001042492.3(NF1):c.3721C>T (p.Arg1241Ter)
|
rs137854562
|
|
NM_001042492.3(NF1):c.372_373insTT (p.Arg125fs)
|
rs1555606080
|
|
NM_001042492.3(NF1):c.3737dup (p.Phe1247fs)
|
rs1555615445
|
|
NM_001042492.3(NF1):c.3739_3742del (p.Phe1247fs)
|
rs1064794276
|
|
NM_001042492.3(NF1):c.3755delinsAG (p.Leu1252Ter)
|
|
|
NM_001042492.3(NF1):c.3763C>T (p.Gln1255Ter)
|
rs1060500308
|
|
NM_001042492.3(NF1):c.3772T>C (p.Trp1258Arg)
|
rs1597722508
|
|
NM_001042492.3(NF1):c.3810_3820del (p.Met1271fs)
|
rs2067188114
|
|
NM_001042492.3(NF1):c.3814C>T (p.Gln1272Ter)
|
rs2067188361
|
|
NM_001042492.3(NF1):c.3820_3823del (p.Leu1274fs)
|
|
|
NM_001042492.3(NF1):c.3822_3823del (p.Phe1275fs)
|
rs1555615472
|
|
NM_001042492.3(NF1):c.3824del (p.Phe1275fs)
|
|
|
NM_001042492.3(NF1):c.3826C>G (p.Arg1276Gly)
|
rs199474742
|
|
NM_001042492.3(NF1):c.3826C>T (p.Arg1276Ter)
|
rs199474742
|
|
NM_001042492.3(NF1):c.3827G>C (p.Arg1276Pro)
|
rs137854556
|
|
NM_001042492.3(NF1):c.3850del (p.Lys1283_Ile1284insTer)
|
|
|
NM_001042492.3(NF1):c.3870+1G>A
|
rs1131691075
|
|
NM_001042492.3(NF1):c.3888T>G (p.Tyr1296Ter)
|
rs2151438526
|
|
NM_001042492.3(NF1):c.3892C>T (p.Gln1298Ter)
|
rs2067193761
|
|
NM_001042492.3(NF1):c.3911T>A (p.Leu1304Ter)
|
rs761512189
|
|
NM_001042492.3(NF1):c.3916C>T (p.Arg1306Ter)
|
rs376576925
|
|
NM_001042492.3(NF1):c.3942G>A (p.Trp1314Ter)
|
rs2067194816
|
|
NM_001042492.3(NF1):c.3974+1G>A
|
rs1567852849
|
|
NM_001042492.3(NF1):c.3974+1G>C
|
rs1567852849
|
|
NM_001042492.3(NF1):c.3975-2A>G
|
rs864622431
|
|
NM_001042492.3(NF1):c.4000G>T (p.Glu1334Ter)
|
rs878853892
|
|
NM_001042492.3(NF1):c.4016T>G (p.Leu1339Arg)
|
rs1567858306
|
|
NM_001042492.3(NF1):c.4021C>T (p.Gln1341Ter)
|
rs137854559
|
|
NM_001042492.3(NF1):c.4076del (p.Pro1359fs)
|
rs1135402852
|
|
NM_001042492.3(NF1):c.4076dup (p.Gln1360fs)
|
rs1135402852
|
|
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.4109del (p.Gln1370fs)
|
rs2151451681
|
|
NM_001042492.3(NF1):c.4110+1G>C
|
rs1555617383
|
|
NM_001042492.3(NF1):c.422_437del (p.Val141fs)
|
rs1555606098
|
|
NM_001042492.3(NF1):c.4234A>G (p.Arg1412Gly)
|
rs1555618515
|
|
NM_001042492.3(NF1):c.4260_4261del (p.Pro1421fs)
|
rs1555618536
|
|
NM_001042492.3(NF1):c.4299dup (p.Arg1434Ter)
|
|
|
NM_001042492.3(NF1):c.4306G>T (p.Glu1436Ter)
|
rs876660428
|
|
NM_001042492.3(NF1):c.4330A>C (p.Lys1444Gln)
|
rs137854550
|
|
NM_001042492.3(NF1):c.4332+1G>T
|
rs1555618572
|
|
NM_001042492.3(NF1):c.4332+2T>G
|
|
|
NM_001042492.3(NF1):c.4333-2A>G
|
rs1555618634
|
|
NM_001042492.3(NF1):c.4333-2del
|
rs886041630
|
|
NM_001042492.3(NF1):c.4338del (p.Gln1447fs)
|
rs2067635690
|
|
NM_001042492.3(NF1):c.4339C>G (p.Gln1447Glu)
|
rs1135402857
|
|
NM_001042492.3(NF1):c.4369A>C (p.Lys1457Gln)
|
rs878853893
|
|
NM_001042492.3(NF1):c.4369A>G (p.Lys1457Glu)
|
rs878853893
|
|
NM_001042492.3(NF1):c.4371del (p.Glu1458fs)
|
|
|
NM_001042492.3(NF1):c.4372G>T (p.Glu1458Ter)
|
rs1135402858
|
|
NM_001042492.3(NF1):c.4372GAA[1] (p.Glu1459del)
|
rs267606607
|
|
NM_001042492.3(NF1):c.4380dup (p.Met1461fs)
|
rs886041435
|
|
NM_001042492.3(NF1):c.4405A>T (p.Lys1469Ter)
|
rs1567862353
|
|
NM_001042492.3(NF1):c.4430+1G>A
|
rs773151680
|
|
NM_001042492.3(NF1):c.4430+2T>G
|
rs1555618693
|
|
NM_001042492.3(NF1):c.4436dup (p.Leu1480fs)
|
rs1555618803
|
|
NM_001042492.3(NF1):c.4444dup (p.Ile1482fs)
|
rs2151464529
|
|
NM_001042492.3(NF1):c.4465A>G (p.Ser1489Gly)
|
rs199474743
|
|
NM_001042492.3(NF1):c.4535G>A (p.Trp1512Ter)
|
rs1267947462
|
|
NM_001042492.3(NF1):c.4536G>A (p.Trp1512Ter)
|
rs878853897
|
|
NM_001042492.3(NF1):c.4556G>A (p.Gly1519Glu)
|
rs1567863004
|
|
NM_001042492.3(NF1):c.4567dup (p.Ser1523fs)
|
rs2067665969
|
|
NM_001042492.3(NF1):c.4577+1G>A
|
rs1279529138
|
|
NM_001042492.3(NF1):c.4578-19A>G
|
rs1555618994
|
|
NM_001042492.3(NF1):c.4597A>T (p.Arg1533Ter)
|
rs1064796633
|
|
NM_001042492.3(NF1):c.4608del (p.Phe1536fs)
|
rs2151466252
|
|
NM_001042492.3(NF1):c.4635C>G (p.Tyr1545Ter)
|
rs754023358
|
|
NM_001042492.3(NF1):c.4640del (p.Gly1547fs)
|
rs2067690686
|
|
NM_001042492.3(NF1):c.4669dup (p.Thr1557fs)
|
rs1555619033
|
|
NM_001042492.3(NF1):c.4676G>A (p.Trp1559Ter)
|
rs2067691658
|
|
NM_001042492.3(NF1):c.4677G>A (p.Trp1559Ter)
|
rs137854555
|
|
NM_001042492.3(NF1):c.4684del (p.Asn1563fs)
|
rs1555619041
|
|
NM_001042492.3(NF1):c.4700C>A (p.Ser1567Ter)
|
rs1555619051
|
|
NM_001042492.3(NF1):c.4700C>G (p.Ser1567Ter)
|
rs1555619051
|
|
NM_001042492.3(NF1):c.4725-1G>A
|
rs1555619391
|
|
NM_001042492.3(NF1):c.479+1G>A
|
rs1555606137
|
|
NM_001042492.3(NF1):c.479+1G>T
|
rs1555606137
|
|
NM_001042492.3(NF1):c.479+5G>A
|
rs1567818033
|
|
NM_001042492.3(NF1):c.4798A>T (p.Lys1600Ter)
|
rs1567865056
|
|
NM_001042492.3(NF1):c.480-2A>G
|
rs1567820688
|
|
NM_001042492.3(NF1):c.4819del (p.Tyr1607fs)
|
rs876658492
|
|
NM_001042492.3(NF1):c.4824T>A (p.Tyr1608Ter)
|
rs1567865089
|
|
NM_001042492.3(NF1):c.4836-1G>A
|
rs1057518326
|
|
NM_001042492.3(NF1):c.4836-2A>C
|
rs1555533265
|
|
NM_001042492.3(NF1):c.4836-2A>T
|
rs1555533265
|
|
NM_001042492.3(NF1):c.484C>T (p.Gln162Ter)
|
rs1555607073
|
|
NM_001042492.3(NF1):c.487G>T (p.Glu163Ter)
|
rs2065903080
|
|
NM_001042492.3(NF1):c.491T>G (p.Leu164Ter)
|
|
|
NM_001042492.3(NF1):c.496_497del (p.Val166fs)
|
rs1135402788
|
|
NM_001042492.3(NF1):c.4973_4974del (p.Phe1658fs)
|
rs2069329470
|
|
NM_001042492.3(NF1):c.4977_4980del (p.Lys1661fs)
|
rs1085307459
|
|
NM_001042492.3(NF1):c.4980dup (p.Lys1661Ter)
|
rs2069329774
|
|
NM_001042492.3(NF1):c.4986G>A (p.Trp1662Ter)
|
rs2151538007
|
|
NM_001042492.3(NF1):c.4998del (p.Pro1667fs)
|
rs1135402867
|
|
NM_001042492.3(NF1):c.499_502del (p.Cys167fs)
|
rs786201874
|
|
NM_001042492.3(NF1):c.5013C>G (p.Tyr1671Ter)
|
rs1060500255
|
|
NM_001042492.3(NF1):c.5037_5040del (p.Tyr1680fs)
|
|
|
NM_001042492.3(NF1):c.503C>A (p.Ser168Ter)
|
|
|
NM_001042492.3(NF1):c.503C>G (p.Ser168Ter)
|
rs1131691994
|
|
NM_001042492.3(NF1):c.5045_5046del (p.Asn1681_Cys1682insTer)
|
rs1597829906
|
|
NM_001042492.3(NF1):c.5067C>A (p.Tyr1689Ter)
|
rs756708811
|
|
NM_001042492.3(NF1):c.5126_5127delinsG (p.Ile1709fs)
|
|
|
NM_001042492.3(NF1):c.5203G>T (p.Glu1735Ter)
|
rs2151538896
|
|
NM_001042492.3(NF1):c.5268+1G>T
|
rs2069338793
|
|
NM_001042492.3(NF1):c.5269-1G>A
|
rs876660141
|
|
NM_001042492.3(NF1):c.5269-2A>G
|
rs1555533548
|
|
NM_001042492.3(NF1):c.5287C>T (p.Gln1763Ter)
|
rs2069375606
|
|
NM_001042492.3(NF1):c.5297C>G (p.Ser1766Ter)
|
rs1555533555
|
|
NM_001042492.3(NF1):c.5305C>T (p.Arg1769Ter)
|
rs876657714
|
|
NM_001042492.3(NF1):c.5320_5324dup (p.Ser1776fs)
|
rs1555533562
|
|
NM_001042492.3(NF1):c.5335del (p.Phe1778_Leu1779insTer)
|
|
|
NM_001042492.3(NF1):c.5356del (p.Ser1786fs)
|
|
|
NM_001042492.3(NF1):c.539dup (p.Leu180fs)
|
|
|
NM_001042492.3(NF1):c.541C>T (p.Gln181Ter)
|
rs753529924
|
|
NM_001042492.3(NF1):c.5431_5449del (p.Thr1811fs)
|
rs1567612488
|
|
NM_001042492.3(NF1):c.544_550del (p.Tyr182fs)
|
rs2143707713
|
|
NM_001042492.3(NF1):c.5469dup (p.Ile1824fs)
|
rs267606605
|
|
NM_001042492.3(NF1):c.5489G>T (p.Arg1830Leu)
|
rs771529172
|
|
NM_001042492.3(NF1):c.5493G>A (p.Trp1831Ter)
|
rs2069382585
|
|
NM_001042492.3(NF1):c.5503C>T (p.Gln1835Ter)
|
rs786202177
|
|
NM_001042492.3(NF1):c.5503_5530dup (p.Lys1844fs)
|
rs2151541577
|
|
NM_001042492.3(NF1):c.5516del (p.Ile1839fs)
|
rs1597832304
|
|
NM_001042492.3(NF1):c.5521C>T (p.Gln1841Ter)
|
rs786203570
|
|
NM_001042492.3(NF1):c.5529dup (p.Lys1844fs)
|
rs1555533628
|
|
NM_001042492.3(NF1):c.5541_5547del (p.Lys1848fs)
|
rs1064796631
|
|
NM_001042492.3(NF1):c.5606T>G (p.Leu1869Ter)
|
rs1597832482
|
|
NM_001042492.3(NF1):c.5609G>A (p.Arg1870Gln)
|
rs786202112
|
|
NM_001042492.3(NF1):c.5610-1G>C
|
rs1567613569
|
|
NM_001042492.3(NF1):c.5657T>A (p.Leu1886Ter)
|
rs1555533853
|
|
NM_001042492.3(NF1):c.5690del (p.Gly1897fs)
|
rs2151544622
|
|
NM_001042492.3(NF1):c.569T>A (p.Leu190Ter)
|
|
|
NM_001042492.3(NF1):c.569T>G (p.Leu190Ter)
|
rs1555607112
|
|
NM_001042492.3(NF1):c.5730dup (p.Ile1911fs)
|
rs876660212
|
|
NM_001042492.3(NF1):c.5785G>T (p.Glu1929Ter)
|
rs2069454068
|
|
NM_001042492.3(NF1):c.5789_5790del (p.Cys1930fs)
|
rs2069454362
|
|
NM_001042492.3(NF1):c.5806_5812+1del
|
rs2069454695
|
|
NM_001042492.3(NF1):c.5806_5812del (p.Lys1936fs)
|
rs1597834959
|
|
NM_001042492.3(NF1):c.5813-1G>A
|
rs1057518974
|
|
NM_001042492.3(NF1):c.5822T>A (p.Leu1941Ter)
|
rs1555534375
|
|
NM_001042492.3(NF1):c.5830del (p.Leu1944fs)
|
rs1555534378
|
|
NM_001042492.3(NF1):c.5839G>T (p.Glu1947Ter)
|
rs587782088
|
|
NM_001042492.3(NF1):c.5842T>G (p.Tyr1948Asp)
|
rs1057520575
|
|
NM_001042492.3(NF1):c.5855G>A (p.Trp1952Ter)
|
rs1567615766
|
|
NM_001042492.3(NF1):c.5856G>A (p.Trp1952Ter)
|
rs1555534393
|
|
NM_001042492.3(NF1):c.586+1G>A
|
rs1555607126
|
|
NM_001042492.3(NF1):c.587-2A>G
|
rs1057518360
|
|
NM_001042492.3(NF1):c.587-2A>T
|
rs1057518360
|
|
NM_001042492.3(NF1):c.5880C>A (p.Cys1960Ter)
|
rs1462287670
|
|
NM_001042492.3(NF1):c.5901del (p.Lys1967fs)
|
rs1597840123
|
|
NM_001042492.3(NF1):c.5902C>T (p.Arg1968Ter)
|
rs137854552
|
|
NM_001042492.3(NF1):c.5938del (p.Thr1980fs)
|
rs1567615852
|
|
NM_001042492.3(NF1):c.5959C>T (p.Gln1987Ter)
|
rs876659070
|
|
NM_001042492.3(NF1):c.5961_5962del (p.Gln1987fs)
|
|
|
NM_001042492.3(NF1):c.5967C>G (p.Tyr1989Ter)
|
rs1567615902
|
|
NM_001042492.3(NF1):c.5985_5986del (p.Lys1995fs)
|
|
|
NM_001042492.3(NF1):c.5991G>A (p.Trp1997Ter)
|
rs876660696
|
|
NM_001042492.3(NF1):c.6004C>T (p.Gln2002Ter)
|
rs1567615941
|
|
NM_001042492.3(NF1):c.6006+1G>A
|
rs1555534433
|
|
NM_001042492.3(NF1):c.6006+2T>G
|
rs1258498548
|
|
NM_001042492.3(NF1):c.6006_6006+1delinsAA
|
rs1064796077
|
|
NM_001042492.3(NF1):c.6007-5A>G
|
rs267606604
|
|
NM_001042492.3(NF1):c.6041del (p.Phe2014fs)
|
rs2151553250
|
|
NM_001042492.3(NF1):c.6060_6147+57del
|
rs2151553312
|
|
NM_001042492.3(NF1):c.6062del (p.Gly2021fs)
|
rs1057518475
|
|
NM_001042492.3(NF1):c.6088dup (p.Val2030fs)
|
rs1555534609
|
|
NM_001042492.3(NF1):c.610del (p.Ala203_Leu204insTer)
|
|
|
NM_001042492.3(NF1):c.6147+1G>A
|
rs1060500296
|
|
NM_001042492.3(NF1):c.6148-1G>A
|
rs1555534661
|
|
NM_001042492.3(NF1):c.6225G>A (p.Trp2075Ter)
|
rs1555534677
|
|
NM_001042492.3(NF1):c.6303del (p.Tyr2102fs)
|
rs1597842936
|
|
NM_001042492.3(NF1):c.6352dup (p.Leu2118fs)
|
rs2151554927
|
|
NM_001042492.3(NF1):c.6388del (p.Ile2130fs)
|
rs1597843169
|
|
NM_001042492.3(NF1):c.6397_6398del (p.Leu2133fs)
|
rs1567617129
|
|
NM_001042492.3(NF1):c.6401_6402del (p.Cys2134fs)
|
rs1597843186
|
|
NM_001042492.3(NF1):c.6425del (p.Ser2142fs)
|
rs2069691466
|
|
NM_001042492.3(NF1):c.6427+1G>T
|
|
|
NM_001042492.3(NF1):c.6427+2T>C
|
rs1567617158
|
|
NM_001042492.3(NF1):c.6428-2A>G
|
rs1060500312
|
|
NM_001042492.3(NF1):c.6428-3C>G
|
rs374014162
|
|
NM_001042492.3(NF1):c.6430G>T (p.Glu2144Ter)
|
rs1567617371
|
|
NM_001042492.3(NF1):c.6439C>T (p.Gln2147Ter)
|
rs1555534859
|
|
NM_001042492.3(NF1):c.6462dup (p.Glu2155fs)
|
rs1135402888
|
|
NM_001042492.3(NF1):c.6473T>A (p.Leu2158Ter)
|
rs2151556088
|
|
NM_001042492.3(NF1):c.654+1G>A
|
rs1060500245
|
|
NM_001042492.3(NF1):c.6583_6586del (p.Glu2195fs)
|
rs1131691084
|
|
NM_001042492.3(NF1):c.6585_6586del (p.Glu2195fs)
|
rs1131691084
|
|
NM_001042492.3(NF1):c.6596T>A (p.Leu2199Ter)
|
rs1597843979
|
|
NM_001042492.3(NF1):c.662G>A (p.Trp221Ter)
|
rs1131691126
|
|
NM_001042492.3(NF1):c.663del (p.Phe220_Trp221insTer)
|
rs1555608736
|
|
NM_001042492.3(NF1):c.6642+1G>A
|
rs1060500345
|
|
NM_001042492.3(NF1):c.6643-1_6643delinsTT
|
rs2151557372
|
|
NM_001042492.3(NF1):c.6658_6659del (p.Ile2220fs)
|
rs2151557411
|
|
NM_001042492.3(NF1):c.6669C>A (p.Cys2223Ter)
|
rs1555534918
|
|
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.6682C>T (p.Gln2228Ter)
|
rs2069718249
|
|
NM_001042492.3(NF1):c.668G>A (p.Trp223Ter)
|
rs1567826110
|
|
NM_001042492.3(NF1):c.669G>A (p.Trp223Ter)
|
rs1057517967
|
|
NM_001042492.3(NF1):c.6704+1G>A
|
rs1060500376
|
|
NM_001042492.3(NF1):c.6704+1del
|
rs1597844692
|
|
NM_001042492.3(NF1):c.6713_6715del (p.Phe2238_Gln2239delinsTer)
|
rs1555534948
|
|
NM_001042492.3(NF1):c.6715C>T (p.Gln2239Ter)
|
rs1131691093
|
|
NM_001042492.3(NF1):c.6733C>T (p.Gln2245Ter)
|
rs1597845013
|
|
NM_001042492.3(NF1):c.6751_6754del (p.Val2251fs)
|
rs1567617877
|
|
NM_001042492.3(NF1):c.6772C>T (p.Arg2258Ter)
|
rs876658541
|
|
NM_001042492.3(NF1):c.6796C>T (p.Gln2266Ter)
|
rs1555534955
|
|
NM_001042492.3(NF1):c.67del (p.Pro22_Ile23insTer)
|
rs1597625799
|
|
NM_001042492.3(NF1):c.6819+1G>A
|
rs1555534964
|
|
NM_001042492.3(NF1):c.6819+2T>A
|
rs1135402894
|
|
NM_001042492.3(NF1):c.6819+2T>C
|
rs1135402894
|
|
NM_001042492.3(NF1):c.681T>G (p.Tyr227Ter)
|
rs745804540
|
|
NM_001042492.3(NF1):c.6832del (p.Cys2278fs)
|
rs2069742717
|
|
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.6864A>G (p.Gln2288=)
|
rs1064794756
|
|
NM_001042492.3(NF1):c.688G>T (p.Glu230Ter)
|
rs2066138676
|
|
NM_001042492.3(NF1):c.6904C>T (p.Gln2302Ter)
|
rs1057518807
|
|
NM_001042492.3(NF1):c.6912_6916del (p.Leu2304_Leu2305insTer)
|
rs878853025
|
|
NM_001042492.3(NF1):c.6921+1G>A
|
rs1060500355
|
|
NM_001042492.3(NF1):c.6921+2T>C
|
rs1555535053
|
|
NM_001042492.3(NF1):c.6929del (p.Pro2310fs)
|
rs2151561461
|
|
NM_001042492.3(NF1):c.6932_6933del (p.Leu2311fs)
|
rs2151561476
|
|
NM_001042492.3(NF1):c.6970C>T (p.Gln2324Ter)
|
rs1131691073
|
|
NM_001042492.3(NF1):c.7015G>T (p.Glu2339Ter)
|
rs1060500359
|
|
NM_001042492.3(NF1):c.7034T>G (p.Leu2345Ter)
|
rs1555535195
|
|
NM_001042492.3(NF1):c.7037_7040del (p.Asp2346fs)
|
rs1597848201
|
|
NM_001042492.3(NF1):c.7063-1G>A
|
rs1131691114
|
|
NM_001042492.3(NF1):c.7063-1G>T
|
rs1131691114
|
|
NM_001042492.3(NF1):c.7063-2A>G
|
rs1597851255
|
|
NM_001042492.3(NF1):c.7063-2del
|
rs2151564936
|
|
NM_001042492.3(NF1):c.706C>T (p.Gln236Ter)
|
|
|
NM_001042492.3(NF1):c.7113C>A (p.Cys2371Ter)
|
rs2069867490
|
|
NM_001042492.3(NF1):c.7152dup (p.Asn2385Ter)
|
rs1555535434
|
|
NM_001042492.3(NF1):c.7153AACTTT[1] (p.2385NF[1])
|
rs864622639
|
|
NM_001042492.3(NF1):c.7184del (p.Leu2394_Leu2395insTer)
|
rs2069870374
|
|
NM_001042492.3(NF1):c.7188del (p.Tyr2398fs)
|
rs777872719
|
|
NM_001042492.3(NF1):c.724dup (p.Met242fs)
|
rs1555608763
|
|
NM_001042492.3(NF1):c.7255_7256del (p.Leu2419fs)
|
rs1597858459
|
|
NM_001042492.3(NF1):c.7256_7257del (p.Leu2419fs)
|
rs1555536027
|
|
NM_001042492.3(NF1):c.7266del (p.Lys2422fs)
|
rs2151572751
|
|
NM_001042492.3(NF1):c.7269_7270del (p.His2423fs)
|
rs878853913
|
|
NM_001042492.3(NF1):c.7271_7272del (p.Arg2424fs)
|
rs2070076529
|
|
NM_001042492.3(NF1):c.7274del (p.Asn2425fs)
|
rs1555536030
|
|
NM_001042492.3(NF1):c.7284del (p.Lys2428fs)
|
rs2070077334
|
|
NM_001042492.3(NF1):c.730+1G>A
|
rs1060500274
|
|
NM_001042492.3(NF1):c.730+2T>G
|
rs200962248
|
|
NM_001042492.3(NF1):c.7303_7304del (p.Ser2435fs)
|
rs1597858594
|
|
NM_001042492.3(NF1):c.730G>A (p.Glu244Lys)
|
rs1567826188
|
|
NM_001042492.3(NF1):c.731-1G>A
|
rs1555608928
|
|
NM_001042492.3(NF1):c.731-2A>G
|
rs1555608924
|
|
NM_001042492.3(NF1):c.7314C>G (p.Tyr2438Ter)
|
rs1060500385
|
|
NM_001042492.3(NF1):c.7322-2_7347del
|
|
|
NM_001042492.3(NF1):c.7330_7331insAA (p.Thr2444fs)
|
rs1064794278
|
|
NM_001042492.3(NF1):c.7330dup (p.Thr2444fs)
|
rs1064794278
|
|
NM_001042492.3(NF1):c.7348C>T (p.Arg2450Ter)
|
rs786202457
|
|
NM_001042492.3(NF1):c.7368del (p.Lys2456fs)
|
|
|
NM_001042492.3(NF1):c.7428del (p.Ile2478fs)
|
|
|
NM_001042492.3(NF1):c.7453dup (p.Tyr2485fs)
|
rs2070108811
|
|
NM_001042492.3(NF1):c.7458-1G>A
|
rs1597862012
|
|
NM_001042492.3(NF1):c.7458-1G>C
|
rs1597862012
|
|
NM_001042492.3(NF1):c.7465A>T (p.Lys2489Ter)
|
rs1555536338
|
|
NM_001042492.3(NF1):c.7505_7508dup (p.Tyr2503Ter)
|
rs1597862086
|
|
NM_001042492.3(NF1):c.7524T>G (p.Tyr2508Ter)
|
rs2151577136
|
|
NM_001042492.3(NF1):c.7549C>T (p.Arg2517Ter)
|
rs866445127
|
|
NM_001042492.3(NF1):c.7591C>T (p.Gln2531Ter)
|
rs1555536372
|
|
NM_001042492.3(NF1):c.7602dup (p.Lys2535Ter)
|
rs2070172428
|
|
NM_001042492.3(NF1):c.7614del (p.Gly2539fs)
|
rs2070173038
|
|
NM_001042492.3(NF1):c.7615+1G>T
|
rs1555536380
|
|
NM_001042492.3(NF1):c.7682C>G (p.Ser2561Ter)
|
rs2070274228
|
|
NM_001042492.3(NF1):c.7701dup (p.Lys2568fs)
|
rs1060500295
|
|
NM_001042492.3(NF1):c.7738+1G>A
|
|
|
NM_001042492.3(NF1):c.7747_7748del (p.Arg2583fs)
|
rs1135402907
|
|
NM_001042492.3(NF1):c.7747_7748dup (p.Ile2584fs)
|
rs1135402907
|
|
NM_001042492.3(NF1):c.7749del (p.Ile2584fs)
|
rs2151582195
|
|
NM_001042492.3(NF1):c.7762C>T (p.Gln2588Ter)
|
rs1555536687
|
|
NM_001042492.3(NF1):c.7772del (p.Pro2591fs)
|
rs1064795136
|
|
NM_001042492.3(NF1):c.7778del (p.Leu2593fs)
|
rs1567626919
|
|
NM_001042492.3(NF1):c.7784_7785del (p.Lys2595fs)
|
rs1597866414
|
|
NM_001042492.3(NF1):c.7822dup (p.Glu2608fs)
|
|
|
NM_001042492.3(NF1):c.7869+1G>A
|
rs1329683225
|
|
NM_001042492.3(NF1):c.7909C>T (p.Arg2637Ter)
|
rs786201367
|
|
NM_001042492.3(NF1):c.7947_7948del (p.Phe2650fs)
|
rs2070298589
|
|
NM_001042492.3(NF1):c.7950del (p.Val2653fs)
|
rs2070298779
|
|
NM_001042492.3(NF1):c.7960_7963del (p.Phe2654fs)
|
|
|
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.8059_8060del (p.Ser2687fs)
|
rs1060500387
|
|
NM_001042492.3(NF1):c.8095C>T (p.Gln2699Ter)
|
rs786203443
|
|
NM_001042492.3(NF1):c.8139_8143del (p.Phe2714fs)
|
|
|
NM_001042492.3(NF1):c.818del (p.Leu273fs)
|
rs2143786053
|
|
NM_001042492.3(NF1):c.843_844delinsTT (p.Gln282Ter)
|
rs2143786391
|
|
NM_001042492.3(NF1):c.844C>T (p.Gln282Ter)
|
rs753054046
|
|
NM_001042492.3(NF1):c.888+2T>G
|
rs2066160116
|
|
NM_001042492.3(NF1):c.889-2A>G
|
rs878853922
|
|
NM_001042492.3(NF1):c.907_908del (p.Leu303fs)
|
|
|
NM_001042492.3(NF1):c.910C>T (p.Arg304Ter)
|
rs786203950
|
|
NM_001042492.3(NF1):c.91_92del (p.His31fs)
|
rs1567814432
|
|
NM_001042492.3(NF1):c.926del (p.Gly309fs)
|
rs1597680816
|
|
NM_001042492.3(NF1):c.943C>T (p.Gln315Ter)
|
rs766011053
|
|
NM_001042492.3(NF1):c.950_953dup (p.Glu318fs)
|
rs1555610879
|
|
NM_001042492.3(NF1):c.952_953del (p.Glu318fs)
|
rs2066507116
|
|
NM_001042492.3(NF1):c.978dup (p.Leu327fs)
|
rs2066507887
|
|
NM_001042492.3(NF1):c.983_984del (p.Leu327_Cys328insTer)
|
rs1555610893
|
|
NM_001042492.3(NF1):c.989C>T (p.Ala330Val)
|
rs1555610898
|
|
NM_001042492.3(NF1):c.999del (p.Thr332_Tyr333insTer)
|
rs2143873634
|
|