NM_001042492.3(NF1):c.2850+17T>C
|
rs1410636379
|
0.00034
|
NM_001042492.3(NF1):c.5906A>T (p.Gln1969Leu)
|
rs143502927
|
0.00029
|
NM_001042492.3(NF1):c.7322-16A>G
|
rs369168102
|
0.00029
|
NM_001042492.3(NF1):c.7554C>G (p.Ala2518=)
|
rs141897690
|
0.00026
|
NM_001042492.3(NF1):c.61-19T>C
|
rs185325140
|
0.00025
|
NM_001042492.3(NF1):c.7998C>T (p.Asn2666=)
|
rs747307832
|
0.00024
|
NM_001042492.3(NF1):c.5269-9A>G
|
rs544515671
|
0.00021
|
NM_001042492.3(NF1):c.4749A>G (p.Glu1583=)
|
rs144091165
|
0.00019
|
NM_001042492.3(NF1):c.3672G>A (p.Ala1224=)
|
rs151293900
|
0.00018
|
NM_001042492.3(NF1):c.107C>G (p.Thr36Ser)
|
rs199966218
|
0.00015
|
NM_001042492.3(NF1):c.3436G>A (p.Val1146Ile)
|
rs201047812
|
0.00015
|
NM_001042492.3(NF1):c.2133C>T (p.Arg711=)
|
rs148085908
|
0.00014
|
NM_001042492.3(NF1):c.3708+19C>T
|
rs371590712
|
0.00014
|
NM_001042492.3(NF1):c.3871-15C>T
|
rs200104394
|
0.00014
|
NM_001042492.3(NF1):c.2002-9G>T
|
rs376197466
|
0.00013
|
NM_001042492.3(NF1):c.2838C>T (p.Asp946=)
|
rs147188807
|
0.00013
|
NM_001042492.3(NF1):c.7026G>A (p.Leu2342=)
|
rs371581213
|
0.00013
|
NM_001042492.3(NF1):c.2191C>T (p.Leu731Phe)
|
rs185204667
|
0.00012
|
NM_001042492.3(NF1):c.5322G>A (p.Gly1774=)
|
rs201584313
|
0.00012
|
NM_001042492.3(NF1):c.3621A>G (p.Arg1207=)
|
rs141390152
|
0.00011
|
NM_001042492.3(NF1):c.7354C>T (p.Arg2452Cys)
|
rs377662483
|
0.00011
|
NM_001042492.3(NF1):c.2541T>C (p.Leu847=)
|
rs147433258
|
0.00010
|
NM_001042492.3(NF1):c.2325+16C>G
|
rs371709563
|
0.00009
|
NM_001042492.3(NF1):c.4724+11A>G
|
rs368649260
|
0.00009
|
NM_001042492.3(NF1):c.4836-3T>C
|
rs372460369
|
0.00009
|
NM_001042492.3(NF1):c.5513C>G (p.Ser1838Cys)
|
rs368654378
|
0.00009
|
NM_001042492.3(NF1):c.5757G>A (p.Glu1919=)
|
rs141077224
|
0.00009
|
NM_001042492.3(NF1):c.2238T>C (p.Asn746=)
|
rs768161162
|
0.00008
|
NM_001042492.3(NF1):c.5497C>T (p.Leu1833=)
|
rs372932380
|
0.00008
|
NM_001042492.3(NF1):c.6171A>T (p.Ile2057=)
|
rs140733963
|
0.00008
|
NM_001042492.3(NF1):c.8105A>T (p.Tyr2702Phe)
|
rs201824349
|
0.00008
|
NM_001042492.3(NF1):c.1392+6A>T
|
rs200798969
|
0.00007
|
NM_001042492.3(NF1):c.1528-10T>C
|
rs376174484
|
0.00007
|
NM_001042492.3(NF1):c.3636C>A (p.Val1212=)
|
rs145126193
|
0.00007
|
NM_001042492.3(NF1):c.3727C>T (p.Leu1243=)
|
rs750993436
|
0.00007
|
NM_001042492.3(NF1):c.4803T>C (p.Ala1601=)
|
rs148662566
|
0.00007
|
NM_001042492.3(NF1):c.4943C>T (p.Thr1648Ile)
|
rs376655102
|
0.00007
|
NM_001042492.3(NF1):c.1186-19T>A
|
rs772566923
|
0.00006
|
NM_001042492.3(NF1):c.1528-14T>C
|
rs368116557
|
0.00006
|
NM_001042492.3(NF1):c.3496+13G>T
|
rs755160223
|
0.00006
|
NM_001042492.3(NF1):c.3686A>G (p.Asn1229Ser)
|
rs140523180
|
0.00006
|
NM_001042492.3(NF1):c.393A>C (p.Ala131=)
|
rs761086521
|
0.00006
|
NM_001042492.3(NF1):c.4526G>A (p.Arg1509His)
|
rs546073780
|
0.00006
|
NM_001042492.3(NF1):c.5961G>A (p.Gln1987=)
|
rs757536610
|
0.00006
|
NM_001042492.3(NF1):c.6033A>G (p.Leu2011=)
|
rs147995863
|
0.00006
|
NM_001042492.3(NF1):c.6375G>A (p.Leu2125=)
|
rs773467465
|
0.00006
|
NM_001042492.3(NF1):c.7063-15G>A
|
rs375376967
|
0.00006
|
NM_001042492.3(NF1):c.7520C>T (p.Thr2507Ile)
|
rs149055633
|
0.00006
|
NM_001042492.3(NF1):c.8395G>A (p.Val2799Ile)
|
rs377393842
|
0.00006
|
NM_001042492.3(NF1):c.1166A>G (p.His389Arg)
|
rs149739570
|
0.00005
|
NM_001042492.3(NF1):c.1588G>A (p.Val530Ile)
|
rs145191978
|
0.00005
|
NM_001042492.3(NF1):c.1894T>A (p.Cys632Ser)
|
rs370789267
|
0.00005
|
NM_001042492.3(NF1):c.2326-13G>C
|
rs770203564
|
0.00005
|
NM_001042492.3(NF1):c.4207G>A (p.Gly1403Ser)
|
rs138227618
|
0.00005
|
NM_001042492.3(NF1):c.4263G>A (p.Pro1421=)
|
rs201648604
|
0.00005
|
NM_001042492.3(NF1):c.479+20T>A
|
rs771415669
|
0.00005
|
NM_001042492.3(NF1):c.6315C>T (p.His2105=)
|
rs145732909
|
0.00005
|
NM_001042492.3(NF1):c.6528T>C (p.Ile2176=)
|
rs147522129
|
0.00005
|
NM_001042492.3(NF1):c.7245A>G (p.Thr2415=)
|
rs539553128
|
0.00005
|
NM_001042492.3(NF1):c.1062+67T>C
|
rs757368493
|
0.00004
|
NM_001042492.3(NF1):c.1806A>G (p.Glu602=)
|
rs370454753
|
0.00004
|
NM_001042492.3(NF1):c.2592C>T (p.Ser864=)
|
rs761499485
|
0.00004
|
NM_001042492.3(NF1):c.2851-15T>G
|
rs371120423
|
0.00004
|
NM_001042492.3(NF1):c.2991-4A>G
|
rs754414489
|
0.00004
|
NM_001042492.3(NF1):c.3114-4A>G
|
rs201550230
|
0.00004
|
NM_001042492.3(NF1):c.3342G>A (p.Leu1114=)
|
rs1172575807
|
0.00004
|
NM_001042492.3(NF1):c.3358G>C (p.Val1120Leu)
|
rs200594167
|
0.00004
|
NM_001042492.3(NF1):c.3484A>G (p.Met1162Val)
|
rs773968270
|
0.00004
|
NM_001042492.3(NF1):c.3690G>T (p.Val1230=)
|
rs183296277
|
0.00004
|
NM_001042492.3(NF1):c.3708+11A>C
|
rs373751277
|
0.00004
|
NM_001042492.3(NF1):c.4724+12C>T
|
rs747166610
|
0.00004
|
NM_001042492.3(NF1):c.4767G>A (p.Thr1589=)
|
rs376659579
|
0.00004
|
NM_001042492.3(NF1):c.4835+13A>G
|
rs1034258238
|
0.00004
|
NM_001042492.3(NF1):c.4835+14T>C
|
rs758851307
|
0.00004
|
NM_001042492.3(NF1):c.5609+11T>A
|
rs759092552
|
0.00004
|
NM_001042492.3(NF1):c.5664C>T (p.Ile1888=)
|
rs373685150
|
0.00004
|
NM_001042492.3(NF1):c.5793T>C (p.Ile1931=)
|
rs779114598
|
0.00004
|
NM_001042492.3(NF1):c.5925T>C (p.Leu1975=)
|
rs375776474
|
0.00004
|
NM_001042492.3(NF1):c.61-9T>C
|
rs780956522
|
0.00004
|
NM_001042492.3(NF1):c.6360T>C (p.Ala2120=)
|
rs371578074
|
0.00004
|
NM_001042492.3(NF1):c.6428-3C>T
|
rs374014162
|
0.00004
|
NM_001042492.3(NF1):c.6600A>C (p.Thr2200=)
|
rs747576584
|
0.00004
|
NM_001042492.3(NF1):c.6628T>C (p.Leu2210=)
|
rs138265293
|
0.00004
|
NM_001042492.3(NF1):c.6642+13A>C
|
rs771917283
|
0.00004
|
NM_001042492.3(NF1):c.6643-13T>C
|
rs764601493
|
0.00004
|
NM_001042492.3(NF1):c.6664A>G (p.Thr2222Ala)
|
rs745945481
|
0.00004
|
NM_001042492.3(NF1):c.6750T>C (p.Val2250=)
|
rs762075320
|
0.00004
|
NM_001042492.3(NF1):c.7528A>G (p.Thr2510Ala)
|
rs145794301
|
0.00004
|
NM_001042492.3(NF1):c.7739-12A>G
|
rs778057828
|
0.00004
|
NM_001042492.3(NF1):c.7881A>G (p.Val2627=)
|
rs756880349
|
0.00004
|
NM_001042492.3(NF1):c.8490C>A (p.Phe2830Leu)
|
rs760550772
|
0.00004
|
NM_001042492.3(NF1):c.889-17A>G
|
rs371265998
|
0.00004
|
NM_001042492.3(NF1):c.898C>T (p.Leu300=)
|
rs786201926
|
0.00004
|
NM_001042492.3(NF1):c.100G>A (p.Val34Ile)
|
rs772995929
|
0.00003
|
NM_001042492.3(NF1):c.1182T>C (p.Phe394=)
|
rs786202581
|
0.00003
|
NM_001042492.3(NF1):c.1185+10T>C
|
rs759048037
|
0.00003
|
NM_001042492.3(NF1):c.1261-16C>T
|
rs911130524
|
0.00003
|
NM_001042492.3(NF1):c.1296G>A (p.Val432=)
|
rs371599283
|
0.00003
|
NM_001042492.3(NF1):c.129A>C (p.Leu43=)
|
rs759576680
|
0.00003
|
NM_001042492.3(NF1):c.1308G>A (p.Ser436=)
|
rs765425127
|
0.00003
|
NM_001042492.3(NF1):c.1548C>G (p.Pro516=)
|
rs768883989
|
0.00003
|
NM_001042492.3(NF1):c.169G>A (p.Gly57Ser)
|
rs779727341
|
0.00003
|
NM_001042492.3(NF1):c.178A>G (p.Thr60Ala)
|
rs546729596
|
0.00003
|
NM_001042492.3(NF1):c.1884C>T (p.Tyr628=)
|
rs555635097
|
0.00003
|
NM_001042492.3(NF1):c.2181A>G (p.Ser727=)
|
rs1203116843
|
0.00003
|
NM_001042492.3(NF1):c.2409+17G>C
|
rs373870002
|
0.00003
|
NM_001042492.3(NF1):c.2916A>C (p.Leu972=)
|
rs1210119104
|
0.00003
|
NM_001042492.3(NF1):c.3315-8T>C
|
rs764783865
|
0.00003
|
NM_001042492.3(NF1):c.3604G>T (p.Ala1202Ser)
|
rs146641724
|
0.00003
|
NM_001042492.3(NF1):c.3871-14G>A
|
rs371895592
|
0.00003
|
NM_001042492.3(NF1):c.4362C>T (p.Leu1454=)
|
rs864622298
|
0.00003
|
NM_001042492.3(NF1):c.456A>G (p.Ala152=)
|
rs377481833
|
0.00003
|
NM_001042492.3(NF1):c.4835+5G>C
|
rs786201306
|
0.00003
|
NM_001042492.3(NF1):c.4878T>C (p.His1626=)
|
rs374589653
|
0.00003
|
NM_001042492.3(NF1):c.4942A>G (p.Thr1648Ala)
|
rs770558820
|
0.00003
|
NM_001042492.3(NF1):c.5269-18G>A
|
rs371616556
|
0.00003
|
NM_001042492.3(NF1):c.5424G>A (p.Thr1808=)
|
rs765841113
|
0.00003
|
NM_001042492.3(NF1):c.5553T>C (p.Pro1851=)
|
rs974310759
|
0.00003
|
NM_001042492.3(NF1):c.5649C>T (p.Thr1883=)
|
rs139696493
|
0.00003
|
NM_001042492.3(NF1):c.587-11G>T
|
rs1471659235
|
0.00003
|
NM_001042492.3(NF1):c.5910A>G (p.Arg1970=)
|
rs777021090
|
0.00003
|
NM_001042492.3(NF1):c.624G>T (p.Ala208=)
|
rs370184932
|
0.00003
|
NM_001042492.3(NF1):c.6642+4T>C
|
rs587781687
|
0.00003
|
NM_001042492.3(NF1):c.6643-19A>G
|
rs544476647
|
0.00003
|
NM_001042492.3(NF1):c.6696A>C (p.Leu2232=)
|
rs1265616273
|
0.00003
|
NM_001042492.3(NF1):c.696A>G (p.Thr232=)
|
rs368691517
|
0.00003
|
NM_001042492.3(NF1):c.7003A>G (p.Thr2335Ala)
|
rs370209920
|
0.00003
|
NM_001042492.3(NF1):c.7185A>G (p.Leu2395=)
|
rs1172296616
|
0.00003
|
NM_001042492.3(NF1):c.7189+7A>G
|
rs767151173
|
0.00003
|
NM_001042492.3(NF1):c.7457+17T>C
|
rs142843549
|
0.00003
|
NM_001042492.3(NF1):c.7458-7C>T
|
rs758106590
|
0.00003
|
NM_001042492.3(NF1):c.7758A>C (p.Ser2586=)
|
rs876658564
|
0.00003
|
NM_001042492.3(NF1):c.7910G>A (p.Arg2637Gln)
|
rs560262404
|
0.00003
|
NM_001042492.3(NF1):c.8216T>C (p.Ile2739Thr)
|
rs752541243
|
0.00003
|
NM_001042492.3(NF1):c.8223G>C (p.Thr2741=)
|
rs777755159
|
0.00003
|
NM_001042492.3(NF1):c.8394C>T (p.Asn2798=)
|
rs376136174
|
0.00003
|
NM_001042492.3(NF1):c.8479G>T (p.Ala2827Ser)
|
rs199878086
|
0.00003
|
NM_001042492.3(NF1):c.8484C>T (p.Gly2828=)
|
rs143289497
|
0.00003
|
NM_001042492.3(NF1):c.861C>T (p.Asp287=)
|
rs749949219
|
0.00003
|
NM_001042492.3(NF1):c.864G>C (p.Val288=)
|
rs201181517
|
0.00003
|
NM_001042492.3(NF1):c.105T>C (p.Ser35=)
|
rs370026303
|
0.00002
|
NM_001042492.3(NF1):c.1063-14T>C
|
rs538708444
|
0.00002
|
NM_001042492.3(NF1):c.1134C>T (p.Asp378=)
|
rs781367679
|
0.00002
|
NM_001042492.3(NF1):c.1392+14C>T
|
rs1185092258
|
0.00002
|
NM_001042492.3(NF1):c.1527+17G>A
|
rs751609545
|
0.00002
|
NM_001042492.3(NF1):c.1593A>G (p.Gln531=)
|
rs773712266
|
0.00002
|
NM_001042492.3(NF1):c.1620G>T (p.Glu540Asp)
|
rs766748586
|
0.00002
|
NM_001042492.3(NF1):c.1701A>G (p.Val567=)
|
rs786203819
|
0.00002
|
NM_001042492.3(NF1):c.171C>T (p.Gly57=)
|
rs876658709
|
0.00002
|
NM_001042492.3(NF1):c.1721+13T>G
|
rs777025327
|
0.00002
|
NM_001042492.3(NF1):c.1901T>C (p.Ile634Thr)
|
rs527563505
|
0.00002
|
NM_001042492.3(NF1):c.1917T>C (p.Asn639=)
|
rs876659976
|
0.00002
|
NM_001042492.3(NF1):c.2023G>A (p.Gly675Arg)
|
rs779546178
|
0.00002
|
NM_001042492.3(NF1):c.2224G>T (p.Ala742Ser)
|
rs587781896
|
0.00002
|
NM_001042492.3(NF1):c.2294G>A (p.Arg765His)
|
rs199474777
|
0.00002
|
NM_001042492.3(NF1):c.2547A>C (p.Gly849=)
|
rs748303121
|
0.00002
|
NM_001042492.3(NF1):c.2556C>T (p.Leu852=)
|
rs771308677
|
0.00002
|
NM_001042492.3(NF1):c.264T>C (p.Asp88=)
|
rs1359209770
|
0.00002
|
NM_001042492.3(NF1):c.3063A>C (p.Val1021=)
|
rs768611775
|
0.00002
|
NM_001042492.3(NF1):c.3114-16C>T
|
rs555538591
|
0.00002
|
NM_001042492.3(NF1):c.3197+14G>T
|
rs764474296
|
0.00002
|
NM_001042492.3(NF1):c.3345T>C (p.Asn1115=)
|
rs1443772199
|
0.00002
|
NM_001042492.3(NF1):c.3441T>C (p.Leu1147=)
|
rs747330799
|
0.00002
|
NM_001042492.3(NF1):c.3497-18T>A
|
rs766124844
|
0.00002
|
NM_001042492.3(NF1):c.3678T>C (p.Ala1226=)
|
rs776473273
|
0.00002
|
NM_001042492.3(NF1):c.3684C>T (p.Ala1228=)
|
rs200276071
|
0.00002
|
NM_001042492.3(NF1):c.3765A>G (p.Gln1255=)
|
rs766896025
|
0.00002
|
NM_001042492.3(NF1):c.3970A>G (p.Thr1324Ala)
|
rs189522993
|
0.00002
|
NM_001042492.3(NF1):c.3974+18A>G
|
rs182168562
|
0.00002
|
NM_001042492.3(NF1):c.4110+4T>C
|
rs587781700
|
0.00002
|
NM_001042492.3(NF1):c.4434T>C (p.Phe1478=)
|
rs1310523976
|
0.00002
|
NM_001042492.3(NF1):c.4632A>G (p.Ala1544=)
|
rs781741727
|
0.00002
|
NM_001042492.3(NF1):c.4665A>C (p.Ala1555=)
|
rs786201457
|
0.00002
|
NM_001042492.3(NF1):c.4668T>C (p.Asp1556=)
|
rs763874870
|
0.00002
|
NM_001042492.3(NF1):c.479+7G>A
|
rs778398666
|
0.00002
|
NM_001042492.3(NF1):c.5263A>G (p.Ile1755Val)
|
rs370181275
|
0.00002
|
NM_001042492.3(NF1):c.5289A>G (p.Gln1763=)
|
rs199703296
|
0.00002
|
NM_001042492.3(NF1):c.5426C>T (p.Pro1809Leu)
|
rs587782220
|
0.00002
|
NM_001042492.3(NF1):c.5574A>G (p.Ala1858=)
|
rs760561904
|
0.00002
|
NM_001042492.3(NF1):c.5676A>G (p.Leu1892=)
|
rs876658130
|
0.00002
|
NM_001042492.3(NF1):c.587-20A>T
|
rs776533188
|
0.00002
|
NM_001042492.3(NF1):c.5955A>G (p.Glu1985=)
|
rs369043956
|
0.00002
|
NM_001042492.3(NF1):c.6060A>G (p.Thr2020=)
|
rs761889172
|
0.00002
|
NM_001042492.3(NF1):c.623C>T (p.Ala208Val)
|
rs758624540
|
0.00002
|
NM_001042492.3(NF1):c.6264G>A (p.Leu2088=)
|
rs762751192
|
0.00002
|
NM_001042492.3(NF1):c.628T>C (p.Leu210=)
|
rs757812365
|
0.00002
|
NM_001042492.3(NF1):c.6378C>T (p.Val2126=)
|
rs760941036
|
0.00002
|
NM_001042492.3(NF1):c.6427+10A>G
|
rs763852229
|
0.00002
|
NM_001042492.3(NF1):c.6456T>C (p.Ser2152=)
|
rs776897972
|
0.00002
|
NM_001042492.3(NF1):c.6547C>A (p.Arg2183=)
|
rs760177417
|
0.00002
|
NM_001042492.3(NF1):c.6624T>C (p.Ala2208=)
|
rs746061888
|
0.00002
|
NM_001042492.3(NF1):c.6678G>A (p.Leu2226=)
|
rs959023829
|
0.00002
|
NM_001042492.3(NF1):c.6851C>T (p.Thr2284Ile)
|
rs747881072
|
0.00002
|
NM_001042492.3(NF1):c.7063-6T>C
|
rs780593077
|
0.00002
|
NM_001042492.3(NF1):c.7170G>A (p.Leu2390=)
|
rs751081026
|
0.00002
|
NM_001042492.3(NF1):c.7189+8A>G
|
rs750100211
|
0.00002
|
NM_001042492.3(NF1):c.7275T>C (p.Asn2425=)
|
rs1060503904
|
0.00002
|
NM_001042492.3(NF1):c.730+10C>T
|
rs750468471
|
0.00002
|
NM_001042492.3(NF1):c.7457+20T>A
|
rs778619964
|
0.00002
|
NM_001042492.3(NF1):c.7457+8G>T
|
rs376147282
|
0.00002
|
NM_001042492.3(NF1):c.7615+7T>C
|
rs779078444
|
0.00002
|
NM_001042492.3(NF1):c.7851G>T (p.Ala2617=)
|
rs751273275
|
0.00002
|
NM_001042492.3(NF1):c.7869+6G>A
|
rs864622318
|
0.00002
|
NM_001042492.3(NF1):c.8113+11G>A
|
rs760053840
|
0.00002
|
NM_001042492.3(NF1):c.8139G>A (p.Arg2713=)
|
rs139527415
|
0.00002
|
NM_001042492.3(NF1):c.8160+9A>C
|
rs997202389
|
0.00002
|
NM_001042492.3(NF1):c.8385C>T (p.Asp2795=)
|
rs144635489
|
0.00002
|
NM_001042492.3(NF1):c.8456G>A (p.Ser2819Asn)
|
rs934837854
|
0.00002
|
NM_001042492.3(NF1):c.889-20G>A
|
rs765690267
|
0.00002
|
NM_001042492.3(NF1):c.1062+7T>C
|
rs979521240
|
0.00001
|
NM_001042492.3(NF1):c.1063-16G>T
|
rs200652866
|
0.00001
|
NM_001042492.3(NF1):c.1089A>G (p.Pro363=)
|
rs757508086
|
0.00001
|
NM_001042492.3(NF1):c.1170C>T (p.Asn390=)
|
rs769004910
|
0.00001
|
NM_001042492.3(NF1):c.1173C>T (p.Asn391=)
|
rs367986994
|
0.00001
|
NM_001042492.3(NF1):c.1176A>G (p.Gln392=)
|
rs566220983
|
0.00001
|
NM_001042492.3(NF1):c.1185+7G>A
|
rs1322791959
|
0.00001
|
NM_001042492.3(NF1):c.1185+8C>G
|
rs1041153819
|
0.00001
|
NM_001042492.3(NF1):c.1186-12C>G
|
rs1473811436
|
0.00001
|
NM_001042492.3(NF1):c.1186-4A>G
|
rs769295150
|
0.00001
|
NM_001042492.3(NF1):c.1212T>A (p.Ser404=)
|
rs1757298995
|
0.00001
|
NM_001042492.3(NF1):c.1215A>G (p.Thr405=)
|
rs1405569320
|
0.00001
|
NM_001042492.3(NF1):c.1248A>T (p.Arg416=)
|
rs1403345664
|
0.00001
|
NM_001042492.3(NF1):c.1263C>T (p.Ser421=)
|
rs767410768
|
0.00001
|
NM_001042492.3(NF1):c.1290T>C (p.Asp430=)
|
rs766688203
|
0.00001
|
NM_001042492.3(NF1):c.1293T>A (p.Ala431=)
|
rs2066619379
|
0.00001
|
NM_001042492.3(NF1):c.132C>A (p.Ile44=)
|
rs765778199
|
0.00001
|
NM_001042492.3(NF1):c.1356A>G (p.Gln452=)
|
rs1324833228
|
0.00001
|
NM_001042492.3(NF1):c.1371C>T (p.His457=)
|
rs1318894606
|
0.00001
|
NM_001042492.3(NF1):c.1392+13dup
|
rs2066623179
|
0.00001
|
NM_001042492.3(NF1):c.1392+16A>G
|
rs760591025
|
0.00001
|
NM_001042492.3(NF1):c.1392+7T>C
|
rs773017698
|
0.00001
|
NM_001042492.3(NF1):c.1392G>A (p.Pro464=)
|
rs201604273
|
0.00001
|
NM_001042492.3(NF1):c.1393-16T>C
|
rs776335573
|
0.00001
|
NM_001042492.3(NF1):c.1413A>G (p.Lys471=)
|
rs1309932338
|
0.00001
|
NM_001042492.3(NF1):c.144A>G (p.Lys48=)
|
rs763375105
|
0.00001
|
NM_001042492.3(NF1):c.1479C>G (p.Leu493=)
|
rs139653388
|
0.00001
|
NM_001042492.3(NF1):c.1506A>G (p.Ala502=)
|
rs1597698488
|
0.00001
|
NM_001042492.3(NF1):c.1527+7A>T
|
rs1555612295
|
0.00001
|
NM_001042492.3(NF1):c.1541A>C (p.Gln514Pro)
|
rs775369084
|
0.00001
|
NM_001042492.3(NF1):c.1545G>A (p.Gly515=)
|
rs876658203
|
0.00001
|
NM_001042492.3(NF1):c.1587C>T (p.Leu529=)
|
rs786203041
|
0.00001
|
NM_001042492.3(NF1):c.1642-12T>A
|
rs2066926774
|
0.00001
|
NM_001042492.3(NF1):c.1642-15T>G
|
rs375675505
|
0.00001
|
NM_001042492.3(NF1):c.1662G>T (p.Gln554His)
|
rs147594815
|
0.00001
|
NM_001042492.3(NF1):c.1680G>A (p.Leu560=)
|
rs773225166
|
0.00001
|
NM_001042492.3(NF1):c.1722-5T>C
|
rs1458980212
|
0.00001
|
NM_001042492.3(NF1):c.1801C>T (p.Arg601Trp)
|
rs587782592
|
0.00001
|
NM_001042492.3(NF1):c.1846-16A>G
|
rs373859084
|
0.00001
|
NM_001042492.3(NF1):c.1875C>T (p.Leu625=)
|
rs974172157
|
0.00001
|
NM_001042492.3(NF1):c.1926A>G (p.Gln642=)
|
rs774806150
|
0.00001
|
NM_001042492.3(NF1):c.1944A>G (p.Glu648=)
|
rs1465016257
|
0.00001
|
NM_001042492.3(NF1):c.1956T>G (p.Arg652=)
|
rs1429522155
|
0.00001
|
NM_001042492.3(NF1):c.1974C>A (p.Leu658=)
|
rs751318331
|
0.00001
|
NM_001042492.3(NF1):c.1974C>T (p.Leu658=)
|
rs751318331
|
0.00001
|
NM_001042492.3(NF1):c.1995C>T (p.Ser665=)
|
rs1352726800
|
0.00001
|
NM_001042492.3(NF1):c.2001+9C>G
|
rs755501652
|
0.00001
|
NM_001042492.3(NF1):c.2002-14C>T
|
rs928979051
|
0.00001
|
NM_001042492.3(NF1):c.2002-19T>G
|
rs774181772
|
0.00001
|
NM_001042492.3(NF1):c.2002-8A>T
|
rs1318674321
|
0.00001
|
NM_001042492.3(NF1):c.2010A>G (p.Ala670=)
|
rs786202440
|
0.00001
|
NM_001042492.3(NF1):c.2019C>T (p.Cys673=)
|
rs146624509
|
0.00001
|
NM_001042492.3(NF1):c.2031C>T (p.Pro677=)
|
rs753177596
|
0.00001
|
NM_001042492.3(NF1):c.205-20C>T
|
rs1203386469
|
0.00001
|
NM_001042492.3(NF1):c.2061A>G (p.Leu687=)
|
rs143671377
|
0.00001
|
NM_001042492.3(NF1):c.2097C>T (p.Asp699=)
|
rs547905840
|
0.00001
|
NM_001042492.3(NF1):c.2118C>T (p.Ala706=)
|
rs1156646242
|
0.00001
|
NM_001042492.3(NF1):c.2211A>G (p.Thr737=)
|
rs1178560430
|
0.00001
|
NM_001042492.3(NF1):c.2251+12T>C
|
rs1177575840
|
0.00001
|
NM_001042492.3(NF1):c.2251+15T>G
|
rs2067021817
|
0.00001
|
NM_001042492.3(NF1):c.2251+17G>T
|
rs760501109
|
0.00001
|
NM_001042492.3(NF1):c.2251+5A>G
|
rs786201934
|
0.00001
|
NM_001042492.3(NF1):c.2251+9G>T
|
rs772014402
|
0.00001
|
NM_001042492.3(NF1):c.2252-12G>A
|
rs747671446
|
0.00001
|
NM_001042492.3(NF1):c.2252-16del
|
rs1199960719
|
0.00001
|
NM_001042492.3(NF1):c.2252-18G>T
|
rs754583248
|
0.00001
|
NM_001042492.3(NF1):c.2301G>A (p.Glu767=)
|
rs746127097
|
0.00001
|
NM_001042492.3(NF1):c.2326-10T>G
|
rs1555613971
|
0.00001
|
NM_001042492.3(NF1):c.2326-12C>T
|
rs1028639542
|
0.00001
|
NM_001042492.3(NF1):c.2326-9T>A
|
rs181838967
|
0.00001
|
NM_001042492.3(NF1):c.234T>C (p.Asn78=)
|
rs876658354
|
0.00001
|
NM_001042492.3(NF1):c.2355A>G (p.Glu785=)
|
rs876658622
|
0.00001
|
NM_001042492.3(NF1):c.235T>C (p.Leu79=)
|
rs764855221
|
0.00001
|
NM_001042492.3(NF1):c.2361A>G (p.Ala787=)
|
rs371589922
|
0.00001
|
NM_001042492.3(NF1):c.2364A>G (p.Thr788=)
|
rs1240233000
|
0.00001
|
NM_001042492.3(NF1):c.2409+5G>A
|
rs763688567
|
0.00001
|
NM_001042492.3(NF1):c.2410-18C>T
|
rs533210843
|
0.00001
|
NM_001042492.3(NF1):c.2410-8G>A
|
rs1060500270
|
0.00001
|
NM_001042492.3(NF1):c.2454C>G (p.Ser818=)
|
rs763634947
|
0.00001
|
NM_001042492.3(NF1):c.2490C>T (p.Asp830=)
|
rs786201629
|
0.00001
|
NM_001042492.3(NF1):c.2496C>T (p.Asp832=)
|
rs1227092939
|
0.00001
|
NM_001042492.3(NF1):c.2502A>G (p.Leu834=)
|
rs953405312
|
0.00001
|
NM_001042492.3(NF1):c.2517C>T (p.Asn839=)
|
rs876659543
|
0.00001
|
NM_001042492.3(NF1):c.2550G>T (p.Val850=)
|
rs772148227
|
0.00001
|
NM_001042492.3(NF1):c.2619T>C (p.Arg873=)
|
rs766212733
|
0.00001
|
NM_001042492.3(NF1):c.2640G>A (p.Val880=)
|
rs786202443
|
0.00001
|
NM_001042492.3(NF1):c.2649A>C (p.Ser883=)
|
rs2067070240
|
0.00001
|
NM_001042492.3(NF1):c.2658C>T (p.Asn886=)
|
rs781549970
|
0.00001
|
NM_001042492.3(NF1):c.2712T>C (p.Cys904=)
|
rs372963561
|
0.00001
|
NM_001042492.3(NF1):c.2736A>G (p.Gln912=)
|
rs760097413
|
0.00001
|
NM_001042492.3(NF1):c.2850+10T>G
|
rs771916458
|
0.00001
|
NM_001042492.3(NF1):c.2850+11C>A
|
rs1426490458
|
0.00001
|
NM_001042492.3(NF1):c.2851-11T>C
|
rs1332945782
|
0.00001
|
NM_001042492.3(NF1):c.288+12G>A
|
rs1321140955
|
0.00001
|
NM_001042492.3(NF1):c.2880T>C (p.Phe960=)
|
rs1377177645
|
0.00001
|
NM_001042492.3(NF1):c.289-12T>C
|
rs1486449114
|
0.00001
|
NM_001042492.3(NF1):c.289-20T>C
|
rs763991276
|
0.00001
|
NM_001042492.3(NF1):c.289-4T>G
|
rs1258767746
|
0.00001
|
NM_001042492.3(NF1):c.289-7A>G
|
rs751506868
|
0.00001
|
NM_001042492.3(NF1):c.294A>G (p.Pro98=)
|
rs1445884708
|
0.00001
|
NM_001042492.3(NF1):c.297G>A (p.Lys99=)
|
rs876658428
|
0.00001
|
NM_001042492.3(NF1):c.2991-12A>G
|
rs760838737
|
0.00001
|
NM_001042492.3(NF1):c.2991-6A>G
|
rs1191095886
|
0.00001
|
NM_001042492.3(NF1):c.2991-8C>G
|
rs2067089793
|
0.00001
|
NM_001042492.3(NF1):c.2991G>A (p.Arg997=)
|
rs755501749
|
0.00001
|
NM_001042492.3(NF1):c.3000T>C (p.Arg1000=)
|
rs764332485
|
0.00001
|
NM_001042492.3(NF1):c.3024A>G (p.Ala1008=)
|
rs779490777
|
0.00001
|
NM_001042492.3(NF1):c.3039G>A (p.Thr1013=)
|
rs876660168
|
0.00001
|
NM_001042492.3(NF1):c.3045G>A (p.Leu1015=)
|
rs926335233
|
0.00001
|
NM_001042492.3(NF1):c.3111T>C (p.Phe1037=)
|
rs200240170
|
0.00001
|
NM_001042492.3(NF1):c.3113+9T>C
|
rs1181782378
|
0.00001
|
NM_001042492.3(NF1):c.3114-15T>C
|
rs748777693
|
0.00001
|
NM_001042492.3(NF1):c.3197+17C>T
|
rs751894967
|
0.00001
|
NM_001042492.3(NF1):c.3198-4_3198-3dup
|
rs1555614809
|
0.00001
|
NM_001042492.3(NF1):c.3198-5T>C
|
rs587782639
|
0.00001
|
NM_001042492.3(NF1):c.3198-5_3198-3dup
|
rs1227046003
|
0.00001
|
NM_001042492.3(NF1):c.3198-9T>A
|
rs1316749264
|
0.00001
|
NM_001042492.3(NF1):c.3246T>C (p.Gly1082=)
|
rs876660670
|
0.00001
|
NM_001042492.3(NF1):c.3285G>A (p.Leu1095=)
|
rs774759676
|
0.00001
|
NM_001042492.3(NF1):c.3303G>A (p.Gln1101=)
|
rs876659944
|
0.00001
|
NM_001042492.3(NF1):c.3315-5C>T
|
rs1266211447
|
0.00001
|
NM_001042492.3(NF1):c.3390G>A (p.Arg1130=)
|
rs999720392
|
0.00001
|
NM_001042492.3(NF1):c.3395G>A (p.Arg1132His)
|
rs778920556
|
0.00001
|
NM_001042492.3(NF1):c.3454T>C (p.Leu1152=)
|
rs771258163
|
0.00001
|
NM_001042492.3(NF1):c.3496+17G>A
|
rs1249632527
|
0.00001
|
NM_001042492.3(NF1):c.3496+8C>T
|
rs754087844
|
0.00001
|
NM_001042492.3(NF1):c.3497-6C>T
|
rs2067140852
|
0.00001
|
NM_001042492.3(NF1):c.354C>T (p.Cys118=)
|
rs768777585
|
0.00001
|
NM_001042492.3(NF1):c.3564A>G (p.Gln1188=)
|
rs777859444
|
0.00001
|
NM_001042492.3(NF1):c.3601T>C (p.Leu1201=)
|
rs1422595428
|
0.00001
|
NM_001042492.3(NF1):c.3619A>C (p.Arg1207=)
|
rs202208560
|
0.00001
|
NM_001042492.3(NF1):c.3631C>T (p.Leu1211=)
|
rs876658125
|
0.00001
|
NM_001042492.3(NF1):c.366C>T (p.His122=)
|
rs138952888
|
0.00001
|
NM_001042492.3(NF1):c.3708+10T>C
|
rs757762958
|
0.00001
|
NM_001042492.3(NF1):c.3708+20G>A
|
rs756565212
|
0.00001
|
NM_001042492.3(NF1):c.3709-16T>C
|
rs527320617
|
0.00001
|
NM_001042492.3(NF1):c.3709-7T>C
|
rs1196733035
|
0.00001
|
NM_001042492.3(NF1):c.3709-8G>C
|
rs767650263
|
0.00001
|
NM_001042492.3(NF1):c.3732T>A (p.Val1244=)
|
rs756653022
|
0.00001
|
NM_001042492.3(NF1):c.3822C>T (p.Leu1274=)
|
rs1489818104
|
0.00001
|
NM_001042492.3(NF1):c.3843C>T (p.Ala1281=)
|
rs150426576
|
0.00001
|
NM_001042492.3(NF1):c.3871-11C>T
|
rs184910144
|
0.00001
|
NM_001042492.3(NF1):c.3871-17T>C
|
rs772406340
|
0.00001
|
NM_001042492.3(NF1):c.3871-18A>G
|
rs748424913
|
0.00001
|
NM_001042492.3(NF1):c.3871-20C>A
|
rs778536665
|
0.00001
|
NM_001042492.3(NF1):c.3871-4G>C
|
rs558421445
|
0.00001
|
NM_001042492.3(NF1):c.3891A>G (p.Leu1297=)
|
rs753036396
|
0.00001
|
NM_001042492.3(NF1):c.3900C>T (p.Leu1300=)
|
rs1597722945
|
0.00001
|
NM_001042492.3(NF1):c.3916C>A (p.Arg1306=)
|
rs376576925
|
0.00001
|
NM_001042492.3(NF1):c.3945A>G (p.Gln1315=)
|
rs1365148212
|
0.00001
|
NM_001042492.3(NF1):c.3974+19T>C
|
rs372690119
|
0.00001
|
NM_001042492.3(NF1):c.3974+9T>A
|
rs368586596
|
0.00001
|
NM_001042492.3(NF1):c.3975-4G>A
|
rs760207624
|
0.00001
|
NM_001042492.3(NF1):c.3987A>G (p.Ser1329=)
|
rs753270018
|
0.00001
|
NM_001042492.3(NF1):c.4017C>T (p.Leu1339=)
|
rs778993658
|
0.00001
|
NM_001042492.3(NF1):c.4032A>G (p.Glu1344=)
|
rs1555617330
|
0.00001
|
NM_001042492.3(NF1):c.4044T>C (p.His1348=)
|
rs1315375188
|
0.00001
|
NM_001042492.3(NF1):c.4055G>C (p.Ser1352Thr)
|
rs876660908
|
0.00001
|
NM_001042492.3(NF1):c.4065A>G (p.Ser1355=)
|
rs777669937
|
0.00001
|
NM_001042492.3(NF1):c.4071C>T (p.Phe1357=)
|
rs747272290
|
0.00001
|
NM_001042492.3(NF1):c.4110+14T>C
|
rs1019229165
|
0.00001
|
NM_001042492.3(NF1):c.4110+15dup
|
rs763846160
|
0.00001
|
NM_001042492.3(NF1):c.4110+19_4110+20del
|
rs1386021083
|
0.00001
|
NM_001042492.3(NF1):c.4110+3A>G
|
rs774669878
|
0.00001
|
NM_001042492.3(NF1):c.4120C>T (p.His1374Tyr)
|
rs764123241
|
0.00001
|
NM_001042492.3(NF1):c.414C>G (p.Ala138=)
|
rs1597635949
|
0.00001
|
NM_001042492.3(NF1):c.417T>C (p.Ser139=)
|
rs762434870
|
0.00001
|
NM_001042492.3(NF1):c.4206C>T (p.Ile1402=)
|
rs864622406
|
0.00001
|
NM_001042492.3(NF1):c.4212A>G (p.Ala1404=)
|
rs376825167
|
0.00001
|
NM_001042492.3(NF1):c.4230C>T (p.Phe1410=)
|
rs750213850
|
0.00001
|
NM_001042492.3(NF1):c.4272A>T (p.Ala1424=)
|
rs753182376
|
0.00001
|
NM_001042492.3(NF1):c.4290G>A (p.Lys1430=)
|
rs373086572
|
0.00001
|
NM_001042492.3(NF1):c.4296A>G (p.Pro1432=)
|
rs864622492
|
0.00001
|
NM_001042492.3(NF1):c.4332+18T>C
|
rs1482009295
|
0.00001
|
NM_001042492.3(NF1):c.4333-10T>C
|
rs1254791952
|
0.00001
|
NM_001042492.3(NF1):c.4333-14G>C
|
rs2067634788
|
0.00001
|
NM_001042492.3(NF1):c.4333-18C>A
|
rs1467425728
|
0.00001
|
NM_001042492.3(NF1):c.4333-4G>A
|
rs372709098
|
0.00001
|
NM_001042492.3(NF1):c.4368A>T (p.Thr1456=)
|
rs876659577
|
0.00001
|
NM_001042492.3(NF1):c.4431-13T>G
|
rs778635411
|
0.00001
|
NM_001042492.3(NF1):c.4431-17A>T
|
rs754657048
|
0.00001
|
NM_001042492.3(NF1):c.4578-5T>C
|
rs772759508
|
0.00001
|
NM_001042492.3(NF1):c.4593T>C (p.Val1531=)
|
rs773315342
|
0.00001
|
NM_001042492.3(NF1):c.462T>C (p.Phe154=)
|
rs750268216
|
0.00001
|
NM_001042492.3(NF1):c.4635C>T (p.Tyr1545=)
|
rs754023358
|
0.00001
|
NM_001042492.3(NF1):c.4671A>G (p.Thr1557=)
|
rs876658990
|
0.00001
|
NM_001042492.3(NF1):c.468C>T (p.Arg156=)
|
rs779074793
|
0.00001
|
NM_001042492.3(NF1):c.4725-13A>G
|
rs759742216
|
0.00001
|
NM_001042492.3(NF1):c.4737T>C (p.His1579=)
|
rs1233883371
|
0.00001
|
NM_001042492.3(NF1):c.479+14T>A
|
rs747431601
|
0.00001
|
NM_001042492.3(NF1):c.4830A>G (p.Ala1610=)
|
rs552732964
|
0.00001
|
NM_001042492.3(NF1):c.4835+10A>G
|
rs1248224239
|
0.00001
|
NM_001042492.3(NF1):c.4835+11C>T
|
rs2067767894
|
0.00001
|
NM_001042492.3(NF1):c.4835+17T>G
|
rs1257470053
|
0.00001
|
NM_001042492.3(NF1):c.4836G>A (p.Arg1612=)
|
rs1555533268
|
0.00001
|
NM_001042492.3(NF1):c.4860T>C (p.Gly1620=)
|
rs864622747
|
0.00001
|
NM_001042492.3(NF1):c.4887G>A (p.Leu1629=)
|
rs368638966
|
0.00001
|
NM_001042492.3(NF1):c.4891T>C (p.Leu1631=)
|
rs1455791933
|
0.00001
|
NM_001042492.3(NF1):c.4896G>A (p.Lys1632=)
|
rs1266231117
|
0.00001
|
NM_001042492.3(NF1):c.4899A>G (p.Pro1633=)
|
rs876658422
|
0.00001
|
NM_001042492.3(NF1):c.4914A>G (p.Pro1638=)
|
rs186482097
|
0.00001
|
NM_001042492.3(NF1):c.4944C>T (p.Thr1648=)
|
rs759291615
|
0.00001
|
NM_001042492.3(NF1):c.5004C>G (p.Gly1668=)
|
rs751603479
|
0.00001
|
NM_001042492.3(NF1):c.5007T>C (p.Phe1669=)
|
rs761807609
|
0.00001
|
NM_001042492.3(NF1):c.5019C>T (p.Asn1673=)
|
rs767699634
|
0.00001
|
NM_001042492.3(NF1):c.5025C>T (p.Ser1675=)
|
rs17878418
|
0.00001
|
NM_001042492.3(NF1):c.5028A>G (p.Ala1676=)
|
rs778817599
|
0.00001
|
NM_001042492.3(NF1):c.5067C>T (p.Tyr1689=)
|
rs756708811
|
0.00001
|
NM_001042492.3(NF1):c.5098C>T (p.Leu1700Phe)
|
rs775786295
|
0.00001
|
NM_001042492.3(NF1):c.5145G>A (p.Leu1715=)
|
rs762436173
|
0.00001
|
NM_001042492.3(NF1):c.5160G>T (p.Glu1720Asp)
|
rs773378630
|
0.00001
|
NM_001042492.3(NF1):c.5209C>T (p.Leu1737=)
|
rs1341372934
|
0.00001
|
NM_001042492.3(NF1):c.5229T>C (p.Ala1743=)
|
rs876657546
|
0.00001
|
NM_001042492.3(NF1):c.525T>C (p.His175=)
|
rs750358089
|
0.00001
|
NM_001042492.3(NF1):c.5268+7T>C
|
rs772663607
|
0.00001
|
NM_001042492.3(NF1):c.5268+9C>T
|
rs956188716
|
0.00001
|
NM_001042492.3(NF1):c.5269-14C>T
|
rs753463683
|
0.00001
|
NM_001042492.3(NF1):c.5269-19C>T
|
rs755620051
|
0.00001
|
NM_001042492.3(NF1):c.5271T>C (p.Val1757=)
|
rs1399095966
|
0.00001
|
NM_001042492.3(NF1):c.5280T>C (p.Thr1760=)
|
rs779104728
|
0.00001
|
NM_001042492.3(NF1):c.5286C>T (p.Val1762=)
|
rs748566277
|
0.00001
|
NM_001042492.3(NF1):c.5290G>A (p.Val1764Ile)
|
rs778427434
|
0.00001
|
NM_001042492.3(NF1):c.5391C>T (p.Asn1797=)
|
rs1449178444
|
0.00001
|
NM_001042492.3(NF1):c.5407A>G (p.Ile1803Val)
|
rs559910904
|
0.00001
|
NM_001042492.3(NF1):c.5436C>T (p.Phe1812=)
|
rs864622640
|
0.00001
|
NM_001042492.3(NF1):c.5455G>A (p.Ala1819Thr)
|
rs368998534
|
0.00001
|
NM_001042492.3(NF1):c.5490C>T (p.Arg1830=)
|
rs1245095693
|
0.00001
|
NM_001042492.3(NF1):c.5502A>G (p.Ser1834=)
|
rs747487014
|
0.00001
|
NM_001042492.3(NF1):c.5508C>T (p.Pro1836=)
|
rs786202557
|
0.00001
|
NM_001042492.3(NF1):c.5520C>A (p.Pro1840=)
|
rs786201638
|
0.00001
|
NM_001042492.3(NF1):c.5547T>C (p.Asp1849=)
|
rs1555533634
|
0.00001
|
NM_001042492.3(NF1):c.5571C>T (p.Ile1857=)
|
rs771837192
|
0.00001
|
NM_001042492.3(NF1):c.5610-12G>A
|
rs749499960
|
0.00001
|
NM_001042492.3(NF1):c.5610-4C>G
|
rs1419030713
|
0.00001
|
NM_001042492.3(NF1):c.5610-7C>T
|
rs553657123
|
0.00001
|
NM_001042492.3(NF1):c.5715C>T (p.Thr1905=)
|
rs1060503892
|
0.00001
|
NM_001042492.3(NF1):c.5745G>T (p.Leu1915=)
|
rs1234091349
|
0.00001
|
NM_001042492.3(NF1):c.575G>A (p.Arg192Gln)
|
rs587781670
|
0.00001
|
NM_001042492.3(NF1):c.5769G>A (p.Thr1923=)
|
rs780145472
|
0.00001
|
NM_001042492.3(NF1):c.5772A>G (p.Leu1924=)
|
rs1337615274
|
0.00001
|
NM_001042492.3(NF1):c.5812+9T>C
|
rs1324552702
|
0.00001
|
NM_001042492.3(NF1):c.5813-9T>G
|
rs778521387
|
0.00001
|
NM_001042492.3(NF1):c.5820A>G (p.Glu1940=)
|
rs1387817581
|
0.00001
|
NM_001042492.3(NF1):c.587-3C>T
|
rs375188075
|
0.00001
|
NM_001042492.3(NF1):c.594A>T (p.Ala198=)
|
rs138411879
|
0.00001
|
NM_001042492.3(NF1):c.5958A>G (p.Lys1986=)
|
rs1216926117
|
0.00001
|
NM_001042492.3(NF1):c.6006+17A>G
|
rs748186225
|
0.00001
|
NM_001042492.3(NF1):c.6006+18A>G
|
rs757836518
|
0.00001
|
NM_001042492.3(NF1):c.6006+4T>C
|
rs754909198
|
0.00001
|
NM_001042492.3(NF1):c.6007-6A>G
|
rs775960363
|
0.00001
|
NM_001042492.3(NF1):c.6012A>G (p.Thr2004=)
|
rs1232336416
|
0.00001
|
NM_001042492.3(NF1):c.6111T>C (p.Ala2037=)
|
rs876658898
|
0.00001
|
NM_001042492.3(NF1):c.6117T>C (p.Ala2039=)
|
rs2069671176
|
0.00001
|
NM_001042492.3(NF1):c.6189A>G (p.Leu2063=)
|
rs1060503911
|
0.00001
|
NM_001042492.3(NF1):c.6192T>C (p.Ser2064=)
|
rs765094377
|
0.00001
|
NM_001042492.3(NF1):c.6297T>C (p.His2099=)
|
rs751517473
|
0.00001
|
NM_001042492.3(NF1):c.6328T>C (p.Leu2110=)
|
rs780230966
|
0.00001
|
NM_001042492.3(NF1):c.6345G>A (p.Pro2115=)
|
rs779475182
|
0.00001
|
NM_001042492.3(NF1):c.6420T>C (p.His2140=)
|
rs762803346
|
0.00001
|
NM_001042492.3(NF1):c.6438G>A (p.Lys2146=)
|
rs1172220920
|
0.00001
|
NM_001042492.3(NF1):c.6442G>A (p.Val2148Ile)
|
rs770993581
|
0.00001
|
NM_001042492.3(NF1):c.645C>T (p.Ser215=)
|
rs746163138
|
0.00001
|
NM_001042492.3(NF1):c.6480A>G (p.Lys2160=)
|
rs1060503918
|
0.00001
|
NM_001042492.3(NF1):c.6546C>T (p.Tyr2182=)
|
rs876659768
|
0.00001
|
NM_001042492.3(NF1):c.6549G>A (p.Arg2183=)
|
rs1028183407
|
0.00001
|
NM_001042492.3(NF1):c.655-3T>C
|
rs746584147
|
0.00001
|
NM_001042492.3(NF1):c.6552C>T (p.Asp2184=)
|
rs376808264
|
0.00001
|
NM_001042492.3(NF1):c.6558A>C (p.Ser2186=)
|
rs753509749
|
0.00001
|
NM_001042492.3(NF1):c.6561C>T (p.Phe2187=)
|
rs2069706640
|
0.00001
|
NM_001042492.3(NF1):c.6585G>A (p.Glu2195=)
|
rs202151774
|
0.00001
|
NM_001042492.3(NF1):c.6665C>T (p.Thr2222Met)
|
rs369803831
|
0.00001
|
NM_001042492.3(NF1):c.6666G>A (p.Thr2222=)
|
rs780247942
|
0.00001
|
NM_001042492.3(NF1):c.6672G>A (p.Lys2224=)
|
rs771835288
|
0.00001
|
NM_001042492.3(NF1):c.6704+19A>G
|
rs761477107
|
0.00001
|
NM_001042492.3(NF1):c.6729C>G (p.Ser2243=)
|
rs1337738132
|
0.00001
|
NM_001042492.3(NF1):c.6783T>C (p.His2261=)
|
rs1311531049
|
0.00001
|
NM_001042492.3(NF1):c.6819+4C>T
|
rs755135948
|
0.00001
|
NM_001042492.3(NF1):c.6819+7G>C
|
rs200532525
|
0.00001
|
NM_001042492.3(NF1):c.681T>C (p.Tyr227=)
|
rs745804540
|
0.00001
|
NM_001042492.3(NF1):c.6834C>T (p.Cys2278=)
|
rs149603406
|
0.00001
|
NM_001042492.3(NF1):c.6837A>C (p.Leu2279Phe)
|
rs144287929
|
0.00001
|
NM_001042492.3(NF1):c.6879T>C (p.Ala2293=)
|
rs761125983
|
0.00001
|
NM_001042492.3(NF1):c.6891A>G (p.Ala2297=)
|
rs776626153
|
0.00001
|
NM_001042492.3(NF1):c.6921+19A>G
|
rs1204201396
|
0.00001
|
NM_001042492.3(NF1):c.6922-13T>C
|
rs199901687
|
0.00001
|
NM_001042492.3(NF1):c.6922-8T>C
|
rs191255643
|
0.00001
|
NM_001042492.3(NF1):c.6922-9C>G
|
rs760085677
|
0.00001
|
NM_001042492.3(NF1):c.6927G>A (p.Ser2309=)
|
rs763028083
|
0.00001
|
NM_001042492.3(NF1):c.6945C>G (p.Leu2315=)
|
rs751893971
|
0.00001
|
NM_001042492.3(NF1):c.7005C>T (p.Thr2335=)
|
rs2040793
|
0.00001
|
NM_001042492.3(NF1):c.7014T>C (p.Leu2338=)
|
rs1309666510
|
0.00001
|
NM_001042492.3(NF1):c.7020A>G (p.Gln2340=)
|
rs777399429
|
0.00001
|
NM_001042492.3(NF1):c.7023C>T (p.Asn2341=)
|
rs1208205873
|
0.00001
|
NM_001042492.3(NF1):c.7032T>C (p.Thr2344=)
|
rs1201730858
|
0.00001
|
NM_001042492.3(NF1):c.7044C>T (p.Leu2348=)
|
rs1350755921
|
0.00001
|
NM_001042492.3(NF1):c.7062+8A>G
|
rs864622468
|
0.00001
|
NM_001042492.3(NF1):c.7071G>A (p.Glu2357=)
|
rs1368077280
|
0.00001
|
NM_001042492.3(NF1):c.7074A>G (p.Glu2358=)
|
rs1388098913
|
0.00001
|
NM_001042492.3(NF1):c.7086A>C (p.Ala2362=)
|
rs1241296625
|
0.00001
|
NM_001042492.3(NF1):c.7092G>A (p.Arg2364=)
|
rs762081710
|
0.00001
|
NM_001042492.3(NF1):c.7110C>T (p.His2370=)
|
rs201881479
|
0.00001
|
NM_001042492.3(NF1):c.7149C>T (p.Asn2383=)
|
rs2069868799
|
0.00001
|
NM_001042492.3(NF1):c.7190-4G>A
|
rs1414521347
|
0.00001
|
NM_001042492.3(NF1):c.7190-7T>G
|
rs779081215
|
0.00001
|
NM_001042492.3(NF1):c.7191G>A (p.Gly2397=)
|
rs773474652
|
0.00001
|
NM_001042492.3(NF1):c.7298C>T (p.Thr2433Ile)
|
rs755749772
|
0.00001
|
NM_001042492.3(NF1):c.7305C>T (p.Ser2435=)
|
rs369754180
|
0.00001
|
NM_001042492.3(NF1):c.731-15A>G
|
rs768576285
|
0.00001
|
NM_001042492.3(NF1):c.731-5T>C
|
rs1597659721
|
0.00001
|
NM_001042492.3(NF1):c.7314C>T (p.Tyr2438=)
|
rs1060500385
|
0.00001
|
NM_001042492.3(NF1):c.7321+9A>G
|
rs779562583
|
0.00001
|
NM_001042492.3(NF1):c.7322-13G>A
|
rs753596831
|
0.00001
|
NM_001042492.3(NF1):c.7323T>G (p.Ala2441=)
|
rs765750009
|
0.00001
|
NM_001042492.3(NF1):c.7326A>G (p.Leu2442=)
|
rs753224880
|
0.00001
|
NM_001042492.3(NF1):c.7332A>G (p.Thr2444=)
|
rs759005886
|
0.00001
|
NM_001042492.3(NF1):c.7335G>A (p.Val2445=)
|
rs1333741084
|
0.00001
|
NM_001042492.3(NF1):c.7359C>T (p.Cys2453=)
|
rs1555536126
|
0.00001
|
NM_001042492.3(NF1):c.7402A>G (p.Met2468Val)
|
rs151211377
|
0.00001
|
NM_001042492.3(NF1):c.7449T>C (p.Pro2483=)
|
rs878853916
|
0.00001
|
NM_001042492.3(NF1):c.7457+16C>T
|
rs571308300
|
0.00001
|
NM_001042492.3(NF1):c.7458-20C>G
|
rs1281985112
|
0.00001
|
NM_001042492.3(NF1):c.7479A>G (p.Pro2493=)
|
rs144957306
|
0.00001
|
NM_001042492.3(NF1):c.747A>G (p.Leu249=)
|
rs761964963
|
0.00001
|
NM_001042492.3(NF1):c.7503A>G (p.Glu2501=)
|
rs1466552910
|
0.00001
|
NM_001042492.3(NF1):c.7515A>C (p.Ala2505=)
|
rs768857964
|
0.00001
|
NM_001042492.3(NF1):c.7534G>A (p.Gly2512Ser)
|
rs766496842
|
0.00001
|
NM_001042492.3(NF1):c.7600A>G (p.Thr2534Ala)
|
rs779737221
|
0.00001
|
NM_001042492.3(NF1):c.7615+19T>C
|
rs773687866
|
0.00001
|
NM_001042492.3(NF1):c.7616-10T>C
|
rs2070272477
|
0.00001
|
NM_001042492.3(NF1):c.7616-15A>C
|
rs952554990
|
0.00001
|
NM_001042492.3(NF1):c.7616-4A>G
|
rs761675429
|
0.00001
|
NM_001042492.3(NF1):c.7623G>A (p.Arg2541=)
|
rs876660737
|
0.00001
|
NM_001042492.3(NF1):c.7626A>G (p.Lys2542=)
|
rs1369187055
|
0.00001
|
NM_001042492.3(NF1):c.7645T>C (p.Ser2549Pro)
|
rs767458044
|
0.00001
|
NM_001042492.3(NF1):c.7647A>G (p.Ser2549=)
|
rs750342324
|
0.00001
|
NM_001042492.3(NF1):c.7738+15A>G
|
rs769825571
|
0.00001
|
NM_001042492.3(NF1):c.7738+17T>C
|
rs1226267135
|
0.00001
|
NM_001042492.3(NF1):c.7739-5T>C
|
rs1156443249
|
0.00001
|
NM_001042492.3(NF1):c.7742C>G (p.Thr2581Ser)
|
rs757632129
|
0.00001
|
NM_001042492.3(NF1):c.7780C>T (p.Arg2594Cys)
|
rs372787215
|
0.00001
|
NM_001042492.3(NF1):c.7837C>T (p.Pro2613Ser)
|
rs138839077
|
0.00001
|
NM_001042492.3(NF1):c.7839G>A (p.Pro2613=)
|
rs752218441
|
0.00001
|
NM_001042492.3(NF1):c.7841A>G (p.Lys2614Arg)
|
rs587781502
|
0.00001
|
NM_001042492.3(NF1):c.7869+9T>C
|
rs940367528
|
0.00001
|
NM_001042492.3(NF1):c.7870-13_7870-12del
|
rs1491006440
|
0.00001
|
NM_001042492.3(NF1):c.7870-19C>T
|
rs542314717
|
0.00001
|
NM_001042492.3(NF1):c.7870-4G>T
|
rs1400960047
|
0.00001
|
NM_001042492.3(NF1):c.7872T>A (p.Ala2624=)
|
rs1399938334
|
0.00001
|
NM_001042492.3(NF1):c.7875A>G (p.Thr2625=)
|
rs763646216
|
0.00001
|
NM_001042492.3(NF1):c.7887T>C (p.Tyr2629=)
|
rs767860040
|
0.00001
|
NM_001042492.3(NF1):c.7889C>G (p.Thr2630Ser)
|
rs1283946778
|
0.00001
|
NM_001042492.3(NF1):c.7962T>C (p.Phe2654=)
|
rs1597867008
|
0.00001
|
NM_001042492.3(NF1):c.7970+16T>G
|
rs967311672
|
0.00001
|
NM_001042492.3(NF1):c.7971-7C>A
|
rs754359027
|
0.00001
|
NM_001042492.3(NF1):c.7971-8T>C
|
rs766889741
|
0.00001
|
NM_001042492.3(NF1):c.7980G>A (p.Leu2660=)
|
rs758573977
|
0.00001
|
NM_001042492.3(NF1):c.7981T>C (p.Leu2661=)
|
rs777848844
|
0.00001
|
NM_001042492.3(NF1):c.8013G>A (p.Leu2671=)
|
rs769548773
|
0.00001
|
NM_001042492.3(NF1):c.8091A>G (p.Gln2697=)
|
rs760433938
|
0.00001
|
NM_001042492.3(NF1):c.8097A>G (p.Gln2699=)
|
rs1286475305
|
0.00001
|
NM_001042492.3(NF1):c.8106C>T (p.Tyr2702=)
|
rs754271057
|
0.00001
|
NM_001042492.3(NF1):c.8113+13A>G
|
rs1007172637
|
0.00001
|
NM_001042492.3(NF1):c.8114-11A>G
|
rs1316433767
|
0.00001
|
NM_001042492.3(NF1):c.8114-18A>G
|
rs775834346
|
0.00001
|
NM_001042492.3(NF1):c.8114-20T>A
|
rs1224591407
|
0.00001
|
NM_001042492.3(NF1):c.8114-7G>A
|
rs763549780
|
0.00001
|
NM_001042492.3(NF1):c.8114-9T>C
|
rs1597868711
|
0.00001
|
NM_001042492.3(NF1):c.8160+12T>C
|
rs777080866
|
0.00001
|
NM_001042492.3(NF1):c.8160+13A>G
|
rs2070341050
|
0.00001
|
NM_001042492.3(NF1):c.8161-16C>T
|
rs1262893944
|
0.00001
|
NM_001042492.3(NF1):c.8289T>G (p.Pro2763=)
|
rs1335800376
|
0.00001
|
NM_001042492.3(NF1):c.8298G>A (p.Leu2766=)
|
rs768947696
|
0.00001
|
NM_001042492.3(NF1):c.8377+11G>A
|
rs754068299
|
0.00001
|
NM_001042492.3(NF1):c.8377+20A>G
|
rs201289884
|
0.00001
|
NM_001042492.3(NF1):c.8378-12C>G
|
rs1293358316
|
0.00001
|
NM_001042492.3(NF1):c.8378-4C>T
|
rs587782700
|
0.00001
|
NM_001042492.3(NF1):c.8378-6C>T
|
rs761763159
|
0.00001
|
NM_001042492.3(NF1):c.843C>A (p.Ile281=)
|
rs146094856
|
0.00001
|
NM_001042492.3(NF1):c.8451C>T (p.Ser2817=)
|
rs547090599
|
0.00001
|
NM_001042492.3(NF1):c.8463G>A (p.Val2821=)
|
rs746049685
|
0.00001
|
NM_001042492.3(NF1):c.8478C>T (p.Ser2826=)
|
rs770148738
|
0.00001
|
NM_001042492.3(NF1):c.8514C>T (p.Ile2838=)
|
rs1567634589
|
0.00001
|
NM_001042492.3(NF1):c.876C>T (p.Asn292=)
|
rs786202811
|
0.00001
|
NM_001042492.3(NF1):c.888+10G>A
|
rs773474511
|
0.00001
|
NM_001042492.3(NF1):c.888+8G>A
|
rs772234682
|
0.00001
|
NM_001042492.3(NF1):c.888+9G>C
|
rs1274043045
|
0.00001
|
NM_001042492.3(NF1):c.889-11G>A
|
rs1361582007
|
0.00001
|
NM_001042492.3(NF1):c.889-6del
|
rs864622362
|
0.00001
|
NM_001042492.3(NF1):c.909A>G (p.Leu303=)
|
rs876659803
|
0.00001
|
NM_001042492.3(NF1):c.948G>A (p.Leu316=)
|
rs876658782
|
0.00001
|
NM_001042492.3(NF1):c.969C>T (p.Ala323=)
|
rs786201462
|
0.00001
|
NM_001042492.3(NF1):c.1014T>C (p.Asp338=)
|
rs2066508867
|
|
NM_001042492.3(NF1):c.1017C>T (p.Asn339=)
|
rs2143873940
|
|
NM_001042492.3(NF1):c.1023C>T (p.Val341=)
|
rs776720136
|
|
NM_001042492.3(NF1):c.1029C>T (p.Phe343=)
|
|
|
NM_001042492.3(NF1):c.102C>A (p.Val34=)
|
rs760823948
|
|
NM_001042492.3(NF1):c.102C>T (p.Val34=)
|
rs760823948
|
|
NM_001042492.3(NF1):c.1030C>T (p.Leu344=)
|
rs2143874237
|
|
NM_001042492.3(NF1):c.1032A>T (p.Leu344=)
|
rs199832006
|
|
NM_001042492.3(NF1):c.1035T>C (p.Leu345=)
|
rs2143874306
|
|
NM_001042492.3(NF1):c.1050G>C (p.Val350=)
|
rs1597681164
|
|
NM_001042492.3(NF1):c.1056T>C (p.Asp352=)
|
rs2143874593
|
|
NM_001042492.3(NF1):c.1059T>G (p.Leu353=)
|
|
|
NM_001042492.3(NF1):c.1062+10T>C
|
rs1198681277
|
|
NM_001042492.3(NF1):c.1062+14T>G
|
|
|
NM_001042492.3(NF1):c.1062+8_1062+13del
|
rs2143874865
|
|
NM_001042492.3(NF1):c.1062+9del
|
|
|
NM_001042492.3(NF1):c.1063-10G>A
|
rs2143878286
|
|
NM_001042492.3(NF1):c.1063-10G>T
|
rs2143878286
|
|
NM_001042492.3(NF1):c.1063-12G>C
|
|
|
NM_001042492.3(NF1):c.1063-15T>C
|
rs1293182487
|
|
NM_001042492.3(NF1):c.1063-16G>A
|
rs200652866
|
|
NM_001042492.3(NF1):c.1063-16G>C
|
|
|
NM_001042492.3(NF1):c.1063-17T>C
|
|
|
NM_001042492.3(NF1):c.1063-18C>T
|
|
|
NM_001042492.3(NF1):c.1068G>A (p.Leu356=)
|
rs1259636575
|
|
NM_001042492.3(NF1):c.1071T>G (p.Leu357=)
|
rs2143878503
|
|
NM_001042492.3(NF1):c.1080A>G (p.Pro360=)
|
rs777642846
|
|
NM_001042492.3(NF1):c.1086G>A (p.Lys362=)
|
rs1597681929
|
|
NM_001042492.3(NF1):c.1089A>C (p.Pro363=)
|
|
|
NM_001042492.3(NF1):c.108T>A (p.Thr36=)
|
|
|
NM_001042492.3(NF1):c.108T>C (p.Thr36=)
|
rs876660776
|
|
NM_001042492.3(NF1):c.1092C>T (p.Phe364=)
|
rs2143878725
|
|
NM_001042492.3(NF1):c.1095A>T (p.Ser365=)
|
rs150814769
|
|
NM_001042492.3(NF1):c.1098A>G (p.Arg366=)
|
rs1597681964
|
|
NM_001042492.3(NF1):c.1101C>G (p.Gly367=)
|
rs2066519556
|
|
NM_001042492.3(NF1):c.1107G>A (p.Gln369=)
|
rs1193249274
|
|
NM_001042492.3(NF1):c.1113A>C (p.Ala371=)
|
rs786201652
|
|
NM_001042492.3(NF1):c.1113A>G (p.Ala371=)
|
rs786201652
|
|
NM_001042492.3(NF1):c.111G>A (p.Glu37=)
|
rs1555604893
|
|
NM_001042492.3(NF1):c.1122T>C (p.Asp374=)
|
rs2143879438
|
|
NM_001042492.3(NF1):c.1131T>C (p.Ile377=)
|
rs1555610993
|
|
NM_001042492.3(NF1):c.1146T>G (p.Ser382=)
|
rs2143879905
|
|
NM_001042492.3(NF1):c.1149C>T (p.Cys383=)
|
rs2143879948
|
|
NM_001042492.3(NF1):c.1155T>C (p.Arg385=)
|
rs2143880061
|
|
NM_001042492.3(NF1):c.1167C>T (p.His389=)
|
|
|
NM_001042492.3(NF1):c.1179C>T (p.His393=)
|
|
|
NM_001042492.3(NF1):c.117C>T (p.Asn39=)
|
rs1555604894
|
|
NM_001042492.3(NF1):c.1185+10T>G
|
rs759048037
|
|
NM_001042492.3(NF1):c.1185+12G>A
|
|
|
NM_001042492.3(NF1):c.1185+13G>A
|
|
|
NM_001042492.3(NF1):c.1185+13G>T
|
|
|
NM_001042492.3(NF1):c.1185+16T>G
|
rs533490337
|
|
NM_001042492.3(NF1):c.1185+17T>C
|
|
|
NM_001042492.3(NF1):c.1185+20T>G
|
rs2066522265
|
|
NM_001042492.3(NF1):c.1185+7G>C
|
rs1322791959
|
|
NM_001042492.3(NF1):c.1185+7G>T
|
rs1322791959
|
|
NM_001042492.3(NF1):c.1185+9A>T
|
rs776421322
|
|
NM_001042492.3(NF1):c.1186-13T>C
|
|
|
NM_001042492.3(NF1):c.1186-15T>C
|
|
|
NM_001042492.3(NF1):c.1186-16T>C
|
rs2143885173
|
|
NM_001042492.3(NF1):c.1186-20T>G
|
|
|
NM_001042492.3(NF1):c.1186-6C>A
|
|
|
NM_001042492.3(NF1):c.1186-6C>T
|
rs200684215
|
|
NM_001042492.3(NF1):c.1186-7T>C
|
rs1597682676
|
|
NM_001042492.3(NF1):c.1186-8T>C
|
rs921012432
|
|
NM_001042492.3(NF1):c.1188C>T (p.Ile396=)
|
rs775109720
|
|
NM_001042492.3(NF1):c.1191C>T (p.Cys397=)
|
rs2143885629
|
|
NM_001042492.3(NF1):c.1197T>C (p.Ala399=)
|
rs1597682745
|
|
NM_001042492.3(NF1):c.1215A>C (p.Thr405=)
|
|
|
NM_001042492.3(NF1):c.1215A>T (p.Thr405=)
|
rs1405569320
|
|
NM_001042492.3(NF1):c.1221C>T (p.His407=)
|
rs1439320467
|
|
NM_001042492.3(NF1):c.1224T>C (p.Tyr408=)
|
rs1555611089
|
|
NM_001042492.3(NF1):c.1227G>A (p.Val409=)
|
rs2143886274
|
|
NM_001042492.3(NF1):c.1228C>T (p.Leu410=)
|
rs2143886319
|
|
NM_001042492.3(NF1):c.1230G>A (p.Leu410=)
|
rs1168457824
|
|
NM_001042492.3(NF1):c.1230G>T (p.Leu410=)
|
|
|
NM_001042492.3(NF1):c.1233A>G (p.Val411=)
|
rs2143886403
|
|
NM_001042492.3(NF1):c.1239A>G (p.Ser413=)
|
|
|
NM_001042492.3(NF1):c.1242C>T (p.Leu414=)
|
|
|
NM_001042492.3(NF1):c.1251C>T (p.Ile417=)
|
rs1555611103
|
|
NM_001042492.3(NF1):c.1257C>A (p.Thr419=)
|
rs774269651
|
|
NM_001042492.3(NF1):c.1257C>G (p.Thr419=)
|
rs774269651
|
|
NM_001042492.3(NF1):c.1260+10A>C
|
rs2143887262
|
|
NM_001042492.3(NF1):c.1260+13G>A
|
rs1314400102
|
|
NM_001042492.3(NF1):c.1260+13G>C
|
|
|
NM_001042492.3(NF1):c.1260+14G>T
|
rs2066529819
|
|
NM_001042492.3(NF1):c.1260+16A>G
|
rs2066529931
|
|
NM_001042492.3(NF1):c.1260+17T>C
|
|
|
NM_001042492.3(NF1):c.1260+18T>C
|
|
|
NM_001042492.3(NF1):c.1260+19G>A
|
rs373341575
|
|
NM_001042492.3(NF1):c.1260+19G>C
|
rs373341575
|
|
NM_001042492.3(NF1):c.1260+20C>G
|
|
|
NM_001042492.3(NF1):c.1260+7C>T
|
|
|
NM_001042492.3(NF1):c.1260+9A>C
|
|
|
NM_001042492.3(NF1):c.1260+9A>G
|
rs1060503908
|
|
NM_001042492.3(NF1):c.1261-12_1261-9del
|
|
|
NM_001042492.3(NF1):c.1261-12del
|
rs2143913235
|
|
NM_001042492.3(NF1):c.1261-13T>C
|
rs1597688674
|
|
NM_001042492.3(NF1):c.1261-17T>G
|
|
|
NM_001042492.3(NF1):c.1261-18G>A
|
rs2143913110
|
|
NM_001042492.3(NF1):c.1261-20T>C
|
|
|
NM_001042492.3(NF1):c.1261-4C>G
|
rs587781820
|
|
NM_001042492.3(NF1):c.1261-4C>T
|
|
|
NM_001042492.3(NF1):c.1261-5T>C
|
rs1597688687
|
|
NM_001042492.3(NF1):c.1261-7T>C
|
rs1597688681
|
|
NM_001042492.3(NF1):c.1266A>G (p.Ala422=)
|
rs1555611565
|
|
NM_001042492.3(NF1):c.1267T>C (p.Leu423=)
|
rs773108080
|
|
NM_001042492.3(NF1):c.127C>T (p.Leu43=)
|
rs1060503913
|
|
NM_001042492.3(NF1):c.129A>G (p.Leu43=)
|
rs759576680
|
|
NM_001042492.3(NF1):c.1305C>T (p.His435=)
|
rs786201720
|
|
NM_001042492.3(NF1):c.1308G>T (p.Ser436=)
|
rs765425127
|
|
NM_001042492.3(NF1):c.1317T>G (p.Leu439=)
|
|
|
NM_001042492.3(NF1):c.1329T>C (p.Phe443=)
|
rs1597688853
|
|
NM_001042492.3(NF1):c.1332T>C (p.Gly444=)
|
rs1597688871
|
|
NM_001042492.3(NF1):c.1332T>G (p.Gly444=)
|
|
|
NM_001042492.3(NF1):c.1335A>G (p.Glu445=)
|
rs1597688882
|
|
NM_001042492.3(NF1):c.1338A>C (p.Thr446=)
|
|
|
NM_001042492.3(NF1):c.1341T>A (p.Leu447=)
|
rs2066620984
|
|
NM_001042492.3(NF1):c.1359T>C (p.Gly453=)
|
rs1555611595
|
|
NM_001042492.3(NF1):c.135T>C (p.Asn45=)
|
rs2143626404
|
|
NM_001042492.3(NF1):c.1368A>T (p.Ala456=)
|
|
|
NM_001042492.3(NF1):c.1374A>G (p.Pro458=)
|
rs1555611601
|
|
NM_001042492.3(NF1):c.1381C>A (p.Arg461=)
|
rs878853865
|
|
NM_001042492.3(NF1):c.1389A>G (p.Ala463=)
|
rs1131923
|
|
NM_001042492.3(NF1):c.1392+10A>G
|
rs1060503886
|
|
NM_001042492.3(NF1):c.1392+15G>A
|
rs1367351928
|
|
NM_001042492.3(NF1):c.1392+15G>C
|
|
|
NM_001042492.3(NF1):c.1392+17A>G
|
rs1164343067
|
|
NM_001042492.3(NF1):c.1392+18T>A
|
|
|
NM_001042492.3(NF1):c.1392+18T>G
|
|
|
NM_001042492.3(NF1):c.1392+3A>G
|
|
|
NM_001042492.3(NF1):c.1392+5_1392+6delinsTT
|
rs587782851
|
|
NM_001042492.3(NF1):c.1392+754T>C
|
|
|
NM_001042492.3(NF1):c.1392+8A>G
|
|
|
NM_001042492.3(NF1):c.1393-12T>C
|
rs1396610590
|
|
NM_001042492.3(NF1):c.1393-17T>C
|
rs2143958306
|
|
NM_001042492.3(NF1):c.1393-20T>C
|
rs1057523234
|
|
NM_001042492.3(NF1):c.1393-9T>C
|
rs1314978150
|
|
NM_001042492.3(NF1):c.1393-9T>G
|
|
|
NM_001042492.3(NF1):c.1393-9del
|
rs2143958360
|
|
NM_001042492.3(NF1):c.1401A>G (p.Thr467=)
|
rs2143958740
|
|
NM_001042492.3(NF1):c.1407A>G (p.Lys469=)
|
rs2143958833
|
|
NM_001042492.3(NF1):c.141C>A (p.Ser47=)
|
|
|
NM_001042492.3(NF1):c.141C>T (p.Ser47=)
|
rs1597626009
|
|
NM_001042492.3(NF1):c.1422C>T (p.Ser474=)
|
rs1597698349
|
|
NM_001042492.3(NF1):c.1431T>C (p.Phe477=)
|
rs1555612278
|
|
NM_001042492.3(NF1):c.1446A>G (p.Thr482=)
|
|
|
NM_001042492.3(NF1):c.1449C>T (p.Asp483=)
|
rs2143959355
|
|
NM_001042492.3(NF1):c.1450C>T (p.Leu484=)
|
rs876657544
|
|
NM_001042492.3(NF1):c.1452G>A (p.Leu484=)
|
rs2143959403
|
|
NM_001042492.3(NF1):c.1458A>C (p.Thr486=)
|
rs878853866
|
|
NM_001042492.3(NF1):c.1458A>G (p.Thr486=)
|
rs878853866
|
|
NM_001042492.3(NF1):c.1467T>C (p.Tyr489=)
|
rs1567841799
|
|
NM_001042492.3(NF1):c.147C>T (p.Tyr49=)
|
rs1597626026
|
|
NM_001042492.3(NF1):c.1482G>A (p.Leu494=)
|
|
|
NM_001042492.3(NF1):c.1485C>T (p.Ser495=)
|
|
|
NM_001042492.3(NF1):c.1491G>A (p.Val497=)
|
|
|
NM_001042492.3(NF1):c.1495C>T (p.Leu499=)
|
rs764095472
|
|
NM_001042492.3(NF1):c.1506A>C (p.Ala502=)
|
rs1597698488
|
|
NM_001042492.3(NF1):c.1509T>C (p.Asp503=)
|
rs1597698493
|
|
NM_001042492.3(NF1):c.150G>A (p.Lys50=)
|
rs1597626037
|
|
NM_001042492.3(NF1):c.1512A>G (p.Pro504=)
|
rs2143960524
|
|
NM_001042492.3(NF1):c.1518C>T (p.Leu506=)
|
rs1597698504
|
|
NM_001042492.3(NF1):c.1519T>C (p.Leu507=)
|
rs876659815
|
|
NM_001042492.3(NF1):c.1527+1159C>G
|
rs878853868
|
|
NM_001042492.3(NF1):c.1527+11T>A
|
|
|
NM_001042492.3(NF1):c.1527+11T>C
|
|
|
NM_001042492.3(NF1):c.1527+14T>A
|
rs1178535900
|
|
NM_001042492.3(NF1):c.1527+14T>C
|
|
|
NM_001042492.3(NF1):c.1527+20A>C
|
|
|
NM_001042492.3(NF1):c.1527+7A>G
|
rs1555612295
|
|
NM_001042492.3(NF1):c.1528-10T>G
|
rs376174484
|
|
NM_001042492.3(NF1):c.1528-12T>A
|
rs2143985261
|
|
NM_001042492.3(NF1):c.1528-12T>C
|
|
|
NM_001042492.3(NF1):c.1528-14T>G
|
|
|
NM_001042492.3(NF1):c.1528-15T>C
|
rs2143985194
|
|
NM_001042492.3(NF1):c.1528-16C>A
|
|
|
NM_001042492.3(NF1):c.1528-16C>T
|
|
|
NM_001042492.3(NF1):c.1528-17C>A
|
|
|
NM_001042492.3(NF1):c.1528-3C>T
|
rs1060500294
|
|
NM_001042492.3(NF1):c.1528-7C>G
|
rs1459198374
|
|
NM_001042492.3(NF1):c.1528-7C>T
|
|
|
NM_001042492.3(NF1):c.1528-7del
|
rs2143985356
|
|
NM_001042492.3(NF1):c.1528-8C>G
|
rs1434245278
|
|
NM_001042492.3(NF1):c.1528-8C>T
|
rs1434245278
|
|
NM_001042492.3(NF1):c.1528-9T>C
|
rs1060503916
|
|
NM_001042492.3(NF1):c.1530T>C (p.Asn510=)
|
rs1275899558
|
|
NM_001042492.3(NF1):c.153T>C (p.Phe51=)
|
rs1057523892
|
|
NM_001042492.3(NF1):c.1545G>C (p.Gly515=)
|
rs876658203
|
|
NM_001042492.3(NF1):c.1545G>T (p.Gly515=)
|
rs876658203
|
|
NM_001042492.3(NF1):c.1548C>T (p.Pro516=)
|
rs768883989
|
|
NM_001042492.3(NF1):c.1554C>A (p.Thr518=)
|
rs876660849
|
|
NM_001042492.3(NF1):c.1554C>T (p.Thr518=)
|
rs876660849
|
|
NM_001042492.3(NF1):c.1557A>G (p.Gln519=)
|
|
|
NM_001042492.3(NF1):c.1560C>T (p.Gly520=)
|
rs112168406
|
|
NM_001042492.3(NF1):c.1563T>C (p.Ser521=)
|
|
|
NM_001042492.3(NF1):c.1569A>G (p.Ala523=)
|
rs1555612830
|
|
NM_001042492.3(NF1):c.1575A>G (p.Leu525=)
|
|
|
NM_001042492.3(NF1):c.1578T>A (p.Ile526=)
|
rs1597703458
|
|
NM_001042492.3(NF1):c.1581A>C (p.Thr527=)
|
rs1060503907
|
|
NM_001042492.3(NF1):c.1581A>G (p.Thr527=)
|
rs1060503907
|
|
NM_001042492.3(NF1):c.1584G>T (p.Gly528=)
|
rs2143986476
|
|
NM_001042492.3(NF1):c.1587C>G (p.Leu529=)
|
rs786203041
|
|
NM_001042492.3(NF1):c.1590C>T (p.Val530=)
|
rs2143986587
|
|
NM_001042492.3(NF1):c.1594C>T (p.Leu532=)
|
rs2143986669
|
|
NM_001042492.3(NF1):c.1599C>T (p.Val533=)
|
rs369458366
|
|
NM_001042492.3(NF1):c.1602T>C (p.Pro534=)
|
rs1205604823
|
|
NM_001042492.3(NF1):c.1611C>T (p.His537=)
|
rs1597703539
|
|
NM_001042492.3(NF1):c.1620G>A (p.Glu540=)
|
rs766748586
|
|
NM_001042492.3(NF1):c.1623T>A (p.Ile541=)
|
rs1597703569
|
|
NM_001042492.3(NF1):c.1626T>C (p.Ala542=)
|
rs2143987218
|
|
NM_001042492.3(NF1):c.162T>C (p.Val54=)
|
rs876660899
|
|
NM_001042492.3(NF1):c.1632A>G (p.Glu544=)
|
rs1597703585
|
|
NM_001042492.3(NF1):c.1641+19C>T
|
rs2066878542
|
|
NM_001042492.3(NF1):c.1641+20C>A
|
|
|
NM_001042492.3(NF1):c.1641+20C>T
|
rs2143987833
|
|
NM_001042492.3(NF1):c.1641+20del
|
|
|
NM_001042492.3(NF1):c.1641+7G>A
|
rs1060503887
|
|
NM_001042492.3(NF1):c.1641+7G>C
|
rs1060503887
|
|
NM_001042492.3(NF1):c.1641+8G>C
|
rs758022528
|
|
NM_001042492.3(NF1):c.1641+9A>G
|
|
|
NM_001042492.3(NF1):c.1642-12T>C
|
rs2066926774
|
|
NM_001042492.3(NF1):c.1642-12T>G
|
|
|
NM_001042492.3(NF1):c.1642-13_1642-12del
|
|
|
NM_001042492.3(NF1):c.1642-15T>C
|
|
|
NM_001042492.3(NF1):c.1642-18C>A
|
|
|
NM_001042492.3(NF1):c.1642-18C>G
|
|
|
NM_001042492.3(NF1):c.1642-20C>G
|
rs1446556987
|
|
NM_001042492.3(NF1):c.1642-20C>T
|
|
|
NM_001042492.3(NF1):c.1642-4T>C
|
rs786202197
|
|
NM_001042492.3(NF1):c.1642-5T>A
|
|
|
NM_001042492.3(NF1):c.1644T>C (p.Ala548=)
|
|
|
NM_001042492.3(NF1):c.1645C>T (p.Leu549=)
|
|
|
NM_001042492.3(NF1):c.1647G>A (p.Leu549=)
|
rs774627695
|
|
NM_001042492.3(NF1):c.1647G>T (p.Leu549=)
|
rs774627695
|
|
NM_001042492.3(NF1):c.1650G>A (p.Leu550=)
|
rs1555613190
|
|
NM_001042492.3(NF1):c.1650G>C (p.Leu550=)
|
rs1555613190
|
|
NM_001042492.3(NF1):c.1659T>C (p.His553=)
|
rs2144003928
|
|
NM_001042492.3(NF1):c.1668T>C (p.Asp556=)
|
rs1597706678
|
|
NM_001042492.3(NF1):c.1671C>T (p.Ser557=)
|
rs1440915203
|
|
NM_001042492.3(NF1):c.1674T>C (p.Ile558=)
|
rs2144004226
|
|
NM_001042492.3(NF1):c.1677T>C (p.Asp559=)
|
rs1209447028
|
|
NM_001042492.3(NF1):c.1689T>C (p.Pro563=)
|
rs1445925500
|
|
NM_001042492.3(NF1):c.1695T>C (p.Ala565=)
|
|
|
NM_001042492.3(NF1):c.1698T>C (p.Pro566=)
|
rs2144004618
|
|
NM_001042492.3(NF1):c.1707A>G (p.Thr569=)
|
rs1060503898
|
|
NM_001042492.3(NF1):c.1710T>C (p.Phe570=)
|
rs1462741584
|
|
NM_001042492.3(NF1):c.171C>A (p.Gly57=)
|
rs876658709
|
|
NM_001042492.3(NF1):c.1721+12T>A
|
|
|
NM_001042492.3(NF1):c.1721+12T>G
|
|
|
NM_001042492.3(NF1):c.1721+13T>C
|
|
|
NM_001042492.3(NF1):c.1721+15A>G
|
|
|
NM_001042492.3(NF1):c.1721+16T>A
|
|
|
NM_001042492.3(NF1):c.1721+17T>A
|
|
|
NM_001042492.3(NF1):c.1721+5A>G
|
rs876658961
|
|
NM_001042492.3(NF1):c.1721+6T>C
|
rs2144005065
|
|
NM_001042492.3(NF1):c.1721+7G>A
|
rs2144005086
|
|
NM_001042492.3(NF1):c.1721+8T>G
|
rs2144005104
|
|
NM_001042492.3(NF1):c.1721+9A>G
|
|
|
NM_001042492.3(NF1):c.1722-10G>A
|
rs2144015327
|
|
NM_001042492.3(NF1):c.1722-12_1722-11del
|
rs2144015258
|
|
NM_001042492.3(NF1):c.1722-13T>C
|
rs1954017367
|
|
NM_001042492.3(NF1):c.1722-13dup
|
|
|
NM_001042492.3(NF1):c.1722-16C>G
|
|
|
NM_001042492.3(NF1):c.1722-16C>T
|
rs759896772
|
|
NM_001042492.3(NF1):c.1722-19G>A
|
|
|
NM_001042492.3(NF1):c.1722-19G>T
|
|
|
NM_001042492.3(NF1):c.1722-6C>G
|
rs878853869
|
|
NM_001042492.3(NF1):c.1722-6C>T
|
rs878853869
|
|
NM_001042492.3(NF1):c.1722-7A>G
|
|
|
NM_001042492.3(NF1):c.1728A>G (p.Gln576=)
|
rs1057523206
|
|
NM_001042492.3(NF1):c.1734T>C (p.Leu578=)
|
rs876658128
|
|
NM_001042492.3(NF1):c.1749G>A (p.Lys583=)
|
rs1597708670
|
|
NM_001042492.3(NF1):c.174C>T (p.Leu58=)
|
rs2065657421
|
|
NM_001042492.3(NF1):c.1755A>G (p.Leu585=)
|
rs1597708685
|
|
NM_001042492.3(NF1):c.1761T>C (p.Ser587=)
|
|
|
NM_001042492.3(NF1):c.1764T>C (p.His588=)
|
rs1229784876
|
|
NM_001042492.3(NF1):c.1767A>G (p.Gln589=)
|
rs2144016279
|
|
NM_001042492.3(NF1):c.1782A>T (p.Thr594=)
|
|
|
NM_001042492.3(NF1):c.1791C>G (p.Leu597=)
|
rs1597708736
|
|
NM_001042492.3(NF1):c.1801C>A (p.Arg601=)
|
rs587782592
|
|
NM_001042492.3(NF1):c.180T>C (p.Thr60=)
|
rs1597626116
|
|
NM_001042492.3(NF1):c.180T>G (p.Thr60=)
|
|
|
NM_001042492.3(NF1):c.1812G>A (p.Leu604=)
|
rs2066963883
|
|
NM_001042492.3(NF1):c.1818C>T (p.Cys606=)
|
rs1567845937
|
|
NM_001042492.3(NF1):c.1845+11T>C
|
|
|
NM_001042492.3(NF1):c.1845+12G>A
|
rs2144017551
|
|
NM_001042492.3(NF1):c.1845+12G>T
|
rs2144017551
|
|
NM_001042492.3(NF1):c.1845+15A>G
|
rs2144017600
|
|
NM_001042492.3(NF1):c.1845+15A>T
|
|
|
NM_001042492.3(NF1):c.1845+17_1845+18del
|
rs765979407
|
|
NM_001042492.3(NF1):c.1845+18T>A
|
|
|
NM_001042492.3(NF1):c.1845+18T>C
|
rs62070681
|
|
NM_001042492.3(NF1):c.1845+9A>G
|
rs2144017504
|
|
NM_001042492.3(NF1):c.1846-10T>G
|
rs1597710285
|
|
NM_001042492.3(NF1):c.1846-12A>G
|
|
|
NM_001042492.3(NF1):c.1846-13T>A
|
|
|
NM_001042492.3(NF1):c.1846-13dup
|
rs757751570
|
|
NM_001042492.3(NF1):c.1846-14T>G
|
|
|
NM_001042492.3(NF1):c.1846-15T>C
|
|
|
NM_001042492.3(NF1):c.1846-18T>A
|
|
|
NM_001042492.3(NF1):c.1846-19T>C
|
|
|
NM_001042492.3(NF1):c.1846-20A>G
|
rs2144025337
|
|
NM_001042492.3(NF1):c.1846-22TTAT[2]
|
rs754412829
|
|
NM_001042492.3(NF1):c.1846-4C>T
|
|
|
NM_001042492.3(NF1):c.1846-5T>C
|
rs1567846600
|
|
NM_001042492.3(NF1):c.1846-8T>A
|
rs886052799
|
|
NM_001042492.3(NF1):c.1866T>C (p.Cys622=)
|
rs753245823
|
|
NM_001042492.3(NF1):c.1868A>G (p.His623Arg)
|
rs1555613555
|
|
NM_001042492.3(NF1):c.1869C>T (p.His623=)
|
rs1555613556
|
|
NM_001042492.3(NF1):c.1887G>A (p.Gly629=)
|
rs1555613561
|
|
NM_001042492.3(NF1):c.1890A>G (p.Val630=)
|
rs2144026306
|
|
NM_001042492.3(NF1):c.1893A>C (p.Gly631=)
|
rs1597710471
|
|
NM_001042492.3(NF1):c.1893A>T (p.Gly631=)
|
rs1597710471
|
|
NM_001042492.3(NF1):c.1902T>A (p.Ile634=)
|
rs1555613566
|
|
NM_001042492.3(NF1):c.1905T>C (p.Pro635=)
|
|
|
NM_001042492.3(NF1):c.1908T>C (p.Ser636=)
|
rs2144026596
|
|
NM_001042492.3(NF1):c.1920C>G (p.Thr640=)
|
rs1555613574
|
|
NM_001042492.3(NF1):c.1920C>T (p.Thr640=)
|
rs1555613574
|
|
NM_001042492.3(NF1):c.192T>C (p.Asn64=)
|
|
|
NM_001042492.3(NF1):c.1938T>C (p.Asp646=)
|
rs876658620
|
|
NM_001042492.3(NF1):c.1941T>C (p.His647=)
|
rs1397958327
|
|
NM_001042492.3(NF1):c.1947A>G (p.Glu649=)
|
|
|
NM_001042492.3(NF1):c.1948T>C (p.Leu650=)
|
rs1597710638
|
|
NM_001042492.3(NF1):c.1950A>G (p.Leu650=)
|
rs1597710650
|
|
NM_001042492.3(NF1):c.1951C>T (p.Leu651=)
|
rs1555613590
|
|
NM_001042492.3(NF1):c.1953A>G (p.Leu651=)
|
rs1298717179
|
|
NM_001042492.3(NF1):c.1962T>C (p.Pro654=)
|
rs1555613595
|
|
NM_001042492.3(NF1):c.1962T>G (p.Pro654=)
|
rs1555613595
|
|
NM_001042492.3(NF1):c.1965A>G (p.Gly655=)
|
rs2144027490
|
|
NM_001042492.3(NF1):c.1968C>T (p.Ala656=)
|
rs2144027539
|
|
NM_001042492.3(NF1):c.1977G>A (p.Arg659=)
|
rs1597710788
|
|
NM_001042492.3(NF1):c.1983A>G (p.Gly661=)
|
|
|
NM_001042492.3(NF1):c.1986A>G (p.Lys662=)
|
rs2144027825
|
|
NM_001042492.3(NF1):c.1989G>A (p.Gly663=)
|
|
|
NM_001042492.3(NF1):c.1992C>T (p.Asn664=)
|
rs2144027926
|
|
NM_001042492.3(NF1):c.1998T>C (p.Ser666=)
|
rs1567846823
|
|
NM_001042492.3(NF1):c.2001+10T>C
|
rs2144028200
|
|
NM_001042492.3(NF1):c.2001+11T>C
|
rs2144028217
|
|
NM_001042492.3(NF1):c.2001+11_2001+13del
|
rs750468034
|
|
NM_001042492.3(NF1):c.2001+12C>T
|
rs2144028237
|
|
NM_001042492.3(NF1):c.2001+13T>C
|
rs2144028253
|
|
NM_001042492.3(NF1):c.2001+17C>T
|
|
|
NM_001042492.3(NF1):c.2001+18T>C
|
rs779458748
|
|
NM_001042492.3(NF1):c.2001+3C>G
|
rs876659863
|
|
NM_001042492.3(NF1):c.2001+7T>C
|
rs878853870
|
|
NM_001042492.3(NF1):c.2001+7T>G
|
rs878853870
|
|
NM_001042492.3(NF1):c.2001+8T>G
|
rs2144028166
|
|
NM_001042492.3(NF1):c.2002-12C>G
|
|
|
NM_001042492.3(NF1):c.2002-13C>A
|
rs2067014254
|
|
NM_001042492.3(NF1):c.2002-15A>C
|
rs2151425460
|
|
NM_001042492.3(NF1):c.2002-16C>T
|
rs2151425455
|
|
NM_001042492.3(NF1):c.2002-4_2002-3del
|
rs786203664
|
|
NM_001042492.3(NF1):c.2002-5C>G
|
rs1165625614
|
|
NM_001042492.3(NF1):c.2002-5C>T
|
rs1165625614
|
|
NM_001042492.3(NF1):c.2002-6T>C
|
rs2151425490
|
|
NM_001042492.3(NF1):c.2002-8A>G
|
rs1318674321
|
|
NM_001042492.3(NF1):c.2007T>C (p.Ser669=)
|
rs750622783
|
|
NM_001042492.3(NF1):c.2013A>G (p.Ala671=)
|
rs786203349
|
|
NM_001042492.3(NF1):c.2016A>G (p.Gly672=)
|
|
|
NM_001042492.3(NF1):c.2025A>G (p.Gly675=)
|
|
|
NM_001042492.3(NF1):c.2028C>A (p.Thr676=)
|
rs878853873
|
|
NM_001042492.3(NF1):c.2028C>G (p.Thr676=)
|
rs878853873
|
|
NM_001042492.3(NF1):c.2028C>T (p.Thr676=)
|
|
|
NM_001042492.3(NF1):c.2031C>G (p.Pro677=)
|
rs753177596
|
|
NM_001042492.3(NF1):c.2032C>T (p.Pro678Ser)
|
rs758691069
|
|
NM_001042492.3(NF1):c.2033_2034delinsTA (p.Pro678Leu)
|
rs1597712334
|
|
NM_001042492.3(NF1):c.2034G>T (p.Pro678=)
|
rs2285892
|
|
NM_001042492.3(NF1):c.204+7A>G
|
rs748105842
|
|
NM_001042492.3(NF1):c.204+9T>C
|
rs771989896
|
|
NM_001042492.3(NF1):c.2046A>G (p.Gln682=)
|
rs2067016407
|
|
NM_001042492.3(NF1):c.205-11T>C
|
|
|
NM_001042492.3(NF1):c.205-14A>G
|
|
|
NM_001042492.3(NF1):c.205-16A>G
|
rs2143645089
|
|
NM_001042492.3(NF1):c.205-19T>C
|
rs1597629649
|
|
NM_001042492.3(NF1):c.205-7C>T
|
rs1597629659
|
|
NM_001042492.3(NF1):c.205-9T>C
|
|
|
NM_001042492.3(NF1):c.2052G>A (p.Gln684=)
|
rs2151425654
|
|
NM_001042492.3(NF1):c.2059C>T (p.Leu687=)
|
rs1597712422
|
|
NM_001042492.3(NF1):c.2061A>C (p.Leu687=)
|
rs143671377
|
|
NM_001042492.3(NF1):c.2070C>T (p.Ala690=)
|
rs2151425696
|
|
NM_001042492.3(NF1):c.2073G>A (p.Leu691=)
|
rs756988894
|
|
NM_001042492.3(NF1):c.2073G>C (p.Leu691=)
|
rs756988894
|
|
NM_001042492.3(NF1):c.2083C>T (p.Leu695=)
|
rs2151425744
|
|
NM_001042492.3(NF1):c.2085G>A (p.Leu695=)
|
rs1060503889
|
|
NM_001042492.3(NF1):c.2094T>C (p.Pro698=)
|
rs1555613798
|
|
NM_001042492.3(NF1):c.2103A>G (p.Glu701=)
|
rs2151425793
|
|
NM_001042492.3(NF1):c.210A>T (p.Ile70=)
|
rs2143645399
|
|
NM_001042492.3(NF1):c.2112G>A (p.Leu704=)
|
|
|
NM_001042492.3(NF1):c.2115T>C (p.Val705=)
|
|
|
NM_001042492.3(NF1):c.2124C>G (p.Ser708=)
|
|
|
NM_001042492.3(NF1):c.2124C>T (p.Ser708=)
|
rs1406726344
|
|
NM_001042492.3(NF1):c.2130C>T (p.Phe710=)
|
rs1555613806
|
|
NM_001042492.3(NF1):c.2136C>T (p.His712=)
|
rs1597712580
|
|
NM_001042492.3(NF1):c.2142T>C (p.Cys714=)
|
rs141382637
|
|
NM_001042492.3(NF1):c.2145G>A (p.Glu715=)
|
rs2067018804
|
|
NM_001042492.3(NF1):c.2158C>A (p.Arg720=)
|
rs759679443
|
|
NM_001042492.3(NF1):c.2160G>A (p.Arg720=)
|
rs765339408
|
|
NM_001042492.3(NF1):c.2160G>T (p.Arg720=)
|
rs765339408
|
|
NM_001042492.3(NF1):c.2166G>A (p.Gly722=)
|
|
|
NM_001042492.3(NF1):c.2169G>A (p.Val723=)
|
rs2151425959
|
|
NM_001042492.3(NF1):c.2175A>G (p.Glu725=)
|
rs1555613817
|
|
NM_001042492.3(NF1):c.2184G>C (p.Val728=)
|
|
|
NM_001042492.3(NF1):c.2184G>T (p.Val728=)
|
rs2151426004
|
|
NM_001042492.3(NF1):c.2190C>T (p.Asn730=)
|
rs1176754107
|
|
NM_001042492.3(NF1):c.2193C>A (p.Leu731=)
|
rs2151426038
|
|
NM_001042492.3(NF1):c.2193C>G (p.Leu731=)
|
rs2151426038
|
|
NM_001042492.3(NF1):c.2193C>T (p.Leu731=)
|
rs2151426038
|
|
NM_001042492.3(NF1):c.2199C>A (p.Pro733=)
|
rs1555613826
|
|
NM_001042492.3(NF1):c.2199C>T (p.Pro733=)
|
rs1555613826
|
|
NM_001042492.3(NF1):c.2202C>T (p.Asn734=)
|
rs2067019953
|
|
NM_001042492.3(NF1):c.2208C>T (p.Asn736=)
|
rs1597712710
|
|
NM_001042492.3(NF1):c.2220G>A (p.Glu740=)
|
rs2067020397
|
|
NM_001042492.3(NF1):c.2226C>G (p.Ala742=)
|
rs1060503912
|
|
NM_001042492.3(NF1):c.2232C>G (p.Val744=)
|
rs748865537
|
|
NM_001042492.3(NF1):c.2232C>T (p.Val744=)
|
rs748865537
|
|
NM_001042492.3(NF1):c.2235C>T (p.Ser745=)
|
rs1060503901
|
|
NM_001042492.3(NF1):c.2247A>G (p.Ser749=)
|
|
|
NM_001042492.3(NF1):c.2250A>G (p.Thr750=)
|
rs876659061
|
|
NM_001042492.3(NF1):c.2251+10A>C
|
rs1431934984
|
|
NM_001042492.3(NF1):c.2251+13A>G
|
rs2151426206
|
|
NM_001042492.3(NF1):c.2251+13del
|
rs2151426208
|
|
NM_001042492.3(NF1):c.2251+14G>A
|
|
|
NM_001042492.3(NF1):c.2251+15T>A
|
rs2067021817
|
|
NM_001042492.3(NF1):c.2251+15T>C
|
|
|
NM_001042492.3(NF1):c.2251+16G>T
|
|
|
NM_001042492.3(NF1):c.2251+17dup
|
|
|
NM_001042492.3(NF1):c.2251+8T>G
|
rs2151426190
|
|
NM_001042492.3(NF1):c.2251+9G>A
|
rs772014402
|
|
NM_001042492.3(NF1):c.2251+9G>C
|
rs772014402
|
|
NM_001042492.3(NF1):c.2252-10A>G
|
rs2067030183
|
|
NM_001042492.3(NF1):c.2252-11T>C
|
rs2151426803
|
|
NM_001042492.3(NF1):c.2252-12G>C
|
rs747671446
|
|
NM_001042492.3(NF1):c.2252-15G>A
|
rs1225348649
|
|
NM_001042492.3(NF1):c.2252-15G>C
|
|
|
NM_001042492.3(NF1):c.2252-18G>C
|
rs754583248
|
|
NM_001042492.3(NF1):c.2252-6G>A
|
|
|
NM_001042492.3(NF1):c.2256A>G (p.Arg752=)
|
rs2067030522
|
|
NM_001042492.3(NF1):c.2271A>G (p.Lys757=)
|
rs1555613916
|
|
NM_001042492.3(NF1):c.2284C>T (p.Leu762=)
|
rs370762336
|
|
NM_001042492.3(NF1):c.2286G>A (p.Leu762=)
|
rs876660624
|
|
NM_001042492.3(NF1):c.228A>G (p.Glu76=)
|
rs2143645674
|
|
NM_001042492.3(NF1):c.2304T>C (p.His768=)
|
rs1597713390
|
|
NM_001042492.3(NF1):c.2310T>C (p.Thr770=)
|
rs2151426973
|
|
NM_001042492.3(NF1):c.2316A>G (p.Gly772=)
|
rs2151426988
|
|
NM_001042492.3(NF1):c.231A>G (p.Lys77=)
|
rs373563053
|
|
NM_001042492.3(NF1):c.2322T>C (p.Thr774=)
|
rs770111990
|
|
NM_001042492.3(NF1):c.2325+10T>C
|
rs2151427043
|
|
NM_001042492.3(NF1):c.2325+12G>A
|
|
|
NM_001042492.3(NF1):c.2325+14A>G
|
rs1327151855
|
|
NM_001042492.3(NF1):c.2325+16C>T
|
rs371709563
|
|
NM_001042492.3(NF1):c.2325+17A>G
|
|
|
NM_001042492.3(NF1):c.2325+20A>G
|
|
|
NM_001042492.3(NF1):c.2325+7C>G
|
|
|
NM_001042492.3(NF1):c.2325+7C>T
|
rs1555613937
|
|
NM_001042492.3(NF1):c.2325+8C>T
|
|
|
NM_001042492.3(NF1):c.2326-11C>A
|
rs2151427406
|
|
NM_001042492.3(NF1):c.2326-11C>G
|
|
|
NM_001042492.3(NF1):c.2326-11C>T
|
|
|
NM_001042492.3(NF1):c.2326-13G>A
|
rs770203564
|
|
NM_001042492.3(NF1):c.2326-14T>C
|
rs2151427395
|
|
NM_001042492.3(NF1):c.2326-15T>A
|
rs1334545529
|
|
NM_001042492.3(NF1):c.2326-16A>T
|
|
|
NM_001042492.3(NF1):c.2326-7A>G
|
rs2151427420
|
|
NM_001042492.3(NF1):c.2326-8C>T
|
rs878853874
|
|
NM_001042492.3(NF1):c.2328T>G (p.Ala776=)
|
rs1555613978
|
|
NM_001042492.3(NF1):c.2334A>G (p.Glu778=)
|
|
|
NM_001042492.3(NF1):c.2343T>C (p.His781=)
|
|
|
NM_001042492.3(NF1):c.2346A>G (p.Ala782=)
|
rs1201234374
|
|
NM_001042492.3(NF1):c.2358A>G (p.Gln786=)
|
rs762346437
|
|
NM_001042492.3(NF1):c.2367G>A (p.Lys789=)
|
rs2151427523
|
|
NM_001042492.3(NF1):c.2373C>A (p.Ile791=)
|
rs1033227891
|
|
NM_001042492.3(NF1):c.2373C>T (p.Ile791=)
|
rs1033227891
|
|
NM_001042492.3(NF1):c.2379C>T (p.Asn793=)
|
rs1555614006
|
|
NM_001042492.3(NF1):c.237A>G (p.Leu79=)
|
rs752208826
|
|
NM_001042492.3(NF1):c.2382T>C (p.Tyr794=)
|
rs2151427564
|
|
NM_001042492.3(NF1):c.2385A>G (p.Pro795=)
|
rs1555614009
|
|
NM_001042492.3(NF1):c.2391C>G (p.Ala797=)
|
|
|
NM_001042492.3(NF1):c.2394A>G (p.Lys798=)
|
rs1597713814
|
|
NM_001042492.3(NF1):c.2400A>G (p.Glu800=)
|
rs2151427602
|
|
NM_001042492.3(NF1):c.2409+11A>G
|
|
|
NM_001042492.3(NF1):c.2409+15T>C
|
rs2067039946
|
|
NM_001042492.3(NF1):c.2409+18A>G
|
|
|
NM_001042492.3(NF1):c.2409+18A>T
|
rs186897285
|
|
NM_001042492.3(NF1):c.2409+19C>T
|
rs2151427715
|
|
NM_001042492.3(NF1):c.2409+7C>G
|
|
|
NM_001042492.3(NF1):c.2409+8T>G
|
rs2151427664
|
|
NM_001042492.3(NF1):c.2409+9G>C
|
|
|
NM_001042492.3(NF1):c.2410-12T>C
|
rs876657932
|
|
NM_001042492.3(NF1):c.2410-13A>T
|
rs1567848711
|
|
NM_001042492.3(NF1):c.2410-4T>G
|
rs2151428759
|
|
NM_001042492.3(NF1):c.2410-5T>C
|
|
|
NM_001042492.3(NF1):c.2410-7T>C
|
|
|
NM_001042492.3(NF1):c.2410-8G>C
|
rs1060500270
|
|
NM_001042492.3(NF1):c.2412T>C (p.Ala804=)
|
rs2151428788
|
|
NM_001042492.3(NF1):c.2415T>C (p.Ala805=)
|
|
|
NM_001042492.3(NF1):c.2415T>G (p.Ala805=)
|
rs1555614182
|
|
NM_001042492.3(NF1):c.2421C>T (p.Ser807=)
|
rs771345891
|
|
NM_001042492.3(NF1):c.2427C>T (p.His809=)
|
|
|
NM_001042492.3(NF1):c.2433C>G (p.Thr811=)
|
|
|
NM_001042492.3(NF1):c.2436T>C (p.Ile812=)
|
|
|
NM_001042492.3(NF1):c.243C>G (p.Leu81=)
|
|
|
NM_001042492.3(NF1):c.243C>T (p.Leu81=)
|
rs1597629805
|
|
NM_001042492.3(NF1):c.2445G>A (p.Arg815=)
|
rs1555614186
|
|
NM_001042492.3(NF1):c.2448A>C (p.Arg816=)
|
rs2151428883
|
|
NM_001042492.3(NF1):c.2457T>C (p.His819=)
|
rs976466916
|
|
NM_001042492.3(NF1):c.2460G>A (p.Val820=)
|
rs1216764866
|
|
NM_001042492.3(NF1):c.2466A>C (p.Gly822=)
|
rs1555614200
|
|
NM_001042492.3(NF1):c.246T>G (p.Ser82=)
|
|
|
NM_001042492.3(NF1):c.2472A>T (p.Gly824=)
|
rs2151428931
|
|
NM_001042492.3(NF1):c.2475C>T (p.Ser825=)
|
rs1597715206
|
|
NM_001042492.3(NF1):c.2493A>G (p.Thr831=)
|
|
|
NM_001042492.3(NF1):c.2499C>A (p.Ser833=)
|
rs2067066249
|
|
NM_001042492.3(NF1):c.2499C>T (p.Ser833=)
|
rs2067066249
|
|
NM_001042492.3(NF1):c.2500C>T (p.Leu834=)
|
rs1597715242
|
|
NM_001042492.3(NF1):c.2508A>G (p.Glu836=)
|
rs1555614208
|
|
NM_001042492.3(NF1):c.2514C>T (p.Ile838=)
|
rs863224352
|
|
NM_001042492.3(NF1):c.2523T>G (p.Thr841=)
|
rs1597715281
|
|
NM_001042492.3(NF1):c.2526C>T (p.Gly842=)
|
|
|
NM_001042492.3(NF1):c.2529C>T (p.Phe843=)
|
|
|
NM_001042492.3(NF1):c.2532T>C (p.Leu844=)
|
rs2151429065
|
|
NM_001042492.3(NF1):c.2532T>G (p.Leu844=)
|
|
|
NM_001042492.3(NF1):c.2550G>A (p.Val850=)
|
rs772148227
|
|
NM_001042492.3(NF1):c.255T>C (p.Ile85=)
|
|
|
NM_001042492.3(NF1):c.2562G>A (p.Gln854=)
|
|
|
NM_001042492.3(NF1):c.2577C>A (p.Gly859=)
|
rs746208651
|
|
NM_001042492.3(NF1):c.2578C>T (p.Leu860=)
|
rs1597715404
|
|
NM_001042492.3(NF1):c.2583A>G (p.Ala861=)
|
rs1060503891
|
|
NM_001042492.3(NF1):c.2586C>G (p.Thr862=)
|
rs1567848941
|
|
NM_001042492.3(NF1):c.2586C>T (p.Thr862=)
|
rs1567848941
|
|
NM_001042492.3(NF1):c.2589T>C (p.Tyr863=)
|
rs587782814
|
|
NM_001042492.3(NF1):c.2625T>C (p.Gly875=)
|
|
|
NM_001042492.3(NF1):c.2634T>A (p.Ile878=)
|
rs758576740
|
|
NM_001042492.3(NF1):c.2637A>G (p.Ser879=)
|
rs1555614288
|
|
NM_001042492.3(NF1):c.2649A>G (p.Ser883=)
|
rs2067070240
|
|
NM_001042492.3(NF1):c.2652G>A (p.Glu884=)
|
rs757843283
|
|
NM_001042492.3(NF1):c.2661A>C (p.Ala887=)
|
rs1555614292
|
|
NM_001042492.3(NF1):c.2661A>G (p.Ala887=)
|
rs1555614292
|
|
NM_001042492.3(NF1):c.2670T>A (p.Pro890=)
|
|
|
NM_001042492.3(NF1):c.2679A>G (p.Lys893=)
|
|
|
NM_001042492.3(NF1):c.267A>C (p.Thr89=)
|
rs1597629858
|
|
NM_001042492.3(NF1):c.267A>T (p.Thr89=)
|
|
|
NM_001042492.3(NF1):c.2685G>A (p.Met895Ile)
|
rs770295902
|
|
NM_001042492.3(NF1):c.2694G>A (p.Leu898=)
|
rs1060503923
|
|
NM_001042492.3(NF1):c.2694G>C (p.Leu898=)
|
rs1060503923
|
|
NM_001042492.3(NF1):c.2700C>A (p.Ser900=)
|
|
|
NM_001042492.3(NF1):c.2700C>T (p.Ser900=)
|
|
|
NM_001042492.3(NF1):c.2703A>G (p.Leu901=)
|
rs2151429478
|
|
NM_001042492.3(NF1):c.2709G>T (p.Val903=)
|
rs771820789
|
|
NM_001042492.3(NF1):c.270G>C (p.Leu90=)
|
rs2065717955
|
|
NM_001042492.3(NF1):c.2718T>C (p.His906=)
|
|
|
NM_001042492.3(NF1):c.2721G>A (p.Glu907=)
|
rs2151429514
|
|
NM_001042492.3(NF1):c.2724A>G (p.Lys908=)
|
rs2151429525
|
|
NM_001042492.3(NF1):c.2727G>A (p.Val909=)
|
rs2151429530
|
|
NM_001042492.3(NF1):c.2730A>G (p.Gly910=)
|
|
|
NM_001042492.3(NF1):c.2740C>A (p.Arg914=)
|
rs765848298
|
|
NM_001042492.3(NF1):c.2742G>A (p.Arg914=)
|
rs1555614324
|
|
NM_001042492.3(NF1):c.2745C>A (p.Thr915=)
|
rs759465116
|
|
NM_001042492.3(NF1):c.2754G>A (p.Lys918=)
|
rs1555614330
|
|
NM_001042492.3(NF1):c.2760G>T (p.Leu920=)
|
rs1555614336
|
|
NM_001042492.3(NF1):c.2761G>A (p.Val921Met)
|
rs567023433
|
|
NM_001042492.3(NF1):c.2763G>A (p.Val921=)
|
rs1597715725
|
|
NM_001042492.3(NF1):c.2766T>G (p.Gly922=)
|
|
|
NM_001042492.3(NF1):c.2769A>G (p.Leu923=)
|
rs1450651152
|
|
NM_001042492.3(NF1):c.2769A>T (p.Leu923=)
|
|
|
NM_001042492.3(NF1):c.276A>G (p.Lys92=)
|
rs1060503900
|
|
NM_001042492.3(NF1):c.2772A>G (p.Glu924=)
|
|
|
NM_001042492.3(NF1):c.2773T>C (p.Leu925=)
|
rs2151429634
|
|
NM_001042492.3(NF1):c.2781T>A (p.Pro927=)
|
rs1555614337
|
|
NM_001042492.3(NF1):c.2781T>G (p.Pro927=)
|
rs1555614337
|
|
NM_001042492.3(NF1):c.2784T>C (p.Ala928=)
|
rs2151429665
|
|
NM_001042492.3(NF1):c.2799A>G (p.Leu933=)
|
rs1597715783
|
|
NM_001042492.3(NF1):c.279T>C (p.Cys93=)
|
rs1597629882
|
|
NM_001042492.3(NF1):c.2805C>T (p.Asn935=)
|
rs1060503894
|
|
NM_001042492.3(NF1):c.2809T>C (p.Leu937=)
|
|
|
NM_001042492.3(NF1):c.2811G>A (p.Leu937=)
|
|
|
NM_001042492.3(NF1):c.2817T>C (p.Asn939=)
|
rs2151429754
|
|
NM_001042492.3(NF1):c.2820C>G (p.Thr940=)
|
|
|
NM_001042492.3(NF1):c.2820C>T (p.Thr940=)
|
rs1597715827
|
|
NM_001042492.3(NF1):c.2829G>A (p.Lys943=)
|
rs1555614351
|
|
NM_001042492.3(NF1):c.2841C>G (p.Ser947=)
|
rs1555614355
|
|
NM_001042492.3(NF1):c.2841C>T (p.Ser947=)
|
rs1555614355
|
|
NM_001042492.3(NF1):c.2847A>G (p.Gly949=)
|
rs1555614361
|
|
NM_001042492.3(NF1):c.2850+10TC[3]
|
rs2151429886
|
|
NM_001042492.3(NF1):c.2850+13C>G
|
|
|
NM_001042492.3(NF1):c.2850+13C>T
|
rs777295195
|
|
NM_001042492.3(NF1):c.2850+15T>A
|
rs2151429901
|
|
NM_001042492.3(NF1):c.2850+15dup
|
|
|
NM_001042492.3(NF1):c.2850+16A>G
|
|
|
NM_001042492.3(NF1):c.2850+16_2850+17del
|
|
|
NM_001042492.3(NF1):c.2850+7T>A
|
|
|
NM_001042492.3(NF1):c.2850+7T>C
|
rs2151429871
|
|
NM_001042492.3(NF1):c.2850+7T>G
|
|
|
NM_001042492.3(NF1):c.2850+8G>A
|
rs780608020
|
|
NM_001042492.3(NF1):c.2850+9T>A
|
|
|
NM_001042492.3(NF1):c.2850+9T>C
|
rs749655343
|
|
NM_001042492.3(NF1):c.2851-10C>A
|
rs1555614412
|
|
NM_001042492.3(NF1):c.2851-10C>G
|
rs1555614412
|
|
NM_001042492.3(NF1):c.2851-10C>T
|
rs1555614412
|
|
NM_001042492.3(NF1):c.2851-13G>T
|
rs767526492
|
|
NM_001042492.3(NF1):c.2851-15T>C
|
|
|
NM_001042492.3(NF1):c.2851-17A>G
|
|
|
NM_001042492.3(NF1):c.2851-17A>T
|
|
|
NM_001042492.3(NF1):c.2851-18T>G
|
rs1397797552
|
|
NM_001042492.3(NF1):c.2851-19G>A
|
rs763885879
|
|
NM_001042492.3(NF1):c.2851-19G>C
|
|
|
NM_001042492.3(NF1):c.2851-20T>C
|
|
|
NM_001042492.3(NF1):c.2851-3del
|
rs876660379
|
|
NM_001042492.3(NF1):c.2851-6C>T
|
rs2151430447
|
|
NM_001042492.3(NF1):c.2851-7T>C
|
rs2151430446
|
|
NM_001042492.3(NF1):c.2856A>G (p.Leu952=)
|
rs750488772
|
|
NM_001042492.3(NF1):c.2857T>C (p.Leu953=)
|
rs2151430478
|
|
NM_001042492.3(NF1):c.2862T>A (p.Thr954=)
|
|
|
NM_001042492.3(NF1):c.2865T>C (p.Asp955=)
|
|
|
NM_001042492.3(NF1):c.2868C>T (p.Thr956=)
|
rs1597716290
|
|
NM_001042492.3(NF1):c.2871T>C (p.Asn957=)
|
rs2151430517
|
|
NM_001042492.3(NF1):c.288+10T>A
|
rs1364620059
|
|
NM_001042492.3(NF1):c.288+10T>G
|
rs1364620059
|
|
NM_001042492.3(NF1):c.288+18A>G
|
|
|
NM_001042492.3(NF1):c.288+19A>C
|
|
|
NM_001042492.3(NF1):c.288+20G>A
|
|
|
NM_001042492.3(NF1):c.2883A>G (p.Val961=)
|
rs2151430557
|
|
NM_001042492.3(NF1):c.289-15T>C
|
|
|
NM_001042492.3(NF1):c.289-18T>C
|
|
|
NM_001042492.3(NF1):c.289-18T>G
|
rs2065791450
|
|
NM_001042492.3(NF1):c.289-19G>A
|
|
|
NM_001042492.3(NF1):c.289-4T>A
|
rs1258767746
|
|
NM_001042492.3(NF1):c.289-6T>C
|
rs757074803
|
|
NM_001042492.3(NF1):c.289-8T>A
|
rs2143669988
|
|
NM_001042492.3(NF1):c.289-9C>T
|
rs2143669962
|
|
NM_001042492.3(NF1):c.2892C>A (p.Thr964=)
|
rs2151430591
|
|
NM_001042492.3(NF1):c.2892C>G (p.Thr964=)
|
rs2151430591
|
|
NM_001042492.3(NF1):c.2895A>C (p.Ile965=)
|
rs1597716325
|
|
NM_001042492.3(NF1):c.2911T>C (p.Leu971=)
|
|
|
NM_001042492.3(NF1):c.2913G>A (p.Leu971=)
|
|
|
NM_001042492.3(NF1):c.2914C>T (p.Leu972=)
|
rs2067083880
|
|
NM_001042492.3(NF1):c.291A>G (p.Gln97=)
|
rs1555606044
|
|
NM_001042492.3(NF1):c.2925T>C (p.His975=)
|
|
|
NM_001042492.3(NF1):c.2928T>C (p.Thr976=)
|
rs1555614446
|
|
NM_001042492.3(NF1):c.2931A>G (p.Glu977=)
|
rs1555614447
|
|
NM_001042492.3(NF1):c.2937C>T (p.Ser979=)
|
rs2151430707
|
|
NM_001042492.3(NF1):c.2940T>G (p.Ser980=)
|
|
|
NM_001042492.3(NF1):c.2946T>C (p.His982=)
|
|
|
NM_001042492.3(NF1):c.2949A>G (p.Leu983=)
|
rs1555614452
|
|
NM_001042492.3(NF1):c.2955A>G (p.Gln985=)
|
|
|
NM_001042492.3(NF1):c.2967A>G (p.Glu989=)
|
|
|
NM_001042492.3(NF1):c.2977T>C (p.Leu993=)
|
rs1597716461
|
|
NM_001042492.3(NF1):c.2990+12A>G
|
rs543543885
|
|
NM_001042492.3(NF1):c.2990+13C>G
|
|
|
NM_001042492.3(NF1):c.2990+13C>T
|
|
|
NM_001042492.3(NF1):c.2990+19T>C
|
|
|
NM_001042492.3(NF1):c.2990+4_2990+7dup
|
|
|
NM_001042492.3(NF1):c.2990+7A>C
|
rs1555614465
|
|
NM_001042492.3(NF1):c.2990+7A>G
|
rs1555614465
|
|
NM_001042492.3(NF1):c.2990+7A>T
|
rs1555614465
|
|
NM_001042492.3(NF1):c.2991-10G>T
|
|
|
NM_001042492.3(NF1):c.2991-12A>C
|
rs760838737
|
|
NM_001042492.3(NF1):c.2991-14C>T
|
rs2067089474
|
|
NM_001042492.3(NF1):c.2991-18G>C
|
rs2067089429
|
|
NM_001042492.3(NF1):c.2991-18G>T
|
|
|
NM_001042492.3(NF1):c.2991-19T>C
|
|
|
NM_001042492.3(NF1):c.2991-20T>A
|
|
|
NM_001042492.3(NF1):c.2991-20T>C
|
rs374614629
|
|
NM_001042492.3(NF1):c.2991-7T>C
|
|
|
NM_001042492.3(NF1):c.2991-8C>T
|
rs2067089793
|
|
NM_001042492.3(NF1):c.2994T>C (p.Tyr998=)
|
rs1188437940
|
|
NM_001042492.3(NF1):c.3003G>A (p.Val1001=)
|
rs2151431493
|
|
NM_001042492.3(NF1):c.3003G>T (p.Val1001=)
|
|
|
NM_001042492.3(NF1):c.3006T>C (p.Leu1002=)
|
rs2151431504
|
|
NM_001042492.3(NF1):c.3009G>A (p.Gly1003=)
|
rs780895334
|
|
NM_001042492.3(NF1):c.3030A>G (p.Gln1010=)
|
rs1405071456
|
|
NM_001042492.3(NF1):c.303A>G (p.Thr101=)
|
rs1597635650
|
|
NM_001042492.3(NF1):c.3045G>C (p.Leu1015=)
|
rs926335233
|
|
NM_001042492.3(NF1):c.3051A>G (p.Gln1017=)
|
rs201891488
|
|
NM_001042492.3(NF1):c.3072A>C (p.Ala1024=)
|
rs2151431674
|
|
NM_001042492.3(NF1):c.3081T>C (p.Asp1027=)
|
rs1555614532
|
|
NM_001042492.3(NF1):c.3084C>T (p.Asp1028=)
|
rs1235103530
|
|
NM_001042492.3(NF1):c.3090A>G (p.Ser1030=)
|
|
|
NM_001042492.3(NF1):c.3093T>C (p.Phe1031=)
|
rs2067092711
|
|
NM_001042492.3(NF1):c.3096C>T (p.Cys1032=)
|
|
|
NM_001042492.3(NF1):c.309A>G (p.Arg103=)
|
|
|
NM_001042492.3(NF1):c.3102G>A (p.Glu1034=)
|
rs1555614536
|
|
NM_001042492.3(NF1):c.310T>C (p.Leu104=)
|
|
|
NM_001042492.3(NF1):c.3113+11A>G
|
rs1412794676
|
|
NM_001042492.3(NF1):c.3113+12A>G
|
rs1473649252
|
|
NM_001042492.3(NF1):c.3113+14A>G
|
|
|
NM_001042492.3(NF1):c.3113+15G>C
|
|
|
NM_001042492.3(NF1):c.3113+17G>A
|
|
|
NM_001042492.3(NF1):c.3113+18C>T
|
|
|
NM_001042492.3(NF1):c.3113+19A>C
|
rs2067093540
|
|
NM_001042492.3(NF1):c.3113+20A>G
|
rs766592735
|
|
NM_001042492.3(NF1):c.3113+8C>A
|
|
|
NM_001042492.3(NF1):c.3114-10C>T
|
rs2151432319
|
|
NM_001042492.3(NF1):c.3114-13C>T
|
|
|
NM_001042492.3(NF1):c.3114-14C>G
|
|
|
NM_001042492.3(NF1):c.3114-14C>T
|
|
|
NM_001042492.3(NF1):c.3114-16C>G
|
|
|
NM_001042492.3(NF1):c.3114-4A>C
|
rs201550230
|
|
NM_001042492.3(NF1):c.3114-4A>T
|
rs201550230
|
|
NM_001042492.3(NF1):c.3114-6C>T
|
|
|
NM_001042492.3(NF1):c.3114-9A>G
|
|
|
NM_001042492.3(NF1):c.3114-9A>T
|
|
|
NM_001042492.3(NF1):c.3120G>A (p.Lys1040=)
|
|
|
NM_001042492.3(NF1):c.3126A>G (p.Val1042=)
|
rs2151432376
|
|
NM_001042492.3(NF1):c.3129A>G (p.Glu1043=)
|
rs1597717530
|
|
NM_001042492.3(NF1):c.3133C>T (p.Leu1045=)
|
rs1555614626
|
|
NM_001042492.3(NF1):c.3138A>G (p.Thr1046=)
|
rs2151432405
|
|
NM_001042492.3(NF1):c.3156A>C (p.Thr1052=)
|
|
|
NM_001042492.3(NF1):c.3156A>G (p.Thr1052=)
|
rs1597717604
|
|
NM_001042492.3(NF1):c.3162C>T (p.Asn1054=)
|
rs2151432466
|
|
NM_001042492.3(NF1):c.3165A>G (p.Gln1055=)
|
|
|
NM_001042492.3(NF1):c.3168A>G (p.Ala1056=)
|
rs2067102179
|
|
NM_001042492.3(NF1):c.3171A>G (p.Ala1057=)
|
rs2067102269
|
|
NM_001042492.3(NF1):c.3180T>C (p.Asp1060=)
|
rs1555614646
|
|
NM_001042492.3(NF1):c.3183A>G (p.Val1061=)
|
rs2151432519
|
|
NM_001042492.3(NF1):c.3186A>G (p.Lys1062=)
|
rs2151432524
|
|
NM_001042492.3(NF1):c.318A>G (p.Glu106=)
|
rs2143670842
|
|
NM_001042492.3(NF1):c.3192T>C (p.Leu1064=)
|
rs1555614649
|
|
NM_001042492.3(NF1):c.3195A>G (p.Thr1065=)
|
rs1555614650
|
|
NM_001042492.3(NF1):c.3197+12A>G
|
|
|
NM_001042492.3(NF1):c.3197+16C>A
|
|
|
NM_001042492.3(NF1):c.3197+18T>G
|
|
|
NM_001042492.3(NF1):c.3197+19T>G
|
rs2151432590
|
|
NM_001042492.3(NF1):c.3197+20C>A
|
|
|
NM_001042492.3(NF1):c.3197+7_3197+9del
|
rs755212937
|
|
NM_001042492.3(NF1):c.3197+9A>G
|
|
|
NM_001042492.3(NF1):c.3197+9_3197+10insT
|
|
|
NM_001042492.3(NF1):c.3197+9del
|
rs755212937
|
|
NM_001042492.3(NF1):c.3198-314G>T
|
|
|
NM_001042492.3(NF1):c.3198-4_3198-3insGT
|
rs745559136
|
|
NM_001042492.3(NF1):c.3198-4_3198-3insTC
|
rs864622717
|
|
NM_001042492.3(NF1):c.3198-4_3198-3insTCT
|
|
|
NM_001042492.3(NF1):c.3198-4_3198-3insTGT
|
rs745559136
|
|
NM_001042492.3(NF1):c.3198-4_3198-3insTGTTT
|
rs1597718644
|
|
NM_001042492.3(NF1):c.3198-4_3198-3insTTC
|
rs864622717
|
|
NM_001042492.3(NF1):c.3198-4_3198-3insTTCTT
|
rs2151433594
|
|
NM_001042492.3(NF1):c.3198-4_3198-3insTTTC
|
rs864622717
|
|
NM_001042492.3(NF1):c.3198-4_3198-3insTTTTTC
|
rs864622717
|
|
NM_001042492.3(NF1):c.3198-5T>G
|
rs587782639
|
|
NM_001042492.3(NF1):c.3198-5_3198-4insC
|
rs1555614804
|
|
NM_001042492.3(NF1):c.3198-5_3198-4insG
|
|
|
NM_001042492.3(NF1):c.3198-6T>C
|
rs1312294373
|
|
NM_001042492.3(NF1):c.3198-6_3198-3dup
|
rs1597718647
|
|
NM_001042492.3(NF1):c.3198-7T>G
|
rs2067120590
|
|
NM_001042492.3(NF1):c.3198-7_3198-6insG
|
|
|
NM_001042492.3(NF1):c.3198-8T>G
|
rs2067120553
|
|
NM_001042492.3(NF1):c.3198-9T>G
|
rs1316749264
|
|
NM_001042492.3(NF1):c.3198A>G (p.Arg1066=)
|
rs864622469
|
|
NM_001042492.3(NF1):c.3213A>G (p.Ala1071=)
|
rs786202077
|
|
NM_001042492.3(NF1):c.321G>T (p.Thr107=)
|
|
|
NM_001042492.3(NF1):c.3222A>G (p.Glu1074=)
|
rs2151433705
|
|
NM_001042492.3(NF1):c.3225A>G (p.Ala1075=)
|
rs746022492
|
|
NM_001042492.3(NF1):c.3231T>A (p.Val1077=)
|
rs2151433723
|
|
NM_001042492.3(NF1):c.3234A>C (p.Ser1078=)
|
rs2151433727
|
|
NM_001042492.3(NF1):c.3234A>T (p.Ser1078=)
|
rs2151433727
|
|
NM_001042492.3(NF1):c.3238C>T (p.Leu1080=)
|
rs1555614832
|
|
NM_001042492.3(NF1):c.3243T>A (p.Ala1081=)
|
rs1567850679
|
|
NM_001042492.3(NF1):c.3246T>A (p.Gly1082=)
|
rs876660670
|
|
NM_001042492.3(NF1):c.3249C>T (p.Leu1083=)
|
|
|
NM_001042492.3(NF1):c.3252T>C (p.Pro1084=)
|
rs2151433765
|
|
NM_001042492.3(NF1):c.3255G>A (p.Leu1085=)
|
|
|
NM_001042492.3(NF1):c.3258G>A (p.Gln1086=)
|
rs876660736
|
|
NM_001042492.3(NF1):c.325C>T (p.Leu109=)
|
|
|
NM_001042492.3(NF1):c.3267A>G (p.Glu1089=)
|
rs1156280518
|
|
NM_001042492.3(NF1):c.3273T>C (p.Asp1091=)
|
rs1131691124
|
|
NM_001042492.3(NF1):c.3276T>C (p.Gly1092=)
|
rs763555840
|
|
NM_001042492.3(NF1):c.3276T>G (p.Gly1092=)
|
rs763555840
|
|
NM_001042492.3(NF1):c.3279G>A (p.Val1093=)
|
rs769134583
|
|
NM_001042492.3(NF1):c.327G>A (p.Leu109=)
|
rs2143671003
|
|
NM_001042492.3(NF1):c.327G>T (p.Leu109=)
|
rs2143671003
|
|
NM_001042492.3(NF1):c.3283T>C (p.Leu1095=)
|
rs1597718850
|
|
NM_001042492.3(NF1):c.3297A>G (p.Lys1099=)
|
|
|
NM_001042492.3(NF1):c.3300A>G (p.Ser1100=)
|
rs1060503915
|
|
NM_001042492.3(NF1):c.3309T>C (p.Phe1103=)
|
rs2151433905
|
|
NM_001042492.3(NF1):c.3314+8T>G
|
|
|
NM_001042492.3(NF1):c.3315-10T>C
|
rs759279011
|
|
NM_001042492.3(NF1):c.3315-11_3315-10del
|
rs892809261
|
|
NM_001042492.3(NF1):c.3315-18A>G
|
rs2067133614
|
|
NM_001042492.3(NF1):c.3315-19C>T
|
|
|
NM_001042492.3(NF1):c.3315-20T>C
|
|
|
NM_001042492.3(NF1):c.3315-20T>G
|
rs558019436
|
|
NM_001042492.3(NF1):c.3315-6T>C
|
rs2151434424
|
|
NM_001042492.3(NF1):c.3318C>T (p.Tyr1106=)
|
rs876659289
|
|
NM_001042492.3(NF1):c.3325T>C (p.Leu1109=)
|
|
|
NM_001042492.3(NF1):c.3336C>T (p.Asn1112=)
|
rs1060500262
|
|
NM_001042492.3(NF1):c.3339T>G (p.Leu1113=)
|
|
|
NM_001042492.3(NF1):c.3340T>C (p.Leu1114=)
|
rs1555614928
|
|
NM_001042492.3(NF1):c.3354T>C (p.Ser1118=)
|
rs2151434529
|
|
NM_001042492.3(NF1):c.3360T>C (p.Val1120=)
|
|
|
NM_001042492.3(NF1):c.3363A>G (p.Glu1121=)
|
rs2151434555
|
|
NM_001042492.3(NF1):c.3366T>C (p.Asp1122=)
|
rs1597719465
|
|
NM_001042492.3(NF1):c.3372T>C (p.Ser1124=)
|
|
|
NM_001042492.3(NF1):c.3375G>A (p.Ala1125=)
|
rs112589561
|
|
NM_001042492.3(NF1):c.3375G>T (p.Ala1125=)
|
rs112589561
|
|
NM_001042492.3(NF1):c.3384T>C (p.Gly1128=)
|
|
|
NM_001042492.3(NF1):c.3396T>C (p.Arg1132=)
|
|
|
NM_001042492.3(NF1):c.3405T>G (p.Ser1135=)
|
rs2151434652
|
|
NM_001042492.3(NF1):c.3417A>C (p.Ala1139=)
|
rs864622524
|
|
NM_001042492.3(NF1):c.3417A>G (p.Ala1139=)
|
rs864622524
|
|
NM_001042492.3(NF1):c.3417A>T (p.Ala1139=)
|
rs864622524
|
|
NM_001042492.3(NF1):c.3420A>G (p.Ser1140=)
|
rs1555614961
|
|
NM_001042492.3(NF1):c.3420A>T (p.Ser1140=)
|
rs1555614961
|
|
NM_001042492.3(NF1):c.3423G>C (p.Leu1141=)
|
rs748691653
|
|
NM_001042492.3(NF1):c.3426G>A (p.Arg1142=)
|
rs1597719572
|
|
NM_001042492.3(NF1):c.3429C>T (p.His1143=)
|
|
|
NM_001042492.3(NF1):c.3435G>A (p.Thr1145=)
|
rs772432150
|
|
NM_001042492.3(NF1):c.3435G>T (p.Thr1145=)
|
rs772432150
|
|
NM_001042492.3(NF1):c.3438C>T (p.Val1146=)
|
rs876659646
|
|
NM_001042492.3(NF1):c.3453C>T (p.Asn1151=)
|
rs2151434768
|
|
NM_001042492.3(NF1):c.3459C>T (p.Leu1153=)
|
rs2151434787
|
|
NM_001042492.3(NF1):c.3483C>A (p.Leu1161=)
|
rs1597719677
|
|
NM_001042492.3(NF1):c.3483C>T (p.Leu1161=)
|
|
|
NM_001042492.3(NF1):c.3492C>T (p.Ser1164=)
|
rs370206701
|
|
NM_001042492.3(NF1):c.3496+11A>G
|
rs2151434924
|
|
NM_001042492.3(NF1):c.3496+13G>A
|
|
|
NM_001042492.3(NF1):c.3496+14A>G
|
rs2151434934
|
|
NM_001042492.3(NF1):c.3496+15A>G
|
|
|
NM_001042492.3(NF1):c.3496+16A>G
|
|
|
NM_001042492.3(NF1):c.3496+17G>C
|
|
|
NM_001042492.3(NF1):c.3496+20del
|
|
|
NM_001042492.3(NF1):c.3496+7T>C
|
rs1060503921
|
|
NM_001042492.3(NF1):c.3496+8C>G
|
|
|
NM_001042492.3(NF1):c.3497-12T>A
|
rs753605564
|
|
NM_001042492.3(NF1):c.3497-12T>G
|
|
|
NM_001042492.3(NF1):c.3497-17C>G
|
|
|
NM_001042492.3(NF1):c.3497-19A>G
|
rs760615401
|
|
NM_001042492.3(NF1):c.3497-19A>T
|
|
|
NM_001042492.3(NF1):c.3497-5A>G
|
rs876660405
|
|
NM_001042492.3(NF1):c.3497-7A>T
|
rs2151435235
|
|
NM_001042492.3(NF1):c.3497-8C>A
|
|
|
NM_001042492.3(NF1):c.3497-8C>G
|
rs1339536459
|
|
NM_001042492.3(NF1):c.3497-8C>T
|
|
|
NM_001042492.3(NF1):c.3497-9C>T
|
rs2151435228
|
|
NM_001042492.3(NF1):c.3498C>G (p.Gly1166=)
|
|
|
NM_001042492.3(NF1):c.3513G>A (p.Lys1171=)
|
rs765438014
|
|
NM_001042492.3(NF1):c.3519C>T (p.Leu1173=)
|
rs1555615020
|
|
NM_001042492.3(NF1):c.3531T>C (p.Ala1177=)
|
|
|
NM_001042492.3(NF1):c.3534A>G (p.Thr1178=)
|
rs876658210
|
|
NM_001042492.3(NF1):c.3549G>A (p.Leu1183=)
|
rs1051842
|
|
NM_001042492.3(NF1):c.3549G>C (p.Leu1183=)
|
rs1051842
|
|
NM_001042492.3(NF1):c.3555A>G (p.Lys1185=)
|
|
|
NM_001042492.3(NF1):c.357T>C (p.His119=)
|
|
|
NM_001042492.3(NF1):c.3582C>T (p.Asp1194=)
|
rs1555615036
|
|
NM_001042492.3(NF1):c.3591A>G (p.Ala1197=)
|
rs2151435527
|
|
NM_001042492.3(NF1):c.3600A>G (p.Val1200=)
|
rs2151435557
|
|
NM_001042492.3(NF1):c.3600A>T (p.Val1200=)
|
|
|
NM_001042492.3(NF1):c.360T>C (p.Phe120=)
|
rs1597635781
|
|
NM_001042492.3(NF1):c.3610C>A (p.Arg1204=)
|
rs199474732
|
|
NM_001042492.3(NF1):c.3622T>C (p.Leu1208=)
|
rs2151435620
|
|
NM_001042492.3(NF1):c.3624G>A (p.Leu1208=)
|
rs1597720089
|
|
NM_001042492.3(NF1):c.3627G>A (p.Val1209=)
|
|
|
NM_001042492.3(NF1):c.3636C>T (p.Val1212=)
|
rs145126193
|
|
NM_001042492.3(NF1):c.3639A>G (p.Thr1213=)
|
rs1555615069
|
|
NM_001042492.3(NF1):c.3648T>A (p.Gly1216=)
|
rs1060503897
|
|
NM_001042492.3(NF1):c.3651T>C (p.Asp1217=)
|
|
|
NM_001042492.3(NF1):c.3660A>G (p.Glu1220=)
|
rs1597720161
|
|
NM_001042492.3(NF1):c.3663C>T (p.Leu1221=)
|
rs771507034
|
|
NM_001042492.3(NF1):c.3666T>C (p.Pro1222=)
|
|
|
NM_001042492.3(NF1):c.3672G>C (p.Ala1224=)
|
|
|
NM_001042492.3(NF1):c.3687T>C (p.Asn1229=)
|
rs752937870
|
|
NM_001042492.3(NF1):c.3690G>A (p.Val1230=)
|
rs183296277
|
|
NM_001042492.3(NF1):c.3696T>A (p.Pro1232=)
|
rs1168798963
|
|
NM_001042492.3(NF1):c.3699T>C (p.Cys1233=)
|
rs2067145396
|
|
NM_001042492.3(NF1):c.369C>T (p.Thr123=)
|
rs146691765
|
|
NM_001042492.3(NF1):c.3708+10T>G
|
|
|
NM_001042492.3(NF1):c.3708+12G>C
|
|
|
NM_001042492.3(NF1):c.3708+13A>C
|
rs2151435858
|
|
NM_001042492.3(NF1):c.3708+16A>G
|
|
|
NM_001042492.3(NF1):c.3708+16A>T
|
rs2151435863
|
|
NM_001042492.3(NF1):c.3708+18G>A
|
rs2151435867
|
|
NM_001042492.3(NF1):c.3708+19C>G
|
|
|
NM_001042492.3(NF1):c.3708+19del
|
|
|
NM_001042492.3(NF1):c.3708+20G>C
|
|
|
NM_001042492.3(NF1):c.3708+7G>A
|
rs1555615115
|
|
NM_001042492.3(NF1):c.3708+8A>G
|
rs1173930586
|
|
NM_001042492.3(NF1):c.3709-10T>C
|
rs878853887
|
|
NM_001042492.3(NF1):c.3709-15T>C
|
|
|
NM_001042492.3(NF1):c.3709-19G>C
|
|
|
NM_001042492.3(NF1):c.3709-20T>C
|
rs2151437644
|
|
NM_001042492.3(NF1):c.3709-20T>G
|
rs2151437644
|
|
NM_001042492.3(NF1):c.3709-5C>T
|
rs1390680821
|
|
NM_001042492.3(NF1):c.3709-6T>C
|
|
|
NM_001042492.3(NF1):c.3709-9T>C
|
|
|
NM_001042492.3(NF1):c.3714A>G (p.Glu1238=)
|
rs1597722384
|
|
NM_001042492.3(NF1):c.3726T>A (p.Val1242=)
|
rs878853888
|
|
NM_001042492.3(NF1):c.3729G>A (p.Leu1243=)
|
rs2067185950
|
|
NM_001042492.3(NF1):c.3729G>C (p.Leu1243=)
|
|
|
NM_001042492.3(NF1):c.372T>C (p.Cys124=)
|
rs1555606078
|
|
NM_001042492.3(NF1):c.3738G>C (p.Leu1246=)
|
|
|
NM_001042492.3(NF1):c.3741T>C (p.Phe1247=)
|
|
|
NM_001042492.3(NF1):c.3750G>C (p.Arg1250=)
|
|
|
NM_001042492.3(NF1):c.3756A>G (p.Leu1252=)
|
rs1298630862
|
|
NM_001042492.3(NF1):c.375T>C (p.Arg125=)
|
|
|
NM_001042492.3(NF1):c.3762C>T (p.Tyr1254=)
|
rs2151437835
|
|
NM_001042492.3(NF1):c.3766C>T (p.Leu1256=)
|
rs876659360
|
|
NM_001042492.3(NF1):c.3771C>G (p.Leu1257=)
|
rs2067187244
|
|
NM_001042492.3(NF1):c.3771C>T (p.Leu1257=)
|
|
|
NM_001042492.3(NF1):c.3777C>T (p.Asn1259=)
|
rs2151437873
|
|
NM_001042492.3(NF1):c.3786T>C (p.Ser1262=)
|
rs786201645
|
|
NM_001042492.3(NF1):c.378A>G (p.Glu126=)
|
rs786201914
|
|
NM_001042492.3(NF1):c.3795A>G (p.Val1265=)
|
rs2151437907
|
|
NM_001042492.3(NF1):c.3801G>A (p.Leu1267=)
|
rs786201366
|
|
NM_001042492.3(NF1):c.3804A>T (p.Ala1268=)
|
rs547293714
|
|
NM_001042492.3(NF1):c.3807C>T (p.Asp1269=)
|
|
|
NM_001042492.3(NF1):c.3816G>A (p.Gln1272=)
|
|
|
NM_001042492.3(NF1):c.3826C>A (p.Arg1276=)
|
rs199474742
|
|
NM_001042492.3(NF1):c.3849A>G (p.Lys1283=)
|
rs1597722644
|
|
NM_001042492.3(NF1):c.384C>T (p.Asn128=)
|
rs1597635852
|
|
NM_001042492.3(NF1):c.3861C>T (p.Phe1287=)
|
rs749107019
|
|
NM_001042492.3(NF1):c.3864T>C (p.Cys1288=)
|
rs1555615495
|
|
NM_001042492.3(NF1):c.3870+10del
|
|
|
NM_001042492.3(NF1):c.3870+11T>C
|
rs2151438106
|
|
NM_001042492.3(NF1):c.3870+14A>G
|
rs2151438115
|
|
NM_001042492.3(NF1):c.3870+16T>C
|
rs2151438124
|
|
NM_001042492.3(NF1):c.3870+20T>C
|
|
|
NM_001042492.3(NF1):c.3870+4T>C
|
rs1555615499
|
|
NM_001042492.3(NF1):c.3870+6dup
|
|
|
NM_001042492.3(NF1):c.3870+7A>G
|
rs774649948
|
|
NM_001042492.3(NF1):c.3870+9C>A
|
|
|
NM_001042492.3(NF1):c.3871-10A>G
|
rs1597722878
|
|
NM_001042492.3(NF1):c.3871-12G>A
|
|
|
NM_001042492.3(NF1):c.3871-14G>C
|
|
|
NM_001042492.3(NF1):c.3871-14G>T
|
|
|
NM_001042492.3(NF1):c.3871-17T>A
|
|
|
NM_001042492.3(NF1):c.3871-18_3871-17del
|
|
|
NM_001042492.3(NF1):c.3871-20C>T
|
rs778536665
|
|
NM_001042492.3(NF1):c.3871-4G>A
|
rs558421445
|
|
NM_001042492.3(NF1):c.3871-4G>T
|
|
|
NM_001042492.3(NF1):c.3871-8T>A
|
|
|
NM_001042492.3(NF1):c.3873A>G (p.Val1291=)
|
rs1250496630
|
|
NM_001042492.3(NF1):c.3876T>C (p.Tyr1292=)
|
rs2067193414
|
|
NM_001042492.3(NF1):c.387G>A (p.Gln129=)
|
rs1390215440
|
|
NM_001042492.3(NF1):c.3882T>C (p.Ala1294=)
|
|
|
NM_001042492.3(NF1):c.3885C>T (p.Thr1295=)
|
rs773942090
|
|
NM_001042492.3(NF1):c.3888T>C (p.Tyr1296=)
|
|
|
NM_001042492.3(NF1):c.3900C>A (p.Leu1300=)
|
rs1597722945
|
|
NM_001042492.3(NF1):c.3901C>T (p.Leu1301=)
|
rs2151438571
|
|
NM_001042492.3(NF1):c.3903G>A (p.Leu1301=)
|
rs876660789
|
|
NM_001042492.3(NF1):c.3906T>C (p.Asp1302=)
|
rs549058591
|
|
NM_001042492.3(NF1):c.3909T>C (p.Pro1303=)
|
|
|
NM_001042492.3(NF1):c.3924G>A (p.Val1308=)
|
|
|
NM_001042492.3(NF1):c.3924G>T (p.Val1308=)
|
|
|
NM_001042492.3(NF1):c.3930A>T (p.Thr1310=)
|
|
|
NM_001042492.3(NF1):c.3939T>C (p.Asp1313=)
|
rs864622325
|
|
NM_001042492.3(NF1):c.393A>T (p.Ala131=)
|
|
|
NM_001042492.3(NF1):c.394G>A (p.Ala132Thr)
|
|
|
NM_001042492.3(NF1):c.3951T>C (p.Val1317=)
|
rs1597723015
|
|
NM_001042492.3(NF1):c.3960A>G (p.Glu1320=)
|
rs1555615564
|
|
NM_001042492.3(NF1):c.396T>C (p.Ala132=)
|
rs2143672460
|
|
NM_001042492.3(NF1):c.3974+14T>A
|
|
|
NM_001042492.3(NF1):c.3974+14T>C
|
|
|
NM_001042492.3(NF1):c.3974+17C>G
|
rs975843462
|
|
NM_001042492.3(NF1):c.3974+20A>G
|
|
|
NM_001042492.3(NF1):c.3974+7C>T
|
rs2151438718
|
|
NM_001042492.3(NF1):c.3974+8A>G
|
rs2067195955
|
|
NM_001042492.3(NF1):c.3975-12A>G
|
rs750100751
|
|
NM_001042492.3(NF1):c.3975-12A>T
|
rs750100751
|
|
NM_001042492.3(NF1):c.3975-14T>C
|
rs1378636164
|
|
NM_001042492.3(NF1):c.3975-17T>C
|
|
|
NM_001042492.3(NF1):c.3975-18A>T
|
rs2151451232
|
|
NM_001042492.3(NF1):c.3975-18_3975-16del
|
rs2151451231
|
|
NM_001042492.3(NF1):c.3975-4G>C
|
rs760207624
|
|
NM_001042492.3(NF1):c.3975-4G>T
|
|
|
NM_001042492.3(NF1):c.3975-6T>C
|
|
|
NM_001042492.3(NF1):c.3975-7T>G
|
|
|
NM_001042492.3(NF1):c.3975-9T>A
|
rs2151451257
|
|
NM_001042492.3(NF1):c.3976T>C (p.Leu1326=)
|
rs765957571
|
|
NM_001042492.3(NF1):c.3978A>G (p.Leu1326=)
|
rs876660506
|
|
NM_001042492.3(NF1):c.3981A>G (p.Glu1327=)
|
|
|
NM_001042492.3(NF1):c.3990G>A (p.Glu1330=)
|
rs863224353
|
|
NM_001042492.3(NF1):c.3996T>A (p.Leu1332=)
|
|
|
NM_001042492.3(NF1):c.399A>G (p.Glu133=)
|
rs1597635911
|
|
NM_001042492.3(NF1):c.4005C>T (p.Asn1335=)
|
|
|
NM_001042492.3(NF1):c.4009C>A (p.Arg1337=)
|
rs146306756
|
|
NM_001042492.3(NF1):c.4011G>C (p.Arg1337=)
|
rs2067448681
|
|
NM_001042492.3(NF1):c.4017C>A (p.Leu1339=)
|
rs778993658
|
|
NM_001042492.3(NF1):c.4020T>C (p.Leu1340=)
|
rs863224354
|
|
NM_001042492.3(NF1):c.4035G>A (p.Lys1345=)
|
rs2151451447
|
|
NM_001042492.3(NF1):c.4038C>T (p.Phe1346=)
|
|
|
NM_001042492.3(NF1):c.4047C>T (p.Ala1349=)
|
rs752621693
|
|
NM_001042492.3(NF1):c.4050C>T (p.Ile1350=)
|
|
|
NM_001042492.3(NF1):c.4051A>G (p.Ile1351Val)
|
|
|
NM_001042492.3(NF1):c.4062C>G (p.Ser1354=)
|
rs1597735169
|
|
NM_001042492.3(NF1):c.4062C>T (p.Ser1354=)
|
rs1597735169
|
|
NM_001042492.3(NF1):c.4074C>G (p.Pro1358=)
|
rs757398594
|
|
NM_001042492.3(NF1):c.4077T>C (p.Pro1359=)
|
rs1555617366
|
|
NM_001042492.3(NF1):c.4080A>G (p.Gln1360=)
|
|
|
NM_001042492.3(NF1):c.4092G>A (p.Val1364=)
|
|
|
NM_001042492.3(NF1):c.4095C>T (p.Cys1365=)
|
rs1060503922
|
|
NM_001042492.3(NF1):c.4098C>T (p.His1366=)
|
|
|
NM_001042492.3(NF1):c.4104A>G (p.Leu1368=)
|
rs2151451667
|
|
NM_001042492.3(NF1):c.4107C>T (p.Tyr1369=)
|
rs1597735272
|
|
NM_001042492.3(NF1):c.4110+10C>T
|
rs776277455
|
|
NM_001042492.3(NF1):c.4110+11A>C
|
|
|
NM_001042492.3(NF1):c.4110+11A>T
|
|
|
NM_001042492.3(NF1):c.4110+15A>G
|
rs1331795815
|
|
NM_001042492.3(NF1):c.4110+18G>A
|
rs2151451783
|
|
NM_001042492.3(NF1):c.4110+19A>G
|
|
|
NM_001042492.3(NF1):c.4110+19del
|
|
|
NM_001042492.3(NF1):c.4110+7T>G
|
rs2151451721
|
|
NM_001042492.3(NF1):c.4110+8T>C
|
rs2151451725
|
|
NM_001042492.3(NF1):c.4110+9A>T
|
rs1555617387
|
|
NM_001042492.3(NF1):c.411T>C (p.Ser137=)
|
|
|
NM_001042492.3(NF1):c.414C>T (p.Ala138=)
|
rs1597635949
|
|
NM_001042492.3(NF1):c.4174-10T>C
|
rs1343858579
|
|
NM_001042492.3(NF1):c.4174-13T>A
|
rs2067619527
|
|
NM_001042492.3(NF1):c.4174-13T>C
|
|
|
NM_001042492.3(NF1):c.4174-14C>A
|
|
|
NM_001042492.3(NF1):c.4174-15A>C
|
rs2151461679
|
|
NM_001042492.3(NF1):c.4174-17C>G
|
rs2151461668
|
|
NM_001042492.3(NF1):c.4174-5T>C
|
|
|
NM_001042492.3(NF1):c.4174-7T>A
|
|
|
NM_001042492.3(NF1):c.4174-8G>A
|
|
|
NM_001042492.3(NF1):c.4174-8G>T
|
rs747595222
|
|
NM_001042492.3(NF1):c.4174-8_4174-7del
|
|
|
NM_001042492.3(NF1):c.4174-9T>C
|
|
|
NM_001042492.3(NF1):c.4179T>A (p.Val1393=)
|
rs2151461759
|
|
NM_001042492.3(NF1):c.4185G>A (p.Gln1395=)
|
rs775206746
|
|
NM_001042492.3(NF1):c.4188T>A (p.Arg1396=)
|
rs1555618496
|
|
NM_001042492.3(NF1):c.4200C>T (p.Asn1400=)
|
rs2151461842
|
|
NM_001042492.3(NF1):c.4203C>T (p.Ser1401=)
|
rs991237227
|
|
NM_001042492.3(NF1):c.4209T>C (p.Gly1403=)
|
rs761772247
|
|
NM_001042492.3(NF1):c.420G>A (p.Gly140=)
|
rs1597635982
|
|
NM_001042492.3(NF1):c.4234A>C (p.Arg1412=)
|
rs1555618515
|
|
NM_001042492.3(NF1):c.4242C>T (p.Ile1414=)
|
rs2151461973
|
|
NM_001042492.3(NF1):c.4251C>T (p.Ala1417=)
|
rs1555618524
|
|
NM_001042492.3(NF1):c.4257C>T (p.Val1419=)
|
rs886038395
|
|
NM_001042492.3(NF1):c.4263G>T (p.Pro1421=)
|
rs201648604
|
|
NM_001042492.3(NF1):c.4266T>C (p.Tyr1422=)
|
|
|
NM_001042492.3(NF1):c.426A>G (p.Leu142=)
|
rs2065794926
|
|
NM_001042492.3(NF1):c.4275G>A (p.Gly1425=)
|
rs1555618548
|
|
NM_001042492.3(NF1):c.4284T>C (p.Asp1428=)
|
rs1555618550
|
|
NM_001042492.3(NF1):c.4287A>G (p.Lys1429=)
|
|
|
NM_001042492.3(NF1):c.4296A>C (p.Pro1432=)
|
rs864622492
|
|
NM_001042492.3(NF1):c.4302A>G (p.Arg1434=)
|
rs1209779641
|
|
NM_001042492.3(NF1):c.4305C>T (p.Ile1435=)
|
rs779865988
|
|
NM_001042492.3(NF1):c.4311G>A (p.Arg1437=)
|
rs1060503896
|
|
NM_001042492.3(NF1):c.4320G>A (p.Lys1440=)
|
|
|
NM_001042492.3(NF1):c.4321T>C (p.Leu1441=)
|
rs786201458
|
|
NM_001042492.3(NF1):c.4329A>G (p.Ser1443=)
|
|
|
NM_001042492.3(NF1):c.432T>C (p.Ser144=)
|
rs2143673083
|
|
NM_001042492.3(NF1):c.4332+14A>G
|
rs2151462264
|
|
NM_001042492.3(NF1):c.4332+15T>A
|
rs760471835
|
|
NM_001042492.3(NF1):c.4332+20T>C
|
|
|
NM_001042492.3(NF1):c.4332+22_4332+25del
|
rs768273651
|
|
NM_001042492.3(NF1):c.4332+8A>G
|
rs773883353
|
|
NM_001042492.3(NF1):c.4333-13T>C
|
rs2151462906
|
|
NM_001042492.3(NF1):c.4333-14G>A
|
|
|
NM_001042492.3(NF1):c.4333-16_4333-15del
|
|
|
NM_001042492.3(NF1):c.4333-17C>G
|
rs1193185429
|
|
NM_001042492.3(NF1):c.4333-20A>G
|
rs2151462882
|
|
NM_001042492.3(NF1):c.4333-5T>G
|
rs1455774859
|
|
NM_001042492.3(NF1):c.4333-6G>T
|
rs2151462926
|
|
NM_001042492.3(NF1):c.4333-8T>C
|
rs2151462917
|
|
NM_001042492.3(NF1):c.4333-9A>G
|
|
|
NM_001042492.3(NF1):c.4333-9A>T
|
rs2067634979
|
|
NM_001042492.3(NF1):c.4338T>G (p.Leu1446=)
|
rs1597745572
|
|
NM_001042492.3(NF1):c.4344T>C (p.Ser1448=)
|
rs1555618644
|
|
NM_001042492.3(NF1):c.4350C>T (p.Ala1450=)
|
rs752055412
|
|
NM_001042492.3(NF1):c.4356T>C (p.His1452=)
|
rs1391955681
|
|
NM_001042492.3(NF1):c.435C>G (p.Leu145=)
|
rs876659818
|
|
NM_001042492.3(NF1):c.435C>T (p.Leu145=)
|
rs876659818
|
|
NM_001042492.3(NF1):c.4365C>T (p.Phe1455=)
|
rs1597745625
|
|
NM_001042492.3(NF1):c.4368A>G (p.Thr1456=)
|
rs876659577
|
|
NM_001042492.3(NF1):c.4371A>G (p.Lys1457=)
|
rs1555618658
|
|
NM_001042492.3(NF1):c.4374A>G (p.Glu1458=)
|
rs1597745662
|
|
NM_001042492.3(NF1):c.4380T>C (p.His1460=)
|
rs2151463079
|
|
NM_001042492.3(NF1):c.438C>T (p.Ser146=)
|
rs2143673225
|
|
NM_001042492.3(NF1):c.4392C>T (p.Phe1464=)
|
rs2067638938
|
|
NM_001042492.3(NF1):c.4401T>C (p.Phe1467=)
|
|
|
NM_001042492.3(NF1):c.4407A>G (p.Lys1469=)
|
|
|
NM_001042492.3(NF1):c.4416T>C (p.Phe1472=)
|
|
|
NM_001042492.3(NF1):c.4419T>C (p.Asp1473=)
|
rs2151463195
|
|
NM_001042492.3(NF1):c.4422A>G (p.Ala1474=)
|
|
|
NM_001042492.3(NF1):c.4425A>G (p.Ala1475=)
|
rs1597745756
|
|
NM_001042492.3(NF1):c.4430+10T>C
|
rs1597745779
|
|
NM_001042492.3(NF1):c.4430+13C>A
|
rs2067640527
|
|
NM_001042492.3(NF1):c.4430+14del
|
rs774927748
|
|
NM_001042492.3(NF1):c.4430+19dup
|
rs2151463275
|
|
NM_001042492.3(NF1):c.4430+20_4430+23del
|
rs2151463277
|
|
NM_001042492.3(NF1):c.4430+7T>C
|
rs2151463242
|
|
NM_001042492.3(NF1):c.4430+8T>C
|
rs2151463245
|
|
NM_001042492.3(NF1):c.4430+8T>G
|
rs2151463245
|
|
NM_001042492.3(NF1):c.4431-10A>G
|
|
|
NM_001042492.3(NF1):c.4431-11C>T
|
rs2151464472
|
|
NM_001042492.3(NF1):c.4431-12G>A
|
|
|
NM_001042492.3(NF1):c.4431-13T>C
|
|
|
NM_001042492.3(NF1):c.4431-13del
|
|
|
NM_001042492.3(NF1):c.4431-13dup
|
|
|
NM_001042492.3(NF1):c.4431-14T>C
|
rs1157589742
|
|
NM_001042492.3(NF1):c.4431-16C>G
|
|
|
NM_001042492.3(NF1):c.4431-16C>T
|
rs2151464452
|
|
NM_001042492.3(NF1):c.4431-19T>A
|
|
|
NM_001042492.3(NF1):c.4431-19T>C
|
|
|
NM_001042492.3(NF1):c.4431-4G>C
|
rs2151464485
|
|
NM_001042492.3(NF1):c.4431-6T>C
|
rs2151464480
|
|
NM_001042492.3(NF1):c.4431-8T>C
|
rs1555618801
|
|
NM_001042492.3(NF1):c.4449A>G (p.Ala1483=)
|
rs1237298231
|
|
NM_001042492.3(NF1):c.4449A>T (p.Ala1483=)
|
rs1237298231
|
|
NM_001042492.3(NF1):c.4452T>C (p.Ser1484=)
|
rs2151464555
|
|
NM_001042492.3(NF1):c.4455T>C (p.Asp1485=)
|
rs186556778
|
|
NM_001042492.3(NF1):c.4467T>C (p.Ser1489=)
|
rs2151464603
|
|
NM_001042492.3(NF1):c.4473A>C (p.Ala1491=)
|
rs2067663618
|
|
NM_001042492.3(NF1):c.4473A>G (p.Ala1491=)
|
rs2067663618
|
|
NM_001042492.3(NF1):c.4476A>C (p.Val1492=)
|
rs1597746972
|
|
NM_001042492.3(NF1):c.4476A>G (p.Val1492=)
|
rs1597746972
|
|
NM_001042492.3(NF1):c.4479T>C (p.Asn1493=)
|
rs1060503888
|
|
NM_001042492.3(NF1):c.4482T>C (p.His1494=)
|
rs2151464642
|
|
NM_001042492.3(NF1):c.4491C>T (p.Ser1497=)
|
rs1555618826
|
|
NM_001042492.3(NF1):c.4497A>T (p.Ile1499=)
|
rs1597747016
|
|
NM_001042492.3(NF1):c.4500T>C (p.Ser1500=)
|
rs775018971
|
|
NM_001042492.3(NF1):c.4509T>C (p.Asn1503=)
|
|
|
NM_001042492.3(NF1):c.450C>T (p.Phe150=)
|
rs202142624
|
|
NM_001042492.3(NF1):c.4512G>T (p.Val1504=)
|
rs1597747038
|
|
NM_001042492.3(NF1):c.4530A>C (p.Leu1510=)
|
rs876660089
|
|
NM_001042492.3(NF1):c.4530A>G (p.Leu1510=)
|
rs876660089
|
|
NM_001042492.3(NF1):c.4533C>G (p.Leu1511=)
|
rs1462064585
|
|
NM_001042492.3(NF1):c.4545G>A (p.Gln1515=)
|
rs1597747124
|
|
NM_001042492.3(NF1):c.4551A>G (p.Lys1517=)
|
rs2151464808
|
|
NM_001042492.3(NF1):c.4554T>C (p.Ile1518=)
|
rs1597747129
|
|
NM_001042492.3(NF1):c.4557G>A (p.Gly1519=)
|
|
|
NM_001042492.3(NF1):c.4560G>A (p.Gln1520=)
|
rs1555618859
|
|
NM_001042492.3(NF1):c.4569C>G (p.Ser1523=)
|
rs1597747154
|
|
NM_001042492.3(NF1):c.4569C>T (p.Ser1523=)
|
|
|
NM_001042492.3(NF1):c.456A>C (p.Ala152=)
|
rs377481833
|
|
NM_001042492.3(NF1):c.4575C>T (p.Asn1525=)
|
rs2151464873
|
|
NM_001042492.3(NF1):c.4577+10C>G
|
|
|
NM_001042492.3(NF1):c.4577+13A>G
|
|
|
NM_001042492.3(NF1):c.4577+13A>T
|
|
|
NM_001042492.3(NF1):c.4577+16C>T
|
|
|
NM_001042492.3(NF1):c.4577+20G>A
|
|
|
NM_001042492.3(NF1):c.4577+7T>C
|
rs2151464892
|
|
NM_001042492.3(NF1):c.4577+9del
|
rs772339679
|
|
NM_001042492.3(NF1):c.4578-13T>G
|
|
|
NM_001042492.3(NF1):c.4578-15G>A
|
rs2151466123
|
|
NM_001042492.3(NF1):c.4578-16A>G
|
rs2067688866
|
|
NM_001042492.3(NF1):c.4578-6A>G
|
|
|
NM_001042492.3(NF1):c.4578-8G>A
|
rs375758486
|
|
NM_001042492.3(NF1):c.4578-8G>C
|
rs375758486
|
|
NM_001042492.3(NF1):c.4578-9T>C
|
|
|
NM_001042492.3(NF1):c.4599A>G (p.Arg1533=)
|
rs1597748710
|
|
NM_001042492.3(NF1):c.4620A>G (p.Ala1540=)
|
rs2151466284
|
|
NM_001042492.3(NF1):c.4623A>C (p.Thr1541=)
|
rs2151466293
|
|
NM_001042492.3(NF1):c.4626T>C (p.Leu1542=)
|
rs1555619012
|
|
NM_001042492.3(NF1):c.4636C>T (p.Leu1546=)
|
rs2151466329
|
|
NM_001042492.3(NF1):c.4638G>T (p.Leu1546=)
|
|
|
NM_001042492.3(NF1):c.4641T>G (p.Gly1547=)
|
rs2151466345
|
|
NM_001042492.3(NF1):c.4647A>G (p.Pro1549=)
|
rs1305841472
|
|
NM_001042492.3(NF1):c.4653C>T (p.His1551=)
|
rs2151466362
|
|
NM_001042492.3(NF1):c.4665A>G (p.Ala1555=)
|
|
|
NM_001042492.3(NF1):c.4671A>T (p.Thr1557=)
|
rs876658990
|
|
NM_001042492.3(NF1):c.4680C>G (p.Ser1560=)
|
|
|
NM_001042492.3(NF1):c.4680C>T (p.Ser1560=)
|
rs2067691696
|
|
NM_001042492.3(NF1):c.4695C>T (p.Thr1565=)
|
rs1555619045
|
|
NM_001042492.3(NF1):c.4698T>C (p.Ser1566=)
|
|
|
NM_001042492.3(NF1):c.4701A>G (p.Ser1567=)
|
rs1597748963
|
|
NM_001042492.3(NF1):c.4704G>A (p.Lys1568=)
|
rs1424931932
|
|
NM_001042492.3(NF1):c.4710G>A (p.Glu1570=)
|
rs1597748978
|
|
NM_001042492.3(NF1):c.4722T>G (p.Thr1574=)
|
rs1555619054
|
|
NM_001042492.3(NF1):c.4724+10A>G
|
rs2151466580
|
|
NM_001042492.3(NF1):c.4724+10A>T
|
rs2151466580
|
|
NM_001042492.3(NF1):c.4724+11A>C
|
rs368649260
|
|
NM_001042492.3(NF1):c.4724+14T>C
|
rs779698484
|
|
NM_001042492.3(NF1):c.4724+17A>C
|
|
|
NM_001042492.3(NF1):c.4724+18A>G
|
|
|
NM_001042492.3(NF1):c.4724+19A>G
|
rs2151466608
|
|
NM_001042492.3(NF1):c.4724+20T>C
|
|
|
NM_001042492.3(NF1):c.4724+20T>G
|
|
|
NM_001042492.3(NF1):c.4724+7T>C
|
rs864622178
|
|
NM_001042492.3(NF1):c.4725-11T>C
|
|
|
NM_001042492.3(NF1):c.4725-13_4725-11dup
|
rs1212495849
|
|
NM_001042492.3(NF1):c.4725-14del
|
rs2151469954
|
|
NM_001042492.3(NF1):c.4725-16G>A
|
rs2151469950
|
|
NM_001042492.3(NF1):c.4725-17T>C
|
|
|
NM_001042492.3(NF1):c.4725-17dup
|
rs2151469940
|
|
NM_001042492.3(NF1):c.4725-18_4725-12del
|
|
|
NM_001042492.3(NF1):c.4725-19T>C
|
|
|
NM_001042492.3(NF1):c.4725-19T>G
|
|
|
NM_001042492.3(NF1):c.4725-20C>A
|
|
|
NM_001042492.3(NF1):c.4725-5T>C
|
rs1060503903
|
|
NM_001042492.3(NF1):c.4725-7C>A
|
rs765493750
|
|
NM_001042492.3(NF1):c.4725-7C>T
|
|
|
NM_001042492.3(NF1):c.4725-7del
|
rs2151469975
|
|
NM_001042492.3(NF1):c.4725-8T>A
|
|
|
NM_001042492.3(NF1):c.4731G>A (p.Gln1577=)
|
rs2067764593
|
|
NM_001042492.3(NF1):c.4752C>T (p.Phe1584=)
|
rs876657545
|
|
NM_001042492.3(NF1):c.4755G>A (p.Lys1585=)
|
|
|
NM_001042492.3(NF1):c.4767G>C (p.Thr1589=)
|
|
|
NM_001042492.3(NF1):c.4770A>G (p.Leu1590=)
|
rs1567865021
|
|
NM_001042492.3(NF1):c.4773T>C (p.Ser1591=)
|
rs2151470160
|
|
NM_001042492.3(NF1):c.4776T>A (p.Ile1592=)
|
rs1346039502
|
|
NM_001042492.3(NF1):c.477C>G (p.Thr159=)
|
|
|
NM_001042492.3(NF1):c.479+10T>A
|
rs2143674378
|
|
NM_001042492.3(NF1):c.479+11A>G
|
rs2143674392
|
|
NM_001042492.3(NF1):c.479+11A>T
|
rs2143674392
|
|
NM_001042492.3(NF1):c.479+16C>T
|
rs1295344295
|
|
NM_001042492.3(NF1):c.479+19A>C
|
rs1315418344
|
|
NM_001042492.3(NF1):c.479+19A>G
|
rs1315418344
|
|
NM_001042492.3(NF1):c.479+19A>T
|
|
|
NM_001042492.3(NF1):c.479+5GT[2]
|
rs2143674247
|
|
NM_001042492.3(NF1):c.479+7del
|
|
|
NM_001042492.3(NF1):c.4791G>A (p.Gly1597=)
|
rs1412795566
|
|
NM_001042492.3(NF1):c.480-10T>C
|
rs2143706711
|
|
NM_001042492.3(NF1):c.480-14T>C
|
|
|
NM_001042492.3(NF1):c.480-15G>T
|
|
|
NM_001042492.3(NF1):c.480-4T>C
|
rs1597643710
|
|
NM_001042492.3(NF1):c.480-5T>C
|
rs1555607069
|
|
NM_001042492.3(NF1):c.480-6T>C
|
rs1597643699
|
|
NM_001042492.3(NF1):c.480-7T>C
|
rs2143706752
|
|
NM_001042492.3(NF1):c.480-8C>A
|
rs1597643692
|
|
NM_001042492.3(NF1):c.480-8C>T
|
rs1597643692
|
|
NM_001042492.3(NF1):c.480-9A>G
|
|
|
NM_001042492.3(NF1):c.4800A>G (p.Lys1600=)
|
rs1555619409
|
|
NM_001042492.3(NF1):c.4803T>G (p.Ala1601=)
|
rs148662566
|
|
NM_001042492.3(NF1):c.4809T>C (p.Asn1603=)
|
rs2067766712
|
|
NM_001042492.3(NF1):c.480G>A (p.Arg160=)
|
rs1555607071
|
|
NM_001042492.3(NF1):c.4824T>C (p.Tyr1608=)
|
rs1567865089
|
|
NM_001042492.3(NF1):c.4827T>C (p.Val1609=)
|
rs2151470344
|
|
NM_001042492.3(NF1):c.4831C>A (p.Arg1611=)
|
rs1060500316
|
|
NM_001042492.3(NF1):c.4834A>C (p.Arg1612=)
|
rs755137259
|
|
NM_001042492.3(NF1):c.4835+12T>G
|
|
|
NM_001042492.3(NF1):c.4835+12_4835+31del
|
rs764411928
|
|
NM_001042492.3(NF1):c.4835+13_4835+14del
|
rs2151470417
|
|
NM_001042492.3(NF1):c.4835+16T>A
|
rs1274517950
|
|
NM_001042492.3(NF1):c.4836-10T>A
|
rs878853899
|
|
NM_001042492.3(NF1):c.4836-12C>T
|
|
|
NM_001042492.3(NF1):c.4836-14_4836-6del
|
rs2151537415
|
|
NM_001042492.3(NF1):c.4836-18T>C
|
|
|
NM_001042492.3(NF1):c.4836-5C>T
|
rs1340222766
|
|
NM_001042492.3(NF1):c.4836-5dup
|
|
|
NM_001042492.3(NF1):c.4836-6C>A
|
|
|
NM_001042492.3(NF1):c.4836-6C>T
|
rs1311255132
|
|
NM_001042492.3(NF1):c.4836-7T>C
|
rs1597829481
|
|
NM_001042492.3(NF1):c.4836-8T>G
|
|
|
NM_001042492.3(NF1):c.4836-9T>C
|
rs2151537438
|
|
NM_001042492.3(NF1):c.4845T>C (p.Thr1615=)
|
rs753606794
|
|
NM_001042492.3(NF1):c.4854C>T (p.Ile1618=)
|
rs1268872486
|
|
NM_001042492.3(NF1):c.4867C>T (p.Leu1623=)
|
rs1555533277
|
|
NM_001042492.3(NF1):c.4869G>A (p.Leu1623=)
|
rs1555533279
|
|
NM_001042492.3(NF1):c.486G>A (p.Gln162=)
|
rs1555607076
|
|
NM_001042492.3(NF1):c.4872A>T (p.Ile1624=)
|
rs2151537601
|
|
NM_001042492.3(NF1):c.4875C>T (p.Tyr1625=)
|
|
|
NM_001042492.3(NF1):c.4885C>T (p.Leu1629=)
|
|
|
NM_001042492.3(NF1):c.4890T>C (p.Thr1630=)
|
rs2151537674
|
|
NM_001042492.3(NF1):c.4899A>C (p.Pro1633=)
|
rs876658422
|
|
NM_001042492.3(NF1):c.4899A>T (p.Pro1633=)
|
rs876658422
|
|
NM_001042492.3(NF1):c.4905T>C (p.Tyr1635=)
|
rs948982039
|
|
NM_001042492.3(NF1):c.4923T>C (p.Ile1641=)
|
|
|
NM_001042492.3(NF1):c.4926A>G (p.Val1642=)
|
rs2151537784
|
|
NM_001042492.3(NF1):c.4932C>T (p.Asp1644=)
|
rs1555533304
|
|
NM_001042492.3(NF1):c.4935T>C (p.Leu1645=)
|
rs2151537807
|
|
NM_001042492.3(NF1):c.4938C>T (p.Thr1646=)
|
rs1555533306
|
|
NM_001042492.3(NF1):c.4941T>C (p.His1647=)
|
|
|
NM_001042492.3(NF1):c.4944C>A (p.Thr1648=)
|
|
|
NM_001042492.3(NF1):c.4947G>A (p.Gly1649=)
|
|
|
NM_001042492.3(NF1):c.4950T>C (p.Pro1650=)
|
rs1396903872
|
|
NM_001042492.3(NF1):c.4950T>G (p.Pro1650=)
|
rs1396903872
|
|
NM_001042492.3(NF1):c.4953C>T (p.Ser1651=)
|
rs941643920
|
|
NM_001042492.3(NF1):c.4956T>C (p.Asn1652=)
|
rs1597829740
|
|
NM_001042492.3(NF1):c.4977C>G (p.Leu1659=)
|
rs863224355
|
|
NM_001042492.3(NF1):c.4977C>T (p.Leu1659=)
|
rs863224355
|
|
NM_001042492.3(NF1):c.4980T>G (p.Ser1660=)
|
rs1597829786
|
|
NM_001042492.3(NF1):c.4983G>A (p.Lys1661=)
|
|
|
NM_001042492.3(NF1):c.4992T>C (p.Val1664=)
|
|
|
NM_001042492.3(NF1):c.5001T>C (p.Pro1667=)
|
rs2151538064
|
|
NM_001042492.3(NF1):c.5010T>C (p.Ala1670=)
|
rs2151538109
|
|
NM_001042492.3(NF1):c.5013C>T (p.Tyr1671=)
|
rs1060500255
|
|
NM_001042492.3(NF1):c.5022C>A (p.Val1674=)
|
rs1597829853
|
|
NM_001042492.3(NF1):c.5022C>T (p.Val1674=)
|
rs1597829853
|
|
NM_001042492.3(NF1):c.5025C>A (p.Ser1675=)
|
rs17878418
|
|
NM_001042492.3(NF1):c.5028A>C (p.Ala1676=)
|
|
|
NM_001042492.3(NF1):c.5031C>T (p.Val1677=)
|
rs2151538196
|
|
NM_001042492.3(NF1):c.5040T>C (p.Tyr1680=)
|
rs1555533351
|
|
NM_001042492.3(NF1):c.5046T>C (p.Cys1682=)
|
rs1597829912
|
|
NM_001042492.3(NF1):c.504A>G (p.Ser168=)
|
rs876658638
|
|
NM_001042492.3(NF1):c.5058C>T (p.Val1686=)
|
rs1315128684
|
|
NM_001042492.3(NF1):c.5061G>A (p.Arg1687=)
|
rs2069332144
|
|
NM_001042492.3(NF1):c.5070C>A (p.Thr1690=)
|
rs2151538356
|
|
NM_001042492.3(NF1):c.5073G>A (p.Lys1691=)
|
rs1597829953
|
|
NM_001042492.3(NF1):c.5079T>C (p.His1693=)
|
|
|
NM_001042492.3(NF1):c.5083C>A (p.Arg1695=)
|
rs1567611500
|
|
NM_001042492.3(NF1):c.5088G>A (p.Leu1696=)
|
rs786203568
|
|
NM_001042492.3(NF1):c.5091G>C (p.Leu1697=)
|
rs876659589
|
|
NM_001042492.3(NF1):c.5100C>G (p.Leu1700=)
|
rs2151538475
|
|
NM_001042492.3(NF1):c.5100C>T (p.Leu1700=)
|
|
|
NM_001042492.3(NF1):c.5106T>C (p.Gly1702=)
|
|
|
NM_001042492.3(NF1):c.5118T>A (p.Leu1706=)
|
rs1597830053
|
|
NM_001042492.3(NF1):c.5121T>A (p.Val1707=)
|
|
|
NM_001042492.3(NF1):c.5133T>C (p.Cys1711=)
|
rs2151538622
|
|
NM_001042492.3(NF1):c.5136T>G (p.Pro1712=)
|
rs2151538643
|
|
NM_001042492.3(NF1):c.5139G>A (p.Gly1713=)
|
rs786202181
|
|
NM_001042492.3(NF1):c.513T>C (p.Asn171=)
|
|
|
NM_001042492.3(NF1):c.5143C>T (p.Leu1715=)
|
rs1597830104
|
|
NM_001042492.3(NF1):c.5148T>C (p.Ala1716=)
|
rs2151538691
|
|
NM_001042492.3(NF1):c.5151G>A (p.Glu1717=)
|
|
|
NM_001042492.3(NF1):c.5154C>T (p.His1718=)
|
rs1597830130
|
|
NM_001042492.3(NF1):c.5163T>C (p.His1721=)
|
rs267604792
|
|
NM_001042492.3(NF1):c.5166A>G (p.Glu1722=)
|
rs1597830174
|
|
NM_001042492.3(NF1):c.5169A>G (p.Gln1723=)
|
rs864622372
|
|
NM_001042492.3(NF1):c.5175A>G (p.Lys1725=)
|
rs1372069749
|
|
NM_001042492.3(NF1):c.5181T>C (p.Pro1727=)
|
rs2151538814
|
|
NM_001042492.3(NF1):c.5181T>G (p.Pro1727=)
|
|
|
NM_001042492.3(NF1):c.5184T>C (p.Ala1728=)
|
rs546932099
|
|
NM_001042492.3(NF1):c.5190C>T (p.Thr1730=)
|
rs143230984
|
|
NM_001042492.3(NF1):c.5191T>C (p.Leu1731=)
|
rs876658602
|
|
NM_001042492.3(NF1):c.519T>C (p.Asp173=)
|
|
|
NM_001042492.3(NF1):c.5208C>T (p.Asp1736=)
|
rs757260226
|
|
NM_001042492.3(NF1):c.5214G>A (p.Lys1738=)
|
|
|
NM_001042492.3(NF1):c.5217A>G (p.Val1739=)
|
rs1228790204
|
|
NM_001042492.3(NF1):c.5226T>C (p.Asn1742=)
|
rs1597830255
|
|
NM_001042492.3(NF1):c.5229T>G (p.Ala1743=)
|
|
|
NM_001042492.3(NF1):c.5232C>G (p.Leu1744=)
|
rs1597830268
|
|
NM_001042492.3(NF1):c.5238A>G (p.Leu1746=)
|
rs779689556
|
|
NM_001042492.3(NF1):c.5244C>T (p.His1748=)
|
rs749010787
|
|
NM_001042492.3(NF1):c.5250C>T (p.Asp1750=)
|
rs1210732116
|
|
NM_001042492.3(NF1):c.5253C>A (p.Thr1751=)
|
rs768884582
|
|
NM_001042492.3(NF1):c.5256A>G (p.Lys1752=)
|
rs1060503899
|
|
NM_001042492.3(NF1):c.5259T>G (p.Val1753=)
|
rs2151539086
|
|
NM_001042492.3(NF1):c.5268+15G>A
|
rs1364346008
|
|
NM_001042492.3(NF1):c.5268+17_5268+18del
|
rs749509735
|
|
NM_001042492.3(NF1):c.5268+18T>G
|
rs2151539199
|
|
NM_001042492.3(NF1):c.5268+8C>G
|
rs2151539157
|
|
NM_001042492.3(NF1):c.5269-11C>T
|
rs2151540713
|
|
NM_001042492.3(NF1):c.5269-13C>G
|
|
|
NM_001042492.3(NF1):c.5269-15A>G
|
rs2151540701
|
|
NM_001042492.3(NF1):c.5269-20C>T
|
rs2151540678
|
|
NM_001042492.3(NF1):c.5269-4C>G
|
rs1555533547
|
|
NM_001042492.3(NF1):c.5269-4C>T
|
rs1555533547
|
|
NM_001042492.3(NF1):c.5269-6T>C
|
rs1597831812
|
|
NM_001042492.3(NF1):c.5274T>C (p.Gly1758=)
|
rs2151540780
|
|
NM_001042492.3(NF1):c.5280T>G (p.Thr1760=)
|
|
|
NM_001042492.3(NF1):c.5292A>G (p.Val1764=)
|
rs1597831870
|
|
NM_001042492.3(NF1):c.5295T>C (p.Thr1765=)
|
rs1286956337
|
|
NM_001042492.3(NF1):c.5298A>G (p.Ser1766=)
|
|
|
NM_001042492.3(NF1):c.5301A>G (p.Ala1767=)
|
|
|
NM_001042492.3(NF1):c.5307A>G (p.Arg1769=)
|
rs2151540899
|
|
NM_001042492.3(NF1):c.5310A>G (p.Thr1770=)
|
|
|
NM_001042492.3(NF1):c.5317C>T (p.Leu1773=)
|
rs1597831909
|
|
NM_001042492.3(NF1):c.5322G>C (p.Gly1774=)
|
|
|
NM_001042492.3(NF1):c.5322G>T (p.Gly1774=)
|
rs201584313
|
|
NM_001042492.3(NF1):c.5325A>G (p.Gln1775=)
|
rs2069376896
|
|
NM_001042492.3(NF1):c.5328A>G (p.Ser1776=)
|
rs759639187
|
|
NM_001042492.3(NF1):c.5331C>G (p.Val1777=)
|
|
|
NM_001042492.3(NF1):c.5331C>T (p.Val1777=)
|
|
|
NM_001042492.3(NF1):c.5337A>G (p.Leu1779=)
|
rs2151541018
|
|
NM_001042492.3(NF1):c.5343C>T (p.Asp1781=)
|
|
|
NM_001042492.3(NF1):c.5352T>C (p.Tyr1784=)
|
|
|
NM_001042492.3(NF1):c.5355T>C (p.Ala1785=)
|
|
|
NM_001042492.3(NF1):c.5367A>G (p.Glu1789=)
|
|
|
NM_001042492.3(NF1):c.5373C>T (p.Ile1791=)
|
rs1597831996
|
|
NM_001042492.3(NF1):c.5376C>T (p.Cys1792=)
|
|
|
NM_001042492.3(NF1):c.5377C>T (p.Leu1793=)
|
rs761676110
|
|
NM_001042492.3(NF1):c.5379A>G (p.Leu1793=)
|
rs2151541156
|
|
NM_001042492.3(NF1):c.537G>A (p.Leu179=)
|
rs1555607095
|
|
NM_001042492.3(NF1):c.5388G>A (p.Glu1796=)
|
rs2069379264
|
|
NM_001042492.3(NF1):c.5394G>A (p.Gln1798=)
|
|
|
NM_001042492.3(NF1):c.5397C>T (p.Phe1799=)
|
rs878853901
|
|
NM_001042492.3(NF1):c.5400C>G (p.Thr1800=)
|
rs1597832051
|
|
NM_001042492.3(NF1):c.5401T>C (p.Leu1801=)
|
|
|
NM_001042492.3(NF1):c.5406C>A (p.Thr1802=)
|
rs895918165
|
|
NM_001042492.3(NF1):c.5406C>G (p.Thr1802=)
|
|
|
NM_001042492.3(NF1):c.5406C>T (p.Thr1802=)
|
|
|
NM_001042492.3(NF1):c.540A>G (p.Leu180=)
|
rs1597643865
|
|
NM_001042492.3(NF1):c.5418G>A (p.Gln1806=)
|
rs2151541293
|
|
NM_001042492.3(NF1):c.5424G>T (p.Thr1808=)
|
|
|
NM_001042492.3(NF1):c.5427G>A (p.Pro1809=)
|
rs1281695642
|
|
NM_001042492.3(NF1):c.5430C>A (p.Leu1810=)
|
rs2151541330
|
|
NM_001042492.3(NF1):c.5430C>T (p.Leu1810=)
|
rs2151541330
|
|
NM_001042492.3(NF1):c.5439G>C (p.Met1813Ile)
|
|
|
NM_001042492.3(NF1):c.543G>A (p.Gln181=)
|
rs2143707678
|
|
NM_001042492.3(NF1):c.5442C>T (p.His1814=)
|
rs991848606
|
|
NM_001042492.3(NF1):c.5445G>A (p.Gln1815=)
|
rs2151541382
|
|
NM_001042492.3(NF1):c.5457C>T (p.Ala1819=)
|
rs2069381058
|
|
NM_001042492.3(NF1):c.5463C>A (p.Val1821=)
|
|
|
NM_001042492.3(NF1):c.5463C>G (p.Val1821=)
|
|
|
NM_001042492.3(NF1):c.5472C>A (p.Ile1824=)
|
rs758784558
|
|
NM_001042492.3(NF1):c.5481C>T (p.Ile1827=)
|
rs1555533607
|
|
NM_001042492.3(NF1):c.5484G>A (p.Arg1828=)
|
rs2151541517
|
|
NM_001042492.3(NF1):c.5484G>T (p.Arg1828=)
|
|
|
NM_001042492.3(NF1):c.5487C>T (p.Thr1829=)
|
|
|
NM_001042492.3(NF1):c.5496A>G (p.Glu1832=)
|
rs1555533613
|
|
NM_001042492.3(NF1):c.5505G>A (p.Gln1835=)
|
rs1555533615
|
|
NM_001042492.3(NF1):c.5514T>C (p.Ser1838=)
|
|
|
NM_001042492.3(NF1):c.5517C>A (p.Ile1839=)
|
rs865839207
|
|
NM_001042492.3(NF1):c.5517C>T (p.Ile1839=)
|
rs865839207
|
|
NM_001042492.3(NF1):c.5526C>T (p.His1842=)
|
rs2151541659
|
|
NM_001042492.3(NF1):c.5529C>T (p.Thr1843=)
|
|
|
NM_001042492.3(NF1):c.5538G>A (p.Arg1846=)
|
rs2151541698
|
|
NM_001042492.3(NF1):c.5541A>C (p.Pro1847=)
|
|
|
NM_001042492.3(NF1):c.5541A>G (p.Pro1847=)
|
rs775779014
|
|
NM_001042492.3(NF1):c.5550C>T (p.Val1850=)
|
rs876658124
|
|
NM_001042492.3(NF1):c.5553T>A (p.Pro1851=)
|
|
|
NM_001042492.3(NF1):c.5556G>A (p.Gly1852=)
|
rs763146785
|
|
NM_001042492.3(NF1):c.5559A>G (p.Thr1853=)
|
|
|
NM_001042492.3(NF1):c.555G>A (p.Val185=)
|
rs2143707858
|
|
NM_001042492.3(NF1):c.5565C>T (p.Leu1855=)
|
|
|
NM_001042492.3(NF1):c.5571C>A (p.Ile1857=)
|
rs771837192
|
|
NM_001042492.3(NF1):c.5584T>C (p.Leu1862=)
|
|
|
NM_001042492.3(NF1):c.5601G>A (p.Pro1867=)
|
rs766322878
|
|
NM_001042492.3(NF1):c.5601G>T (p.Pro1867=)
|
rs766322878
|
|
NM_001042492.3(NF1):c.5609+12A>T
|
|
|
NM_001042492.3(NF1):c.5609+18C>G
|
|
|
NM_001042492.3(NF1):c.5609+19_5609+23del
|
rs1010067969
|
|
NM_001042492.3(NF1):c.5609+20C>T
|
rs2151542052
|
|
NM_001042492.3(NF1):c.5609+8T>A
|
rs753289678
|
|
NM_001042492.3(NF1):c.5609+8T>C
|
rs753289678
|
|
NM_001042492.3(NF1):c.5610-19_5610-15del
|
rs770770675
|
|
NM_001042492.3(NF1):c.5610-5C>G
|
rs2151544379
|
|
NM_001042492.3(NF1):c.5610-5C>T
|
rs2151544379
|
|
NM_001042492.3(NF1):c.5613A>G (p.Ser1871=)
|
|
|
NM_001042492.3(NF1):c.5619C>G (p.Ala1873=)
|
rs786203335
|
|
NM_001042492.3(NF1):c.5622T>C (p.Tyr1874=)
|
|
|
NM_001042492.3(NF1):c.5625T>C (p.Asn1875=)
|
rs1275173622
|
|
NM_001042492.3(NF1):c.5628T>C (p.Leu1876=)
|
|
|
NM_001042492.3(NF1):c.5629C>T (p.Leu1877=)
|
|
|
NM_001042492.3(NF1):c.5631G>A (p.Leu1877=)
|
rs1555533844
|
|
NM_001042492.3(NF1):c.5631G>T (p.Leu1877=)
|
rs1555533844
|
|
NM_001042492.3(NF1):c.5637C>T (p.Ala1879=)
|
rs2151544461
|
|
NM_001042492.3(NF1):c.563C>T (p.Ala188Val)
|
rs1060500309
|
|
NM_001042492.3(NF1):c.5649C>A (p.Thr1883=)
|
|
|
NM_001042492.3(NF1):c.5652T>C (p.Phe1884=)
|
rs1567613616
|
|
NM_001042492.3(NF1):c.5658A>G (p.Leu1886=)
|
rs1555533854
|
|
NM_001042492.3(NF1):c.5670C>T (p.Gly1890=)
|
|
|
NM_001042492.3(NF1):c.5673G>A (p.Gln1891=)
|
rs1555533857
|
|
NM_001042492.3(NF1):c.5677C>T (p.Leu1893=)
|
rs1597834730
|
|
NM_001042492.3(NF1):c.5679A>G (p.Leu1893=)
|
rs2151544593
|
|
NM_001042492.3(NF1):c.567A>G (p.Lys189=)
|
rs1567820796
|
|
NM_001042492.3(NF1):c.5685A>G (p.Thr1895=)
|
rs2151544609
|
|
NM_001042492.3(NF1):c.5688A>G (p.Ser1896=)
|
rs1597834745
|
|
NM_001042492.3(NF1):c.5697T>C (p.Cys1899=)
|
rs1597834760
|
|
NM_001042492.3(NF1):c.5700C>A (p.Ile1900=)
|
rs763851410
|
|
NM_001042492.3(NF1):c.5700C>T (p.Ile1900=)
|
rs763851410
|
|
NM_001042492.3(NF1):c.5712C>T (p.Asn1904=)
|
|
|
NM_001042492.3(NF1):c.5715C>G (p.Thr1905=)
|
|
|
NM_001042492.3(NF1):c.5718C>G (p.Leu1906=)
|
rs2151544713
|
|
NM_001042492.3(NF1):c.5721T>C (p.Phe1907=)
|
rs1555533868
|
|
NM_001042492.3(NF1):c.5724T>C (p.Ile1908=)
|
rs786203312
|
|
NM_001042492.3(NF1):c.5736T>C (p.Ser1912=)
|
|
|
NM_001042492.3(NF1):c.5742A>T (p.Thr1914=)
|
rs1555533874
|
|
NM_001042492.3(NF1):c.5743C>T (p.Leu1915=)
|
rs2151544820
|
|
NM_001042492.3(NF1):c.5748A>G (p.Ala1916=)
|
|
|
NM_001042492.3(NF1):c.574C>A (p.Arg192=)
|
rs397514641
|
|
NM_001042492.3(NF1):c.5751C>G (p.Ala1917=)
|
rs1597834874
|
|
NM_001042492.3(NF1):c.5766C>A (p.Leu1922=)
|
|
|
NM_001042492.3(NF1):c.5784A>G (p.Glu1928=)
|
|
|
NM_001042492.3(NF1):c.5787G>A (p.Glu1929=)
|
rs786202591
|
|
NM_001042492.3(NF1):c.5796T>C (p.Ser1932=)
|
|
|
NM_001042492.3(NF1):c.579C>A (p.Leu193=)
|
|
|
NM_001042492.3(NF1):c.5805C>T (p.Ser1935=)
|
rs876660179
|
|
NM_001042492.3(NF1):c.5812+10G>A
|
rs2069455603
|
|
NM_001042492.3(NF1):c.5812+12T>G
|
rs2151545068
|
|
NM_001042492.3(NF1):c.5812+13A>G
|
|
|
NM_001042492.3(NF1):c.5812+14A>C
|
|
|
NM_001042492.3(NF1):c.5812+18_5812+22del
|
rs2151545082
|
|
NM_001042492.3(NF1):c.5812+19C>A
|
|
|
NM_001042492.3(NF1):c.5812+20T>C
|
|
|
NM_001042492.3(NF1):c.5812+332A>C
|
rs863224491
|
|
NM_001042492.3(NF1):c.5812+7A>C
|
rs1597835005
|
|
NM_001042492.3(NF1):c.5812+7A>G
|
|
|
NM_001042492.3(NF1):c.5812+7A>T
|
|
|
NM_001042492.3(NF1):c.5812+9_5812+10insAC
|
|
|
NM_001042492.3(NF1):c.5813-12A>C
|
rs768741646
|
|
NM_001042492.3(NF1):c.5813-12A>G
|
rs768741646
|
|
NM_001042492.3(NF1):c.5813-13T>A
|
rs749203990
|
|
NM_001042492.3(NF1):c.5813-13T>C
|
|
|
NM_001042492.3(NF1):c.5813-13T>G
|
rs749203990
|
|
NM_001042492.3(NF1):c.5813-15T>C
|
|
|
NM_001042492.3(NF1):c.5813-16G>A
|
|
|
NM_001042492.3(NF1):c.5813-17A>G
|
|
|
NM_001042492.3(NF1):c.5813-18T>A
|
|
|
NM_001042492.3(NF1):c.5813-4C>G
|
|
|
NM_001042492.3(NF1):c.5816T>G (p.Ile1939Ser)
|
rs1304057833
|
|
NM_001042492.3(NF1):c.5821T>C (p.Leu1941=)
|
rs2151550259
|
|
NM_001042492.3(NF1):c.582G>A (p.Leu194=)
|
rs786201846
|
|
NM_001042492.3(NF1):c.582G>T (p.Leu194=)
|
rs786201846
|
|
NM_001042492.3(NF1):c.5832T>A (p.Leu1944=)
|
rs2151550292
|
|
NM_001042492.3(NF1):c.5836T>C (p.Leu1946=)
|
|
|
NM_001042492.3(NF1):c.5844C>T (p.Tyr1948=)
|
rs1373088315
|
|
NM_001042492.3(NF1):c.5857C>T (p.Leu1953=)
|
rs1555534394
|
|
NM_001042492.3(NF1):c.5859G>C (p.Leu1953=)
|
|
|
NM_001042492.3(NF1):c.585G>A (p.Lys195=)
|
rs918734204
|
|
NM_001042492.3(NF1):c.586+10_586+15del
|
rs1555607130
|
|
NM_001042492.3(NF1):c.586+11A>G
|
rs931576798
|
|
NM_001042492.3(NF1):c.586+12T>A
|
|
|
NM_001042492.3(NF1):c.586+12T>C
|
rs374227010
|
|
NM_001042492.3(NF1):c.586+13G>A
|
rs746178655
|
|
NM_001042492.3(NF1):c.586+15A>C
|
rs2065905426
|
|
NM_001042492.3(NF1):c.586+15A>G
|
rs2065905426
|
|
NM_001042492.3(NF1):c.586+18A>G
|
rs2143708552
|
|
NM_001042492.3(NF1):c.586+9A>G
|
rs757780611
|
|
NM_001042492.3(NF1):c.586+9_586+10insTGTAT
|
rs2143708442
|
|
NM_001042492.3(NF1):c.5862A>C (p.Ser1954=)
|
rs2151550379
|
|
NM_001042492.3(NF1):c.5865T>C (p.Asn1955=)
|
rs863224356
|
|
NM_001042492.3(NF1):c.5868A>C (p.Leu1956=)
|
|
|
NM_001042492.3(NF1):c.5868A>G (p.Leu1956=)
|
|
|
NM_001042492.3(NF1):c.587-11_587-10del
|
|
|
NM_001042492.3(NF1):c.587-13G>A
|
rs1040272156
|
|
NM_001042492.3(NF1):c.587-13G>T
|
rs1040272156
|
|
NM_001042492.3(NF1):c.587-14T>C
|
rs940581106
|
|
NM_001042492.3(NF1):c.587-14del
|
|
|
NM_001042492.3(NF1):c.587-15T>C
|
rs2143773718
|
|
NM_001042492.3(NF1):c.587-16A>C
|
|
|
NM_001042492.3(NF1):c.587-5T>C
|
rs2143773838
|
|
NM_001042492.3(NF1):c.587-6T>C
|
rs2143773829
|
|
NM_001042492.3(NF1):c.587-6_587-5del
|
rs759349569
|
|
NM_001042492.3(NF1):c.5880C>T (p.Cys1960=)
|
|
|
NM_001042492.3(NF1):c.5892T>C (p.Asp1964=)
|
rs113768154
|
|
NM_001042492.3(NF1):c.5898C>G (p.Ala1966=)
|
rs2151550470
|
|
NM_001042492.3(NF1):c.5902C>A (p.Arg1968=)
|
rs137854552
|
|
NM_001042492.3(NF1):c.5913T>A (p.Val1971=)
|
|
|
NM_001042492.3(NF1):c.5916T>C (p.Thr1972=)
|
rs2151550524
|
|
NM_001042492.3(NF1):c.5931G>A (p.Lys1977=)
|
rs786201672
|
|
NM_001042492.3(NF1):c.5932C>T (p.Leu1978=)
|
rs2151550569
|
|
NM_001042492.3(NF1):c.5934G>A (p.Leu1978=)
|
rs535803385
|
|
NM_001042492.3(NF1):c.5934G>T (p.Leu1978=)
|
|
|
NM_001042492.3(NF1):c.5940A>G (p.Thr1980=)
|
rs1555534422
|
|
NM_001042492.3(NF1):c.5946C>T (p.Thr1982=)
|
rs1555534423
|
|
NM_001042492.3(NF1):c.594A>G (p.Ala198=)
|
rs138411879
|
|
NM_001042492.3(NF1):c.5952T>C (p.Asn1984=)
|
|
|
NM_001042492.3(NF1):c.5967C>T (p.Tyr1989=)
|
rs1567615902
|
|
NM_001042492.3(NF1):c.5970A>C (p.Pro1990=)
|
rs876658601
|
|
NM_001042492.3(NF1):c.5970A>G (p.Pro1990=)
|
rs876658601
|
|
NM_001042492.3(NF1):c.5976T>C (p.Ile1992=)
|
rs766233634
|
|
NM_001042492.3(NF1):c.5982A>G (p.Ala1994=)
|
rs876659794
|
|
NM_001042492.3(NF1):c.5988A>T (p.Ile1996=)
|
rs2151550732
|
|
NM_001042492.3(NF1):c.5997C>T (p.Ser1999=)
|
rs2069608865
|
|
NM_001042492.3(NF1):c.6003G>A (p.Gly2001=)
|
rs1346833291
|
|
NM_001042492.3(NF1):c.6006+12G>C
|
|
|
NM_001042492.3(NF1):c.6006+13C>T
|
|
|
NM_001042492.3(NF1):c.6006+15C>T
|
rs1460061458
|
|
NM_001042492.3(NF1):c.6006+16A>G
|
|
|
NM_001042492.3(NF1):c.6006+19T>A
|
|
|
NM_001042492.3(NF1):c.6006+20A>T
|
|
|
NM_001042492.3(NF1):c.6006+7A>C
|
|
|
NM_001042492.3(NF1):c.6006+7A>T
|
|
|
NM_001042492.3(NF1):c.6007-10C>T
|
rs2069667554
|
|
NM_001042492.3(NF1):c.6007-12T>C
|
rs2151553107
|
|
NM_001042492.3(NF1):c.6007-12T>G
|
|
|
NM_001042492.3(NF1):c.6007-14C>G
|
rs2151553087
|
|
NM_001042492.3(NF1):c.6007-18T>C
|
rs770210362
|
|
NM_001042492.3(NF1):c.6007-3T>C
|
|
|
NM_001042492.3(NF1):c.6007-7C>T
|
rs2151553126
|
|
NM_001042492.3(NF1):c.6007-8T>C
|
|
|
NM_001042492.3(NF1):c.6007-9_6007-7del
|
rs1274172088
|
|
NM_001042492.3(NF1):c.600A>G (p.Lys200=)
|
rs2143774046
|
|
NM_001042492.3(NF1):c.6016C>T (p.Leu2006=)
|
rs2151553176
|
|
NM_001042492.3(NF1):c.6027T>C (p.Val2009=)
|
|
|
NM_001042492.3(NF1):c.6030A>G (p.Val2010=)
|
|
|
NM_001042492.3(NF1):c.6033A>C (p.Leu2011=)
|
rs147995863
|
|
NM_001042492.3(NF1):c.6033A>T (p.Leu2011=)
|
rs147995863
|
|
NM_001042492.3(NF1):c.6039T>C (p.Ser2013=)
|
|
|
NM_001042492.3(NF1):c.603T>C (p.Phe201=)
|
rs1597658060
|
|
NM_001042492.3(NF1):c.6045C>A (p.Ile2015=)
|
rs1433863184
|
|
NM_001042492.3(NF1):c.6060A>C (p.Thr2020=)
|
rs761889172
|
|
NM_001042492.3(NF1):c.6066C>T (p.Gly2022=)
|
rs2151553337
|
|
NM_001042492.3(NF1):c.6067T>C (p.Leu2023=)
|
rs2151553342
|
|
NM_001042492.3(NF1):c.6075A>G (p.Ser2025=)
|
|
|
NM_001042492.3(NF1):c.6084T>A (p.Ala2028=)
|
|
|
NM_001042492.3(NF1):c.6087G>A (p.Glu2029=)
|
rs58781141
|
|
NM_001042492.3(NF1):c.609C>T (p.Ala203=)
|
rs2143774168
|
|
NM_001042492.3(NF1):c.61-3dup
|
rs2143625033
|
|
NM_001042492.3(NF1):c.61-5T>C
|
|
|
NM_001042492.3(NF1):c.61-7464_61-7440dup
|
|
|
NM_001042492.3(NF1):c.61-8T>C
|
rs2143624960
|
|
NM_001042492.3(NF1):c.6102T>C (p.Thr2034=)
|
rs1597842306
|
|
NM_001042492.3(NF1):c.6105T>A (p.Ala2035=)
|
|
|
NM_001042492.3(NF1):c.6120T>C (p.Ser2040=)
|
rs2069671357
|
|
NM_001042492.3(NF1):c.6126T>C (p.Asn2042=)
|
|
|
NM_001042492.3(NF1):c.612A>G (p.Leu204=)
|
rs1555608658
|
|
NM_001042492.3(NF1):c.6132A>G (p.Lys2044=)
|
|
|
NM_001042492.3(NF1):c.6133T>C (p.Leu2045=)
|
rs2151553576
|
|
NM_001042492.3(NF1):c.6135G>A (p.Leu2045=)
|
|
|
NM_001042492.3(NF1):c.6138T>C (p.Val2046=)
|
rs2151553588
|
|
NM_001042492.3(NF1):c.6147+10T>C
|
|
|
NM_001042492.3(NF1):c.6147+12T>C
|
|
|
NM_001042492.3(NF1):c.6147+13C>A
|
rs2069672707
|
|
NM_001042492.3(NF1):c.6147+14T>G
|
|
|
NM_001042492.3(NF1):c.6147+19C>T
|
|
|
NM_001042492.3(NF1):c.6147+19_6147+20insATAT
|
|
|
NM_001042492.3(NF1):c.6147+5_6147+7del
|
rs2151553635
|
|
NM_001042492.3(NF1):c.6147+7A>G
|
|
|
NM_001042492.3(NF1):c.6147+8C>T
|
rs182709912
|
|
NM_001042492.3(NF1):c.6148-5T>C
|
rs1597842678
|
|
NM_001042492.3(NF1):c.6148-5del
|
rs1597842669
|
|
NM_001042492.3(NF1):c.6148-7T>C
|
rs2151554239
|
|
NM_001042492.3(NF1):c.6148-9T>G
|
rs1597842660
|
|
NM_001042492.3(NF1):c.615G>A (p.Lys205=)
|
rs1135402794
|
|
NM_001042492.3(NF1):c.6165C>T (p.Cys2055=)
|
|
|
NM_001042492.3(NF1):c.6183A>G (p.Thr2061=)
|
rs1225702258
|
|
NM_001042492.3(NF1):c.6183A>T (p.Thr2061=)
|
rs1225702258
|
|
NM_001042492.3(NF1):c.6186C>T (p.Cys2062=)
|
rs1555534669
|
|
NM_001042492.3(NF1):c.618G>A (p.Lys206=)
|
rs1567825917
|
|
NM_001042492.3(NF1):c.6195A>C (p.Pro2065=)
|
rs1060503920
|
|
NM_001042492.3(NF1):c.6201T>C (p.Pro2067=)
|
rs1555534671
|
|
NM_001042492.3(NF1):c.6207A>G (p.Leu2069=)
|
rs1597842793
|
|
NM_001042492.3(NF1):c.6213A>G (p.Gln2071=)
|
rs1060503910
|
|
NM_001042492.3(NF1):c.6228T>C (p.Asp2076=)
|
rs1555534682
|
|
NM_001042492.3(NF1):c.6231T>C (p.Asp2077=)
|
rs1398569642
|
|
NM_001042492.3(NF1):c.6237T>C (p.Ala2079=)
|
rs2151554552
|
|
NM_001042492.3(NF1):c.6243A>G (p.Leu2081=)
|
|
|
NM_001042492.3(NF1):c.624G>A (p.Ala208=)
|
rs370184932
|
|
NM_001042492.3(NF1):c.6252C>T (p.Tyr2084=)
|
|
|
NM_001042492.3(NF1):c.6258G>A (p.Leu2086=)
|
|
|
NM_001042492.3(NF1):c.6262C>T (p.Leu2088=)
|
rs752569823
|
|
NM_001042492.3(NF1):c.6264G>C (p.Leu2088=)
|
rs762751192
|
|
NM_001042492.3(NF1):c.6267C>T (p.Ser2089=)
|
rs1597842870
|
|
NM_001042492.3(NF1):c.6270C>T (p.Phe2090=)
|
|
|
NM_001042492.3(NF1):c.6279C>T (p.Ser2093=)
|
rs1055695069
|
|
NM_001042492.3(NF1):c.627G>A (p.Gln209=)
|
rs1060503919
|
|
NM_001042492.3(NF1):c.6282T>C (p.Leu2094=)
|
|
|
NM_001042492.3(NF1):c.6282T>G (p.Leu2094=)
|
rs2151554690
|
|
NM_001042492.3(NF1):c.6285T>C (p.Asp2095=)
|
|
|
NM_001042492.3(NF1):c.6288G>A (p.Val2096=)
|
rs786203541
|
|
NM_001042492.3(NF1):c.6300T>C (p.Leu2100=)
|
rs876660236
|
|
NM_001042492.3(NF1):c.6303C>G (p.Pro2101=)
|
|
|
NM_001042492.3(NF1):c.6303C>T (p.Pro2101=)
|
rs1161009317
|
|
NM_001042492.3(NF1):c.6306C>T (p.Tyr2102=)
|
|
|
NM_001042492.3(NF1):c.6309C>T (p.Leu2103=)
|
rs2151554779
|
|
NM_001042492.3(NF1):c.630A>G (p.Leu210=)
|
|
|
NM_001042492.3(NF1):c.6324T>C (p.Thr2108=)
|
rs1555534728
|
|
NM_001042492.3(NF1):c.6333A>G (p.Val2111=)
|
rs876660592
|
|
NM_001042492.3(NF1):c.6333A>T (p.Val2111=)
|
rs876660592
|
|
NM_001042492.3(NF1):c.6336C>T (p.Ala2112=)
|
rs2151554865
|
|
NM_001042492.3(NF1):c.6339A>G (p.Thr2113=)
|
|
|
NM_001042492.3(NF1):c.633A>G (p.Ala211=)
|
rs876660800
|
|
NM_001042492.3(NF1):c.6348C>G (p.Leu2116=)
|
rs748725395
|
|
NM_001042492.3(NF1):c.6348C>T (p.Leu2116=)
|
rs748725395
|
|
NM_001042492.3(NF1):c.6351C>G (p.Ser2117=)
|
|
|
NM_001042492.3(NF1):c.6354T>G (p.Leu2118=)
|
rs1487199130
|
|
NM_001042492.3(NF1):c.6363C>G (p.Ser2121=)
|
rs1555534749
|
|
NM_001042492.3(NF1):c.6366A>C (p.Thr2122=)
|
|
|
NM_001042492.3(NF1):c.6366A>G (p.Thr2122=)
|
rs876657547
|
|
NM_001042492.3(NF1):c.636T>C (p.Val212=)
|
rs1361259662
|
|
NM_001042492.3(NF1):c.6378C>G (p.Val2126=)
|
|
|
NM_001042492.3(NF1):c.6387C>T (p.Ile2129=)
|
rs786203078
|
|
NM_001042492.3(NF1):c.6396T>G (p.Ser2132=)
|
rs1555534764
|
|
NM_001042492.3(NF1):c.6399G>A (p.Leu2133=)
|
rs1448544243
|
|
NM_001042492.3(NF1):c.6427+8C>A
|
rs864622598
|
|
NM_001042492.3(NF1):c.6427+8C>G
|
|
|
NM_001042492.3(NF1):c.6427+8C>T
|
rs864622598
|
|
NM_001042492.3(NF1):c.6428-10T>G
|
rs2151555897
|
|
NM_001042492.3(NF1):c.6428-13del
|
|
|
NM_001042492.3(NF1):c.6428-16del
|
rs775290769
|
|
NM_001042492.3(NF1):c.6428-17C>G
|
rs2069702311
|
|
NM_001042492.3(NF1):c.6428-17C>T
|
|
|
NM_001042492.3(NF1):c.6428-20G>A
|
rs897880244
|
|
NM_001042492.3(NF1):c.6428-4A>G
|
rs1597843630
|
|
NM_001042492.3(NF1):c.6428-4A>T
|
rs1597843630
|
|
NM_001042492.3(NF1):c.6428-5T>C
|
rs1597843627
|
|
NM_001042492.3(NF1):c.6428-6T>C
|
rs772738883
|
|
NM_001042492.3(NF1):c.6428-7C>G
|
rs1597843613
|
|
NM_001042492.3(NF1):c.6428-7C>T
|
rs1597843613
|
|
NM_001042492.3(NF1):c.6428-9C>T
|
rs1418018519
|
|
NM_001042492.3(NF1):c.642T>C (p.Asn214=)
|
rs2143774575
|
|
NM_001042492.3(NF1):c.6432G>A (p.Glu2144=)
|
rs2151555941
|
|
NM_001042492.3(NF1):c.6441A>G (p.Gln2147=)
|
|
|
NM_001042492.3(NF1):c.6444T>G (p.Val2148=)
|
|
|
NM_001042492.3(NF1):c.6448A>C (p.Arg2150=)
|
|
|
NM_001042492.3(NF1):c.6453C>A (p.Leu2151=)
|
rs1597843719
|
|
NM_001042492.3(NF1):c.6453C>T (p.Leu2151=)
|
rs1597843719
|
|
NM_001042492.3(NF1):c.6465G>A (p.Glu2155=)
|
rs1394945517
|
|
NM_001042492.3(NF1):c.646C>T (p.Leu216=)
|
rs1597658201
|
|
NM_001042492.3(NF1):c.6471A>G (p.Ser2157=)
|
rs2151556082
|
|
NM_001042492.3(NF1):c.6471A>T (p.Ser2157=)
|
rs2151556082
|
|
NM_001042492.3(NF1):c.6472T>C (p.Leu2158=)
|
rs1597843758
|
|
NM_001042492.3(NF1):c.6477C>T (p.Pro2159=)
|
|
|
NM_001042492.3(NF1):c.648G>A (p.Leu216=)
|
rs2143774676
|
|
NM_001042492.3(NF1):c.6510C>T (p.Val2170=)
|
rs2151556214
|
|
NM_001042492.3(NF1):c.6513G>A (p.Lys2171=)
|
rs1597843784
|
|
NM_001042492.3(NF1):c.6519T>C (p.Ala2173=)
|
|
|
NM_001042492.3(NF1):c.651A>G (p.Glu217=)
|
|
|
NM_001042492.3(NF1):c.6522T>A (p.Ala2174=)
|
|
|
NM_001042492.3(NF1):c.6525C>T (p.Val2175=)
|
rs761686171
|
|
NM_001042492.3(NF1):c.6531C>T (p.Ala2177=)
|
rs2151556280
|
|
NM_001042492.3(NF1):c.654+10A>T
|
rs1597658231
|
|
NM_001042492.3(NF1):c.654+11A>G
|
rs2143774889
|
|
NM_001042492.3(NF1):c.654+11A>T
|
rs2143774889
|
|
NM_001042492.3(NF1):c.654+12C>A
|
rs2143774913
|
|
NM_001042492.3(NF1):c.654+13C>A
|
rs2143774947
|
|
NM_001042492.3(NF1):c.654+14T>A
|
rs2066133060
|
|
NM_001042492.3(NF1):c.654+14T>C
|
rs2066133060
|
|
NM_001042492.3(NF1):c.654+15C>T
|
rs780400882
|
|
NM_001042492.3(NF1):c.654+18del
|
|
|
NM_001042492.3(NF1):c.654+19G>A
|
|
|
NM_001042492.3(NF1):c.654+20G>A
|
rs2066133331
|
|
NM_001042492.3(NF1):c.654+20G>T
|
|
|
NM_001042492.3(NF1):c.654+9C>A
|
rs2143774861
|
|
NM_001042492.3(NF1):c.6549G>T (p.Arg2183=)
|
rs1028183407
|
|
NM_001042492.3(NF1):c.655-5T>C
|
rs377264487
|
|
NM_001042492.3(NF1):c.655-6_655-3del
|
rs2066137549
|
|
NM_001042492.3(NF1):c.655-8A>C
|
rs758089068
|
|
NM_001042492.3(NF1):c.655-8A>G
|
rs758089068
|
|
NM_001042492.3(NF1):c.655-9T>C
|
rs2143777099
|
|
NM_001042492.3(NF1):c.6555G>A (p.Arg2185=)
|
rs786203189
|
|
NM_001042492.3(NF1):c.6558A>G (p.Ser2186=)
|
rs753509749
|
|
NM_001042492.3(NF1):c.6564T>C (p.Ser2188=)
|
|
|
NM_001042492.3(NF1):c.6567T>C (p.Pro2189=)
|
rs1597843915
|
|
NM_001042492.3(NF1):c.6570C>A (p.Gly2190=)
|
|
|
NM_001042492.3(NF1):c.6570C>T (p.Gly2190=)
|
rs2151556423
|
|
NM_001042492.3(NF1):c.6571T>C (p.Ser2191Pro)
|
rs754630324
|
|
NM_001042492.3(NF1):c.6573C>T (p.Ser2191=)
|
rs753136800
|
|
NM_001042492.3(NF1):c.6576T>C (p.Tyr2192=)
|
rs758917402
|
|
NM_001042492.3(NF1):c.657A>G (p.Ala219=)
|
rs2143777330
|
|
NM_001042492.3(NF1):c.6582A>G (p.Arg2194=)
|
|
|
NM_001042492.3(NF1):c.6591T>C (p.Phe2197=)
|
rs1298866989
|
|
NM_001042492.3(NF1):c.6594T>C (p.Ala2198=)
|
rs2151556493
|
|
NM_001042492.3(NF1):c.6606G>A (p.Leu2202=)
|
rs2151556537
|
|
NM_001042492.3(NF1):c.6609A>G (p.Glu2203=)
|
rs2151556543
|
|
NM_001042492.3(NF1):c.6612A>G (p.Thr2204=)
|
rs1555534883
|
|
NM_001042492.3(NF1):c.6625T>C (p.Leu2209=)
|
rs2151556602
|
|
NM_001042492.3(NF1):c.6627G>A (p.Leu2209=)
|
rs2151556608
|
|
NM_001042492.3(NF1):c.6630G>A (p.Leu2210=)
|
rs886052801
|
|
NM_001042492.3(NF1):c.6642+10C>T
|
|
|
NM_001042492.3(NF1):c.6642+11C>A
|
rs375446476
|
|
NM_001042492.3(NF1):c.6642+11C>G
|
rs375446476
|
|
NM_001042492.3(NF1):c.6642+11C>T
|
rs375446476
|
|
NM_001042492.3(NF1):c.6642+13A>G
|
|
|
NM_001042492.3(NF1):c.6642+16T>A
|
rs773123329
|
|
NM_001042492.3(NF1):c.6642+16T>C
|
|
|
NM_001042492.3(NF1):c.6642+22_6642+24del
|
rs2151556747
|
|
NM_001042492.3(NF1):c.6642+7A>G
|
rs1597844162
|
|
NM_001042492.3(NF1):c.6642+9G>A
|
|
|
NM_001042492.3(NF1):c.6643-10C>T
|
rs1597844527
|
|
NM_001042492.3(NF1):c.6643-12C>A
|
|
|
NM_001042492.3(NF1):c.6643-12C>T
|
rs2151557324
|
|
NM_001042492.3(NF1):c.6643-19A>C
|
rs544476647
|
|
NM_001042492.3(NF1):c.6643-20C>G
|
|
|
NM_001042492.3(NF1):c.6643-4T>A
|
rs1555534908
|
|
NM_001042492.3(NF1):c.6643-4T>C
|
rs1555534908
|
|
NM_001042492.3(NF1):c.6643-4T>G
|
|
|
NM_001042492.3(NF1):c.6643-6T>G
|
|
|
NM_001042492.3(NF1):c.6643-8T>C
|
rs752079977
|
|
NM_001042492.3(NF1):c.6645A>G (p.Ala2215=)
|
|
|
NM_001042492.3(NF1):c.6657T>C (p.Asp2219=)
|
|
|
NM_001042492.3(NF1):c.6663A>G (p.Pro2221=)
|
rs876660136
|
|
NM_001042492.3(NF1):c.6664_6665inv (p.Thr2222Val)
|
|
|
NM_001042492.3(NF1):c.6666G>C (p.Thr2222=)
|
rs780247942
|
|
NM_001042492.3(NF1):c.6666G>T (p.Thr2222=)
|
|
|
NM_001042492.3(NF1):c.6676C>T (p.Leu2226=)
|
rs876658129
|
|
NM_001042492.3(NF1):c.6681C>T (p.Asp2227=)
|
rs876659371
|
|
NM_001042492.3(NF1):c.6684G>A (p.Gln2228=)
|
rs1597844644
|
|
NM_001042492.3(NF1):c.6690A>G (p.Thr2230=)
|
rs1597844663
|
|
NM_001042492.3(NF1):c.6693A>G (p.Glu2231=)
|
rs777588905
|
|
NM_001042492.3(NF1):c.66A>G (p.Pro22=)
|
|
|
NM_001042492.3(NF1):c.6704+10A>G
|
rs2151557601
|
|
NM_001042492.3(NF1):c.6704+12A>G
|
|
|
NM_001042492.3(NF1):c.6704+14T>G
|
rs200051331
|
|
NM_001042492.3(NF1):c.6704+16_6704+19del
|
|
|
NM_001042492.3(NF1):c.6704+17dup
|
rs2151557620
|
|
NM_001042492.3(NF1):c.6704+18T>C
|
|
|
NM_001042492.3(NF1):c.6704+20T>C
|
|
|
NM_001042492.3(NF1):c.6704+20T>G
|
|
|
NM_001042492.3(NF1):c.6704+4T>C
|
rs1555534930
|
|
NM_001042492.3(NF1):c.6704+7C>T
|
rs2151557592
|
|
NM_001042492.3(NF1):c.6704+8C>A
|
rs770797478
|
|
NM_001042492.3(NF1):c.6705-11T>G
|
rs2069723793
|
|
NM_001042492.3(NF1):c.6705-13C>T
|
|
|
NM_001042492.3(NF1):c.6705-15A>G
|
rs2151557980
|
|
NM_001042492.3(NF1):c.6705-18T>C
|
|
|
NM_001042492.3(NF1):c.6705-19G>A
|
|
|
NM_001042492.3(NF1):c.6705-4G>T
|
rs1597844961
|
|
NM_001042492.3(NF1):c.6705-6T>C
|
rs1597844950
|
|
NM_001042492.3(NF1):c.6705-7A>T
|
rs2151558006
|
|
NM_001042492.3(NF1):c.6705-8A>G
|
rs2151558002
|
|
NM_001042492.3(NF1):c.6708T>C (p.Phe2236=)
|
rs2151558039
|
|
NM_001042492.3(NF1):c.6711A>C (p.Ala2237=)
|
|
|
NM_001042492.3(NF1):c.6714C>T (p.Phe2238=)
|
|
|
NM_001042492.3(NF1):c.6717A>G (p.Gln2239=)
|
rs2069724967
|
|
NM_001042492.3(NF1):c.6720T>C (p.Tyr2240=)
|
rs2151558071
|
|
NM_001042492.3(NF1):c.6726A>C (p.Pro2242=)
|
rs2151558085
|
|
NM_001042492.3(NF1):c.6729C>T (p.Ser2243=)
|
rs1337738132
|
|
NM_001042492.3(NF1):c.672A>G (p.Val224=)
|
rs2143777618
|
|
NM_001042492.3(NF1):c.6730C>T (p.Leu2244=)
|
rs1210367831
|
|
NM_001042492.3(NF1):c.6738A>G (p.Pro2246=)
|
rs2151558128
|
|
NM_001042492.3(NF1):c.6739A>C (p.Arg2247=)
|
rs1597845024
|
|
NM_001042492.3(NF1):c.6744T>A (p.Ala2248=)
|
rs878853910
|
|
NM_001042492.3(NF1):c.6744T>G (p.Ala2248=)
|
rs878853910
|
|
NM_001042492.3(NF1):c.6750T>A (p.Val2250=)
|
rs762075320
|
|
NM_001042492.3(NF1):c.6753C>A (p.Val2251=)
|
rs1597845047
|
|
NM_001042492.3(NF1):c.6756T>C (p.Phe2252=)
|
rs1597845056
|
|
NM_001042492.3(NF1):c.6777G>A (p.Val2259=)
|
rs1281405147
|
|
NM_001042492.3(NF1):c.6786G>A (p.Gly2262=)
|
rs878853911
|
|
NM_001042492.3(NF1):c.678T>C (p.Asn226=)
|
rs2143777669
|
|
NM_001042492.3(NF1):c.6795G>A (p.Lys2265=)
|
rs1597845162
|
|
NM_001042492.3(NF1):c.6807T>G (p.Arg2269=)
|
|
|
NM_001042492.3(NF1):c.6816C>T (p.Ser2272=)
|
rs864622360
|
|
NM_001042492.3(NF1):c.6819+12G>A
|
rs2151558468
|
|
NM_001042492.3(NF1):c.6819+12G>T
|
rs2151558468
|
|
NM_001042492.3(NF1):c.6819+12_6819+15del
|
|
|
NM_001042492.3(NF1):c.6819+15C>G
|
rs2151558481
|
|
NM_001042492.3(NF1):c.6819+17C>T
|
rs1567618002
|
|
NM_001042492.3(NF1):c.6819+19C>T
|
rs2151558492
|
|
NM_001042492.3(NF1):c.6819+7G>T
|
|
|
NM_001042492.3(NF1):c.6819+9T>G
|
rs2151558449
|
|
NM_001042492.3(NF1):c.6820-10T>C
|
|
|
NM_001042492.3(NF1):c.6820-12T>G
|
rs2151559052
|
|
NM_001042492.3(NF1):c.6820-13G>A
|
|
|
NM_001042492.3(NF1):c.6820-13G>C
|
rs2151559051
|
|
NM_001042492.3(NF1):c.6820-15C>A
|
rs2069741543
|
|
NM_001042492.3(NF1):c.6820-15C>T
|
rs2069741543
|
|
NM_001042492.3(NF1):c.6820-16del
|
rs759831245
|
|
NM_001042492.3(NF1):c.6820-17T>C
|
|
|
NM_001042492.3(NF1):c.6820-18A>C
|
|
|
NM_001042492.3(NF1):c.6820-5A>G
|
rs1555535022
|
|
NM_001042492.3(NF1):c.6820-6T>A
|
rs1597845896
|
|
NM_001042492.3(NF1):c.6820-6T>C
|
rs1597845896
|
|
NM_001042492.3(NF1):c.6820-7C>G
|
|
|
NM_001042492.3(NF1):c.6820-7C>T
|
rs1555535020
|
|
NM_001042492.3(NF1):c.6820-8C>T
|
rs1060503909
|
|
NM_001042492.3(NF1):c.6822A>C (p.Ala2274=)
|
rs1555535025
|
|
NM_001042492.3(NF1):c.6822A>G (p.Ala2274=)
|
|
|
NM_001042492.3(NF1):c.6828G>A (p.Glu2276=)
|
rs2069742604
|
|
NM_001042492.3(NF1):c.6837A>G (p.Leu2279=)
|
rs144287929
|
|
NM_001042492.3(NF1):c.6849C>T (p.Asp2283=)
|
rs1597845951
|
|
NM_001042492.3(NF1):c.684A>G (p.Pro228=)
|
rs1555608746
|
|
NM_001042492.3(NF1):c.684A>T (p.Pro228=)
|
rs1555608746
|
|
NM_001042492.3(NF1):c.6861T>C (p.Ser2287=)
|
|
|
NM_001042492.3(NF1):c.6867T>C (p.Val2289=)
|
rs2151559243
|
|
NM_001042492.3(NF1):c.6870G>A (p.Leu2290=)
|
rs773658814
|
|
NM_001042492.3(NF1):c.6870G>C (p.Leu2290=)
|
rs773658814
|
|
NM_001042492.3(NF1):c.6870G>T (p.Leu2290=)
|
rs773658814
|
|
NM_001042492.3(NF1):c.687T>C (p.Asp229=)
|
rs2143777813
|
|
NM_001042492.3(NF1):c.6882A>G (p.Thr2294=)
|
rs766889312
|
|
NM_001042492.3(NF1):c.6892C>T (p.Leu2298=)
|
rs1555535049
|
|
NM_001042492.3(NF1):c.6897C>G (p.Thr2299=)
|
|
|
NM_001042492.3(NF1):c.6903A>G (p.Leu2301=)
|
|
|
NM_001042492.3(NF1):c.6906G>A (p.Gln2302=)
|
rs1333226474
|
|
NM_001042492.3(NF1):c.6912T>A (p.Leu2304=)
|
rs1597846097
|
|
NM_001042492.3(NF1):c.6912T>G (p.Leu2304=)
|
rs1597846097
|
|
NM_001042492.3(NF1):c.6915T>C (p.Leu2305=)
|
|
|
NM_001042492.3(NF1):c.6915T>G (p.Leu2305=)
|
|
|
NM_001042492.3(NF1):c.6921+10G>A
|
rs767166725
|
|
NM_001042492.3(NF1):c.6921+10_6921+11del
|
rs2151559456
|
|
NM_001042492.3(NF1):c.6921+11T>A
|
|
|
NM_001042492.3(NF1):c.6921+11T>C
|
rs2151559465
|
|
NM_001042492.3(NF1):c.6921+12A>G
|
|
|
NM_001042492.3(NF1):c.6921+12A>T
|
|
|
NM_001042492.3(NF1):c.6921+13T>C
|
|
|
NM_001042492.3(NF1):c.6921+14A>G
|
|
|
NM_001042492.3(NF1):c.6921+15G>T
|
|
|
NM_001042492.3(NF1):c.6921+18A>G
|
|
|
NM_001042492.3(NF1):c.6921+20dup
|
|
|
NM_001042492.3(NF1):c.6921+7A>C
|
|
|
NM_001042492.3(NF1):c.6921+9T>C
|
rs1555535059
|
|
NM_001042492.3(NF1):c.6921+9del
|
|
|
NM_001042492.3(NF1):c.6922-11T>C
|
|
|
NM_001042492.3(NF1):c.6922-11T>G
|
rs2151561382
|
|
NM_001042492.3(NF1):c.6922-13T>A
|
rs199901687
|
|
NM_001042492.3(NF1):c.6922-16A>T
|
|
|
NM_001042492.3(NF1):c.6922-17C>T
|
|
|
NM_001042492.3(NF1):c.6922-18A>T
|
rs2151561347
|
|
NM_001042492.3(NF1):c.6922-4C>T
|
rs2069789284
|
|
NM_001042492.3(NF1):c.6922-5G>A
|
rs1555535158
|
|
NM_001042492.3(NF1):c.6922-5G>C
|
|
|
NM_001042492.3(NF1):c.6922-5G>T
|
|
|
NM_001042492.3(NF1):c.6922-9C>T
|
rs760085677
|
|
NM_001042492.3(NF1):c.6930T>A (p.Pro2310=)
|
|
|
NM_001042492.3(NF1):c.6933G>A (p.Leu2311=)
|
rs1468907773
|
|
NM_001042492.3(NF1):c.6942C>T (p.Ala2314=)
|
rs1597847931
|
|
NM_001042492.3(NF1):c.6945C>T (p.Leu2315=)
|
rs751893971
|
|
NM_001042492.3(NF1):c.6957T>C (p.Ala2319=)
|
|
|
NM_001042492.3(NF1):c.6963T>C (p.Ala2321=)
|
|
|
NM_001042492.3(NF1):c.6966G>A (p.Val2322=)
|
rs753793900
|
|
NM_001042492.3(NF1):c.6969G>A (p.Leu2323=)
|
rs2151561643
|
|
NM_001042492.3(NF1):c.696A>C (p.Thr232=)
|
|
|
NM_001042492.3(NF1):c.6972G>A (p.Gln2324=)
|
rs1555535169
|
|
NM_001042492.3(NF1):c.6975T>C (p.Leu2325=)
|
rs876659851
|
|
NM_001042492.3(NF1):c.6978T>C (p.Asp2326=)
|
rs1135402896
|
|
NM_001042492.3(NF1):c.6984C>G (p.Val2328=)
|
|
|
NM_001042492.3(NF1):c.6987C>T (p.Asn2329=)
|
rs2151561728
|
|
NM_001042492.3(NF1):c.6993T>C (p.Tyr2331=)
|
rs2069792220
|
|
NM_001042492.3(NF1):c.699A>G (p.Lys233=)
|
|
|
NM_001042492.3(NF1):c.7002T>C (p.Gly2334=)
|
|
|
NM_001042492.3(NF1):c.7008A>G (p.Ala2336=)
|
rs201153017
|
|
NM_001042492.3(NF1):c.700C>T (p.Leu234=)
|
|
|
NM_001042492.3(NF1):c.7024C>T (p.Leu2342=)
|
rs2151561869
|
|
NM_001042492.3(NF1):c.7026G>T (p.Leu2342=)
|
rs371581213
|
|
NM_001042492.3(NF1):c.7029T>C (p.His2343=)
|
rs1555535187
|
|
NM_001042492.3(NF1):c.7035A>G (p.Leu2345=)
|
|
|
NM_001042492.3(NF1):c.7038T>C (p.Asp2346=)
|
rs1597848208
|
|
NM_001042492.3(NF1):c.7041T>C (p.Ser2347=)
|
rs746322836
|
|
NM_001042492.3(NF1):c.7050A>T (p.Ile2350=)
|
rs2151561986
|
|
NM_001042492.3(NF1):c.7053C>T (p.Phe2351=)
|
rs2069794864
|
|
NM_001042492.3(NF1):c.7056T>C (p.Asn2352=)
|
|
|
NM_001042492.3(NF1):c.7059C>T (p.Asp2353=)
|
rs1555535200
|
|
NM_001042492.3(NF1):c.705C>T (p.Tyr235=)
|
rs769048538
|
|
NM_001042492.3(NF1):c.7062+11T>G
|
|
|
NM_001042492.3(NF1):c.7062+12T>A
|
rs2151562096
|
|
NM_001042492.3(NF1):c.7062+12_7062+13del
|
rs753202735
|
|
NM_001042492.3(NF1):c.7062+13T>C
|
rs2069795786
|
|
NM_001042492.3(NF1):c.7062+15C>T
|
|
|
NM_001042492.3(NF1):c.7062+16C>T
|
rs2151562117
|
|
NM_001042492.3(NF1):c.7062+8A>T
|
|
|
NM_001042492.3(NF1):c.7063-11A>G
|
|
|
NM_001042492.3(NF1):c.7063-13T>A
|
|
|
NM_001042492.3(NF1):c.7063-14A>G
|
rs2151564884
|
|
NM_001042492.3(NF1):c.7063-16T>C
|
|
|
NM_001042492.3(NF1):c.7063-17A>C
|
rs2069864123
|
|
NM_001042492.3(NF1):c.7063-17A>G
|
rs2069864123
|
|
NM_001042492.3(NF1):c.7063-18C>G
|
rs191381093
|
|
NM_001042492.3(NF1):c.7063-4A>C
|
|
|
NM_001042492.3(NF1):c.7063-4A>T
|
rs749805168
|
|
NM_001042492.3(NF1):c.7063-4_7063-2del
|
rs1597851237
|
|
NM_001042492.3(NF1):c.7063-6_7063-3del
|
rs2151564907
|
|
NM_001042492.3(NF1):c.7063-6_7063-5dup
|
|
|
NM_001042492.3(NF1):c.7063-7_7063-6delinsC
|
rs864622725
|
|
NM_001042492.3(NF1):c.7063-8_7063-5dup
|
|
|
NM_001042492.3(NF1):c.7063-9C>T
|
rs1555535398
|
|
NM_001042492.3(NF1):c.7077A>T (p.Val2359=)
|
rs1483485648
|
|
NM_001042492.3(NF1):c.708G>A (p.Gln236=)
|
|
|
NM_001042492.3(NF1):c.7090C>A (p.Arg2364=)
|
rs1567620403
|
|
NM_001042492.3(NF1):c.7095T>C (p.Asn2365=)
|
rs981246691
|
|
NM_001042492.3(NF1):c.7099C>T (p.Leu2367=)
|
rs1259241665
|
|
NM_001042492.3(NF1):c.7101G>A (p.Leu2367=)
|
rs1567620421
|
|
NM_001042492.3(NF1):c.7104G>A (p.Glu2368=)
|
|
|
NM_001042492.3(NF1):c.7116G>A (p.Lys2372=)
|
rs2151565083
|
|
NM_001042492.3(NF1):c.711C>A (p.Ile237=)
|
rs2066139444
|
|
NM_001042492.3(NF1):c.7125T>C (p.Asp2375=)
|
rs1597851343
|
|
NM_001042492.3(NF1):c.7128T>C (p.His2376=)
|
rs1597851346
|
|
NM_001042492.3(NF1):c.7140C>G (p.Leu2380=)
|
rs1318891665
|
|
NM_001042492.3(NF1):c.714A>T (p.Pro238=)
|
|
|
NM_001042492.3(NF1):c.7152T>A (p.Ser2384=)
|
rs2151565205
|
|
NM_001042492.3(NF1):c.7155C>T (p.Asn2385=)
|
rs2151565220
|
|
NM_001042492.3(NF1):c.7158T>C (p.Phe2386=)
|
rs876660271
|
|
NM_001042492.3(NF1):c.7167A>C (p.Ala2389=)
|
rs1555535447
|
|
NM_001042492.3(NF1):c.7167A>G (p.Ala2389=)
|
|
|
NM_001042492.3(NF1):c.7179C>T (p.His2393=)
|
rs2069870191
|
|
NM_001042492.3(NF1):c.717G>A (p.Gln239=)
|
rs1597658684
|
|
NM_001042492.3(NF1):c.7189+10C>A
|
|
|
NM_001042492.3(NF1):c.7189+10C>G
|
rs2151565359
|
|
NM_001042492.3(NF1):c.7189+11C>T
|
|
|
NM_001042492.3(NF1):c.7189+15T>C
|
|
|
NM_001042492.3(NF1):c.7189+16T>G
|
|
|
NM_001042492.3(NF1):c.7189+20A>C
|
|
|
NM_001042492.3(NF1):c.7189+7A>C
|
rs767151173
|
|
NM_001042492.3(NF1):c.7189+8del
|
rs753952604
|
|
NM_001042492.3(NF1):c.7189+8dup
|
rs753952604
|
|
NM_001042492.3(NF1):c.7189+9G>A
|
rs1597851538
|
|
NM_001042492.3(NF1):c.7190-10T>C
|
rs2070072539
|
|
NM_001042492.3(NF1):c.7190-10T>G
|
rs2070072539
|
|
NM_001042492.3(NF1):c.7190-33TTGT[7]
|
rs149197458
|
|
NM_001042492.3(NF1):c.7190-5T>C
|
rs748245325
|
|
NM_001042492.3(NF1):c.7190-6T>C
|
rs1597858313
|
|
NM_001042492.3(NF1):c.7190-8T>G
|
rs2070072794
|
|
NM_001042492.3(NF1):c.7191G>C (p.Gly2397=)
|
rs773474652
|
|
NM_001042492.3(NF1):c.7191G>T (p.Gly2397=)
|
rs773474652
|
|
NM_001042492.3(NF1):c.7197G>A (p.Arg2399=)
|
rs1555536017
|
|
NM_001042492.3(NF1):c.7209T>C (p.Pro2403=)
|
rs1597858377
|
|
NM_001042492.3(NF1):c.720T>C (p.Thr240=)
|
rs1555608761
|
|
NM_001042492.3(NF1):c.720T>G (p.Thr240=)
|
rs1555608761
|
|
NM_001042492.3(NF1):c.7215T>C (p.Ile2405=)
|
rs2151572549
|
|
NM_001042492.3(NF1):c.7218T>C (p.Val2406=)
|
|
|
NM_001042492.3(NF1):c.7230C>T (p.Val2410=)
|
rs1555536022
|
|
NM_001042492.3(NF1):c.7233A>G (p.Arg2411=)
|
rs1597858430
|
|
NM_001042492.3(NF1):c.7237T>C (p.Leu2413=)
|
rs2070075052
|
|
NM_001042492.3(NF1):c.7246C>T (p.Leu2416=)
|
rs786201310
|
|
NM_001042492.3(NF1):c.7254T>C (p.Thr2418=)
|
rs1597858465
|
|
NM_001042492.3(NF1):c.7254T>G (p.Thr2418=)
|
rs1597858465
|
|
NM_001042492.3(NF1):c.7260T>A (p.Val2420=)
|
rs2151572721
|
|
NM_001042492.3(NF1):c.7263C>T (p.Asn2421=)
|
rs1597858494
|
|
NM_001042492.3(NF1):c.7269C>T (p.His2423=)
|
|
|
NM_001042492.3(NF1):c.7272A>G (p.Arg2424=)
|
rs139997141
|
|
NM_001042492.3(NF1):c.7278T>C (p.Cys2426=)
|
rs1567623508
|
|
NM_001042492.3(NF1):c.7281C>T (p.Asp2427=)
|
rs1567623519
|
|
NM_001042492.3(NF1):c.7284A>G (p.Lys2428=)
|
rs1555536034
|
|
NM_001042492.3(NF1):c.7290A>G (p.Glu2430=)
|
rs2070077790
|
|
NM_001042492.3(NF1):c.7299A>C (p.Thr2433=)
|
rs1056697992
|
|
NM_001042492.3(NF1):c.730+10C>A
|
rs750468471
|
|
NM_001042492.3(NF1):c.730+13T>C
|
rs2066140403
|
|
NM_001042492.3(NF1):c.730+8T>C
|
rs1555608771
|
|
NM_001042492.3(NF1):c.730+8T>G
|
rs1555608771
|
|
NM_001042492.3(NF1):c.730+9A>G
|
|
|
NM_001042492.3(NF1):c.731-10T>C
|
rs2143784643
|
|
NM_001042492.3(NF1):c.731-13A>G
|
rs2143784617
|
|
NM_001042492.3(NF1):c.731-16T>C
|
rs1227193781
|
|
NM_001042492.3(NF1):c.731-17del
|
|
|
NM_001042492.3(NF1):c.731-18A>C
|
rs2143784520
|
|
NM_001042492.3(NF1):c.731-8T>G
|
rs1597659705
|
|
NM_001042492.3(NF1):c.7311C>T (p.Ala2437=)
|
rs876659893
|
|
NM_001042492.3(NF1):c.7315T>C (p.Leu2439=)
|
rs1597858629
|
|
NM_001042492.3(NF1):c.7321+10del
|
rs2151573014
|
|
NM_001042492.3(NF1):c.7321+7A>C
|
rs1348655573
|
|
NM_001042492.3(NF1):c.7321+7A>G
|
|
|
NM_001042492.3(NF1):c.7321+8C>T
|
rs1555536044
|
|
NM_001042492.3(NF1):c.7322-10T>G
|
rs759969966
|
|
NM_001042492.3(NF1):c.7322-13G>C
|
|
|
NM_001042492.3(NF1):c.7322-14C>G
|
|
|
NM_001042492.3(NF1):c.7322-18C>T
|
|
|
NM_001042492.3(NF1):c.7322-20T>C
|
|
|
NM_001042492.3(NF1):c.7322-20del
|
|
|
NM_001042492.3(NF1):c.7322-4T>C
|
rs2151574217
|
|
NM_001042492.3(NF1):c.7322-4T>G
|
|
|
NM_001042492.3(NF1):c.7322-6T>C
|
|
|
NM_001042492.3(NF1):c.7322-7C>T
|
rs2151574208
|
|
NM_001042492.3(NF1):c.7322-8C>T
|
|
|
NM_001042492.3(NF1):c.7323T>C (p.Ala2441=)
|
rs765750009
|
|
NM_001042492.3(NF1):c.7332A>T (p.Thr2444=)
|
rs759005886
|
|
NM_001042492.3(NF1):c.7341A>G (p.Glu2447=)
|
rs878853915
|
|
NM_001042492.3(NF1):c.7344A>G (p.Glu2448=)
|
rs374234848
|
|
NM_001042492.3(NF1):c.735T>C (p.Cys245=)
|
rs2143784885
|
|
NM_001042492.3(NF1):c.7371T>C (p.His2457=)
|
|
|
NM_001042492.3(NF1):c.7374A>G (p.Arg2458=)
|
|
|
NM_001042492.3(NF1):c.7380A>G (p.Ser2460=)
|
rs1597859662
|
|
NM_001042492.3(NF1):c.7383T>C (p.Leu2461=)
|
rs1555536133
|
|
NM_001042492.3(NF1):c.7386T>C (p.Leu2462=)
|
rs2151574445
|
|
NM_001042492.3(NF1):c.7389T>C (p.Leu2463=)
|
rs1032859497
|
|
NM_001042492.3(NF1):c.7401A>G (p.Ser2467=)
|
rs2151574490
|
|
NM_001042492.3(NF1):c.7416T>C (p.Pro2472=)
|
rs876659624
|
|
NM_001042492.3(NF1):c.7422T>C (p.Asp2474=)
|
|
|
NM_001042492.3(NF1):c.7428T>C (p.Tyr2476=)
|
rs181397225
|
|
NM_001042492.3(NF1):c.7437T>C (p.His2479=)
|
rs1355368926
|
|
NM_001042492.3(NF1):c.7443T>C (p.Gly2481=)
|
rs2151574639
|
|
NM_001042492.3(NF1):c.744G>A (p.Lys248=)
|
rs1597659771
|
|
NM_001042492.3(NF1):c.7452C>A (p.Ser2484=)
|
rs764502383
|
|
NM_001042492.3(NF1):c.7455T>C (p.Tyr2485=)
|
rs1597859871
|
|
NM_001042492.3(NF1):c.7457+13A>G
|
|
|
NM_001042492.3(NF1):c.7457+16C>A
|
|
|
NM_001042492.3(NF1):c.7457+17_7457+18del
|
rs2151574737
|
|
NM_001042492.3(NF1):c.7457+18C>A
|
|
|
NM_001042492.3(NF1):c.7457+18C>T
|
|
|
NM_001042492.3(NF1):c.7457+7G>A
|
rs2151574711
|
|
NM_001042492.3(NF1):c.7457+8G>A
|
rs376147282
|
|
NM_001042492.3(NF1):c.7458-13T>G
|
rs537290095
|
|
NM_001042492.3(NF1):c.7458-15G>C
|
|
|
NM_001042492.3(NF1):c.7458-17T>C
|
|
|
NM_001042492.3(NF1):c.7458-18A>G
|
rs371362605
|
|
NM_001042492.3(NF1):c.7458-19T>A
|
|
|
NM_001042492.3(NF1):c.7458-4T>C
|
rs2151576876
|
|
NM_001042492.3(NF1):c.7458-4T>G
|
|
|
NM_001042492.3(NF1):c.7458-6T>G
|
|
|
NM_001042492.3(NF1):c.7458-9A>C
|
rs2151576863
|
|
NM_001042492.3(NF1):c.7461A>C (p.Thr2487=)
|
rs149924365
|
|
NM_001042492.3(NF1):c.7461A>T (p.Thr2487=)
|
rs149924365
|
|
NM_001042492.3(NF1):c.7470G>A (p.Glu2490=)
|
rs1555536339
|
|
NM_001042492.3(NF1):c.7485C>G (p.Ser2495=)
|
|
|
NM_001042492.3(NF1):c.7500T>C (p.Ser2500=)
|
|
|
NM_001042492.3(NF1):c.7506A>T (p.Gly2502=)
|
rs775258088
|
|
NM_001042492.3(NF1):c.7509C>T (p.Tyr2503=)
|
rs1555536359
|
|
NM_001042492.3(NF1):c.7512T>A (p.Leu2504=)
|
rs1597862110
|
|
NM_001042492.3(NF1):c.7521C>T (p.Thr2507=)
|
rs2151577127
|
|
NM_001042492.3(NF1):c.7530T>A (p.Thr2510=)
|
rs1597862150
|
|
NM_001042492.3(NF1):c.7530T>G (p.Thr2510=)
|
|
|
NM_001042492.3(NF1):c.7533C>G (p.Val2511=)
|
rs760733171
|
|
NM_001042492.3(NF1):c.753C>T (p.Asp251=)
|
rs1567826636
|
|
NM_001042492.3(NF1):c.7542C>A (p.Thr2514=)
|
|
|
NM_001042492.3(NF1):c.7542C>T (p.Thr2514=)
|
rs1444018213
|
|
NM_001042492.3(NF1):c.7548C>T (p.Pro2516=)
|
rs2151577235
|
|
NM_001042492.3(NF1):c.754T>C (p.Leu252=)
|
rs2143785138
|
|
NM_001042492.3(NF1):c.7554C>A (p.Ala2518=)
|
|
|
NM_001042492.3(NF1):c.7557G>A (p.Arg2519=)
|
rs2151577269
|
|
NM_001042492.3(NF1):c.7560A>G (p.Lys2520=)
|
rs1597862203
|
|
NM_001042492.3(NF1):c.7569C>T (p.Ser2523=)
|
rs786201476
|
|
NM_001042492.3(NF1):c.756G>A (p.Leu252=)
|
|
|
NM_001042492.3(NF1):c.7570C>T (p.Leu2524=)
|
rs1555536366
|
|
NM_001042492.3(NF1):c.7581G>C (p.Gly2527=)
|
rs1555536369
|
|
NM_001042492.3(NF1):c.7590T>C (p.Ser2530=)
|
rs1597862243
|
|
NM_001042492.3(NF1):c.7596C>T (p.Ala2532=)
|
rs864622517
|
|
NM_001042492.3(NF1):c.7599C>T (p.Asn2533=)
|
rs1597862269
|
|
NM_001042492.3(NF1):c.75A>C (p.Thr25=)
|
rs768754175
|
|
NM_001042492.3(NF1):c.7608G>A (p.Lys2536=)
|
rs1597862283
|
|
NM_001042492.3(NF1):c.7609T>C (p.Leu2537=)
|
rs748843392
|
|
NM_001042492.3(NF1):c.7611G>A (p.Leu2537=)
|
rs1597862289
|
|
NM_001042492.3(NF1):c.7614T>C (p.Leu2538=)
|
rs1555536374
|
|
NM_001042492.3(NF1):c.7615+11C>A
|
|
|
NM_001042492.3(NF1):c.7615+15A>C
|
rs2151577502
|
|
NM_001042492.3(NF1):c.7615+18A>G
|
rs772484540
|
|
NM_001042492.3(NF1):c.7615+20G>A
|
|
|
NM_001042492.3(NF1):c.7615+8T>C
|
rs1555536383
|
|
NM_001042492.3(NF1):c.7615+9A>G
|
rs748539880
|
|
NM_001042492.3(NF1):c.7615+9A>T
|
rs748539880
|
|
NM_001042492.3(NF1):c.7616-18C>T
|
|
|
NM_001042492.3(NF1):c.7616-4A>T
|
rs761675429
|
|
NM_001042492.3(NF1):c.7616-5T>C
|
rs1597865732
|
|
NM_001042492.3(NF1):c.7616-9T>C
|
rs1555536631
|
|
NM_001042492.3(NF1):c.7629T>C (p.Ser2543=)
|
|
|
NM_001042492.3(NF1):c.7638C>T (p.His2546=)
|
rs2151581056
|
|
NM_001042492.3(NF1):c.7639T>C (p.Leu2547=)
|
rs1597865750
|
|
NM_001042492.3(NF1):c.7653A>C (p.Thr2551=)
|
|
|
NM_001042492.3(NF1):c.7656G>A (p.Lys2552=)
|
rs2151581103
|
|
NM_001042492.3(NF1):c.7671A>G (p.Gln2557=)
|
|
|
NM_001042492.3(NF1):c.7683A>G (p.Ser2561=)
|
rs1555536646
|
|
NM_001042492.3(NF1):c.7686G>A (p.Gly2562=)
|
|
|
NM_001042492.3(NF1):c.7689C>A (p.Ile2563=)
|
rs2151581233
|
|
NM_001042492.3(NF1):c.7689C>T (p.Ile2563=)
|
|
|
NM_001042492.3(NF1):c.7695A>G (p.Thr2565=)
|
rs753391618
|
|
NM_001042492.3(NF1):c.7701C>G (p.Pro2567=)
|
rs747806648
|
|
NM_001042492.3(NF1):c.7701C>T (p.Pro2567=)
|
rs747806648
|
|
NM_001042492.3(NF1):c.7716A>G (p.Val2572=)
|
|
|
NM_001042492.3(NF1):c.7719A>G (p.Ala2573=)
|
|
|
NM_001042492.3(NF1):c.7719A>T (p.Ala2573=)
|
rs2151581336
|
|
NM_001042492.3(NF1):c.771T>C (p.Ala257=)
|
rs766932517
|
|
NM_001042492.3(NF1):c.7728T>C (p.Asp2576=)
|
rs876658892
|
|
NM_001042492.3(NF1):c.7731T>C (p.Tyr2577=)
|
|
|
NM_001042492.3(NF1):c.7738+10A>G
|
rs759661081
|
|
NM_001042492.3(NF1):c.7738+10A>T
|
rs759661081
|
|
NM_001042492.3(NF1):c.7738+16T>C
|
|
|
NM_001042492.3(NF1):c.7738+8del
|
rs1597865876
|
|
NM_001042492.3(NF1):c.7738+8dup
|
|
|
NM_001042492.3(NF1):c.7738+9C>A
|
|
|
NM_001042492.3(NF1):c.7738+9C>T
|
|
|
NM_001042492.3(NF1):c.7739-10C>G
|
rs1256512888
|
|
NM_001042492.3(NF1):c.7739-14C>G
|
|
|
NM_001042492.3(NF1):c.7739-14C>T
|
|
|
NM_001042492.3(NF1):c.7739-16C>T
|
rs752306621
|
|
NM_001042492.3(NF1):c.7739-17T>G
|
|
|
NM_001042492.3(NF1):c.7739-20A>G
|
|
|
NM_001042492.3(NF1):c.7739-7G>C
|
|
|
NM_001042492.3(NF1):c.7739-7G>T
|
rs1446289520
|
|
NM_001042492.3(NF1):c.7739-9T>G
|
rs2151582112
|
|
NM_001042492.3(NF1):c.7743T>C (p.Thr2581=)
|
rs2151582163
|
|
NM_001042492.3(NF1):c.7747A>C (p.Arg2583=)
|
rs2151582187
|
|
NM_001042492.3(NF1):c.774A>G (p.Glu258=)
|
rs1555608947
|
|
NM_001042492.3(NF1):c.7752T>C (p.Ile2584=)
|
rs2151582205
|
|
NM_001042492.3(NF1):c.7758A>G (p.Ser2586=)
|
|
|
NM_001042492.3(NF1):c.7758A>T (p.Ser2586=)
|
rs876658564
|
|
NM_001042492.3(NF1):c.7761A>G (p.Ser2587=)
|
rs1597866360
|
|
NM_001042492.3(NF1):c.7764A>G (p.Gln2588=)
|
rs2151582238
|
|
NM_001042492.3(NF1):c.7770C>T (p.His2590=)
|
rs1060503906
|
|
NM_001042492.3(NF1):c.7773A>G (p.Pro2591=)
|
|
|
NM_001042492.3(NF1):c.7779A>G (p.Leu2593=)
|
|
|
NM_001042492.3(NF1):c.7791A>G (p.Ser2597=)
|
|
|
NM_001042492.3(NF1):c.7791A>T (p.Ser2597=)
|
rs1597866426
|
|
NM_001042492.3(NF1):c.7794G>A (p.Val2598=)
|
rs1555536699
|
|
NM_001042492.3(NF1):c.7797T>C (p.Ser2599=)
|
|
|
NM_001042492.3(NF1):c.7800A>G (p.Glu2600=)
|
|
|
NM_001042492.3(NF1):c.7803A>C (p.Ser2601=)
|
rs1555536700
|
|
NM_001042492.3(NF1):c.7806T>C (p.Asn2602=)
|
rs2070288476
|
|
NM_001042492.3(NF1):c.7807G>C (p.Val2603Leu)
|
rs766135206
|
|
NM_001042492.3(NF1):c.780C>T (p.Thr260=)
|
rs1358425599
|
|
NM_001042492.3(NF1):c.7812C>A (p.Leu2604=)
|
rs1555536702
|
|
NM_001042492.3(NF1):c.7812C>G (p.Leu2604=)
|
rs1555536702
|
|
NM_001042492.3(NF1):c.7812C>T (p.Leu2604=)
|
rs1555536702
|
|
NM_001042492.3(NF1):c.7815G>A (p.Leu2605=)
|
rs1555536703
|
|
NM_001042492.3(NF1):c.7827A>G (p.Val2609=)
|
rs1597866497
|
|
NM_001042492.3(NF1):c.7830T>G (p.Leu2610=)
|
rs1555536705
|
|
NM_001042492.3(NF1):c.7833T>C (p.Thr2611=)
|
rs786202445
|
|
NM_001042492.3(NF1):c.7839G>C (p.Pro2613=)
|
rs752218441
|
|
NM_001042492.3(NF1):c.783A>G (p.Lys261=)
|
rs2143785572
|
|
NM_001042492.3(NF1):c.7845C>T (p.Ile2615=)
|
rs876659117
|
|
NM_001042492.3(NF1):c.7851G>A (p.Ala2617=)
|
rs751273275
|
|
NM_001042492.3(NF1):c.7851_7852delinsCT (p.Ala2617_Leu2618=)
|
rs1597866565
|
|
NM_001042492.3(NF1):c.7852C>T (p.Leu2618=)
|
rs1175965670
|
|
NM_001042492.3(NF1):c.7854G>A (p.Leu2618=)
|
rs1597866574
|
|
NM_001042492.3(NF1):c.7854G>C (p.Leu2618=)
|
rs1597866574
|
|
NM_001042492.3(NF1):c.7857T>G (p.Leu2619=)
|
rs2151582527
|
|
NM_001042492.3(NF1):c.7863T>A (p.Thr2621=)
|
|
|
NM_001042492.3(NF1):c.7863T>C (p.Thr2621=)
|
|
|
NM_001042492.3(NF1):c.7869+11C>A
|
rs746332598
|
|
NM_001042492.3(NF1):c.7869+11C>T
|
rs746332598
|
|
NM_001042492.3(NF1):c.7869+12C>G
|
|
|
NM_001042492.3(NF1):c.7869+15T>C
|
|
|
NM_001042492.3(NF1):c.7869+16T>C
|
rs2151582629
|
|
NM_001042492.3(NF1):c.7869+17T>C
|
|
|
NM_001042492.3(NF1):c.7869+19dup
|
rs2151582627
|
|
NM_001042492.3(NF1):c.7869+7A>T
|
|
|
NM_001042492.3(NF1):c.7869+8T>G
|
rs2151582586
|
|
NM_001042492.3(NF1):c.7870-10A>C
|
rs1597866772
|
|
NM_001042492.3(NF1):c.7870-10A>G
|
rs1597866772
|
|
NM_001042492.3(NF1):c.7870-11C>T
|
|
|
NM_001042492.3(NF1):c.7870-14T>A
|
|
|
NM_001042492.3(NF1):c.7870-15T>G
|
rs2151583113
|
|
NM_001042492.3(NF1):c.7870-17T>C
|
|
|
NM_001042492.3(NF1):c.7870-18T>A
|
rs1018087992
|
|
NM_001042492.3(NF1):c.7870-18T>G
|
|
|
NM_001042492.3(NF1):c.7870-4G>A
|
|
|
NM_001042492.3(NF1):c.7870-5G>C
|
|
|
NM_001042492.3(NF1):c.7870-5G>T
|
rs1169181885
|
|
NM_001042492.3(NF1):c.7870-7T>C
|
rs2151583138
|
|
NM_001042492.3(NF1):c.7870-8C>T
|
rs372441422
|
|
NM_001042492.3(NF1):c.7872T>C (p.Ala2624=)
|
rs1399938334
|
|
NM_001042492.3(NF1):c.7878G>A (p.Leu2626=)
|
rs1022364851
|
|
NM_001042492.3(NF1):c.7890C>T (p.Thr2630=)
|
|
|
NM_001042492.3(NF1):c.7893A>C (p.Thr2631=)
|
|
|
NM_001042492.3(NF1):c.7893A>G (p.Thr2631=)
|
|
|
NM_001042492.3(NF1):c.7896T>C (p.Asp2632=)
|
rs1277560744
|
|
NM_001042492.3(NF1):c.7899G>A (p.Glu2633=)
|
rs1597866857
|
|
NM_001042492.3(NF1):c.78A>G (p.Gly26=)
|
|
|
NM_001042492.3(NF1):c.7908A>G (p.Gln2636=)
|
rs2151583269
|
|
NM_001042492.3(NF1):c.7911A>T (p.Arg2637=)
|
rs1597866885
|
|
NM_001042492.3(NF1):c.7923A>G (p.Glu2641=)
|
rs1597866925
|
|
NM_001042492.3(NF1):c.7926C>T (p.Tyr2642=)
|
|
|
NM_001042492.3(NF1):c.7938C>T (p.Ala2646=)
|
|
|
NM_001042492.3(NF1):c.7941T>C (p.Ser2647=)
|
rs2151583381
|
|
NM_001042492.3(NF1):c.7947G>C (p.Val2649=)
|
rs2151583400
|
|
NM_001042492.3(NF1):c.7950T>C (p.Phe2650=)
|
rs1597866963
|
|
NM_001042492.3(NF1):c.7953C>T (p.Pro2651=)
|
rs779167139
|
|
NM_001042492.3(NF1):c.7959C>A (p.Val2653=)
|
rs1555536767
|
|
NM_001042492.3(NF1):c.7959C>T (p.Val2653=)
|
rs1555536767
|
|
NM_001042492.3(NF1):c.795A>C (p.Ala265=)
|
rs1597659909
|
|
NM_001042492.3(NF1):c.7965T>G (p.Pro2655=)
|
rs748355760
|
|
NM_001042492.3(NF1):c.7968T>G (p.Val2656=)
|
rs1555536771
|
|
NM_001042492.3(NF1):c.7970+11C>G
|
rs1366551996
|
|
NM_001042492.3(NF1):c.7970+15T>C
|
|
|
NM_001042492.3(NF1):c.7970+19T>C
|
rs1385428545
|
|
NM_001042492.3(NF1):c.7970+7A>G
|
rs1597867052
|
|
NM_001042492.3(NF1):c.7970+7dup
|
|
|
NM_001042492.3(NF1):c.7970+9C>G
|
|
|
NM_001042492.3(NF1):c.7971-10T>C
|
|
|
NM_001042492.3(NF1):c.7971-13T>C
|
|
|
NM_001042492.3(NF1):c.7971-13T>G
|
|
|
NM_001042492.3(NF1):c.7971-15T>C
|
|
|
NM_001042492.3(NF1):c.7971-17C>T
|
|
|
NM_001042492.3(NF1):c.7971-19G>A
|
|
|
NM_001042492.3(NF1):c.7971-4T>C
|
|
|
NM_001042492.3(NF1):c.7971-4T>G
|
rs1555536865
|
|
NM_001042492.3(NF1):c.7971-7C>T
|
rs754359027
|
|
NM_001042492.3(NF1):c.7971-9T>C
|
rs2151584749
|
|
NM_001042492.3(NF1):c.7986C>T (p.Asp2662=)
|
rs876658550
|
|
NM_001042492.3(NF1):c.7989T>A (p.Ser2663=)
|
rs1555536881
|
|
NM_001042492.3(NF1):c.7989T>C (p.Ser2663=)
|
rs1555536881
|
|
NM_001042492.3(NF1):c.7992G>A (p.Lys2664=)
|
rs1060500377
|
|
NM_001042492.3(NF1):c.7995C>T (p.Ile2665=)
|
rs1037082087
|
|
NM_001042492.3(NF1):c.8001C>A (p.Thr2667=)
|
rs876658475
|
|
NM_001042492.3(NF1):c.8001C>T (p.Thr2667=)
|
rs876658475
|
|
NM_001042492.3(NF1):c.8002C>T (p.Leu2668=)
|
rs1060503905
|
|
NM_001042492.3(NF1):c.8004G>A (p.Leu2668=)
|
rs1597868098
|
|
NM_001042492.3(NF1):c.8004G>C (p.Leu2668=)
|
rs1597868098
|
|
NM_001042492.3(NF1):c.8007A>G (p.Leu2669=)
|
rs2151584878
|
|
NM_001042492.3(NF1):c.8010A>G (p.Ser2670=)
|
|
|
NM_001042492.3(NF1):c.8011T>C (p.Leu2671=)
|
|
|
NM_001042492.3(NF1):c.8022T>C (p.Asp2674=)
|
|
|
NM_001042492.3(NF1):c.8029T>C (p.Leu2677=)
|
rs1207400434
|
|
NM_001042492.3(NF1):c.8031G>A (p.Leu2677=)
|
rs1555536905
|
|
NM_001042492.3(NF1):c.8032T>C (p.Leu2678=)
|
|
|
NM_001042492.3(NF1):c.8040A>T (p.Pro2680=)
|
rs749163014
|
|
NM_001042492.3(NF1):c.804A>C (p.Pro268=)
|
rs759964997
|
|
NM_001042492.3(NF1):c.804A>G (p.Pro268=)
|
rs759964997
|
|
NM_001042492.3(NF1):c.8055G>A (p.Val2685=)
|
|
|
NM_001042492.3(NF1):c.8055G>T (p.Val2685=)
|
rs1245392693
|
|
NM_001042492.3(NF1):c.805C>T (p.Leu269=)
|
rs786202456
|
|
NM_001042492.3(NF1):c.8064G>A (p.Val2688=)
|
rs876659082
|
|
NM_001042492.3(NF1):c.8064G>T (p.Val2688=)
|
|
|
NM_001042492.3(NF1):c.8067G>T (p.Val2689=)
|
rs2151585058
|
|
NM_001042492.3(NF1):c.8073T>C (p.His2691=)
|
rs375468032
|
|
NM_001042492.3(NF1):c.807A>G (p.Leu269=)
|
rs1333394353
|
|
NM_001042492.3(NF1):c.8082C>T (p.Ser2694=)
|
rs1597868236
|
|
NM_001042492.3(NF1):c.8088A>C (p.Pro2696=)
|
rs2151585111
|
|
NM_001042492.3(NF1):c.8088A>G (p.Pro2696=)
|
|
|
NM_001042492.3(NF1):c.8094C>T (p.Tyr2698=)
|
rs1597868268
|
|
NM_001042492.3(NF1):c.8100A>G (p.Thr2700=)
|
rs1597868278
|
|
NM_001042492.3(NF1):c.8103T>G (p.Ser2701=)
|
rs1555536935
|
|
NM_001042492.3(NF1):c.8107C>T (p.Leu2703=)
|
rs955074155
|
|
NM_001042492.3(NF1):c.8109G>A (p.Leu2703=)
|
rs1397862679
|
|
NM_001042492.3(NF1):c.8113+10T>A
|
rs1336997870
|
|
NM_001042492.3(NF1):c.8113+10T>C
|
rs1336997870
|
|
NM_001042492.3(NF1):c.8113+13A>T
|
|
|
NM_001042492.3(NF1):c.8113+14T>A
|
rs2151585204
|
|
NM_001042492.3(NF1):c.8113+14T>C
|
|
|
NM_001042492.3(NF1):c.8113+15C>T
|
|
|
NM_001042492.3(NF1):c.8113+17G>A
|
|
|
NM_001042492.3(NF1):c.8113+19A>G
|
|
|
NM_001042492.3(NF1):c.8113+9A>T
|
rs2151585184
|
|
NM_001042492.3(NF1):c.8114-12G>C
|
|
|
NM_001042492.3(NF1):c.8114-13dup
|
|
|
NM_001042492.3(NF1):c.8114-14T>C
|
rs2151585916
|
|
NM_001042492.3(NF1):c.8114-17A>G
|
|
|
NM_001042492.3(NF1):c.8114-40_8114-18del
|
|
|
NM_001042492.3(NF1):c.8114-8T>G
|
|
|
NM_001042492.3(NF1):c.8118T>C (p.Phe2706=)
|
|
|
NM_001042492.3(NF1):c.8127T>C (p.Asn2709=)
|
rs1555537015
|
|
NM_001042492.3(NF1):c.8131T>C (p.Leu2711=)
|
|
|
NM_001042492.3(NF1):c.8137C>A (p.Arg2713=)
|
rs757391670
|
|
NM_001042492.3(NF1):c.8142T>C (p.Phe2714=)
|
rs2151586040
|
|
NM_001042492.3(NF1):c.8145A>G (p.Ala2715=)
|
rs1555537028
|
|
NM_001042492.3(NF1):c.8151G>C (p.Pro2717=)
|
rs2285895
|
|
NM_001042492.3(NF1):c.8160+10T>A
|
|
|
NM_001042492.3(NF1):c.8160+10T>C
|
rs2151586114
|
|
NM_001042492.3(NF1):c.8160+11A>G
|
|
|
NM_001042492.3(NF1):c.8160+18T>A
|
|
|
NM_001042492.3(NF1):c.8160+20T>C
|
|
|
NM_001042492.3(NF1):c.8161-12T>C
|
|
|
NM_001042492.3(NF1):c.8161-14A>G
|
rs2070372493
|
|
NM_001042492.3(NF1):c.8161-16C>A
|
|
|
NM_001042492.3(NF1):c.8161-16C>G
|
|
|
NM_001042492.3(NF1):c.8161-17C>T
|
rs2151587536
|
|
NM_001042492.3(NF1):c.8161-18T>C
|
|
|
NM_001042492.3(NF1):c.8161-4A>G
|
rs2151587589
|
|
NM_001042492.3(NF1):c.8161-4A>T
|
|
|
NM_001042492.3(NF1):c.8161-5del
|
rs2151587581
|
|
NM_001042492.3(NF1):c.8161-7A>G
|
rs767623039
|
|
NM_001042492.3(NF1):c.8161-8C>A
|
rs1425972521
|
|
NM_001042492.3(NF1):c.8161-8C>T
|
rs1425972521
|
|
NM_001042492.3(NF1):c.8161-9C>G
|
|
|
NM_001042492.3(NF1):c.8161-9C>T
|
|
|
NM_001042492.3(NF1):c.8166A>G (p.Thr2722=)
|
rs2151587620
|
|
NM_001042492.3(NF1):c.8169A>G (p.Gln2723=)
|
|
|
NM_001042492.3(NF1):c.8175A>G (p.Pro2725=)
|
rs1597870102
|
|
NM_001042492.3(NF1):c.8181T>C (p.Tyr2727=)
|
|
|
NM_001042492.3(NF1):c.8184T>C (p.Ala2728=)
|
|
|
NM_001042492.3(NF1):c.8184T>G (p.Ala2728=)
|
rs1597870116
|
|
NM_001042492.3(NF1):c.8187G>A (p.Glu2729=)
|
|
|
NM_001042492.3(NF1):c.8194_8196del (p.Val2732del)
|
rs2151587729
|
|
NM_001042492.3(NF1):c.8196T>G (p.Val2732=)
|
rs1597870128
|
|
NM_001042492.3(NF1):c.819C>T (p.Leu273=)
|
rs765595990
|
|
NM_001042492.3(NF1):c.81G>A (p.Gln27=)
|
rs1597625846
|
|
NM_001042492.3(NF1):c.8202T>C (p.Phe2734=)
|
rs764884159
|
|
NM_001042492.3(NF1):c.8211C>G (p.Ala2737=)
|
rs1597870152
|
|
NM_001042492.3(NF1):c.8214G>A (p.Leu2738=)
|
rs786201597
|
|
NM_001042492.3(NF1):c.8222C>T (p.Thr2741Met)
|
rs144178015
|
|
NM_001042492.3(NF1):c.8223G>A (p.Thr2741=)
|
rs777755159
|
|
NM_001042492.3(NF1):c.8223G>T (p.Thr2741=)
|
rs777755159
|
|
NM_001042492.3(NF1):c.8226C>T (p.Tyr2742=)
|
rs2151587846
|
|
NM_001042492.3(NF1):c.8229G>A (p.Leu2743=)
|
rs1060503917
|
|
NM_001042492.3(NF1):c.822T>C (p.Leu274=)
|
rs1597659964
|
|
NM_001042492.3(NF1):c.8250C>G (p.Thr2750=)
|
rs769488796
|
|
NM_001042492.3(NF1):c.8250C>T (p.Thr2750=)
|
rs769488796
|
|
NM_001042492.3(NF1):c.825C>T (p.Ile275=)
|
rs1597659985
|
|
NM_001042492.3(NF1):c.8262C>A (p.Ser2754=)
|
rs1304800176
|
|
NM_001042492.3(NF1):c.8265C>T (p.Leu2755=)
|
rs963516381
|
|
NM_001042492.3(NF1):c.8271T>A (p.Thr2757=)
|
rs2151587996
|
|
NM_001042492.3(NF1):c.8271T>C (p.Thr2757=)
|
rs2151587996
|
|
NM_001042492.3(NF1):c.8274C>A (p.Pro2758=)
|
rs1597870233
|
|
NM_001042492.3(NF1):c.8277A>G (p.Thr2759=)
|
|
|
NM_001042492.3(NF1):c.8283T>G (p.Pro2761=)
|
rs1597870236
|
|
NM_001042492.3(NF1):c.8286C>T (p.Tyr2762=)
|
rs1597870245
|
|
NM_001042492.3(NF1):c.828G>A (p.Leu276=)
|
rs2143786216
|
|
NM_001042492.3(NF1):c.8292T>C (p.Pro2764=)
|
rs1555537246
|
|
NM_001042492.3(NF1):c.8295A>G (p.Ala2765=)
|
|
|
NM_001042492.3(NF1):c.8296C>T (p.Leu2766=)
|
rs749647961
|
|
NM_001042492.3(NF1):c.8301G>A (p.Gln2767=)
|
rs1597870264
|
|
NM_001042492.3(NF1):c.8304C>T (p.Ser2768=)
|
rs1555537250
|
|
NM_001042492.3(NF1):c.831T>C (p.Cys277=)
|
rs2143786248
|
|
NM_001042492.3(NF1):c.8337T>C (p.Ser2779=)
|
rs1597870309
|
|
NM_001042492.3(NF1):c.8343C>A (p.Ser2781=)
|
rs2151588196
|
|
NM_001042492.3(NF1):c.834A>G (p.Pro278=)
|
rs1318820078
|
|
NM_001042492.3(NF1):c.8352A>G (p.Ser2784=)
|
|
|
NM_001042492.3(NF1):c.8367G>A (p.Gln2789=)
|
rs786201780
|
|
NM_001042492.3(NF1):c.8377+10T>C
|
rs1321286725
|
|
NM_001042492.3(NF1):c.8377+16del
|
|
|
NM_001042492.3(NF1):c.8377+18T>G
|
|
|
NM_001042492.3(NF1):c.8377+19T>C
|
|
|
NM_001042492.3(NF1):c.8377+20A>C
|
|
|
NM_001042492.3(NF1):c.8377+7A>G
|
|
|
NM_001042492.3(NF1):c.8378-10T>C
|
rs2151601186
|
|
NM_001042492.3(NF1):c.8378-11T>C
|
rs2151601181
|
|
NM_001042492.3(NF1):c.8378-13T>C
|
rs903336927
|
|
NM_001042492.3(NF1):c.8378-13T>G
|
rs903336927
|
|
NM_001042492.3(NF1):c.8378-14C>A
|
rs372802636
|
|
NM_001042492.3(NF1):c.8378-14C>G
|
rs372802636
|
|
NM_001042492.3(NF1):c.8378-14C>T
|
|
|
NM_001042492.3(NF1):c.8378-15T>A
|
|
|
NM_001042492.3(NF1):c.8378-17G>A
|
rs2151601146
|
|
NM_001042492.3(NF1):c.8378-17G>C
|
rs2151601146
|
|
NM_001042492.3(NF1):c.8378-20G>A
|
|
|
NM_001042492.3(NF1):c.8378-20G>T
|
rs2151601130
|
|
NM_001042492.3(NF1):c.8378-8T>G
|
|
|
NM_001042492.3(NF1):c.8378-9T>C
|
rs1453787016
|
|
NM_001042492.3(NF1):c.8379A>G (p.Gly2793=)
|
rs1597882952
|
|
NM_001042492.3(NF1):c.8382C>A (p.Ile2794=)
|
rs1060503890
|
|
NM_001042492.3(NF1):c.8382C>T (p.Ile2794=)
|
rs1060503890
|
|
NM_001042492.3(NF1):c.8400A>G (p.Glu2800=)
|
rs1597883005
|
|
NM_001042492.3(NF1):c.8403C>G (p.Leu2801=)
|
|
|
NM_001042492.3(NF1):c.8412C>T (p.Thr2804=)
|
rs1555538531
|
|
NM_001042492.3(NF1):c.8418C>T (p.Gly2806=)
|
rs1555538535
|
|
NM_001042492.3(NF1):c.8427C>T (p.Asn2809=)
|
rs2151601390
|
|
NM_001042492.3(NF1):c.843C>T (p.Ile281=)
|
rs146094856
|
|
NM_001042492.3(NF1):c.8445C>T (p.His2815=)
|
rs1597883082
|
|
NM_001042492.3(NF1):c.8451C>A (p.Ser2817=)
|
|
|
NM_001042492.3(NF1):c.8457C>T (p.Ser2819=)
|
|
|
NM_001042492.3(NF1):c.8460A>G (p.Gln2820=)
|
rs2070696927
|
|
NM_001042492.3(NF1):c.8466G>A (p.Gln2822=)
|
rs2151601527
|
|
NM_001042492.3(NF1):c.8469G>A (p.Lys2823=)
|
rs1203883572
|
|
NM_001042492.3(NF1):c.8472A>G (p.Gln2824=)
|
rs2151601534
|
|
NM_001042492.3(NF1):c.8481T>C (p.Ala2827=)
|
rs1555538546
|
|
NM_001042492.3(NF1):c.849T>C (p.Asp283=)
|
rs2143786554
|
|
NM_001042492.3(NF1):c.8505T>C (p.Ile2835=)
|
rs1192855534
|
|
NM_001042492.3(NF1):c.8511G>A (p.Lys2837=)
|
rs752398289
|
|
NM_001042492.3(NF1):c.8519G>A (p.Ter2840=)
|
rs2151601679
|
|
NM_001042492.3(NF1):c.855C>T (p.Ser285=)
|
rs1445215573
|
|
NM_001042492.3(NF1):c.864G>T (p.Val288=)
|
rs201181517
|
|
NM_001042492.3(NF1):c.867T>G (p.Val289=)
|
|
|
NM_001042492.3(NF1):c.879C>T (p.Asn293=)
|
rs1597660105
|
|
NM_001042492.3(NF1):c.87C>T (p.Asn29=)
|
rs1060503914
|
|
NM_001042492.3(NF1):c.888+11C>A
|
|
|
NM_001042492.3(NF1):c.888+18A>C
|
rs2143787331
|
|
NM_001042492.3(NF1):c.888+19T>A
|
|
|
NM_001042492.3(NF1):c.888+19T>C
|
|
|
NM_001042492.3(NF1):c.888+3A>G
|
rs2143787137
|
|
NM_001042492.3(NF1):c.888+6G>T
|
rs1555609000
|
|
NM_001042492.3(NF1):c.888+9G>T
|
rs1274043045
|
|
NM_001042492.3(NF1):c.889-16T>C
|
rs2143871571
|
|
NM_001042492.3(NF1):c.889-18T>C
|
|
|
NM_001042492.3(NF1):c.889-19C>T
|
|
|
NM_001042492.3(NF1):c.889-20G>T
|
|
|
NM_001042492.3(NF1):c.889-21C>T
|
|
|
NM_001042492.3(NF1):c.889-22_889-20del
|
|
|
NM_001042492.3(NF1):c.900G>C (p.Leu300=)
|
rs1597680750
|
|
NM_001042492.3(NF1):c.903C>T (p.Asp301=)
|
|
|
NM_001042492.3(NF1):c.906T>C (p.Ser302=)
|
|
|
NM_001042492.3(NF1):c.918T>A (p.Ala306=)
|
|
|
NM_001042492.3(NF1):c.921T>A (p.Leu307=)
|
|
|
NM_001042492.3(NF1):c.930T>C (p.His310=)
|
rs1555610865
|
|
NM_001042492.3(NF1):c.936A>C (p.Gly312=)
|
rs876658874
|
|
NM_001042492.3(NF1):c.942G>A (p.Arg314=)
|
rs786203445
|
|
NM_001042492.3(NF1):c.946C>T (p.Leu316=)
|
|
|
NM_001042492.3(NF1):c.948G>C (p.Leu316=)
|
rs876658782
|
|
NM_001042492.3(NF1):c.951A>G (p.Thr317=)
|
|
|
NM_001042492.3(NF1):c.957T>C (p.Ser319=)
|
rs2143872954
|
|
NM_001042492.3(NF1):c.960T>G (p.Ala320=)
|
rs376447070
|
|
NM_001042492.3(NF1):c.963A>G (p.Ala321=)
|
|
|
NM_001042492.3(NF1):c.969C>G (p.Ala323=)
|
rs786201462
|
|
NM_001042492.3(NF1):c.96C>A (p.Thr32=)
|
rs1555604886
|
|
NM_001042492.3(NF1):c.96C>G (p.Thr32=)
|
rs1555604886
|
|
NM_001042492.3(NF1):c.975C>T (p.Val325=)
|
rs747954452
|
|
NM_001042492.3(NF1):c.978A>G (p.Lys326=)
|
rs1555610891
|
|
NM_001042492.3(NF1):c.993T>C (p.Ser331=)
|
|
|
NM_001042492.3(NF1):c.996T>A (p.Thr332=)
|
rs2143873555
|
|
NM_001042492.3(NF1):c.996T>C (p.Thr332=)
|
|
|
NM_001042492.3(NF1):c.999C>T (p.Tyr333=)
|
rs1466912192
|
|