ClinVar Miner

List of variants in gene NF1 studied for Hereditary cancer-predisposing syndrome

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Gene type:
ClinVar version:
Total variants: 1632
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HGVS dbSNP
NM_000267.3(NF1):c.1004A>G (p.Asn335Ser) rs758212945
NM_000267.3(NF1):c.105T>C (p.Ser35=) rs370026303
NM_000267.3(NF1):c.1062G>A (p.Lys354=) rs1131691118
NM_000267.3(NF1):c.107C>T (p.Thr36Ile) rs199966218
NM_000267.3(NF1):c.1085A>G (p.Lys362Arg) rs1555610976
NM_000267.3(NF1):c.1107G>A (p.Gln369=) rs1193249274
NM_000267.3(NF1):c.1138C>T (p.Leu380Phe) rs1426127948
NM_000267.3(NF1):c.1160G>A (p.Ser387Asn) rs1555611025
NM_000267.3(NF1):c.1176A>G (p.Gln392=) rs566220983
NM_000267.3(NF1):c.117C>T (p.Asn39=) rs1555604894
NM_000267.3(NF1):c.1182T>G (p.Phe394Leu) rs786202581
NM_000267.3(NF1):c.1186-4A>G rs769295150
NM_000267.3(NF1):c.1186A>C (p.Ile396Leu) rs1413735911
NM_000267.3(NF1):c.1224T>A (p.Tyr408Ter) rs1555611089
NM_000267.3(NF1):c.1243C>T (p.His415Tyr)
NM_000267.3(NF1):c.129A>C (p.Leu43=) rs759576680
NM_000267.3(NF1):c.1302T>A (p.Cys434Ter) rs1555611570
NM_000267.3(NF1):c.1309G>T (p.Val437Phe) rs1555611574
NM_000267.3(NF1):c.1310T>C (p.Val437Ala) rs876658642
NM_000267.3(NF1):c.1325T>C (p.Met442Thr) rs1555611580
NM_000267.3(NF1):c.1342C>T (p.His448Tyr) rs1131691257
NM_000267.3(NF1):c.1356A>C (p.Gln452His) rs1324833228
NM_000267.3(NF1):c.1356A>G (p.Gln452=) rs1324833228
NM_000267.3(NF1):c.1381C>T (p.Arg461Ter) rs878853865
NM_000267.3(NF1):c.1382G>T (p.Arg461Leu) rs1555611606
NM_000267.3(NF1):c.1387G>C (p.Ala463Pro) rs1555611607
NM_000267.3(NF1):c.1392+4A>G rs1555611611
NM_000267.3(NF1):c.1392+5G>T rs199999754
NM_000267.3(NF1):c.1393-1G>T rs1131691131
NM_000267.3(NF1):c.1413A>G (p.Lys471=) rs1309932338
NM_000267.3(NF1):c.1429T>C (p.Phe477Leu) rs1555612276
NM_000267.3(NF1):c.1442C>T (p.Pro481Leu) rs1355572914
NM_000267.3(NF1):c.1444A>G (p.Thr482Ala) rs770201871
NM_000267.3(NF1):c.1458A>C (p.Thr486=) rs878853866
NM_000267.3(NF1):c.1466A>G (p.Tyr489Cys) rs137854557
NM_000267.3(NF1):c.1479C>G (p.Leu493=) rs139653388
NM_000267.3(NF1):c.149A>G (p.Lys50Arg) rs1555604907
NM_000267.3(NF1):c.1515G>A (p.Lys505=) rs1555612290
NM_000267.3(NF1):c.1528-1G>T rs876660595
NM_000267.3(NF1):c.1548C>G (p.Pro516=) rs768883989
NM_000267.3(NF1):c.1549G>A (p.Glu517Lys) rs587778548
NM_000267.3(NF1):c.1554C>A (p.Thr518=) rs876660849
NM_000267.3(NF1):c.1572delA (p.Glu524Aspfs) rs1085307461
NM_000267.3(NF1):c.1627C>T (p.Gln543Ter) rs894292181
NM_000267.3(NF1):c.1647G>T (p.Leu549=) rs774627695
NM_000267.3(NF1):c.1652T>C (p.Val551Ala) rs113867817
NM_000267.3(NF1):c.1661A>G (p.Gln554Arg) rs863224656
NM_000267.3(NF1):c.169G>A (p.Gly57Ser) rs779727341
NM_000267.3(NF1):c.1710T>C (p.Phe570=) rs1462741584
NM_000267.3(NF1):c.1721+3A>G rs1057518904
NM_000267.3(NF1):c.1721G>A (p.Ser574Asn) rs1555613206
NM_000267.3(NF1):c.1722-5T>C rs1458980212
NM_000267.3(NF1):c.1733T>C (p.Leu578Pro) rs199474774
NM_000267.3(NF1):c.1737T>C (p.Phe579=) rs1555613411
NM_000267.3(NF1):c.1764T>C (p.His588=) rs1229784876
NM_000267.3(NF1):c.178A>G (p.Thr60Ala) rs546729596
NM_000267.3(NF1):c.1796G>A (p.Trp599Ter) rs1131691130
NM_000267.3(NF1):c.179C>G (p.Thr60Ser) rs1007047958
NM_000267.3(NF1):c.1811T>A (p.Leu604Ter) rs1555613427
NM_000267.3(NF1):c.181A>G (p.Ile61Val) rs754295034
NM_000267.3(NF1):c.1846-3T>C rs1555613541
NM_000267.3(NF1):c.1849G>A (p.Ala617Thr) rs1131691135
NM_000267.3(NF1):c.1866T>C (p.Cys622=) rs753245823
NM_000267.3(NF1):c.1869C>T (p.His623=) rs1555613556
NM_000267.3(NF1):c.1900A>G (p.Ile634Val) rs745906742
NM_000267.3(NF1):c.1907C>G (p.Ser636Cys) rs780412565
NM_000267.3(NF1):c.1910G>C (p.Ser637Thr) rs749745247
NM_000267.3(NF1):c.1919C>G (p.Thr640Ser) rs1555613573
NM_000267.3(NF1):c.191delA (p.Asn64Metfs) rs1555604941
NM_000267.3(NF1):c.1923T>A (p.Ser641Arg) rs1555613576
NM_000267.3(NF1):c.1939C>T (p.His647Tyr) rs776251084
NM_000267.3(NF1):c.1944A>G (p.Glu648=) rs1465016257
NM_000267.3(NF1):c.1951C>T (p.Leu651=) rs1555613590
NM_000267.3(NF1):c.1953A>G (p.Leu651=) rs1298717179
NM_000267.3(NF1):c.1962T>G (p.Pro654=) rs1555613595
NM_000267.3(NF1):c.1964G>C (p.Gly655Ala) rs1555613596
NM_000267.3(NF1):c.1994C>T (p.Ser665Phe) rs145891889
NM_000267.3(NF1):c.2002-2A>C rs1555613741
NM_000267.3(NF1):c.2002-5C>G rs1165625614
NM_000267.3(NF1):c.2012C>G (p.Ala671Gly) rs760900648
NM_000267.3(NF1):c.2028C>G (p.Thr676=) rs878853873
NM_000267.3(NF1):c.2033C>T (p.Pro678Leu) rs17881753
NM_000267.3(NF1):c.204+4A>G rs1555604946
NM_000267.3(NF1):c.2041C>T (p.Arg681Ter) rs768638173
NM_000267.3(NF1):c.2045A>C (p.Gln682Pro) rs1304889984
NM_000267.3(NF1):c.2061A>G (p.Leu687=) rs143671377
NM_000267.3(NF1):c.2065G>A (p.Val689Met) rs771784652
NM_000267.3(NF1):c.2075A>T (p.Tyr692Phe) rs1555613792
NM_000267.3(NF1):c.2077A>G (p.Met693Val) rs1555613794
NM_000267.3(NF1):c.2085G>A (p.Leu695=) rs1060503889
NM_000267.3(NF1):c.2094T>C (p.Pro698=) rs1555613798
NM_000267.3(NF1):c.2098A>G (p.Thr700Ala) rs1555613801
NM_000267.3(NF1):c.2131C>T (p.Arg711Cys) rs1400902839
NM_000267.3(NF1):c.2136_2142delCCTCTGT (p.His712Glnfs) rs1555613811
NM_000267.3(NF1):c.2142T>C (p.Cys714=) rs141382637
NM_000267.3(NF1):c.2160G>T (p.Arg720=) rs765339408
NM_000267.3(NF1):c.2189A>C (p.Asn730Thr) rs778033578
NM_000267.3(NF1):c.221C>T (p.Ala74Val) rs199474726
NM_000267.3(NF1):c.2232C>G (p.Val744=) rs748865537
NM_000267.3(NF1):c.2235C>T (p.Ser745=) rs1060503901
NM_000267.3(NF1):c.2239A>G (p.Met747Val) rs1471232737
NM_000267.3(NF1):c.2278A>T (p.Met760Leu) rs1191883088
NM_000267.3(NF1):c.2282C>T (p.Ala761Val) rs746850653
NM_000267.3(NF1):c.2284C>T (p.Leu762=) rs370762336
NM_000267.3(NF1):c.2288T>G (p.Leu763Arg) rs199474762
NM_000267.3(NF1):c.2294G>A (p.Arg765His) rs199474777
NM_000267.3(NF1):c.2312C>T (p.Ala771Val) rs1555613928
NM_000267.3(NF1):c.2325+4T>C rs1555613934
NM_000267.3(NF1):c.2325G>A (p.Glu775=) rs1555613932
NM_000267.3(NF1):c.2326-2A>G rs1555613975
NM_000267.3(NF1):c.2326-5T>C rs1131691086
NM_000267.3(NF1):c.2328T>G (p.Ala776=) rs1555613978
NM_000267.3(NF1):c.2337T>G (p.Asp779Glu) rs1555613989
NM_000267.3(NF1):c.2338A>G (p.Thr780Ala) rs1205746953
NM_000267.3(NF1):c.2342A>T (p.His781Leu) rs199474763
NM_000267.3(NF1):c.2356C>A (p.Gln786Lys) rs1555613999
NM_000267.3(NF1):c.2358A>G (p.Gln786=) rs762346437
NM_000267.3(NF1):c.2374C>T (p.Leu792Phe) rs1555614005
NM_000267.3(NF1):c.2378A>C (p.Asn793Thr) rs772543826
NM_000267.3(NF1):c.2379C>T (p.Asn793=) rs1555614006
NM_000267.3(NF1):c.2385A>G (p.Pro795=) rs1555614009
NM_000267.3(NF1):c.2388dup (p.Ala797Serfs) rs1555614011
NM_000267.3(NF1):c.2390C>T (p.Ala797Val) rs1181350360
NM_000267.3(NF1):c.239A>C (p.Tyr80Ser) rs4795581
NM_000267.3(NF1):c.2405G>A (p.Gly802Asp) rs752404130
NM_000267.3(NF1):c.2409+1G>C rs1555614022
NM_000267.3(NF1):c.2409+1G>T rs1555614022
NM_000267.3(NF1):c.2409+5G>A rs763688567
NM_000267.3(NF1):c.2410G>C (p.Ala804Pro) rs761109477
NM_000267.3(NF1):c.2440A>G (p.Lys814Glu) rs1555614184
NM_000267.3(NF1):c.2441A>C (p.Lys814Thr) rs1555614185
NM_000267.3(NF1):c.2446C>T (p.Arg816Ter) rs886041347
NM_000267.3(NF1):c.2447G>A (p.Arg816Gln) rs762709897
NM_000267.3(NF1):c.244_247delTCTC (p.Gln83Terfs) rs771115661
NM_000267.3(NF1):c.2455delC (p.His819Metfs)
NM_000267.3(NF1):c.2457T>C (p.His819=) rs976466916
NM_000267.3(NF1):c.2485T>G (p.Ser829Ala) rs1555614202
NM_000267.3(NF1):c.2491A>G (p.Thr831Ala) rs1555614204
NM_000267.3(NF1):c.2495A>G (p.Asp832Gly) rs1060500283
NM_000267.3(NF1):c.249G>A (p.Gln83=) rs1555605387
NM_000267.3(NF1):c.2508A>G (p.Glu836=) rs1555614208
NM_000267.3(NF1):c.2514C>T (p.Ile838=) rs863224352
NM_000267.3(NF1):c.2541T>C (p.Leu847=) rs147433258
NM_000267.3(NF1):c.2556C>T (p.Leu852=) rs771308677
NM_000267.3(NF1):c.2570A>G (p.Asn857Ser) rs1060500299
NM_000267.3(NF1):c.2582C>A (p.Ala861Glu) rs1555614266
NM_000267.3(NF1):c.2585C>G (p.Thr862Ser) rs200302954
NM_000267.3(NF1):c.2592C>T (p.Ser864=) rs761499485
NM_000267.3(NF1):c.2618G>A (p.Arg873His) rs949092641
NM_000267.3(NF1):c.2623G>A (p.Gly875Ser) rs754734571
NM_000267.3(NF1):c.2633T>C (p.Ile878Thr) rs372049168
NM_000267.3(NF1):c.2637A>G (p.Ser879=) rs1555614288
NM_000267.3(NF1):c.2661A>C (p.Ala887=) rs1555614292
NM_000267.3(NF1):c.2661A>G (p.Ala887=) rs1555614292
NM_000267.3(NF1):c.2671G>C (p.Val891Leu) rs1060500256
NM_000267.3(NF1):c.2674delA (p.Ser892Alafs) rs1555614296
NM_000267.3(NF1):c.2689C>T (p.Arg897Trp) rs775949348
NM_000267.3(NF1):c.2728G>A (p.Gly910Arg) rs1555614314
NM_000267.3(NF1):c.2732T>A (p.Leu911His) rs1555614315
NM_000267.3(NF1):c.2741G>A (p.Arg914Gln) rs776447057
NM_000267.3(NF1):c.274A>G (p.Lys92Glu) rs1555605396
NM_000267.3(NF1):c.2769A>G (p.Leu923=) rs1450651152
NM_000267.3(NF1):c.276A>G (p.Lys92=) rs1060503900
NM_000267.3(NF1):c.2794A>T (p.Met932Leu) rs886052800
NM_000267.3(NF1):c.2806A>G (p.Lys936Glu) rs1555614345
NM_000267.3(NF1):c.2819C>G (p.Thr940Ser) rs368995630
NM_000267.3(NF1):c.2825G>C (p.Ser942Thr) rs1555614350
NM_000267.3(NF1):c.2847A>G (p.Gly949=) rs1555614361
NM_000267.3(NF1):c.2850+1G>T rs1131691122
NM_000267.3(NF1):c.2850+5A>T rs864622633
NM_000267.3(NF1):c.2856A>C (p.Leu952Phe) rs750488772
NM_000267.3(NF1):c.2867C>G (p.Thr956Ser) rs1323973848
NM_000267.3(NF1):c.2916A>C (p.Leu972=) rs1210119104
NM_000267.3(NF1):c.291A>G (p.Gln97=) rs1555606044
NM_000267.3(NF1):c.2934delC (p.Ser979Alafs) rs1555614448
NM_000267.3(NF1):c.2941G>C (p.Glu981Gln) rs1555614449
NM_000267.3(NF1):c.2949A>G (p.Leu983=) rs1555614452
NM_000267.3(NF1):c.2970_2972delAAT (p.Met992del) rs267606606
NM_000267.3(NF1):c.2971A>G (p.Met991Val) rs1268543864
NM_000267.3(NF1):c.2991-4A>G rs754414489
NM_000267.3(NF1):c.2993A>C (p.Tyr998Ser) rs1555614496
NM_000267.3(NF1):c.2998C>T (p.Arg1000Cys) rs367684252
NM_000267.3(NF1):c.2999G>A (p.Arg1000His) rs753082620
NM_000267.3(NF1):c.3000T>C (p.Arg1000=) rs764332485
NM_000267.3(NF1):c.3013A>G (p.Met1005Val) rs1555614502
NM_000267.3(NF1):c.3014T>C (p.Met1005Thr) rs1555614504
NM_000267.3(NF1):c.3030A>G (p.Gln1010=) rs1405071456
NM_000267.3(NF1):c.3037delA (p.Thr1013Argfs) rs1135402838
NM_000267.3(NF1):c.3044T>C (p.Leu1015Pro) rs1131691112
NM_000267.3(NF1):c.304A>G (p.Met102Val) rs756370324
NM_000267.3(NF1):c.3062T>G (p.Val1021Gly) rs1355411201
NM_000267.3(NF1):c.3063A>C (p.Val1021=) rs768611775
NM_000267.3(NF1):c.3074_3096dup (p.Gln1033Glyfs) rs1555614527
NM_000267.3(NF1):c.3102G>A (p.Glu1034=) rs1555614536
NM_000267.3(NF1):c.3103A>G (p.Met1035Val) rs771694969
NM_000267.3(NF1):c.3111delT (p.Phe1037Leufs) rs1131691127
NM_000267.3(NF1):c.3114-4A>T rs201550230
NM_000267.3(NF1):c.3114G>C (p.Arg1038Ser) rs1555614616
NM_000267.3(NF1):c.3133C>T (p.Leu1045=) rs1555614626
NM_000267.3(NF1):c.3145G>A (p.Val1049Ile) rs1060500343
NM_000267.3(NF1):c.3150G>A (p.Met1050Ile) rs1555614639
NM_000267.3(NF1):c.3161_3165delACCAA (p.Asn1054Serfs) rs1555614642
NM_000267.3(NF1):c.3185A>T (p.Lys1062Ile) rs1314168961
NM_000267.3(NF1):c.3197+3A>G rs1359512152
NM_000267.3(NF1):c.319delA (p.Thr107Argfs) rs1131691116
NM_000267.3(NF1):c.3200A>T (p.Asp1067Val) rs746785904
NM_000267.3(NF1):c.3204G>A (p.Leu1068=) rs1258842007
NM_000267.3(NF1):c.3218T>G (p.Met1073Arg) rs1555614827
NM_000267.3(NF1):c.3225A>G (p.Ala1075=) rs746022492
NM_000267.3(NF1):c.3242C>G (p.Ala1081Gly) rs769941435
NM_000267.3(NF1):c.3273T>A (p.Asp1091Glu) rs1131691124
NM_000267.3(NF1):c.3289G>A (p.Glu1097Lys) rs1555614865
NM_000267.3(NF1):c.3315-2A>G rs1555614914
NM_000267.3(NF1):c.3315-3C>T rs752318318
NM_000267.3(NF1):c.3330T>A (p.Phe1110Leu) rs1256152851
NM_000267.3(NF1):c.3345T>C (p.Asn1115=) rs1443772199
NM_000267.3(NF1):c.3358G>C (p.Val1120Leu) rs200594167
NM_000267.3(NF1):c.3359T>C (p.Val1120Ala) rs751571517
NM_000267.3(NF1):c.3367G>T (p.Glu1123Ter) rs1555614940
NM_000267.3(NF1):c.3371G>T (p.Ser1124Ile) rs374472758
NM_000267.3(NF1):c.3374C>T (p.Ala1125Val) rs902739109
NM_000267.3(NF1):c.3383G>C (p.Gly1128Ala) rs1060500325
NM_000267.3(NF1):c.3395G>A (p.Arg1132His) rs778920556
NM_000267.3(NF1):c.3420A>G (p.Ser1140=) rs1555614961
NM_000267.3(NF1):c.3435G>T (p.Thr1145=) rs772432150
NM_000267.3(NF1):c.3446T>G (p.Met1149Arg) rs1131691121
NM_000267.3(NF1):c.3469G>A (p.Val1157Ile) rs375845704
NM_000267.3(NF1):c.3484A>G (p.Met1162Val) rs773968270
NM_000267.3(NF1):c.348A>T (p.Glu116Asp) rs1231174547
NM_000267.3(NF1):c.3502G>C (p.Gly1168Arg) rs878853883
NM_000267.3(NF1):c.3506A>G (p.Tyr1169Cys) rs1555615014
NM_000267.3(NF1):c.3515A>G (p.Asp1172Gly) rs1555615017
NM_000267.3(NF1):c.3524C>T (p.Thr1175Ile) rs1555615024
NM_000267.3(NF1):c.3527G>T (p.Arg1176Ile) rs1227027709
NM_000267.3(NF1):c.3534A>C (p.Thr1178=) rs876658210
NM_000267.3(NF1):c.3549G>A (p.Leu1183=) rs1051842
NM_000267.3(NF1):c.356A>G (p.His119Arg) rs150080742
NM_000267.3(NF1):c.3571A>G (p.Thr1191Ala) rs1555615033
NM_000267.3(NF1):c.3582C>T (p.Asp1194=) rs1555615036
NM_000267.3(NF1):c.3694C>T (p.Pro1232Ser) rs1482085668
NM_000267.3(NF1):c.373C>G (p.Arg125Gly) rs876659418
NM_000267.3(NF1):c.3748C>T (p.Arg1250Trp) rs1452005208
NM_000267.3(NF1):c.3756A>G (p.Leu1252=) rs1298630862
NM_000267.3(NF1):c.3764A>G (p.Gln1255Arg) rs1555615453
NM_000267.3(NF1):c.3778A>G (p.Met1260Val) rs1264981144
NM_000267.3(NF1):c.3778_3782delATGTT (p.Met1260Phefs) rs1555615462
NM_000267.3(NF1):c.3779T>C (p.Met1260Thr) rs1555615463
NM_000267.3(NF1):c.3790G>A (p.Glu1264Lys) rs863224660
NM_000267.3(NF1):c.3811A>G (p.Met1271Val) rs746583007
NM_000267.3(NF1):c.3826C>T (p.Arg1276Ter) rs199474742
NM_000267.3(NF1):c.3842C>G (p.Ala1281Gly) rs1060500341
NM_000267.3(NF1):c.3870+4T>C rs1555615499
NM_000267.3(NF1):c.3875A>G (p.Tyr1292Cys) rs1060500243
NM_000267.3(NF1):c.3891A>G (p.Leu1297=) rs753036396
NM_000267.3(NF1):c.389A>G (p.His130Arg) rs876660277
NM_000267.3(NF1):c.3916C>A (p.Arg1306=) rs376576925
NM_000267.3(NF1):c.3929C>A (p.Thr1310Lys) rs1555615554
NM_000267.3(NF1):c.3939T>C (p.Asp1313=) rs864622325
NM_000267.3(NF1):c.3948dup (p.Val1317Cysfs) rs1555615559
NM_000267.3(NF1):c.3959A>C (p.Glu1320Ala) rs1555615562
NM_000267.3(NF1):c.3960A>C (p.Glu1320Asp) rs1555615564
NM_000267.3(NF1):c.3960A>G (p.Glu1320=) rs1555615564
NM_000267.3(NF1):c.3975-2A>G rs864622431
NM_000267.3(NF1):c.4000G>A (p.Glu1334Lys) rs878853892
NM_000267.3(NF1):c.4020T>C (p.Leu1340=) rs863224354
NM_000267.3(NF1):c.4022A>T (p.Gln1341Leu) rs1555617325
NM_000267.3(NF1):c.4032A>G (p.Glu1344=) rs1555617330
NM_000267.3(NF1):c.403C>T (p.Arg135Trp) rs775191883
NM_000267.3(NF1):c.4045G>A (p.Ala1349Thr) rs1555617332
NM_000267.3(NF1):c.4046C>A (p.Ala1349Asp) rs1229215269
NM_000267.3(NF1):c.404G>A (p.Arg135Gln) rs1060500244
NM_000267.3(NF1):c.4054A>T (p.Ser1352Cys) rs1337343400
NM_000267.3(NF1):c.4058C>T (p.Ser1353Phe) rs1555617346
NM_000267.3(NF1):c.4072C>G (p.Pro1358Ala) rs1555617359
NM_000267.3(NF1):c.4074_4075delCCinsAA (p.Pro1359Thr) rs1555617362
NM_000267.3(NF1):c.4078C>T (p.Gln1360Ter) rs1555617368
NM_000267.3(NF1):c.4084C>T (p.Arg1362Ter) rs137854560
NM_000267.3(NF1):c.4085G>A (p.Arg1362Gln) rs540108477
NM_000267.3(NF1):c.4097A>G (p.His1366Arg) rs769042915
NM_000267.3(NF1):c.4097A>T (p.His1366Leu) rs769042915
NM_000267.3(NF1):c.4110+1G>A rs1555617383
NM_000267.3(NF1):c.4110+3A>C rs774669878
NM_000267.3(NF1):c.4110G>A (p.Gln1370=) rs1135402854
NM_000267.3(NF1):c.4111-2A>G rs1555618489
NM_000267.3(NF1):c.4122G>T (p.Gln1374His) rs775206746
NM_000267.3(NF1):c.4123C>T (p.Arg1375Cys) rs1555618495
NM_000267.3(NF1):c.4124G>A (p.Arg1375His) rs368685980
NM_000267.3(NF1):c.4127T>A (p.Phe1376Tyr) rs768223279
NM_000267.3(NF1):c.4128C>A (p.Phe1376Leu) rs1555618498
NM_000267.3(NF1):c.4143C>T (p.Ile1381=) rs864622406
NM_000267.3(NF1):c.415T>C (p.Ser139Pro) rs1555606096
NM_000267.3(NF1):c.4163T>C (p.Met1388Thr) rs1555618508
NM_000267.3(NF1):c.4164G>A (p.Met1388Ile) rs786201895
NM_000267.3(NF1):c.4184C>T (p.Pro1395Leu) rs1555618521
NM_000267.3(NF1):c.4199C>A (p.Pro1400Gln) rs753997885
NM_000267.3(NF1):c.4199C>G (p.Pro1400Arg) rs753997885
NM_000267.3(NF1):c.4199C>T (p.Pro1400Leu) rs753997885
NM_000267.3(NF1):c.4200delG (p.Tyr1401Metfs) rs1555618542
NM_000267.3(NF1):c.4202A>G (p.Tyr1401Cys) rs1555618544
NM_000267.3(NF1):c.4212G>A (p.Gly1404=) rs1555618548
NM_000267.3(NF1):c.4214T>C (p.Ile1405Thr) rs1555618549
NM_000267.3(NF1):c.421delG (p.Val141Phefs) rs1131691119
NM_000267.3(NF1):c.4227G>A (p.Lys1409=) rs373086572
NM_000267.3(NF1):c.4249G>A (p.Gly1417Ser) rs1555618559
NM_000267.3(NF1):c.4252T>A (p.Leu1418Met) rs1555618562
NM_000267.3(NF1):c.4267A>G (p.Lys1423Glu) rs137854550
NM_000267.3(NF1):c.4269G>C (p.Lys1423Asn) rs199474750
NM_000267.3(NF1):c.4273C>T (p.Leu1425Phe) rs1555618639
NM_000267.3(NF1):c.4276C>A (p.Gln1426Lys) rs1135402857
NM_000267.3(NF1):c.4287C>T (p.Ala1429=) rs752055412
NM_000267.3(NF1):c.4294G>T (p.Val1432Phe) rs199474755
NM_000267.3(NF1):c.4297C>G (p.Leu1433Val) rs1408832954
NM_000267.3(NF1):c.4299C>T (p.Leu1433=) rs864622298
NM_000267.3(NF1):c.4307A>G (p.Lys1436Arg) rs1555618656
NM_000267.3(NF1):c.4337T>G (p.Phe1446Cys) rs1555618685
NM_000267.3(NF1):c.434T>A (p.Leu145His) rs199474734
NM_000267.3(NF1):c.4364G>A (p.Arg1455His) rs1555618691
NM_000267.3(NF1):c.4371T>C (p.Phe1457=) rs1310523976
NM_000267.3(NF1):c.4382T>C (p.Ile1461Thr) rs746994734
NM_000267.3(NF1):c.4392T>C (p.Asp1464=) rs186556778
NM_000267.3(NF1):c.439T>C (p.Cys147Arg) rs1555606104
NM_000267.3(NF1):c.4428C>T (p.Ser1476=) rs1555618826
NM_000267.3(NF1):c.4432A>C (p.Ile1478Leu) rs764654925
NM_000267.3(NF1):c.4436G>C (p.Ser1479Thr) rs1555618829
NM_000267.3(NF1):c.4439A>G (p.Asp1480Gly) rs1555618835
NM_000267.3(NF1):c.4444A>C (p.Asn1482His) rs1555618837
NM_000267.3(NF1):c.4447G>A (p.Val1483Met) rs1555618839
NM_000267.3(NF1):c.4457T>C (p.Leu1486Ser) rs1135402863
NM_000267.3(NF1):c.4473G>C (p.Trp1491Cys) rs878853897
NM_000267.3(NF1):c.4495C>T (p.Gln1499Ter) rs1060500242
NM_000267.3(NF1):c.4514+3A>G rs1060500246
NM_000267.3(NF1):c.4514+4A>G rs1555618863
NM_000267.3(NF1):c.4537C>T (p.Arg1513Ter) rs760703505
NM_000267.3(NF1):c.4538G>A (p.Arg1513Gln) rs867955218
NM_000267.3(NF1):c.456A>C (p.Ala152=) rs377481833
NM_000267.3(NF1):c.4570T>C (p.Tyr1524His) rs1555619019
NM_000267.3(NF1):c.4594C>G (p.Pro1532Ala) rs1033427343
NM_000267.3(NF1):c.4594C>T (p.Pro1532Ser) rs1033427343
NM_000267.3(NF1):c.4605T>C (p.Asp1535=) rs763874870
NM_000267.3(NF1):c.4607C>T (p.Thr1536Ile) rs876660065
NM_000267.3(NF1):c.4619G>A (p.Ser1540Asn) rs751414513
NM_000267.3(NF1):c.4641G>A (p.Lys1547=) rs1424931932
NM_000267.3(NF1):c.464G>A (p.Ser155Asn) rs1555606113
NM_000267.3(NF1):c.4659T>G (p.Thr1553=) rs1555619054
NM_000267.3(NF1):c.4661+3A>G rs781147524
NM_000267.3(NF1):c.466C>T (p.Arg156Cys) rs755890242
NM_000267.3(NF1):c.4689C>T (p.Phe1563=) rs876657545
NM_000267.3(NF1):c.4693G>T (p.Ala1565Ser) rs767438491
NM_000267.3(NF1):c.469A>G (p.Ile157Val) rs1555606118
NM_000267.3(NF1):c.4703C>T (p.Thr1568Met) rs185660700
NM_000267.3(NF1):c.4713T>A (p.Ile1571=) rs1346039502
NM_000267.3(NF1):c.4728G>A (p.Gly1576=) rs1412795566
NM_000267.3(NF1):c.4728G>T (p.Gly1576=) rs1412795566
NM_000267.3(NF1):c.4733C>G (p.Ser1578Cys) rs1555619407
NM_000267.3(NF1):c.4737A>G (p.Lys1579=) rs1555619409
NM_000267.3(NF1):c.4738G>A (p.Ala1580Thr) rs754651519
NM_000267.3(NF1):c.4741G>A (p.Gly1581Arg) rs878853898
NM_000267.3(NF1):c.4758T>C (p.Tyr1586=) rs1555619416
NM_000267.3(NF1):c.4771A>C (p.Arg1591=) rs755137259
NM_000267.3(NF1):c.4772G>A (p.Arg1591Lys) rs1555619423
NM_000267.3(NF1):c.4773G>A (p.Arg1591=) rs1555533268
NM_000267.3(NF1):c.4773G>T (p.Arg1591Ser) rs1555533268
NM_000267.3(NF1):c.4793A>G (p.Asn1598Ser) rs1466167635
NM_000267.3(NF1):c.4797T>C (p.Gly1599=) rs864622747
NM_000267.3(NF1):c.479G>A (p.Arg160Lys) rs199474752
NM_000267.3(NF1):c.4807A>G (p.Ile1603Val) rs1555533280
NM_000267.3(NF1):c.4824G>A (p.Leu1608=) rs368638966
NM_000267.3(NF1):c.484C>G (p.Gln162Glu) rs1555607073
NM_000267.3(NF1):c.484C>T (p.Gln162Ter) rs1555607073
NM_000267.3(NF1):c.4862T>A (p.Val1621Glu) rs1555533301
NM_000267.3(NF1):c.4867G>T (p.Asp1623Tyr) rs1131691123
NM_000267.3(NF1):c.486G>A (p.Gln162=) rs1555607076
NM_000267.3(NF1):c.4875C>T (p.Thr1625=) rs1555533306
NM_000267.3(NF1):c.4890C>T (p.Ser1630=) rs941643920
NM_000267.3(NF1):c.4914C>G (p.Leu1638=) rs863224355
NM_000267.3(NF1):c.4914_4917delCTCT (p.Lys1640Glyfs) rs1085307459
NM_000267.3(NF1):c.4940G>T (p.Gly1647Val) rs1555533332
NM_000267.3(NF1):c.494C>G (p.Thr165Ser) rs876660009
NM_000267.3(NF1):c.4951G>A (p.Asp1651Asn) rs1483541195
NM_000267.3(NF1):c.4955A>G (p.Asn1652Ser) rs1201910133
NM_000267.3(NF1):c.4957G>A (p.Val1653Ile) rs1555533342
NM_000267.3(NF1):c.4963G>T (p.Ala1655Ser) rs756450772
NM_000267.3(NF1):c.4972A>G (p.Ile1658Val) rs147327414
NM_000267.3(NF1):c.4976A>G (p.Tyr1659Cys) rs758361270
NM_000267.3(NF1):c.4995C>T (p.Val1665=) rs1315128684
NM_000267.3(NF1):c.5016T>G (p.His1672Gln) rs1555533365
NM_000267.3(NF1):c.5052G>C (p.Arg1684Ser) rs749669269
NM_000267.3(NF1):c.5062A>G (p.Ile1688Val) rs774720054
NM_000267.3(NF1):c.5092A>G (p.Ile1698Val) rs1434439252
NM_000267.3(NF1):c.5106A>G (p.Gln1702=) rs864622372
NM_000267.3(NF1):c.5112A>G (p.Lys1704=) rs1372069749
NM_000267.3(NF1):c.5158C>A (p.His1720Asn) rs780529277
NM_000267.3(NF1):c.5159A>T (p.His1720Leu) rs1555533402
NM_000267.3(NF1):c.5162A>G (p.Asn1721Ser) rs745407845
NM_000267.3(NF1):c.5175A>G (p.Leu1725=) rs779689556
NM_000267.3(NF1):c.5192A>G (p.Lys1731Arg) rs864622373
NM_000267.3(NF1):c.5200A>G (p.Ile1734Val) rs370181275
NM_000267.3(NF1):c.5206-4C>G rs1555533547
NM_000267.3(NF1):c.520G>T (p.Val174Phe) rs1555607084
NM_000267.3(NF1):c.5217T>C (p.Thr1739=) rs779104728
NM_000267.3(NF1):c.5230A>G (p.Thr1744Ala) rs747584987
NM_000267.3(NF1):c.5236G>A (p.Ala1746Thr) rs529905904
NM_000267.3(NF1):c.5242C>T (p.Arg1748Ter) rs876657714
NM_000267.3(NF1):c.5243G>A (p.Arg1748Gln) rs1555533559
NM_000267.3(NF1):c.5259G>A (p.Gly1753=) rs201584313
NM_000267.3(NF1):c.525T>C (p.His175=) rs750358089
NM_000267.3(NF1):c.5264delC (p.Ser1755Terfs) rs1131691128
NM_000267.3(NF1):c.5281A>G (p.Ile1761Val) rs1160436761
NM_000267.3(NF1):c.5288A>T (p.Tyr1763Phe) rs1060500280
NM_000267.3(NF1):c.528T>A (p.Asp176Glu) rs112306990
NM_000267.3(NF1):c.5295G>A (p.Ser1765=) rs373313111
NM_000267.3(NF1):c.5302G>C (p.Glu1768Gln) rs1555533571
NM_000267.3(NF1):c.5303A>G (p.Glu1768Gly) rs1555533573
NM_000267.3(NF1):c.5317G>A (p.Val1773Ile) rs1555533574
NM_000267.3(NF1):c.5360C>A (p.Thr1787Lys) rs760649828
NM_000267.3(NF1):c.5373C>T (p.Phe1791=) rs864622640
NM_000267.3(NF1):c.5377C>T (p.His1793Tyr) rs1036523228
NM_000267.3(NF1):c.5379C>T (p.His1793=) rs991848606
NM_000267.3(NF1):c.537G>A (p.Leu179=) rs1555607095
NM_000267.3(NF1):c.5387G>T (p.Cys1796Phe) rs1555533589
NM_000267.3(NF1):c.5402A>C (p.Gln1801Pro) rs1060500328
NM_000267.3(NF1):c.5404T>C (p.Ser1802Pro) rs1555533592
NM_000267.3(NF1):c.5407A>G (p.Ile1803Val) rs370858405
NM_000267.3(NF1):c.5409C>A (p.Ile1803=) rs758784558
NM_000267.3(NF1):c.5419C>T (p.Arg1807Trp) rs1555533609
NM_000267.3(NF1):c.5426G>T (p.Arg1809Leu) rs771529172
NM_000267.3(NF1):c.5433A>G (p.Glu1811=) rs1555533613
NM_000267.3(NF1):c.5434C>T (p.Leu1812=) rs372932380
NM_000267.3(NF1):c.5442G>A (p.Gln1814=) rs1555533615
NM_000267.3(NF1):c.5451_5454delTATC (p.Ile1818Profs) rs1555533621
NM_000267.3(NF1):c.5477C>G (p.Pro1826Arg) rs1555533631
NM_000267.3(NF1):c.5484T>C (p.Asp1828=) rs1555533634
NM_000267.3(NF1):c.5490T>C (p.Pro1830=) rs974310759
NM_000267.3(NF1):c.5508C>T (p.Ile1836=) rs771837192
NM_000267.3(NF1):c.5511A>G (p.Ala1837=) rs760561904
NM_000267.3(NF1):c.5519A>G (p.Asn1840Ser) rs1555533647
NM_000267.3(NF1):c.5531_5532delCT (p.Ser1844Terfs) rs1555533650
NM_000267.3(NF1):c.5546+1G>A rs1131691117
NM_000267.3(NF1):c.5579C>T (p.Thr1860Ile) rs876658349
NM_000267.3(NF1):c.5642C>T (p.Ala1881Val) rs1465309384
NM_000267.3(NF1):c.5652C>T (p.Thr1884=) rs1060503892
NM_000267.3(NF1):c.5658T>A (p.Phe1886Leu) rs1555533868
NM_000267.3(NF1):c.5666C>G (p.Ser1889Cys) rs751904277
NM_000267.3(NF1):c.5679A>T (p.Thr1893=) rs1555533874
NM_000267.3(NF1):c.5681T>C (p.Leu1894Pro) rs1555533875
NM_000267.3(NF1):c.5691T>C (p.Asn1897=) rs1555533879
NM_000267.3(NF1):c.5749+332A>G rs863224491
NM_000267.3(NF1):c.5749A>G (p.Ser1917Gly) rs1555533885
NM_000267.3(NF1):c.574C>T (p.Arg192Ter) rs397514641
NM_000267.3(NF1):c.5750-5delT rs775451791
NM_000267.3(NF1):c.5763A>G (p.Lys1921=) rs111842743
NM_000267.3(NF1):c.5794C>T (p.Leu1932=) rs1555534394
NM_000267.3(NF1):c.5803C>A (p.Leu1935Ile) rs747678243
NM_000267.3(NF1):c.5824_5826delAAT (p.Asn1942del) rs1555534403
NM_000267.3(NF1):c.5839C>T (p.Arg1947Ter) rs137854552
NM_000267.3(NF1):c.5844_5845delAA (p.Arg1949Serfs) rs863224835
NM_000267.3(NF1):c.5847A>G (p.Arg1949=) rs777021090
NM_000267.3(NF1):c.587-3C>G rs375188075
NM_000267.3(NF1):c.587-3C>T rs375188075
NM_000267.3(NF1):c.5874A>G (p.Ile1958Met) rs1555534418
NM_000267.3(NF1):c.5877A>G (p.Thr1959=) rs1555534422
NM_000267.3(NF1):c.5878A>G (p.Met1960Val) rs762935987
NM_000267.3(NF1):c.5883C>T (p.Thr1961=) rs1555534423
NM_000267.3(NF1):c.5888A>G (p.Asn1963Ser) rs764291252
NM_000267.3(NF1):c.5892A>G (p.Glu1964=) rs369043956
NM_000267.3(NF1):c.5895A>G (p.Lys1965=) rs1216926117
NM_000267.3(NF1):c.5898G>C (p.Gln1966His) rs757536610
NM_000267.3(NF1):c.5935C>G (p.Leu1979Val) rs1555534429
NM_000267.3(NF1):c.5943+4T>C rs754909198
NM_000267.3(NF1):c.5943+5_5943+25del21 rs1555534435
NM_000267.3(NF1):c.5944-1G>C rs1555534596
NM_000267.3(NF1):c.5944-5A>G rs267606604
NM_000267.3(NF1):c.5949A>G (p.Thr1983=) rs1232336416
NM_000267.3(NF1):c.594A>T (p.Ala198=) rs138411879
NM_000267.3(NF1):c.60+5C>G rs879413062
NM_000267.3(NF1):c.6002G>T (p.Gly2001Val) rs1555534606
NM_000267.3(NF1):c.6019G>A (p.Ala2007Thr) rs767869530
NM_000267.3(NF1):c.6053C>T (p.Ala2018Val) rs1555534614
NM_000267.3(NF1):c.6058G>A (p.Gly2020Arg) rs1555534616
NM_000267.3(NF1):c.6073dup (p.Val2025Glyfs) rs1555534618
NM_000267.3(NF1):c.607G>T (p.Ala203Ser) rs904361724
NM_000267.3(NF1):c.6084+1G>A rs1060500296
NM_000267.3(NF1):c.6095G>A (p.Arg2032Lys) rs1060500289
NM_000267.3(NF1):c.6099G>A (p.Met2033Ile) rs876660651
NM_000267.3(NF1):c.61-2A>G rs1131691100
NM_000267.3(NF1):c.6103A>C (p.Lys2035Gln) rs1555534667
NM_000267.3(NF1):c.6122G>C (p.Cys2041Ser) rs1555534668
NM_000267.3(NF1):c.6126A>G (p.Leu2042=) rs1060503911
NM_000267.3(NF1):c.612A>G (p.Leu204=) rs1555608658
NM_000267.3(NF1):c.6138T>C (p.Pro2046=) rs1555534671
NM_000267.3(NF1):c.614A>G (p.Lys205Arg) rs1555608659
NM_000267.3(NF1):c.6157dup (p.Met2053Asnfs) rs1555534673
NM_000267.3(NF1):c.6167A>T (p.Asp2056Val) rs1555534684
NM_000267.3(NF1):c.6201G>C (p.Leu2067=) rs762751192
NM_000267.3(NF1):c.6216C>T (p.Ser2072=) rs1055695069
NM_000267.3(NF1):c.6239C>G (p.Pro2080Arg) rs756746198
NM_000267.3(NF1):c.6244delC (p.Leu2082Serfs) rs1131691125
NM_000267.3(NF1):c.624G>A (p.Ala208=) rs370184932
NM_000267.3(NF1):c.6253G>A (p.Val2085Ile) rs755791578
NM_000267.3(NF1):c.6265T>C (p.Leu2089=) rs780230966
NM_000267.3(NF1):c.6271delG (p.Ala2091Profs) rs1555534735
NM_000267.3(NF1):c.627G>A (p.Gln209=) rs1060503919
NM_000267.3(NF1):c.6281C>G (p.Pro2094Arg) rs867091831
NM_000267.3(NF1):c.6282G>T (p.Pro2094=) rs779475182
NM_000267.3(NF1):c.6285C>G (p.Leu2095=) rs748725395
NM_000267.3(NF1):c.628T>C (p.Leu210=) rs757812365
NM_000267.3(NF1):c.6300C>T (p.Ser2100=) rs1555534749
NM_000267.3(NF1):c.6302C>T (p.Thr2101Ile) rs878853907
NM_000267.3(NF1):c.6315C>T (p.Val2105=) rs760941036
NM_000267.3(NF1):c.631G>A (p.Ala211Thr) rs781519491
NM_000267.3(NF1):c.632C>T (p.Ala211Val) rs1555608675
NM_000267.3(NF1):c.6333T>G (p.Ser2111=) rs1555534764
NM_000267.3(NF1):c.6336G>A (p.Leu2112=) rs1448544243
NM_000267.3(NF1):c.6340A>C (p.Thr2114Pro) rs1555534767
NM_000267.3(NF1):c.6364+5G>A rs1060500311
NM_000267.3(NF1):c.6472C>T (p.Arg2158Cys) rs878853908
NM_000267.3(NF1):c.6477C>T (p.Ser2159=) rs1555534868
NM_000267.3(NF1):c.6486G>A (p.Arg2162=) rs1028183407
NM_000267.3(NF1):c.6486G>T (p.Arg2162=) rs1028183407
NM_000267.3(NF1):c.6500C>T (p.Ser2167Phe) rs1555534877
NM_000267.3(NF1):c.6528T>C (p.Phe2176=) rs1298866989
NM_000267.3(NF1):c.6529G>A (p.Ala2177Thr) rs1555534882
NM_000267.3(NF1):c.653dup (p.Ala219Glyfs) rs1131691094
NM_000267.3(NF1):c.6549A>G (p.Thr2183=) rs1555534883
NM_000267.3(NF1):c.655-3T>C rs746584147
NM_000267.3(NF1):c.656C>G (p.Ala219Gly) rs1160353919
NM_000267.3(NF1):c.656C>T (p.Ala219Val) rs1160353919
NM_000267.3(NF1):c.6574A>G (p.Met2192Val) rs864622330
NM_000267.3(NF1):c.6579+3A>G rs1555534891
NM_000267.3(NF1):c.6580-4T>C rs1555534908
NM_000267.3(NF1):c.6604T>C (p.Cys2202Arg) rs1192120725
NM_000267.3(NF1):c.6622T>C (p.Trp2208Arg) rs1060500342
NM_000267.3(NF1):c.6628G>A (p.Glu2210Lys) rs1024484381
NM_000267.3(NF1):c.662G>A (p.Trp221Ter) rs1131691126
NM_000267.3(NF1):c.663G>A (p.Trp221Ter) rs1555608737
NM_000267.3(NF1):c.6641+1G>A rs1060500376
NM_000267.3(NF1):c.6641+4T>C rs1555534930
NM_000267.3(NF1):c.6642-3C>A rs1131691079
NM_000267.3(NF1):c.6650T>C (p.Phe2217Ser) rs1555534947
NM_000267.3(NF1):c.6687T>C (p.Val2229=) rs762075320
NM_000267.3(NF1):c.669G>A (p.Trp223Ter) rs1057517967
NM_000267.3(NF1):c.6709C>A (p.Arg2237=) rs876658541
NM_000267.3(NF1):c.6719A>G (p.His2240Arg) rs201336602
NM_000267.3(NF1):c.6721G>T (p.Gly2241Trp) rs1392981001
NM_000267.3(NF1):c.6727A>T (p.Ile2243Leu) rs761213794
NM_000267.3(NF1):c.6737T>C (p.Ile2246Thr) rs1555534957
NM_000267.3(NF1):c.6742C>T (p.Arg2248Cys) rs1555534961
NM_000267.3(NF1):c.6753C>T (p.Ser2251=) rs864622360
NM_000267.3(NF1):c.6756+4C>T rs755135948
NM_000267.3(NF1):c.6788C>T (p.Thr2263Ile) rs747881072
NM_000267.3(NF1):c.6789_6792delTTAC (p.Tyr2264Thrfs) rs1555535032
NM_000267.3(NF1):c.6792C>G (p.Tyr2264Ter) rs772295894
NM_000267.3(NF1):c.6795_6796delCA (p.Asn2265Lysfs) rs1555535044
NM_000267.3(NF1):c.67A>G (p.Ile23Val) rs542824372
NM_000267.3(NF1):c.680A>T (p.Tyr227Phe) rs1555608742
NM_000267.3(NF1):c.681T>C (p.Tyr227=) rs745804540
NM_000267.3(NF1):c.684A>G (p.Pro228=) rs1555608746
NM_000267.3(NF1):c.6859-1G>C rs1131691115
NM_000267.3(NF1):c.6863C>T (p.Ser2288Leu) rs1555535159
NM_000267.3(NF1):c.6866C>T (p.Pro2289Leu) rs148736217
NM_000267.3(NF1):c.686A>G (p.Asp229Gly) rs1060500285
NM_000267.3(NF1):c.6882C>G (p.Leu2294=) rs751893971
NM_000267.3(NF1):c.6903G>A (p.Val2301=) rs753793900
NM_000267.3(NF1):c.6917A>T (p.Glu2306Val) rs1555535175
NM_000267.3(NF1):c.6930_6945del16 (p.Ser2311Phefs) rs1555535177
NM_000267.3(NF1):c.6943G>T (p.Ala2315Ser) rs587781428
NM_000267.3(NF1):c.6957A>G (p.Gln2319=) rs777399429
NM_000267.3(NF1):c.6963G>T (p.Leu2321=) rs371581213
NM_000267.3(NF1):c.6967A>G (p.Thr2323Ala) rs1555535189
NM_000267.3(NF1):c.6982C>T (p.Arg2328Cys) rs56013763
NM_000267.3(NF1):c.6983G>A (p.Arg2328His) rs864622065
NM_000267.3(NF1):c.6983G>T (p.Arg2328Leu) rs864622065
NM_000267.3(NF1):c.6992A>G (p.Asn2331Ser) rs763082717
NM_000267.3(NF1):c.6996C>T (p.Asp2332=) rs1555535200
NM_000267.3(NF1):c.6999+1G>A rs863224492
NM_000267.3(NF1):c.6999G>A (p.Lys2333=) rs184142864
NM_000267.3(NF1):c.69A>G (p.Ile23Met) rs1555604870
NM_000267.3(NF1):c.7000-1G>T rs1131691114
NM_000267.3(NF1):c.7002T>G (p.Ser2334Arg)
NM_000267.3(NF1):c.7023A>C (p.Ala2341=) rs1241296625
NM_000267.3(NF1):c.702_703delGTinsAC (p.Tyr235His) rs1555608753
NM_000267.3(NF1):c.7032T>C (p.Asn2344=) rs981246691
NM_000267.3(NF1):c.703T>C (p.Tyr235His) rs864622465
NM_000267.3(NF1):c.7047C>T (p.His2349=) rs201881479
NM_000267.3(NF1):c.7085A>G (p.Asn2362Ser) rs146296921
NM_000267.3(NF1):c.7096_7101delAACTTT (p.Asn2366_Phe2367del) rs864622639
NM_000267.3(NF1):c.7117C>A (p.Leu2373Ile) rs1555535452
NM_000267.3(NF1):c.7126+4A>C rs756834212
NM_000267.3(NF1):c.7127-5T>G rs748245325
NM_000267.3(NF1):c.7128G>A (p.Gly2376=) rs773474652
NM_000267.3(NF1):c.7132A>C (p.Arg2378=) rs1555536016
NM_000267.3(NF1):c.7134G>A (p.Arg2378=) rs1555536017
NM_000267.3(NF1):c.7148C>T (p.Ala2383Val) rs771706364
NM_000267.3(NF1):c.7162A>G (p.Thr2388Ala) rs1555536021
NM_000267.3(NF1):c.7167C>T (p.Val2389=) rs1555536022
NM_000267.3(NF1):c.7199A>G (p.Asn2400Ser) rs774339063
NM_000267.3(NF1):c.7212T>C (p.Asn2404=) rs1060503904
NM_000267.3(NF1):c.7213T>G (p.Cys2405Gly) rs767059035
NM_000267.3(NF1):c.7240A>G (p.Ser2414Gly) rs1555536038
NM_000267.3(NF1):c.724A>G (p.Met242Val) rs1555608762
NM_000267.3(NF1):c.7259delC (p.Ala2420Valfs) rs1131691113
NM_000267.3(NF1):c.725T>C (p.Met242Thr) rs1555608765
NM_000267.3(NF1):c.7269A>G (p.Thr2423=) rs759005886
NM_000267.3(NF1):c.7286G>A (p.Arg2429Gln) rs533110479
NM_000267.3(NF1):c.7291C>T (p.Arg2431Cys) rs377662483
NM_000267.3(NF1):c.7292G>A (p.Arg2431His) rs1555536122
NM_000267.3(NF1):c.7305A>C (p.Lys2435Asn) rs201287021
NM_000267.3(NF1):c.7306C>T (p.His2436Tyr) rs768404575
NM_000267.3(NF1):c.7307A>G (p.His2436Arg) rs863224664
NM_000267.3(NF1):c.7310G>A (p.Arg2437Lys) rs1555536130
NM_000267.3(NF1):c.7331A>G (p.Asp2444Gly) rs143474365
NM_000267.3(NF1):c.7333A>G (p.Ile2445Val) rs748027595
NM_000267.3(NF1):c.7337C>T (p.Ser2446Leu) rs1555536135
NM_000267.3(NF1):c.7339A>G (p.Met2447Val) rs151211377
NM_000267.3(NF1):c.7343A>T (p.Glu2448Val) rs1281096294
NM_000267.3(NF1):c.7359dup (p.Thr2454Tyrfs) rs1131691107
NM_000267.3(NF1):c.7361C>T (p.Thr2454Ile) rs770532573
NM_000267.3(NF1):c.7363T>C (p.Tyr2455His) rs864622745
NM_000267.3(NF1):c.7374T>C (p.His2458=) rs1355368926
NM_000267.3(NF1):c.7375C>T (p.His2459Tyr) rs1555536166
NM_000267.3(NF1):c.7386T>C (p.Pro2462=) rs878853916
NM_000267.3(NF1):c.7389C>A (p.Ser2463=) rs764502383
NM_000267.3(NF1):c.7403A>G (p.Lys2468Arg) rs864622249
NM_000267.3(NF1):c.7416A>G (p.Pro2472=) rs144957306
NM_000267.3(NF1):c.7427C>T (p.Pro2476Leu) rs1555536347
NM_000267.3(NF1):c.7433delG (p.Gly2478Valfs) rs1555536352
NM_000267.3(NF1):c.7446C>A (p.Tyr2482Ter) rs1555536359
NM_000267.3(NF1):c.7446C>T (p.Tyr2482=) rs1555536359
NM_000267.3(NF1):c.7447C>T (p.Leu2483Phe) rs876658333
NM_000267.3(NF1):c.7468G>C (p.Val2490Leu) rs2230850
NM_000267.3(NF1):c.7470C>T (p.Val2490=) rs760733171
NM_000267.3(NF1):c.7487G>A (p.Arg2496Gln) rs755260088
NM_000267.3(NF1):c.7532C>T (p.Ala2511Val) rs148154172
NM_000267.3(NF1):c.7543_7552+1del11 rs1131691120
NM_000267.3(NF1):c.7551T>C (p.Leu2517=) rs1555536374
NM_000267.3(NF1):c.7580T>G (p.Ile2527Arg) rs864622266
NM_000267.3(NF1):c.7612A>G (p.Met2538Val) rs779373258
NM_000267.3(NF1):c.7620A>C (p.Ser2540=) rs1555536646
NM_000267.3(NF1):c.7621G>A (p.Gly2541Arg) rs1555536647
NM_000267.3(NF1):c.7624A>G (p.Ile2542Val) rs1555536648
NM_000267.3(NF1):c.7630A>C (p.Thr2544Pro) rs786202548
NM_000267.3(NF1):c.7651G>C (p.Val2551Leu) rs1555536652
NM_000267.3(NF1):c.7699C>T (p.Gln2567Ter) rs1555536687
NM_000267.3(NF1):c.76G>A (p.Gly26Arg) rs778973022
NM_000267.3(NF1):c.7702C>T (p.Gln2568Ter) rs1555536689
NM_000267.3(NF1):c.7705C>T (p.His2569Tyr) rs1555536690
NM_000267.3(NF1):c.7707C>A (p.His2569Gln) rs1060503906
NM_000267.3(NF1):c.7707C>T (p.His2569=) rs1060503906
NM_000267.3(NF1):c.7711C>A (p.His2571Asn) rs749460130
NM_000267.3(NF1):c.7713T>A (p.His2571Gln) rs1555536692
NM_000267.3(NF1):c.7717C>T (p.Arg2573Cys) rs372787215
NM_000267.3(NF1):c.7730T>C (p.Val2577Ala) rs760531845
NM_000267.3(NF1):c.7740A>C (p.Ser2580=) rs1555536700
NM_000267.3(NF1):c.7747C>G (p.Leu2583Val) rs776602307
NM_000267.3(NF1):c.7749C>G (p.Leu2583=) rs1555536702
NM_000267.3(NF1):c.7752G>A (p.Leu2584=) rs1555536703
NM_000267.3(NF1):c.7767T>G (p.Leu2589=) rs1555536705
NM_000267.3(NF1):c.7774C>T (p.Pro2592Ser) rs138839077
NM_000267.3(NF1):c.7776G>A (p.Pro2592=) rs752218441
NM_000267.3(NF1):c.7783C>G (p.Gln2595Glu) rs1555536713
NM_000267.3(NF1):c.7804C>G (p.Leu2602Val) rs1555536721
NM_000267.3(NF1):c.7813C>G (p.Leu2605Val) rs1555536748
NM_000267.3(NF1):c.7824T>C (p.Tyr2608=) rs767860040
NM_000267.3(NF1):c.784C>T (p.Arg262Cys) rs754343223
NM_000267.3(NF1):c.7896C>A (p.Val2632=) rs1555536767
NM_000267.3(NF1):c.7900C>G (p.Pro2634Ala) rs587781791
NM_000267.3(NF1):c.7900C>T (p.Pro2634Ser) rs587781791
NM_000267.3(NF1):c.7901_7902ins11 (p.?)
NM_000267.3(NF1):c.7905T>G (p.Val2635=) rs1555536771
NM_000267.3(NF1):c.7925C>G (p.Ser2642Cys) rs786202579
NM_000267.3(NF1):c.7933A>G (p.Asn2645Asp) rs1555536888
NM_000267.3(NF1):c.7938C>T (p.Thr2646=) rs876658475
NM_000267.3(NF1):c.7963A>G (p.Asn2655Asp) rs1555536902
NM_000267.3(NF1):c.7996_7997delAG (p.Ser2666Cysfs) rs1060500387
NM_000267.3(NF1):c.8010T>G (p.His2670Gln) rs375468032
NM_000267.3(NF1):c.8032C>G (p.Gln2678Glu) rs786203443
NM_000267.3(NF1):c.8042A>T (p.Tyr2681Phe) rs201824349
NM_000267.3(NF1):c.8076G>A (p.Arg2692=) rs139527415
NM_000267.3(NF1):c.8082A>G (p.Ala2694=) rs1555537028
NM_000267.3(NF1):c.8097+4A>C rs1555537033
NM_000267.3(NF1):c.8097G>C (p.Lys2699Asn) rs1555537030
NM_000267.3(NF1):c.8139T>C (p.Phe2713=) rs764884159
NM_000267.3(NF1):c.8159C>T (p.Thr2720Met) rs144178015
NM_000267.3(NF1):c.8160G>A (p.Thr2720=) rs777755159
NM_000267.3(NF1):c.819C>T (p.Leu273=) rs765595990
NM_000267.3(NF1):c.8204T>A (p.Leu2735Gln) rs1555537241
NM_000267.3(NF1):c.8207C>T (p.Thr2736Ile) rs1555537244
NM_000267.3(NF1):c.8229T>C (p.Pro2743=) rs1555537246
NM_000267.3(NF1):c.8233C>G (p.Leu2745Val) rs749647961
NM_000267.3(NF1):c.8233C>T (p.Leu2745=) rs749647961
NM_000267.3(NF1):c.8241C>T (p.Ser2747=) rs1555537250
NM_000267.3(NF1):c.8261A>G (p.Asn2754Ser) rs772090874
NM_000267.3(NF1):c.8270T>G (p.Leu2757Arg) rs1555537253
NM_000267.3(NF1):c.8313A>C (p.Pro2771=) rs1028961967
NM_000267.3(NF1):c.8322C>T (p.Asp2774=) rs144635489
NM_000267.3(NF1):c.8323A>C (p.Lys2775Gln) rs1383658117
NM_000267.3(NF1):c.8326_8328delGAG (p.Glu2776del) rs1555538511
NM_000267.3(NF1):c.8328dup (p.Asn2777Glufs) rs1555538513
NM_000267.3(NF1):c.8330A>G (p.Asn2777Ser) rs1555538515
NM_000267.3(NF1):c.8349C>T (p.Thr2783=) rs1555538531
NM_000267.3(NF1):c.8389G>A (p.Ala2797Thr) rs771006452
NM_000267.3(NF1):c.8389G>T (p.Ala2797Ser) rs771006452
NM_000267.3(NF1):c.8393G>A (p.Ser2798Asn) rs934837854
NM_000267.3(NF1):c.8416G>A (p.Ala2806Thr) rs199878086
NM_000267.3(NF1):c.8418T>C (p.Ala2806=) rs1555538546
NM_000267.3(NF1):c.8437A>G (p.Ser2813Gly) rs764858484
NM_000267.3(NF1):c.8447_8449delAGA (p.Lys2816del) rs1555538565
NM_000267.3(NF1):c.8451C>G (p.Ile2817Met)
NM_000267.3(NF1):c.8452G>C (p.Val2818Leu) rs368149035
NM_000267.3(NF1):c.847G>T (p.Asp283Tyr) rs200572531
NM_000267.3(NF1):c.848A>G (p.Asp283Gly) rs878853921
NM_000267.3(NF1):c.873A>C (p.Glu291Asp) rs754915138
NM_000267.3(NF1):c.87C>T (p.Asn29=) rs1060503914
NM_000267.3(NF1):c.884A>G (p.Asn295Ser) rs1555608994
NM_000267.3(NF1):c.885T>A (p.Asn295Lys) rs864622300
NM_000267.3(NF1):c.889-2A>G rs878853922
NM_000267.3(NF1):c.889-5delT rs1555610837
NM_000267.3(NF1):c.88A>C (p.Thr30Pro) rs1555604881
NM_000267.3(NF1):c.890A>G (p.Lys297Arg) rs1219929525
NM_000267.3(NF1):c.907C>G (p.Leu303Val) rs1555610847
NM_000267.3(NF1):c.935G>A (p.Gly312Glu) rs1555610868
NM_000267.3(NF1):c.955delA (p.Ser319Valfs) rs876660931
NM_000267.3(NF1):c.964A>G (p.Ile322Val) rs755007999
NM_000267.3(NF1):c.986A>G (p.Lys329Arg) rs1555610894
NM_000267.3(NF1):c.992G>A (p.Ser331Asn) rs1555610899
NM_001042492.2(NF1):c.*1A>C rs876658388
NM_001042492.2(NF1):c.*4T>C rs201044568
NM_001042492.2(NF1):c.1005T>C (p.Asn335=) rs777369021
NM_001042492.2(NF1):c.100G>A (p.Val34Ile) rs772995929
NM_001042492.2(NF1):c.1021G>A (p.Val341Ile) rs1555610907
NM_001042492.2(NF1):c.1023C>T (p.Val341=) rs776720136
NM_001042492.2(NF1):c.1032A>G (p.Leu344=) rs199832006
NM_001042492.2(NF1):c.1032A>T (p.Leu344=) rs199832006
NM_001042492.2(NF1):c.1063-13G>A rs1131691066
NM_001042492.2(NF1):c.1068G>A (p.Leu356=) rs1259636575
NM_001042492.2(NF1):c.1070T>G (p.Leu357Arg) rs137854563
NM_001042492.2(NF1):c.107C>G (p.Thr36Ser) rs199966218
NM_001042492.2(NF1):c.1080A>C (p.Pro360=) rs777642846
NM_001042492.2(NF1):c.1082G>C (p.Ser361Thr) rs876660103
NM_001042492.2(NF1):c.1089A>G (p.Pro363=) rs757508086
NM_001042492.2(NF1):c.108T>C (p.Thr36=) rs876660776
NM_001042492.2(NF1):c.1113A>C (p.Ala371=) rs786201652
NM_001042492.2(NF1):c.1113A>G (p.Ala371=) rs786201652
NM_001042492.2(NF1):c.1120G>A (p.Asp374Asn) rs876658666
NM_001042492.2(NF1):c.1121A>T (p.Asp374Val) rs876660856
NM_001042492.2(NF1):c.1137C>T (p.Cys379=) rs139648455
NM_001042492.2(NF1):c.1141G>A (p.Val381Ile) rs876660276
NM_001042492.2(NF1):c.1153C>T (p.Arg385Cys) rs1322986962
NM_001042492.2(NF1):c.1166A>G (p.His389Arg) rs149739570
NM_001042492.2(NF1):c.1173C>T (p.Asn391=) rs367986994
NM_001042492.2(NF1):c.1182T>C (p.Phe394=) rs786202581
NM_001042492.2(NF1):c.1186-1G>T rs876660782
NM_001042492.2(NF1):c.1188C>T (p.Ile396=) rs775109720
NM_001042492.2(NF1):c.1190G>C (p.Cys397Ser) rs786201937
NM_001042492.2(NF1):c.1213A>G (p.Thr405Ala) rs587782233
NM_001042492.2(NF1):c.1214C>T (p.Thr405Ile) rs1555611082
NM_001042492.2(NF1):c.1218delT (p.His407Thrfs) rs1131691106
NM_001042492.2(NF1):c.1223A>G (p.Tyr408Cys) rs876660344
NM_001042492.2(NF1):c.1226T>A (p.Val409Glu) rs876660378
NM_001042492.2(NF1):c.122A>C (p.Glu41Ala) rs786203038
NM_001042492.2(NF1):c.1244A>G (p.His415Arg) rs1555611097
NM_001042492.2(NF1):c.1251C>T (p.Ile417=) rs1555611103
NM_001042492.2(NF1):c.1255delA (p.Thr419Profs) rs1555611105
NM_001042492.2(NF1):c.1260+1604A>G rs1131691067
NM_001042492.2(NF1):c.1261-4C>G rs587781820
NM_001042492.2(NF1):c.1263C>T (p.Ser421=) rs767410768
NM_001042492.2(NF1):c.1264G>A (p.Ala422Thr) rs786202145
NM_001042492.2(NF1):c.1266A>G (p.Ala422=) rs1555611565
NM_001042492.2(NF1):c.1278G>A (p.Trp426Ter) rs1131691085
NM_001042492.2(NF1):c.1296G>A (p.Val432=) rs371599283
NM_001042492.2(NF1):c.1299T>A (p.Tyr433Ter) rs876660099
NM_001042492.2(NF1):c.1305C>T (p.His435=) rs786201720
NM_001042492.2(NF1):c.1308G>A (p.Ser436=) rs765425127
NM_001042492.2(NF1):c.1310T>A (p.Val437Asp) rs876658642
NM_001042492.2(NF1):c.1318C>T (p.Arg440Ter) rs778405030
NM_001042492.2(NF1):c.1330G>C (p.Gly444Arg) rs1162173842
NM_001042492.2(NF1):c.134A>G (p.Asn45Ser) rs753189381
NM_001042492.2(NF1):c.1352T>C (p.Val451Ala) rs747466938
NM_001042492.2(NF1):c.1358G>T (p.Gly453Val) rs876660915
NM_001042492.2(NF1):c.1370A>T (p.His457Leu) rs786202763
NM_001042492.2(NF1):c.1371C>A (p.His457Gln) rs1318894606
NM_001042492.2(NF1):c.1376C>A (p.Ala459Glu) rs1131691070
NM_001042492.2(NF1):c.1392+5G>A rs199999754
NM_001042492.2(NF1):c.1392+5_1392+6delGAinsTT rs587782851
NM_001042492.2(NF1):c.1392G>A (p.Pro464=) rs201604273
NM_001042492.2(NF1):c.1410A>C (p.Glu470Asp) rs786203090
NM_001042492.2(NF1):c.1439A>C (p.Lys480Thr) rs587781675
NM_001042492.2(NF1):c.1472A>G (p.Tyr491Cys) rs199474757
NM_001042492.2(NF1):c.1495C>T (p.Leu499=) rs764095472
NM_001042492.2(NF1):c.1519T>C (p.Leu507=) rs876659815
NM_001042492.2(NF1):c.1528-1G>A rs876660595
NM_001042492.2(NF1):c.1529A>G (p.Asn510Ser) rs876660091
NM_001042492.2(NF1):c.1538A>G (p.Lys513Arg) rs876659336
NM_001042492.2(NF1):c.1541A>C (p.Gln514Pro) rs775369084
NM_001042492.2(NF1):c.1541_1542delAG (p.Gln514Argfs) rs267606600
NM_001042492.2(NF1):c.1545G>A (p.Gly515=) rs876658203
NM_001042492.2(NF1):c.1548C>T (p.Pro516=) rs768883989
NM_001042492.2(NF1):c.154delT (p.Ser52Leufs) rs1131691109
NM_001042492.2(NF1):c.1550_1563del14 (p.Glu517Aspfs) rs1131691068
NM_001042492.2(NF1):c.1553C>T (p.Thr518Ile) rs587782696
NM_001042492.2(NF1):c.1554C>T (p.Thr518=) rs876660849
NM_001042492.2(NF1):c.1584delG (p.Leu529Serfs) rs876658693
NM_001042492.2(NF1):c.1587C>T (p.Leu529=) rs786203041
NM_001042492.2(NF1):c.1588G>A (p.Val530Ile) rs145191978
NM_001042492.2(NF1):c.1593A>G (p.Gln531=) rs773712266
NM_001042492.2(NF1):c.1599C>G (p.Val533=) rs369458366
NM_001042492.2(NF1):c.1609C>T (p.His537Tyr) rs786203860
NM_001042492.2(NF1):c.1620G>T (p.Glu540Asp) rs766748586
NM_001042492.2(NF1):c.1621A>G (p.Ile541Val) rs876660632
NM_001042492.2(NF1):c.162T>C (p.Val54=) rs876660899
NM_001042492.2(NF1):c.1642-4T>C rs786202197
NM_001042492.2(NF1):c.1662G>T (p.Gln554His) rs147594815
NM_001042492.2(NF1):c.168C>T (p.Ser56=) rs17881168
NM_001042492.2(NF1):c.1701A>G (p.Val567=) rs786203819
NM_001042492.2(NF1):c.1714delG (p.Glu572Argfs) rs876660135
NM_001042492.2(NF1):c.171C>T (p.Gly57=) rs876658709
NM_001042492.2(NF1):c.1721+1G>T rs1131691096
NM_001042492.2(NF1):c.1721+5A>G rs876658961
NM_001042492.2(NF1):c.1734T>C (p.Leu578=) rs876658128
NM_001042492.2(NF1):c.1740C>T (p.Tyr580=) rs786202554
NM_001042492.2(NF1):c.1756A>C (p.Thr586Pro) rs876659242
NM_001042492.2(NF1):c.1756_1759delACTA (p.Thr586Valfs) rs786202782
NM_001042492.2(NF1):c.176C>G (p.Thr59Ser) rs876659891
NM_001042492.2(NF1):c.1775G>A (p.Ser592Asn) rs760256377
NM_001042492.2(NF1):c.1801C>T (p.Arg601Trp) rs587782592
NM_001042492.2(NF1):c.1803G>T (p.Arg601=) rs786201973
NM_001042492.2(NF1):c.1806A>G (p.Glu602=) rs370454753
NM_001042492.2(NF1):c.1810T>C (p.Leu604=) rs142712751
NM_001042492.2(NF1):c.1845G>T (p.Lys615Asn) rs1131691080
NM_001042492.2(NF1):c.1855A>G (p.Arg619Gly) rs587781821
NM_001042492.2(NF1):c.1865G>A (p.Cys622Tyr) rs535869486
NM_001042492.2(NF1):c.1870T>C (p.Phe624Leu) rs765060733
NM_001042492.2(NF1):c.1884C>T (p.Tyr628=) rs555635097
NM_001042492.2(NF1):c.1885G>A (p.Gly629Arg) rs199474738
NM_001042492.2(NF1):c.1891G>A (p.Gly631Arg) rs757424379
NM_001042492.2(NF1):c.1892G>A (p.Gly631Glu) rs876660272
NM_001042492.2(NF1):c.1894T>A (p.Cys632Ser) rs370789267
NM_001042492.2(NF1):c.1901T>C (p.Ile634Thr) rs527563505
NM_001042492.2(NF1):c.1917T>C (p.Asn639=) rs876659976
NM_001042492.2(NF1):c.1920C>G (p.Thr640=) rs1555613574
NM_001042492.2(NF1):c.1921A>G (p.Ser641Gly) rs769154907
NM_001042492.2(NF1):c.1926A>G (p.Gln642=) rs774806150
NM_001042492.2(NF1):c.1933A>G (p.Met645Val) rs146051850
NM_001042492.2(NF1):c.1936G>T (p.Asp646Tyr) rs142079728
NM_001042492.2(NF1):c.1938T>C (p.Asp646=) rs876658620
NM_001042492.2(NF1):c.1954C>T (p.Arg652Cys) rs786202436
NM_001042492.2(NF1):c.1961delC (p.Pro654Leufs) rs1131691108
NM_001042492.2(NF1):c.1972C>T (p.Leu658Phe) rs763901597
NM_001042492.2(NF1):c.1974C>A (p.Leu658=) rs751318331
NM_001042492.2(NF1):c.1974C>T (p.Leu658=) rs751318331
NM_001042492.2(NF1):c.1975C>T (p.Arg659Trp) rs757512142
NM_001042492.2(NF1):c.1976G>A (p.Arg659Gln) rs151138158
NM_001042492.2(NF1):c.1987G>A (p.Gly663Arg) rs140653372
NM_001042492.2(NF1):c.1996T>C (p.Ser666Pro) rs876659281
NM_001042492.2(NF1):c.1996T>G (p.Ser666Ala) rs876659281
NM_001042492.2(NF1):c.1999A>G (p.Met667Val) rs749833271
NM_001042492.2(NF1):c.2001+3C>G rs876659863
NM_001042492.2(NF1):c.2002-4_2002-3delTC rs786203664
NM_001042492.2(NF1):c.200A>G (p.Asn67Ser) rs375038808
NM_001042492.2(NF1):c.2010A>G (p.Ala670=) rs786202440
NM_001042492.2(NF1):c.2013A>G (p.Ala671=) rs786203349
NM_001042492.2(NF1):c.2014G>A (p.Gly672Arg) rs786202632
NM_001042492.2(NF1):c.2015G>T (p.Gly672Val) rs371817372
NM_001042492.2(NF1):c.2019C>T (p.Cys673=) rs146624509
NM_001042492.2(NF1):c.2022C>T (p.Ser674=) rs2230851
NM_001042492.2(NF1):c.2023G>A (p.Gly675Arg) rs779546178
NM_001042492.2(NF1):c.2032C>A (p.Pro678Thr) rs758691069
NM_001042492.2(NF1):c.2032C>G (p.Pro678Ala) rs758691069
NM_001042492.2(NF1):c.2032C>T (p.Pro678Ser) rs758691069
NM_001042492.2(NF1):c.2033delC (p.Pro678Argfs) rs587781807
NM_001042492.2(NF1):c.2033dupC (p.Ile679Aspfs) rs587781807
NM_001042492.2(NF1):c.2034G>A (p.Pro678=) rs2285892
NM_001042492.2(NF1):c.2042G>A (p.Arg681Gln) rs786201768
NM_001042492.2(NF1):c.2054C>G (p.Thr685Ser) rs876658190
NM_001042492.2(NF1):c.2072T>C (p.Leu691Pro) rs1131691132
NM_001042492.2(NF1):c.2073G>A (p.Leu691=) rs756988894
NM_001042492.2(NF1):c.2073G>C (p.Leu691=) rs756988894
NM_001042492.2(NF1):c.2088G>A (p.Trp696Ter) rs1131691099
NM_001042492.2(NF1):c.2107G>A (p.Val703Ile) rs876659251
NM_001042492.2(NF1):c.2116G>A (p.Ala706Thr) rs876658232
NM_001042492.2(NF1):c.2125T>C (p.Cys709Arg) rs1131691095
NM_001042492.2(NF1):c.212T>C (p.Phe71Ser) rs752396270
NM_001042492.2(NF1):c.2133C>T (p.Arg711=) rs148085908
NM_001042492.2(NF1):c.2158C>T (p.Arg720Trp) rs759679443
NM_001042492.2(NF1):c.2178G>C (p.Val726=) rs369590240
NM_001042492.2(NF1):c.2178delG (p.Ser727Glnfs) rs786202954
NM_001042492.2(NF1):c.2188A>C (p.Asn730His) rs758893131
NM_001042492.2(NF1):c.2188A>T (p.Asn730Tyr) rs758893131
NM_001042492.2(NF1):c.2191C>T (p.Leu731Phe) rs185204667
NM_001042492.2(NF1):c.2221T>A (p.Phe741Ile) rs533819802
NM_001042492.2(NF1):c.2224G>T (p.Ala742Ser) rs587781896
NM_001042492.2(NF1):c.2230G>A (p.Val744Ile) rs786201833
NM_001042492.2(NF1):c.2233A>G (p.Ser745Gly) rs786201865
NM_001042492.2(NF1):c.2237delA (p.Asn746Ilefs) rs1555613838
NM_001042492.2(NF1):c.2238T>C (p.Asn746=) rs768161162
NM_001042492.2(NF1):c.2244G>A (p.Met748Ile) rs786202478
NM_001042492.2(NF1):c.2248A>G (p.Thr750Ala) rs748064845
NM_001042492.2(NF1):c.2250A>G (p.Thr750=) rs876659061
NM_001042492.2(NF1):c.2251+5A>G rs786201934
NM_001042492.2(NF1):c.2251+5A>T rs786201934
NM_001042492.2(NF1):c.2252-1G>C rs587781577
NM_001042492.2(NF1):c.2252-2A>G rs1131691105
NM_001042492.2(NF1):c.2281G>C (p.Ala761Pro) rs786202504
NM_001042492.2(NF1):c.2286G>A (p.Leu762=) rs876660624
NM_001042492.2(NF1):c.2288T>C (p.Leu763Pro) rs199474762
NM_001042492.2(NF1):c.2301G>A (p.Glu767=) rs746127097
NM_001042492.2(NF1):c.2306C>G (p.Pro769Arg) rs786203543
NM_001042492.2(NF1):c.231A>T (p.Lys77Asn) rs373563053
NM_001042492.2(NF1):c.2326-3T>G rs876658946
NM_001042492.2(NF1):c.2326-5T>A rs1131691086
NM_001042492.2(NF1):c.2329T>A (p.Trp777Arg) rs876658853
NM_001042492.2(NF1):c.2339C>A (p.Thr780Lys) rs199474746
NM_001042492.2(NF1):c.2342A>C (p.His781Pro) rs199474763
NM_001042492.2(NF1):c.2343T>G (p.His781Gln) rs774248644
NM_001042492.2(NF1):c.234T>A (p.Asn78Lys) rs876658354
NM_001042492.2(NF1):c.2355A>G (p.Glu785=) rs876658622
NM_001042492.2(NF1):c.235T>C (p.Leu79=) rs764855221
NM_001042492.2(NF1):c.2361A>G (p.Ala787=) rs371589922
NM_001042492.2(NF1):c.239A>G (p.Tyr80Cys) rs4795581
NM_001042492.2(NF1):c.2408A>G (p.Gln803Arg) rs786202976
NM_001042492.2(NF1):c.2409+2T>G rs876660826
NM_001042492.2(NF1):c.2410-1G>A rs1057518792
NM_001042492.2(NF1):c.241C>A (p.Leu81Ile) rs587782772
NM_001042492.2(NF1):c.2421C>T (p.Ser807=) rs771345891
NM_001042492.2(NF1):c.2434A>C (p.Ile812Leu) rs587781899
NM_001042492.2(NF1):c.2434A>G (p.Ile812Val) rs587781899
NM_001042492.2(NF1):c.2456A>C (p.His819Pro) rs786202297
NM_001042492.2(NF1):c.2458G>A (p.Val820Met) rs761408020
NM_001042492.2(NF1):c.2466A>C (p.Gly822=) rs1555614200
NM_001042492.2(NF1):c.2476A>C (p.Ile826Leu) rs767069721
NM_001042492.2(NF1):c.2483delT (p.Leu828Cysfs) rs1131691069
NM_001042492.2(NF1):c.2490C>T (p.Asp830=) rs786201629
NM_001042492.2(NF1):c.2509T>A (p.Trp837Arg) rs587781747
NM_001042492.2(NF1):c.2517C>T (p.Asn839=) rs876659543
NM_001042492.2(NF1):c.2530C>T (p.Leu844Phe) rs199474785
NM_001042492.2(NF1):c.2540T>C (p.Leu847Pro) rs199474747
NM_001042492.2(NF1):c.2544G>A (p.Gly848=) rs17883704
NM_001042492.2(NF1):c.2547A>C (p.Gly849=) rs748303121
NM_001042492.2(NF1):c.2550G>T (p.Val850=) rs772148227
NM_001042492.2(NF1):c.2553C>T (p.Cys851=) rs2230852
NM_001042492.2(NF1):c.2555T>G (p.Leu852Arg) rs876659440
NM_001042492.2(NF1):c.2564G>C (p.Arg855Thr) rs786203716
NM_001042492.2(NF1):c.2572T>C (p.Ser858Pro) rs587778550
NM_001042492.2(NF1):c.2573C>G (p.Ser858Cys) rs369493270
NM_001042492.2(NF1):c.2576G>C (p.Gly859Ala) rs876659829
NM_001042492.2(NF1):c.2581G>C (p.Ala861Pro) rs768425956
NM_001042492.2(NF1):c.2589T>G (p.Tyr863Ter) rs587782814
NM_001042492.2(NF1):c.2589_2592delTAGC (p.Ser864Hisfs) rs876658207
NM_001042492.2(NF1):c.2594C>T (p.Pro865Leu) rs786203084
NM_001042492.2(NF1):c.2597C>T (p.Pro866Leu) rs767159555
NM_001042492.2(NF1):c.2617C>T (p.Arg873Cys) rs199474739
NM_001042492.2(NF1):c.2619T>C (p.Arg873=) rs766212733
NM_001042492.2(NF1):c.261G>A (p.Leu87=) rs876658691
NM_001042492.2(NF1):c.2622G>A (p.Lys874=) rs77917884
NM_001042492.2(NF1):c.2622_2623insA (p.Gly875Argfs) rs587781933
NM_001042492.2(NF1):c.2629A>G (p.Met877Val) rs764950557
NM_001042492.2(NF1):c.2640G>A (p.Val880=) rs786202443
NM_001042492.2(NF1):c.2643G>A (p.Met881Ile) rs376666221
NM_001042492.2(NF1):c.2652G>A (p.Glu884=) rs757843283
NM_001042492.2(NF1):c.2658C>G (p.Asn886Lys) rs781549970
NM_001042492.2(NF1):c.2658C>T (p.Asn886=) rs781549970
NM_001042492.2(NF1):c.2668C>A (p.Pro890Thr) rs771012891
NM_001042492.2(NF1):c.2674A>T (p.Ser892Cys) rs746324091
NM_001042492.2(NF1):c.2683A>G (p.Met895Val) rs876659129
NM_001042492.2(NF1):c.2693T>C (p.Leu898Pro) rs199474786
NM_001042492.2(NF1):c.2709G>A (p.Val903=) rs771820789
NM_001042492.2(NF1):c.2712T>C (p.Cys904=) rs372963561
NM_001042492.2(NF1):c.2736A>G (p.Gln912=) rs760097413
NM_001042492.2(NF1):c.2747A>G (p.Asn916Ser) rs765043916
NM_001042492.2(NF1):c.2753delA (p.Lys918Argfs) rs1131691078
NM_001042492.2(NF1):c.2757T>C (p.Asp919=) rs1131691110
NM_001042492.2(NF1):c.2760G>T (p.Leu920=) rs1555614336
NM_001042492.2(NF1):c.2795T>C (p.Met932Thr) rs876659779
NM_001042492.2(NF1):c.2803A>C (p.Asn935His) rs786201823
NM_001042492.2(NF1):c.2821A>G (p.Ile941Val) rs876659888
NM_001042492.2(NF1):c.2829G>A (p.Lys943=) rs1555614351
NM_001042492.2(NF1):c.2838C>T (p.Asp946=) rs147188807
NM_001042492.2(NF1):c.2851-3delT rs876660379
NM_001042492.2(NF1):c.2856A>G (p.Leu952=) rs750488772
NM_001042492.2(NF1):c.2885A>G (p.Glu962Gly) rs876659474
NM_001042492.2(NF1):c.2887C>T (p.Gln963Ter) rs876660444
NM_001042492.2(NF1):c.2896G>A (p.Ala966Thr) rs876658849
NM_001042492.2(NF1):c.2899A>G (p.Ile967Val) rs876660279
NM_001042492.2(NF1):c.2902A>G (p.Met968Val) rs587781499
NM_001042492.2(NF1):c.2921A>G (p.Asn974Ser) rs557875547
NM_001042492.2(NF1):c.2931A>G (p.Glu977=) rs1555614447
NM_001042492.2(NF1):c.2952delG (p.Gln985Lysfs) rs1555614453
NM_001042492.2(NF1):c.2957C>T (p.Ala986Val) rs876659417
NM_001042492.2(NF1):c.2962A>G (p.Ile988Val) rs587781936
NM_001042492.2(NF1):c.2968A>C (p.Thr990Pro) rs876658299
NM_001042492.2(NF1):c.297G>A (p.Lys99=) rs876658428
NM_001042492.2(NF1):c.2985G>C (p.Leu995=) rs17881467
NM_001042492.2(NF1):c.2999G>T (p.Arg1000Leu) rs753082620
NM_001042492.2(NF1):c.3009G>T (p.Gly1003=) rs780895334
NM_001042492.2(NF1):c.3024A>G (p.Ala1008=) rs779490777
NM_001042492.2(NF1):c.3038C>T (p.Thr1013Met) rs786203132
NM_001042492.2(NF1):c.3039G>A (p.Thr1013=) rs876660168
NM_001042492.2(NF1):c.3051A>C (p.Gln1017His) rs201891488
NM_001042492.2(NF1):c.3070G>A (p.Ala1024Thr) rs786203657
NM_001042492.2(NF1):c.3074G>A (p.Arg1025Lys) rs876659876
NM_001042492.2(NF1):c.3097C>T (p.Gln1033Ter) rs1131691104
NM_001042492.2(NF1):c.3111T>C (p.Phe1037=) rs200240170
NM_001042492.2(NF1):c.3113+2T>G rs876658997
NM_001042492.2(NF1):c.3114-3T>C rs773097190
NM_001042492.2(NF1):c.3114-4A>G rs201550230
NM_001042492.2(NF1):c.3198-2A>G rs1131691089
NM_001042492.2(NF1):c.3198-4T>C rs587782218
NM_001042492.2(NF1):c.3198-5T>C rs587782639
NM_001042492.2(NF1):c.3208C>T (p.Gln1070Ter) rs786202023
NM_001042492.2(NF1):c.3213A>G (p.Ala1071=) rs786202077
NM_001042492.2(NF1):c.3217A>G (p.Met1073Val) rs199474740
NM_001042492.2(NF1):c.321G>A (p.Thr107=) rs786201731
NM_001042492.2(NF1):c.3237T>A (p.Leu1079=) rs876658783
NM_001042492.2(NF1):c.3246T>C (p.Gly1082=) rs876660670
NM_001042492.2(NF1):c.3258G>A (p.Gln1086=) rs876660736
NM_001042492.2(NF1):c.3270A>C (p.Gly1090=) rs150015024
NM_001042492.2(NF1):c.3303G>A (p.Gln1101=) rs876659944
NM_001042492.2(NF1):c.3318C>T (p.Tyr1106=) rs876659289
NM_001042492.2(NF1):c.3342G>A (p.Leu1114=) rs1172575807
NM_001042492.2(NF1):c.3350G>A (p.Cys1117Tyr) rs876660762
NM_001042492.2(NF1):c.3362A>C (p.Glu1121Ala) rs757222815
NM_001042492.2(NF1):c.3362A>G (p.Glu1121Gly) rs757222815
NM_001042492.2(NF1):c.3375G>A (p.Ala1125=) rs112589561
NM_001042492.2(NF1):c.3375G>T (p.Ala1125=) rs112589561
NM_001042492.2(NF1):c.3394C>T (p.Arg1132Cys) rs587781725
NM_001042492.2(NF1):c.3402G>A (p.Met1134Ile) rs587782701
NM_001042492.2(NF1):c.340C>T (p.Leu114=) rs7207410
NM_001042492.2(NF1):c.3417A>G (p.Ala1139=) rs864622524
NM_001042492.2(NF1):c.3435G>A (p.Thr1145=) rs772432150
NM_001042492.2(NF1):c.3436G>A (p.Val1146Ile) rs201047812
NM_001042492.2(NF1):c.3438C>T (p.Val1146=) rs876659646
NM_001042492.2(NF1):c.3457_3460delCTCA (p.Leu1153Metfs) rs1321848637
NM_001042492.2(NF1):c.3461A>G (p.Asn1154Ser) rs371544233
NM_001042492.2(NF1):c.3468C>T (p.Asn1156=) rs147955381
NM_001042492.2(NF1):c.3478G>T (p.Gly1160Cys) rs786202815
NM_001042492.2(NF1):c.3485T>G (p.Met1162Arg) rs200732832
NM_001042492.2(NF1):c.3490T>G (p.Ser1164Ala) rs750303863
NM_001042492.2(NF1):c.3495A>C (p.Ile1165=) rs876660814
NM_001042492.2(NF1):c.3496+5G>C rs786202564
NM_001042492.2(NF1):c.3497-5A>G rs876660405
NM_001042492.2(NF1):c.3498C>T (p.Gly1166=) rs2066733
NM_001042492.2(NF1):c.3513G>A (p.Lys1171=) rs765438014
NM_001042492.2(NF1):c.3514delG (p.Asp1172Ilefs) rs876660580
NM_001042492.2(NF1):c.3525_3526delAA (p.Arg1176Serfs) rs1131691092
NM_001042492.2(NF1):c.3534A>G (p.Thr1178=) rs876658210
NM_001042492.2(NF1):c.3538A>G (p.Met1180Val) rs786203658
NM_001042492.2(NF1):c.354C>T (p.Cys118=) rs768777585
NM_001042492.2(NF1):c.355C>T (p.His119Tyr) rs1555606066
NM_001042492.2(NF1):c.3564A>G (p.Gln1188=) rs777859444
NM_001042492.2(NF1):c.3587T>G (p.Leu1196Arg) rs199474741
NM_001042492.2(NF1):c.3604G>T (p.Ala1202Ser) rs146641724
NM_001042492.2(NF1):c.3621A>G (p.Arg1207=) rs141390152
NM_001042492.2(NF1):c.3631C>T (p.Leu1211=) rs876658125
NM_001042492.2(NF1):c.3636C>A (p.Val1212=) rs145126193
NM_001042492.2(NF1):c.364C>T (p.His122Tyr) rs587782107
NM_001042492.2(NF1):c.3653A>G (p.Gln1218Arg) rs876659541
NM_001042492.2(NF1):c.366C>T (p.His122=) rs138952888
NM_001042492.2(NF1):c.3672G>A (p.Ala1224=) rs151293900
NM_001042492.2(NF1):c.3679C>T (p.Leu1227=) rs876660431
NM_001042492.2(NF1):c.367A>G (p.Thr123Ala) rs587781757
NM_001042492.2(NF1):c.3686A>G (p.Asn1229Ser) rs140523180
NM_001042492.2(NF1):c.3689T>C (p.Val1230Ala) rs587782820
NM_001042492.2(NF1):c.3690G>A (p.Val1230=) rs183296277
NM_001042492.2(NF1):c.3690G>T (p.Val1230=) rs183296277
NM_001042492.2(NF1):c.369C>G (p.Thr123=) rs146691765
NM_001042492.2(NF1):c.3711T>G (p.Asp1237Glu) rs876659917
NM_001042492.2(NF1):c.3722G>A (p.Arg1241Gln) rs543387071
NM_001042492.2(NF1):c.3727C>T (p.Leu1243=) rs750993436
NM_001042492.2(NF1):c.3732T>A (p.Val1244=) rs756653022
NM_001042492.2(NF1):c.3733A>G (p.Thr1245Ala) rs786203616
NM_001042492.2(NF1):c.3733A>T (p.Thr1245Ser) rs786203616
NM_001042492.2(NF1):c.373C>T (p.Arg125Cys) rs876659418
NM_001042492.2(NF1):c.3749G>A (p.Arg1250Gln) rs199474765
NM_001042492.2(NF1):c.374G>A (p.Arg125His) rs149003051
NM_001042492.2(NF1):c.3765A>G (p.Gln1255=) rs766896025
NM_001042492.2(NF1):c.3766C>T (p.Leu1256=) rs876659360
NM_001042492.2(NF1):c.3786T>C (p.Ser1262=) rs786201645
NM_001042492.2(NF1):c.378A>C (p.Glu126Asp) rs786201914
NM_001042492.2(NF1):c.3796G>C (p.Glu1266Gln) rs876660667
NM_001042492.2(NF1):c.3799T>C (p.Leu1267=) rs876659623
NM_001042492.2(NF1):c.3801G>A (p.Leu1267=) rs786201366
NM_001042492.2(NF1):c.3812T>C (p.Met1271Thr) rs876659801
NM_001042492.2(NF1):c.3813G>A (p.Met1271Ile) rs876658565
NM_001042492.2(NF1):c.3821dupT (p.Phe1275Leufs) rs786203614
NM_001042492.2(NF1):c.3843C>T (p.Ala1281=) rs150426576
NM_001042492.2(NF1):c.3867C>G (p.Phe1289Leu) rs138186428
NM_001042492.2(NF1):c.3867C>T (p.Phe1289=) rs138186428
NM_001042492.2(NF1):c.3868A>G (p.Lys1290Glu) rs876658521
NM_001042492.2(NF1):c.3870+1G>A rs1131691075
NM_001042492.2(NF1):c.3871-2A>G rs1131691077
NM_001042492.2(NF1):c.3871-4G>A rs558421445
NM_001042492.2(NF1):c.3871-4G>C rs558421445
NM_001042492.2(NF1):c.3883A>G (p.Thr1295Ala) rs143836226
NM_001042492.2(NF1):c.3893A>G (p.Gln1298Arg) rs786203509
NM_001042492.2(NF1):c.389A>T (p.His130Leu) rs876660277
NM_001042492.2(NF1):c.3902_3903insTTATTACGAATTG (p.Asp1302Tyrfs) rs786203500
NM_001042492.2(NF1):c.3903G>A (p.Leu1301=) rs876660789
NM_001042492.2(NF1):c.3906T>G (p.Asp1302Glu) rs549058591
NM_001042492.2(NF1):c.3921T>G (p.Ile1307Met) rs876660805
NM_001042492.2(NF1):c.3932C>T (p.Ser1311Phe) rs587782894
NM_001042492.2(NF1):c.393A>C (p.Ala131=) rs761086521
NM_001042492.2(NF1):c.3941G>A (p.Trp1314Ter) rs876658235
NM_001042492.2(NF1):c.3953G>A (p.Ser1318Asn) rs587781900
NM_001042492.2(NF1):c.3963G>A (p.Val1321=) rs876660566
NM_001042492.2(NF1):c.3965A>T (p.Asp1322Val) rs1555615565
NM_001042492.2(NF1):c.3970A>G (p.Thr1324Ala) rs189522993
NM_001042492.2(NF1):c.3975-4G>A rs760207624
NM_001042492.2(NF1):c.3975-5dupT rs786202231
NM_001042492.2(NF1):c.3976T>A (p.Leu1326Ile) rs765957571
NM_001042492.2(NF1):c.3978A>T (p.Leu1326Phe) rs876660506
NM_001042492.2(NF1):c.3987A>G (p.Ser1329=) rs753270018
NM_001042492.2(NF1):c.4004A>G (p.Asn1335Ser) rs1555617304
NM_001042492.2(NF1):c.4009C>T (p.Arg1337Trp) rs146306756
NM_001042492.2(NF1):c.4015C>G (p.Leu1339Val) rs876660466
NM_001042492.2(NF1):c.4017C>T (p.Leu1339=) rs778993658
NM_001042492.2(NF1):c.4018C>T (p.Leu1340Phe) rs876658268
NM_001042492.2(NF1):c.4043A>G (p.His1348Arg) rs786201844
NM_001042492.2(NF1):c.4047C>T (p.Ala1349=) rs752621693
NM_001042492.2(NF1):c.4055G>C (p.Ser1352Thr) rs876660908
NM_001042492.2(NF1):c.4059C>A (p.Ser1353=) rs786203168
NM_001042492.2(NF1):c.4064C>G (p.Ser1355Ter) rs1131691087
NM_001042492.2(NF1):c.4065A>G (p.Ser1355=) rs777669937
NM_001042492.2(NF1):c.4071C>T (p.Phe1357=) rs747272290
NM_001042492.2(NF1):c.4110+3A>G rs774669878
NM_001042492.2(NF1):c.4110+4T>C rs587781700
NM_001042492.2(NF1):c.4111-4G>A rs764877783
NM_001042492.2(NF1):c.4118G>A (p.Cys1373Tyr) rs786202990
NM_001042492.2(NF1):c.4120C>T (p.His1374Tyr) rs764123241
NM_001042492.2(NF1):c.4138G>C (p.Ala1380Pro) rs876658191
NM_001042492.2(NF1):c.4153A>G (p.Lys1385Glu) rs1259436033
NM_001042492.2(NF1):c.4174-3T>C rs786202602
NM_001042492.2(NF1):c.417T>C (p.Ser139=) rs762434870
NM_001042492.2(NF1):c.4195C>T (p.Gln1399Ter) rs1131691072
NM_001042492.2(NF1):c.4207G>A (p.Gly1403Ser) rs138227618
NM_001042492.2(NF1):c.4212A>G (p.Ala1404=) rs376825167
NM_001042492.2(NF1):c.4219A>G (p.Ser1407Gly) rs587781755
NM_001042492.2(NF1):c.4227G>C (p.Met1409Ile) rs786201895
NM_001042492.2(NF1):c.4230C>T (p.Phe1410=) rs750213850
NM_001042492.2(NF1):c.4249G>T (p.Ala1417Ser) rs587781941
NM_001042492.2(NF1):c.4252A>G (p.Ile1418Val) rs369345045
NM_001042492.2(NF1):c.4263G>A (p.Pro1421=) rs201648604
NM_001042492.2(NF1):c.4266dupT (p.Glu1423Terfs) rs876659964
NM_001042492.2(NF1):c.4269A>G (p.Glu1423=) rs17886566
NM_001042492.2(NF1):c.4306G>A (p.Glu1436Lys) rs876660428
NM_001042492.2(NF1):c.4314C>T (p.Gly1438=) rs1555618561
NM_001042492.2(NF1):c.4321T>C (p.Leu1441=) rs786201458
NM_001042492.2(NF1):c.4325T>G (p.Met1442Arg) rs1131691097
NM_001042492.2(NF1):c.433C>G (p.Leu145Val) rs786203460
NM_001042492.2(NF1):c.4340A>C (p.Gln1447Pro) rs786204157
NM_001042492.2(NF1):c.4341G>C (p.Gln1447His) rs876660206
NM_001042492.2(NF1):c.4344T>C (p.Ser1448=) rs1555618644
NM_001042492.2(NF1):c.4352A>G (p.Asn1451Ser) rs199474754
NM_001042492.2(NF1):c.4357G>A (p.Val1453Ile) rs199474755
NM_001042492.2(NF1):c.435C>T (p.Leu145=) rs876659818
NM_001042492.2(NF1):c.4368A>T (p.Thr1456=) rs876659577
NM_001042492.2(NF1):c.4378C>T (p.His1460Tyr) rs377295676
NM_001042492.2(NF1):c.4384C>A (p.Arg1462=) rs876658127
NM_001042492.2(NF1):c.4385G>A (p.Arg1462Gln) rs370852681
NM_001042492.2(NF1):c.4394A>G (p.Asn1465Ser) rs786202492
NM_001042492.2(NF1):c.4402G>A (p.Val1468Met) rs876660320
NM_001042492.2(NF1):c.4409G>A (p.Ser1470Asn) rs876660093
NM_001042492.2(NF1):c.4412A>G (p.Asn1471Ser) rs876658250
NM_001042492.2(NF1):c.4417G>A (p.Asp1473Asn) rs587781790
NM_001042492.2(NF1):c.4421C>T (p.Ala1474Val) rs587781553
NM_001042492.2(NF1):c.4432T>G (p.Phe1478Val) rs1555618802
NM_001042492.2(NF1):c.4446A>G (p.Ile1482Met) rs876658776
NM_001042492.2(NF1):c.4462A>G (p.Thr1488Ala) rs876660162
NM_001042492.2(NF1):c.4465A>G (p.Ser1489Gly) rs199474743
NM_001042492.2(NF1):c.4472C>T (p.Ala1491Val) rs876658334
NM_001042492.2(NF1):c.4486C>T (p.Leu1496Phe) rs1555618823
NM_001042492.2(NF1):c.4489T>C (p.Ser1497Pro) rs763266925
NM_001042492.2(NF1):c.4495A>G (p.Ile1499Val) rs764654925
NM_001042492.2(NF1):c.4500T>C (p.Ser1500=) rs775018971
NM_001042492.2(NF1):c.4503C>T (p.Asp1501=) rs577394398
NM_001042492.2(NF1):c.4504G>A (p.Gly1502Ser) rs876659607
NM_001042492.2(NF1):c.4508A>G (p.Asn1503Ser) rs587781445
NM_001042492.2(NF1):c.4526G>A (p.Arg1509His) rs546073780
NM_001042492.2(NF1):c.4530A>T (p.Leu1510=) rs876660089
NM_001042492.2(NF1):c.4546G>C (p.Glu1516Gln) rs786203390
NM_001042492.2(NF1):c.456A>G (p.Ala152=) rs377481833
NM_001042492.2(NF1):c.4573A>G (p.Asn1525Asp) rs1555618861
NM_001042492.2(NF1):c.4578-5T>C rs772759508
NM_001042492.2(NF1):c.4579G>T (p.Asp1527Tyr) rs587781542
NM_001042492.2(NF1):c.4627delC (p.Ala1544Hisfs) rs1131691088
NM_001042492.2(NF1):c.4635C>A (p.Tyr1545Ter) rs754023358
NM_001042492.2(NF1):c.4635C>T (p.Tyr1545=) rs754023358
NM_001042492.2(NF1):c.4637T>C (p.Leu1546Pro) rs876660760
NM_001042492.2(NF1):c.4642C>T (p.Pro1548Ser) rs876658396
NM_001042492.2(NF1):c.4665A>C (p.Ala1555=) rs786201457
NM_001042492.2(NF1):c.4670C>G (p.Thr1557Arg) rs876660065
NM_001042492.2(NF1):c.4671A>C (p.Thr1557=) rs876658990
NM_001042492.2(NF1):c.467G>T (p.Arg156Leu) rs754096545
NM_001042492.2(NF1):c.4725-1G>A rs1555619391
NM_001042492.2(NF1):c.4749A>G (p.Glu1583=) rs144091165
NM_001042492.2(NF1):c.475A>C (p.Thr159Pro) rs371192107
NM_001042492.2(NF1):c.475A>G (p.Thr159Ala) rs371192107
NM_001042492.2(NF1):c.4765delA (p.Thr1589Argfs) rs1131691098
NM_001042492.2(NF1):c.4767G>A (p.Thr1589=) rs376659579
NM_001042492.2(NF1):c.479+3T>G rs876658752
NM_001042492.2(NF1):c.4803T>C (p.Ala1601=) rs148662566
NM_001042492.2(NF1):c.4813A>G (p.Ile1605Val) rs199474766
NM_001042492.2(NF1):c.4819dupT (p.Tyr1607Leufs) rs876658492
NM_001042492.2(NF1):c.4825G>A (p.Val1609Ile) rs876658973
NM_001042492.2(NF1):c.4826T>C (p.Val1609Ala) rs876660303
NM_001042492.2(NF1):c.4832G>A (p.Arg1611Gln) rs876659197
NM_001042492.2(NF1):c.4835+5G>C rs786201306
NM_001042492.2(NF1):c.4836-3T>C rs372460369
NM_001042492.2(NF1):c.4851A>G (p.Gln1617=) rs150309802
NM_001042492.2(NF1):c.4859G>A (p.Gly1620Asp) rs587782213
NM_001042492.2(NF1):c.4867C>T (p.Leu1623=) rs1555533277
NM_001042492.2(NF1):c.4878T>C (p.His1626=) rs374589653
NM_001042492.2(NF1):c.4882T>C (p.Leu1628=) rs10512435
NM_001042492.2(NF1):c.4899A>G (p.Pro1633=) rs876658422
NM_001042492.2(NF1):c.4904A>G (p.Tyr1635Cys) rs786202866
NM_001042492.2(NF1):c.4904_4905insAAT (p.Tyr1635_Gln1969delinsTer) rs587781780
NM_001042492.2(NF1):c.4929G>A (p.Val1643=) rs17880521
NM_001042492.2(NF1):c.493A>G (p.Thr165Ala) rs786203186
NM_001042492.2(NF1):c.4942A>G (p.Thr1648Ala) rs770558820
NM_001042492.2(NF1):c.4943C>T (p.Thr1648Ile) rs376655102
NM_001042492.2(NF1):c.4944C>T (p.Thr1648=) rs759291615
NM_001042492.2(NF1):c.4948C>T (p.Pro1650Ser) rs1402198290
NM_001042492.2(NF1):c.494C>T (p.Thr165Ile) rs876660009
NM_001042492.2(NF1):c.4957C>T (p.Arg1653Cys) rs876659922
NM_001042492.2(NF1):c.4958G>A (p.Arg1653His) rs763413441
NM_001042492.2(NF1):c.4975C>G (p.Leu1659Val) rs786203709
NM_001042492.2(NF1):c.5004C>G (p.Gly1668=) rs751603479
NM_001042492.2(NF1):c.5007T>C (p.Phe1669=) rs761807609
NM_001042492.2(NF1):c.5019C>T (p.Asn1673=) rs767699634
NM_001042492.2(NF1):c.5023_5024delTC (p.Ser1675Argfs) rs876660286
NM_001042492.2(NF1):c.5025C>T (p.Ser1675=) rs17878418
NM_001042492.2(NF1):c.5026G>A (p.Ala1676Thr) rs756450772
NM_001042492.2(NF1):c.5032T>C (p.Tyr1678His) rs786203241
NM_001042492.2(NF1):c.5049C>T (p.Asn1683=) rs140994965
NM_001042492.2(NF1):c.504A>G (p.Ser168=) rs876658638
NM_001042492.2(NF1):c.5064G>T (p.Glu1688Asp) rs587781693
NM_001042492.2(NF1):c.5084G>A (p.Arg1695Gln) rs1555533367
NM_001042492.2(NF1):c.5087T>C (p.Leu1696Pro) rs745489489
NM_001042492.2(NF1):c.5088G>A (p.Leu1696=) rs786203568
NM_001042492.2(NF1):c.5091G>C (p.Leu1697=) rs876659589
NM_001042492.2(NF1):c.5092A>T (p.Thr1698Ser) rs876659017
NM_001042492.2(NF1):c.5093C>G (p.Thr1698Ser) rs769469854
NM_001042492.2(NF1):c.5101A>C (p.Lys1701Gln) rs876659279
NM_001042492.2(NF1):c.5108G>A (p.Ser1703Asn) rs876660159
NM_001042492.2(NF1):c.5114G>A (p.Arg1705Lys) rs876660487
NM_001042492.2(NF1):c.5126T>C (p.Ile1709Thr) rs876660316
NM_001042492.2(NF1):c.512A>G (p.Asn171Ser) rs767500770
NM_001042492.2(NF1):c.5139G>A (p.Gly1713=) rs786202181
NM_001042492.2(NF1):c.5160G>T (p.Glu1720Asp) rs773378630
NM_001042492.2(NF1):c.5169A>T (p.Gln1723His) rs864622372
NM_001042492.2(NF1):c.5189C>G (p.Thr1730Ser) rs772831692
NM_001042492.2(NF1):c.5191T>G (p.Leu1731Val) rs876658602
NM_001042492.2(NF1):c.5215G>C (p.Val1739Leu) rs876659956
NM_001042492.2(NF1):c.5221C>T (p.His1741Tyr) rs780529277
NM_001042492.2(NF1):c.5229T>C (p.Ala1743=) rs876657546
NM_001042492.2(NF1):c.5235G>A (p.Lys1745=) rs17887014
NM_001042492.2(NF1):c.5257G>A (p.Val1753Ile) rs148540952
NM_001042492.2(NF1):c.5269-1G>A rs876660141
NM_001042492.2(NF1):c.5289A>G (p.Gln1763=) rs199703296
NM_001042492.2(NF1):c.5290G>A (p.Val1764Ile) rs778427434
NM_001042492.2(NF1):c.529A>G (p.Ile177Val) rs766213678
NM_001042492.2(NF1):c.5311A>G (p.Lys1771Glu) rs1131691103
NM_001042492.2(NF1):c.5322G>T (p.Gly1774=) rs201584313
NM_001042492.2(NF1):c.5329G>A (p.Val1777Ile) rs876658562
NM_001042492.2(NF1):c.5381T>C (p.Val1794Ala) rs142867979
NM_001042492.2(NF1):c.5391C>T (p.Asn1797=) rs1449178444
NM_001042492.2(NF1):c.5407A>G (p.Ile1803Val) rs559910904
NM_001042492.2(NF1):c.541C>G (p.Gln181Glu) rs753529924
NM_001042492.2(NF1):c.5423C>T (p.Thr1808Met) rs760649828
NM_001042492.2(NF1):c.5424G>A (p.Thr1808=) rs765841113
NM_001042492.2(NF1):c.5426C>T (p.Pro1809Leu) rs587782220
NM_001042492.2(NF1):c.5458A>C (p.Ile1820Leu) rs786202459
NM_001042492.2(NF1):c.5469dupT (p.Ile1824Tyrfs) rs267606605
NM_001042492.2(NF1):c.5483G>A (p.Arg1828Gln) rs876660298
NM_001042492.2(NF1):c.5503C>G (p.Gln1835Glu) rs786202177
NM_001042492.2(NF1):c.5504A>G (p.Gln1835Arg) rs876660025
NM_001042492.2(NF1):c.5508C>T (p.Pro1836=) rs786202557
NM_001042492.2(NF1):c.5510_5518delACTCTATCC (p.Asp1837_Pro1840delinsAla) rs876660622
NM_001042492.2(NF1):c.5513C>G (p.Ser1838Cys) rs368654378
NM_001042492.2(NF1):c.551A>G (p.Asn184Ser) rs876659849
NM_001042492.2(NF1):c.5520C>A (p.Pro1840=) rs786201638
NM_001042492.2(NF1):c.5521C>A (p.Gln1841Lys) rs786203570
NM_001042492.2(NF1):c.5523A>G (p.Gln1841=) rs151046636
NM_001042492.2(NF1):c.5523A>T (p.Gln1841His) rs151046636
NM_001042492.2(NF1):c.5525A>G (p.His1842Arg) rs876660928
NM_001042492.2(NF1):c.5550C>T (p.Val1850=) rs876658124
NM_001042492.2(NF1):c.5572G>A (p.Ala1858Thr) rs786203416
NM_001042492.2(NF1):c.5577A>C (p.Leu1859Phe) rs876659180
NM_001042492.2(NF1):c.5601G>A (p.Pro1867=) rs766322878
NM_001042492.2(NF1):c.5609G>A (p.Arg1870Gln) rs786202112
NM_001042492.2(NF1):c.560delG (p.Cys187Leufs) rs1555607107
NM_001042492.2(NF1):c.5619C>G (p.Ala1873=) rs786203335
NM_001042492.2(NF1):c.5625_5630delTCTTCTinsG (p.Asn1875Lysfs) rs1131691081
NM_001042492.2(NF1):c.5631G>A (p.Leu1877=) rs1555533844
NM_001042492.2(NF1):c.5642C>A (p.Thr1881Asn) rs876658349
NM_001042492.2(NF1):c.5649C>T (p.Thr1883=) rs139696493
NM_001042492.2(NF1):c.5650T>G (p.Phe1884Val) rs1060500378
NM_001042492.2(NF1):c.5664C>T (p.Ile1888=) rs373685150
NM_001042492.2(NF1):c.5676A>G (p.Leu1892=) rs876658130
NM_001042492.2(NF1):c.5719T>C (p.Phe1907Leu) rs876660040
NM_001042492.2(NF1):c.5724T>C (p.Ile1908=) rs786203312
NM_001042492.2(NF1):c.572A>C (p.Lys191Thr) rs1555607113
NM_001042492.2(NF1):c.5730dupT (p.Ile1911Tyrfs) rs876660212
NM_001042492.2(NF1):c.5731A>G (p.Ile1911Val) rs146523293
NM_001042492.2(NF1):c.5741C>A (p.Thr1914Lys) rs1555533873
NM_001042492.2(NF1):c.5753A>G (p.Asn1918Ser) rs534249104
NM_001042492.2(NF1):c.5757G>A (p.Glu1919=) rs141077224
NM_001042492.2(NF1):c.575G>A (p.Arg192Gln) rs587781670
NM_001042492.2(NF1):c.5768C>T (p.Thr1923Met) rs786203824
NM_001042492.2(NF1):c.5782G>T (p.Glu1928Ter) rs786203896
NM_001042492.2(NF1):c.5787G>C (p.Glu1929Asp) rs786202591
NM_001042492.2(NF1):c.5793T>C (p.Ile1931=) rs779114598
NM_001042492.2(NF1):c.5805C>T (p.Ser1935=) rs876660179
NM_001042492.2(NF1):c.5812+1G>A rs876658854
NM_001042492.2(NF1):c.582G>A (p.Leu194=) rs786201846
NM_001042492.2(NF1):c.5839G>T (p.Glu1947Ter) rs587782088
NM_001042492.2(NF1):c.584A>G (p.Lys195Arg) rs587778552
NM_001042492.2(NF1):c.5854T>C (p.Trp1952Arg) rs199474791
NM_001042492.2(NF1):c.585G>A (p.Lys195=) rs918734204
NM_001042492.2(NF1):c.586G>A (p.Glu196Lys) rs876659079
NM_001042492.2(NF1):c.5883G>A (p.Lys1961=) rs144808600
NM_001042492.2(NF1):c.5906A>T (p.Gln1969Leu) rs143502927
NM_001042492.2(NF1):c.5919T>C (p.Ala1973=) rs876659706
NM_001042492.2(NF1):c.5925T>C (p.Leu1975=) rs375776474
NM_001042492.2(NF1):c.5930A>G (p.Lys1977Arg) rs1555534416
NM_001042492.2(NF1):c.5931G>A (p.Lys1977=) rs786201672
NM_001042492.2(NF1):c.5947A>G (p.Ile1983Val) rs876658484
NM_001042492.2(NF1):c.5959C>G (p.Gln1987Glu) rs876659070
NM_001042492.2(NF1):c.5961G>A (p.Gln1987=) rs757536610
NM_001042492.2(NF1):c.5970A>G (p.Pro1990=) rs876658601
NM_001042492.2(NF1):c.5982A>G (p.Ala1994=) rs876659794
NM_001042492.2(NF1):c.5991G>A (p.Trp1997Ter) rs876660696
NM_001042492.2(NF1):c.60+2delT rs1131691101
NM_001042492.2(NF1):c.6013G>A (p.Asp2005Asn) rs876658702
NM_001042492.2(NF1):c.6022G>A (p.Asp2008Asn) rs786201924
NM_001042492.2(NF1):c.6033A>G (p.Leu2011=) rs147995863
NM_001042492.2(NF1):c.6037A>G (p.Ser2013Gly) rs876658710
NM_001042492.2(NF1):c.6060A>G (p.Thr2020=) rs761889172
NM_001042492.2(NF1):c.6082G>C (p.Ala2028Pro) rs767869530
NM_001042492.2(NF1):c.61-2A>T rs1131691100
NM_001042492.2(NF1):c.6111T>C (p.Ala2037=) rs876658898
NM_001042492.2(NF1):c.6162G>T (p.Met2054Ile) rs876660651
NM_001042492.2(NF1):c.6171A>T (p.Ile2057=) rs140733963
NM_001042492.2(NF1):c.6172A>G (p.Ile2058Val) rs201712827
NM_001042492.2(NF1):c.6203C>T (p.Thr2068Ile) rs876659172
NM_001042492.2(NF1):c.623C>T (p.Ala208Val) rs758624540
NM_001042492.2(NF1):c.624G>T (p.Ala208=) rs370184932
NM_001042492.2(NF1):c.625C>T (p.Gln209Ter) rs786203448
NM_001042492.2(NF1):c.6264G>A (p.Leu2088=) rs762751192
NM_001042492.2(NF1):c.6288G>A (p.Val2096=) rs786203541
NM_001042492.2(NF1):c.6293C>T (p.Ala2098Val) rs764106639
NM_001042492.2(NF1):c.629T>G (p.Leu210Ter) rs876658570
NM_001042492.2(NF1):c.6300T>C (p.Leu2100=) rs876660236
NM_001042492.2(NF1):c.6306_6307insT (p.Leu2103Serfs) rs876659471
NM_001042492.2(NF1):c.6310T>C (p.Phe2104Leu) rs876660000
NM_001042492.2(NF1):c.6315C>T (p.His2105=) rs145732909
NM_001042492.2(NF1):c.6322A>T (p.Thr2108Ser) rs1024333224
NM_001042492.2(NF1):c.6323C>T (p.Thr2108Ile) rs876658920
NM_001042492.2(NF1):c.6325T>A (p.Phe2109Ile) rs786203627
NM_001042492.2(NF1):c.6333A>G (p.Val2111=) rs876660592
NM_001042492.2(NF1):c.633A>G (p.Ala211=) rs876660800
NM_001042492.2(NF1):c.6345G>A (p.Pro2115=) rs779475182
NM_001042492.2(NF1):c.6358_6359insTTTAA (p.Ala2120Valfs) rs1131691133
NM_001042492.2(NF1):c.6360T>C (p.Ala2120=) rs371578074
NM_001042492.2(NF1):c.6375G>A (p.Leu2125=) rs773467465
NM_001042492.2(NF1):c.6379A>G (p.Ile2127Val) rs200022550
NM_001042492.2(NF1):c.6387C>T (p.Ile2129=) rs786203078
NM_001042492.2(NF1):c.6393C>T (p.His2131=) rs17881788
NM_001042492.2(NF1):c.6424A>C (p.Ser2142Arg) rs1135402886
NM_001042492.2(NF1):c.6425G>A (p.Ser2142Asn) rs876658896
NM_001042492.2(NF1):c.6428-3C>T rs374014162
NM_001042492.2(NF1):c.6461C>T (p.Thr2154Ile) rs876658495
NM_001042492.2(NF1):c.6520_6538del19 (p.Ala2174Profs) rs786203806
NM_001042492.2(NF1):c.6525_6537del13 (p.Ile2176Profs) rs1131691071
NM_001042492.2(NF1):c.6528T>C (p.Ile2176=) rs147522129
NM_001042492.2(NF1):c.6546C>T (p.Tyr2182=) rs876659768
NM_001042492.2(NF1):c.6552C>T (p.Asp2184=) rs376808264
NM_001042492.2(NF1):c.6555G>A (p.Arg2185=) rs786203189
NM_001042492.2(NF1):c.6557C>G (p.Ser2186Ter) rs1131691091
NM_001042492.2(NF1):c.6558A>C (p.Ser2186=) rs753509749
NM_001042492.2(NF1):c.6569_6570delGC (p.Gly2190Valfs) rs1131691076
NM_001042492.2(NF1):c.6583_6586delGAGA (p.Glu2195Leufs) rs1131691084
NM_001042492.2(NF1):c.6585G>A (p.Glu2195=) rs202151774
NM_001042492.2(NF1):c.6586A>G (p.Thr2196Ala) rs372169109
NM_001042492.2(NF1):c.6616A>G (p.Thr2206Ala) rs781167415
NM_001042492.2(NF1):c.6624T>C (p.Ala2208=) rs746061888
NM_001042492.2(NF1):c.6628T>C (p.Leu2210=) rs138265293
NM_001042492.2(NF1):c.6642+4T>C rs587781687
NM_001042492.2(NF1):c.6642G>A (p.Glu2214=) rs876660207
NM_001042492.2(NF1):c.6649A>G (p.Met2217Val) rs876658255
NM_001042492.2(NF1):c.6657T>G (p.Asp2219Glu) rs786203831
NM_001042492.2(NF1):c.665A>C (p.Asn222Thr) rs587781709
NM_001042492.2(NF1):c.6663A>G (p.Pro2221=) rs876660136
NM_001042492.2(NF1):c.6664A>G (p.Thr2222Ala) rs745945481
NM_001042492.2(NF1):c.6665C>T (p.Thr2222Met) rs369803831
NM_001042492.2(NF1):c.6666G>A (p.Thr2222=) rs780247942
NM_001042492.2(NF1):c.6666G>C (p.Thr2222=) rs780247942
NM_001042492.2(NF1):c.6671A>G (p.Lys2224Arg) rs749567006
NM_001042492.2(NF1):c.6672G>A (p.Lys2224=) rs771835288
NM_001042492.2(NF1):c.6676C>T (p.Leu2226=) rs876658129
NM_001042492.2(NF1):c.6681C>A (p.Asp2227Glu) rs876659371
NM_001042492.2(NF1):c.6704+3A>G rs375560135
NM_001042492.2(NF1):c.6705-3C>G rs1131691079
NM_001042492.2(NF1):c.6715C>T (p.Gln2239Ter) rs1131691093
NM_001042492.2(NF1):c.6758G>A (p.Gly2253Glu) rs876659295
NM_001042492.2(NF1):c.6772C>T (p.Arg2258Ter) rs876658541
NM_001042492.2(NF1):c.6773G>A (p.Arg2258Gln) rs786202030
NM_001042492.2(NF1):c.6779C>T (p.Ser2260Phe) rs876658775
NM_001042492.2(NF1):c.6781C>T (p.His2261Tyr) rs750869272
NM_001042492.2(NF1):c.6801A>G (p.Ile2267Met) rs876659381
NM_001042492.2(NF1):c.6806G>A (p.Arg2269His) rs562367786
NM_001042492.2(NF1):c.6813T>A (p.Leu2271=) rs876658704
NM_001042492.2(NF1):c.6818A>G (p.Lys2273Arg) rs1060500344
NM_001042492.2(NF1):c.6819+5C>A rs876659499
NM_001042492.2(NF1):c.6834C>T (p.Cys2278=) rs149603406
NM_001042492.2(NF1):c.6837A>C (p.Leu2279Phe) rs144287929
NM_001042492.2(NF1):c.6855C>A (p.Tyr2285Ter) rs772295894
NM_001042492.2(NF1):c.6871A>C (p.Ile2291Leu) rs876659722
NM_001042492.2(NF1):c.6871A>T (p.Ile2291Leu) rs876659722
NM_001042492.2(NF1):c.6881C>T (p.Thr2294Ile) rs786201902
NM_001042492.2(NF1):c.6900A>C (p.Lys2300Asn) rs786203861
NM_001042492.2(NF1):c.6919_6921delAAG (p.Lys2307del) rs587782819
NM_001042492.2(NF1):c.6922-3C>T rs876659438
NM_001042492.2(NF1):c.6927G>A (p.Ser2309=) rs763028083
NM_001042492.2(NF1):c.693T>C (p.Phe231=) rs876660028
NM_001042492.2(NF1):c.6945C>T (p.Leu2315=) rs751893971
NM_001042492.2(NF1):c.694A>T (p.Thr232Ser) rs876660027
NM_001042492.2(NF1):c.6955G>A (p.Ala2319Thr) rs786203881
NM_001042492.2(NF1):c.6967C>T (p.Leu2323=) rs876660069
NM_001042492.2(NF1):c.696A>G (p.Thr232=) rs368691517
NM_001042492.2(NF1):c.6970C>T (p.Gln2324Ter) rs1131691073
NM_001042492.2(NF1):c.6972G>A (p.Gln2324=) rs1555535169
NM_001042492.2(NF1):c.6975T>C (p.Leu2325=) rs876659851
NM_001042492.2(NF1):c.6978T>C (p.Asp2326=) rs1135402896
NM_001042492.2(NF1):c.7003A>G (p.Thr2335Ala) rs370209920
NM_001042492.2(NF1):c.7005C>T (p.Thr2335=) rs2040793
NM_001042492.2(NF1):c.7006G>A (p.Ala2336Thr) rs587781428
NM_001042492.2(NF1):c.7011T>G (p.Leu2337=) rs876659169
NM_001042492.2(NF1):c.7023C>T (p.Asn2341=) rs1208205873
NM_001042492.2(NF1):c.7026G>A (p.Leu2342=) rs371581213
NM_001042492.2(NF1):c.7027C>T (p.His2343Tyr) rs781578248
NM_001042492.2(NF1):c.7028_7031delATAC (p.His2343Leufs) rs1131691083
NM_001042492.2(NF1):c.702G>A (p.Leu234=) rs1801052
NM_001042492.2(NF1):c.7044C>T (p.Leu2348=) rs1350755921
NM_001042492.2(NF1):c.7057_7059delGAC (p.Asp2353del) rs786203558
NM_001042492.2(NF1):c.705C>G (p.Tyr235Ter) rs769048538
NM_001042492.2(NF1):c.7067C>T (p.Pro2356Leu) rs1555535402
NM_001042492.2(NF1):c.7070A>G (p.Glu2357Gly) rs786203596
NM_001042492.2(NF1):c.7087A>G (p.Ile2363Val) rs137966859
NM_001042492.2(NF1):c.7092G>A (p.Arg2364=) rs762081710
NM_001042492.2(NF1):c.7102delG (p.Glu2368Serfs) rs1131691082
NM_001042492.2(NF1):c.7108C>T (p.His2370Tyr) rs587781479
NM_001042492.2(NF1):c.7110_7111delCT (p.His2370Glnfs) rs1555535416
NM_001042492.2(NF1):c.7158T>C (p.Phe2386=) rs876660271
NM_001042492.2(NF1):c.7164T>C (p.Phe2388=) rs786203400
NM_001042492.2(NF1):c.7190-5T>C rs748245325
NM_001042492.2(NF1):c.7190-5delT rs769290414
NM_001042492.2(NF1):c.7195delA (p.Arg2399Glyfs) rs1131691102
NM_001042492.2(NF1):c.7213A>G (p.Ile2405Val) rs565708398
NM_001042492.2(NF1):c.7234delA (p.Ile2412Phefs) rs876658245
NM_001042492.2(NF1):c.7241A>G (p.His2414Arg) rs876659855
NM_001042492.2(NF1):c.7245A>G (p.Thr2415=) rs539553128
NM_001042492.2(NF1):c.7246C>T (p.Leu2416=) rs786201310
NM_001042492.2(NF1):c.7271G>T (p.Arg2424Ile) rs1555536029
NM_001042492.2(NF1):c.7289A>C (p.Glu2430Ala) rs876659449
NM_001042492.2(NF1):c.7298C>T (p.Thr2433Ile) rs755749772
NM_001042492.2(NF1):c.7305C>T (p.Ser2435=) rs369754180
NM_001042492.2(NF1):c.7306G>A (p.Val2436Met) rs876659856
NM_001042492.2(NF1):c.7311C>T (p.Ala2437=) rs876659893
NM_001042492.2(NF1):c.7313A>G (p.Tyr2438Cys) rs876660597
NM_001042492.2(NF1):c.7332A>T (p.Thr2444=) rs759005886
NM_001042492.2(NF1):c.7343_7345delAAG (p.Glu2448del) rs587781961
NM_001042492.2(NF1):c.7344A>G (p.Glu2448=) rs374234848
NM_001042492.2(NF1):c.7348C>T (p.Arg2450Ter) rs786202457
NM_001042492.2(NF1):c.734G>A (p.Cys245Tyr) rs587781869
NM_001042492.2(NF1):c.734G>T (p.Cys245Phe) rs587781869
NM_001042492.2(NF1):c.7364T>C (p.Leu2455Pro) rs1555536128
NM_001042492.2(NF1):c.7368A>G (p.Lys2456=) rs201287021
NM_001042492.2(NF1):c.7368A>T (p.Lys2456Asn) rs201287021
NM_001042492.2(NF1):c.7387_7389delCTT (p.Leu2463del) rs786203184
NM_001042492.2(NF1):c.7392delT (p.Asp2465Ilefs) rs786202180
NM_001042492.2(NF1):c.7410T>C (p.Asn2470=) rs17881903
NM_001042492.2(NF1):c.7411G>A (p.Val2471Ile) rs876660126
NM_001042492.2(NF1):c.7415C>G (p.Pro2472Arg) rs786202184
NM_001042492.2(NF1):c.7416T>C (p.Pro2472=) rs876659624
NM_001042492.2(NF1):c.7429C>G (p.Pro2477Ala) rs876658722
NM_001042492.2(NF1):c.742A>G (p.Lys248Glu) rs876658252
NM_001042492.2(NF1):c.7435C>T (p.His2479Tyr) rs587782119
NM_001042492.2(NF1):c.7439A>G (p.His2480Arg) rs371151718
NM_001042492.2(NF1):c.7442G>T (p.Gly2481Val) rs786202540
NM_001042492.2(NF1):c.7446C>A (p.Asp2482Glu) rs876660614
NM_001042492.2(NF1):c.7461A>G (p.Thr2487=) rs149924365
NM_001042492.2(NF1):c.7462C>G (p.Leu2488Val) rs876660345
NM_001042492.2(NF1):c.747A>G (p.Leu249=) rs761964963
NM_001042492.2(NF1):c.7484C>T (p.Ser2495Phe) rs757245615
NM_001042492.2(NF1):c.7487C>G (p.Ser2496Cys) rs371773406
NM_001042492.2(NF1):c.74C>T (p.Thr25Ile) rs1555604874
NM_001042492.2(NF1):c.7504G>C (p.Gly2502Arg) rs1555536357
NM_001042492.2(NF1):c.7510C>G (p.Leu2504Val) rs876658333
NM_001042492.2(NF1):c.7513G>C (p.Ala2505Pro) rs786202955
NM_001042492.2(NF1):c.7520C>T (p.Thr2507Ile) rs149055633
NM_001042492.2(NF1):c.7526C>T (p.Pro2509Leu) rs786202146
NM_001042492.2(NF1):c.7528A>G (p.Thr2510Ala) rs145794301
NM_001042492.2(NF1):c.7536C>T (p.Gly2512=) rs786203187
NM_001042492.2(NF1):c.7542C>T (p.Thr2514=) rs1444018213
NM_001042492.2(NF1):c.7549C>T (p.Arg2517Ter) rs866445127
NM_001042492.2(NF1):c.7554C>G (p.Ala2518=) rs141897690
NM_001042492.2(NF1):c.7569C>T (p.Ser2523=) rs786201476
NM_001042492.2(NF1):c.757G>C (p.Val253Leu) rs786203607
NM_001042492.2(NF1):c.7584A>G (p.Gln2528=) rs55865524
NM_001042492.2(NF1):c.7594G>A (p.Ala2532Thr) rs1555536373
NM_001042492.2(NF1):c.7600A>G (p.Thr2534Ala) rs779737221
NM_001042492.2(NF1):c.7609T>C (p.Leu2537=) rs748843392
NM_001042492.2(NF1):c.7610T>C (p.Leu2537Ser) rs876658670
NM_001042492.2(NF1):c.7616-4A>G rs761675429
NM_001042492.2(NF1):c.7623G>A (p.Arg2541=) rs876660737
NM_001042492.2(NF1):c.7635T>A (p.Asp2545Glu) rs876659530
NM_001042492.2(NF1):c.7642A>G (p.Ile2548Val) rs1555536636
NM_001042492.2(NF1):c.7645T>C (p.Ser2549Pro) rs767458044
NM_001042492.2(NF1):c.7647A>G (p.Ser2549=) rs750342324
NM_001042492.2(NF1):c.7663A>G (p.Lys2555Glu) rs786203792
NM_001042492.2(NF1):c.7668G>C (p.Arg2556Ser) rs876659035
NM_001042492.2(NF1):c.7693A>G (p.Thr2565Ala) rs786202548
NM_001042492.2(NF1):c.7700C>T (p.Pro2567Leu) rs754511534
NM_001042492.2(NF1):c.7708A>G (p.Arg2570Gly) rs786202086
NM_001042492.2(NF1):c.7728T>C (p.Asp2576=) rs876658892
NM_001042492.2(NF1):c.7737G>A (p.Met2579Ile) rs587781834
NM_001042492.2(NF1):c.7738+3G>A rs771445239
NM_001042492.2(NF1):c.7742C>G (p.Thr2581Ser) rs757632129
NM_001042492.2(NF1):c.7744C>A (p.Gln2582Lys) rs587781651
NM_001042492.2(NF1):c.774A>G (p.Glu258=) rs1555608947
NM_001042492.2(NF1):c.7755C>T (p.Ser2585=) rs17881980
NM_001042492.2(NF1):c.7758A>C (p.Ser2586=) rs876658564
NM_001042492.2(NF1):c.7760C>G (p.Ser2587Ter) rs1131691090
NM_001042492.2(NF1):c.7767G>C (p.Gln2589His) rs587782168
NM_001042492.2(NF1):c.7781G>A (p.Arg2594His) rs774781617
NM_001042492.2(NF1):c.7804A>G (p.Asn2602Asp) rs150657839
NM_001042492.2(NF1):c.7825G>A (p.Val2609Ile) rs786203848
NM_001042492.2(NF1):c.7833T>C (p.Thr2611=) rs786202445
NM_001042492.2(NF1):c.7838C>T (p.Pro2613Leu) rs750972729
NM_001042492.2(NF1):c.7838dup (p.Lys2614Glufs) rs1131691129
NM_001042492.2(NF1):c.7841A>G (p.Lys2614Arg) rs587781502
NM_001042492.2(NF1):c.7845C>T (p.Ile2615=) rs876659117
NM_001042492.2(NF1):c.7847A>G (p.Gln2616Arg) rs876659308
NM_001042492.2(NF1):c.7850C>T (p.Ala2617Val) rs375990655
NM_001042492.2(NF1):c.7851G>A (p.Ala2617=) rs751273275
NM_001042492.2(NF1):c.7851G>T (p.Ala2617=) rs751273275
NM_001042492.2(NF1):c.7869+1G>A rs1329683225
NM_001042492.2(NF1):c.7869A>G (p.Leu2623=) rs876659536
NM_001042492.2(NF1):c.7872T>C (p.Ala2624=) rs1399938334
NM_001042492.2(NF1):c.7881A>G (p.Val2627=) rs756880349
NM_001042492.2(NF1):c.7891A>G (p.Thr2631Ala) rs199474793
NM_001042492.2(NF1):c.7909C>T (p.Arg2637Ter) rs786201367
NM_001042492.2(NF1):c.7910G>A (p.Arg2637Gln) rs560262404
NM_001042492.2(NF1):c.7922A>T (p.Glu2641Val) rs876658205
NM_001042492.2(NF1):c.7963C>A (p.Pro2655Thr) rs587781791
NM_001042492.2(NF1):c.7981T>C (p.Leu2661=) rs777848844
NM_001042492.2(NF1):c.7986C>T (p.Asp2662=) rs876658550
NM_001042492.2(NF1):c.7988C>T (p.Ser2663Phe) rs786202579
NM_001042492.2(NF1):c.7989T>C (p.Ser2663=) rs1555536881
NM_001042492.2(NF1):c.7998C>T (p.Asn2666=) rs747307832
NM_001042492.2(NF1):c.8000C>T (p.Thr2667Ile) rs786203669
NM_001042492.2(NF1):c.8001C>A (p.Thr2667=) rs876658475
NM_001042492.2(NF1):c.8009C>A (p.Ser2670Ter) rs1131691074
NM_001042492.2(NF1):c.8041A>G (p.Ile2681Val) rs146315101
NM_001042492.2(NF1):c.804A>C (p.Pro268=) rs759964997
NM_001042492.2(NF1):c.805C>T (p.Leu269=) rs786202456
NM_001042492.2(NF1):c.8060G>T (p.Ser2687Ile) rs1555536916
NM_001042492.2(NF1):c.8061T>C (p.Ser2687=) rs786202936
NM_001042492.2(NF1):c.8064G>A (p.Val2688=) rs876659082
NM_001042492.2(NF1):c.8080T>C (p.Ser2694Pro) rs876658554
NM_001042492.2(NF1):c.808C>G (p.Gln270Glu) rs1555608970
NM_001042492.2(NF1):c.8091A>G (p.Gln2697=) rs760433938
NM_001042492.2(NF1):c.8095C>T (p.Gln2699Ter) rs786203443
NM_001042492.2(NF1):c.8097A>G (p.Gln2699=) rs1286475305
NM_001042492.2(NF1):c.8150C>T (p.Pro2717Leu) rs778799019
NM_001042492.2(NF1):c.8151G>A (p.Pro2717=) rs2285895
NM_001042492.2(NF1):c.8161-3C>T rs786203684
NM_001042492.2(NF1):c.8179T>C (p.Tyr2727His) rs876660178
NM_001042492.2(NF1):c.8183C>T (p.Ala2728Val) rs760973918
NM_001042492.2(NF1):c.8214G>A (p.Leu2738=) rs786201597
NM_001042492.2(NF1):c.8216T>C (p.Ile2739Thr) rs752541243
NM_001042492.2(NF1):c.8218G>A (p.Asp2740Asn) rs1555537228
NM_001042492.2(NF1):c.8223G>C (p.Thr2741=) rs777755159
NM_001042492.2(NF1):c.8238T>G (p.Ile2746Met) rs779789452
NM_001042492.2(NF1):c.823A>C (p.Ile275Leu) rs786202464
NM_001042492.2(NF1):c.826T>C (p.Leu276=) rs786203904
NM_001042492.2(NF1):c.82C>T (p.Gln28Ter) rs771764281
NM_001042492.2(NF1):c.8324A>C (p.Asn2775Thr) rs772090874
NM_001042492.2(NF1):c.8367G>A (p.Gln2789=) rs786201780
NM_001042492.2(NF1):c.8378-4C>T rs587782700
NM_001042492.2(NF1):c.8394C>T (p.Asn2798=) rs376136174
NM_001042492.2(NF1):c.8395G>A (p.Val2799Ile) rs377393842
NM_001042492.2(NF1):c.83A>C (p.Gln28Pro) rs587782686
NM_001042492.2(NF1):c.8409T>C (p.Pro2803=) rs748507988
NM_001042492.2(NF1):c.843C>T (p.Ile281=) rs146094856
NM_001042492.2(NF1):c.8440C>T (p.Arg2814Cys) rs876658139
NM_001042492.2(NF1):c.8446G>A (p.Gly2816Arg) rs778233452
NM_001042492.2(NF1):c.8451C>T (p.Ser2817=) rs547090599
NM_001042492.2(NF1):c.846G>A (p.Gln282=) rs138840528
NM_001042492.2(NF1):c.8479G>T (p.Ala2827Ser) rs199878086
NM_001042492.2(NF1):c.8484C>T (p.Gly2828=) rs143289497
NM_001042492.2(NF1):c.8490C>A (p.Phe2830Leu) rs760550772
NM_001042492.2(NF1):c.8494C>T (p.Arg2832Cys) rs587782893
NM_001042492.2(NF1):c.8495G>A (p.Arg2832His) rs587781523
NM_001042492.2(NF1):c.8497A>C (p.Asn2833His) rs786202863
NM_001042492.2(NF1):c.8499T>C (p.Asn2833=) rs142636150
NM_001042492.2(NF1):c.8515G>A (p.Val2839Met) rs368149035
NM_001042492.2(NF1):c.8517G>A (p.Val2839=) rs786202329
NM_001042492.2(NF1):c.861C>T (p.Asp287=) rs749949219
NM_001042492.2(NF1):c.862G>A (p.Val288Met) rs755670651
NM_001042492.2(NF1):c.864G>C (p.Val288=) rs201181517
NM_001042492.2(NF1):c.872A>C (p.Glu291Ala) rs876660171
NM_001042492.2(NF1):c.876C>T (p.Asn292=) rs786202811
NM_001042492.2(NF1):c.888+5G>A rs556444929
NM_001042492.2(NF1):c.889-1G>T rs587781517
NM_001042492.2(NF1):c.889A>C (p.Lys297Gln) rs786202384
NM_001042492.2(NF1):c.898C>T (p.Leu300=) rs786201926
NM_001042492.2(NF1):c.905G>A (p.Ser302Asn) rs786202746
NM_001042492.2(NF1):c.909A>G (p.Leu303=) rs876659803
NM_001042492.2(NF1):c.910C>T (p.Arg304Ter) rs786203950
NM_001042492.2(NF1):c.91C>T (p.His31Tyr) rs786202864
NM_001042492.2(NF1):c.923C>G (p.Ala308Gly) rs876660836
NM_001042492.2(NF1):c.92A>G (p.His31Arg) rs199474725
NM_001042492.2(NF1):c.936A>C (p.Gly312=) rs876658874
NM_001042492.2(NF1):c.942G>A (p.Arg314=) rs786203445
NM_001042492.2(NF1):c.948G>A (p.Leu316=) rs876658782
NM_001042492.2(NF1):c.955dupA (p.Ser319Lysfs) rs876660931
NM_001042492.2(NF1):c.960T>A (p.Ala320=) rs376447070
NM_001042492.2(NF1):c.965T>C (p.Ile322Thr) rs1417994243
NM_001042492.2(NF1):c.969C>T (p.Ala323=) rs786201462
NM_001042492.2(NF1):c.978A>G (p.Lys326=) rs1555610891
NM_001042492.2(NF1):c.99A>G (p.Lys33=) rs786203280

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