ClinVar Miner

List of variants in gene NF1 reported as uncertain significance for Hereditary cancer-predisposing syndrome

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Gene type:
ClinVar version:
Total variants: 874
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HGVS dbSNP
NM_000267.3(NF1):c.*1A>C rs876658388
NM_000267.3(NF1):c.1004A>G (p.Asn335Ser) rs758212945
NM_000267.3(NF1):c.100G>A (p.Val34Ile) rs772995929
NM_000267.3(NF1):c.1021G>A (p.Val341Ile) rs1555610907
NM_000267.3(NF1):c.107C>G (p.Thr36Ser) rs199966218
NM_000267.3(NF1):c.107C>T (p.Thr36Ile) rs199966218
NM_000267.3(NF1):c.1080A>C (p.Pro360=) rs777642846
NM_000267.3(NF1):c.1082G>C (p.Ser361Thr) rs876660103
NM_000267.3(NF1):c.1085A>G (p.Lys362Arg) rs1555610976
NM_000267.3(NF1):c.1120G>A (p.Asp374Asn) rs876658666
NM_000267.3(NF1):c.1121A>T (p.Asp374Val) rs876660856
NM_000267.3(NF1):c.1138C>T (p.Leu380Phe) rs1426127948
NM_000267.3(NF1):c.1141G>A (p.Val381Ile) rs876660276
NM_000267.3(NF1):c.1153C>T (p.Arg385Cys) rs1322986962
NM_000267.3(NF1):c.1160G>A (p.Ser387Asn) rs1555611025
NM_000267.3(NF1):c.1166A>G (p.His389Arg) rs149739570
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.1190G>C (p.Cys397Ser) rs786201937
NM_000267.3(NF1):c.1213A>G (p.Thr405Ala) rs587782233
NM_000267.3(NF1):c.1214C>T (p.Thr405Ile) rs1555611082
NM_000267.3(NF1):c.1223A>G (p.Tyr408Cys) rs876660344
NM_000267.3(NF1):c.1226T>A (p.Val409Glu) rs876660378
NM_000267.3(NF1):c.122A>C (p.Glu41Ala) rs786203038
NM_000267.3(NF1):c.1243C>T (p.His415Tyr) rs1415155749
NM_000267.3(NF1):c.1244A>G (p.His415Arg) rs1555611097
NM_000267.3(NF1):c.1261-4C>G rs587781820
NM_000267.3(NF1):c.1264G>A (p.Ala422Thr) rs786202145
NM_000267.3(NF1):c.1309G>T (p.Val437Phe) rs1555611574
NM_000267.3(NF1):c.1310T>A (p.Val437Asp) rs876658642
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.1330G>C (p.Gly444Arg) rs1162173842
NM_000267.3(NF1):c.1342C>T (p.His448Tyr) rs1131691257
NM_000267.3(NF1):c.134A>G (p.Asn45Ser) rs753189381
NM_000267.3(NF1):c.1352T>C (p.Val451Ala) rs747466938
NM_000267.3(NF1):c.1356A>C (p.Gln452His) rs1324833228
NM_000267.3(NF1):c.1358G>T (p.Gly453Val) rs876660915
NM_000267.3(NF1):c.1370A>T (p.His457Leu) rs786202763
NM_000267.3(NF1):c.1371C>A (p.His457Gln) rs1318894606
NM_000267.3(NF1):c.1376C>A (p.Ala459Glu) rs1131691070
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>A rs199999754
NM_000267.3(NF1):c.1392+5G>T rs199999754
NM_000267.3(NF1):c.1392+5_1392+6delinsTT rs587782851
NM_000267.3(NF1):c.1392G>A (p.Pro464=) rs201604273
NM_000267.3(NF1):c.1410A>C (p.Glu470Asp) rs786203090
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.1439A>C (p.Lys480Thr) rs587781675
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.1472A>G (p.Tyr491Cys) rs199474757
NM_000267.3(NF1):c.149A>G (p.Lys50Arg) rs1555604907
NM_000267.3(NF1):c.1529A>G (p.Asn510Ser) rs876660091
NM_000267.3(NF1):c.1538A>G (p.Lys513Arg) rs876659336
NM_000267.3(NF1):c.1541A>C (p.Gln514Pro) rs775369084
NM_000267.3(NF1):c.1549G>A (p.Glu517Lys) rs587778548
NM_000267.3(NF1):c.1553C>T (p.Thr518Ile) rs587782696
NM_000267.3(NF1):c.1588G>A (p.Val530Ile) rs145191978
NM_000267.3(NF1):c.1609C>T (p.His537Tyr) rs786203860
NM_000267.3(NF1):c.1620G>T (p.Glu540Asp) rs766748586
NM_000267.3(NF1):c.1621A>G (p.Ile541Val) rs876660632
NM_000267.3(NF1):c.1642-4T>C rs786202197
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.1662G>T (p.Gln554His) rs147594815
NM_000267.3(NF1):c.169G>A (p.Gly57Ser) rs779727341
NM_000267.3(NF1):c.1721+5A>G rs876658961
NM_000267.3(NF1):c.1722-5T>C rs1458980212
NM_000267.3(NF1):c.1756A>C (p.Thr586Pro) rs876659242
NM_000267.3(NF1):c.176C>G (p.Thr59Ser) rs876659891
NM_000267.3(NF1):c.178A>G (p.Thr60Ala) rs546729596
NM_000267.3(NF1):c.179C>G (p.Thr60Ser) rs1007047958
NM_000267.3(NF1):c.1801C>T (p.Arg601Trp) rs587782592
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.1855A>G (p.Arg619Gly) rs587781821
NM_000267.3(NF1):c.1865G>A (p.Cys622Tyr) rs535869486
NM_000267.3(NF1):c.1870T>C (p.Phe624Leu) rs765060733
NM_000267.3(NF1):c.1891G>A (p.Gly631Arg) rs757424379
NM_000267.3(NF1):c.1892G>A (p.Gly631Glu) rs876660272
NM_000267.3(NF1):c.1894T>A (p.Cys632Ser) rs370789267
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.1921A>G (p.Ser641Gly) rs769154907
NM_000267.3(NF1):c.1923T>A (p.Ser641Arg) rs1555613576
NM_000267.3(NF1):c.1936G>T (p.Asp646Tyr) rs142079728
NM_000267.3(NF1):c.1939C>T (p.His647Tyr) rs776251084
NM_000267.3(NF1):c.1954C>T (p.Arg652Cys) rs786202436
NM_000267.3(NF1):c.1964G>C (p.Gly655Ala) rs1555613596
NM_000267.3(NF1):c.1972C>T (p.Leu658Phe) rs763901597
NM_000267.3(NF1):c.1975C>T (p.Arg659Trp) rs757512142
NM_000267.3(NF1):c.1976G>A (p.Arg659Gln) rs151138158
NM_000267.3(NF1):c.1987G>A (p.Gly663Arg) rs140653372
NM_000267.3(NF1):c.1996T>C (p.Ser666Pro) rs876659281
NM_000267.3(NF1):c.1996T>G (p.Ser666Ala) rs876659281
NM_000267.3(NF1):c.1999A>G (p.Met667Val) rs749833271
NM_000267.3(NF1):c.2001+3C>G rs876659863
NM_000267.3(NF1):c.2002-5C>G rs1165625614
NM_000267.3(NF1):c.200A>G (p.Asn67Ser) rs375038808
NM_000267.3(NF1):c.2012C>G (p.Ala671Gly) rs760900648
NM_000267.3(NF1):c.2014G>A (p.Gly672Arg) rs786202632
NM_000267.3(NF1):c.2015G>T (p.Gly672Val) rs371817372
NM_000267.3(NF1):c.2023G>A (p.Gly675Arg) rs779546178
NM_000267.3(NF1):c.2032C>A (p.Pro678Thr) rs758691069
NM_000267.3(NF1):c.2032C>G (p.Pro678Ala) rs758691069
NM_000267.3(NF1):c.2032C>T (p.Pro678Ser) rs758691069
NM_000267.3(NF1):c.204+4A>G rs1555604946
NM_000267.3(NF1):c.2042G>A (p.Arg681Gln) rs786201768
NM_000267.3(NF1):c.2045A>C (p.Gln682Pro) rs1304889984
NM_000267.3(NF1):c.2054C>G (p.Thr685Ser) rs876658190
NM_000267.3(NF1):c.2065G>A (p.Val689Met) rs771784652
NM_000267.3(NF1):c.2072T>C (p.Leu691Pro) rs1131691132
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.2098A>G (p.Thr700Ala) rs1555613801
NM_000267.3(NF1):c.2107G>A (p.Val703Ile) rs876659251
NM_000267.3(NF1):c.2116G>A (p.Ala706Thr) rs876658232
NM_000267.3(NF1):c.2125T>C (p.Cys709Arg) rs1131691095
NM_000267.3(NF1):c.212T>C (p.Phe71Ser) rs752396270
NM_000267.3(NF1):c.2131C>T (p.Arg711Cys) rs1400902839
NM_000267.3(NF1):c.2158C>T (p.Arg720Trp) rs759679443
NM_000267.3(NF1):c.2188A>C (p.Asn730His) rs758893131
NM_000267.3(NF1):c.2188A>T (p.Asn730Tyr) rs758893131
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.2221T>A (p.Phe741Ile) rs533819802
NM_000267.3(NF1):c.2224G>T (p.Ala742Ser) rs587781896
NM_000267.3(NF1):c.2230G>A (p.Val744Ile) rs786201833
NM_000267.3(NF1):c.2233A>G (p.Ser745Gly) rs786201865
NM_000267.3(NF1):c.2239A>G (p.Met747Val) rs1471232737
NM_000267.3(NF1):c.2244G>A (p.Met748Ile) rs786202478
NM_000267.3(NF1):c.2248A>G (p.Thr750Ala) rs748064845
NM_000267.3(NF1):c.2251+5A>G rs786201934
NM_000267.3(NF1):c.2251+5A>T rs786201934
NM_000267.3(NF1):c.2278A>T (p.Met760Leu) rs1191883088
NM_000267.3(NF1):c.2281G>C (p.Ala761Pro) rs786202504
NM_000267.3(NF1):c.2282C>T (p.Ala761Val) rs746850653
NM_000267.3(NF1):c.2294G>A (p.Arg765His) rs199474777
NM_000267.3(NF1):c.2306C>G (p.Pro769Arg) rs786203543
NM_000267.3(NF1):c.2312C>T (p.Ala771Val) rs1555613928
NM_000267.3(NF1):c.231A>T (p.Lys77Asn) rs373563053
NM_000267.3(NF1):c.2325+4T>C rs1555613934
NM_000267.3(NF1):c.2326-3T>G rs876658946
NM_000267.3(NF1):c.2326-5T>A rs1131691086
NM_000267.3(NF1):c.2326-5T>C rs1131691086
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>C (p.His781Pro) rs199474763
NM_000267.3(NF1):c.2342A>T (p.His781Leu) rs199474763
NM_000267.3(NF1):c.2343T>G (p.His781Gln) rs774248644
NM_000267.3(NF1):c.234T>A (p.Asn78Lys) rs876658354
NM_000267.3(NF1):c.2356C>A (p.Gln786Lys) rs1555613999
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.2390C>T (p.Ala797Val) rs1181350360
NM_000267.3(NF1):c.239A>C (p.Tyr80Ser) rs4795581
NM_000267.3(NF1):c.239A>G (p.Tyr80Cys) rs4795581
NM_000267.3(NF1):c.2405G>A (p.Gly802Asp) rs752404130
NM_000267.3(NF1):c.2408A>G (p.Gln803Arg) rs786202976
NM_000267.3(NF1):c.2409+5G>A rs763688567
NM_000267.3(NF1):c.2410G>C (p.Ala804Pro) rs761109477
NM_000267.3(NF1):c.241C>A (p.Leu81Ile) rs587782772
NM_000267.3(NF1):c.2434A>C (p.Ile812Leu) rs587781899
NM_000267.3(NF1):c.2434A>G (p.Ile812Val) rs587781899
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.2447G>A (p.Arg816Gln) rs762709897
NM_000267.3(NF1):c.2456A>C (p.His819Pro) rs786202297
NM_000267.3(NF1):c.2458G>A (p.Val820Met) rs761408020
NM_000267.3(NF1):c.2476A>C (p.Ile826Leu) rs767069721
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.2555T>G (p.Leu852Arg) rs876659440
NM_000267.3(NF1):c.2564G>C (p.Arg855Thr) rs786203716
NM_000267.3(NF1):c.2570A>G (p.Asn857Ser) rs1060500299
NM_000267.3(NF1):c.2572T>C (p.Ser858Pro) rs587778550
NM_000267.3(NF1):c.2573C>G (p.Ser858Cys) rs369493270
NM_000267.3(NF1):c.2576G>C (p.Gly859Ala) rs876659829
NM_000267.3(NF1):c.2581G>C (p.Ala861Pro) rs768425956
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.2594C>T (p.Pro865Leu) rs786203084
NM_000267.3(NF1):c.2597C>T (p.Pro866Leu) rs767159555
NM_000267.3(NF1):c.2617C>T (p.Arg873Cys) rs199474739
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.2629A>G (p.Met877Val) rs764950557
NM_000267.3(NF1):c.2633T>C (p.Ile878Thr) rs372049168
NM_000267.3(NF1):c.2643G>A (p.Met881Ile) rs376666221
NM_000267.3(NF1):c.2658C>G (p.Asn886Lys) rs781549970
NM_000267.3(NF1):c.2668C>A (p.Pro890Thr) rs771012891
NM_000267.3(NF1):c.2671G>C (p.Val891Leu) rs1060500256
NM_000267.3(NF1):c.2674A>T (p.Ser892Cys) rs746324091
NM_000267.3(NF1):c.2683A>G (p.Met895Val) rs876659129
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.2747A>G (p.Asn916Ser) rs765043916
NM_000267.3(NF1):c.274A>G (p.Lys92Glu) rs1555605396
NM_000267.3(NF1):c.2794A>T (p.Met932Leu) rs886052800
NM_000267.3(NF1):c.2795T>C (p.Met932Thr) rs876659779
NM_000267.3(NF1):c.2803A>C (p.Asn935His) rs786201823
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.2821A>G (p.Ile941Val) rs876659888
NM_000267.3(NF1):c.2825G>C (p.Ser942Thr) rs1555614350
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.2885A>G (p.Glu962Gly) rs876659474
NM_000267.3(NF1):c.2896G>A (p.Ala966Thr) rs876658849
NM_000267.3(NF1):c.2899A>G (p.Ile967Val) rs876660279
NM_000267.3(NF1):c.2902A>G (p.Met968Val) rs587781499
NM_000267.3(NF1):c.2921A>G (p.Asn974Ser) rs557875547
NM_000267.3(NF1):c.2941G>C (p.Glu981Gln) rs1555614449
NM_000267.3(NF1):c.2957C>T (p.Ala986Val) rs876659417
NM_000267.3(NF1):c.2962A>G (p.Ile988Val) rs587781936
NM_000267.3(NF1):c.2968A>C (p.Thr990Pro) rs876658299
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.2999G>T (p.Arg1000Leu) rs753082620
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.3038C>T (p.Thr1013Met) rs786203132
NM_000267.3(NF1):c.304A>G (p.Met102Val) rs756370324
NM_000267.3(NF1):c.3051A>C (p.Gln1017His) rs201891488
NM_000267.3(NF1):c.3062T>G (p.Val1021Gly) rs1355411201
NM_000267.3(NF1):c.3070G>A (p.Ala1024Thr) rs786203657
NM_000267.3(NF1):c.3074G>A (p.Arg1025Lys) rs876659876
NM_000267.3(NF1):c.3103A>G (p.Met1035Val) rs771694969
NM_000267.3(NF1):c.3114-3T>C rs773097190
NM_000267.3(NF1):c.3114-4A>G rs201550230
NM_000267.3(NF1):c.3114-4A>T rs201550230
NM_000267.3(NF1):c.3114G>C (p.Arg1038Ser) rs1555614616
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.3185A>T (p.Lys1062Ile) rs1314168961
NM_000267.3(NF1):c.3197+3A>G rs1359512152
NM_000267.3(NF1):c.3217A>G (p.Met1073Val) rs199474740
NM_000267.3(NF1):c.3218T>G (p.Met1073Arg) rs1555614827
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.3315-3C>T rs752318318
NM_000267.3(NF1):c.3330T>A (p.Phe1110Leu) rs1256152851
NM_000267.3(NF1):c.3350G>A (p.Cys1117Tyr) rs876660762
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.3362A>C (p.Glu1121Ala) rs757222815
NM_000267.3(NF1):c.3362A>G (p.Glu1121Gly) rs757222815
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.3394C>T (p.Arg1132Cys) rs587781725
NM_000267.3(NF1):c.3395G>A (p.Arg1132His) rs778920556
NM_000267.3(NF1):c.3402G>A (p.Met1134Ile) rs587782701
NM_000267.3(NF1):c.3436G>A (p.Val1146Ile) rs201047812
NM_000267.3(NF1):c.3446T>G (p.Met1149Arg) rs1131691121
NM_000267.3(NF1):c.3461A>G (p.Asn1154Ser) rs371544233
NM_000267.3(NF1):c.3469G>A (p.Val1157Ile) rs375845704
NM_000267.3(NF1):c.3478G>T (p.Gly1160Cys) rs786202815
NM_000267.3(NF1):c.3484A>G (p.Met1162Val) rs773968270
NM_000267.3(NF1):c.3485T>G (p.Met1162Arg) rs200732832
NM_000267.3(NF1):c.348A>T (p.Glu116Asp) rs1231174547
NM_000267.3(NF1):c.3490T>G (p.Ser1164Ala) rs750303863
NM_000267.3(NF1):c.3496+5G>C rs786202564
NM_000267.3(NF1):c.3497-5A>G rs876660405
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.3538A>G (p.Met1180Val) rs786203658
NM_000267.3(NF1):c.355C>T (p.His119Tyr) rs1555606066
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.3604G>T (p.Ala1202Ser) rs146641724
NM_000267.3(NF1):c.364C>T (p.His122Tyr) rs587782107
NM_000267.3(NF1):c.3653A>G (p.Gln1218Arg) rs876659541
NM_000267.3(NF1):c.367A>G (p.Thr123Ala) rs587781757
NM_000267.3(NF1):c.3689T>C (p.Val1230Ala) rs587782820
NM_000267.3(NF1):c.3694C>T (p.Pro1232Ser) rs1482085668
NM_000267.3(NF1):c.3711T>G (p.Asp1237Glu) rs876659917
NM_000267.3(NF1):c.3722G>A (p.Arg1241Gln) rs543387071
NM_000267.3(NF1):c.3733A>G (p.Thr1245Ala) rs786203616
NM_000267.3(NF1):c.3733A>T (p.Thr1245Ser) rs786203616
NM_000267.3(NF1):c.373C>G (p.Arg125Gly) rs876659418
NM_000267.3(NF1):c.373C>T (p.Arg125Cys) rs876659418
NM_000267.3(NF1):c.3748C>T (p.Arg1250Trp) rs1452005208
NM_000267.3(NF1):c.3749G>A (p.Arg1250Gln) rs199474765
NM_000267.3(NF1):c.374G>A (p.Arg125His) rs149003051
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.3779T>C (p.Met1260Thr) rs1555615463
NM_000267.3(NF1):c.378A>C (p.Glu126Asp) rs786201914
NM_000267.3(NF1):c.3796G>C (p.Glu1266Gln) rs876660667
NM_000267.3(NF1):c.3811A>G (p.Met1271Val) rs746583007
NM_000267.3(NF1):c.3812T>C (p.Met1271Thr) rs876659801
NM_000267.3(NF1):c.3813G>A (p.Met1271Ile) rs876658565
NM_000267.3(NF1):c.3842C>G (p.Ala1281Gly) rs1060500341
NM_000267.3(NF1):c.3867C>G (p.Phe1289Leu) rs138186428
NM_000267.3(NF1):c.3868A>G (p.Lys1290Glu) rs876658521
NM_000267.3(NF1):c.3870+4T>C rs1555615499
NM_000267.3(NF1):c.3871-4G>A rs558421445
NM_000267.3(NF1):c.3871-4G>C rs558421445
NM_000267.3(NF1):c.3875A>G (p.Tyr1292Cys) rs1060500243
NM_000267.3(NF1):c.3883A>G (p.Thr1295Ala) rs143836226
NM_000267.3(NF1):c.3893A>G (p.Gln1298Arg) rs786203509
NM_000267.3(NF1):c.389A>G (p.His130Arg) rs876660277
NM_000267.3(NF1):c.389A>T (p.His130Leu) rs876660277
NM_000267.3(NF1):c.3906T>G (p.Asp1302Glu) rs549058591
NM_000267.3(NF1):c.3921T>G (p.Ile1307Met) rs876660805
NM_000267.3(NF1):c.3929C>A (p.Thr1310Lys) rs1555615554
NM_000267.3(NF1):c.3932C>T (p.Ser1311Phe) rs587782894
NM_000267.3(NF1):c.3953G>A (p.Ser1318Asn) rs587781900
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.3965A>T (p.Asp1322Val) rs1555615565
NM_000267.3(NF1):c.3970A>G (p.Thr1324Ala) rs189522993
NM_000267.3(NF1):c.3975-4G>A rs760207624
NM_000267.3(NF1):c.3976T>A (p.Leu1326Ile) rs765957571
NM_000267.3(NF1):c.3978A>T (p.Leu1326Phe) rs876660506
NM_000267.3(NF1):c.4000G>A (p.Glu1334Lys) rs878853892
NM_000267.3(NF1):c.4004A>G (p.Asn1335Ser) rs1555617304
NM_000267.3(NF1):c.4009C>T (p.Arg1337Trp) rs146306756
NM_000267.3(NF1):c.4015C>G (p.Leu1339Val) rs876660466
NM_000267.3(NF1):c.4018C>T (p.Leu1340Phe) rs876658268
NM_000267.3(NF1):c.4022A>T (p.Gln1341Leu) rs1555617325
NM_000267.3(NF1):c.403C>T (p.Arg135Trp) rs775191883
NM_000267.3(NF1):c.4043A>G (p.His1348Arg) rs786201844
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.4055G>C (p.Ser1352Thr) rs876660908
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_4075delinsAA (p.Pro1359Thr) rs1555617362
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+3815G>A rs764877783
NM_000267.3(NF1):c.4110+3A>C rs774669878
NM_000267.3(NF1):c.4110+3A>G rs774669878
NM_000267.3(NF1):c.4110+4T>C rs587781700
NM_000267.3(NF1):c.4110G>A (p.Gln1370=) rs1135402854
NM_000267.3(NF1):c.4111-3T>C rs786202602
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.4144G>A (p.Gly1382Ser) rs138227618
NM_000267.3(NF1):c.4156A>G (p.Ser1386Gly) rs587781755
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.4164G>C (p.Met1388Ile) rs786201895
NM_000267.3(NF1):c.4184C>T (p.Pro1395Leu) rs1555618521
NM_000267.3(NF1):c.4186G>T (p.Ala1396Ser) rs587781941
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.4202A>G (p.Tyr1401Cys) rs1555618544
NM_000267.3(NF1):c.4214T>C (p.Ile1405Thr) rs1555618549
NM_000267.3(NF1):c.4243G>A (p.Glu1415Lys) rs876660428
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.4262T>G (p.Met1421Arg) rs1131691097
NM_000267.3(NF1):c.4273C>T (p.Leu1425Phe) rs1555618639
NM_000267.3(NF1):c.4278G>C (p.Gln1426His) rs876660206
NM_000267.3(NF1):c.4289A>G (p.Asn1430Ser) rs199474754
NM_000267.3(NF1):c.4294G>A (p.Val1432Ile) rs199474755
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.4315C>T (p.His1439Tyr) rs377295676
NM_000267.3(NF1):c.4322G>A (p.Arg1441Gln) rs370852681
NM_000267.3(NF1):c.4331A>G (p.Asn1444Ser) rs786202492
NM_000267.3(NF1):c.4337T>G (p.Phe1446Cys) rs1555618685
NM_000267.3(NF1):c.4339G>A (p.Val1447Met) rs876660320
NM_000267.3(NF1):c.433C>G (p.Leu145Val) rs786203460
NM_000267.3(NF1):c.4346G>A (p.Ser1449Asn) rs876660093
NM_000267.3(NF1):c.4349A>G (p.Asn1450Ser) rs876658250
NM_000267.3(NF1):c.434T>A (p.Leu145His) rs199474734
NM_000267.3(NF1):c.4354G>A (p.Asp1452Asn) rs587781790
NM_000267.3(NF1):c.4358C>T (p.Ala1453Val) rs587781553
NM_000267.3(NF1):c.4364G>A (p.Arg1455His) rs1555618691
NM_000267.3(NF1):c.4369T>G (p.Phe1457Val) rs1555618802
NM_000267.3(NF1):c.4382T>C (p.Ile1461Thr) rs746994734
NM_000267.3(NF1):c.4383A>G (p.Ile1461Met) rs876658776
NM_000267.3(NF1):c.4399A>G (p.Thr1467Ala) rs876660162
NM_000267.3(NF1):c.439T>C (p.Cys147Arg) rs1555606104
NM_000267.3(NF1):c.4409C>T (p.Ala1470Val) rs876658334
NM_000267.3(NF1):c.4423C>T (p.Leu1475Phe) rs1555618823
NM_000267.3(NF1):c.4426T>C (p.Ser1476Pro) rs763266925
NM_000267.3(NF1):c.4432A>C (p.Ile1478Leu) rs764654925
NM_000267.3(NF1):c.4432A>G (p.Ile1478Val) 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.4441G>A (p.Gly1481Ser) rs876659607
NM_000267.3(NF1):c.4444A>C (p.Asn1482His) rs1555618837
NM_000267.3(NF1):c.4445A>G (p.Asn1482Ser) rs587781445
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.4463G>A (p.Arg1488His) rs546073780
NM_000267.3(NF1):c.4473G>C (p.Trp1491Cys) rs878853897
NM_000267.3(NF1):c.4483G>C (p.Glu1495Gln) rs786203390
NM_000267.3(NF1):c.4510A>G (p.Asn1504Asp) rs1555618861
NM_000267.3(NF1):c.4514+3A>G rs1060500246
NM_000267.3(NF1):c.4514+4A>G rs1555618863
NM_000267.3(NF1):c.4515-5T>C rs772759508
NM_000267.3(NF1):c.4516G>T (p.Asp1506Tyr) rs587781542
NM_000267.3(NF1):c.4538G>A (p.Arg1513Gln) rs867955218
NM_000267.3(NF1):c.4570T>C (p.Tyr1524His) rs1555619019
NM_000267.3(NF1):c.4574T>C (p.Leu1525Pro) rs876660760
NM_000267.3(NF1):c.4579C>T (p.Pro1527Ser) rs876658396
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.4607C>G (p.Thr1536Arg) rs876660065
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.464G>A (p.Ser155Asn) rs1555606113
NM_000267.3(NF1):c.4661+3A>G rs781147524
NM_000267.3(NF1):c.466C>T (p.Arg156Cys) rs755890242
NM_000267.3(NF1):c.467G>T (p.Arg156Leu) rs754096545
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.4733C>G (p.Ser1578Cys) rs1555619407
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.4750A>G (p.Ile1584Val) rs199474766
NM_000267.3(NF1):c.475A>C (p.Thr159Pro) rs371192107
NM_000267.3(NF1):c.475A>G (p.Thr159Ala) rs371192107
NM_000267.3(NF1):c.4762G>A (p.Val1588Ile) rs876658973
NM_000267.3(NF1):c.4763T>C (p.Val1588Ala) rs876660303
NM_000267.3(NF1):c.4769G>A (p.Arg1590Gln) rs876659197
NM_000267.3(NF1):c.4772+5G>C rs786201306
NM_000267.3(NF1):c.4772G>A (p.Arg1591Lys) rs1555619423
NM_000267.3(NF1):c.4773-3T>C rs372460369
NM_000267.3(NF1):c.4773G>T (p.Arg1591Ser) rs1555533268
NM_000267.3(NF1):c.479+3T>G rs876658752
NM_000267.3(NF1):c.4793A>G (p.Asn1598Ser) rs1466167635
NM_000267.3(NF1):c.4796G>A (p.Gly1599Asp) rs587782213
NM_000267.3(NF1):c.4807A>G (p.Ile1603Val) rs1555533280
NM_000267.3(NF1):c.4841A>G (p.Tyr1614Cys) rs786202866
NM_000267.3(NF1):c.484C>G (p.Gln162Glu) rs1555607073
NM_000267.3(NF1):c.4862T>A (p.Val1621Glu) rs1555533301
NM_000267.3(NF1):c.4879A>G (p.Thr1627Ala) rs770558820
NM_000267.3(NF1):c.4880C>T (p.Thr1627Ile) rs376655102
NM_000267.3(NF1):c.4885C>T (p.Pro1629Ser) rs1402198290
NM_000267.3(NF1):c.4894C>T (p.Arg1632Cys) rs876659922
NM_000267.3(NF1):c.4895G>A (p.Arg1632His) rs763413441
NM_000267.3(NF1):c.4912C>G (p.Leu1638Val) rs786203709
NM_000267.3(NF1):c.493A>G (p.Thr165Ala) rs786203186
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.494C>T (p.Thr165Ile) 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>A (p.Ala1655Thr) rs756450772
NM_000267.3(NF1):c.4963G>T (p.Ala1655Ser) rs756450772
NM_000267.3(NF1):c.4969T>C (p.Tyr1657His) rs786203241
NM_000267.3(NF1):c.4976A>G (p.Tyr1659Cys) rs758361270
NM_000267.3(NF1):c.5001G>T (p.Glu1667Asp) rs587781693
NM_000267.3(NF1):c.5016T>G (p.His1672Gln) rs1555533365
NM_000267.3(NF1):c.5021G>A (p.Arg1674Gln) rs1555533367
NM_000267.3(NF1):c.5024T>C (p.Leu1675Pro) rs745489489
NM_000267.3(NF1):c.5029A>T (p.Thr1677Ser) rs876659017
NM_000267.3(NF1):c.5030C>G (p.Thr1677Ser) rs769469854
NM_000267.3(NF1):c.5038A>C (p.Lys1680Gln) rs876659279
NM_000267.3(NF1):c.5045G>A (p.Ser1682Asn) rs876660159
NM_000267.3(NF1):c.5051G>A (p.Arg1684Lys) rs876660487
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.5063T>C (p.Ile1688Thr) rs876660316
NM_000267.3(NF1):c.5092A>G (p.Ile1698Val) rs1434439252
NM_000267.3(NF1):c.5097G>T (p.Glu1699Asp) rs773378630
NM_000267.3(NF1):c.5106A>T (p.Gln1702His) rs864622372
NM_000267.3(NF1):c.5126C>G (p.Thr1709Ser) rs772831692
NM_000267.3(NF1):c.5128T>G (p.Leu1710Val) rs876658602
NM_000267.3(NF1):c.512A>G (p.Asn171Ser) rs767500770
NM_000267.3(NF1):c.5152G>C (p.Val1718Leu) rs876659956
NM_000267.3(NF1):c.5158C>A (p.His1720Asn) rs780529277
NM_000267.3(NF1):c.5158C>T (p.His1720Tyr) 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.5192A>G (p.Lys1731Arg) rs864622373
NM_000267.3(NF1):c.5194G>A (p.Val1732Ile) rs148540952
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.5226A>G (p.Gln1742=) rs199703296
NM_000267.3(NF1):c.5227G>A (p.Val1743Ile) rs778427434
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.5243G>A (p.Arg1748Gln) rs1555533559
NM_000267.3(NF1):c.5248A>G (p.Lys1750Glu) rs1131691103
NM_000267.3(NF1):c.5266G>A (p.Val1756Ile) rs876658562
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.529A>G (p.Ile177Val) rs766213678
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.5318T>C (p.Val1773Ala) rs142867979
NM_000267.3(NF1):c.5344A>G (p.Ile1782Val) rs559910904
NM_000267.3(NF1):c.5360C>A (p.Thr1787Lys) rs760649828
NM_000267.3(NF1):c.5360C>T (p.Thr1787Met) rs760649828
NM_000267.3(NF1):c.5363C>T (p.Pro1788Leu) rs587782220
NM_000267.3(NF1):c.5377C>T (p.His1793Tyr) rs1036523228
NM_000267.3(NF1):c.5387G>T (p.Cys1796Phe) rs1555533589
NM_000267.3(NF1):c.5395A>C (p.Ile1799Leu) rs786202459
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.5419C>T (p.Arg1807Trp) rs1555533609
NM_000267.3(NF1):c.541C>G (p.Gln181Glu) rs753529924
NM_000267.3(NF1):c.5420G>A (p.Arg1807Gln) rs876660298
NM_000267.3(NF1):c.5440C>G (p.Gln1814Glu) rs786202177
NM_000267.3(NF1):c.5441A>G (p.Gln1814Arg) rs876660025
NM_000267.3(NF1):c.5447_5455del (p.Asp1816_Pro1819delinsAla) rs876660622
NM_000267.3(NF1):c.5450C>G (p.Ser1817Cys) rs368654378
NM_000267.3(NF1):c.5458C>A (p.Gln1820Lys) rs786203570
NM_000267.3(NF1):c.5460A>T (p.Gln1820His) rs151046636
NM_000267.3(NF1):c.5462A>G (p.His1821Arg) rs876660928
NM_000267.3(NF1):c.5477C>G (p.Pro1826Arg) rs1555533631
NM_000267.3(NF1):c.5509G>A (p.Ala1837Thr) rs786203416
NM_000267.3(NF1):c.5514A>C (p.Leu1838Phe) rs876659180
NM_000267.3(NF1):c.5519A>G (p.Asn1840Ser) rs1555533647
NM_000267.3(NF1):c.551A>G (p.Asn184Ser) rs876659849
NM_000267.3(NF1):c.5579C>A (p.Thr1860Asn) rs876658349
NM_000267.3(NF1):c.5579C>T (p.Thr1860Ile) rs876658349
NM_000267.3(NF1):c.5587T>G (p.Phe1863Val) rs1060500378
NM_000267.3(NF1):c.5642C>T (p.Ala1881Val) rs1465309384
NM_000267.3(NF1):c.5656T>C (p.Phe1886Leu) rs876660040
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.5668A>G (p.Ile1890Val) rs146523293
NM_000267.3(NF1):c.5678C>A (p.Thr1893Lys) rs1555533873
NM_000267.3(NF1):c.5690A>G (p.Asn1897Ser) rs534249104
NM_000267.3(NF1):c.5705C>T (p.Thr1902Met) rs786203824
NM_000267.3(NF1):c.5724G>C (p.Glu1908Asp) rs786202591
NM_000267.3(NF1):c.572A>C (p.Lys191Thr) rs1555607113
NM_000267.3(NF1):c.5749A>G (p.Ser1917Gly) rs1555533885
NM_000267.3(NF1):c.575G>A (p.Arg192Gln) rs587781670
NM_000267.3(NF1):c.5803C>A (p.Leu1935Ile) rs747678243
NM_000267.3(NF1):c.5824_5826del (p.Asn1942del) rs1555534403
NM_000267.3(NF1):c.5843A>T (p.Gln1948Leu) rs143502927
NM_000267.3(NF1):c.584A>G (p.Lys195Arg) rs587778552
NM_000267.3(NF1):c.5867A>G (p.Lys1956Arg) rs1555534416
NM_000267.3(NF1):c.586G>A (p.Glu196Lys) rs876659079
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.5878A>G (p.Met1960Val) rs762935987
NM_000267.3(NF1):c.5884A>G (p.Ile1962Val) rs876658484
NM_000267.3(NF1):c.5888A>G (p.Asn1963Ser) rs764291252
NM_000267.3(NF1):c.5896C>G (p.Gln1966Glu) rs876659070
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+25del rs1555534435
NM_000267.3(NF1):c.5950G>A (p.Asp1984Asn) rs876658702
NM_000267.3(NF1):c.5959G>A (p.Asp1987Asn) rs786201924
NM_000267.3(NF1):c.5974A>G (p.Ser1992Gly) rs876658710
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.6019G>C (p.Ala2007Pro) 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.607G>T (p.Ala203Ser) rs904361724
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.6099G>T (p.Met2033Ile) rs876660651
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.6140C>T (p.Thr2047Ile) rs876659172
NM_000267.3(NF1):c.614A>G (p.Lys205Arg) rs1555608659
NM_000267.3(NF1):c.6167A>T (p.Asp2056Val) rs1555534684
NM_000267.3(NF1):c.6230C>T (p.Ala2077Val) rs764106639
NM_000267.3(NF1):c.6239C>G (p.Pro2080Arg) rs756746198
NM_000267.3(NF1):c.623C>T (p.Ala208Val) rs758624540
NM_000267.3(NF1):c.6247T>C (p.Phe2083Leu) rs876660000
NM_000267.3(NF1):c.6253G>A (p.Val2085Ile) rs755791578
NM_000267.3(NF1):c.6259A>T (p.Thr2087Ser) rs1024333224
NM_000267.3(NF1):c.6260C>T (p.Thr2087Ile) rs876658920
NM_000267.3(NF1):c.6262T>A (p.Phe2088Ile) rs786203627
NM_000267.3(NF1):c.6281C>G (p.Pro2094Arg) rs867091831
NM_000267.3(NF1):c.6302C>T (p.Thr2101Ile) rs878853907
NM_000267.3(NF1):c.6316A>G (p.Ile2106Val) rs200022550
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.6340A>C (p.Thr2114Pro) rs1555534767
NM_000267.3(NF1):c.6361A>C (p.Ser2121Arg) rs1135402886
NM_000267.3(NF1):c.6362G>A (p.Ser2121Asn) rs876658896
NM_000267.3(NF1):c.6364+5G>A rs1060500311
NM_000267.3(NF1):c.6365-3C>T rs374014162
NM_000267.3(NF1):c.6398C>T (p.Thr2133Ile) rs876658495
NM_000267.3(NF1):c.6472C>T (p.Arg2158Cys) rs878853908
NM_000267.3(NF1):c.6500C>T (p.Ser2167Phe) rs1555534877
NM_000267.3(NF1):c.6523A>G (p.Thr2175Ala) rs372169109
NM_000267.3(NF1):c.6529G>A (p.Ala2177Thr) rs1555534882
NM_000267.3(NF1):c.6553A>G (p.Thr2185Ala) rs781167415
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.6579+4T>C rs587781687
NM_000267.3(NF1):c.6579G>A (p.Glu2193=) rs876660207
NM_000267.3(NF1):c.6580-4T>C rs1555534908
NM_000267.3(NF1):c.6586A>G (p.Met2196Val) rs876658255
NM_000267.3(NF1):c.6594T>G (p.Asp2198Glu) rs786203831
NM_000267.3(NF1):c.6601A>G (p.Thr2201Ala) rs745945481
NM_000267.3(NF1):c.6602C>T (p.Thr2201Met) rs369803831
NM_000267.3(NF1):c.6604T>C (p.Cys2202Arg) rs1192120725
NM_000267.3(NF1):c.6608A>G (p.Lys2203Arg) rs749567006
NM_000267.3(NF1):c.6618C>A (p.Asp2206Glu) rs876659371
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.6641+3A>G rs375560135
NM_000267.3(NF1):c.6641+4T>C rs1555534930
NM_000267.3(NF1):c.6650T>C (p.Phe2217Ser) rs1555534947
NM_000267.3(NF1):c.665A>C (p.Asn222Thr) rs587781709
NM_000267.3(NF1):c.6695G>A (p.Gly2232Glu) rs876659295
NM_000267.3(NF1):c.6710G>A (p.Arg2237Gln) rs786202030
NM_000267.3(NF1):c.6716C>T (p.Ser2239Phe) rs876658775
NM_000267.3(NF1):c.6718C>T (p.His2240Tyr) rs750869272
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.6738A>G (p.Ile2246Met) rs876659381
NM_000267.3(NF1):c.6742C>T (p.Arg2248Cys) rs1555534961
NM_000267.3(NF1):c.6743G>A (p.Arg2248His) rs562367786
NM_000267.3(NF1):c.6755A>G (p.Lys2252Arg) rs1060500344
NM_000267.3(NF1):c.6756+4C>T rs755135948
NM_000267.3(NF1):c.6756+5C>A rs876659499
NM_000267.3(NF1):c.6774A>C (p.Leu2258Phe) rs144287929
NM_000267.3(NF1):c.6788C>T (p.Thr2263Ile) rs747881072
NM_000267.3(NF1):c.67A>G (p.Ile23Val) rs542824372
NM_000267.3(NF1):c.6808A>C (p.Ile2270Leu) rs876659722
NM_000267.3(NF1):c.6808A>T (p.Ile2270Leu) rs876659722
NM_000267.3(NF1):c.680A>T (p.Tyr227Phe) rs1555608742
NM_000267.3(NF1):c.6818C>T (p.Thr2273Ile) rs786201902
NM_000267.3(NF1):c.6837A>C (p.Lys2279Asn) rs786203861
NM_000267.3(NF1):c.6859-3C>T rs876659438
NM_000267.3(NF1):c.6863C>T (p.Ser2288Leu) rs1555535159
NM_000267.3(NF1):c.686A>G (p.Asp229Gly) rs1060500285
NM_000267.3(NF1):c.6892G>A (p.Ala2298Thr) rs786203881
NM_000267.3(NF1):c.6917A>T (p.Glu2306Val) rs1555535175
NM_000267.3(NF1):c.6940A>G (p.Thr2314Ala) rs370209920
NM_000267.3(NF1):c.6943G>A (p.Ala2315Thr) rs587781428
NM_000267.3(NF1):c.6943G>T (p.Ala2315Ser) rs587781428
NM_000267.3(NF1):c.694A>T (p.Thr232Ser) rs876660027
NM_000267.3(NF1):c.6964C>T (p.His2322Tyr) rs781578248
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.6994_6996del (p.Asp2332del) rs786203558
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.7002T>G (p.Ser2334Arg) rs1567620376
NM_000267.3(NF1):c.7004C>T (p.Pro2335Leu) rs1555535402
NM_000267.3(NF1):c.7007A>G (p.Glu2336Gly) rs786203596
NM_000267.3(NF1):c.7024A>G (p.Ile2342Val) rs137966859
NM_000267.3(NF1):c.702_703inv (p.Tyr235His) rs1555608753
NM_000267.3(NF1):c.703T>C (p.Tyr235His) rs864622465
NM_000267.3(NF1):c.7045C>T (p.His2349Tyr) rs587781479
NM_000267.3(NF1):c.7085A>G (p.Asn2362Ser) rs146296921
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>C rs748245325
NM_000267.3(NF1):c.7127-5T>G rs748245325
NM_000267.3(NF1):c.7148C>T (p.Ala2383Val) rs771706364
NM_000267.3(NF1):c.7150A>G (p.Ile2384Val) rs565708398
NM_000267.3(NF1):c.7162A>G (p.Thr2388Ala) rs1555536021
NM_000267.3(NF1):c.7178A>G (p.His2393Arg) rs876659855
NM_000267.3(NF1):c.7199A>G (p.Asn2400Ser) rs774339063
NM_000267.3(NF1):c.7208G>T (p.Arg2403Ile) rs1555536029
NM_000267.3(NF1):c.7213T>G (p.Cys2405Gly) rs767059035
NM_000267.3(NF1):c.7226A>C (p.Glu2409Ala) rs876659449
NM_000267.3(NF1):c.7235C>T (p.Thr2412Ile) rs755749772
NM_000267.3(NF1):c.7240A>G (p.Ser2414Gly) rs1555536038
NM_000267.3(NF1):c.7243G>A (p.Val2415Met) rs876659856
NM_000267.3(NF1):c.724A>G (p.Met242Val) rs1555608762
NM_000267.3(NF1):c.7250A>G (p.Tyr2417Cys) rs876660597
NM_000267.3(NF1):c.725T>C (p.Met242Thr) rs1555608765
NM_000267.3(NF1):c.7277_7279AAG[1] (p.Glu2427del) rs587781961
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.7301T>C (p.Leu2434Pro) rs1555536128
NM_000267.3(NF1):c.7305A>C (p.Lys2435Asn) rs201287021
NM_000267.3(NF1):c.7305A>T (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.7318_7320CTT[2] (p.Leu2442del) rs786203184
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.7348G>A (p.Val2450Ile) rs876660126
NM_000267.3(NF1):c.734G>A (p.Cys245Tyr) rs587781869
NM_000267.3(NF1):c.734G>T (p.Cys245Phe) rs587781869
NM_000267.3(NF1):c.7352C>G (p.Pro2451Arg) rs786202184
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.7366C>G (p.Pro2456Ala) rs876658722
NM_000267.3(NF1):c.7372C>T (p.His2458Tyr) rs587782119
NM_000267.3(NF1):c.7375C>T (p.His2459Tyr) rs1555536166
NM_000267.3(NF1):c.7376A>G (p.His2459Arg) rs371151718
NM_000267.3(NF1):c.7379G>T (p.Gly2460Val) rs786202540
NM_000267.3(NF1):c.7383C>A (p.Asp2461Glu) rs876660614
NM_000267.3(NF1):c.7399C>G (p.Leu2467Val) rs876660345
NM_000267.3(NF1):c.7403A>G (p.Lys2468Arg) rs864622249
NM_000267.3(NF1):c.7421C>T (p.Ser2474Phe) rs757245615
NM_000267.3(NF1):c.7424C>G (p.Ser2475Cys) rs371773406
NM_000267.3(NF1):c.7427C>T (p.Pro2476Leu) rs1555536347
NM_000267.3(NF1):c.742A>G (p.Lys248Glu) rs876658252
NM_000267.3(NF1):c.7441G>C (p.Gly2481Arg) rs1555536357
NM_000267.3(NF1):c.7447C>G (p.Leu2483Val) rs876658333
NM_000267.3(NF1):c.7447C>T (p.Leu2483Phe) rs876658333
NM_000267.3(NF1):c.7450G>C (p.Ala2484Pro) rs786202955
NM_000267.3(NF1):c.7457C>T (p.Thr2486Ile) rs149055633
NM_000267.3(NF1):c.7463C>T (p.Pro2488Leu) rs786202146
NM_000267.3(NF1):c.7465A>G (p.Thr2489Ala) rs145794301
NM_000267.3(NF1):c.7487G>A (p.Arg2496Gln) rs755260088
NM_000267.3(NF1):c.74C>T (p.Thr25Ile) rs1555604874
NM_000267.3(NF1):c.7531G>A (p.Ala2511Thr) rs1555536373
NM_000267.3(NF1):c.7537A>G (p.Thr2513Ala) rs779737221
NM_000267.3(NF1):c.7547T>C (p.Leu2516Ser) rs876658670
NM_000267.3(NF1):c.7553-4A>G rs761675429
NM_000267.3(NF1):c.7572T>A (p.Asp2524Glu) rs876659530
NM_000267.3(NF1):c.7579A>G (p.Ile2527Val) rs1555536636
NM_000267.3(NF1):c.757G>C (p.Val253Leu) rs786203607
NM_000267.3(NF1):c.7580T>G (p.Ile2527Arg) rs864622266
NM_000267.3(NF1):c.7582T>C (p.Ser2528Pro) rs767458044
NM_000267.3(NF1):c.7600A>G (p.Lys2534Glu) rs786203792
NM_000267.3(NF1):c.7605G>C (p.Arg2535Ser) rs876659035
NM_000267.3(NF1):c.7612A>G (p.Met2538Val) rs779373258
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.7630A>G (p.Thr2544Ala) rs786202548
NM_000267.3(NF1):c.7637C>T (p.Pro2546Leu) rs754511534
NM_000267.3(NF1):c.7645A>G (p.Arg2549Gly) rs786202086
NM_000267.3(NF1):c.7651G>C (p.Val2551Leu) rs1555536652
NM_000267.3(NF1):c.7674G>A (p.Met2558Ile) rs587781834
NM_000267.3(NF1):c.7675+3G>A rs771445239
NM_000267.3(NF1):c.7679C>G (p.Thr2560Ser) rs757632129
NM_000267.3(NF1):c.7681C>A (p.Gln2561Lys) rs587781651
NM_000267.3(NF1):c.76G>A (p.Gly26Arg) rs778973022
NM_000267.3(NF1):c.7704G>C (p.Gln2568His) rs587782168
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.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.7718G>A (p.Arg2573His) rs774781617
NM_000267.3(NF1):c.7730T>C (p.Val2577Ala) rs760531845
NM_000267.3(NF1):c.7741A>G (p.Asn2581Asp) rs150657839
NM_000267.3(NF1):c.7747C>G (p.Leu2583Val) rs776602307
NM_000267.3(NF1):c.7762G>A (p.Val2588Ile) rs786203848
NM_000267.3(NF1):c.7774C>T (p.Pro2592Ser) rs138839077
NM_000267.3(NF1):c.7775C>T (p.Pro2592Leu) rs750972729
NM_000267.3(NF1):c.7778A>G (p.Lys2593Arg) rs587781502
NM_000267.3(NF1):c.7783C>G (p.Gln2595Glu) rs1555536713
NM_000267.3(NF1):c.7784A>G (p.Gln2595Arg) rs876659308
NM_000267.3(NF1):c.7787C>T (p.Ala2596Val) rs375990655
NM_000267.3(NF1):c.7804C>G (p.Leu2602Val) rs1555536721
NM_000267.3(NF1):c.7806A>G (p.Leu2602=) rs876659536
NM_000267.3(NF1):c.7813C>G (p.Leu2605Val) rs1555536748
NM_000267.3(NF1):c.7828A>G (p.Thr2610Ala) rs199474793
NM_000267.3(NF1):c.7847G>A (p.Arg2616Gln) rs560262404
NM_000267.3(NF1):c.784C>T (p.Arg262Cys) rs754343223
NM_000267.3(NF1):c.7859A>T (p.Glu2620Val) rs876658205
NM_000267.3(NF1):c.7900C>A (p.Pro2634Thr) rs587781791
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.7925C>G (p.Ser2642Cys) rs786202579
NM_000267.3(NF1):c.7925C>T (p.Ser2642Phe) rs786202579
NM_000267.3(NF1):c.7933A>G (p.Asn2645Asp) rs1555536888
NM_000267.3(NF1):c.7937C>T (p.Thr2646Ile) rs786203669
NM_000267.3(NF1):c.7963A>G (p.Asn2655Asp) rs1555536902
NM_000267.3(NF1):c.7997G>T (p.Ser2666Ile) rs1555536916
NM_000267.3(NF1):c.8010T>G (p.His2670Gln) rs375468032
NM_000267.3(NF1):c.8017T>C (p.Ser2673Pro) rs876658554
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.8087C>T (p.Pro2696Leu) rs778799019
NM_000267.3(NF1):c.808C>G (p.Gln270Glu) rs1555608970
NM_000267.3(NF1):c.8097+4A>C rs1555537033
NM_000267.3(NF1):c.8097G>C (p.Lys2699Asn) rs1555537030
NM_000267.3(NF1):c.8098-3C>T rs786203684
NM_000267.3(NF1):c.8116T>C (p.Tyr2706His) rs876660178
NM_000267.3(NF1):c.8120C>T (p.Ala2707Val) rs760973918
NM_000267.3(NF1):c.8153T>C (p.Ile2718Thr) rs752541243
NM_000267.3(NF1):c.8155G>A (p.Asp2719Asn) rs1555537228
NM_000267.3(NF1):c.8159C>T (p.Thr2720Met) rs144178015
NM_000267.3(NF1):c.8175T>G (p.Ile2725Met) rs779789452
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.823A>C (p.Ile275Leu) rs786202464
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.8315-4C>T rs587782700
NM_000267.3(NF1):c.8323A>C (p.Lys2775Gln) rs1383658117
NM_000267.3(NF1):c.8326_8328del (p.Glu2776del) rs1555538511
NM_000267.3(NF1):c.8328dup (p.Asn2777fs) rs1555538513
NM_000267.3(NF1):c.8330A>G (p.Asn2777Ser) rs1555538515
NM_000267.3(NF1):c.8332G>A (p.Val2778Ile) rs377393842
NM_000267.3(NF1):c.8377C>T (p.Arg2793Cys) rs876658139
NM_000267.3(NF1):c.8383G>A (p.Gly2795Arg) rs778233452
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.83A>C (p.Gln28Pro) rs587782686
NM_000267.3(NF1):c.8416G>A (p.Ala2806Thr) rs199878086
NM_000267.3(NF1):c.8416G>T (p.Ala2806Ser) rs199878086
NM_000267.3(NF1):c.8427C>A (p.Phe2809Leu) rs760550772
NM_000267.3(NF1):c.8431C>T (p.Arg2811Cys) rs587782893
NM_000267.3(NF1):c.8432G>A (p.Arg2811His) rs587781523
NM_000267.3(NF1):c.8434A>C (p.Asn2812His) rs786202863
NM_000267.3(NF1):c.8437A>G (p.Ser2813Gly) rs764858484
NM_000267.3(NF1):c.8444_8446AGA[1] (p.Lys2816del) rs1555538565
NM_000267.3(NF1):c.8451C>G (p.Ile2817Met) rs1567634589
NM_000267.3(NF1):c.8452G>A (p.Val2818Met) rs368149035
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.862G>A (p.Val288Met) rs755670651
NM_000267.3(NF1):c.872A>C (p.Glu291Ala) rs876660171
NM_000267.3(NF1):c.873A>C (p.Glu291Asp) rs754915138
NM_000267.3(NF1):c.885T>A (p.Asn295Lys) rs864622300
NM_000267.3(NF1):c.888+5G>A rs556444929
NM_000267.3(NF1):c.889-5delT rs1555610837
NM_000267.3(NF1):c.889A>C (p.Lys297Gln) rs786202384
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.91C>T (p.His31Tyr) rs786202864
NM_000267.3(NF1):c.923C>G (p.Ala308Gly) rs876660836
NM_000267.3(NF1):c.92A>G (p.His31Arg) rs199474725
NM_000267.3(NF1):c.935G>A (p.Gly312Glu) rs1555610868
NM_000267.3(NF1):c.964A>G (p.Ile322Val) rs755007999
NM_000267.3(NF1):c.965T>C (p.Ile322Thr) rs1417994243
NM_000267.3(NF1):c.986A>G (p.Lys329Arg) rs1555610894
NM_000267.3(NF1):c.992G>A (p.Ser331Asn) rs1555610899
NM_000267.3(NF1):c.99A>G (p.Lys33=) rs786203280
NM_001042492.2(NF1):c.2002-4_2002-3delTC rs786203664
NM_001042492.2(NF1):c.2851-3delT rs876660379
NM_001042492.2(NF1):c.3975-5dupT rs786202231
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

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