ClinVar Miner

List of variants reported as uncertain significance for RASopathy by Invitae

Included ClinVar conditions (52):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1949
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HGVS dbSNP
NC_000001.10:g.(?_155880221)_(156109650_?)del
NC_000002.11:g.(?_38297845)_(39347583_?)dup
NC_000002.11:g.(?_39278265)_(39347583_?)dup
NC_000002.11:g.(?_39294749)_(39347583_?)dup
NC_000003.11:g.(?_12626003)_(12660230_?)dup
NC_000003.11:g.(?_12627160)_(12627318_?)dup
NC_000007.13:g.(?_140434377)_(140534692_?)dup
NC_000007.13:g.(?_140434387)_(140534682_?)dup
NC_000011.9:g.(?_118967698)_(119170501_?)del
NC_000011.9:g.(?_532626)_(534332_?)dup
NC_000011.9:g.(?_532631)_(532755_?)dup
NC_000011.9:g.(?_532631)_(534375_?)dup
NC_000012.11:g.(?_112856896)_(112942588_?)dup
NC_000012.11:g.(?_25362709)_(25362865_?)del
NC_000012.11:g.(?_25362709)_(25398338_?)dup
NC_000014.8:g.(?_50092240)_(50698021_?)dup
NC_000017.10:g.(?_29421945)_(29509683_?)dup
NC_000017.10:g.(?_29422318)_(29422397_?)dup
NC_000017.10:g.(?_29422318)_(29701183_?)dup
NC_000017.10:g.(?_29422322)_(29497021_?)dup
NC_000017.10:g.(?_29422322)_(29592363_?)dup
NC_000017.10:g.(?_29422322)_(29701179_?)dup
NC_000017.10:g.(?_29546017)_(29585526_?)dup
NC_000017.10:g.(?_29575992)_(29576147_?)dup
NC_000017.10:g.(?_29701011)_(29701193_?)dup
NC_000017.10:g.(?_29701021)_(29701183_?)dup
NC_000017.10:g.(?_29701025)_(29701178_?)dup
NC_000017.10:g.(?_29701031)_(29704695_?)dup
NC_000019.9:g.(?_4097267)_(4097351_?)del
NM_000267.3(NF1):c.-383_60+?dup443
NM_000267.3(NF1):c.-8G>A rs864622331
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.1013A>G (p.Asp338Gly) rs199474773
NM_000267.3(NF1):c.1019C>G (p.Ser340Cys) rs771089333
NM_000267.3(NF1):c.1021G>A (p.Val341Ile) rs1555610907
NM_000267.3(NF1):c.1042T>C (p.Ser348Pro) rs864622064
NM_000267.3(NF1):c.1045A>G (p.Met349Val) rs776050648
NM_000267.3(NF1):c.1048G>A (p.Val350Met) rs1185636269
NM_000267.3(NF1):c.104G>A (p.Ser35Asn) rs1060500282
NM_000267.3(NF1):c.1052T>A (p.Val351Asp) rs878853861
NM_000267.3(NF1):c.1061A>C (p.Lys354Thr)
NM_000267.3(NF1):c.1062+5C>T rs1555610916
NM_000267.3(NF1):c.1062+6A>G rs1060500291
NM_000267.3(NF1):c.1063-13G>A rs1131691066
NM_000267.3(NF1):c.1069C>G (p.Leu357Val) rs1567835662
NM_000267.3(NF1):c.1070T>G (p.Leu357Arg) rs137854563
NM_000267.3(NF1):c.1078C>T (p.Pro360Ser)
NM_000267.3(NF1):c.1082G>C (p.Ser361Thr) rs876660103
NM_000267.3(NF1):c.1108C>T (p.Pro370Ser) rs878853862
NM_000267.3(NF1):c.1112C>T (p.Ala371Val)
NM_000267.3(NF1):c.1118T>C (p.Val373Ala)
NM_000267.3(NF1):c.1120G>A (p.Asp374Asn) rs876658666
NM_000267.3(NF1):c.1130T>C (p.Ile377Thr) rs878853863
NM_000267.3(NF1):c.1134C>G (p.Asp378Glu)
NM_000267.3(NF1):c.1135T>C (p.Cys379Arg) rs1060500281
NM_000267.3(NF1):c.1138C>T (p.Leu380Phe) rs1426127948
NM_000267.3(NF1):c.1145C>T (p.Ser382Phe) rs1555611016
NM_000267.3(NF1):c.1148G>T (p.Cys383Phe)
NM_000267.3(NF1):c.1153C>T (p.Arg385Cys) rs1322986962
NM_000267.3(NF1):c.1154G>A (p.Arg385His) rs1350329837
NM_000267.3(NF1):c.1166A>G (p.His389Arg) rs149739570
NM_000267.3(NF1):c.116A>T (p.Asn39Ile) rs1567814494
NM_000267.3(NF1):c.1185+5G>C
NM_000267.3(NF1):c.1185G>A (p.Lys395=) rs1567835847
NM_000267.3(NF1):c.1186A>C (p.Ile396Leu) rs1413735911
NM_000267.3(NF1):c.1213A>G (p.Thr405Ala) rs587782233
NM_000267.3(NF1):c.1219C>T (p.His407Tyr)
NM_000267.3(NF1):c.1229T>G (p.Leu410Arg) rs1376759287
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.1247G>A (p.Arg416Gln) rs1343309278
NM_000267.3(NF1):c.1259A>G (p.Asn420Ser) rs1555611107
NM_000267.3(NF1):c.1260+2dup
NM_000267.3(NF1):c.1260+5G>A
NM_000267.3(NF1):c.1260+5G>C rs1060500253
NM_000267.3(NF1):c.1261-3T>A rs761761583
NM_000267.3(NF1):c.1261T>G (p.Ser421Ala) rs878853864
NM_000267.3(NF1):c.1264G>A (p.Ala422Thr) rs786202145
NM_000267.3(NF1):c.1274G>C (p.Trp425Ser)
NM_000267.3(NF1):c.1280C>T (p.Pro427Leu)
NM_000267.3(NF1):c.128T>C (p.Leu43Pro) rs1555604899
NM_000267.3(NF1):c.129_131del (p.Ile44del)
NM_000267.3(NF1):c.1304A>G (p.His435Arg) rs1555611571
NM_000267.3(NF1):c.1307C>T (p.Ser436Leu)
NM_000267.3(NF1):c.1308G>A (p.Ser436=) rs765425127
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.1319G>A (p.Arg440Gln) rs1466678870
NM_000267.3(NF1):c.1330G>C (p.Gly444Arg) rs1162173842
NM_000267.3(NF1):c.1331G>A (p.Gly444Asp) rs1555611582
NM_000267.3(NF1):c.134A>G (p.Asn45Ser) rs753189381
NM_000267.3(NF1):c.1352T>G (p.Val451Gly)
NM_000267.3(NF1):c.1357G>A (p.Gly453Ser) rs1273060925
NM_000267.3(NF1):c.1358G>T (p.Gly453Val) rs876660915
NM_000267.3(NF1):c.1369C>T (p.His457Tyr) rs757560526
NM_000267.3(NF1):c.1370A>T (p.His457Leu) rs786202763
NM_000267.3(NF1):c.1370_1372del (p.His457del) rs1567838357
NM_000267.3(NF1):c.1372C>G (p.Pro458Ala)
NM_000267.3(NF1):c.1379T>C (p.Ile460Thr)
NM_000267.3(NF1):c.1382G>A (p.Arg461Gln) rs1555611606
NM_000267.3(NF1):c.1391C>T (p.Pro464Leu) rs1269425503
NM_000267.3(NF1):c.1392+5G>A 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.1392G>T (p.Pro464=) rs201604273
NM_000267.3(NF1):c.1393-2dup rs1394021280
NM_000267.3(NF1):c.1405A>G (p.Lys469Glu) rs1555612271
NM_000267.3(NF1):c.1410A>C (p.Glu470Asp) rs786203090
NM_000267.3(NF1):c.1414_1440dup (p.Val472_Lys480dup)
NM_000267.3(NF1):c.143A>C (p.Lys48Thr) rs1555604902
NM_000267.3(NF1):c.1444A>G (p.Thr482Ala) rs770201871
NM_000267.3(NF1):c.144A>G (p.Lys48=) rs763375105
NM_000267.3(NF1):c.1456A>T (p.Thr486Ser) rs1060500305
NM_000267.3(NF1):c.1457C>T (p.Thr486Ile)
NM_000267.3(NF1):c.145T>A (p.Tyr49Asn) rs764367878
NM_000267.3(NF1):c.1469A>G (p.Lys490Arg) rs1060500260
NM_000267.3(NF1):c.1472A>G (p.Tyr491Cys) rs199474757
NM_000267.3(NF1):c.1480T>A (p.Leu494Met) rs878853867
NM_000267.3(NF1):c.1496T>C (p.Leu499Pro) rs1555612288
NM_000267.3(NF1):c.1510C>A (p.Pro504Thr)
NM_000267.3(NF1):c.1522C>T (p.Leu508Phe)
NM_000267.3(NF1):c.1527+1159C>T rs878853868
NM_000267.3(NF1):c.1527+2dup
NM_000267.3(NF1):c.1527+5G>A rs1060500352
NM_000267.3(NF1):c.1527+5G>C rs1060500352
NM_000267.3(NF1):c.1528-3C>T rs1060500294
NM_000267.3(NF1):c.1529A>C (p.Asn510Thr)
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.1579A>T (p.Thr527Ser) rs1567843874
NM_000267.3(NF1):c.1588G>A (p.Val530Ile) rs145191978
NM_000267.3(NF1):c.1593A>C (p.Gln531His) rs773712266
NM_000267.3(NF1):c.15G>T (p.Arg5Ser) rs1567786804
NM_000267.3(NF1):c.1600C>T (p.Pro534Ser) rs1555612858
NM_000267.3(NF1):c.1609C>T (p.His537Tyr) rs786203860
NM_000267.3(NF1):c.160G>T (p.Val54Phe) rs1060500330
NM_000267.3(NF1):c.1615C>G (p.Pro539Ala) rs1060500366
NM_000267.3(NF1):c.1620G>T (p.Glu540Asp) rs766748586
NM_000267.3(NF1):c.1641+3A>G rs754159326
NM_000267.3(NF1):c.1642-3C>G
NM_000267.3(NF1):c.1642-449A>G rs863224655
NM_000267.3(NF1):c.1642-9A>G
NM_000267.3(NF1):c.1643C>T (p.Ala548Val) rs1567844997
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.1670G>A (p.Ser557Asn) rs1567845046
NM_000267.3(NF1):c.1692T>G (p.Asp564Glu)
NM_000267.3(NF1):c.1699G>A (p.Val567Ile) rs1555613200
NM_000267.3(NF1):c.169G>A (p.Gly57Ser) rs779727341
NM_000267.3(NF1):c.1703A>G (p.Glu568Gly)
NM_000267.3(NF1):c.170G>A (p.Gly57Asp) rs1555604925
NM_000267.3(NF1):c.1717A>G (p.Ile573Val)
NM_000267.3(NF1):c.1722-9T>G rs1567845805
NM_000267.3(NF1):c.173T>C (p.Leu58Pro)
NM_000267.3(NF1):c.1744T>G (p.Cys582Gly)
NM_000267.3(NF1):c.1751A>T (p.Lys584Ile) rs1567845855
NM_000267.3(NF1):c.1756A>G (p.Thr586Ala)
NM_000267.3(NF1):c.1759A>C (p.Ser587Arg)
NM_000267.3(NF1):c.175A>G (p.Thr59Ala) rs1567814586
NM_000267.3(NF1):c.1769T>C (p.Met590Thr) rs761559887
NM_000267.3(NF1):c.1771C>G (p.Leu591Val) rs767247726
NM_000267.3(NF1):c.1775G>A (p.Ser592Asn) rs760256377
NM_000267.3(NF1):c.1780A>G (p.Thr594Ala) rs1555613419
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.17C>T (p.Pro6Leu) rs864622210
NM_000267.3(NF1):c.1801C>T (p.Arg601Trp) rs587782592
NM_000267.3(NF1):c.1802G>A (p.Arg601Gln) rs1060500288
NM_000267.3(NF1):c.1804G>C (p.Glu602Gln) rs1060500322
NM_000267.3(NF1):c.181A>G (p.Ile61Val) rs754295034
NM_000267.3(NF1):c.1826A>G (p.Lys609Arg)
NM_000267.3(NF1):c.1839_1844del (p.Asn614_Lys615del)
NM_000267.3(NF1):c.1845G>A (p.Lys615=)
NM_000267.3(NF1):c.1845G>T (p.Lys615Asn) rs1131691080
NM_000267.3(NF1):c.1846-3T>A
NM_000267.3(NF1):c.1846-5T>C rs1567846600
NM_000267.3(NF1):c.1846C>G (p.Gln616Glu) rs1555613543
NM_000267.3(NF1):c.1849G>A (p.Ala617Thr) rs1131691135
NM_000267.3(NF1):c.1850C>A (p.Ala617Glu)
NM_000267.3(NF1):c.1855A>G (p.Arg619Gly) rs587781821
NM_000267.3(NF1):c.1862C>T (p.Ser621Phe) rs760346063
NM_000267.3(NF1):c.1867C>T (p.His623Tyr) rs759555122
NM_000267.3(NF1):c.1868A>G (p.His623Arg) rs1555613555
NM_000267.3(NF1):c.1870T>C (p.Phe624Leu) rs765060733
NM_000267.3(NF1):c.1871T>C (p.Phe624Ser)
NM_000267.3(NF1):c.1877T>C (p.Leu626Pro)
NM_000267.3(NF1):c.1886G>T (p.Gly629Val)
NM_000267.3(NF1):c.1888G>A (p.Val630Ile) rs751795238
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.1892G>C (p.Gly631Ala)
NM_000267.3(NF1):c.1894T>A (p.Cys632Ser) rs370789267
NM_000267.3(NF1):c.1895G>A (p.Cys632Tyr) rs1567846698
NM_000267.3(NF1):c.1900A>G (p.Ile634Val) rs745906742
NM_000267.3(NF1):c.1907C>A (p.Ser636Tyr)
NM_000267.3(NF1):c.1907C>G (p.Ser636Cys) rs780412565
NM_000267.3(NF1):c.1907C>T (p.Ser636Phe) rs780412565
NM_000267.3(NF1):c.1910G>C (p.Ser637Thr) rs749745247
NM_000267.3(NF1):c.1916A>G (p.Asn639Ser) rs1060500275
NM_000267.3(NF1):c.1919C>T (p.Thr640Ile)
NM_000267.3(NF1):c.1921A>G (p.Ser641Gly) rs769154907
NM_000267.3(NF1):c.1921A>T (p.Ser641Cys)
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.1955G>A (p.Arg652His) rs587778549
NM_000267.3(NF1):c.1957A>G (p.Thr653Ala)
NM_000267.3(NF1):c.1960C>T (p.Pro654Ser) rs765281937
NM_000267.3(NF1):c.1966G>A (p.Ala656Thr) rs1555613598
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.1985A>G (p.Lys662Arg) rs578141234
NM_000267.3(NF1):c.1987G>A (p.Gly663Arg) rs140653372
NM_000267.3(NF1):c.1991A>G (p.Asn664Ser) rs756145065
NM_000267.3(NF1):c.1999A>G (p.Met667Val) rs749833271
NM_000267.3(NF1):c.2001G>A (p.Met667Ile)
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.2018G>A (p.Cys673Tyr) rs878853872
NM_000267.3(NF1):c.2020A>G (p.Ser674Gly) rs1555613753
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.2038T>C (p.Cys680Arg) rs1555613775
NM_000267.3(NF1):c.203T>C (p.Met68Thr) rs779063198
NM_000267.3(NF1):c.204+4delA
NM_000267.3(NF1):c.204+6T>G rs1555604948
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.2072T>G (p.Leu691Arg) rs1131691132
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.2101G>A (p.Glu701Lys)
NM_000267.3(NF1):c.2126G>A (p.Cys709Tyr) rs864622547
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.2156T>C (p.Ile719Thr)
NM_000267.3(NF1):c.2158C>T (p.Arg720Trp) rs759679443
NM_000267.3(NF1):c.2159G>A (p.Arg720Gln) rs1350468182
NM_000267.3(NF1):c.2161T>C (p.Cys721Arg)
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.2191C>T (p.Leu731Phe) rs185204667
NM_000267.3(NF1):c.219A>T (p.Glu73Asp) rs1567816022
NM_000267.3(NF1):c.2203T>C (p.Tyr735His) rs1555613827
NM_000267.3(NF1):c.2206A>C (p.Asn736His) rs1567847621
NM_000267.3(NF1):c.2233A>G (p.Ser745Gly) rs786201865
NM_000267.3(NF1):c.2237A>G (p.Asn746Ser) rs1176567641
NM_000267.3(NF1):c.2239A>G (p.Met747Val) rs1471232737
NM_000267.3(NF1):c.223G>A (p.Ala75Thr)
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.2251G>A (p.Gly751Arg)
NM_000267.3(NF1):c.2252-9T>G rs1555613907
NM_000267.3(NF1):c.2257G>A (p.Ala753Thr) rs758325102
NM_000267.3(NF1):c.2261C>G (p.Ala754Gly) rs1555613912
NM_000267.3(NF1):c.2271A>T (p.Lys757Asn) rs1555613916
NM_000267.3(NF1):c.2274A>T (p.Arg758Ser)
NM_000267.3(NF1):c.2275G>T (p.Val759Leu)
NM_000267.3(NF1):c.2281G>C (p.Ala761Pro) rs786202504
NM_000267.3(NF1):c.2287C>G (p.Leu763Val)
NM_000267.3(NF1):c.2288T>G (p.Leu763Arg) rs199474762
NM_000267.3(NF1):c.2293C>G (p.Arg765Gly) rs1383770460
NM_000267.3(NF1):c.2294G>A (p.Arg765His) rs199474777
NM_000267.3(NF1):c.2297T>G (p.Ile766Ser) rs863224657
NM_000267.3(NF1):c.231A>T (p.Lys77Asn) rs373563053
NM_000267.3(NF1):c.2321C>T (p.Thr774Ile) rs917302286
NM_000267.3(NF1):c.2325+4T>C rs1555613934
NM_000267.3(NF1):c.2325+6C>T rs1567847979
NM_000267.3(NF1):c.2326-10T>G rs1555613971
NM_000267.3(NF1):c.2326-9T>A rs181838967
NM_000267.3(NF1):c.232_234del (p.Asn78del) rs1555605367
NM_000267.3(NF1):c.2338A>G (p.Thr780Ala) rs1205746953
NM_000267.3(NF1):c.2339C>G (p.Thr780Arg) rs199474746
NM_000267.3(NF1):c.2342A>G (p.His781Arg)
NM_000267.3(NF1):c.2342A>T (p.His781Leu) rs199474763
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.2378A>C (p.Asn793Thr) rs772543826
NM_000267.3(NF1):c.237A>T (p.Leu79Phe) rs752208826
NM_000267.3(NF1):c.2390C>T (p.Ala797Val) rs1181350360
NM_000267.3(NF1):c.2393A>C (p.Lys798Thr) rs745498566
NM_000267.3(NF1):c.2395A>G (p.Met799Val)
NM_000267.3(NF1):c.2395A>T (p.Met799Leu) rs1060500317
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.2409+5G>A rs763688567
NM_000267.3(NF1):c.2410-12T>G
NM_000267.3(NF1):c.2410-18C>G
NM_000267.3(NF1):c.2410-8G>A rs1060500270
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.2437G>A (p.Val813Ile) rs878853876
NM_000267.3(NF1):c.2440A>G (p.Lys814Glu) rs1555614184
NM_000267.3(NF1):c.2441A>T (p.Lys814Met)
NM_000267.3(NF1):c.2447G>A (p.Arg816Gln) rs762709897
NM_000267.3(NF1):c.244T>C (p.Ser82Pro)
NM_000267.3(NF1):c.2468G>A (p.Gly823Glu) rs1060500267
NM_000267.3(NF1):c.2474C>G (p.Ser825Cys) rs1060500314
NM_000267.3(NF1):c.2476A>C (p.Ile826Leu) rs767069721
NM_000267.3(NF1):c.2476A>G (p.Ile826Val) rs767069721
NM_000267.3(NF1):c.2479G>A (p.Asp827Asn)
NM_000267.3(NF1):c.2486C>T (p.Ser829Phe) rs1567848794
NM_000267.3(NF1):c.248A>G (p.Gln83Arg) rs1060500360
NM_000267.3(NF1):c.2495A>G (p.Asp832Gly) rs1060500283
NM_000267.3(NF1):c.2512A>T (p.Ile838Phe) rs1555614212
NM_000267.3(NF1):c.2514C>G (p.Ile838Met) rs863224352
NM_000267.3(NF1):c.2516A>T (p.Asn839Ile) rs1567848834
NM_000267.3(NF1):c.2536G>A (p.Ala846Thr) rs1555614226
NM_000267.3(NF1):c.2539C>G (p.Leu847Val)
NM_000267.3(NF1):c.2539C>T (p.Leu847Phe) rs753552408
NM_000267.3(NF1):c.2549T>C (p.Val850Ala)
NM_000267.3(NF1):c.2564G>C (p.Arg855Thr) rs786203716
NM_000267.3(NF1):c.2569A>C (p.Asn857His) rs1060500259
NM_000267.3(NF1):c.256A>G (p.Ile86Val)
NM_000267.3(NF1):c.2570A>G (p.Asn857Ser) rs1060500299
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>A (p.Ala861Thr) rs768425956
NM_000267.3(NF1):c.2581G>C (p.Ala861Pro) rs768425956
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.2596C>T (p.Pro866Ser) rs1555614272
NM_000267.3(NF1):c.2597C>T (p.Pro866Leu) rs767159555
NM_000267.3(NF1):c.2599A>G (p.Met867Val) rs864622715
NM_000267.3(NF1):c.2606C>T (p.Pro869Leu) rs878853878
NM_000267.3(NF1):c.2617C>G (p.Arg873Gly)
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.2618G>C (p.Arg873Pro) rs949092641
NM_000267.3(NF1):c.2623G>A (p.Gly875Ser) rs754734571
NM_000267.3(NF1):c.2624G>T (p.Gly875Val) rs1060500361
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.2641A>G (p.Met881Val) rs1060500263
NM_000267.3(NF1):c.2642T>C (p.Met881Thr)
NM_000267.3(NF1):c.2643G>A (p.Met881Ile) rs376666221
NM_000267.3(NF1):c.2652G>A (p.Glu884=) rs757843283
NM_000267.3(NF1):c.2653G>A (p.Gly885Arg) rs1060500272
NM_000267.3(NF1):c.2659G>A (p.Ala887Thr) rs1251621684
NM_000267.3(NF1):c.2660C>T (p.Ala887Val) rs1567849029
NM_000267.3(NF1):c.2665A>G (p.Thr889Ala) rs1314766383
NM_000267.3(NF1):c.2666C>G (p.Thr889Arg) rs369912079
NM_000267.3(NF1):c.2668C>T (p.Pro890Ser) rs771012891
NM_000267.3(NF1):c.266C>A (p.Thr89Lys) rs1555605392
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.2684T>G (p.Met895Arg) rs1555614301
NM_000267.3(NF1):c.2689C>T (p.Arg897Trp) rs775949348
NM_000267.3(NF1):c.2690G>A (p.Arg897Gln) rs863224658
NM_000267.3(NF1):c.2690G>C (p.Arg897Pro) rs863224658
NM_000267.3(NF1):c.2725G>T (p.Val909Leu) rs1567849105
NM_000267.3(NF1):c.2740C>T (p.Arg914Trp)
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.2749G>A (p.Val917Ile) rs752455591
NM_000267.3(NF1):c.274A>G (p.Lys92Glu) rs1555605396
NM_000267.3(NF1):c.2754G>A (p.Lys918=) rs1555614330
NM_000267.3(NF1):c.2757T>A (p.Asp919Glu)
NM_000267.3(NF1):c.2759T>A (p.Leu920Gln)
NM_000267.3(NF1):c.2761G>A (p.Val921Met) rs567023433
NM_000267.3(NF1):c.2765G>A (p.Gly922Asp) rs1378141985
NM_000267.3(NF1):c.276A>T (p.Lys92Asn)
NM_000267.3(NF1):c.2782G>A (p.Ala928Thr) rs1277935019
NM_000267.3(NF1):c.2786T>G (p.Leu929Arg) rs1555614338
NM_000267.3(NF1):c.278G>A (p.Cys93Tyr) rs199474728
NM_000267.3(NF1):c.2794A>G (p.Met932Val) rs886052800
NM_000267.3(NF1):c.2798T>C (p.Leu933Pro) rs1555614342
NM_000267.3(NF1):c.2803A>C (p.Asn935His) rs786201823
NM_000267.3(NF1):c.2809T>G (p.Leu937Val) rs1567849181
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.2839T>A (p.Ser947Thr) rs1567849219
NM_000267.3(NF1):c.2840C>G (p.Ser947Cys) rs878853879
NM_000267.3(NF1):c.284C>T (p.Ala95Val) rs1567816119
NM_000267.3(NF1):c.2850+5A>G rs864622633
NM_000267.3(NF1):c.2850+5A>T rs864622633
NM_000267.3(NF1):c.2851-6_2851-3delCTTT
NM_000267.3(NF1):c.2851G>A (p.Val951Ile)
NM_000267.3(NF1):c.2867C>T (p.Thr956Ile)
NM_000267.3(NF1):c.288+4A>G rs781459468
NM_000267.3(NF1):c.289-3T>C
NM_000267.3(NF1):c.289-6T>C rs757074803
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.2915T>A (p.Leu972Gln)
NM_000267.3(NF1):c.2915T>C (p.Leu972Pro)
NM_000267.3(NF1):c.2932G>T (p.Gly978Cys)
NM_000267.3(NF1):c.2954A>T (p.Gln985Leu) rs1567849565
NM_000267.3(NF1):c.2960G>A (p.Ser987Asn) rs1060500329
NM_000267.3(NF1):c.2963T>C (p.Ile988Thr)
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.2972T>C (p.Met991Thr) rs1060500298
NM_000267.3(NF1):c.2990+3A>T
NM_000267.3(NF1):c.2990+5G>A rs1555614464
NM_000267.3(NF1):c.2990G>C (p.Arg997Thr) rs1555614462
NM_000267.3(NF1):c.2990G>T (p.Arg997Met) rs1555614462
NM_000267.3(NF1):c.2991-4A>G rs754414489
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.3011A>G (p.Asn1004Ser)
NM_000267.3(NF1):c.3013A>G (p.Met1005Val) rs1555614502
NM_000267.3(NF1):c.3016G>A (p.Val1006Ile) rs1060500383
NM_000267.3(NF1):c.3017T>C (p.Val1006Ala)
NM_000267.3(NF1):c.3037A>C (p.Thr1013Pro)
NM_000267.3(NF1):c.3038C>T (p.Thr1013Met) rs786203132
NM_000267.3(NF1):c.3040A>G (p.Lys1014Glu) rs1135402839
NM_000267.3(NF1):c.304A>G (p.Met102Val) rs756370324
NM_000267.3(NF1):c.3054A>C (p.Leu1018Phe)
NM_000267.3(NF1):c.3055G>A (p.Val1019Ile) rs1567849826
NM_000267.3(NF1):c.3056T>C (p.Val1019Ala) rs1555614520
NM_000267.3(NF1):c.3062T>G (p.Val1021Gly) rs1355411201
NM_000267.3(NF1):c.3065_3073dup (p.Met1022_Ala1024dup) rs1567849843
NM_000267.3(NF1):c.3071C>T (p.Ala1024Val) rs1555614525
NM_000267.3(NF1):c.3074G>A (p.Arg1025Lys) rs876659876
NM_000267.3(NF1):c.3078A>C (p.Arg1026Ser)
NM_000267.3(NF1):c.3079G>A (p.Asp1027Asn)
NM_000267.3(NF1):c.3103A>G (p.Met1035Val) rs771694969
NM_000267.3(NF1):c.3104T>C (p.Met1035Thr) rs137854553
NM_000267.3(NF1):c.3107A>C (p.Lys1036Thr) rs1555614540
NM_000267.3(NF1):c.3113G>T (p.Arg1038Met) rs1060500313
NM_000267.3(NF1):c.3118A>G (p.Lys1040Glu) rs1555614619
NM_000267.3(NF1):c.3134T>C (p.Leu1045Pro) rs1567850142
NM_000267.3(NF1):c.3140A>G (p.Asp1047Gly) rs1555614631
NM_000267.3(NF1):c.3142T>G (p.Trp1048Gly) rs1555614634
NM_000267.3(NF1):c.3145G>A (p.Val1049Ile) rs1060500343
NM_000267.3(NF1):c.3149T>A (p.Met1050Lys)
NM_000267.3(NF1):c.3154A>G (p.Thr1052Ala)
NM_000267.3(NF1):c.3166G>A (p.Ala1056Thr) rs776907522
NM_000267.3(NF1):c.3169G>A (p.Ala1057Thr)
NM_000267.3(NF1):c.3173A>G (p.Asp1058Gly) rs1387858614
NM_000267.3(NF1):c.3180T>G (p.Asp1060Glu) rs1555614646
NM_000267.3(NF1):c.3197G>T (p.Arg1066Ile) rs1555614652
NM_000267.3(NF1):c.3198-3C>T rs777759972
NM_000267.3(NF1):c.3198-4_3198-3insTGT rs745559136
NM_000267.3(NF1):c.3198-5T>G
NM_000267.3(NF1):c.3198-5_3198-3dupTTC rs1227046003
NM_000267.3(NF1):c.3198-5_3198-4insC rs1555614804
NM_000267.3(NF1):c.3204G>C (p.Leu1068Phe)
NM_000267.3(NF1):c.3215G>A (p.Ser1072Asn)
NM_000267.3(NF1):c.3217A>G (p.Met1073Val) rs199474740
NM_000267.3(NF1):c.3223G>T (p.Ala1075Ser)
NM_000267.3(NF1):c.3238C>G (p.Leu1080Val) rs1555614832
NM_000267.3(NF1):c.323T>C (p.Met108Thr) rs780233935
NM_000267.3(NF1):c.3241G>A (p.Ala1081Thr) rs1555614834
NM_000267.3(NF1):c.3242C>G (p.Ala1081Gly) rs769941435
NM_000267.3(NF1):c.3243T>A (p.Ala1081=) rs1567850679
NM_000267.3(NF1):c.3245G>C (p.Gly1082Ala) rs1555614839
NM_000267.3(NF1):c.3245_3247del (p.Gly1082_Leu1083delinsVal)
NM_000267.3(NF1):c.3250C>T (p.Pro1084Ser) rs1555614848
NM_000267.3(NF1):c.3274G>A (p.Gly1092Ser) rs1457169236
NM_000267.3(NF1):c.3275G>A (p.Gly1092Asp)
NM_000267.3(NF1):c.3287T>C (p.Met1096Thr) rs863224659
NM_000267.3(NF1):c.3315A>G (p.Lys1105=) rs1555614915
NM_000267.3(NF1):c.3332T>C (p.Met1111Thr) rs1555614920
NM_000267.3(NF1):c.3336C>A (p.Asn1112Lys) rs1060500262
NM_000267.3(NF1):c.3346G>C (p.Asp1116His) rs1555614932
NM_000267.3(NF1):c.3352A>G (p.Ser1118Gly) rs201645318
NM_000267.3(NF1):c.3358G>T (p.Val1120Phe) rs200594167
NM_000267.3(NF1):c.3359T>C (p.Val1120Ala) rs751571517
NM_000267.3(NF1):c.3362A>G (p.Glu1121Gly) rs757222815
NM_000267.3(NF1):c.3368A>G (p.Glu1123Gly)
NM_000267.3(NF1):c.3371G>A (p.Ser1124Asn) rs374472758
NM_000267.3(NF1):c.3374C>T (p.Ala1125Val) rs902739109
NM_000267.3(NF1):c.3383G>A (p.Gly1128Asp) 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.3400A>G (p.Met1134Val)
NM_000267.3(NF1):c.3404C>T (p.Ser1135Phe) rs1555614952
NM_000267.3(NF1):c.3407G>A (p.Arg1136Gln)
NM_000267.3(NF1):c.3407G>C (p.Arg1136Pro) rs868407539
NM_000267.3(NF1):c.3412C>T (p.Leu1138=) rs1555614958
NM_000267.3(NF1):c.3416C>A (p.Ala1139Glu) rs1555614960
NM_000267.3(NF1):c.3427C>T (p.His1143Tyr) rs1555614963
NM_000267.3(NF1):c.3428A>G (p.His1143Arg) rs1555614965
NM_000267.3(NF1):c.3436G>A (p.Val1146Ile) rs201047812
NM_000267.3(NF1):c.3436G>T (p.Val1146Phe)
NM_000267.3(NF1):c.3446T>C (p.Met1149Thr)
NM_000267.3(NF1):c.3451A>G (p.Asn1151Asp) rs1567851125
NM_000267.3(NF1):c.3461A>G (p.Asn1154Ser) rs371544233
NM_000267.3(NF1):c.3464C>G (p.Ala1155Gly)
NM_000267.3(NF1):c.3467A>G (p.Asn1156Ser) rs199474764
NM_000267.3(NF1):c.3485T>G (p.Met1162Arg) rs200732832
NM_000267.3(NF1):c.3490T>G (p.Ser1164Ala) rs750303863
NM_000267.3(NF1):c.3496+3G>A rs1060500287
NM_000267.3(NF1):c.3496+5G>A
NM_000267.3(NF1):c.349A>G (p.Ile117Val)
NM_000267.3(NF1):c.3501A>C (p.Leu1167Phe) rs1555615008
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.3517C>T (p.Leu1173Phe) rs1060500375
NM_000267.3(NF1):c.3530C>T (p.Ala1177Val)
NM_000267.3(NF1):c.3533C>A (p.Thr1178Lys) rs1555615025
NM_000267.3(NF1):c.3538A>G (p.Met1180Val) rs786203658
NM_000267.3(NF1):c.3544G>T (p.Val1182Phe) rs1555615027
NM_000267.3(NF1):c.3548T>C (p.Leu1183Pro) rs1555615028
NM_000267.3(NF1):c.355C>A (p.His119Asn) rs1555606066
NM_000267.3(NF1):c.3568G>A (p.Gly1190Ser)
NM_000267.3(NF1):c.3586C>G (p.Leu1196Val) rs1555615039
NM_000267.3(NF1):c.3590C>G (p.Ala1197Gly) rs370820478
NM_000267.3(NF1):c.3590C>T (p.Ala1197Val) rs370820478
NM_000267.3(NF1):c.3595A>G (p.Thr1199Ala)
NM_000267.3(NF1):c.3596C>G (p.Thr1199Arg) rs1555615047
NM_000267.3(NF1):c.3596C>T (p.Thr1199Ile) rs1555615047
NM_000267.3(NF1):c.3598G>A (p.Val1200Ile)
NM_000267.3(NF1):c.3604G>T (p.Ala1202Ser) rs146641724
NM_000267.3(NF1):c.3607G>A (p.Asp1203Asn) rs1555615051
NM_000267.3(NF1):c.3614T>G (p.Phe1205Cys)
NM_000267.3(NF1):c.3621A>G (p.Arg1207=) rs141390152
NM_000267.3(NF1):c.3623T>C (p.Leu1208Ser) rs1060500374
NM_000267.3(NF1):c.3625G>T (p.Val1209Leu) rs1458579232
NM_000267.3(NF1):c.3644T>G (p.Met1215Arg) rs1555615071
NM_000267.3(NF1):c.3653A>G (p.Gln1218Arg) rs876659541
NM_000267.3(NF1):c.3656G>T (p.Gly1219Val) rs878853885
NM_000267.3(NF1):c.3658G>A (p.Glu1220Lys)
NM_000267.3(NF1):c.3664C>G (p.Pro1222Ala) rs1555615088
NM_000267.3(NF1):c.3667A>G (p.Ile1223Val) rs1567851470
NM_000267.3(NF1):c.3671C>T (p.Ala1224Val) rs1060500340
NM_000267.3(NF1):c.3673A>G (p.Met1225Val)
NM_000267.3(NF1):c.367A>G (p.Thr123Ala) rs587781757
NM_000267.3(NF1):c.3683C>T (p.Ala1228Val) rs1060500315
NM_000267.3(NF1):c.3685A>G (p.Asn1229Asp) rs1555615102
NM_000267.3(NF1):c.3685A>T (p.Asn1229Tyr) rs1555615102
NM_000267.3(NF1):c.368C>A (p.Thr123Asn)
NM_000267.3(NF1):c.368C>T (p.Thr123Ile) rs878853886
NM_000267.3(NF1):c.3694C>T (p.Pro1232Ser) rs1482085668
NM_000267.3(NF1):c.3708+5G>C
NM_000267.3(NF1):c.3708+8A>G rs1173930586
NM_000267.3(NF1):c.3709-3C>A rs1555615430
NM_000267.3(NF1):c.370T>A (p.Cys124Ser) rs1555606074
NM_000267.3(NF1):c.3716T>G (p.Leu1239Arg)
NM_000267.3(NF1):c.3721C>G (p.Arg1241Gly)
NM_000267.3(NF1):c.3722G>A (p.Arg1241Gln) rs543387071
NM_000267.3(NF1):c.3722G>C (p.Arg1241Pro)
NM_000267.3(NF1):c.3732T>A (p.Val1244=) rs756653022
NM_000267.3(NF1):c.3736C>G (p.Leu1246Val) rs1567852501
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.3749G>T (p.Arg1250Leu)
NM_000267.3(NF1):c.374G>A (p.Arg125His) rs149003051
NM_000267.3(NF1):c.3752A>G (p.His1251Arg) rs1567852526
NM_000267.3(NF1):c.3753T>A (p.His1251Gln)
NM_000267.3(NF1):c.3759_3767del (p.Tyr1254_Leu1256del)
NM_000267.3(NF1):c.3764A>G (p.Gln1255Arg) rs1555615453
NM_000267.3(NF1):c.3765A>G (p.Gln1255=) rs766896025
NM_000267.3(NF1):c.3772T>C (p.Trp1258Arg)
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.3790G>A (p.Glu1264Lys) rs863224660
NM_000267.3(NF1):c.37G>A (p.Val13Met) rs1060500261
NM_000267.3(NF1):c.3811A>C (p.Met1271Leu) rs746583007
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>C (p.Met1271Ile)
NM_000267.3(NF1):c.3815A>T (p.Gln1272Leu)
NM_000267.3(NF1):c.3830G>T (p.Gly1277Val) rs1555615480
NM_000267.3(NF1):c.3836G>A (p.Ser1279Asn) rs1170788683
NM_000267.3(NF1):c.3842C>G (p.Ala1281Gly) rs1060500341
NM_000267.3(NF1):c.3849A>T (p.Lys1283Asn)
NM_000267.3(NF1):c.3852A>G (p.Ile1284Met)
NM_000267.3(NF1):c.3857C>T (p.Thr1286Ile) rs1060500306
NM_000267.3(NF1):c.3863G>A (p.Cys1288Tyr)
NM_000267.3(NF1):c.386A>G (p.Gln129Arg) rs1060500250
NM_000267.3(NF1):c.3870+4T>C rs1555615499
NM_000267.3(NF1):c.3870G>C (p.Lys1290Asn) rs1555615497
NM_000267.3(NF1):c.3871-5T>G
NM_000267.3(NF1):c.3875A>G (p.Tyr1292Cys) rs1060500243
NM_000267.3(NF1):c.387G>C (p.Gln129His) rs1390215440
NM_000267.3(NF1):c.3881C>T (p.Ala1294Val) rs878853889
NM_000267.3(NF1):c.3883A>G (p.Thr1295Ala) rs143836226
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.390T>A (p.His130Gln)
NM_000267.3(NF1):c.3911T>C (p.Leu1304Ser)
NM_000267.3(NF1):c.3916C>A (p.Arg1306=) rs376576925
NM_000267.3(NF1):c.3917G>A (p.Arg1306Gln) rs1306237220
NM_000267.3(NF1):c.3921T>G (p.Ile1307Met) rs876660805
NM_000267.3(NF1):c.3926T>A (p.Ile1309Asn) rs1567852796
NM_000267.3(NF1):c.392C>T (p.Ala131Val) rs1567817930
NM_000267.3(NF1):c.3932C>T (p.Ser1311Phe) rs587782894
NM_000267.3(NF1):c.3940T>C (p.Trp1314Arg)
NM_000267.3(NF1):c.3947A>G (p.His1316Arg) rs751023085
NM_000267.3(NF1):c.3949G>C (p.Val1317Leu) rs1555615560
NM_000267.3(NF1):c.3958G>A (p.Glu1320Lys) rs1273280025
NM_000267.3(NF1):c.3962T>C (p.Val1321Ala) rs1060500337
NM_000267.3(NF1):c.3964G>A (p.Asp1322Asn)
NM_000267.3(NF1):c.3964G>C (p.Asp1322His)
NM_000267.3(NF1):c.3970A>G (p.Thr1324Ala) rs189522993
NM_000267.3(NF1):c.3974+3T>G
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.3988G>A (p.Glu1330Lys) rs1483311407
NM_000267.3(NF1):c.3989A>C (p.Glu1330Ala) rs1256727206
NM_000267.3(NF1):c.3991A>G (p.Ser1331Gly) rs1411796317
NM_000267.3(NF1):c.3992G>C (p.Ser1331Thr) rs1567858266
NM_000267.3(NF1):c.3998A>G (p.Glu1333Gly) rs200618072
NM_000267.3(NF1):c.4000G>A (p.Glu1334Lys) rs878853892
NM_000267.3(NF1):c.4009C>T (p.Arg1337Trp) rs146306756
NM_000267.3(NF1):c.4010G>A (p.Arg1337Gln) rs1060500379
NM_000267.3(NF1):c.4012A>C (p.Asn1338His) rs864622202
NM_000267.3(NF1):c.4014_4016CCT[1] (p.Leu1340del) rs863224834
NM_000267.3(NF1):c.4016T>C (p.Leu1339Pro) rs1567858306
NM_000267.3(NF1):c.403C>T (p.Arg135Trp) rs775191883
NM_000267.3(NF1):c.403_405del (p.Arg135del)
NM_000267.3(NF1):c.4043A>G (p.His1348Arg) rs786201844
NM_000267.3(NF1):c.404G>A (p.Arg135Gln) rs1060500244
NM_000267.3(NF1):c.4051A>C (p.Ile1351Leu)
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.4061C>A (p.Ser1354Tyr) rs1555617348
NM_000267.3(NF1):c.4069T>C (p.Phe1357Leu) rs1207255352
NM_000267.3(NF1):c.4072C>T (p.Pro1358Ser) 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.4085G>T (p.Arg1362Leu)
NM_000267.3(NF1):c.4098C>G (p.His1366Gln) rs1555617377
NM_000267.3(NF1):c.4110+3A>G rs774669878
NM_000267.3(NF1):c.4110+4T>C rs587781700
NM_000267.3(NF1):c.4122G>T (p.Gln1374His) rs775206746
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.412G>C (p.Ala138Pro)
NM_000267.3(NF1):c.4130C>T (p.Pro1377Leu) rs864622299
NM_000267.3(NF1):c.4134G>T (p.Gln1378His) rs1355988609
NM_000267.3(NF1):c.4138A>G (p.Ser1380Gly)
NM_000267.3(NF1):c.4138A>T (p.Ser1380Cys) rs1060500310
NM_000267.3(NF1):c.4139G>C (p.Ser1380Thr) rs1060500249
NM_000267.3(NF1):c.4139G>T (p.Ser1380Ile) rs1060500249
NM_000267.3(NF1):c.4144G>A (p.Gly1382Ser) rs138227618
NM_000267.3(NF1):c.4144G>C (p.Gly1382Arg)
NM_000267.3(NF1):c.4148C>T (p.Ala1383Val) rs1060500257
NM_000267.3(NF1):c.4149A>G (p.Ala1383=) rs376825167
NM_000267.3(NF1):c.4154G>T (p.Gly1385Val) rs1555618505
NM_000267.3(NF1):c.4156A>G (p.Ser1386Gly) rs587781755
NM_000267.3(NF1):c.4162A>G (p.Met1388Val) rs1060500369
NM_000267.3(NF1):c.4163T>C (p.Met1388Thr) rs1555618508
NM_000267.3(NF1):c.4164G>C (p.Met1388Ile) rs786201895
NM_000267.3(NF1):c.4167C>G (p.Phe1389Leu) rs750213850
NM_000267.3(NF1):c.4172G>C (p.Arg1391Thr) rs1555618516
NM_000267.3(NF1):c.4181A>G (p.Asn1394Ser)
NM_000267.3(NF1):c.4182T>A (p.Asn1394Lys)
NM_000267.3(NF1):c.4189A>G (p.Ile1397Val) rs369345045
NM_000267.3(NF1):c.4193T>A (p.Val1398Asp) rs1555618528
NM_000267.3(NF1):c.4195T>C (p.Ser1399Pro) rs1555618533
NM_000267.3(NF1):c.4199C>T (p.Pro1400Leu) rs753997885
NM_000267.3(NF1):c.4201T>C (p.Tyr1401His)
NM_000267.3(NF1):c.4211G>A (p.Gly1404Glu) rs1555618547
NM_000267.3(NF1):c.4227G>T (p.Lys1409Asn) rs373086572
NM_000267.3(NF1):c.4243G>A (p.Glu1415Lys) rs876660428
NM_000267.3(NF1):c.4246A>T (p.Arg1416Trp) rs1555618558
NM_000267.3(NF1):c.4247G>A (p.Arg1416Lys) rs1567862061
NM_000267.3(NF1):c.4249G>T (p.Gly1417Cys) rs1555618559
NM_000267.3(NF1):c.4250G>T (p.Gly1417Val)
NM_000267.3(NF1):c.4258T>A (p.Leu1420Ile)
NM_000267.3(NF1):c.4269G>A (p.Lys1423=) rs199474750
NM_000267.3(NF1):c.4270A>C (p.Ile1424Leu) rs1555618637
NM_000267.3(NF1):c.4270A>T (p.Ile1424Leu) rs1555618637
NM_000267.3(NF1):c.4271T>G (p.Ile1424Arg)
NM_000267.3(NF1):c.4281T>G (p.Ser1427Arg) rs1555618644
NM_000267.3(NF1):c.4289A>C (p.Asn1430Thr) rs199474754
NM_000267.3(NF1):c.4289A>G (p.Asn1430Ser) rs199474754
NM_000267.3(NF1):c.4292A>G (p.His1431Arg) rs1567862291
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.4306A>C (p.Lys1436Gln)
NM_000267.3(NF1):c.4308A>C (p.Lys1436Asn) rs1555618658
NM_000267.3(NF1):c.4315C>T (p.His1439Tyr) rs377295676
NM_000267.3(NF1):c.4316A>G (p.His1439Arg)
NM_000267.3(NF1):c.4316A>T (p.His1439Leu) rs748990989
NM_000267.3(NF1):c.4318A>T (p.Met1440Leu) rs1555618675
NM_000267.3(NF1):c.4319T>A (p.Met1440Lys) rs754639587
NM_000267.3(NF1):c.4319T>C (p.Met1440Thr) rs754639587
NM_000267.3(NF1):c.4320G>A (p.Met1440Ile) rs1555618677
NM_000267.3(NF1):c.4321C>T (p.Arg1441Trp) rs876658127
NM_000267.3(NF1):c.4322G>A (p.Arg1441Gln) rs370852681
NM_000267.3(NF1):c.4333G>T (p.Asp1445Tyr) rs878853895
NM_000267.3(NF1):c.433C>T (p.Leu145Phe) 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.4354G>A (p.Asp1452Asn) rs587781790
NM_000267.3(NF1):c.4358C>T (p.Ala1453Val) rs587781553
NM_000267.3(NF1):c.4363C>T (p.Arg1455Cys) rs771420960
NM_000267.3(NF1):c.4367+6T>A rs1567862378
NM_000267.3(NF1):c.4367G>C (p.Arg1456Thr) rs1060500293
NM_000267.3(NF1):c.4368G>A (p.Arg1456=)
NM_000267.3(NF1):c.4370T>G (p.Phe1457Cys)
NM_000267.3(NF1):c.4379A>G (p.Asp1460Gly)
NM_000267.3(NF1):c.4381A>G (p.Ile1461Val) rs1060500362
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.4384G>A (p.Ala1462Thr) rs1555618808
NM_000267.3(NF1):c.4391A>G (p.Asp1464Gly)
NM_000267.3(NF1):c.4396C>T (p.Pro1466Ser) rs1265291141
NM_000267.3(NF1):c.4399A>C (p.Thr1467Pro)
NM_000267.3(NF1):c.4399A>G (p.Thr1467Ala) rs876660162
NM_000267.3(NF1):c.4409C>T (p.Ala1470Val) rs876658334
NM_000267.3(NF1):c.4415A>G (p.Asn1472Ser)
NM_000267.3(NF1):c.4426T>C (p.Ser1476Pro) rs763266925
NM_000267.3(NF1):c.4427C>T (p.Ser1476Phe)
NM_000267.3(NF1):c.4432A>G (p.Ile1478Val) rs764654925
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.4453_4454delinsTT (p.Ala1485Phe) rs1567862930
NM_000267.3(NF1):c.445A>G (p.Asn149Asp)
NM_000267.3(NF1):c.4460A>G (p.His1487Arg) rs1254695587
NM_000267.3(NF1):c.4462C>T (p.Arg1488Cys) rs864622348
NM_000267.3(NF1):c.4463G>A (p.Arg1488His) rs546073780
NM_000267.3(NF1):c.4466T>C (p.Leu1489Pro)
NM_000267.3(NF1):c.4466_4480del (p.Leu1489_Asn1493del) rs1555618846
NM_000267.3(NF1):c.4473G>C (p.Trp1491Cys) rs878853897
NM_000267.3(NF1):c.4475A>G (p.Asn1492Ser) rs113205862
NM_000267.3(NF1):c.4477A>G (p.Asn1493Asp) rs864622404
NM_000267.3(NF1):c.4485G>C (p.Glu1495Asp) rs1567863000
NM_000267.3(NF1):c.4492G>A (p.Gly1498Arg) rs1060500380
NM_000267.3(NF1):c.44G>A (p.Ser15Asn)
NM_000267.3(NF1):c.4508_4509delinsAA (p.Ser1503Lys) rs1555618860
NM_000267.3(NF1):c.4514+3A>G rs1060500246
NM_000267.3(NF1):c.4514+4A>G rs1555618863
NM_000267.3(NF1):c.4515-19A>G rs1555618994
NM_000267.3(NF1):c.451A>C (p.Asn151His) rs769391944
NM_000267.3(NF1):c.452A>G (p.Asn151Ser) rs1567817981
NM_000267.3(NF1):c.4538G>A (p.Arg1513Gln) rs867955218
NM_000267.3(NF1):c.4553T>C (p.Met1518Thr) rs1567863578
NM_000267.3(NF1):c.4559_4573del (p.Thr1520_Leu1525delinsMet) rs1064792912
NM_000267.3(NF1):c.4582C>G (p.Pro1528Ala) rs1555619025
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.4597G>A (p.Val1533Met) rs1319687326
NM_000267.3(NF1):c.4607C>G (p.Thr1536Arg) rs876660065
NM_000267.3(NF1):c.4609C>T (p.His1537Tyr) rs1468638747
NM_000267.3(NF1):c.4619G>A (p.Ser1540Asn) rs751414513
NM_000267.3(NF1):c.4627C>T (p.Leu1543Phe)
NM_000267.3(NF1):c.4637C>T (p.Ser1546Leu) rs1555619051
NM_000267.3(NF1):c.464G>A (p.Ser155Asn) rs1555606113
NM_000267.3(NF1):c.4661+3A>G rs781147524
NM_000267.3(NF1):c.4662-3T>C rs892441625
NM_000267.3(NF1):c.466C>T (p.Arg156Cys) rs755890242
NM_000267.3(NF1):c.4673A>C (p.His1558Pro)
NM_000267.3(NF1):c.467G>A (p.Arg156His) rs754096545
NM_000267.3(NF1):c.467G>T (p.Arg156Leu) rs754096545
NM_000267.3(NF1):c.4693G>A (p.Ala1565Thr) rs767438491
NM_000267.3(NF1):c.4693G>T (p.Ala1565Ser) rs767438491
NM_000267.3(NF1):c.46C>T (p.Arg16Cys) rs1057520334
NM_000267.3(NF1):c.4703C>T (p.Thr1568Met) rs185660700
NM_000267.3(NF1):c.4705T>G (p.Leu1569Val) rs1567865010
NM_000267.3(NF1):c.4707A>C (p.Leu1569Phe) rs1567865021
NM_000267.3(NF1):c.4718A>G (p.Tyr1573Cys) rs1060500303
NM_000267.3(NF1):c.4724C>G (p.Ala1575Gly) rs1567865042
NM_000267.3(NF1):c.4730C>A (p.Thr1577Asn) rs753453385
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>G (p.Thr159Ala) rs371192107
NM_000267.3(NF1):c.4760A>G (p.Tyr1587Cys) rs1555619417
NM_000267.3(NF1):c.4768C>A (p.Arg1590=)
NM_000267.3(NF1):c.4768C>T (p.Arg1590Trp) rs1060500316
NM_000267.3(NF1):c.4769G>A (p.Arg1590Gln) rs876659197
NM_000267.3(NF1):c.4772+5G>C rs786201306
NM_000267.3(NF1):c.4773-10T>G rs878853899
NM_000267.3(NF1):c.4773-3T>C rs372460369
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.4783G>A (p.Gly1595Ser) rs1555533271
NM_000267.3(NF1):c.4784G>A (p.Gly1595Asp)
NM_000267.3(NF1):c.4807A>G (p.Ile1603Val) rs1555533280
NM_000267.3(NF1):c.480G>A (p.Arg160=) rs1555607071
NM_000267.3(NF1):c.4823T>C (p.Leu1608Pro) rs1555533288
NM_000267.3(NF1):c.4834C>A (p.Pro1612Thr) rs1567611255
NM_000267.3(NF1):c.4838A>G (p.Tyr1613Cys)
NM_000267.3(NF1):c.484C>G (p.Gln162Glu) rs1555607073
NM_000267.3(NF1):c.4851A>G (p.Pro1617=)
NM_000267.3(NF1):c.4859T>C (p.Ile1620Thr) rs1567611281
NM_000267.3(NF1):c.4864G>A (p.Val1622Met) rs1060500381
NM_000267.3(NF1):c.4867G>A (p.Asp1623Asn)
NM_000267.3(NF1):c.4867G>C (p.Asp1623His) rs1131691123
NM_000267.3(NF1):c.4877A>C (p.His1626Pro) rs1555533307
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.4882G>A (p.Gly1628Arg) rs770124316
NM_000267.3(NF1):c.4886C>T (p.Pro1629Leu)
NM_000267.3(NF1):c.4886_4891del (p.Pro1629_Asn1631delinsHis) rs1567611339
NM_000267.3(NF1):c.4888A>C (p.Ser1630Arg) rs1555533314
NM_000267.3(NF1):c.4888A>T (p.Ser1630Cys) rs1555533314
NM_000267.3(NF1):c.4894C>T (p.Arg1632Cys) rs876659922
NM_000267.3(NF1):c.4895G>T (p.Arg1632Leu) rs763413441
NM_000267.3(NF1):c.4921T>C (p.Trp1641Arg) rs1555533328
NM_000267.3(NF1):c.493A>G (p.Thr165Ala) rs786203186
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.4952A>T (p.Asp1651Val) rs1555533338
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.4967T>A (p.Val1656Asp) rs1060500384
NM_000267.3(NF1):c.4970A>G (p.Tyr1657Cys) rs1555533347
NM_000267.3(NF1):c.4981T>C (p.Cys1661Arg)
NM_000267.3(NF1):c.4986C>G (p.Asn1662Lys)
NM_000267.3(NF1):c.4_5delinsTT (p.Ala2Phe) rs1555594471
NM_000267.3(NF1):c.5009A>C (p.Lys1670Thr)
NM_000267.3(NF1):c.5009A>G (p.Lys1670Arg) rs863224661
NM_000267.3(NF1):c.5020C>T (p.Arg1674Trp) rs1567611500
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.5035C>T (p.Leu1679Phe)
NM_000267.3(NF1):c.5039A>T (p.Lys1680Ile)
NM_000267.3(NF1):c.5044A>G (p.Ser1682Gly) rs1555533374
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.5053C>T (p.Leu1685Phe)
NM_000267.3(NF1):c.5060T>G (p.Phe1687Cys)
NM_000267.3(NF1):c.5063T>G (p.Ile1688Arg) rs876660316
NM_000267.3(NF1):c.5069G>T (p.Cys1690Phe) rs1567611549
NM_000267.3(NF1):c.5077A>G (p.Lys1693Glu)
NM_000267.3(NF1):c.5079A>G (p.Lys1693=) rs1555533379
NM_000267.3(NF1):c.5083G>A (p.Ala1695Thr) rs767469374
NM_000267.3(NF1):c.5083G>C (p.Ala1695Pro)
NM_000267.3(NF1):c.5089C>T (p.His1697Tyr) rs1555533381
NM_000267.3(NF1):c.5097G>C (p.Glu1699Asp) rs773378630
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.511A>C (p.Asn171His)
NM_000267.3(NF1):c.5120C>T (p.Ala1707Val) rs1555533395
NM_000267.3(NF1):c.5126C>T (p.Thr1709Ile)
NM_000267.3(NF1):c.5128T>G (p.Leu1710Val) rs876658602
NM_000267.3(NF1):c.512A>C (p.Asn171Thr)
NM_000267.3(NF1):c.512A>G (p.Asn171Ser) rs767500770
NM_000267.3(NF1):c.5132C>G (p.Ala1711Gly) rs202037436
NM_000267.3(NF1):c.514G>A (p.Val172Ile) rs1555607083
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.5162A>G (p.Asn1721Ser) rs745407845
NM_000267.3(NF1):c.5164G>C (p.Ala1722Pro) rs878853900
NM_000267.3(NF1):c.5167C>T (p.Leu1723Phe) rs1555533407
NM_000267.3(NF1):c.518A>T (p.Asp173Val)
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.51C>G (p.Phe17Leu)
NM_000267.3(NF1):c.5200A>G (p.Ile1734Val) rs370181275
NM_000267.3(NF1):c.5205+4A>G rs1555533418
NM_000267.3(NF1):c.5206-8C>G
NM_000267.3(NF1):c.5207T>C (p.Val1736Ala)
NM_000267.3(NF1):c.520G>A (p.Val174Ile)
NM_000267.3(NF1):c.520G>T (p.Val174Phe) rs1555607084
NM_000267.3(NF1):c.5221G>A (p.Val1741Ile) rs1060500290
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.5227G>T (p.Val1743Leu) 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.5236G>T (p.Ala1746Ser) 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.5252T>A (p.Val1751Asp)
NM_000267.3(NF1):c.5266G>T (p.Val1756Phe) rs876658562
NM_000267.3(NF1):c.5276A>G (p.Asn1759Ser) rs1411525800
NM_000267.3(NF1):c.5281A>G (p.Ile1761Val) rs1160436761
NM_000267.3(NF1):c.5288A>C (p.Tyr1763Ser) rs1060500280
NM_000267.3(NF1):c.5288A>T (p.Tyr1763Phe) rs1060500280
NM_000267.3(NF1):c.5294C>T (p.Ser1765Leu) rs1555533569
NM_000267.3(NF1):c.5295G>A (p.Ser1765=) rs373313111
NM_000267.3(NF1):c.5297A>C (p.Glu1766Ala) rs1555533570
NM_000267.3(NF1):c.529A>G (p.Ile177Val) rs766213678
NM_000267.3(NF1):c.5310C>G (p.Ile1770Met)
NM_000267.3(NF1):c.5314C>A (p.Leu1772Ile) rs761676110
NM_000267.3(NF1):c.5318T>C (p.Val1773Ala) rs142867979
NM_000267.3(NF1):c.5321A>G (p.Asp1774Gly) rs1567612446
NM_000267.3(NF1):c.5344A>G (p.Ile1782Val) rs559910904
NM_000267.3(NF1):c.5358C>T (p.Gly1786=) rs1060500279
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.5380C>G (p.Gln1794Glu) rs1555533587
NM_000267.3(NF1):c.5393C>T (p.Ala1798Val) rs1555533590
NM_000267.3(NF1):c.5395A>C (p.Ile1799Leu) rs786202459
NM_000267.3(NF1):c.5395A>G (p.Ile1799Val)
NM_000267.3(NF1):c.5396T>C (p.Ile1799Thr)
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.5414A>G (p.His1805Arg) rs878853902
NM_000267.3(NF1):c.5416A>G (p.Ile1806Val)
NM_000267.3(NF1):c.5417T>C (p.Ile1806Thr) rs1555533605
NM_000267.3(NF1):c.5418C>G (p.Ile1806Met) rs1555533607
NM_000267.3(NF1):c.5419C>G (p.Arg1807Gly)
NM_000267.3(NF1):c.5419C>T (p.Arg1807Trp) rs1555533609
NM_000267.3(NF1):c.5420G>A (p.Arg1807Gln) rs876660298
NM_000267.3(NF1):c.5426G>A (p.Arg1809His) rs771529172
NM_000267.3(NF1):c.5449T>C (p.Ser1817Pro) rs1555533619
NM_000267.3(NF1):c.5450C>G (p.Ser1817Cys) rs368654378
NM_000267.3(NF1):c.5460A>G (p.Gln1820=) rs151046636
NM_000267.3(NF1):c.5465C>T (p.Thr1822Ile) rs1567612632
NM_000267.3(NF1):c.5471T>G (p.Ile1824Ser) rs1060500339
NM_000267.3(NF1):c.5477C>T (p.Pro1826Leu) rs1555533631
NM_000267.3(NF1):c.5483A>T (p.Asp1828Val)
NM_000267.3(NF1):c.549C>G (p.Ile183Met)
NM_000267.3(NF1):c.5509G>A (p.Ala1837Thr) rs786203416
NM_000267.3(NF1):c.5509G>T (p.Ala1837Ser)
NM_000267.3(NF1):c.550A>C (p.Asn184His) rs1555607101
NM_000267.3(NF1):c.5524G>A (p.Gly1842Ser) rs1060500332
NM_000267.3(NF1):c.5525G>A (p.Gly1842Asp)
NM_000267.3(NF1):c.5547-4C>G rs1419030713
NM_000267.3(NF1):c.5573C>T (p.Ala1858Val) rs1555533845
NM_000267.3(NF1):c.5576T>C (p.Leu1859Ser) rs1567613595
NM_000267.3(NF1):c.5579C>T (p.Thr1860Ile) rs876658349
NM_000267.3(NF1):c.557A>T (p.Asp186Val) rs1567820771
NM_000267.3(NF1):c.5582G>A (p.Cys1861Tyr)
NM_000267.3(NF1):c.5583T>G (p.Cys1861Trp)
NM_000267.3(NF1):c.5598A>G (p.Lys1866=) rs149759456
NM_000267.3(NF1):c.5599A>T (p.Ile1867Phe) rs863224662
NM_000267.3(NF1):c.55G>A (p.Glu19Lys)
NM_000267.3(NF1):c.5605G>T (p.Gly1869Cys)
NM_000267.3(NF1):c.5606G>T (p.Gly1869Val) rs1567613630
NM_000267.3(NF1):c.5617G>C (p.Glu1873Gln) rs774893767
NM_000267.3(NF1):c.5631A>G (p.Leu1877=) rs1555533863
NM_000267.3(NF1):c.563C>T (p.Ala188Val) rs1060500309
NM_000267.3(NF1):c.5642C>T (p.Ala1881Val) rs1465309384
NM_000267.3(NF1):c.5648A>G (p.Asn1883Ser) rs864622647
NM_000267.3(NF1):c.5656T>C (p.Phe1886Leu) rs876660040
NM_000267.3(NF1):c.5657T>A (p.Phe1886Tyr) rs1567613677
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.5669T>A (p.Ile1890Asn)
NM_000267.3(NF1):c.5678C>A (p.Thr1893Lys) rs1555533873
NM_000267.3(NF1):c.567A>G (p.Lys189=) rs1567820796
NM_000267.3(NF1):c.5690A>G (p.Asn1897Ser) rs534249104
NM_000267.3(NF1):c.5705C>G (p.Thr1902Arg) rs786203824
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.5724G>T (p.Glu1908Asp) rs786202591
NM_000267.3(NF1):c.5749+3_5749+4delAA rs1555533888
NM_000267.3(NF1):c.5749+5G>A rs1555533889
NM_000267.3(NF1):c.5750G>A (p.Ser1917Asn) rs906075234
NM_000267.3(NF1):c.5752A>G (p.Ile1918Val)
NM_000267.3(NF1):c.575G>A (p.Arg192Gln) rs587781670
NM_000267.3(NF1):c.5779T>C (p.Tyr1927His)
NM_000267.3(NF1):c.5782A>T (p.Met1928Leu)
NM_000267.3(NF1):c.5788C>G (p.Pro1930Ala) rs1555534391
NM_000267.3(NF1):c.5800A>T (p.Asn1934Tyr) rs1567615782
NM_000267.3(NF1):c.5810G>T (p.Arg1937Leu)
NM_000267.3(NF1):c.581T>C (p.Leu194Pro)
NM_000267.3(NF1):c.5822A>G (p.His1941Arg) rs1555534402
NM_000267.3(NF1):c.5837A>G (p.Lys1946Arg) rs1567615807
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.5855C>G (p.Ala1952Gly)
NM_000267.3(NF1):c.586+4A>G
NM_000267.3(NF1):c.586+5G>C
NM_000267.3(NF1):c.586+5delG rs1567820838
NM_000267.3(NF1):c.5861T>C (p.Leu1954Pro) rs1555534411
NM_000267.3(NF1):c.586G>A (p.Glu196Lys) rs876659079
NM_000267.3(NF1):c.587-3C>T rs375188075
NM_000267.3(NF1):c.5872A>G (p.Ile1958Val) rs775480099
NM_000267.3(NF1):c.5872A>T (p.Ile1958Leu)
NM_000267.3(NF1):c.5876C>T (p.Thr1959Ile) rs1060500336
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.589A>G (p.Thr197Ala) rs1171626658
NM_000267.3(NF1):c.5911A>T (p.Ile1971Phe)
NM_000267.3(NF1):c.5921A>G (p.Lys1974Arg) rs1567615913
NM_000267.3(NF1):c.5929G>A (p.Gly1977Arg) rs1555534426
NM_000267.3(NF1):c.592G>A (p.Ala198Thr) rs1555608643
NM_000267.3(NF1):c.5938G>C (p.Gly1980Arg) rs199474751
NM_000267.3(NF1):c.5939G>A (p.Gly1980Glu) rs878853905
NM_000267.3(NF1):c.5939G>T (p.Gly1980Val) rs878853905
NM_000267.3(NF1):c.593C>A (p.Ala198Glu) rs863224663
NM_000267.3(NF1):c.593C>T (p.Ala198Val)
NM_000267.3(NF1):c.5943+4T>C rs754909198
NM_000267.3(NF1):c.5943+5_5943+25del rs1555534435
NM_000267.3(NF1):c.5944-6A>G rs775960363
NM_000267.3(NF1):c.5969T>C (p.Leu1990Pro) rs878853906
NM_000267.3(NF1):c.5974A>G (p.Ser1992Gly) rs876658710
NM_000267.3(NF1):c.5975G>A (p.Ser1992Asn) rs1567616663
NM_000267.3(NF1):c.5991T>G (p.Ser1997Arg) rs1555534600
NM_000267.3(NF1):c.5993C>T (p.Ala1998Val) rs1567616673
NM_000267.3(NF1):c.5999G>A (p.Gly2000Asp) rs1555534605
NM_000267.3(NF1):c.599A>T (p.Lys200Ile)
NM_000267.3(NF1):c.59A>C (p.Gln20Pro)
NM_000267.3(NF1):c.60+3A>T
NM_000267.3(NF1):c.60+5C>G rs879413062
NM_000267.3(NF1):c.6006G>C (p.Leu2002Phe) rs1555534607
NM_000267.3(NF1):c.6013A>G (p.Ile2005Val)
NM_000267.3(NF1):c.6019G>A (p.Ala2007Thr) rs767869530
NM_000267.3(NF1):c.6038C>T (p.Thr2013Ile) rs1567616695
NM_000267.3(NF1):c.6053C>T (p.Ala2018Val) rs1555534614
NM_000267.3(NF1):c.6055T>C (p.Ser2019Pro) rs1567616704
NM_000267.3(NF1):c.6084+5T>A
NM_000267.3(NF1):c.6084G>C (p.Lys2028Asn) rs1135402882
NM_000267.3(NF1):c.6095G>A (p.Arg2032Lys) rs1060500289
NM_000267.3(NF1):c.6095G>C (p.Arg2032Thr)
NM_000267.3(NF1):c.6098T>C (p.Met2033Thr) rs1555534665
NM_000267.3(NF1):c.6101G>C (p.Cys2034Ser)
NM_000267.3(NF1):c.6109A>G (p.Ile2037Val) rs201712827
NM_000267.3(NF1):c.6112G>A (p.Asp2038Asn) rs761029453
NM_000267.3(NF1):c.6116A>G (p.Lys2039Arg)
NM_000267.3(NF1):c.6133A>G (p.Thr2045Ala) rs1567616928
NM_000267.3(NF1):c.6140C>G (p.Thr2047Ser)
NM_000267.3(NF1):c.6149A>G (p.Gln2050Arg)
NM_000267.3(NF1):c.614A>G (p.Lys205Arg) rs1555608659
NM_000267.3(NF1):c.6164A>G (p.Asp2055Gly)
NM_000267.3(NF1):c.6167A>T (p.Asp2056Val) rs1555534684
NM_000267.3(NF1):c.616A>G (p.Lys206Glu) rs1060500269
NM_000267.3(NF1):c.6186C>G (p.Arg2062=) rs1567616975
NM_000267.3(NF1):c.618G>C (p.Lys206Asn) rs1567825917
NM_000267.3(NF1):c.6209A>G (p.Asn2070Ser) rs1555534696
NM_000267.3(NF1):c.6215C>G (p.Ser2072Cys) rs1555534698
NM_000267.3(NF1):c.6230C>T (p.Ala2077Val) rs764106639
NM_000267.3(NF1):c.6232C>T (p.His2078Tyr) rs1060500382
NM_000267.3(NF1):c.6236T>G (p.Leu2079Arg) rs1555534708
NM_000267.3(NF1):c.6244C>T (p.Leu2082Phe) rs1555534719
NM_000267.3(NF1):c.6247T>C (p.Phe2083Leu) rs876660000
NM_000267.3(NF1):c.6249C>G (p.Phe2083Leu) rs780728198
NM_000267.3(NF1):c.624_632del (p.Gln209_Ala211del) rs1555608666
NM_000267.3(NF1):c.6251A>C (p.His2084Pro) rs1555534726
NM_000267.3(NF1):c.6253G>A (p.Val2085Ile) rs755791578
NM_000267.3(NF1):c.6260C>T (p.Thr2087Ile) rs876658920
NM_000267.3(NF1):c.6271G>A (p.Ala2091Thr) rs749672954
NM_000267.3(NF1):c.6275C>T (p.Thr2092Ile)
NM_000267.3(NF1):c.62T>C (p.Leu21Pro) rs1567814403
NM_000267.3(NF1):c.6302C>T (p.Thr2101Ile) rs878853907
NM_000267.3(NF1):c.6305A>G (p.His2102Arg) rs112546213
NM_000267.3(NF1):c.6305A>T (p.His2102Leu)
NM_000267.3(NF1):c.6310C>G (p.Leu2104Val) rs786204236
NM_000267.3(NF1):c.6311T>C (p.Leu2104Pro)
NM_000267.3(NF1):c.6313G>A (p.Val2105Ile) rs1567617114
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.6341C>T (p.Thr2114Ile) rs1555534770
NM_000267.3(NF1):c.6361A>C (p.Ser2121Arg) rs1135402886
NM_000267.3(NF1):c.6363T>C (p.Ser2121=) rs1060500251
NM_000267.3(NF1):c.6364+5G>A rs1060500311
NM_000267.3(NF1):c.6365-3C>T rs374014162
NM_000267.3(NF1):c.6371C>T (p.Thr2124Ile)
NM_000267.3(NF1):c.6376C>A (p.Gln2126Lys) rs1555534859
NM_000267.3(NF1):c.6379G>A (p.Val2127Ile)
NM_000267.3(NF1):c.6407C>T (p.Ser2136Leu)
NM_000267.3(NF1):c.6425T>G (p.Leu2142Trp)
NM_000267.3(NF1):c.6458C>T (p.Ala2153Val) rs1555534865
NM_000267.3(NF1):c.6472C>T (p.Arg2158Cys) rs878853908
NM_000267.3(NF1):c.6473G>A (p.Arg2158His) rs772639479
NM_000267.3(NF1):c.647T>G (p.Leu216Arg)
NM_000267.3(NF1):c.6484C>A (p.Arg2162=)
NM_000267.3(NF1):c.6496T>C (p.Phe2166Leu) rs1555534876
NM_000267.3(NF1):c.6509C>T (p.Ser2170Phe)
NM_000267.3(NF1):c.6523A>G (p.Thr2175Ala) rs372169109
NM_000267.3(NF1):c.655-3T>C rs746584147
NM_000267.3(NF1):c.6560C>G (p.Ala2187Gly) rs1555534886
NM_000267.3(NF1):c.656C>G (p.Ala219Gly) rs1160353919
NM_000267.3(NF1):c.6572T>A (p.Ile2191Asn)
NM_000267.3(NF1):c.6574A>G (p.Met2192Val) rs864622330
NM_000267.3(NF1):c.6579+18A>G rs1555534893
NM_000267.3(NF1):c.6579+4T>C rs587781687
NM_000267.3(NF1):c.6579+5A>G rs1567617536
NM_000267.3(NF1):c.6579+6delG
NM_000267.3(NF1):c.6580-3T>A
NM_000267.3(NF1):c.6580-5T>G rs1555534907
NM_000267.3(NF1):c.6580-8T>A
NM_000267.3(NF1):c.6583T>A (p.Cys2195Ser)
NM_000267.3(NF1):c.6583T>C (p.Cys2195Arg) rs757736155
NM_000267.3(NF1):c.6584G>T (p.Cys2195Phe) rs1567617669
NM_000267.3(NF1):c.6593A>T (p.Asp2198Val) rs1567617676
NM_000267.3(NF1):c.6594T>G (p.Asp2198Glu) rs786203831
NM_000267.3(NF1):c.6595A>C (p.Ile2199Leu)
NM_000267.3(NF1):c.6595A>G (p.Ile2199Val)
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.6616G>A (p.Asp2206Asn)
NM_000267.3(NF1):c.6628G>A (p.Glu2210Lys) rs1024484381
NM_000267.3(NF1):c.6637C>G (p.Gln2213Glu) rs1567617727
NM_000267.3(NF1):c.6641+3A>G rs375560135
NM_000267.3(NF1):c.6641+4T>C rs1555534930
NM_000267.3(NF1):c.6642-3C>G rs1131691079
NM_000267.3(NF1):c.6653A>T (p.Gln2218Leu)
NM_000267.3(NF1):c.6686T>C (p.Val2229Ala) rs1567617869
NM_000267.3(NF1):c.6695G>A (p.Gly2232Glu) rs876659295
NM_000267.3(NF1):c.669G>T (p.Trp223Cys)
NM_000267.3(NF1):c.670G>C (p.Val224Leu) rs1567826116
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.6721G>T (p.Gly2241Trp) rs1392981001
NM_000267.3(NF1):c.6727A>T (p.Ile2243Leu) rs761213794
NM_000267.3(NF1):c.6731A>G (p.Lys2244Arg)
NM_000267.3(NF1):c.6731A>T (p.Lys2244Met) rs1060500258
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.6753C>T (p.Ser2251=) rs864622360
NM_000267.3(NF1):c.6756+5C>A rs876659499
NM_000267.3(NF1):c.6756+6T>C rs1407700643
NM_000267.3(NF1):c.6756G>A (p.Lys2252=) rs1060500373
NM_000267.3(NF1):c.6757-7C>A rs1555535020
NM_000267.3(NF1):c.6757G>T (p.Ala2253Ser) rs1555535023
NM_000267.3(NF1):c.6767G>A (p.Ser2256Asn)
NM_000267.3(NF1):c.6774A>C (p.Leu2258Phe) rs144287929
NM_000267.3(NF1):c.6776A>G (p.Lys2259Arg) rs773858629
NM_000267.3(NF1):c.677A>C (p.Asn226Thr)
NM_000267.3(NF1):c.6787A>G (p.Thr2263Ala)
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.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.6855T>A (p.Asn2285Lys)
NM_000267.3(NF1):c.6858+5T>C rs370402788
NM_000267.3(NF1):c.6859-3C>T rs876659438
NM_000267.3(NF1):c.6868C>G (p.Leu2290Val)
NM_000267.3(NF1):c.686A>G (p.Asp229Gly) rs1060500285
NM_000267.3(NF1):c.6873C>G (p.His2291Gln) rs1567618937
NM_000267.3(NF1):c.6886T>G (p.Trp2296Gly) rs1060500297
NM_000267.3(NF1):c.6889G>T (p.Val2297Leu) rs760528229
NM_000267.3(NF1):c.6892G>A (p.Ala2298Thr) rs786203881
NM_000267.3(NF1):c.6895G>A (p.Val2299Met) rs766323701
NM_000267.3(NF1):c.6910C>A (p.Leu2304Ile)
NM_000267.3(NF1):c.6923A>G (p.Asn2308Ser)
NM_000267.3(NF1):c.6927_6928insATGAGG (p.Tyr2310_Ser2311insMetArg)
NM_000267.3(NF1):c.6929A>T (p.Tyr2310Phe) rs1060500304
NM_000267.3(NF1):c.6934G>T (p.Ala2312Ser) rs1555535178
NM_000267.3(NF1):c.693_694delinsCT (p.Thr232Ser) rs1555608748
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.6946C>T (p.Leu2316Phe)
NM_000267.3(NF1):c.6949C>G (p.Leu2317Val)
NM_000267.3(NF1):c.6957A>G (p.Gln2319=) rs777399429
NM_000267.3(NF1):c.695C>T (p.Thr232Ile) rs769719064
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.6976A>G (p.Ser2326Gly) rs1060500318
NM_000267.3(NF1):c.6977G>C (p.Ser2326Thr) rs1567619102
NM_000267.3(NF1):c.697A>C (p.Lys233Gln) rs922257267
NM_000267.3(NF1):c.697A>G (p.Lys233Glu) rs922257267
NM_000267.3(NF1):c.6982C>G (p.Arg2328Gly)
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.6991A>G (p.Asn2331Asp)
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.7001G>A (p.Ser2334Asn) rs1555535399
NM_000267.3(NF1):c.7011A>G (p.Glu2337=) rs1388098913
NM_000267.3(NF1):c.7016T>G (p.Phe2339Cys) rs1567620390
NM_000267.3(NF1):c.7018A>G (p.Met2340Val) rs1022562410
NM_000267.3(NF1):c.7024A>G (p.Ile2342Val) rs137966859
NM_000267.3(NF1):c.7027C>T (p.Arg2343Trp)
NM_000267.3(NF1):c.7028G>A (p.Arg2343Gln) rs1555535407
NM_000267.3(NF1):c.7038G>A (p.Leu2346=) rs1567620421
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.706C>G (p.Gln236Glu)
NM_000267.3(NF1):c.7072G>A (p.Gly2358Arg) rs775476318
NM_000267.3(NF1):c.7079A>G (p.Asn2360Ser) rs878853912
NM_000267.3(NF1):c.707A>G (p.Gln236Arg)
NM_000267.3(NF1):c.7085A>G (p.Asn2362Ser) rs146296921
NM_000267.3(NF1):c.7087T>C (p.Ser2363Pro) rs1555535429
NM_000267.3(NF1):c.7093T>G (p.Phe2365Val)
NM_000267.3(NF1):c.7098C>G (p.Asn2366Lys) rs1555535444
NM_000267.3(NF1):c.7099T>A (p.Phe2367Ile)
NM_000267.3(NF1):c.7107G>C (p.Leu2369Phe) rs751081026
NM_000267.3(NF1):c.7107G>T (p.Leu2369Phe)
NM_000267.3(NF1):c.7114C>T (p.His2372Tyr)
NM_000267.3(NF1):c.7117C>G (p.Leu2373Val) rs1555535452
NM_000267.3(NF1):c.7120T>G (p.Leu2374Val) rs1567620503
NM_000267.3(NF1):c.7126+4A>C rs756834212
NM_000267.3(NF1):c.7126G>C (p.Gly2376Arg)
NM_000267.3(NF1):c.7127-5T>G rs748245325
NM_000267.3(NF1):c.712C>G (p.Pro238Ala) rs1060500365
NM_000267.3(NF1):c.7135C>T (p.His2379Tyr) rs1567623421
NM_000267.3(NF1):c.7136A>G (p.His2379Arg)
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.7160G>A (p.Arg2387Lys)
NM_000267.3(NF1):c.7165G>A (p.Val2389Ile) rs1060500372
NM_000267.3(NF1):c.7169_7195del (p.Arg2390_Val2399delinsIle) rs1567623439
NM_000267.3(NF1):c.7183_7185CTA[1] (p.Leu2396del) rs1555536023
NM_000267.3(NF1):c.7190C>T (p.Thr2397Ile) rs764022114
NM_000267.3(NF1):c.7195G>A (p.Val2399Ile)
NM_000267.3(NF1):c.7199A>C (p.Asn2400Thr) rs774339063
NM_000267.3(NF1):c.7199A>G (p.Asn2400Ser) rs774339063
NM_000267.3(NF1):c.7202A>G (p.Lys2401Arg)
NM_000267.3(NF1):c.7204C>T (p.His2402Tyr)
NM_000267.3(NF1):c.7218C>A (p.Asp2406Glu) rs1567623519
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.7258+6A>G
NM_000267.3(NF1):c.7276G>C (p.Glu2426Gln) rs878853914
NM_000267.3(NF1):c.7277_7279AAG[1] (p.Glu2427del) rs587781961
NM_000267.3(NF1):c.7278A>C (p.Glu2426Asp) rs878853915
NM_000267.3(NF1):c.7280A>C (p.Glu2427Ala)
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.7298G>C (p.Ser2433Thr) rs1555536127
NM_000267.3(NF1):c.730+5G>A rs1567826200
NM_000267.3(NF1):c.730+6G>C
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.730G>A (p.Glu244Lys) rs1567826188
NM_000267.3(NF1):c.7310G>A (p.Arg2437Lys) rs1555536130
NM_000267.3(NF1):c.7318C>G (p.Leu2440Val) rs1199046022
NM_000267.3(NF1):c.7318C>T (p.Leu2440Phe)
NM_000267.3(NF1):c.7318_7320CTT[2] (p.Leu2442del) rs786203184
NM_000267.3(NF1):c.7322T>C (p.Leu2441Pro) rs1060500302
NM_000267.3(NF1):c.7328C>T (p.Thr2443Ile)
NM_000267.3(NF1):c.732A>C (p.Glu244Asp) rs1567826603
NM_000267.3(NF1):c.7331A>G (p.Asp2444Gly) rs143474365
NM_000267.3(NF1):c.7333A>C (p.Ile2445Leu) rs748027595
NM_000267.3(NF1):c.7333A>G (p.Ile2445Val) rs748027595
NM_000267.3(NF1):c.7334T>C (p.Ile2445Thr) rs771915484
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>G (p.Glu2448Gly) rs1281096294
NM_000267.3(NF1):c.7352C>G (p.Pro2451Arg) rs786202184
NM_000267.3(NF1):c.7352C>T (p.Pro2451Leu)
NM_000267.3(NF1):c.7354A>G (p.Met2452Val) rs1555536144
NM_000267.3(NF1):c.7360A>G (p.Thr2454Ala)
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.7369A>G (p.Ile2457Val) rs759307070
NM_000267.3(NF1):c.736G>T (p.Ala246Ser)
NM_000267.3(NF1):c.7376A>G (p.His2459Arg) rs371151718
NM_000267.3(NF1):c.7383C>A (p.Asp2461Glu) rs876660614
NM_000267.3(NF1):c.7384C>T (p.Pro2462Ser)
NM_000267.3(NF1):c.7391A>G (p.Tyr2464Cys) rs1022605462
NM_000267.3(NF1):c.7393A>G (p.Arg2465Gly) rs752162999
NM_000267.3(NF1):c.7394+3A>G rs1555536170
NM_000267.3(NF1):c.7394+5G>A rs1555536171
NM_000267.3(NF1):c.7395-?_*3522+?dup
NM_000267.3(NF1):c.7402A>G (p.Lys2468Glu) rs1555536338
NM_000267.3(NF1):c.7403A>G (p.Lys2468Arg) rs864622249
NM_000267.3(NF1):c.740A>G (p.Glu247Gly) rs864622385
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.7433G>A (p.Gly2478Asp) rs375176282
NM_000267.3(NF1):c.7441G>C (p.Gly2481Arg) rs1555536357
NM_000267.3(NF1):c.7451C>T (p.Ala2484Val) rs1567625126
NM_000267.3(NF1):c.7457C>T (p.Thr2486Ile) rs149055633
NM_000267.3(NF1):c.7462C>T (p.Pro2488Ser) rs886052803
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.746T>C (p.Leu249Pro) rs1567826623
NM_000267.3(NF1):c.746T>G (p.Leu249Arg) rs1567826623
NM_000267.3(NF1):c.7471G>A (p.Gly2491Ser) rs766496842
NM_000267.3(NF1):c.7473C>T (p.Gly2491=) rs786203187
NM_000267.3(NF1):c.7481G>T (p.Ser2494Ile)
NM_000267.3(NF1):c.7487G>A (p.Arg2496Gln) rs755260088
NM_000267.3(NF1):c.7489G>A (p.Ala2497Thr) rs1567625163
NM_000267.3(NF1):c.7490C>A (p.Ala2497Asp) rs1060500265
NM_000267.3(NF1):c.7522C>T (p.Pro2508Ser) rs1555536370
NM_000267.3(NF1):c.7525T>C (p.Ser2509Pro) rs1567625190
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.753C>G (p.Asp251Glu) rs1567826636
NM_000267.3(NF1):c.7551T>C (p.Leu2517=) rs1555536374
NM_000267.3(NF1):c.7552+5G>A rs1555536382
NM_000267.3(NF1):c.7555A>G (p.Thr2519Ala) rs1555536632
NM_000267.3(NF1):c.7572T>A (p.Asp2524Glu) rs876659530
NM_000267.3(NF1):c.757G>T (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.7594G>C (p.Ala2532Pro) rs1555536644
NM_000267.3(NF1):c.7630A>G (p.Thr2544Ala) rs786202548
NM_000267.3(NF1):c.7637C>A (p.Pro2546His)
NM_000267.3(NF1):c.7637C>G (p.Pro2546Arg) rs754511534
NM_000267.3(NF1):c.7637C>T (p.Pro2546Leu) rs754511534
NM_000267.3(NF1):c.7649G>A (p.Arg2550Lys)
NM_000267.3(NF1):c.7654G>A (p.Ala2552Thr) rs1555536654
NM_000267.3(NF1):c.7661C>T (p.Thr2554Ile)
NM_000267.3(NF1):c.7679C>G (p.Thr2560Ser) rs757632129
NM_000267.3(NF1):c.768T>G (p.Phe256Leu)
NM_000267.3(NF1):c.7704G>C (p.Gln2568His) rs587782168
NM_000267.3(NF1):c.7718G>A (p.Arg2573His) rs774781617
NM_000267.3(NF1):c.7726T>C (p.Ser2576Pro) rs864622364
NM_000267.3(NF1):c.7730T>C (p.Val2577Ala) rs760531845
NM_000267.3(NF1):c.7741A>T (p.Asn2581Tyr) rs150657839
NM_000267.3(NF1):c.7744G>A (p.Val2582Ile)
NM_000267.3(NF1):c.7744G>C (p.Val2582Leu) rs766135206
NM_000267.3(NF1):c.7747C>G (p.Leu2583Val) rs776602307
NM_000267.3(NF1):c.7752G>A (p.Leu2584=) rs1555536703
NM_000267.3(NF1):c.7762G>A (p.Val2588Ile) rs786203848
NM_000267.3(NF1):c.7762G>C (p.Val2588Leu) rs786203848
NM_000267.3(NF1):c.7768A>G (p.Thr2590Ala)
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.7779G>T (p.Lys2593Asn) rs1555536710
NM_000267.3(NF1):c.7781T>A (p.Ile2594Asn) rs1555536711
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.778A>G (p.Thr260Ala) rs1466892954
NM_000267.3(NF1):c.7793T>G (p.Leu2598Arg)
NM_000267.3(NF1):c.779C>T (p.Thr260Ile) rs1567826665
NM_000267.3(NF1):c.7806+4A>G rs1567627046
NM_000267.3(NF1):c.7806+6G>A rs864622318
NM_000267.3(NF1):c.7807-8C>A rs372441422
NM_000267.3(NF1):c.7813C>G (p.Leu2605Val) rs1555536748
NM_000267.3(NF1):c.7825A>G (p.Thr2609Ala) rs1567627155
NM_000267.3(NF1):c.7826C>G (p.Thr2609Ser) rs1283946778
NM_000267.3(NF1):c.7828A>G (p.Thr2610Ala) rs199474793
NM_000267.3(NF1):c.7834G>A (p.Glu2612Lys)
NM_000267.3(NF1):c.7838T>C (p.Phe2613Ser)
NM_000267.3(NF1):c.7844A>C (p.Gln2615Pro)
NM_000267.3(NF1):c.784C>T (p.Arg262Cys) rs754343223
NM_000267.3(NF1):c.7851T>G (p.Ile2617Met)
NM_000267.3(NF1):c.7852C>G (p.Leu2618Val) rs1057518362
NM_000267.3(NF1):c.7856A>G (p.Tyr2619Cys)
NM_000267.3(NF1):c.785G>A (p.Arg262His) rs1555608957
NM_000267.3(NF1):c.7868C>G (p.Ala2623Gly)
NM_000267.3(NF1):c.787A>G (p.Lys263Glu)
NM_000267.3(NF1):c.7882G>A (p.Val2628Met) rs1555536761
NM_000267.3(NF1):c.7882G>C (p.Val2628Leu)
NM_000267.3(NF1):c.7886T>G (p.Phe2629Cys)
NM_000267.3(NF1):c.78A>T (p.Gly26=)
NM_000267.3(NF1):c.7900C>T (p.Pro2634Ser) rs587781791
NM_000267.3(NF1):c.7906G>C (p.Val2636Leu)
NM_000267.3(NF1):c.7907+2dup
NM_000267.3(NF1):c.7907+3A>G rs1567627282
NM_000267.3(NF1):c.7913A>C (p.Asn2638Thr)
NM_000267.3(NF1):c.7925C>G (p.Ser2642Cys) rs786202579
NM_000267.3(NF1):c.7929G>C (p.Lys2643Asn) rs1060500377
NM_000267.3(NF1):c.7937C>T (p.Thr2646Ile) rs786203669
NM_000267.3(NF1):c.7939C>G (p.Leu2647Val)
NM_000267.3(NF1):c.7957G>A (p.Asp2653Asn)
NM_000267.3(NF1):c.7987A>C (p.Ile2663Leu) rs1555536913
NM_000267.3(NF1):c.7997G>T (p.Ser2666Ile) rs1555536916
NM_000267.3(NF1):c.7999G>T (p.Val2667Leu) rs1567627780
NM_000267.3(NF1):c.7G>A (p.Ala3Thr)
NM_000267.3(NF1):c.8009A>G (p.His2670Arg)
NM_000267.3(NF1):c.8010T>G (p.His2670Gln) rs375468032
NM_000267.3(NF1):c.8017T>A (p.Ser2673Thr)
NM_000267.3(NF1):c.8017T>C (p.Ser2673Pro) rs876658554
NM_000267.3(NF1):c.8020C>T (p.Pro2674Ser) rs772707560
NM_000267.3(NF1):c.8028A>G (p.Gln2676=) rs760433938
NM_000267.3(NF1):c.8040T>G (p.Ser2680=) rs1555536935
NM_000267.3(NF1):c.8044C>A (p.Leu2682Met) rs955074155
NM_000267.3(NF1):c.8075G>A (p.Arg2692Gln) rs1170836879
NM_000267.3(NF1):c.8081C>T (p.Ala2694Val)
NM_000267.3(NF1):c.8087C>T (p.Pro2696Leu) rs778799019
NM_000267.3(NF1):c.8095A>G (p.Lys2699Glu)
NM_000267.3(NF1):c.8097G>C (p.Lys2699Asn) rs1555537030
NM_000267.3(NF1):c.8099A>G (p.Gln2700Arg) rs876657933
NM_000267.3(NF1):c.809A>G (p.Gln270Arg)
NM_000267.3(NF1):c.8120C>T (p.Ala2707Val) rs760973918
NM_000267.3(NF1):c.814A>G (p.Ile272Val) rs1555608971
NM_000267.3(NF1):c.8153T>C (p.Ile2718Thr) rs752541243
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.8181A>T (p.Glu2727Asp) rs878853919
NM_000267.3(NF1):c.8204T>A (p.Leu2735Gln) rs1555537241
NM_000267.3(NF1):c.8207_8231dup (p.Leu2745fs)
NM_000267.3(NF1):c.8225C>A (p.Pro2742His) rs878853920
NM_000267.3(NF1):c.8238_8259dup (p.Asn2754delinsGluProAlaTer)
NM_000267.3(NF1):c.823A>T (p.Ile275Phe) rs786202464
NM_000267.3(NF1):c.824T>C (p.Ile275Thr)
NM_000267.3(NF1):c.8260A>T (p.Asn2754Tyr) rs1555537252
NM_000267.3(NF1):c.8261A>C (p.Asn2754Thr) rs772090874
NM_000267.3(NF1):c.8261A>G (p.Asn2754Ser) rs772090874
NM_000267.3(NF1):c.8299T>G (p.Ser2767Ala)
NM_000267.3(NF1):c.8300C>T (p.Ser2767Phe) rs1567628713
NM_000267.3(NF1):c.8313A>C (p.Pro2771=) rs1028961967
NM_000267.3(NF1):c.8329A>T (p.Asn2777Tyr) rs1555538514
NM_000267.3(NF1):c.8330A>G (p.Asn2777Ser) rs1555538515
NM_000267.3(NF1):c.8344C>A (p.Pro2782Thr) rs779180729
NM_000267.3(NF1):c.8358C>A (p.His2786Gln) rs1326795798
NM_000267.3(NF1):c.8359T>C (p.Cys2787Arg)
NM_000267.3(NF1):c.8383G>A (p.Gly2795Arg) rs778233452
NM_000267.3(NF1):c.8393G>A (p.Ser2798Asn) rs934837854
NM_000267.3(NF1):c.8398G>A (p.Val2800Met) rs1567634549
NM_000267.3(NF1):c.83A>C (p.Gln28Pro) rs587782686
NM_000267.3(NF1):c.8406G>T (p.Lys2802Asn) rs1203883572
NM_000267.3(NF1):c.8414G>C (p.Ser2805Thr) rs1057523477
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.8427C>G (p.Phe2809Leu)
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.8434A>G (p.Asn2812Asp)
NM_000267.3(NF1):c.8435A>G (p.Asn2812Ser) rs1567634576
NM_000267.3(NF1):c.8452G>A (p.Val2818Met) rs368149035
NM_000267.3(NF1):c.845A>G (p.Gln282Arg) rs779034900
NM_000267.3(NF1):c.847G>A (p.Asp283Asn)
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.852A>G (p.Ile284Met) rs1567826762
NM_000267.3(NF1):c.853T>G (p.Ser285Ala) rs1555608981
NM_000267.3(NF1):c.862G>A (p.Val288Met) rs755670651
NM_000267.3(NF1):c.866T>C (p.Val289Ala)
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.884A>G (p.Asn295Ser) rs1555608994
NM_000267.3(NF1):c.885T>A (p.Asn295Lys) rs864622300
NM_000267.3(NF1):c.888+5G>A rs556444929
NM_000267.3(NF1):c.888+6G>T rs1555609000
NM_000267.3(NF1):c.888+789A>G
NM_000267.3(NF1):c.888G>A (p.Lys296=)
NM_000267.3(NF1):c.88A>C (p.Thr30Pro) rs1555604881
NM_000267.3(NF1):c.905G>A (p.Ser302Asn) rs786202746
NM_000267.3(NF1):c.911G>A (p.Arg304Gln)
NM_000267.3(NF1):c.913A>G (p.Lys305Glu) rs1567835041
NM_000267.3(NF1):c.923C>G (p.Ala308Gly) rs876660836
NM_000267.3(NF1):c.926G>A (p.Gly309Asp) rs1555610862
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.974T>G (p.Val325Gly)
NM_000267.3(NF1):c.976A>G (p.Lys326Glu)
NM_000267.3(NF1):c.978A>G (p.Lys326=) rs1555610891
NM_000267.3(NF1):c.97A>G (p.Lys33Glu) rs1060500324
NM_000267.3(NF1):c.980T>C (p.Leu327Pro) rs201624827
NM_000267.3(NF1):c.988G>C (p.Ala330Pro) rs199474767
NM_000267.3(NF1):c.98A>G (p.Lys33Arg) rs1555604887
NM_000267.3(NF1):c.99A>G (p.Lys33=) rs786203280
NM_001042492.2(NF1):c.2002-4_2002-3delTC rs786203664
NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) rs121913254
NM_002524.5(NRAS):c.25G>A (p.Val9Ile) rs1553244682
NM_002524.5(NRAS):c.320A>C (p.Asp107Ala)
NM_002524.5(NRAS):c.380C>T (p.Thr127Ile) rs779899354
NM_002524.5(NRAS):c.434C>T (p.Ser145Leu) rs1163400692
NM_002524.5(NRAS):c.461A>G (p.Asp154Gly) rs1429449890
NM_002524.5(NRAS):c.553C>T (p.Pro185Ser) rs374061873
NM_002524.5(NRAS):c.561G>A (p.Val187=)
NM_002524.5(NRAS):c.65A>G (p.Gln22Arg)
NM_002755.3(MAP2K1):c.1039G>A (p.Ala347Thr) rs746354996
NM_002755.3(MAP2K1):c.1062A>C (p.Gln354His)
NM_002755.3(MAP2K1):c.1123C>A (p.Leu375Ile) rs752538915
NM_002755.3(MAP2K1):c.1135A>G (p.Ile379Val)
NM_002755.3(MAP2K1):c.1168G>A (p.Ala390Thr) rs730880500
NM_002755.3(MAP2K1):c.1181_*2del (p.Ter394CysextTer?)
NM_002755.3(MAP2K1):c.126_128TGA[1] (p.Asp43del) rs1555416037
NM_002755.3(MAP2K1):c.292-3C>T rs55694358
NM_002755.3(MAP2K1):c.323G>A (p.Arg108Gln) rs727504819
NM_002755.3(MAP2K1):c.364A>G (p.Asn122Asp) rs876657651
NM_002755.3(MAP2K1):c.411C>T (p.Gly137=)
NM_002755.3(MAP2K1):c.56C>G (p.Ala19Gly) rs727504413
NM_002755.3(MAP2K1):c.631G>A (p.Val211Ile) rs727505206
NM_002755.3(MAP2K1):c.871A>G (p.Arg291Gly) rs747807884
NM_002755.3(MAP2K1):c.917C>T (p.Pro306Leu) rs1555420826
NM_002755.3(MAP2K1):c.961C>T (p.Pro321Ser)
NM_002834.4(PTPN11):c.1004A>C (p.Gln335Pro) rs886041622
NM_002834.4(PTPN11):c.1041A>G (p.Gln347=)
NM_002834.4(PTPN11):c.1057A>C (p.Ile353Leu)
NM_002834.4(PTPN11):c.1190C>T (p.Thr397Met) rs767503386
NM_002834.4(PTPN11):c.1216G>A (p.Val406Ile)
NM_002834.4(PTPN11):c.127C>T (p.Leu43Phe) rs1566164987
NM_002834.4(PTPN11):c.1281C>T (p.Gly427=) rs753173299
NM_002834.4(PTPN11):c.1327C>T (p.His443Tyr) rs779236638
NM_002834.4(PTPN11):c.1366G>A (p.Val456Met) rs397516796
NM_002834.4(PTPN11):c.14+6G>T
NM_002834.4(PTPN11):c.155C>T (p.Thr52Ile) rs397507503
NM_002834.4(PTPN11):c.1658C>T (p.Thr553Met) rs148176616
NM_002834.4(PTPN11):c.1675C>T (p.Pro559Ser) rs1060502526
NM_002834.4(PTPN11):c.1676C>G (p.Pro559Arg) rs1253971623
NM_002834.4(PTPN11):c.1678C>T (p.Leu560Phe) rs397516797
NM_002834.4(PTPN11):c.167T>C (p.Ile56Thr) rs1052382672
NM_002834.4(PTPN11):c.1682C>T (p.Pro561Leu) rs141140214
NM_002834.4(PTPN11):c.173A>G (p.Asn58Ser) rs751437780
NM_002834.4(PTPN11):c.223G>C (p.Ala75Pro) rs1555267561
NM_002834.4(PTPN11):c.333-3T>C rs146749153
NM_002834.4(PTPN11):c.369G>T (p.Glu123Asp) rs755619262
NM_002834.4(PTPN11):c.392A>G (p.Lys131Arg) rs397516805
NM_002834.4(PTPN11):c.418A>T (p.Ser140Cys) rs1060502527
NM_002834.4(PTPN11):c.642G>A (p.Gln214=) rs876661383
NM_002834.4(PTPN11):c.782T>G (p.Leu261Arg) rs765642157
NM_002834.4(PTPN11):c.931A>G (p.Met311Val) rs774939392
NM_002880.3(RAF1):c.-26-?_1370+?dup
NM_002880.3(RAF1):c.113A>C (p.Tyr38Ser) rs576041742
NM_002880.3(RAF1):c.1144C>T (p.Pro382Ser)
NM_002880.3(RAF1):c.1150C>G (p.Pro384Ala)
NM_002880.3(RAF1):c.118C>T (p.Arg40Cys) rs772390935
NM_002880.3(RAF1):c.1193G>T (p.Arg398Leu) rs730880382
NM_002880.3(RAF1):c.122G>A (p.Arg41Gln) rs145611571
NM_002880.3(RAF1):c.122G>T (p.Arg41Leu) rs145611571
NM_002880.3(RAF1):c.1247A>G (p.Asn416Ser)
NM_002880.3(RAF1):c.124_125delinsAT (p.Ala42Ile) rs876657965
NM_002880.3(RAF1):c.1272C>T (p.Cys424=) rs142942142
NM_002880.3(RAF1):c.133G>A (p.Asp45Asn)
NM_002880.3(RAF1):c.1349G>T (p.Arg450Leu)
NM_002880.3(RAF1):c.1355C>T (p.Thr452Met) rs555781462
NM_002880.3(RAF1):c.1517C>T (p.Thr506Ile) rs1315751104
NM_002880.3(RAF1):c.1556T>G (p.Met519Arg)
NM_002880.3(RAF1):c.1655A>G (p.Asn552Ser) rs775817988
NM_002880.3(RAF1):c.1668+4A>G rs771344560
NM_002880.3(RAF1):c.1688G>A (p.Arg563Gln) rs727504827
NM_002880.3(RAF1):c.1694A>G (p.Tyr565Cys)
NM_002880.3(RAF1):c.16G>A (p.Gly6Arg)
NM_002880.3(RAF1):c.1721A>G (p.Tyr574Cys) rs370242565
NM_002880.3(RAF1):c.1741A>G (p.Met581Val)
NM_002880.3(RAF1):c.1814C>T (p.Ser605Phe) rs730881004
NM_002880.3(RAF1):c.1901T>C (p.Ile634Thr)
NM_002880.3(RAF1):c.1904A>G (p.Asn635Ser)
NM_002880.3(RAF1):c.1913C>T (p.Thr638Met) rs730881007
NM_002880.3(RAF1):c.1936C>T (p.Pro646Ser) rs1060503152
NM_002880.3(RAF1):c.262G>T (p.Val88Leu) rs1559438429
NM_002880.3(RAF1):c.309C>G (p.His103Gln) rs1057520880
NM_002880.3(RAF1):c.365T>C (p.Ile122Thr) rs730881000
NM_002880.3(RAF1):c.370G>A (p.Glu124Lys) rs1060503153
NM_002880.3(RAF1):c.41G>A (p.Gly14Asp) rs757333753
NM_002880.3(RAF1):c.420C>G (p.Asn140Lys) rs775525868
NM_002880.3(RAF1):c.434C>T (p.Thr145Met) rs762448032
NM_002880.3(RAF1):c.462C>G (p.Ile154Met) rs367732360
NM_002880.3(RAF1):c.482A>G (p.Asn161Ser) rs775781057
NM_002880.3(RAF1):c.537A>G (p.Lys179=)
NM_002880.3(RAF1):c.589C>G (p.Pro197Ala)
NM_002880.3(RAF1):c.601A>G (p.Ile201Val) rs757700986
NM_002880.3(RAF1):c.622G>C (p.Ala208Pro)
NM_002880.3(RAF1):c.647G>A (p.Arg216His) rs761703202
NM_002880.3(RAF1):c.66T>G (p.Phe22Leu) rs397516824
NM_002880.3(RAF1):c.672G>T (p.Met224Ile) rs1553614191
NM_002880.3(RAF1):c.680+6T>C rs371846795
NM_002880.3(RAF1):c.681-5_681-3delCCT rs1553613814
NM_002880.3(RAF1):c.746G>T (p.Gly249Val) rs1559426289
NM_002880.3(RAF1):c.779C>T (p.Thr260Ile) rs869025501
NM_002880.3(RAF1):c.791A>T (p.His264Leu) rs1057517887
NM_002880.3(RAF1):c.835G>A (p.Asp279Asn) rs368796800
NM_002880.3(RAF1):c.848G>A (p.Ser283Asn)
NM_002880.3(RAF1):c.853A>G (p.Ser285Gly) rs150054973
NM_002880.3(RAF1):c.892A>C (p.Asn298His) rs878854567
NM_002880.3(RAF1):c.907A>G (p.Thr303Ala) rs775898894
NM_002880.3(RAF1):c.917C>T (p.Ser306Leu) rs886041231
NM_002880.3(RAF1):c.934G>A (p.Val312Met) rs555034652
NM_002880.3(RAF1):c.94A>G (p.Ile32Val) rs372738063
NM_002880.3(RAF1):c.952C>T (p.Arg318Trp)
NM_002880.3(RAF1):c.953G>A (p.Arg318Gln)
NM_002880.3(RAF1):c.958C>T (p.Pro320Ser)
NM_002880.3(RAF1):c.97G>A (p.Val33Ile)
NM_002880.3(RAF1):c.997C>T (p.Arg333Cys) rs551466727
NM_004333.6(BRAF):c.1022C>A (p.Pro341Gln) rs863224722
NM_004333.6(BRAF):c.1024A>G (p.Ile342Val) rs201481342
NM_004333.6(BRAF):c.1157A>G (p.Gln386Arg) rs1554401118
NM_004333.6(BRAF):c.1190G>A (p.Gly397Asp) rs1554400237
NM_004333.6(BRAF):c.1196C>T (p.Ser399Phe) rs1554400234
NM_004333.6(BRAF):c.138+3G>A rs1554430994
NM_004333.6(BRAF):c.1391G>A (p.Gly464Glu) rs121913348
NM_004333.6(BRAF):c.1411G>T (p.Val471Phe) rs121913376
NM_004333.6(BRAF):c.1595G>A (p.Cys532Tyr) rs397507479
NM_004333.6(BRAF):c.1643T>C (p.Phe548Ser) rs1562954580
NM_004333.6(BRAF):c.1661T>C (p.Ile554Thr) rs878854675
NM_004333.6(BRAF):c.1781A>T (p.Asp594Val) rs121913338
NM_004333.6(BRAF):c.1799T>G (p.Val600Gly) rs113488022
NM_004333.6(BRAF):c.2015G>T (p.Gly672Val) rs1428696172
NM_004333.6(BRAF):c.2125C>A (p.Gln709Lys) rs1554389828
NM_004333.6(BRAF):c.2279A>G (p.Tyr760Cys) rs1305119093
NM_004333.6(BRAF):c.316G>A (p.Gly106Arg) rs749247588
NM_004333.6(BRAF):c.358G>A (p.Val120Ile) rs766748977
NM_004333.6(BRAF):c.39G>C (p.Glu13Asp)
NM_004333.6(BRAF):c.41C>G (p.Pro14Arg) rs397507455
NM_004333.6(BRAF):c.437G>A (p.Arg146Gln) rs557241012
NM_004333.6(BRAF):c.533G>A (p.Arg178Gln) rs746348396
NM_004333.6(BRAF):c.68T>A (p.Met23Lys)
NM_004333.6(BRAF):c.722C>A (p.Thr241Lys) rs387906660
NM_004333.6(BRAF):c.83_88GCGCCG[2] (p.28_29GA[2]) rs397507458
NM_004333.6(BRAF):c.83_88GCGCCG[4] (p.28_29GA[4]) rs397507458
NM_004333.6(BRAF):c.83_88GCGCCG[5] (p.28_29GA[5]) rs397507458
NM_004333.6(BRAF):c.92C>G (p.Ala31Gly) rs397516906
NM_004985.5(KRAS):c.148A>G (p.Thr50Ala)
NM_004985.5(KRAS):c.154C>T (p.Leu52Phe) rs1555194041
NM_004985.5(KRAS):c.491G>A (p.Arg164Gln) rs372793780
NM_004985.5(KRAS):c.547_552del (p.Thr183_Lys184del) rs1339924833
NM_005188.3(CBL):c.1033C>G (p.Gln345Glu) rs202095002
NM_005188.3(CBL):c.1043A>G (p.Asp348Gly)
NM_005188.3(CBL):c.1074A>G (p.Gln358=) rs1060500678
NM_005188.3(CBL):c.107_109ACC[9] (p.His41_His42dup) rs373212940
NM_005188.3(CBL):c.1088T>G (p.Val363Gly)
NM_005188.3(CBL):c.108C>G (p.His36Gln)
NM_005188.3(CBL):c.1137A>G (p.Gln379=)
NM_005188.3(CBL):c.1139T>C (p.Leu380Pro) rs1377506801
NM_005188.3(CBL):c.1141T>C (p.Cys381Arg) rs757874631
NM_005188.3(CBL):c.1156G>A (p.Glu386Lys)
NM_005188.3(CBL):c.1165A>G (p.Lys389Glu) rs1060500676
NM_005188.3(CBL):c.1167G>T (p.Lys389Asn)
NM_005188.3(CBL):c.1202G>T (p.Cys401Phe)
NM_005188.3(CBL):c.1228-2A>G rs727504426
NM_005188.3(CBL):c.1259G>A (p.Arg420Gln) rs267606708
NM_005188.3(CBL):c.125A>T (p.His42Leu) rs730880433
NM_005188.3(CBL):c.1263T>G (p.Cys421Trp)
NM_005188.3(CBL):c.1277C>T (p.Thr426Ile) rs769547118
NM_005188.3(CBL):c.127_129dup (p.Leu43dup) rs1555225106
NM_005188.3(CBL):c.1288G>A (p.Val430Met)
NM_005188.3(CBL):c.1319G>T (p.Gly440Val)
NM_005188.3(CBL):c.1324C>A (p.Leu442Met) rs200508558
NM_005188.3(CBL):c.1346del (p.Gly449fs)
NM_005188.3(CBL):c.1364A>G (p.Tyr455Cys) rs1565872426
NM_005188.3(CBL):c.1365_1367TGA[5] (p.Asp460del) rs397507494
NM_005188.3(CBL):c.1394A>T (p.Asp465Val)
NM_005188.3(CBL):c.1423G>A (p.Gly475Ser) rs764599897
NM_005188.3(CBL):c.1432-10T>C
NM_005188.3(CBL):c.1460T>C (p.Met487Thr)
NM_005188.3(CBL):c.1477C>T (p.Leu493Phe) rs730880434
NM_005188.3(CBL):c.1511C>T (p.Pro504Leu) rs533554769
NM_005188.3(CBL):c.1528C>G (p.Pro510Ala) rs538054260
NM_005188.3(CBL):c.1552A>G (p.Thr518Ala) rs377734587
NM_005188.3(CBL):c.1564-3C>T rs1555230585
NM_005188.3(CBL):c.1647C>A (p.Asp549Glu) rs369030902
NM_005188.3(CBL):c.1676G>A (p.Arg559Gln)
NM_005188.3(CBL):c.1694T>C (p.Leu565Ser) rs1174693367
NM_005188.3(CBL):c.1753C>T (p.Arg585Cys) rs187952822
NM_005188.3(CBL):c.1754G>A (p.Arg585His) rs727504640
NM_005188.3(CBL):c.1765T>C (p.Ser589Pro) rs1555230612
NM_005188.3(CBL):c.1771C>G (p.Leu591Val) rs1060500679
NM_005188.3(CBL):c.1790A>G (p.Lys597Arg)
NM_005188.3(CBL):c.1793T>A (p.Val598Glu) rs1060500675
NM_005188.3(CBL):c.1795C>A (p.Pro599Thr) rs1340017837
NM_005188.3(CBL):c.1810A>G (p.Ser604Gly) rs1555230616
NM_005188.3(CBL):c.1847A>C (p.Asn616Thr)
NM_005188.3(CBL):c.1850G>A (p.Arg617Gln)
NM_005188.3(CBL):c.1850G>T (p.Arg617Leu) rs780457588
NM_005188.3(CBL):c.1871T>C (p.Leu624Ser) rs150550899
NM_005188.3(CBL):c.1891A>G (p.Arg631Gly) rs552590011
NM_005188.3(CBL):c.1942A>C (p.Ser648Arg) rs143264567
NM_005188.3(CBL):c.1945A>G (p.Met649Val) rs769423231
NM_005188.3(CBL):c.1957C>T (p.Pro653Ser)
NM_005188.3(CBL):c.2017A>G (p.Ile673Val) rs1439055502
NM_005188.3(CBL):c.202C>T (p.Arg68Trp) rs730880429
NM_005188.3(CBL):c.2055A>G (p.Lys685=) rs1454595224
NM_005188.3(CBL):c.2060C>T (p.Pro687Leu) rs146705974
NM_005188.3(CBL):c.2083G>A (p.Glu695Lys) rs143975631
NM_005188.3(CBL):c.2153G>A (p.Arg718Gln) rs144894769
NM_005188.3(CBL):c.2189C>T (p.Thr730Met) rs376848406
NM_005188.3(CBL):c.2222C>T (p.Ala741Val)
NM_005188.3(CBL):c.227C>T (p.Ala76Val)
NM_005188.3(CBL):c.2312A>T (p.Asp771Val) rs199788586
NM_005188.3(CBL):c.2338C>T (p.Pro780Ser) rs1555027886
NM_005188.3(CBL):c.2350G>A (p.Val784Met) rs140725852
NM_005188.3(CBL):c.2360G>A (p.Arg787His) rs200220863
NM_005188.3(CBL):c.2390G>C (p.Ser797Thr) rs747073805
NM_005188.3(CBL):c.2393C>T (p.Ser798Phe) rs587778158
NM_005188.3(CBL):c.23G>A (p.Ser8Asn) rs930860175
NM_005188.3(CBL):c.2414_2416dup (p.Asp806_Gly807insVal) rs777761446
NM_005188.3(CBL):c.2458C>G (p.Pro820Ala) rs1356499832
NM_005188.3(CBL):c.2461G>A (p.Glu821Lys)
NM_005188.3(CBL):c.248A>G (p.Tyr83Cys) rs1555226659
NM_005188.3(CBL):c.2513G>T (p.Gly838Val) rs144191570
NM_005188.3(CBL):c.2520T>G (p.Cys840Trp)
NM_005188.3(CBL):c.2537C>T (p.Pro846Leu) rs771831548
NM_005188.3(CBL):c.2588A>G (p.Asn863Ser) rs146250423
NM_005188.3(CBL):c.2614C>G (p.Gln872Glu)
NM_005188.3(CBL):c.2666A>G (p.Lys889Arg) rs1369884955
NM_005188.3(CBL):c.2692A>G (p.Ile898Val) rs397507499
NM_005188.3(CBL):c.269A>G (p.Asp90Gly) rs1555226661
NM_005188.3(CBL):c.292A>G (p.Ile98Val) rs1415440583
NM_005188.3(CBL):c.328G>A (p.Gly110Arg) rs1565859798
NM_005188.3(CBL):c.40G>A (p.Gly14Ser) rs1565851542
NM_005188.3(CBL):c.419T>G (p.Met140Arg) rs1555226684
NM_005188.3(CBL):c.43_44delinsCC (p.Ser15Pro) rs1555225091
NM_005188.3(CBL):c.446G>A (p.Arg149Gln)
NM_005188.3(CBL):c.493C>G (p.Leu165Val) rs1555229540
NM_005188.3(CBL):c.498A>C (p.Lys166Asn) rs1565870421
NM_005188.3(CBL):c.625C>G (p.Leu209Val) rs767162260
NM_005188.3(CBL):c.66G>A (p.Ser22=) rs1555225100
NM_005188.3(CBL):c.728T>C (p.Ile243Thr) rs1268100574
NM_005188.3(CBL):c.747+3A>G
NM_005188.3(CBL):c.748-3T>C rs1060500677
NM_005188.3(CBL):c.801C>G (p.Gly267=) rs727502913
NM_005188.3(CBL):c.80G>T (p.Gly27Val) rs933058944
NM_005188.3(CBL):c.838C>T (p.Arg280Trp)
NM_005188.3(CBL):c.895C>T (p.Arg299Cys) rs1053471259
NM_005343.4(HRAS):c.106A>G (p.Ile36Val) rs1060502663
NM_005343.4(HRAS):c.111+6C>T rs377130570
NM_005343.4(HRAS):c.174_192del (p.Gly60fs) rs878854757
NM_005343.4(HRAS):c.175G>A (p.Ala59Thr) rs727503093
NM_005343.4(HRAS):c.178G>A (p.Gly60Ser)
NM_005343.4(HRAS):c.186_206dup (p.Glu62_Arg68dup) rs1554884966
NM_005343.4(HRAS):c.203G>A (p.Arg68Gln) rs730880461
NM_005343.4(HRAS):c.238T>A (p.Cys80Ser) rs1370566417
NM_005343.4(HRAS):c.275A>C (p.Asp92Ala)
NM_005343.4(HRAS):c.290+6C>A rs878854758
NM_005343.4(HRAS):c.290+9C>G
NM_005343.4(HRAS):c.302A>G (p.Lys101Arg) rs1131691997
NM_005343.4(HRAS):c.317C>G (p.Ser106Trp) rs730880462
NM_005343.4(HRAS):c.317C>T (p.Ser106Leu) rs730880462
NM_005343.4(HRAS):c.31G>A (p.Ala11Thr) rs727504496
NM_005343.4(HRAS):c.332T>C (p.Met111Thr) rs1564789063
NM_005343.4(HRAS):c.367C>T (p.Arg123Cys) rs369106578
NM_005343.4(HRAS):c.368G>C (p.Arg123Pro) rs730880464
NM_005343.4(HRAS):c.382C>T (p.Arg128Trp)
NM_005343.4(HRAS):c.383G>C (p.Arg128Pro) rs1554884794
NM_005343.4(HRAS):c.388G>C (p.Ala130Pro) rs1564788957
NM_005343.4(HRAS):c.391C>T (p.Gln131Ter) rs376688893
NM_005343.4(HRAS):c.394G>A (p.Asp132Asn)
NM_005343.4(HRAS):c.397C>T (p.Leu133Phe) rs776888712
NM_005343.4(HRAS):c.398T>A (p.Leu133His) rs766801436
NM_005343.4(HRAS):c.401C>T (p.Ala134Val) rs397517141
NM_005343.4(HRAS):c.412G>A (p.Gly138Ser) rs397517142
NM_005343.4(HRAS):c.413G>A (p.Gly138Asp) rs1554884772
NM_005343.4(HRAS):c.418C>T (p.Pro140Ser) rs144001095
NM_005343.4(HRAS):c.41T>G (p.Val14Gly)
NM_005343.4(HRAS):c.424A>C (p.Ile142Leu) rs1564788848
NM_005343.4(HRAS):c.445C>T (p.Arg149Trp) rs1554884750
NM_005343.4(HRAS):c.451-3C>T
NM_005343.4(HRAS):c.452G>C (p.Gly151Ala) rs1362209698
NM_005343.4(HRAS):c.45C>T (p.Gly15=) rs727504614
NM_005343.4(HRAS):c.460G>A (p.Asp154Asn) rs745497215
NM_005343.4(HRAS):c.461A>T (p.Asp154Val) rs1434040739
NM_005343.4(HRAS):c.473C>T (p.Thr158Met) rs587778400
NM_005343.4(HRAS):c.481C>T (p.Arg161Cys)
NM_005343.4(HRAS):c.487A>T (p.Ile163Phe) rs1564787934
NM_005343.4(HRAS):c.490C>T (p.Arg164Trp)
NM_005343.4(HRAS):c.498C>A (p.His166Gln) rs878854760
NM_005343.4(HRAS):c.4A>G (p.Thr2Ala) rs878854761
NM_005343.4(HRAS):c.505C>T (p.Arg169Trp) rs151229168
NM_005343.4(HRAS):c.506G>A (p.Arg169Gln) rs142218590
NM_005343.4(HRAS):c.508A>T (p.Lys170Ter) rs372936166
NM_005343.4(HRAS):c.518C>T (p.Pro173Leu) rs1171786943
NM_005343.4(HRAS):c.520C>G (p.Pro174Ala)
NM_005343.4(HRAS):c.532G>C (p.Gly178Arg)
NM_005343.4(HRAS):c.538G>A (p.Gly180Ser)
NM_005343.4(HRAS):c.546G>A (p.Met182Ile) rs748639813
NM_005343.4(HRAS):c.552dup (p.Lys185fs) rs1554884418
NM_005343.4(HRAS):c.5C>T (p.Thr2Met)
NM_005633.3(SOS1):c.1007A>G (p.Gln336Arg) rs765028553
NM_005633.3(SOS1):c.1008A>G (p.Gln336=)
NM_005633.3(SOS1):c.1018C>T (p.Pro340Ser) rs190222208
NM_005633.3(SOS1):c.1097A>T (p.Asp366Val)
NM_005633.3(SOS1):c.115G>A (p.Glu39Lys)
NM_005633.3(SOS1):c.1202+5A>G rs1021449471
NM_005633.3(SOS1):c.124G>A (p.Asp42Asn)
NM_005633.3(SOS1):c.1269C>G (p.Asn423Lys) rs138459502
NM_005633.3(SOS1):c.1271A>G (p.Glu424Gly) rs730881042
NM_005633.3(SOS1):c.1276C>A (p.Gln426Lys) rs1558474706
NM_005633.3(SOS1):c.1352C>G (p.Thr451Arg) rs730880218
NM_005633.3(SOS1):c.1370A>G (p.His457Arg) rs1060503524
NM_005633.3(SOS1):c.1490G>A (p.Arg497Gln) rs371314838
NM_005633.3(SOS1):c.1558G>A (p.Asp520Asn)
NM_005633.3(SOS1):c.1646C>A (p.Thr549Lys) rs730881046
NM_005633.3(SOS1):c.1655G>T (p.Arg552Met) rs397517154
NM_005633.3(SOS1):c.1720G>A (p.Val574Ile) rs727504641
NM_005633.3(SOS1):c.1772A>G (p.Asn591Ser) rs757213444
NM_005633.3(SOS1):c.1798A>C (p.Ile600Leu)
NM_005633.3(SOS1):c.1829T>C (p.Ile610Thr) rs776146535
NM_005633.3(SOS1):c.1850T>C (p.Met617Thr) rs775105134
NM_005633.3(SOS1):c.1867T>G (p.Phe623Val) rs727505093
NM_005633.3(SOS1):c.1931T>C (p.Ile644Thr) rs769891933
NM_005633.3(SOS1):c.2010G>C (p.Leu670Phe) rs200712930
NM_005633.3(SOS1):c.2012G>C (p.Ser671Thr) rs1060503525
NM_005633.3(SOS1):c.2089G>T (p.Val697Leu)
NM_005633.3(SOS1):c.2097C>A (p.His699Gln)
NM_005633.3(SOS1):c.2137C>A (p.Arg713=)
NM_005633.3(SOS1):c.2156G>C (p.Gly719Ala) rs200794965
NM_005633.3(SOS1):c.2165G>A (p.Arg722Lys) rs142666652
NM_005633.3(SOS1):c.2167+1G>A rs1558469557
NM_005633.3(SOS1):c.21C>G (p.Pro7=) rs727504845
NM_005633.3(SOS1):c.2312T>C (p.Ile771Thr)
NM_005633.3(SOS1):c.233T>G (p.Phe78Cys) rs201352584
NM_005633.3(SOS1):c.244A>G (p.Ile82Val) rs397517157
NM_005633.3(SOS1):c.2489A>G (p.Asn830Ser) rs397517158
NM_005633.3(SOS1):c.283G>A (p.Glu95Lys) rs1558493384
NM_005633.3(SOS1):c.2944C>A (p.Arg982=) rs1553351455
NM_005633.3(SOS1):c.2966G>A (p.Arg989Lys) rs202043599
NM_005633.3(SOS1):c.3257C>A (p.Pro1086Gln)
NM_005633.3(SOS1):c.3260dup (p.Leu1087fs) rs1558459711
NM_005633.3(SOS1):c.3269C>T (p.Pro1090Leu) rs730881034
NM_005633.3(SOS1):c.3274G>A (p.Ala1092Thr)
NM_005633.3(SOS1):c.3286T>A (p.Ser1096Thr) rs376722127
NM_005633.3(SOS1):c.3322G>A (p.Asp1108Asn) rs199856844
NM_005633.3(SOS1):c.332A>G (p.His111Arg)
NM_005633.3(SOS1):c.3347-1G>A rs141565234
NM_005633.3(SOS1):c.3392G>A (p.Arg1131Lys)
NM_005633.3(SOS1):c.3412A>G (p.Ile1138Val) rs56248239
NM_005633.3(SOS1):c.3418T>A (p.Leu1140Ile) rs375550588
NM_005633.3(SOS1):c.3440T>C (p.Val1147Ala) rs1558455818
NM_005633.3(SOS1):c.350T>G (p.Val117Gly) rs201085754
NM_005633.3(SOS1):c.3598_3599delinsAC (p.Asp1200Thr)
NM_005633.3(SOS1):c.3600C>G (p.Asp1200Glu) rs141594736
NM_005633.3(SOS1):c.3602G>A (p.Arg1201Gln)
NM_005633.3(SOS1):c.3709C>G (p.Pro1237Ala) rs371408734
NM_005633.3(SOS1):c.3721A>G (p.Lys1241Glu) rs367693130
NM_005633.3(SOS1):c.3729C>G (p.Asp1243Glu) rs730881026
NM_005633.3(SOS1):c.3763C>A (p.Pro1255Thr) rs972166211
NM_005633.3(SOS1):c.3778C>G (p.Pro1260Ala) rs779336305
NM_005633.3(SOS1):c.3802G>A (p.Gly1268Ser) rs730881051
NM_005633.3(SOS1):c.3836C>T (p.Thr1279Ile)
NM_005633.3(SOS1):c.3905T>C (p.Ile1302Thr) rs750296853
NM_005633.3(SOS1):c.3946C>G (p.His1316Asp) rs371024396
NM_005633.3(SOS1):c.512T>G (p.Val171Gly) rs397517174
NM_005633.3(SOS1):c.558_562del (p.Leu186fs) rs1553362269
NM_005633.3(SOS1):c.643T>C (p.Tyr215His) rs730881039
NM_005633.3(SOS1):c.746T>C (p.Ile249Thr) rs1324979194
NM_005633.3(SOS1):c.899G>A (p.Arg300Gln) rs754374236
NM_005633.3(SOS1):c.985G>A (p.Glu329Lys) rs756679265
NM_006270.5(RRAS):c.145T>C (p.Phe49Leu) rs151014532
NM_006270.5(RRAS):c.158A>T (p.Tyr53Phe)
NM_006270.5(RRAS):c.167C>G (p.Ser56Cys)
NM_006270.5(RRAS):c.175G>C (p.Asp59His)
NM_006270.5(RRAS):c.338G>A (p.Arg113Gln)
NM_006270.5(RRAS):c.371C>T (p.Thr124Met) rs369508242
NM_006270.5(RRAS):c.400G>A (p.Asp134Asn)
NM_006270.5(RRAS):c.409G>A (p.Val137Ile) rs757080959
NM_006270.5(RRAS):c.427A>T (p.Lys143Ter)
NM_006270.5(RRAS):c.454-6C>T rs1568436933
NM_006270.5(RRAS):c.457C>A (p.Pro153Thr)
NM_006270.5(RRAS):c.472_473insTT (p.Ser158fs)
NM_006270.5(RRAS):c.49G>T (p.Gly17Trp)
NM_006270.5(RRAS):c.515C>T (p.Ser172Leu) rs754342165
NM_006270.5(RRAS):c.572G>A (p.Arg191Gln)
NM_006270.5(RRAS):c.623A>G (p.Lys208Arg) rs1568436746
NM_006270.5(RRAS):c.631G>A (p.Gly211Arg)
NM_006270.5(RRAS):c.649C>G (p.Leu217Val)
NM_006270.5(RRAS):c.64G>T (p.Gly22Trp) rs754976061
NM_006270.5(RRAS):c.74C>T (p.Pro25Leu)
NM_006912.6(RIT1):c.112A>G (p.Thr38Ala) rs1557962699
NM_006912.6(RIT1):c.13A>T (p.Thr5Ser)
NM_006912.6(RIT1):c.153T>G (p.Asp51Glu)
NM_006912.6(RIT1):c.244T>A (p.Phe82Ile) rs869025194
NM_006912.6(RIT1):c.334C>T (p.Arg112Cys) rs375724784
NM_006912.6(RIT1):c.461G>A (p.Arg154Gln)
NM_006912.6(RIT1):c.640_643AAGA[1] (p.Lys215fs) rs766063111
NM_006912.6(RIT1):c.67A>C (p.Lys23Gln) rs869312687
NM_006939.4(SOS2):c.1146A>G (p.Gln382=) rs1178247373
NM_006939.4(SOS2):c.1868G>A (p.Arg623His) rs138459515
NM_006939.4(SOS2):c.2120A>G (p.Glu707Gly) rs369462490
NM_006939.4(SOS2):c.2128G>C (p.Glu710Gln) rs768829374
NM_006939.4(SOS2):c.2168C>T (p.Ala723Val) rs1566827698
NM_006939.4(SOS2):c.2221G>A (p.Ala741Thr)
NM_006939.4(SOS2):c.2246A>G (p.Asn749Ser) rs761689009
NM_006939.4(SOS2):c.2261G>A (p.Ser754Asn)
NM_006939.4(SOS2):c.2304G>T (p.Gln768His)
NM_006939.4(SOS2):c.2366T>C (p.Leu789Ser)
NM_006939.4(SOS2):c.2384+5A>G rs376903120
NM_006939.4(SOS2):c.2396C>T (p.Pro799Leu)
NM_006939.4(SOS2):c.2443A>G (p.Asn815Asp) rs886041958
NM_006939.4(SOS2):c.257C>T (p.Ala86Val)
NM_006939.4(SOS2):c.2600A>G (p.Asn867Ser) rs561495878
NM_006939.4(SOS2):c.2602G>A (p.Gly868Ser) rs751419448
NM_006939.4(SOS2):c.2605G>A (p.Val869Ile)
NM_006939.4(SOS2):c.2606T>C (p.Val869Ala)
NM_006939.4(SOS2):c.2758A>G (p.Ile920Val)
NM_006939.4(SOS2):c.290G>A (p.Arg97Gln)
NM_006939.4(SOS2):c.2957G>A (p.Arg986Lys) rs772746106
NM_006939.4(SOS2):c.2969A>G (p.Glu990Gly)
NM_006939.4(SOS2):c.2983A>G (p.Met995Val)
NM_006939.4(SOS2):c.3235A>G (p.Thr1079Ala) rs61755576
NM_006939.4(SOS2):c.3266C>A (p.Pro1089Gln)
NM_006939.4(SOS2):c.3275C>T (p.Pro1092Leu)
NM_006939.4(SOS2):c.3338-4A>G rs777684425
NM_006939.4(SOS2):c.3383C>G (p.Ser1128Cys) rs1566815476
NM_006939.4(SOS2):c.3403A>G (p.Ser1135Gly)
NM_006939.4(SOS2):c.3503C>A (p.Ser1168Tyr) rs143166880
NM_006939.4(SOS2):c.3560C>T (p.Pro1187Leu)
NM_006939.4(SOS2):c.3584C>T (p.Ala1195Val) rs753151750
NM_006939.4(SOS2):c.3761C>G (p.Thr1254Arg) rs772587016
NM_006939.4(SOS2):c.3769A>G (p.Asn1257Asp) rs150393358
NM_006939.4(SOS2):c.3781A>C (p.Thr1261Pro) rs1555367637
NM_006939.4(SOS2):c.432G>A (p.Leu144=)
NM_006939.4(SOS2):c.533A>C (p.Gln178Pro) rs1273376869
NM_006939.4(SOS2):c.622G>T (p.Ala208Ser) rs61755579
NM_006939.4(SOS2):c.674G>A (p.Arg225Gln) rs780580623
NM_006939.4(SOS2):c.714T>G (p.Ser238=)
NM_006939.4(SOS2):c.721G>A (p.Glu241Lys)
NM_006939.4(SOS2):c.780G>T (p.Leu260Phe) rs1348457314
NM_006939.4(SOS2):c.839G>C (p.Cys280Ser)
NM_007373.3(SHOC2):c.1004G>A (p.Ser335Asn)
NM_007373.3(SHOC2):c.1239G>T (p.Gln413His) rs200215822
NM_007373.3(SHOC2):c.1595G>C (p.Ser532Thr) rs370798940
NM_007373.3(SHOC2):c.1600C>G (p.Pro534Ala) rs1060501926
NM_007373.3(SHOC2):c.1682T>C (p.Val561Ala) rs776628753
NM_007373.3(SHOC2):c.1689G>T (p.Gly563=)
NM_007373.3(SHOC2):c.170C>T (p.Ser57Phe) rs536611911
NM_007373.3(SHOC2):c.1744G>A (p.Val582Ile) rs1564732203
NM_007373.3(SHOC2):c.181C>A (p.Gln61Lys) rs1564714635
NM_007373.3(SHOC2):c.355A>G (p.Ile119Val) rs147068827
NM_007373.3(SHOC2):c.52G>A (p.Val18Ile)
NM_007373.3(SHOC2):c.610A>G (p.Ile204Val) rs200015085
NM_007373.3(SHOC2):c.71G>A (p.Arg24Lys) rs1564714561
NM_007373.3(SHOC2):c.74A>G (p.Glu25Gly) rs730881019
NM_007373.3(SHOC2):c.842-3C>T rs1485718634
NM_007373.3(SHOC2):c.950A>G (p.Asn317Ser) rs1060501927
NM_030662.3(MAP2K2):c.1006G>A (p.Gly336Ser)
NM_030662.3(MAP2K2):c.1085T>C (p.Met362Thr) rs730880513
NM_030662.3(MAP2K2):c.1111C>T (p.Arg371Trp)
NM_030662.3(MAP2K2):c.1112G>A (p.Arg371Gln) rs730880514
NM_030662.3(MAP2K2):c.1190G>A (p.Arg397His)
NM_030662.3(MAP2K2):c.191_192delinsCT (p.Val64Ala) rs1555698682
NM_030662.3(MAP2K2):c.195C>T (p.Gly65=)
NM_030662.3(MAP2K2):c.217G>A (p.Glu73Lys) rs187018595
NM_030662.3(MAP2K2):c.26T>C (p.Leu9Pro)
NM_030662.3(MAP2K2):c.281C>T (p.Ser94Leu) rs202220799
NM_030662.3(MAP2K2):c.288_290CAT[1] (p.Ile97del) rs1555698652
NM_030662.3(MAP2K2):c.289A>T (p.Ile97Phe) rs373579939
NM_030662.3(MAP2K2):c.325C>G (p.Pro109Ala) rs1060502983
NM_030662.3(MAP2K2):c.376A>C (p.Asn126His)
NM_030662.3(MAP2K2):c.380C>T (p.Ser127Leu) rs1568260052
NM_030662.3(MAP2K2):c.453C>G (p.Asp151Glu) rs17851657
NM_030662.3(MAP2K2):c.491G>T (p.Arg164Met)
NM_030662.3(MAP2K2):c.578G>A (p.Arg193Gln) rs530342723
NM_030662.3(MAP2K2):c.692G>A (p.Arg231His) rs730880511
NM_030662.3(MAP2K2):c.692G>T (p.Arg231Leu) rs730880511
NM_030662.3(MAP2K2):c.706-1_706delinsTT
NM_030662.3(MAP2K2):c.784G>A (p.Val262Ile) rs138873805
NM_030662.3(MAP2K2):c.834C>G (p.Ile278Met) rs766540227
NM_030662.3(MAP2K2):c.842G>A (p.Arg281Gln) rs1332074575
NM_030662.3(MAP2K2):c.856G>A (p.Gly286Arg) rs730880523
NM_030662.3(MAP2K2):c.865G>A (p.Gly289Arg) rs1555696725
NM_030662.3(MAP2K2):c.890G>A (p.Arg297Gln) rs140111079
NM_030662.3(MAP2K2):c.918C>T (p.Ser306=) rs777196833
NM_152594.3(SPRED1):c.1000C>T (p.Arg334Cys) rs765603808
NM_152594.3(SPRED1):c.1006G>A (p.Val336Ile) rs373477920
NM_152594.3(SPRED1):c.1031A>G (p.His344Arg) rs376679136
NM_152594.3(SPRED1):c.1076T>A (p.Ile359Asn) rs763738243
NM_152594.3(SPRED1):c.115C>G (p.Leu39Val) rs1555389691
NM_152594.3(SPRED1):c.1202G>T (p.Cys401Phe) rs779058019
NM_152594.3(SPRED1):c.1225_1226delinsTT (p.Ala409Phe) rs1566877075
NM_152594.3(SPRED1):c.1283G>A (p.Arg428His)
NM_152594.3(SPRED1):c.1289G>C (p.Gly430Ala)
NM_152594.3(SPRED1):c.1295C>T (p.Ala432Val) rs200871227
NM_152594.3(SPRED1):c.135C>G (p.Phe45Leu)
NM_152594.3(SPRED1):c.149A>T (p.Gln50Leu)
NM_152594.3(SPRED1):c.178A>G (p.Ile60Val) rs761830220
NM_152594.3(SPRED1):c.181C>T (p.Arg61Cys)
NM_152594.3(SPRED1):c.182G>A (p.Arg61His) rs750686148
NM_152594.3(SPRED1):c.221G>T (p.Cys74Phe) rs1412213561
NM_152594.3(SPRED1):c.274T>C (p.Trp92Arg) rs1566867214
NM_152594.3(SPRED1):c.287A>G (p.Asp96Gly) rs1555391039
NM_152594.3(SPRED1):c.302T>C (p.Leu101Pro)
NM_152594.3(SPRED1):c.302T>G (p.Leu101Arg)
NM_152594.3(SPRED1):c.305C>G (p.Thr102Arg) rs754706111
NM_152594.3(SPRED1):c.315T>G (p.Ser105Arg) rs1566867263
NM_152594.3(SPRED1):c.376+9T>G rs1555391063
NM_152594.3(SPRED1):c.395A>G (p.Asn132Ser)
NM_152594.3(SPRED1):c.401C>G (p.Ala134Gly)
NM_152594.3(SPRED1):c.403G>C (p.Glu135Gln)
NM_152594.3(SPRED1):c.406G>A (p.Gly136Arg) rs1555391158
NM_152594.3(SPRED1):c.517A>G (p.Ile173Val) rs1060502504
NM_152594.3(SPRED1):c.538G>T (p.Asp180Tyr) rs1375474473
NM_152594.3(SPRED1):c.587C>T (p.Thr196Ile) rs147474792
NM_152594.3(SPRED1):c.683G>A (p.Arg228Lys)
NM_152594.3(SPRED1):c.685G>T (p.Val229Phe) rs201837340
NM_152594.3(SPRED1):c.74A>G (p.Asp25Gly) rs1057524159
NM_152594.3(SPRED1):c.842A>G (p.Gln281Arg) rs1427402192
NM_152594.3(SPRED1):c.974G>A (p.Arg325Gln) rs1238094530
NM_152594.3(SPRED1):c.995G>A (p.Arg332His) rs779966392

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