NM_001042492.3(NF1):c.1247G>A (p.Arg416Gln)
|
rs1343309278
|
0.00002
|
NM_001042492.3(NF1):c.4657C>G (p.Pro1553Ala)
|
rs1033427343
|
0.00002
|
NM_005188.4(CBL):c.664A>C (p.Met222Leu)
|
rs773611782
|
0.00002
|
NM_001042492.3(NF1):c.1130T>C (p.Ile377Thr)
|
rs878853863
|
0.00001
|
NM_001042492.3(NF1):c.1219C>T (p.His407Tyr)
|
rs1156614886
|
0.00001
|
NM_001042492.3(NF1):c.1319G>A (p.Arg440Gln)
|
rs1466678870
|
0.00001
|
NM_001042492.3(NF1):c.1662G>T (p.Gln554His)
|
rs147594815
|
0.00001
|
NM_001042492.3(NF1):c.1907C>G (p.Ser636Cys)
|
rs780412565
|
0.00001
|
NM_001042492.3(NF1):c.200A>G (p.Asn67Ser)
|
rs375038808
|
0.00001
|
NM_001042492.3(NF1):c.2159G>A (p.Arg720Gln)
|
rs1350468182
|
0.00001
|
NM_001042492.3(NF1):c.2345C>G (p.Ala782Gly)
|
rs1203924788
|
0.00001
|
NM_001042492.3(NF1):c.2434A>C (p.Ile812Leu)
|
rs587781899
|
0.00001
|
NM_001042492.3(NF1):c.2476A>C (p.Ile826Leu)
|
rs767069721
|
0.00001
|
NM_001042492.3(NF1):c.2624G>T (p.Gly875Val)
|
rs1060500361
|
0.00001
|
NM_001042492.3(NF1):c.2643G>A (p.Met881Ile)
|
rs376666221
|
0.00001
|
NM_001042492.3(NF1):c.2659G>A (p.Ala887Thr)
|
rs1251621684
|
0.00001
|
NM_001042492.3(NF1):c.2794A>G (p.Met932Val)
|
rs886052800
|
0.00001
|
NM_001042492.3(NF1):c.2795T>C (p.Met932Thr)
|
rs876659779
|
0.00001
|
NM_001042492.3(NF1):c.2825G>A (p.Ser942Asn)
|
rs1555614350
|
0.00001
|
NM_001042492.3(NF1):c.3013A>G (p.Met1005Val)
|
rs1555614502
|
0.00001
|
NM_001042492.3(NF1):c.3352A>G (p.Ser1118Gly)
|
rs201645318
|
0.00001
|
NM_001042492.3(NF1):c.3490T>G (p.Ser1164Ala)
|
rs750303863
|
0.00001
|
NM_001042492.3(NF1):c.3527G>T (p.Arg1176Ile)
|
rs1227027709
|
0.00001
|
NM_001042492.3(NF1):c.3749G>A (p.Arg1250Gln)
|
rs199474765
|
0.00001
|
NM_001042492.3(NF1):c.374G>A (p.Arg125His)
|
rs149003051
|
0.00001
|
NM_001042492.3(NF1):c.4055G>C (p.Ser1352Thr)
|
rs876660908
|
0.00001
|
NM_001042492.3(NF1):c.4306G>A (p.Glu1436Lys)
|
rs876660428
|
0.00001
|
NM_001042492.3(NF1):c.451A>C (p.Asn151His)
|
rs769391944
|
0.00001
|
NM_001042492.3(NF1):c.4724+3A>G
|
rs781147524
|
0.00001
|
NM_001042492.3(NF1):c.4813A>G (p.Ile1605Val)
|
rs199474766
|
0.00001
|
NM_001042492.3(NF1):c.4859G>A (p.Gly1620Asp)
|
rs587782213
|
0.00001
|
NM_001042492.3(NF1):c.5578C>G (p.Leu1860Val)
|
rs746689492
|
0.00001
|
NM_001042492.3(NF1):c.5768C>T (p.Thr1923Met)
|
rs786203824
|
0.00001
|
NM_001042492.3(NF1):c.6322A>T (p.Thr2108Ser)
|
rs1024333224
|
0.00001
|
NM_001042492.3(NF1):c.6646T>A (p.Cys2216Ser)
|
rs757736155
|
0.00001
|
NM_001042492.3(NF1):c.6773G>A (p.Arg2258Gln)
|
rs786202030
|
0.00001
|
NM_001042492.3(NF1):c.7045C>T (p.Arg2349Cys)
|
rs56013763
|
0.00001
|
NM_001042492.3(NF1):c.7370A>G (p.His2457Arg)
|
rs863224664
|
0.00001
|
NM_001042492.3(NF1):c.7432A>G (p.Ile2478Val)
|
rs759307070
|
0.00001
|
NM_001042492.3(NF1):c.7496G>T (p.Gly2499Val)
|
rs375176282
|
0.00001
|
NM_001042492.3(NF1):c.7643T>G (p.Ile2548Arg)
|
rs864622266
|
0.00001
|
NM_001042492.3(NF1):c.7850C>T (p.Ala2617Val)
|
rs375990655
|
0.00001
|
NM_001042492.3(NF1):c.7876C>G (p.Leu2626Val)
|
rs1555536748
|
0.00001
|
NM_001042492.3(NF1):c.7891A>G (p.Thr2631Ala)
|
rs199474793
|
0.00001
|
NM_001042492.3(NF1):c.964A>G (p.Ile322Val)
|
rs755007999
|
0.00001
|
NM_001042492.3(NF1):c.1002C>G (p.Ile334Met)
|
rs2143873647
|
|
NM_001042492.3(NF1):c.1186A>C (p.Ile396Leu)
|
rs1413735911
|
|
NM_001042492.3(NF1):c.1264G>T (p.Ala422Ser)
|
rs786202145
|
|
NM_001042492.3(NF1):c.1322A>G (p.Asn441Ser)
|
rs370020114
|
|
NM_001042492.3(NF1):c.1355A>T (p.Gln452Leu)
|
rs2066621372
|
|
NM_001042492.3(NF1):c.1361G>A (p.Cys454Tyr)
|
rs983914251
|
|
NM_001042492.3(NF1):c.1370A>T (p.His457Leu)
|
rs786202763
|
|
NM_001042492.3(NF1):c.1392+5G>A
|
rs199999754
|
|
NM_001042492.3(NF1):c.1541A>G (p.Gln514Arg)
|
rs775369084
|
|
NM_001042492.3(NF1):c.1583G>A (p.Gly528Glu)
|
|
|
NM_001042492.3(NF1):c.1600C>T (p.Pro534Ser)
|
rs1555612858
|
|
NM_001042492.3(NF1):c.1621A>G (p.Ile541Val)
|
rs876660632
|
|
NM_001042492.3(NF1):c.1633G>T (p.Ala545Ser)
|
|
|
NM_001042492.3(NF1):c.1636A>G (p.Met546Val)
|
rs2066877456
|
|
NM_001042492.3(NF1):c.1661A>G (p.Gln554Arg)
|
rs863224656
|
|
NM_001042492.3(NF1):c.1675G>A (p.Asp559Asn)
|
rs2144004244
|
|
NM_001042492.3(NF1):c.1722-13T>G
|
|
|
NM_001042492.3(NF1):c.1771C>G (p.Leu591Val)
|
rs767247726
|
|
NM_001042492.3(NF1):c.1892G>A (p.Gly631Glu)
|
rs876660272
|
|
NM_001042492.3(NF1):c.1919C>T (p.Thr640Ile)
|
rs1555613573
|
|
NM_001042492.3(NF1):c.1940A>C (p.His647Pro)
|
rs1170252879
|
|
NM_001042492.3(NF1):c.1981G>A (p.Gly661Arg)
|
rs2066993430
|
|
NM_001042492.3(NF1):c.2001+5G>T
|
rs2144028091
|
|
NM_001042492.3(NF1):c.2012C>G (p.Ala671Gly)
|
rs760900648
|
|
NM_001042492.3(NF1):c.2015G>T (p.Gly672Val)
|
rs371817372
|
|
NM_001042492.3(NF1):c.2128_2142del (p.Phe710_Cys714del)
|
|
|
NM_001042492.3(NF1):c.2186A>C (p.His729Pro)
|
|
|
NM_001042492.3(NF1):c.2188A>C (p.Asn730His)
|
rs758893131
|
|
NM_001042492.3(NF1):c.2204A>C (p.Tyr735Ser)
|
|
|
NM_001042492.3(NF1):c.2204A>G (p.Tyr735Cys)
|
|
|
NM_001042492.3(NF1):c.2233A>G (p.Ser745Gly)
|
rs786201865
|
|
NM_001042492.3(NF1):c.2236A>G (p.Asn746Asp)
|
rs2151426135
|
|
NM_001042492.3(NF1):c.2244G>A (p.Met748Ile)
|
rs786202478
|
|
NM_001042492.3(NF1):c.2326-5T>G
|
|
|
NM_001042492.3(NF1):c.2360CAA[1] (p.Thr788del)
|
|
|
NM_001042492.3(NF1):c.2371A>C (p.Ile791Leu)
|
|
|
NM_001042492.3(NF1):c.2410-5T>A
|
rs2151428754
|
|
NM_001042492.3(NF1):c.2431A>G (p.Thr811Ala)
|
|
|
NM_001042492.3(NF1):c.2495A>G (p.Asp832Gly)
|
rs1060500283
|
|
NM_001042492.3(NF1):c.2497T>C (p.Ser833Pro)
|
|
|
NM_001042492.3(NF1):c.2518A>G (p.Met840Val)
|
rs779931789
|
|
NM_001042492.3(NF1):c.2569A>G (p.Asn857Asp)
|
|
|
NM_001042492.3(NF1):c.2582C>A (p.Ala861Glu)
|
rs1555614266
|
|
NM_001042492.3(NF1):c.2641A>G (p.Met881Val)
|
rs1060500263
|
|
NM_001042492.3(NF1):c.2663A>G (p.Asp888Gly)
|
|
|
NM_001042492.3(NF1):c.2666C>T (p.Thr889Ile)
|
|
|
NM_001042492.3(NF1):c.2668C>A (p.Pro890Thr)
|
rs771012891
|
|
NM_001042492.3(NF1):c.2671G>C (p.Val891Leu)
|
rs1060500256
|
|
NM_001042492.3(NF1):c.2674A>T (p.Ser892Cys)
|
rs746324091
|
|
NM_001042492.3(NF1):c.2783C>T (p.Ala928Val)
|
rs2067073386
|
|
NM_001042492.3(NF1):c.2825G>C (p.Ser942Thr)
|
rs1555614350
|
|
NM_001042492.3(NF1):c.2848C>G (p.Gln950Glu)
|
|
|
NM_001042492.3(NF1):c.2851-3del
|
rs876660379
|
|
NM_001042492.3(NF1):c.2867C>G (p.Thr956Ser)
|
rs1323973848
|
|
NM_001042492.3(NF1):c.288+6T>A
|
|
|
NM_001042492.3(NF1):c.2896G>C (p.Ala966Pro)
|
|
|
NM_001042492.3(NF1):c.2993A>G (p.Tyr998Cys)
|
rs1555614496
|
|
NM_001042492.3(NF1):c.3069G>A (p.Met1023Ile)
|
rs2151431668
|
|
NM_001042492.3(NF1):c.3140A>G (p.Asp1047Gly)
|
rs1555614631
|
|
NM_001042492.3(NF1):c.3157T>C (p.Ser1053Pro)
|
|
|
NM_001042492.3(NF1):c.3169G>A (p.Ala1057Thr)
|
rs1367746167
|
|
NM_001042492.3(NF1):c.3223_3225delinsAGG (p.Ala1075Arg)
|
|
|
NM_001042492.3(NF1):c.3251C>T (p.Pro1084Leu)
|
rs1164081667
|
|
NM_001042492.3(NF1):c.3302A>G (p.Gln1101Arg)
|
|
|
NM_001042492.3(NF1):c.3406C>T (p.Arg1136Trp)
|
rs1341314304
|
|
NM_001042492.3(NF1):c.3467A>G (p.Asn1156Ser)
|
rs199474764
|
|
NM_001042492.3(NF1):c.3524C>T (p.Thr1175Ile)
|
rs1555615024
|
|
NM_001042492.3(NF1):c.3646G>T (p.Gly1216Cys)
|
rs1567851424
|
|
NM_001042492.3(NF1):c.3671C>T (p.Ala1224Val)
|
rs1060500340
|
|
NM_001042492.3(NF1):c.3674T>C (p.Met1225Thr)
|
|
|
NM_001042492.3(NF1):c.3691G>A (p.Val1231Ile)
|
|
|
NM_001042492.3(NF1):c.3721C>G (p.Arg1241Gly)
|
rs137854562
|
|
NM_001042492.3(NF1):c.373C>T (p.Arg125Cys)
|
rs876659418
|
|
NM_001042492.3(NF1):c.3779T>C (p.Met1260Thr)
|
rs1555615463
|
|
NM_001042492.3(NF1):c.378A>C (p.Glu126Asp)
|
rs786201914
|
|
NM_001042492.3(NF1):c.3797A>G (p.Glu1266Gly)
|
|
|
NM_001042492.3(NF1):c.3811A>C (p.Met1271Leu)
|
rs746583007
|
|
NM_001042492.3(NF1):c.3821T>C (p.Leu1274Pro)
|
|
|
NM_001042492.3(NF1):c.3835A>T (p.Ser1279Cys)
|
|
|
NM_001042492.3(NF1):c.3921T>G (p.Ile1307Met)
|
rs876660805
|
|
NM_001042492.3(NF1):c.394G>A (p.Ala132Thr)
|
|
|
NM_001042492.3(NF1):c.3959A>C (p.Glu1320Ala)
|
rs1555615562
|
|
NM_001042492.3(NF1):c.4018C>G (p.Leu1340Val)
|
|
|
NM_001042492.3(NF1):c.4034A>G (p.Lys1345Arg)
|
|
|
NM_001042492.3(NF1):c.4075C>A (p.Pro1359Thr)
|
rs745931495
|
|
NM_001042492.3(NF1):c.4169A>G (p.Lys1390Arg)
|
|
|
NM_001042492.3(NF1):c.4197G>T (p.Gln1399His)
|
rs1355988609
|
|
NM_001042492.3(NF1):c.4201A>G (p.Ser1401Gly)
|
rs1060500310
|
|
NM_001042492.3(NF1):c.4219A>G (p.Ser1407Gly)
|
rs587781755
|
|
NM_001042492.3(NF1):c.4316T>G (p.Leu1439Trp)
|
rs1567862071
|
|
NM_001042492.3(NF1):c.4405A>G (p.Lys1469Glu)
|
|
|
NM_001042492.3(NF1):c.4412A>G (p.Asn1471Ser)
|
rs876658250
|
|
NM_001042492.3(NF1):c.4501G>T (p.Asp1501Tyr)
|
|
|
NM_001042492.3(NF1):c.4505G>A (p.Gly1502Asp)
|
|
|
NM_001042492.3(NF1):c.4507A>C (p.Asn1503His)
|
rs1555618837
|
|
NM_001042492.3(NF1):c.452A>T (p.Asn151Ile)
|
|
|
NM_001042492.3(NF1):c.4536G>C (p.Trp1512Cys)
|
rs878853897
|
|
NM_001042492.3(NF1):c.4572C>A (p.Ser1524Arg)
|
rs1597747170
|
|
NM_001042492.3(NF1):c.4573A>G (p.Asn1525Asp)
|
rs1555618861
|
|
NM_001042492.3(NF1):c.4681A>G (p.Ser1561Gly)
|
|
|
NM_001042492.3(NF1):c.469A>G (p.Ile157Val)
|
rs1555606118
|
|
NM_001042492.3(NF1):c.46C>G (p.Arg16Gly)
|
|
|
NM_001042492.3(NF1):c.4796C>T (p.Ser1599Phe)
|
rs1555619407
|
|
NM_001042492.3(NF1):c.480-2746A>G
|
|
|
NM_001042492.3(NF1):c.4804G>A (p.Gly1602Arg)
|
rs878853898
|
|
NM_001042492.3(NF1):c.4831C>T (p.Arg1611Trp)
|
rs1060500316
|
|
NM_001042492.3(NF1):c.4832G>A (p.Arg1611Gln)
|
rs876659197
|
|
NM_001042492.3(NF1):c.4841A>G (p.Lys1614Arg)
|
|
|
NM_001042492.3(NF1):c.4856A>G (p.Asn1619Ser)
|
rs1466167635
|
|
NM_001042492.3(NF1):c.5084G>A (p.Arg1695Gln)
|
rs1555533367
|
|
NM_001042492.3(NF1):c.5146G>A (p.Ala1716Thr)
|
rs767469374
|
|
NM_001042492.3(NF1):c.5164G>A (p.Glu1722Lys)
|
|
|
NM_001042492.3(NF1):c.5191T>G (p.Leu1731Val)
|
rs876658602
|
|
NM_001042492.3(NF1):c.520G>A (p.Val174Ile)
|
rs1555607084
|
|
NM_001042492.3(NF1):c.520G>T (p.Val174Phe)
|
rs1555607084
|
|
NM_001042492.3(NF1):c.5385T>A (p.Asp1795Glu)
|
rs1135402870
|
|
NM_001042492.3(NF1):c.5450G>A (p.Cys1817Tyr)
|
rs1555533589
|
|
NM_001042492.3(NF1):c.5483G>A (p.Arg1828Gln)
|
rs876660298
|
|
NM_001042492.3(NF1):c.5489G>A (p.Arg1830His)
|
rs771529172
|
|
NM_001042492.3(NF1):c.5533A>T (p.Ile1845Phe)
|
rs1567612641
|
|
NM_001042492.3(NF1):c.5729C>G (p.Ser1910Cys)
|
rs751904277
|
|
NM_001042492.3(NF1):c.5756A>T (p.Glu1919Val)
|
|
|
NM_001042492.3(NF1):c.5812+489C>G
|
|
|
NM_001042492.3(NF1):c.5813-1042A>G
|
|
|
NM_001042492.3(NF1):c.5926G>C (p.Asp1976His)
|
|
|
NM_001042492.3(NF1):c.5935A>G (p.Ile1979Val)
|
rs775480099
|
|
NM_001042492.3(NF1):c.6148-16T>G
|
rs769223408
|
|
NM_001042492.3(NF1):c.614A>G (p.Lys205Arg)
|
rs1555608659
|
|
NM_001042492.3(NF1):c.619G>T (p.Val207Phe)
|
|
|
NM_001042492.3(NF1):c.6310T>C (p.Phe2104Leu)
|
rs876660000
|
|
NM_001042492.3(NF1):c.6398T>C (p.Leu2133Pro)
|
rs2069690617
|
|
NM_001042492.3(NF1):c.6550G>A (p.Asp2184Asn)
|
rs1597843887
|
|
NM_001042492.3(NF1):c.6647G>T (p.Cys2216Phe)
|
rs1567617669
|
|
NM_001042492.3(NF1):c.6683A>G (p.Gln2228Arg)
|
|
|
NM_001042492.3(NF1):c.6687G>C (p.Trp2229Cys)
|
|
|
NM_001042492.3(NF1):c.6920A>G (p.Lys2307Arg)
|
rs765418194
|
|
NM_001042492.3(NF1):c.6931C>G (p.Leu2311Val)
|
rs1044698498
|
|
NM_001042492.3(NF1):c.6948T>G (p.Phe2316Leu)
|
rs1597847958
|
|
NM_001042492.3(NF1):c.7027C>T (p.His2343Tyr)
|
rs781578248
|
|
NM_001042492.3(NF1):c.7049T>A (p.Ile2350Lys)
|
rs2069794814
|
|
NM_001042492.3(NF1):c.7063A>C (p.Ser2355Arg)
|
|
|
NM_001042492.3(NF1):c.7081A>G (p.Met2361Val)
|
rs1022562410
|
|
NM_001042492.3(NF1):c.7162T>G (p.Phe2388Val)
|
|
|
NM_001042492.3(NF1):c.7391C>A (p.Thr2464Asn)
|
|
|
NM_001042492.3(NF1):c.7411G>A (p.Val2471Ile)
|
rs876660126
|
|
NM_001042492.3(NF1):c.7429C>T (p.Pro2477Ser)
|
rs876658722
|
|
NM_001042492.3(NF1):c.7447C>T (p.Pro2483Ser)
|
rs1291550449
|
|
NM_001042492.3(NF1):c.7477C>T (p.Pro2493Ser)
|
rs2070167112
|
|
NM_001042492.3(NF1):c.7490C>T (p.Pro2497Leu)
|
rs1555536347
|
|
NM_001042492.3(NF1):c.7496G>A (p.Gly2499Asp)
|
rs375176282
|
|
NM_001042492.3(NF1):c.7513G>C (p.Ala2505Pro)
|
rs786202955
|
|
NM_001042492.3(NF1):c.757G>C (p.Val253Leu)
|
rs786203607
|
|
NM_001042492.3(NF1):c.7767G>C (p.Gln2589His)
|
rs587782168
|
|
NM_001042492.3(NF1):c.7781G>T (p.Arg2594Leu)
|
rs774781617
|
|
NM_001042492.3(NF1):c.7805A>G (p.Asn2602Ser)
|
rs2151582358
|
|
NM_001042492.3(NF1):c.7838C>A (p.Pro2613Gln)
|
rs750972729
|
|
NM_001042492.3(NF1):c.7846C>G (p.Gln2616Glu)
|
rs1555536713
|
|
NM_001042492.3(NF1):c.7963C>A (p.Pro2655Thr)
|
rs587781791
|
|
NM_001042492.3(NF1):c.8011T>A (p.Leu2671Met)
|
rs2070326229
|
|
NM_001042492.3(NF1):c.8084C>T (p.Pro2695Leu)
|
rs2070328290
|
|
NM_001042492.3(NF1):c.8183C>T (p.Ala2728Val)
|
rs760973918
|
|
NM_001042492.3(NF1):c.8222C>T (p.Thr2741Met)
|
rs144178015
|
|
NM_001042492.3(NF1):c.8244A>T (p.Glu2748Asp)
|
rs878853919
|
|
NM_001042492.3(NF1):c.8362T>G (p.Ser2788Ala)
|
rs374004608
|
|
NM_001042492.3(NF1):c.8363C>T (p.Ser2788Phe)
|
rs1567628713
|
|
NM_001042492.3(NF1):c.8407C>G (p.Pro2803Ala)
|
rs779180729
|
|
NM_001042492.3(NF1):c.8421C>A (p.His2807Gln)
|
rs1326795798
|
|
NM_001042492.3(NF1):c.8421C>G (p.His2807Gln)
|
|
|
NM_001042492.3(NF1):c.8422T>C (p.Cys2808Arg)
|
rs1597883056
|
|
NM_001042492.3(NF1):c.8438C>T (p.Thr2813Ile)
|
|
|
NM_001042492.3(NF1):c.8475A>C (p.Arg2825Ser)
|
|
|
NM_001042492.3(NF1):c.8497A>C (p.Asn2833His)
|
rs786202863
|
|
NM_001042492.3(NF1):c.888+652G>A
|
|
|
NM_001042492.3(NF1):c.889-21C>A
|
rs753797445
|
|
NM_001042492.3(NF1):c.889A>C (p.Lys297Gln)
|
rs786202384
|
|
NM_001042492.3(NF1):c.901G>A (p.Asp301Asn)
|
rs2066505718
|
|
NM_001042492.3(NF1):c.923C>G (p.Ala308Gly)
|
rs876660836
|
|
NM_001042492.3(NF1):c.965T>C (p.Ile322Thr)
|
rs1417994243
|
|
NM_001042492.3(NF1):c.98A>G (p.Lys33Arg)
|
rs1555604887
|
|
NM_005188.4(CBL):c.1202G>T (p.Cys401Phe)
|
rs1357686410
|
|
NM_005188.4(CBL):c.1253T>C (p.Phe418Ser)
|
rs772156285
|
|
NM_005188.4(CBL):c.2654T>C (p.Ile885Thr)
|
|
|
NM_005188.4(CBL):c.434C>G (p.Ser145Cys)
|
|
|