NM_005188.4(CBL):c.*615C>T
|
rs769151797
|
0.00047
|
NM_005188.3(CBL):c.-122C>T
|
rs886047765
|
0.00029
|
NM_005188.4(CBL):c.2513G>T (p.Gly838Val)
|
rs144191570
|
0.00014
|
NM_001042492.3(NF1):c.7354C>T (p.Arg2452Cys)
|
rs377662483
|
0.00011
|
NM_001042492.3(NF1):c.5513C>G (p.Ser1838Cys)
|
rs368654378
|
0.00009
|
NM_001042492.3(NF1):c.8105A>T (p.Tyr2702Phe)
|
rs201824349
|
0.00008
|
NM_002834.5(PTPN11):c.1678C>T (p.Leu560Phe)
|
rs397516797
|
0.00007
|
NM_001042492.3(NF1):c.7520C>T (p.Thr2507Ile)
|
rs149055633
|
0.00006
|
NM_002834.5(PTPN11):c.1682C>T (p.Pro561Leu)
|
rs141140214
|
0.00006
|
NM_005188.4(CBL):c.1423G>A (p.Gly475Ser)
|
rs764599897
|
0.00006
|
NM_001042492.3(NF1):c.1166A>G (p.His389Arg)
|
rs149739570
|
0.00005
|
NM_001042492.3(NF1):c.1894T>A (p.Cys632Ser)
|
rs370789267
|
0.00005
|
NM_001042492.3(NF1):c.4207G>A (p.Gly1403Ser)
|
rs138227618
|
0.00005
|
NM_005188.4(CBL):c.2520T>G (p.Cys840Trp)
|
rs112330156
|
0.00005
|
NM_001042492.3(NF1):c.231A>T (p.Lys77Asn)
|
rs373563053
|
0.00004
|
NM_001042492.3(NF1):c.3371G>A (p.Ser1124Asn)
|
rs374472758
|
0.00004
|
NM_001042492.3(NF1):c.3883A>G (p.Thr1295Ala)
|
rs143836226
|
0.00004
|
NM_001042492.3(NF1):c.3947A>G (p.His1316Arg)
|
rs751023085
|
0.00004
|
NM_001042492.3(NF1):c.4111-4G>A
|
rs764877783
|
0.00004
|
NM_002834.5(PTPN11):c.893A>G (p.Asn298Ser)
|
rs572274623
|
0.00004
|
NM_005188.4(CBL):c.1511C>T (p.Pro504Leu)
|
rs533554769
|
0.00004
|
NM_005188.4(CBL):c.2083G>A (p.Glu695Lys)
|
rs143975631
|
0.00004
|
NM_001042492.3(NF1):c.100G>A (p.Val34Ile)
|
rs772995929
|
0.00003
|
NM_001042492.3(NF1):c.169G>A (p.Gly57Ser)
|
rs779727341
|
0.00003
|
NM_001042492.3(NF1):c.2570A>G (p.Asn857Ser)
|
rs1060500299
|
0.00003
|
NM_001042492.3(NF1):c.2585C>G (p.Thr862Ser)
|
rs200302954
|
0.00003
|
NM_001042492.3(NF1):c.3604G>T (p.Ala1202Ser)
|
rs146641724
|
0.00003
|
NM_001042492.3(NF1):c.7003A>G (p.Thr2335Ala)
|
rs370209920
|
0.00003
|
NM_002834.5(PTPN11):c.1327C>T (p.His443Tyr)
|
rs779236638
|
0.00003
|
NM_005188.4(CBL):c.1484C>T (p.Pro495Leu)
|
rs373989524
|
0.00003
|
NM_001042492.3(NF1):c.212T>C (p.Phe71Ser)
|
rs752396270
|
0.00002
|
NM_001042492.3(NF1):c.2458G>A (p.Val820Met)
|
rs761408020
|
0.00002
|
NM_001042492.3(NF1):c.3374C>T (p.Ala1125Val)
|
rs902739109
|
0.00002
|
NM_001042492.3(NF1):c.4426C>T (p.Arg1476Cys)
|
rs771420960
|
0.00002
|
NM_001042492.3(NF1):c.5225A>G (p.Asn1742Ser)
|
rs745407845
|
0.00002
|
NM_001042492.3(NF1):c.5289A>G (p.Gln1763=)
|
rs199703296
|
0.00002
|
NM_001042492.3(NF1):c.5381T>C (p.Val1794Ala)
|
rs142867979
|
0.00002
|
NM_001042492.3(NF1):c.7055A>G (p.Asn2352Ser)
|
rs763082717
|
0.00002
|
NM_001042492.3(NF1):c.7484C>T (p.Ser2495Phe)
|
rs757245615
|
0.00002
|
NM_001042492.3(NF1):c.7523A>G (p.Tyr2508Cys)
|
rs762169098
|
0.00002
|
NM_001042492.3(NF1):c.8456G>A (p.Ser2819Asn)
|
rs934837854
|
0.00002
|
NM_001042492.3(NF1):c.847G>T (p.Asp283Tyr)
|
rs200572531
|
0.00002
|
NM_002834.5(PTPN11):c.1041A>G (p.Gln347=)
|
rs766297596
|
0.00002
|
NM_002834.5(PTPN11):c.1226G>C (p.Gly409Ala)
|
rs201247699
|
0.00002
|
NM_002834.5(PTPN11):c.1594G>A (p.Glu532Lys)
|
rs587778634
|
0.00002
|
NM_002834.5(PTPN11):c.455G>A (p.Arg152His)
|
rs397507521
|
0.00002
|
NM_005188.4(CBL):c.1463C>T (p.Ala488Val)
|
rs377502790
|
0.00002
|
NM_005188.4(CBL):c.1783A>G (p.Ile595Val)
|
rs775675805
|
0.00002
|
NM_005188.4(CBL):c.2153G>A (p.Arg718Gln)
|
rs144894769
|
0.00002
|
NM_005188.4(CBL):c.2350G>A (p.Val784Met)
|
rs140725852
|
0.00002
|
NM_005188.4(CBL):c.286C>T (p.Arg96Cys)
|
rs147438359
|
0.00002
|
NM_005188.4(CBL):c.838C>T (p.Arg280Trp)
|
rs730880432
|
0.00002
|
NM_001042492.3(NF1):c.-148C>A
|
rs886052792
|
0.00001
|
NM_001042492.3(NF1):c.1264G>A (p.Ala422Thr)
|
rs786202145
|
0.00001
|
NM_001042492.3(NF1):c.1801C>T (p.Arg601Trp)
|
rs587782592
|
0.00001
|
NM_001042492.3(NF1):c.1849G>A (p.Ala617Thr)
|
rs1131691135
|
0.00001
|
NM_001042492.3(NF1):c.2054C>G (p.Thr685Ser)
|
rs876658190
|
0.00001
|
NM_001042492.3(NF1):c.2251+5A>G
|
rs786201934
|
0.00001
|
NM_001042492.3(NF1):c.2293C>T (p.Arg765Cys)
|
rs1383770460
|
0.00001
|
NM_001042492.3(NF1):c.2326-9T>A
|
rs181838967
|
0.00001
|
NM_001042492.3(NF1):c.2740C>T (p.Arg914Trp)
|
rs765848298
|
0.00001
|
NM_001042492.3(NF1):c.2803A>C (p.Asn935His)
|
rs786201823
|
0.00001
|
NM_001042492.3(NF1):c.3197+3A>G
|
rs1359512152
|
0.00001
|
NM_001042492.3(NF1):c.3359T>C (p.Val1120Ala)
|
rs751571517
|
0.00001
|
NM_001042492.3(NF1):c.348A>T (p.Glu116Asp)
|
rs1231174547
|
0.00001
|
NM_001042492.3(NF1):c.3490T>G (p.Ser1164Ala)
|
rs750303863
|
0.00001
|
NM_001042492.3(NF1):c.3694C>T (p.Pro1232Ser)
|
rs1482085668
|
0.00001
|
NM_001042492.3(NF1):c.3778A>G (p.Met1260Val)
|
rs1264981144
|
0.00001
|
NM_001042492.3(NF1):c.3811A>G (p.Met1271Val)
|
rs746583007
|
0.00001
|
NM_001042492.3(NF1):c.3976T>A (p.Leu1326Ile)
|
rs765957571
|
0.00001
|
NM_001042492.3(NF1):c.4055G>C (p.Ser1352Thr)
|
rs876660908
|
0.00001
|
NM_001042492.3(NF1):c.4187G>A (p.Arg1396His)
|
rs368685980
|
0.00001
|
NM_001042492.3(NF1):c.4201A>T (p.Ser1401Cys)
|
rs1060500310
|
0.00001
|
NM_001042492.3(NF1):c.4385G>A (p.Arg1462Gln)
|
rs370852681
|
0.00001
|
NM_001042492.3(NF1):c.4409G>A (p.Ser1470Asn)
|
rs876660093
|
0.00001
|
NM_001042492.3(NF1):c.4504G>A (p.Gly1502Ser)
|
rs876659607
|
0.00001
|
NM_001042492.3(NF1):c.452A>G (p.Asn151Ser)
|
rs1567817981
|
0.00001
|
NM_001042492.3(NF1):c.4766C>T (p.Thr1589Met)
|
rs185660700
|
0.00001
|
NM_001042492.3(NF1):c.5098C>T (p.Leu1700Phe)
|
rs775786295
|
0.00001
|
NM_001042492.3(NF1):c.5344A>G (p.Ile1782Val)
|
rs1160436761
|
0.00001
|
NM_001042492.3(NF1):c.5351A>T (p.Tyr1784Phe)
|
rs1060500280
|
0.00001
|
NM_001042492.3(NF1):c.575G>A (p.Arg192Gln)
|
rs587781670
|
0.00001
|
NM_001042492.3(NF1):c.6665C>T (p.Thr2222Met)
|
rs369803831
|
0.00001
|
NM_001042492.3(NF1):c.6773G>A (p.Arg2258Gln)
|
rs786202030
|
0.00001
|
NM_001042492.3(NF1):c.6936C>G (p.His2312Gln)
|
rs1567618937
|
0.00001
|
NM_001042492.3(NF1):c.7009C>T (p.Leu2337Phe)
|
rs367734104
|
0.00001
|
NM_001042492.3(NF1):c.7039A>G (p.Ser2347Gly)
|
rs1060500318
|
0.00001
|
NM_001042492.3(NF1):c.703T>C (p.Tyr235His)
|
rs864622465
|
0.00001
|
NM_001042492.3(NF1):c.7213A>G (p.Ile2405Val)
|
rs565708398
|
0.00001
|
NM_001042492.3(NF1):c.7396A>G (p.Ile2466Val)
|
rs748027595
|
0.00001
|
NM_001042492.3(NF1):c.7439A>G (p.His2480Arg)
|
rs371151718
|
0.00001
|
NM_001042492.3(NF1):c.7456A>G (p.Arg2486Gly)
|
rs752162999
|
0.00001
|
NM_001042492.3(NF1):c.7487C>G (p.Ser2496Cys)
|
rs371773406
|
0.00001
|
NM_001042492.3(NF1):c.7534G>A (p.Gly2512Ser)
|
rs766496842
|
0.00001
|
NM_001042492.3(NF1):c.7585C>T (p.Pro2529Ser)
|
rs1555536370
|
0.00001
|
NM_001042492.3(NF1):c.7729T>C (p.Tyr2577His)
|
rs778143477
|
0.00001
|
NM_001042492.3(NF1):c.7780C>T (p.Arg2594Cys)
|
rs372787215
|
0.00001
|
NM_001042492.3(NF1):c.7889C>G (p.Thr2630Ser)
|
rs1283946778
|
0.00001
|
NM_001042492.3(NF1):c.7891A>G (p.Thr2631Ala)
|
rs199474793
|
0.00001
|
NM_001042492.3(NF1):c.8150C>T (p.Pro2717Leu)
|
rs778799019
|
0.00001
|
NM_001042492.3(NF1):c.8238T>G (p.Ile2746Met)
|
rs779789452
|
0.00001
|
NM_001042492.3(NF1):c.8446G>A (p.Gly2816Arg)
|
rs778233452
|
0.00001
|
NM_001042492.3(NF1):c.845A>G (p.Gln282Arg)
|
rs779034900
|
0.00001
|
NM_001042492.3(NF1):c.890A>G (p.Lys297Arg)
|
rs1219929525
|
0.00001
|
NM_002834.5(PTPN11):c.1048T>G (p.Ser350Ala)
|
rs146571700
|
0.00001
|
NM_002834.5(PTPN11):c.1124A>G (p.Tyr375Cys)
|
rs41299183
|
0.00001
|
NM_002834.5(PTPN11):c.244A>G (p.Met82Val)
|
rs397507515
|
0.00001
|
NM_002834.5(PTPN11):c.289G>C (p.Glu97Gln)
|
rs397507516
|
0.00001
|
NM_002834.5(PTPN11):c.563A>G (p.Asp188Gly)
|
rs1436513335
|
0.00001
|
NM_002834.5(PTPN11):c.642G>A (p.Gln214=)
|
rs876661383
|
0.00001
|
NM_002834.5(PTPN11):c.931A>G (p.Met311Val)
|
rs774939392
|
0.00001
|
NM_002834.5(PTPN11):c.957C>T (p.Asn319=)
|
rs771407775
|
0.00001
|
NM_005188.4(CBL):c.1028G>A (p.Arg343Gln)
|
rs759585425
|
0.00001
|
NM_005188.4(CBL):c.1227+5G>A
|
rs756550704
|
0.00001
|
NM_005188.4(CBL):c.1282C>T (p.Pro428Ser)
|
rs762677807
|
0.00001
|
NM_005188.4(CBL):c.1324C>A (p.Leu442Met)
|
rs200508558
|
0.00001
|
NM_005188.4(CBL):c.1455C>G (p.Phe485Leu)
|
rs369547447
|
0.00001
|
NM_005188.4(CBL):c.202C>T (p.Arg68Trp)
|
rs730880429
|
0.00001
|
NM_005188.4(CBL):c.2055A>G (p.Lys685=)
|
rs1454595224
|
0.00001
|
NM_005188.4(CBL):c.2086G>A (p.Glu696Lys)
|
rs539217274
|
0.00001
|
NM_005188.4(CBL):c.2401G>T (p.Gly801Cys)
|
rs1465141746
|
0.00001
|
NM_005188.4(CBL):c.2530A>C (p.Ser844Arg)
|
rs587778159
|
0.00001
|
NM_005188.4(CBL):c.2584G>A (p.Glu862Lys)
|
rs397507498
|
0.00001
|
NM_005188.4(CBL):c.572G>C (p.Arg191Thr)
|
rs756736832
|
0.00001
|
NM_005188.4(CBL):c.93C>A (p.Asp31Glu)
|
rs376679438
|
0.00001
|
NM_001042492.3(NF1):c.1185+20T>G
|
rs2066522265
|
|
NM_001042492.3(NF1):c.15G>T (p.Arg5Ser)
|
rs1567786804
|
|
NM_001042492.3(NF1):c.1721+6T>C
|
rs2144005065
|
|
NM_001042492.3(NF1):c.17C>T (p.Pro6Leu)
|
rs864622210
|
|
NM_001042492.3(NF1):c.1802G>A (p.Arg601Gln)
|
rs1060500288
|
|
NM_001042492.3(NF1):c.2158C>T (p.Arg720Trp)
|
rs759679443
|
|
NM_001042492.3(NF1):c.2281G>A (p.Ala761Thr)
|
rs786202504
|
|
NM_001042492.3(NF1):c.2325+4T>C
|
rs1555613934
|
|
NM_001042492.3(NF1):c.234T>A (p.Asn78Lys)
|
rs876658354
|
|
NM_001042492.3(NF1):c.2440A>G (p.Lys814Glu)
|
rs1555614184
|
|
NM_001042492.3(NF1):c.2641A>G (p.Met881Val)
|
rs1060500263
|
|
NM_001042492.3(NF1):c.289-6T>C
|
rs757074803
|
|
NM_001042492.3(NF1):c.2899A>G (p.Ile967Val)
|
rs876660279
|
|
NM_001042492.3(NF1):c.2999G>T (p.Arg1000Leu)
|
rs753082620
|
|
NM_001042492.3(NF1):c.3055G>A (p.Val1019Ile)
|
rs1567849826
|
|
NM_001042492.3(NF1):c.3779T>C (p.Met1260Thr)
|
rs1555615463
|
|
NM_001042492.3(NF1):c.3863G>A (p.Cys1288Tyr)
|
rs1597722661
|
|
NM_001042492.3(NF1):c.389A>T (p.His130Leu)
|
rs876660277
|
|
NM_001042492.3(NF1):c.4010G>A (p.Arg1337Gln)
|
rs1060500379
|
|
NM_001042492.3(NF1):c.4075C>A (p.Pro1359Thr)
|
rs745931495
|
|
NM_001042492.3(NF1):c.4186C>T (p.Arg1396Cys)
|
rs1555618495
|
|
NM_001042492.3(NF1):c.4219A>G (p.Ser1407Gly)
|
rs587781755
|
|
NM_001042492.3(NF1):c.4239T>G (p.Phe1413Leu)
|
rs1597744644
|
|
NM_001042492.3(NF1):c.4315T>A (p.Leu1439Met)
|
rs1555618562
|
|
NM_001042492.3(NF1):c.4394A>G (p.Asn1465Ser)
|
rs786202492
|
|
NM_001042492.3(NF1):c.4412A>G (p.Asn1471Ser)
|
rs876658250
|
|
NM_001042492.3(NF1):c.4437C>A (p.Phe1479Leu)
|
rs757953485
|
|
NM_001042492.3(NF1):c.4453G>T (p.Asp1485Tyr)
|
rs2067662991
|
|
NM_001042492.3(NF1):c.4462A>C (p.Thr1488Pro)
|
rs876660162
|
|
NM_001042492.3(NF1):c.4462A>G (p.Thr1488Ala)
|
rs876660162
|
|
NM_001042492.3(NF1):c.4640G>A (p.Gly1547Asp)
|
rs2151466343
|
|
NM_001042492.3(NF1):c.5078A>G (p.His1693Arg)
|
rs2151538392
|
|
NM_001042492.3(NF1):c.520G>T (p.Val174Phe)
|
rs1555607084
|
|
NM_001042492.3(NF1):c.556G>T (p.Asp186Tyr)
|
rs1567820765
|
|
NM_001042492.3(NF1):c.5572G>A (p.Ala1858Thr)
|
rs786203416
|
|
NM_001042492.3(NF1):c.5590A>T (p.Ser1864Cys)
|
rs2151541898
|
|
NM_001042492.3(NF1):c.5729C>G (p.Ser1910Cys)
|
rs751904277
|
|
NM_001042492.3(NF1):c.5741C>A (p.Thr1914Lys)
|
rs1555533873
|
|
NM_001042492.3(NF1):c.6031C>G (p.Leu2011Val)
|
rs1567616649
|
|
NM_001042492.3(NF1):c.6175G>A (p.Asp2059Asn)
|
rs761029453
|
|
NM_001042492.3(NF1):c.6630G>C (p.Leu2210Phe)
|
rs886052801
|
|
NM_001042492.3(NF1):c.6637A>G (p.Met2213Val)
|
rs864622330
|
|
NM_001042492.3(NF1):c.6887T>C (p.Ile2296Thr)
|
rs1212022548
|
|
NM_001042492.3(NF1):c.6920A>G (p.Lys2307Arg)
|
rs765418194
|
|
NM_001042492.3(NF1):c.7078T>C (p.Phe2360Leu)
|
rs2069866148
|
|
NM_001042492.3(NF1):c.7090C>T (p.Arg2364Trp)
|
rs1567620403
|
|
NM_001042492.3(NF1):c.7113C>T (p.Cys2371=)
|
rs2069867490
|
|
NM_001042492.3(NF1):c.7162T>A (p.Phe2388Ile)
|
rs1425642121
|
|
NM_001042492.3(NF1):c.7368A>C (p.Lys2456Asn)
|
rs201287021
|
|
NM_001042492.3(NF1):c.7385T>C (p.Leu2462Pro)
|
rs1060500302
|
|
NM_001042492.3(NF1):c.7446C>A (p.Asp2482Glu)
|
rs876660614
|
|
NM_001042492.3(NF1):c.7693A>G (p.Thr2565Ala)
|
rs786202548
|
|
NM_001042492.3(NF1):c.7768C>T (p.His2590Tyr)
|
rs1555536690
|
|
NM_001042492.3(NF1):c.7770C>A (p.His2590Gln)
|
rs1060503906
|
|
NM_001042492.3(NF1):c.7781G>T (p.Arg2594Leu)
|
rs774781617
|
|
NM_001042492.3(NF1):c.7915C>G (p.Leu2639Val)
|
rs1057518362
|
|
NM_001042492.3(NF1):c.8357C>T (p.Ala2786Val)
|
rs2070377037
|
|
NM_001042492.3(NF1):c.8503A>G (p.Ile2835Val)
|
rs2151601629
|
|
NM_001042492.3(NF1):c.885T>A (p.Asn295Lys)
|
rs864622300
|
|
NM_001042492.3(NF1):c.889-11_889-6delinsAAATT
|
rs2143871690
|
|
NM_002834.5(PTPN11):c.1144G>A (p.Val382Ile)
|
rs1214510641
|
|
NM_002834.5(PTPN11):c.1261C>T (p.Arg421Trp)
|
rs1355732645
|
|
NM_002834.5(PTPN11):c.127C>G (p.Leu43Val)
|
rs1566164987
|
|
NM_002834.5(PTPN11):c.127C>T (p.Leu43Phe)
|
rs1566164987
|
|
NM_002834.5(PTPN11):c.1498C>G (p.Gln500Glu)
|
rs2038714548
|
|
NM_002834.5(PTPN11):c.1685C>T (p.Pro562Leu)
|
rs2038884191
|
|
NM_002834.5(PTPN11):c.222G>A (p.Leu74=)
|
rs1429492147
|
|
NM_002834.5(PTPN11):c.289G>A (p.Glu97Lys)
|
rs397507516
|
|
NM_002834.5(PTPN11):c.329A>G (p.Glu110Gly)
|
rs397507519
|
|
NM_002834.5(PTPN11):c.762ACA[2] (p.Gln257del)
|
rs397507524
|
|
NM_002834.5(PTPN11):c.770A>G (p.Gln257Arg)
|
rs2038442309
|
|
NM_002834.5(PTPN11):c.788A>G (p.Tyr263Cys)
|
rs763617831
|
|
NM_002834.5(PTPN11):c.865A>G (p.Arg289Gly)
|
rs2135901005
|
|
NM_005188.4(CBL):c.-125_-116delinsT
|
rs886047763
|
|
NM_005188.4(CBL):c.1163A>G (p.Asp388Gly)
|
rs2135303762
|
|
NM_005188.4(CBL):c.1243G>A (p.Gly415Ser)
|
rs756530482
|
|
NM_005188.4(CBL):c.1298C>A (p.Pro433Gln)
|
rs140627020
|
|
NM_005188.4(CBL):c.1618C>T (p.Arg540Ter)
|
rs764340189
|
|
NM_005188.4(CBL):c.1619G>A (p.Arg540Gln)
|
rs980503623
|
|
NM_005188.4(CBL):c.1676G>A (p.Arg559Gln)
|
rs143034856
|
|
NM_005188.4(CBL):c.1850G>T (p.Arg617Leu)
|
rs780457588
|
|
NM_005188.4(CBL):c.2393CCT[1] (p.Ser799del)
|
rs755938138
|
|
NM_005188.4(CBL):c.2435-1_2435del
|
rs749424087
|
|
NM_005188.4(CBL):c.2502A>T (p.Glu834Asp)
|
rs1950085952
|
|
NM_005188.4(CBL):c.2519G>A (p.Cys840Tyr)
|
rs376536789
|
|