NM_001042492.3(NF1):c.5906A>T (p.Gln1969Leu)
|
rs143502927
|
0.00029
|
NM_001042492.3(NF1):c.6172A>G (p.Ile2058Val)
|
rs201712827
|
0.00017
|
NM_001042492.3(NF1):c.3436G>A (p.Val1146Ile)
|
rs201047812
|
0.00015
|
NM_001042492.3(NF1):c.2032C>G (p.Pro678Ala)
|
rs758691069
|
0.00013
|
NM_001042492.3(NF1):c.2191C>T (p.Leu731Phe)
|
rs185204667
|
0.00012
|
NM_001042492.3(NF1):c.4836-3T>C
|
rs372460369
|
0.00009
|
NM_001042492.3(NF1):c.8105A>T (p.Tyr2702Phe)
|
rs201824349
|
0.00008
|
NM_001042492.3(NF1):c.1528-10T>C
|
rs376174484
|
0.00007
|
NM_001042492.3(NF1):c.4943C>T (p.Thr1648Ile)
|
rs376655102
|
0.00007
|
NM_001042492.3(NF1):c.3686A>G (p.Asn1229Ser)
|
rs140523180
|
0.00006
|
NM_001042492.3(NF1):c.4526G>A (p.Arg1509His)
|
rs546073780
|
0.00006
|
NM_001042492.3(NF1):c.5961G>A (p.Gln1987=)
|
rs757536610
|
0.00006
|
NM_001042492.3(NF1):c.7520C>T (p.Thr2507Ile)
|
rs149055633
|
0.00006
|
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_001042492.3(NF1):c.181A>G (p.Ile61Val)
|
rs754295034
|
0.00004
|
NM_001042492.3(NF1):c.3883A>G (p.Thr1295Ala)
|
rs143836226
|
0.00004
|
NM_001042492.3(NF1):c.61-9T>C
|
rs780956522
|
0.00004
|
NM_001042492.3(NF1):c.6428-3C>T
|
rs374014162
|
0.00004
|
NM_001042492.3(NF1):c.6664A>G (p.Thr2222Ala)
|
rs745945481
|
0.00004
|
NM_001042492.3(NF1):c.7528A>G (p.Thr2510Ala)
|
rs145794301
|
0.00004
|
NM_001042492.3(NF1):c.134A>G (p.Asn45Ser)
|
rs753189381
|
0.00003
|
NM_001042492.3(NF1):c.2570A>G (p.Asn857Ser)
|
rs1060500299
|
0.00003
|
NM_001042492.3(NF1):c.2747A>G (p.Asn916Ser)
|
rs765043916
|
0.00003
|
NM_001042492.3(NF1):c.8216T>C (p.Ile2739Thr)
|
rs752541243
|
0.00003
|
NM_001042492.3(NF1):c.3374C>T (p.Ala1125Val)
|
rs902739109
|
0.00002
|
NM_001042492.3(NF1):c.3970A>G (p.Thr1324Ala)
|
rs189522993
|
0.00002
|
NM_001042492.3(NF1):c.4110+4T>C
|
rs587781700
|
0.00002
|
NM_001042492.3(NF1):c.4958G>A (p.Arg1653His)
|
rs763413441
|
0.00002
|
NM_001042492.3(NF1):c.5470A>G (p.Ile1824Val)
|
rs370858405
|
0.00002
|
NM_001042492.3(NF1):c.7523A>G (p.Tyr2508Cys)
|
rs762169098
|
0.00002
|
NM_001042492.3(NF1):c.7869+6G>A
|
rs864622318
|
0.00002
|
NM_001042492.3(NF1):c.8073T>G (p.His2691Gln)
|
rs375468032
|
0.00002
|
NM_001042492.3(NF1):c.1392+7T>C
|
rs773017698
|
0.00001
|
NM_001042492.3(NF1):c.1549G>A (p.Glu517Lys)
|
rs587778548
|
0.00001
|
NM_001042492.3(NF1):c.1769T>C (p.Met590Thr)
|
rs761559887
|
0.00001
|
NM_001042492.3(NF1):c.1900A>G (p.Ile634Val)
|
rs745906742
|
0.00001
|
NM_001042492.3(NF1):c.2189A>C (p.Asn730Thr)
|
rs778033578
|
0.00001
|
NM_001042492.3(NF1):c.2248A>G (p.Thr750Ala)
|
rs748064845
|
0.00001
|
NM_001042492.3(NF1):c.2447G>A (p.Arg816Gln)
|
rs762709897
|
0.00001
|
NM_001042492.3(NF1):c.2581G>C (p.Ala861Pro)
|
rs768425956
|
0.00001
|
NM_001042492.3(NF1):c.2622G>A (p.Lys874=)
|
rs77917884
|
0.00001
|
NM_001042492.3(NF1):c.2633T>C (p.Ile878Thr)
|
rs372049168
|
0.00001
|
NM_001042492.3(NF1):c.2659G>A (p.Ala887Thr)
|
rs1251621684
|
0.00001
|
NM_001042492.3(NF1):c.3242C>G (p.Ala1081Gly)
|
rs769941435
|
0.00001
|
NM_001042492.3(NF1):c.3359T>C (p.Val1120Ala)
|
rs751571517
|
0.00001
|
NM_001042492.3(NF1):c.3871-4G>C
|
rs558421445
|
0.00001
|
NM_001042492.3(NF1):c.4382T>C (p.Met1461Thr)
|
rs754639587
|
0.00001
|
NM_001042492.3(NF1):c.4409G>A (p.Ser1470Asn)
|
rs876660093
|
0.00001
|
NM_001042492.3(NF1):c.4835+3A>G
|
rs1417732851
|
0.00001
|
NM_001042492.3(NF1):c.5293A>G (p.Thr1765Ala)
|
rs747584987
|
0.00001
|
NM_001042492.3(NF1):c.541C>G (p.Gln181Glu)
|
rs753529924
|
0.00001
|
NM_001042492.3(NF1):c.5509G>A (p.Asp1837Asn)
|
rs771597781
|
0.00001
|
NM_001042492.3(NF1):c.5610-7C>T
|
rs553657123
|
0.00001
|
NM_001042492.3(NF1):c.587-3C>T
|
rs375188075
|
0.00001
|
NM_001042492.3(NF1):c.6322A>T (p.Thr2108Ser)
|
rs1024333224
|
0.00001
|
NM_001042492.3(NF1):c.6334G>A (p.Ala2112Thr)
|
rs749672954
|
0.00001
|
NM_001042492.3(NF1):c.6480A>G (p.Lys2160=)
|
rs1060503918
|
0.00001
|
NM_001042492.3(NF1):c.6819+6T>C
|
rs1407700643
|
0.00001
|
NM_001042492.3(NF1):c.7087A>G (p.Ile2363Val)
|
rs137966859
|
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.7534G>A (p.Gly2512Ser)
|
rs766496842
|
0.00001
|
NM_001042492.3(NF1):c.7645T>C (p.Ser2549Pro)
|
rs767458044
|
0.00001
|
NM_001042492.3(NF1):c.7822G>C (p.Glu2608Gln)
|
rs1597866487
|
0.00001
|
NM_001042492.3(NF1):c.7841A>G (p.Lys2614Arg)
|
rs587781502
|
0.00001
|
NM_001042492.3(NF1):c.8378-4C>T
|
rs587782700
|
0.00001
|
NM_001042492.3(NF1):c.83A>C (p.Gln28Pro)
|
rs587782686
|
0.00001
|
NM_001042492.3(NF1):c.8446G>A (p.Gly2816Arg)
|
rs778233452
|
0.00001
|
NM_001042492.3(NF1):c.862G>A (p.Val288Met)
|
rs755670651
|
0.00001
|
NC_000017.10:g.(29687722_29701030)_(29704696_?)dup
|
|
|
NM_001042492.3(NF1):c.*11CTTT[1]
|
|
|
NM_001042492.3(NF1):c.1233A>G (p.Val411=)
|
rs2143886403
|
|
NM_001042492.3(NF1):c.1322A>G (p.Asn441Ser)
|
rs370020114
|
|
NM_001042492.3(NF1):c.1400C>A (p.Thr467Lys)
|
rs1567841729
|
|
NM_001042492.3(NF1):c.1528-9dup
|
rs776722942
|
|
NM_001042492.3(NF1):c.1910G>C (p.Ser637Thr)
|
rs749745247
|
|
NM_001042492.3(NF1):c.1940A>G (p.His647Arg)
|
rs1170252879
|
|
NM_001042492.3(NF1):c.1955G>C (p.Arg652Pro)
|
rs587778549
|
|
NM_001042492.3(NF1):c.1969T>A (p.Ser657Thr)
|
rs1471484159
|
|
NM_001042492.3(NF1):c.1988G>A (p.Gly663Glu)
|
rs2066993661
|
|
NM_001042492.3(NF1):c.2002-4_2002-3del
|
rs786203664
|
|
NM_001042492.3(NF1):c.2014G>A (p.Gly672Arg)
|
rs786202632
|
|
NM_001042492.3(NF1):c.205-9_205-8del
|
rs2143645174
|
|
NM_001042492.3(NF1):c.2236A>G (p.Asn746Asp)
|
rs2151426135
|
|
NM_001042492.3(NF1):c.239A>C (p.Tyr80Ser)
|
rs4795581
|
|
NM_001042492.3(NF1):c.2410-12T>C
|
rs876657932
|
|
NM_001042492.3(NF1):c.2447G>C (p.Arg816Pro)
|
rs762709897
|
|
NM_001042492.3(NF1):c.2761G>A (p.Val921Met)
|
rs567023433
|
|
NM_001042492.3(NF1):c.2850+17T>A
|
|
|
NM_001042492.3(NF1):c.3118A>G (p.Lys1040Glu)
|
rs1555614619
|
|
NM_001042492.3(NF1):c.3467A>G (p.Asn1156Ser)
|
rs199474764
|
|
NM_001042492.3(NF1):c.3668T>G (p.Ile1223Arg)
|
rs1555615091
|
|
NM_001042492.3(NF1):c.3679C>G (p.Leu1227Val)
|
rs876660431
|
|
NM_001042492.3(NF1):c.3797A>G (p.Glu1266Gly)
|
|
|
NM_001042492.3(NF1):c.3833A>T (p.Asn1278Ile)
|
rs2067188951
|
|
NM_001042492.3(NF1):c.389A>G (p.His130Arg)
|
rs876660277
|
|
NM_001042492.3(NF1):c.3912A>T (p.Leu1304Phe)
|
rs2151438597
|
|
NM_001042492.3(NF1):c.3975-7T>C
|
rs2151451258
|
|
NM_001042492.3(NF1):c.4045G>T (p.Ala1349Ser)
|
rs1555617332
|
|
NM_001042492.3(NF1):c.4069T>C (p.Phe1357Leu)
|
rs1207255352
|
|
NM_001042492.3(NF1):c.4074_4075delinsAA (p.Pro1359Thr)
|
rs1555617362
|
|
NM_001042492.3(NF1):c.4174G>A (p.Val1392Met)
|
rs1597744525
|
|
NM_001042492.3(NF1):c.4219A>G (p.Ser1407Gly)
|
rs587781755
|
|
NM_001042492.3(NF1):c.4430+14del
|
rs774927748
|
|
NM_001042492.3(NF1):c.4447G>C (p.Ala1483Pro)
|
|
|
NM_001042492.3(NF1):c.4507A>C (p.Asn1503His)
|
rs1555618837
|
|
NM_001042492.3(NF1):c.4624C>G (p.Leu1542Val)
|
rs1555619011
|
|
NM_001042492.3(NF1):c.4721C>T (p.Thr1574Ile)
|
rs1567863650
|
|
NM_001042492.3(NF1):c.4787C>G (p.Ala1596Gly)
|
rs1567865042
|
|
NM_001042492.3(NF1):c.4790G>T (p.Gly1597Val)
|
rs2067766230
|
|
NM_001042492.3(NF1):c.480-7T>C
|
rs2143706752
|
|
NM_001042492.3(NF1):c.4835G>T (p.Arg1612Met)
|
rs1555619423
|
|
NM_001042492.3(NF1):c.5134C>A (p.Pro1712Thr)
|
rs1567611556
|
|
NM_001042492.3(NF1):c.5254A>G (p.Lys1752Glu)
|
rs2069338262
|
|
NM_001042492.3(NF1):c.5427G>A (p.Pro1809=)
|
rs1281695642
|
|
NM_001042492.3(NF1):c.545A>G (p.Tyr182Cys)
|
rs2143707725
|
|
NM_001042492.3(NF1):c.5476C>G (p.His1826Asp)
|
rs1135402871
|
|
NM_001042492.3(NF1):c.5481C>G (p.Ile1827Met)
|
rs1555533607
|
|
NM_001042492.3(NF1):c.5551_5552delinsTT (p.Pro1851Phe)
|
rs2151541748
|
|
NM_001042492.3(NF1):c.5563C>T (p.Leu1855Phe)
|
rs2069385474
|
|
NM_001042492.3(NF1):c.6161T>A (p.Met2054Lys)
|
rs1555534665
|
|
NM_001042492.3(NF1):c.6227A>G (p.Asp2076Gly)
|
rs1597842820
|
|
NM_001042492.3(NF1):c.6327C>G (p.Phe2109Leu)
|
rs2069688250
|
|
NM_001042492.3(NF1):c.6352C>G (p.Leu2118Val)
|
rs2151554931
|
|
NM_001042492.3(NF1):c.6365C>T (p.Thr2122Ile)
|
rs878853907
|
|
NM_001042492.3(NF1):c.6377T>A (p.Val2126Asp)
|
rs1597843145
|
|
NM_001042492.3(NF1):c.6428-3C>A
|
rs374014162
|
|
NM_001042492.3(NF1):c.655-5T>C
|
rs377264487
|
|
NM_001042492.3(NF1):c.6617C>T (p.Thr2206Ile)
|
rs1555534885
|
|
NM_001042492.3(NF1):c.6643-10C>T
|
rs1597844527
|
|
NM_001042492.3(NF1):c.6702A>G (p.Gln2234=)
|
|
|
NM_001042492.3(NF1):c.6805C>T (p.Arg2269Cys)
|
rs1555534961
|
|
NM_001042492.3(NF1):c.6819+5C>A
|
rs876659499
|
|
NM_001042492.3(NF1):c.6921+10G>A
|
rs767166725
|
|
NM_001042492.3(NF1):c.6931C>A (p.Leu2311Met)
|
rs1044698498
|
|
NM_001042492.3(NF1):c.6978T>C (p.Asp2326=)
|
rs1135402896
|
|
NM_001042492.3(NF1):c.7063-9C>G
|
rs1555535398
|
|
NM_001042492.3(NF1):c.7078T>G (p.Phe2360Val)
|
rs2069866148
|
|
NM_001042492.3(NF1):c.7190-6T>C
|
rs1597858313
|
|
NM_001042492.3(NF1):c.7262A>G (p.Asn2421Ser)
|
rs774339063
|
|
NM_001042492.3(NF1):c.731-8del
|
rs1438618408
|
|
NM_001042492.3(NF1):c.7414C>T (p.Pro2472Ser)
|
rs2151574519
|
|
NM_001042492.3(NF1):c.7842G>T (p.Lys2614Asn)
|
rs1555536710
|
|
NM_001042492.3(NF1):c.7915C>G (p.Leu2639Val)
|
rs1057518362
|
|
NM_001042492.3(NF1):c.7963C>T (p.Pro2655Ser)
|
rs587781791
|
|
NM_001042492.3(NF1):c.7970+7A>G
|
rs1597867052
|
|
NM_001042492.3(NF1):c.7988C>T (p.Ser2663Phe)
|
rs786202579
|
|
NM_001042492.3(NF1):c.814_819del (p.Ile272_Leu273del)
|
rs2143785976
|
|
NM_001042492.3(NF1):c.8162A>G (p.Gln2721Arg)
|
rs876657933
|
|
NM_001042492.3(NF1):c.8303G>T (p.Ser2768Ile)
|
rs2151588087
|
|
NM_001042492.3(NF1):c.8360C>T (p.Thr2787Ile)
|
|
|
NM_001042492.3(NF1):c.8378-13T>C
|
rs903336927
|
|
NM_001042492.3(NF1):c.839T>C (p.Ile280Thr)
|
rs1555608976
|
|
NM_001042492.3(NF1):c.959C>A (p.Ala320Asp)
|
rs1555610884
|
|