NM_001042492.3(NF1):c.3586C>T (p.Leu1196Phe)
|
rs1555615039
|
0.00001
|
NC_000017.10:g.(?_29475515)_(29490414_?)dup
|
|
|
NC_000017.10:g.(?_29482991)_(29548957_?)dup
|
|
|
NC_000017.10:g.(?_29508426)_(29510472_?)dup
|
|
|
NC_000017.10:g.(?_29540877)_(29563299_?)dup
|
|
|
NC_000017.10:g.(?_29541449)_(29557963_?)dup
|
|
|
NC_000017.10:g.(?_29556023)_(29563059_?)dup
|
|
|
NC_000017.10:g.(?_29556977)_(29561861_?)del
|
|
|
NC_000017.10:g.(?_29562619)_(29563299_?)dup
|
|
|
NC_000017.10:g.(?_29575982)_(29587553_?)del
|
|
|
NC_000017.10:g.(?_29575992)_(29587543_?)del
|
|
|
NC_000017.10:g.(?_29585352)_(29588885_?)dup
|
|
|
NC_000017.10:g.(?_29652828)_(29657526_?)dup
|
|
|
NC_000017.10:g.(?_29663341)_(29665833_?)del
|
|
|
NC_000017.10:g.(?_29679379)_(29680920_?)del
|
|
|
NC_000017.11:g.(?_31169881)_(31249129_?)dup
|
|
|
NC_000017.11:g.(?_31336313)_(31340665_?)del
|
|
|
NC_000017.11:g.(?_31342999)_(31360713_?)del
|
|
|
NM_000267.3(NF1):c.3015_3315-230del
|
|
|
NM_000267.3(NF1):c.5944-?_6858+?del
|
|
|
NM_001042492.3(NF1):c.1061_1062+12del
|
|
|
NM_001042492.3(NF1):c.1062+2dup
|
rs2066510417
|
|
NM_001042492.3(NF1):c.1062G>C (p.Lys354Asn)
|
rs1131691118
|
|
NM_001042492.3(NF1):c.1062G>T (p.Lys354Asn)
|
rs1131691118
|
|
NM_001042492.3(NF1):c.1062_1062+6del
|
rs2066510244
|
|
NM_001042492.3(NF1):c.1063-3_1063del
|
|
|
NM_001042492.3(NF1):c.1139T>A (p.Leu380His)
|
rs1555611004
|
|
NM_001042492.3(NF1):c.1183_1185+2del
|
rs1555611039
|
|
NM_001042492.3(NF1):c.1185G>A (p.Lys395=)
|
rs1567835847
|
|
NM_001042492.3(NF1):c.1186-2A>G
|
rs1373365576
|
|
NM_001042492.3(NF1):c.122A>T (p.Glu41Val)
|
rs786203038
|
|
NM_001042492.3(NF1):c.1251_1260+25del
|
rs2066528976
|
|
NM_001042492.3(NF1):c.1260+1del
|
rs2143887087
|
|
NM_001042492.3(NF1):c.1260+2_1260+3insTT
|
rs1597682922
|
|
NM_001042492.3(NF1):c.1260+5G>C
|
rs1060500253
|
|
NM_001042492.3(NF1):c.128T>A (p.Leu43Gln)
|
rs1555604899
|
|
NM_001042492.3(NF1):c.1328T>C (p.Phe443Ser)
|
rs1555611581
|
|
NM_001042492.3(NF1):c.1392+2del
|
rs1597689068
|
|
NM_001042492.3(NF1):c.1393-3_1393-2del
|
rs2066785062
|
|
NM_001042492.3(NF1):c.1393-592A>G
|
rs2066773116
|
|
NM_001042492.3(NF1):c.1393-5_1398del
|
rs2143958483
|
|
NM_001042492.3(NF1):c.1393-7_1393-2del
|
|
|
NM_001042492.3(NF1):c.140C>T (p.Ser47Phe)
|
|
|
NM_001042492.3(NF1):c.1513A>G (p.Lys505Glu)
|
rs2066787606
|
|
NM_001042492.3(NF1):c.1527+5G>T
|
rs1060500352
|
|
NM_001042492.3(NF1):c.1528-2A>C
|
rs1368005133
|
|
NM_001042492.3(NF1):c.1528-2A>G
|
rs1368005133
|
|
NM_001042492.3(NF1):c.1585C>T (p.Leu529Phe)
|
rs1135402816
|
|
NM_001042492.3(NF1):c.1586T>G (p.Leu529Arg)
|
|
|
NM_001042492.3(NF1):c.1634C>A (p.Ala545Glu)
|
|
|
NM_001042492.3(NF1):c.1642-10A>G
|
rs1597706578
|
|
NM_001042492.3(NF1):c.1655T>A (p.Leu552His)
|
|
|
NM_001042492.3(NF1):c.1655T>C (p.Leu552Pro)
|
rs1555613193
|
|
NM_001042492.3(NF1):c.1657C>G (p.His553Asp)
|
|
|
NM_001042492.3(NF1):c.1720A>G (p.Ser574Gly)
|
|
|
NM_001042492.3(NF1):c.1730T>G (p.Met577Arg)
|
|
|
NM_001042492.3(NF1):c.173T>C (p.Leu58Pro)
|
rs1597626094
|
|
NM_001042492.3(NF1):c.173T>G (p.Leu58Arg)
|
rs1597626094
|
|
NM_001042492.3(NF1):c.1745G>T (p.Cys582Phe)
|
rs2066962321
|
|
NM_001042492.3(NF1):c.175A>C (p.Thr59Pro)
|
|
|
NM_001042492.3(NF1):c.1808T>A (p.Ile603Lys)
|
rs2144016800
|
|
NM_001042492.3(NF1):c.1845+3_1845+4insGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAGGTA
|
|
|
NM_001042492.3(NF1):c.2001+1G>A
|
rs2066994053
|
|
NM_001042492.3(NF1):c.2002-2_2002-1del
|
rs2151425505
|
|
NM_001042492.3(NF1):c.2002-4_2010del
|
rs878853871
|
|
NM_001042492.3(NF1):c.2072T>C (p.Leu691Pro)
|
rs1131691132
|
|
NM_001042492.3(NF1):c.2342A>C (p.His781Pro)
|
rs199474763
|
|
NM_001042492.3(NF1):c.2350T>G (p.Trp784Gly)
|
|
|
NM_001042492.3(NF1):c.2375T>A (p.Leu792His)
|
rs1597713777
|
|
NM_001042492.3(NF1):c.2396_2409+4del
|
rs2067039276
|
|
NM_001042492.3(NF1):c.243_254delinsTGAGAGAGA (p.Ser82_Ile85delinsGluArgAsp)
|
rs1597629809
|
|
NM_001042492.3(NF1):c.2509T>C (p.Trp837Arg)
|
rs587781747
|
|
NM_001042492.3(NF1):c.2534G>T (p.Cys845Phe)
|
rs1060500367
|
|
NM_001042492.3(NF1):c.2693T>A (p.Leu898Gln)
|
rs199474786
|
|
NM_001042492.3(NF1):c.2851-1_2857del
|
|
|
NM_001042492.3(NF1):c.2870_2871delinsTC (p.Asn957Ile)
|
rs2151430516
|
|
NM_001042492.3(NF1):c.288G>A (p.Gly96=)
|
rs1430988476
|
|
NM_001042492.3(NF1):c.2894T>A (p.Ile965Lys)
|
rs1555614438
|
|
NM_001042492.3(NF1):c.2894T>G (p.Ile965Arg)
|
rs1555614438
|
|
NM_001042492.3(NF1):c.2915T>C (p.Leu972Pro)
|
rs1597716348
|
|
NM_001042492.3(NF1):c.2972T>G (p.Met991Arg)
|
rs1060500298
|
|
NM_001042492.3(NF1):c.2990+1del
|
|
|
NM_001042492.3(NF1):c.2990G>A (p.Arg997Lys)
|
rs1555614462
|
|
NM_001042492.3(NF1):c.2990G>C (p.Arg997Thr)
|
rs1555614462
|
|
NM_001042492.3(NF1):c.2990G>T (p.Arg997Met)
|
rs1555614462
|
|
NM_001042492.3(NF1):c.2991-11T>G
|
|
|
NM_001042492.3(NF1):c.2991-3T>G
|
rs1597716778
|
|
NM_001042492.3(NF1):c.2991-8_3000del
|
rs2067089729
|
|
NM_001042492.3(NF1):c.2991G>C (p.Arg997Ser)
|
rs755501749
|
|
NM_001042492.3(NF1):c.2991G>T (p.Arg997Ser)
|
rs755501749
|
|
NM_001042492.3(NF1):c.3047G>T (p.Cys1016Phe)
|
rs2067091492
|
|
NM_001042492.3(NF1):c.3048T>G (p.Cys1016Trp)
|
rs1135402840
|
|
NM_001042492.3(NF1):c.3104T>A (p.Met1035Lys)
|
rs137854553
|
|
NM_001042492.3(NF1):c.3113+2del
|
|
|
NM_001042492.3(NF1):c.3113+5G>T
|
|
|
NM_001042492.3(NF1):c.3114-1G>A
|
rs1555614611
|
|
NM_001042492.3(NF1):c.3114-2A>G
|
rs1428885377
|
|
NM_001042492.3(NF1):c.3118A>G (p.Lys1040Glu)
|
rs1555614619
|
|
NM_001042492.3(NF1):c.3119A>C (p.Lys1040Thr)
|
|
|
NM_001042492.3(NF1):c.3197+2del
|
rs1597717694
|
|
NM_001042492.3(NF1):c.3197+491_3384del
|
|
|
NM_001042492.3(NF1):c.3250C>A (p.Pro1084Thr)
|
rs1555614848
|
|
NM_001042492.3(NF1):c.3250C>G (p.Pro1084Ala)
|
rs1555614848
|
|
NM_001042492.3(NF1):c.3251C>T (p.Pro1084Leu)
|
rs1164081667
|
|
NM_001042492.3(NF1):c.3295A>G (p.Lys1099Glu)
|
|
|
NM_001042492.3(NF1):c.3315-8T>G
|
rs764783865
|
|
NM_001042492.3(NF1):c.3317A>G (p.Tyr1106Cys)
|
rs1567850987
|
|
NM_001042492.3(NF1):c.3436G>C (p.Val1146Leu)
|
rs201047812
|
|
NM_001042492.3(NF1):c.3446T>G (p.Met1149Arg)
|
rs1131691121
|
|
NM_001042492.3(NF1):c.3467A>C (p.Asn1156Thr)
|
rs199474764
|
|
NM_001042492.3(NF1):c.3468C>A (p.Asn1156Lys)
|
rs147955381
|
|
NM_001042492.3(NF1):c.3479G>A (p.Gly1160Asp)
|
rs2067138342
|
|
NM_001042492.3(NF1):c.3497-1G>A
|
rs1555615004
|
|
NM_001042492.3(NF1):c.3497-2A>T
|
|
|
NM_001042492.3(NF1):c.3503G>A (p.Gly1168Asp)
|
rs2151435263
|
|
NM_001042492.3(NF1):c.3509A>T (p.His1170Leu)
|
rs1597719889
|
|
NM_001042492.3(NF1):c.350T>G (p.Ile117Ser)
|
rs199474731
|
|
NM_001042492.3(NF1):c.3545T>C (p.Val1182Ala)
|
rs2067142076
|
|
NM_001042492.3(NF1):c.3560T>G (p.Leu1187Arg)
|
rs2151435424
|
|
NM_001042492.3(NF1):c.3572C>G (p.Thr1191Arg)
|
rs2151435462
|
|
NM_001042492.3(NF1):c.3572C>T (p.Thr1191Ile)
|
|
|
NM_001042492.3(NF1):c.3577T>A (p.Phe1193Ile)
|
rs2151435475
|
|
NM_001042492.3(NF1):c.3577T>G (p.Phe1193Val)
|
|
|
NM_001042492.3(NF1):c.3595A>C (p.Thr1199Pro)
|
|
|
NM_001042492.3(NF1):c.3596C>G (p.Thr1199Arg)
|
rs1555615047
|
|
NM_001042492.3(NF1):c.3623T>G (p.Leu1208Trp)
|
rs1060500374
|
|
NM_001042492.3(NF1):c.3641T>G (p.Met1214Arg)
|
rs1567851416
|
|
NM_001042492.3(NF1):c.3649G>A (p.Asp1217Asn)
|
|
|
NM_001042492.3(NF1):c.3650A>T (p.Asp1217Val)
|
|
|
NM_001042492.3(NF1):c.3708+5G>A
|
rs1597720280
|
|
NM_001042492.3(NF1):c.3709_3714del (p.Asp1237_Glu1238del)
|
rs2151437703
|
|
NM_001042492.3(NF1):c.3716T>G (p.Leu1239Arg)
|
rs1597722390
|
|
NM_001042492.3(NF1):c.3728T>C (p.Leu1243Pro)
|
rs137854564
|
|
NM_001042492.3(NF1):c.3728T>G (p.Leu1243Arg)
|
rs137854564
|
|
NM_001042492.3(NF1):c.3737T>C (p.Leu1246Pro)
|
rs2151437777
|
|
NM_001042492.3(NF1):c.3772T>C (p.Trp1258Arg)
|
rs1597722508
|
|
NM_001042492.3(NF1):c.3790G>A (p.Glu1264Lys)
|
rs863224660
|
|
NM_001042492.3(NF1):c.3832A>T (p.Asn1278Tyr)
|
rs1306874240
|
|
NM_001042492.3(NF1):c.3833A>T (p.Asn1278Ile)
|
rs2067188951
|
|
NM_001042492.3(NF1):c.3849AAT[1] (p.Ile1284del)
|
|
|
NM_001042492.3(NF1):c.3870G>C (p.Lys1290Asn)
|
rs1555615497
|
|
NM_001042492.3(NF1):c.3974+2T>C
|
rs1555615567
|
|
NM_001042492.3(NF1):c.3975-11_3978del
|
|
|
NM_001042492.3(NF1):c.4027A>C (p.Thr1343Pro)
|
rs2151451431
|
|
NM_001042492.3(NF1):c.4110+1del
|
rs2151451697
|
|
NM_001042492.3(NF1):c.4174-2del
|
rs2151461734
|
|
NM_001042492.3(NF1):c.4226T>G (p.Met1409Arg)
|
rs1555618508
|
|
NM_001042492.3(NF1):c.4235G>A (p.Arg1412Lys)
|
|
|
NM_001042492.3(NF1):c.4236A>C (p.Arg1412Ser)
|
rs137854554
|
|
NM_001042492.3(NF1):c.4243A>G (p.Asn1415Asp)
|
rs1555618518
|
|
NM_001042492.3(NF1):c.4243A>T (p.Asn1415Tyr)
|
rs1555618518
|
|
NM_001042492.3(NF1):c.4256T>A (p.Val1419Asp)
|
rs1555618528
|
|
NM_001042492.3(NF1):c.4321T>G (p.Leu1441Val)
|
|
|
NM_001042492.3(NF1):c.4348G>A (p.Ala1450Thr)
|
rs2151462979
|
|
NM_001042492.3(NF1):c.4370A>G (p.Lys1457Arg)
|
rs1555618656
|
|
NM_001042492.3(NF1):c.4371A>T (p.Lys1457Asn)
|
rs1555618658
|
|
NM_001042492.3(NF1):c.4381A>G (p.Met1461Val)
|
rs1555618675
|
|
NM_001042492.3(NF1):c.4382T>G (p.Met1461Arg)
|
rs754639587
|
|
NM_001042492.3(NF1):c.4383G>A (p.Met1461Ile)
|
rs1555618677
|
|
NM_001042492.3(NF1):c.4397_4423del (p.Asp1466_Ala1474del)
|
rs2151463132
|
|
NM_001042492.3(NF1):c.4430+2T>C
|
rs1555618693
|
|
NM_001042492.3(NF1):c.4431-9T>G
|
rs1597746884
|
|
NM_001042492.3(NF1):c.4532T>G (p.Leu1511Arg)
|
rs1135402864
|
|
NM_001042492.3(NF1):c.4544A>G (p.Gln1515Arg)
|
rs1135402865
|
|
NM_001042492.3(NF1):c.4606T>G (p.Phe1536Val)
|
|
|
NM_001042492.3(NF1):c.4634_4636del (p.Tyr1545del)
|
|
|
NM_001042492.3(NF1):c.4725-15_4725-3del
|
rs2151469964
|
|
NM_001042492.3(NF1):c.4779C>A (p.Phe1593Leu)
|
rs2151470179
|
|
NM_001042492.3(NF1):c.4786G>C (p.Ala1596Pro)
|
rs2151470213
|
|
NM_001042492.3(NF1):c.479+1_479+1356del
|
|
|
NM_001042492.3(NF1):c.479+5G>C
|
rs1567818033
|
|
NM_001042492.3(NF1):c.479+5G>T
|
rs1567818033
|
|
NM_001042492.3(NF1):c.480-5_482del
|
|
|
NM_001042492.3(NF1):c.4829C>A (p.Ala1610Glu)
|
|
|
NM_001042492.3(NF1):c.4868T>C (p.Leu1623Pro)
|
rs2151537585
|
|
NM_001042492.3(NF1):c.4930G>A (p.Asp1644Asn)
|
rs1131691123
|
|
NM_001042492.3(NF1):c.4930G>T (p.Asp1644Tyr)
|
rs1131691123
|
|
NM_001042492.3(NF1):c.4931A>T (p.Asp1644Val)
|
|
|
NM_001042492.3(NF1):c.5032T>G (p.Tyr1678Asp)
|
|
|
NM_001042492.3(NF1):c.5033A>C (p.Tyr1678Ser)
|
rs1555533347
|
|
NM_001042492.3(NF1):c.5033A>G (p.Tyr1678Cys)
|
rs1555533347
|
|
NM_001042492.3(NF1):c.5035_5037del (p.Ile1679del)
|
rs2151538219
|
|
NM_001042492.3(NF1):c.5188A>C (p.Thr1730Pro)
|
|
|
NM_001042492.3(NF1):c.5268+5G>C
|
rs864622551
|
|
NM_001042492.3(NF1):c.5268+5G>T
|
|
|
NM_001042492.3(NF1):c.5269-38A>G
|
rs2151540615
|
|
NM_001042492.3(NF1):c.5269-8C>G
|
rs1597831805
|
|
NM_001042492.3(NF1):c.530T>A (p.Ile177Lys)
|
|
|
NM_001042492.3(NF1):c.530T>G (p.Ile177Arg)
|
rs2143707493
|
|
NM_001042492.3(NF1):c.5476C>G (p.His1826Asp)
|
rs1135402871
|
|
NM_001042492.3(NF1):c.5546A>G (p.Asp1849Gly)
|
|
|
NM_001042492.3(NF1):c.5561T>C (p.Leu1854Pro)
|
rs878853903
|
|
NM_001042492.3(NF1):c.5564T>G (p.Leu1855Arg)
|
rs2069385520
|
|
NM_001042492.3(NF1):c.556G>T (p.Asp186Tyr)
|
rs1567820765
|
|
NM_001042492.3(NF1):c.557A>T (p.Asp186Val)
|
rs1567820771
|
|
NM_001042492.3(NF1):c.5583T>G (p.Asn1861Lys)
|
rs2151541871
|
|
NM_001042492.3(NF1):c.5609+5G>C
|
rs1597832498
|
|
NM_001042492.3(NF1):c.5609_5609+1delinsAA
|
rs2069386760
|
|
NM_001042492.3(NF1):c.5625TCT[1] (p.Leu1877del)
|
rs1131691081
|
|
NM_001042492.3(NF1):c.5629C>A (p.Leu1877Met)
|
|
|
NM_001042492.3(NF1):c.5668G>C (p.Gly1890Arg)
|
rs1597834706
|
|
NM_001042492.3(NF1):c.5767A>T (p.Thr1923Ser)
|
rs2151544901
|
|
NM_001042492.3(NF1):c.5768C>G (p.Thr1923Arg)
|
rs786203824
|
|
NM_001042492.3(NF1):c.5792_5812+7del
|
|
|
NM_001042492.3(NF1):c.5812+1del
|
rs2151545014
|
|
NM_001042492.3(NF1):c.5812+2dup
|
rs1597834973
|
|
NM_001042492.3(NF1):c.5812+4A>C
|
rs1597834988
|
|
NM_001042492.3(NF1):c.5813-1G>A
|
rs1057518974
|
|
NM_001042492.3(NF1):c.5857C>G (p.Leu1953Val)
|
|
|
NM_001042492.3(NF1):c.5924T>C (p.Leu1975Pro)
|
rs1555534411
|
|
NM_001042492.3(NF1):c.6001G>A (p.Gly2001Arg)
|
rs199474751
|
|
NM_001042492.3(NF1):c.6006G>C (p.Gln2002His)
|
rs1555534432
|
|
NM_001042492.3(NF1):c.6023A>C (p.Asp2008Ala)
|
rs2069668717
|
|
NM_001042492.3(NF1):c.6053G>T (p.Ser2018Ile)
|
|
|
NM_001042492.3(NF1):c.6119C>T (p.Ser2040Phe)
|
rs2069671270
|
|
NM_001042492.3(NF1):c.6314A>C (p.His2105Pro)
|
rs1555534726
|
|
NM_001042492.3(NF1):c.6398T>G (p.Leu2133Arg)
|
rs2069690617
|
|
NM_001042492.3(NF1):c.6428-1_6428del
|
|
|
NM_001042492.3(NF1):c.6428-1del
|
|
|
NM_001042492.3(NF1):c.6428-3C>A
|
rs374014162
|
|
NM_001042492.3(NF1):c.6507_6921+170del
|
|
|
NM_001042492.3(NF1):c.6617C>G (p.Thr2206Arg)
|
|
|
NM_001042492.3(NF1):c.6642+18A>G
|
rs1555534893
|
|
NM_001042492.3(NF1):c.6685T>C (p.Trp2229Arg)
|
rs1060500342
|
|
NM_001042492.3(NF1):c.6705-1del
|
|
|
NM_001042492.3(NF1):c.6705-3C>A
|
rs1131691079
|
|
NM_001042492.3(NF1):c.6818A>C (p.Lys2273Thr)
|
|
|
NM_001042492.3(NF1):c.6819G>A (p.Lys2273=)
|
rs1060500373
|
|
NM_001042492.3(NF1):c.6820-3A>G
|
|
|
NM_001042492.3(NF1):c.6845C>T (p.Pro2282Leu)
|
rs2069743547
|
|
NM_001042492.3(NF1):c.6880_6906del (p.Thr2294_Gln2302del)
|
rs2151559288
|
|
NM_001042492.3(NF1):c.6905_6921+8del
|
|
|
NM_001042492.3(NF1):c.6921+4A>G
|
rs752841251
|
|
NM_001042492.3(NF1):c.6921G>A (p.Lys2307=)
|
rs1057523533
|
|
NM_001042492.3(NF1):c.6921G>C (p.Lys2307Asn)
|
rs1057523533
|
|
NM_001042492.3(NF1):c.6944T>G (p.Leu2315Arg)
|
rs2151561538
|
|
NM_001042492.3(NF1):c.6949T>C (p.Trp2317Arg)
|
|
|
NM_001042492.3(NF1):c.7000G>A (p.Gly2334Ser)
|
rs1597848100
|
|
NM_001042492.3(NF1):c.7001G>A (p.Gly2334Asp)
|
rs2151561783
|
|
NM_001042492.3(NF1):c.7010T>G (p.Leu2337Arg)
|
rs1555535179
|
|
NM_001042492.3(NF1):c.7063-10_7066del
|
|
|
NM_001042492.3(NF1):c.7063-7_7063-2del
|
|
|
NM_001042492.3(NF1):c.7156T>A (p.Phe2386Ile)
|
|
|
NM_001042492.3(NF1):c.7172T>A (p.Val2391Asp)
|
rs2069869918
|
|
NM_001042492.3(NF1):c.7189+2_7189+6del
|
|
|
NM_001042492.3(NF1):c.7189G>A (p.Gly2397Arg)
|
rs1135402900
|
|
NM_001042492.3(NF1):c.7226C>G (p.Thr2409Arg)
|
|
|
NM_001042492.3(NF1):c.723_730+4del
|
|
|
NM_001042492.3(NF1):c.7321+2T>C
|
rs2070079311
|
|
NM_001042492.3(NF1):c.7322-1G>A
|
rs2070102904
|
|
NM_001042492.3(NF1):c.7322-1G>C
|
rs2070102904
|
|
NM_001042492.3(NF1):c.7322-2A>T
|
|
|
NM_001042492.3(NF1):c.7457+1G>A
|
rs2151574698
|
|
NM_001042492.3(NF1):c.7457+1G>T
|
rs2151574698
|
|
NM_001042492.3(NF1):c.7458-17T>G
|
rs766585105
|
|
NM_001042492.3(NF1):c.7458-7_7459delinsT
|
rs1555536334
|
|
NM_001042492.3(NF1):c.755TGG[1] (p.Val253del)
|
rs1060500323
|
|
NM_001042492.3(NF1):c.7616-1G>A
|
|
|
NM_001042492.3(NF1):c.787A>G (p.Lys263Glu)
|
rs1597659883
|
|
NM_001042492.3(NF1):c.7968_7970+2del
|
rs2070299730
|
|
NM_001042492.3(NF1):c.7970+2dup
|
rs1597867039
|
|
NM_001042492.3(NF1):c.7970+3A>T
|
|
|
NM_001042492.3(NF1):c.7970+4_7970+7del
|
rs1064794279
|
|
NM_001042492.3(NF1):c.7970+5G>A
|
rs1567627286
|
|
NM_001042492.3(NF1):c.7970+5G>C
|
rs1567627286
|
|
NM_001042492.3(NF1):c.7970+5G>T
|
rs1567627286
|
|
NM_001042492.3(NF1):c.7970+6T>C
|
rs1555536775
|
|
NM_001042492.3(NF1):c.809A>C (p.Gln270Pro)
|
|
|
NM_001042492.3(NF1):c.8160+1G>A
|
rs1555537032
|
|
NM_001042492.3(NF1):c.818T>G (p.Leu273Arg)
|
|
|
NM_001042492.3(NF1):c.8210C>A (p.Ala2737Asp)
|
rs1264511763
|
|
NM_001042492.3(NF1):c.821T>G (p.Leu274Arg)
|
rs2066157974
|
|
NM_001042492.3(NF1):c.888+2_888+5del
|
|
|
NM_001042492.3(NF1):c.959C>A (p.Ala320Asp)
|
rs1555610884
|
|
NM_001042492.3(NF1):c.970T>C (p.Cys324Arg)
|
rs199474735
|
|
NM_001042492.3(NF1):c.971G>A (p.Cys324Tyr)
|
rs778890596
|
|