NM_001042492.3(NF1):c.2350T>C (p.Trp784Arg)
|
rs199474730
|
0.00001
|
NM_001042492.3(NF1):c.278G>A (p.Cys93Tyr)
|
rs199474728
|
0.00001
|
NM_001042492.3(NF1):c.3586C>T (p.Leu1196Phe)
|
rs1555615039
|
0.00001
|
NM_001042492.3(NF1):c.3827G>A (p.Arg1276Gln)
|
rs137854556
|
0.00001
|
NM_001042492.3(NF1):c.4382T>C (p.Met1461Thr)
|
rs754639587
|
0.00001
|
NM_001042492.3(NF1):c.6006G>A (p.Gln2002=)
|
rs1555534432
|
0.00001
|
GRCh37/hg19 17q11.2(chr17:29576002-29576137)x3
|
|
|
NM_001042492.3(NF1):c.1013A>G (p.Asp338Gly)
|
rs199474773
|
|
NM_001042492.3(NF1):c.1019_1020del (p.Ser340fs)
|
rs1555610903
|
|
NM_001042492.3(NF1):c.1061A>G (p.Lys354Arg)
|
rs1135402801
|
|
NM_001042492.3(NF1):c.1062+1G>A
|
rs1597681200
|
|
NM_001042492.3(NF1):c.1062+2T>C
|
rs2066510391
|
|
NM_001042492.3(NF1):c.1062+3A>G
|
rs1057521098
|
|
NM_001042492.3(NF1):c.1062G>A (p.Lys354=)
|
rs1131691118
|
|
NM_001042492.3(NF1):c.1062G>C (p.Lys354Asn)
|
rs1131691118
|
|
NM_001042492.3(NF1):c.1063-2A>G
|
rs1060500358
|
|
NM_001042492.3(NF1):c.1070T>C (p.Leu357Pro)
|
rs137854563
|
|
NM_001042492.3(NF1):c.1070T>G (p.Leu357Arg)
|
rs137854563
|
|
NM_001042492.3(NF1):c.1135T>C (p.Cys379Arg)
|
rs1060500281
|
|
NM_001042492.3(NF1):c.1186-1G>C
|
rs876660782
|
|
NM_001042492.3(NF1):c.1229T>C (p.Leu410Pro)
|
|
|
NM_001042492.3(NF1):c.1235A>G (p.Asn412Ser)
|
rs1567836090
|
|
NM_001042492.3(NF1):c.1260+5G>A
|
rs1060500253
|
|
NM_001042492.3(NF1):c.128T>C (p.Leu43Pro)
|
rs1555604899
|
|
NM_001042492.3(NF1):c.1393-592A>G
|
rs2066773116
|
|
NM_001042492.3(NF1):c.1415dup (p.Thr473fs)
|
|
|
NM_001042492.3(NF1):c.1442del (p.Pro481fs)
|
|
|
NM_001042492.3(NF1):c.1505_1527+1del
|
|
|
NM_001042492.3(NF1):c.1506dup (p.Asp503fs)
|
|
|
NM_001042492.3(NF1):c.1527+5G>A
|
rs1060500352
|
|
NM_001042492.3(NF1):c.1527+5G>T
|
rs1060500352
|
|
NM_001042492.3(NF1):c.1586T>C (p.Leu529Pro)
|
|
|
NM_001042492.3(NF1):c.1641+1G>A
|
rs1555612866
|
|
NM_001042492.3(NF1):c.1642-449A>G
|
rs863224655
|
|
NM_001042492.3(NF1):c.1646T>C (p.Leu549Pro)
|
rs199474758
|
|
NM_001042492.3(NF1):c.1658A>G (p.His553Arg)
|
rs1064794274
|
|
NM_001042492.3(NF1):c.1721+542A>G
|
rs2066942173
|
|
NM_001042492.3(NF1):c.1721G>T (p.Ser574Ile)
|
rs1555613206
|
|
NM_001042492.3(NF1):c.1748A>G (p.Lys583Arg)
|
rs199474760
|
|
NM_001042492.3(NF1):c.1754del (p.Lys584_Leu585insTer)
|
|
|
NM_001042492.3(NF1):c.1801_1803del (p.Arg601del)
|
rs1555613421
|
|
NM_001042492.3(NF1):c.1805_1807del (p.Glu602_Ile603delinsVal)
|
|
|
NM_001042492.3(NF1):c.1845G>T (p.Lys615Asn)
|
rs1131691080
|
|
NM_001042492.3(NF1):c.185T>A (p.Leu62Ter)
|
|
|
NM_001042492.3(NF1):c.204+1G>T
|
rs886039548
|
|
NM_001042492.3(NF1):c.2072T>C (p.Leu691Pro)
|
rs1131691132
|
|
NM_001042492.3(NF1):c.2072T>G (p.Leu691Arg)
|
rs1131691132
|
|
NM_001042492.3(NF1):c.2084T>C (p.Leu695Pro)
|
rs199474761
|
|
NM_001042492.3(NF1):c.2084T>G (p.Leu695Arg)
|
rs199474761
|
|
NM_001042492.3(NF1):c.2125T>C (p.Cys709Arg)
|
rs1131691095
|
|
NM_001042492.3(NF1):c.2158del (p.Arg720fs)
|
rs1597712619
|
|
NM_001042492.3(NF1):c.2268del (p.Arg758fs)
|
rs2151426865
|
|
NM_001042492.3(NF1):c.2288T>C (p.Leu763Pro)
|
rs199474762
|
|
NM_001042492.3(NF1):c.2324A>G (p.Glu775Gly)
|
|
|
NM_001042492.3(NF1):c.2325+3A>G
|
rs1057517848
|
|
NM_001042492.3(NF1):c.2326-1G>T
|
rs1567848100
|
|
NM_001042492.3(NF1):c.2326-2A>C
|
rs1555613975
|
|
NM_001042492.3(NF1):c.2326-3T>G
|
rs876658946
|
|
NM_001042492.3(NF1):c.2329T>A (p.Trp777Arg)
|
rs876658853
|
|
NM_001042492.3(NF1):c.2329T>C (p.Trp777Arg)
|
rs876658853
|
|
NM_001042492.3(NF1):c.2338A>C (p.Thr780Pro)
|
rs1205746953
|
|
NM_001042492.3(NF1):c.2339C>G (p.Thr780Arg)
|
rs199474746
|
|
NM_001042492.3(NF1):c.2342A>C (p.His781Pro)
|
rs199474763
|
|
NM_001042492.3(NF1):c.2389del (p.Ala797fs)
|
rs1555614016
|
|
NM_001042492.3(NF1):c.2410-12T>G
|
rs876657932
|
|
NM_001042492.3(NF1):c.248A>C (p.Gln83Pro)
|
rs1060500360
|
|
NM_001042492.3(NF1):c.2503C>T (p.Gln835Ter)
|
rs1555614207
|
|
NM_001042492.3(NF1):c.2681T>C (p.Phe894Ser)
|
rs1282493551
|
|
NM_001042492.3(NF1):c.2693T>C (p.Leu898Pro)
|
rs199474786
|
|
NM_001042492.3(NF1):c.2693TGT[1] (p.Leu899del)
|
rs1064796946
|
|
NM_001042492.3(NF1):c.277T>C (p.Cys93Arg)
|
rs1555605398
|
|
NM_001042492.3(NF1):c.2786T>C (p.Leu929Pro)
|
rs1555614338
|
|
NM_001042492.3(NF1):c.2791_2800del (p.Pro931fs)
|
rs1064795730
|
|
NM_001042492.3(NF1):c.2798T>C (p.Leu933Pro)
|
rs1555614342
|
|
NM_001042492.3(NF1):c.281T>G (p.Leu94Arg)
|
rs1597629884
|
|
NM_001042492.3(NF1):c.2850+1G>T
|
rs1131691122
|
|
NM_001042492.3(NF1):c.288+4A>G
|
rs781459468
|
|
NM_001042492.3(NF1):c.288+5G>A
|
rs1555605409
|
|
NM_001042492.3(NF1):c.288G>A (p.Gly96=)
|
rs1430988476
|
|
NM_001042492.3(NF1):c.2903T>G (p.Met968Arg)
|
rs199474749
|
|
NM_001042492.3(NF1):c.2964dup (p.Glu989Ter)
|
rs2067084803
|
|
NM_001042492.3(NF1):c.2975T>A (p.Met992Lys)
|
rs1567849596
|
|
NM_001042492.3(NF1):c.2975T>G (p.Met992Arg)
|
rs1567849596
|
|
NM_001042492.3(NF1):c.2978T>G (p.Leu993Ter)
|
rs1555614460
|
|
NM_001042492.3(NF1):c.2984T>C (p.Leu995Pro)
|
rs1597716466
|
|
NM_001042492.3(NF1):c.2989A>G (p.Arg997Gly)
|
rs2067085335
|
|
NM_001042492.3(NF1):c.2990+1G>A
|
rs1135402836
|
|
NM_001042492.3(NF1):c.2990+5G>A
|
rs1555614464
|
|
NM_001042492.3(NF1):c.2991-11T>G
|
|
|
NM_001042492.3(NF1):c.2991-2A>G
|
rs1555614495
|
|
NM_001042492.3(NF1):c.2991G>T (p.Arg997Ser)
|
rs755501749
|
|
NM_001042492.3(NF1):c.3002T>A (p.Val1001Glu)
|
rs1131691844
|
|
NM_001042492.3(NF1):c.3047G>A (p.Cys1016Tyr)
|
rs2067091492
|
|
NM_001042492.3(NF1):c.3058G>T (p.Glu1020Ter)
|
rs2067091885
|
|
NM_001042492.3(NF1):c.3104T>A (p.Met1035Lys)
|
rs137854553
|
|
NM_001042492.3(NF1):c.3104T>C (p.Met1035Thr)
|
rs137854553
|
|
NM_001042492.3(NF1):c.3106A>G (p.Lys1036Glu)
|
rs1567849891
|
|
NM_001042492.3(NF1):c.3113+1G>C
|
rs267606599
|
|
NM_001042492.3(NF1):c.3114-11C>G
|
rs2151432318
|
|
NM_001042492.3(NF1):c.3114-2A>G
|
rs1428885377
|
|
NM_001042492.3(NF1):c.3197+1G>A
|
rs1555614653
|
|
NM_001042492.3(NF1):c.3197G>A (p.Arg1066Lys)
|
rs1555614652
|
|
NM_001042492.3(NF1):c.3198-314G>A
|
rs2067116490
|
|
NM_001042492.3(NF1):c.3212C>T (p.Ala1071Val)
|
rs2151433685
|
|
NM_001042492.3(NF1):c.3239T>C (p.Leu1080Pro)
|
rs1555614833
|
|
NM_001042492.3(NF1):c.3250C>G (p.Pro1084Ala)
|
rs1555614848
|
|
NM_001042492.3(NF1):c.3251C>G (p.Pro1084Arg)
|
rs1164081667
|
|
NM_001042492.3(NF1):c.3295A>G (p.Lys1099Glu)
|
|
|
NM_001042492.3(NF1):c.3301_3302del (p.Gln1101fs)
|
rs1555614866
|
|
NM_001042492.3(NF1):c.3311T>G (p.Leu1104Arg)
|
|
|
NM_001042492.3(NF1):c.3437T>A (p.Val1146Asp)
|
rs2067137147
|
|
NM_001042492.3(NF1):c.3445A>G (p.Met1149Val)
|
rs1187097568
|
|
NM_001042492.3(NF1):c.3447G>A (p.Met1149Ile)
|
rs1064794277
|
|
NM_001042492.3(NF1):c.3447G>C (p.Met1149Ile)
|
rs1064794277
|
|
NM_001042492.3(NF1):c.3449C>T (p.Ser1150Leu)
|
rs1555614972
|
|
NM_001042492.3(NF1):c.3461A>T (p.Asn1154Ile)
|
rs371544233
|
|
NM_001042492.3(NF1):c.3496+5G>A
|
rs786202564
|
|
NM_001042492.3(NF1):c.3544G>C (p.Val1182Leu)
|
rs1555615027
|
|
NM_001042492.3(NF1):c.3545T>G (p.Val1182Gly)
|
|
|
NM_001042492.3(NF1):c.3568G>A (p.Gly1190Ser)
|
rs1597719982
|
|
NM_001042492.3(NF1):c.3586C>G (p.Leu1196Val)
|
rs1555615039
|
|
NM_001042492.3(NF1):c.3587T>G (p.Leu1196Arg)
|
rs199474741
|
|
NM_001042492.3(NF1):c.3596C>T (p.Thr1199Ile)
|
rs1555615047
|
|
NM_001042492.3(NF1):c.3610C>G (p.Arg1204Gly)
|
rs199474732
|
|
NM_001042492.3(NF1):c.3641T>A (p.Met1214Lys)
|
rs1567851416
|
|
NM_001042492.3(NF1):c.3662T>G (p.Leu1221Arg)
|
rs1597720167
|
|
NM_001042492.3(NF1):c.3706T>C (p.Trp1236Arg)
|
rs1555615111
|
|
NM_001042492.3(NF1):c.3708+5G>A
|
rs1597720280
|
|
NM_001042492.3(NF1):c.3728T>C (p.Leu1243Pro)
|
rs137854564
|
|
NM_001042492.3(NF1):c.3831C>T (p.Gly1277=)
|
rs1597722611
|
|
NM_001042492.3(NF1):c.3834C>G (p.Asn1278Lys)
|
rs1135402850
|
|
NM_001042492.3(NF1):c.3851del (p.Ile1284fs)
|
|
|
NM_001042492.3(NF1):c.3870+1G>C
|
rs1131691075
|
|
NM_001042492.3(NF1):c.3875A>G (p.Tyr1292Cys)
|
rs1060500243
|
|
NM_001042492.3(NF1):c.3974+260T>G
|
rs1567853044
|
|
NM_001042492.3(NF1):c.4110+1G>A
|
rs1555617383
|
|
NM_001042492.3(NF1):c.4110+1G>T
|
rs1555617383
|
|
NM_001042492.3(NF1):c.412G>C (p.Ala138Pro)
|
rs1597635936
|
|
NM_001042492.3(NF1):c.4231C>T (p.Leu1411Phe)
|
rs199474789
|
|
NM_001042492.3(NF1):c.4236A>T (p.Arg1412Ser)
|
rs137854554
|
|
NM_001042492.3(NF1):c.4243A>C (p.Asn1415His)
|
rs1555618518
|
|
NM_001042492.3(NF1):c.4247C>T (p.Pro1416Leu)
|
rs1555618521
|
|
NM_001042492.3(NF1):c.4318A>C (p.Lys1440Gln)
|
rs199474790
|
|
NM_001042492.3(NF1):c.4328C>T (p.Ser1443Leu)
|
rs1555618566
|
|
NM_001042492.3(NF1):c.4332G>A (p.Lys1444=)
|
rs199474750
|
|
NM_001042492.3(NF1):c.4332G>T (p.Lys1444Asn)
|
rs199474750
|
|
NM_001042492.3(NF1):c.4333-2A>G
|
rs1555618634
|
|
NM_001042492.3(NF1):c.4337T>C (p.Leu1446Pro)
|
rs199474733
|
|
NM_001042492.3(NF1):c.4341G>C (p.Gln1447His)
|
rs876660206
|
|
NM_001042492.3(NF1):c.4352A>T (p.Asn1451Ile)
|
rs199474754
|
|
NM_001042492.3(NF1):c.4369A>G (p.Lys1457Glu)
|
rs878853893
|
|
NM_001042492.3(NF1):c.4369_4371del (p.Lys1457del)
|
rs1555618653
|
|
NM_001042492.3(NF1):c.4382T>A (p.Met1461Lys)
|
rs754639587
|
|
NM_001042492.3(NF1):c.4382T>G (p.Met1461Arg)
|
rs754639587
|
|
NM_001042492.3(NF1):c.4406_4418del (p.Lys1469fs)
|
rs1567862349
|
|
NM_001042492.3(NF1):c.4532T>C (p.Leu1511Pro)
|
rs1135402864
|
|
NM_001042492.3(NF1):c.4544A>G (p.Gln1515Arg)
|
rs1135402865
|
|
NM_001042492.3(NF1):c.4557del (p.Gln1520fs)
|
|
|
NM_001042492.3(NF1):c.4578-1G>C
|
rs1555618999
|
|
NM_001042492.3(NF1):c.4604_4606del (p.Pro1535_Phe1536delinsLeu)
|
|
|
NM_001042492.3(NF1):c.4627C>T (p.Leu1543Phe)
|
rs2151466305
|
|
NM_001042492.3(NF1):c.4724G>C (p.Arg1575Thr)
|
rs2151466553
|
|
NM_001042492.3(NF1):c.4791dup (p.Thr1598fs)
|
rs1253123816
|
|
NM_001042492.3(NF1):c.4796C>A (p.Ser1599Tyr)
|
rs1555619407
|
|
NM_001042492.3(NF1):c.4812_4814delinsA (p.Ile1605fs)
|
|
|
NM_001042492.3(NF1):c.4834A>G (p.Arg1612Gly)
|
rs755137259
|
|
NM_001042492.3(NF1):c.4835+1G>T
|
rs1085307819
|
|
NM_001042492.3(NF1):c.4836-1G>A
|
rs1057518326
|
|
NM_001042492.3(NF1):c.4877A>C (p.His1626Pro)
|
|
|
NM_001042492.3(NF1):c.4880T>A (p.Val1627Asp)
|
rs1567611231
|
|
NM_001042492.3(NF1):c.4934T>G (p.Leu1645Arg)
|
rs1555533305
|
|
NM_001042492.3(NF1):c.4947del (p.Pro1650fs)
|
rs2151537841
|
|
NM_001042492.3(NF1):c.5033A>C (p.Tyr1678Ser)
|
rs1555533347
|
|
NM_001042492.3(NF1):c.5157del (p.Ile1719fs)
|
rs1555533382
|
|
NM_001042492.3(NF1):c.5170C>T (p.Gln1724Ter)
|
|
|
NM_001042492.3(NF1):c.5247dup (p.Asp1750fs)
|
rs1555533409
|
|
NM_001042492.3(NF1):c.5253dup (p.Lys1752fs)
|
|
|
NM_001042492.3(NF1):c.5268+1G>A
|
|
|
NM_001042492.3(NF1):c.5268+3_5268+6del
|
|
|
NM_001042492.3(NF1):c.5269-1G>C
|
rs876660141
|
|
NM_001042492.3(NF1):c.5311A>G (p.Lys1771Glu)
|
rs1131691103
|
|
NM_001042492.3(NF1):c.543_545dup (p.Tyr182Ter)
|
|
|
NM_001042492.3(NF1):c.5488C>G (p.Arg1830Gly)
|
rs797045139
|
|
NM_001042492.3(NF1):c.5489G>A (p.Arg1830His)
|
rs771529172
|
|
NM_001042492.3(NF1):c.5498T>C (p.Leu1833Pro)
|
rs2151541565
|
|
NM_001042492.3(NF1):c.5516del (p.Ile1839fs)
|
rs1597832304
|
|
NM_001042492.3(NF1):c.5534T>G (p.Ile1845Ser)
|
rs1060500339
|
|
NM_001042492.3(NF1):c.5545G>A (p.Asp1849Asn)
|
rs2151541722
|
|
NM_001042492.3(NF1):c.5546A>T (p.Asp1849Val)
|
rs1170679293
|
|
NM_001042492.3(NF1):c.5551C>T (p.Pro1851Ser)
|
rs267604793
|
|
NM_001042492.3(NF1):c.5552C>A (p.Pro1851His)
|
|
|
NM_001042492.3(NF1):c.5577dup (p.Leu1860fs)
|
rs2151541844
|
|
NM_001042492.3(NF1):c.5610-3T>G
|
|
|
NM_001042492.3(NF1):c.5652T>A (p.Phe1884Leu)
|
rs1567613616
|
|
NM_001042492.3(NF1):c.5744T>C (p.Leu1915Pro)
|
rs1555533875
|
|
NM_001042492.3(NF1):c.5788T>C (p.Cys1930Arg)
|
rs2069454402
|
|
NM_001042492.3(NF1):c.586delinsTTAA (p.Glu196delinsLeuLys)
|
rs1555607123
|
|
NM_001042492.3(NF1):c.587-3C>A
|
rs375188075
|
|
NM_001042492.3(NF1):c.6007-1G>C
|
rs1555534596
|
|
NM_001042492.3(NF1):c.6007-1G>T
|
rs1555534596
|
|
NM_001042492.3(NF1):c.6023A>G (p.Asp2008Gly)
|
rs2069668717
|
|
NM_001042492.3(NF1):c.61-2A>G
|
rs1131691100
|
|
NM_001042492.3(NF1):c.61-7486G>T
|
rs1597617010
|
|
NM_001042492.3(NF1):c.6109G>A (p.Ala2037Thr)
|
rs1555534612
|
|
NM_001042492.3(NF1):c.6147+2T>C
|
rs1555534621
|
|
NM_001042492.3(NF1):c.6320_6345dup (p.Leu2116_Ser2117insLeuSerTer)
|
|
|
NM_001042492.3(NF1):c.6350_6353del (p.Ser2117fs)
|
rs1064795492
|
|
NM_001042492.3(NF1):c.6427+5G>A
|
rs1060500311
|
|
NM_001042492.3(NF1):c.6428-11T>G
|
rs2151555896
|
|
NM_001042492.3(NF1):c.6428-3C>G
|
rs374014162
|
|
NM_001042492.3(NF1):c.647T>G (p.Leu216Arg)
|
rs199474756
|
|
NM_001042492.3(NF1):c.6556_6557del (p.Ser2186fs)
|
rs2069706454
|
|
NM_001042492.3(NF1):c.660_665del (p.Asn222_Trp223del)
|
rs1064796137
|
|
NM_001042492.3(NF1):c.6642+18A>G
|
rs1555534893
|
|
NM_001042492.3(NF1):c.6642G>C (p.Glu2214Asp)
|
rs876660207
|
|
NM_001042492.3(NF1):c.667T>C (p.Trp223Arg)
|
rs1555608740
|
|
NM_001042492.3(NF1):c.6704+1del
|
rs1597844692
|
|
NM_001042492.3(NF1):c.6794del (p.Lys2265fs)
|
rs1597845155
|
|
NM_001042492.3(NF1):c.6798del (p.Gln2266_Ile2267insTer)
|
rs2069727438
|
|
NM_001042492.3(NF1):c.6921+1G>T
|
rs1060500355
|
|
NM_001042492.3(NF1):c.6921+3A>G
|
rs1085307885
|
|
NM_001042492.3(NF1):c.6921+4A>G
|
rs752841251
|
|
NM_001042492.3(NF1):c.6953_6955dup (p.Val2318_Ala2319insVal)
|
|
|
NM_001042492.3(NF1):c.7063-4A>G
|
rs749805168
|
|
NM_001042492.3(NF1):c.7153AACTTT[1] (p.2385NF[1])
|
rs864622639
|
|
NM_001042492.3(NF1):c.7181T>C (p.Leu2394Pro)
|
rs1135402899
|
|
NM_001042492.3(NF1):c.7189G>A (p.Gly2397Arg)
|
rs1135402900
|
|
NM_001042492.3(NF1):c.7190-1G>C
|
|
|
NM_001042492.3(NF1):c.7226C>T (p.Thr2409Ile)
|
rs1597858415
|
|
NM_001042492.3(NF1):c.723_731del (p.Asp241_Ala243del)
|
rs1567826158
|
|
NM_001042492.3(NF1):c.7246CTA[1] (p.Leu2417del)
|
rs1555536023
|
|
NM_001042492.3(NF1):c.7317AGC[1] (p.Ala2441del)
|
rs1085307506
|
|
NM_001042492.3(NF1):c.746T>C (p.Leu249Pro)
|
rs1567826623
|
|
NM_001042492.3(NF1):c.7577dup (p.Met2526fs)
|
rs1555536367
|
|
NM_001042492.3(NF1):c.7647del (p.Asp2550fs)
|
rs1597865773
|
|
NM_001042492.3(NF1):c.7666dup (p.Arg2556fs)
|
rs2151581134
|
|
NM_001042492.3(NF1):c.7949_7950del (p.Phe2650fs)
|
rs2070298779
|
|
NM_001042492.3(NF1):c.7970+5G>A
|
rs1567627286
|
|
NM_001042492.3(NF1):c.7970+5G>T
|
rs1567627286
|
|
NM_001042492.3(NF1):c.79C>T (p.Gln27Ter)
|
rs1060500363
|
|
NM_001042492.3(NF1):c.809A>C (p.Gln270Pro)
|
|
|
NM_001042492.3(NF1):c.888+789A>G
|
rs1597660974
|
|
NM_001042492.3(NF1):c.972T>A (p.Cys324Ter)
|
rs1597680938
|
|