|
NM_001042492.3(NF1):c.6148-13T>A
|
rs1411146465
|
0.00003
|
|
NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu)
|
rs137854550
|
0.00002
|
|
NM_001042492.3(NF1):c.1260+1G>A
|
rs267606603
|
0.00001
|
|
NM_001042492.3(NF1):c.1261-1G>A
|
rs2066618707
|
0.00001
|
|
NM_001042492.3(NF1):c.1307C>A (p.Ser436Ter)
|
rs755190083
|
0.00001
|
|
NM_001042492.3(NF1):c.1318C>T (p.Arg440Ter)
|
rs778405030
|
0.00001
|
|
NM_001042492.3(NF1):c.1466A>G (p.Tyr489Cys)
|
rs137854557
|
0.00001
|
|
NM_001042492.3(NF1):c.1541_1542del (p.Gln514fs)
|
rs267606600
|
0.00001
|
|
NM_001042492.3(NF1):c.1627C>T (p.Gln543Ter)
|
rs894292181
|
0.00001
|
|
NM_001042492.3(NF1):c.1721+1G>A
|
rs1131691096
|
0.00001
|
|
NM_001042492.3(NF1):c.2041C>T (p.Arg681Ter)
|
rs768638173
|
0.00001
|
|
NM_001042492.3(NF1):c.205-6T>A
|
rs1243948503
|
0.00001
|
|
NM_001042492.3(NF1):c.2350T>C (p.Trp784Arg)
|
rs199474730
|
0.00001
|
|
NM_001042492.3(NF1):c.2409+2T>C
|
rs876660826
|
0.00001
|
|
NM_001042492.3(NF1):c.2510G>A (p.Trp837Ter)
|
rs1348129244
|
0.00001
|
|
NM_001042492.3(NF1):c.278G>A (p.Cys93Tyr)
|
rs199474728
|
0.00001
|
|
NM_001042492.3(NF1):c.2850G>C (p.Gln950His)
|
rs863224446
|
0.00001
|
|
NM_001042492.3(NF1):c.288G>T (p.Gly96=)
|
rs1430988476
|
0.00001
|
|
NM_001042492.3(NF1):c.2998C>T (p.Arg1000Cys)
|
rs367684252
|
0.00001
|
|
NM_001042492.3(NF1):c.3395G>A (p.Arg1132His)
|
rs778920556
|
0.00001
|
|
NM_001042492.3(NF1):c.3586C>T (p.Leu1196Phe)
|
rs1555615039
|
0.00001
|
|
NM_001042492.3(NF1):c.3610C>T (p.Arg1204Trp)
|
rs199474732
|
0.00001
|
|
NM_001042492.3(NF1):c.3709-2A>G
|
rs1597722374
|
0.00001
|
|
NM_001042492.3(NF1):c.3827G>A (p.Arg1276Gln)
|
rs137854556
|
0.00001
|
|
NM_001042492.3(NF1):c.4373A>G (p.Glu1458Gly)
|
rs878853894
|
0.00001
|
|
NM_001042492.3(NF1):c.4378C>G (p.His1460Asp)
|
rs377295676
|
0.00001
|
|
NM_001042492.3(NF1):c.4600C>T (p.Arg1534Ter)
|
rs760703505
|
0.00001
|
|
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys)
|
rs797045139
|
0.00001
|
|
NM_001042492.3(NF1):c.5509G>A (p.Asp1837Asn)
|
rs771597781
|
0.00001
|
|
NM_001042492.3(NF1):c.574C>T (p.Arg192Ter)
|
rs397514641
|
0.00001
|
|
NM_001042492.3(NF1):c.5768C>T (p.Thr1923Met)
|
rs786203824
|
0.00001
|
|
NM_001042492.3(NF1):c.5812+332A>G
|
rs863224491
|
0.00001
|
|
NM_001042492.3(NF1):c.6006G>A (p.Gln2002=)
|
rs1555534432
|
0.00001
|
|
NM_001042492.3(NF1):c.6674G>A (p.Trp2225Ter)
|
rs1193716348
|
0.00001
|
|
NM_001042492.3(NF1):c.6704+1G>T
|
rs1060500376
|
0.00001
|
|
NM_001042492.3(NF1):c.6705-2A>G
|
rs2069724442
|
0.00001
|
|
NM_001042492.3(NF1):c.6855C>G (p.Tyr2285Ter)
|
rs772295894
|
0.00001
|
|
GRCh37/hg19 17q11.2(chr17:29422328-29422387)x1
|
|
|
|
GRCh37/hg19 17q11.2(chr17:29490394-29509683)x3
|
|
|
|
GRCh37/hg19 17q11.2(chr17:29679275-29679432)x1
|
|
|
|
GRCh38/hg38 17q11.2(chr17:31206265-31261713)x1
|
|
|
|
GRCh38/hg38 17q11.2(chr17:31223174-31246335)x1
|
|
|
|
NC_000017.10:g.(?_29420318)_29701183del
|
|
|
|
NC_000017.10:g.(?_29422048)_(29527428_?)del
|
|
|
|
NC_000017.10:g.(?_29422055)_(29422407_?)del
|
|
|
|
NC_000017.10:g.(?_29422055)_(29497035_?)del
|
|
|
|
NC_000017.10:g.(?_29422055)_(29533409_?)del
|
|
|
|
NC_000017.10:g.(?_29422055)_(29541613_?)del
|
|
|
|
NC_000017.10:g.(?_29422308)_(29497035_?)del
|
|
|
|
NC_000017.10:g.(?_29422314)_(29548957_?)del
|
|
|
|
NC_000017.10:g.(?_29475515)_(29542762_?)dup
|
|
|
|
NC_000017.10:g.(?_29475515)_(29592377_?)dup
|
|
|
|
NC_000017.10:g.(?_29482981)_(29483164_?)del
|
|
|
|
NC_000017.10:g.(?_29482981)_(29486131_?)del
|
|
|
|
NC_000017.10:g.(?_29482991)_(29577082_?)del
|
|
|
|
NC_000017.10:g.(?_29482991)_(29592377_?)del
|
|
|
|
NC_000017.10:g.(?_29486008)_(29486131_?)del
|
|
|
|
NC_000017.10:g.(?_29486022)_(29533395_?)del
|
|
|
|
NC_000017.10:g.(?_29490184)_(29592377_?)del
|
|
|
|
NC_000017.10:g.(?_29490198)_(29497021_?)del
|
|
|
|
NC_000017.10:g.(?_29508420)_(29592377_?)del
|
|
|
|
NC_000017.10:g.(?_29508430)_(29592367_?)del
|
|
|
|
NC_000017.10:g.(?_29508434)_(29509689_?)del
|
|
|
|
NC_000017.10:g.(?_29527420)_(29527633_?)del
|
|
|
|
NC_000017.10:g.(?_29527428)_(29530107_?)del
|
|
|
|
NC_000017.10:g.(?_29527428)_(29592367_?)del
|
|
|
|
NC_000017.10:g.(?_29528423)_(29528509_?)del
|
|
|
|
NC_000017.10:g.(?_29528523)_(29563921_?)del
|
|
|
|
NC_000017.10:g.(?_29546003)_(29576157_?)del
|
|
|
|
NC_000017.10:g.(?_29548419)_(29557002_?)del
|
|
|
|
NC_000017.10:g.(?_29548858)_(29549489_?)del
|
|
|
|
NC_000017.10:g.(?_29549489)_(29552278_?)del
|
|
|
|
NC_000017.10:g.(?_29552255)_(29555825_?)del
|
|
|
|
NC_000017.10:g.(?_29557258)_(29563059_?)del
|
|
|
|
NC_000017.10:g.(?_29562619)_(29563299_?)del
|
|
|
|
NC_000017.10:g.(?_29585352)_(29585530_?)del
|
|
|
|
NC_000017.10:g.(?_29585352)_(29592367_?)del
|
|
|
|
NC_000017.10:g.(?_29587367)_(29592377_?)dup
|
|
|
|
NC_000017.10:g.(?_29588715)_(29592367_?)del
|
|
|
|
NC_000017.10:g.(?_29592237)_(29592367_?)del
|
|
|
|
NC_000017.10:g.(?_29652818)_(29670173_?)del
|
|
|
|
NC_000017.10:g.(?_29652828)_(29677346_?)del
|
|
|
|
NC_000017.10:g.(?_29653962)_(29657319_?)del
|
|
|
|
NC_000017.10:g.(?_29654511)_(29667669_?)del
|
|
|
|
NC_000017.10:g.(?_29654575)_(29667842_?)del
|
|
|
|
NC_000017.10:g.(?_29663341)_(29679442_?)del
|
|
|
|
NC_000017.10:g.(?_29670017)_(29670163_?)del
|
|
|
|
NC_000017.10:g.(?_29676118)_(29687741_?)del
|
|
|
|
NC_000017.10:g.(?_29676126)_(29677346_?)del
|
|
|
|
NC_000017.10:g.(?_29677191)_(29677346_?)del
|
|
|
|
NC_000017.10:g.(?_29685177)_(29686053_?)del
|
|
|
|
NC_000017.11:(?_31094927)_(31377677_?)del
|
|
|
|
NC_000017.11:g.(31324267_31327162)del
|
|
|
|
NC_000017.11:g.(?_31095030)_(31095379_?)del
|
|
|
|
NC_000017.11:g.(?_31095030)_(31170007_?)del
|
|
|
|
NC_000017.11:g.(?_31095290)_(31095389_?)del
|
|
|
|
NC_000017.11:g.(?_31095290)_(31183409_?)del
|
|
|
|
NC_000017.11:g.(?_31155973)_(31156136_?)del
|
|
|
|
NC_000017.11:g.(?_31155973)_(31265349_?)dup
|
|
|
|
NC_000017.11:g.(?_31160230)_(31163386_?)del
|
|
|
|
NC_000017.11:g.(?_31163186)_(31163376_?)del
|
|
|
|
NC_000017.11:g.(?_31163186)_(31169997_?)del
|
|
|
|
NC_000017.11:g.(?_31169881)_(31183454_?)del
|
|
|
|
NC_000017.11:g.(?_31181402)_(31182685_?)del
|
|
|
|
NC_000017.11:g.(?_31181402)_(31253278_?)del
|
|
|
|
NC_000017.11:g.(?_31181408)_(31183454_?)del
|
|
|
|
NC_000017.11:g.(?_31200402)_(31206391_?)del
|
|
|
|
NC_000017.11:g.(?_31200402)_(31265359_?)del
|
|
|
|
NC_000017.11:g.(?_31200412)_(31206381_?)del
|
|
|
|
NC_000017.11:g.(?_31200412)_(31265349_?)del
|
|
|
|
NC_000017.11:g.(?_31200416)_(31206377_?)del
|
|
|
|
NC_000017.11:g.(?_31200422)_(31265339_?)del
|
|
|
|
NC_000017.11:g.(?_31218985)_(31222471_?)del
|
|
|
|
NC_000017.11:g.(?_31225075)_(31236281_?)del
|
|
|
|
NC_000017.11:g.(?_31229825)_(31265349_?)del
|
|
|
|
NC_000017.11:g.(?_31232063)_(31236281_?)del
|
|
|
|
NC_000017.11:g.(?_31232063)_(31249129_?)del
|
|
|
|
NC_000017.11:g.(?_31248964)_(31265359_?)del
|
|
|
|
NC_000017.11:g.(?_31248974)_(31265349_?)del
|
|
|
|
NC_000017.11:g.(?_31325814)_(31338145_?)del
|
|
|
|
NC_000017.11:g.(?_31327479)_(31327859_?)del
|
|
|
|
NC_000017.11:g.(?_31327499)_(31327839_?)del
|
|
|
|
NC_000017.11:g.(?_31334828)_(31335041_?)del
|
|
|
|
NC_000017.11:g.(?_31334832)_(31335037_?)del
|
|
|
|
NC_000017.11:g.(?_31336323)_(31340655_?)del
|
|
|
|
NC_000017.11:g.(?_31342999)_(31374165_?)del
|
|
|
|
NC_000017.11:g.(?_31343009)_(31343135_?)del
|
|
|
|
NC_000017.11:g.(?_31352247)_(31352424_?)del
|
|
|
|
NC_000017.11:g.31201048_31201049insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTAGAACCTGCTTTTT
|
|
|
|
NC_000017.11:g.31225094GCAG[1]
|
rs2144025582
|
|
|
NC_000017.11:g.31229025del
|
rs2151428776
|
|
|
NC_000017.11:g.31232715_31232716insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGGGCGCTGGGCGTGGGCACACGCTGGAGCATCCAGTGGGGGCTGTGGTACAGGCGTGAGCCACCGCGCCCGGCCGATACTTCACATTATTT
|
|
|
|
NC_000017.11:g.31258344del
|
|
|
|
NC_000017.11:g.[31162374_31182520del;31182521_31250996inv;31250997_31266506del]
|
|
|
|
NF1, 1-BP DEL, 4071C
|
|
|
|
NF1, 80-KB DEL
|
|
|
|
NF1, IVS34, G-A, +18
|
|
|
|
NG_009018.1(NF1):g.[134769_136954del2186;136931_139830del2900]
|
|
|
|
NG_009018.1:g.246621_246622insN[320]
|
|
|
|
NM_000267.3(NF1):c.1260+220_7553-1095del
|
|
|
|
NM_000267.3(NF1):c.129_130ins568 (p.?)
|
|
|
|
NM_000267.3(NF1):c.1393-1905_2251+85dup
|
|
|
|
NM_000267.3(NF1):c.1393-3329_3975-6377del
|
|
|
|
NM_000267.3(NF1):c.1393_1394delAG
|
rs1597698310
|
|
|
NM_000267.3(NF1):c.1527+443_3709-761dup
|
|
|
|
NM_000267.3(NF1):c.1641+156_3975-2222del
|
|
|
|
NM_000267.3(NF1):c.1845+537_4661+331del
|
|
|
|
NM_000267.3(NF1):c.1846-613_4773-1009delinsTTAGGTTTAT
|
|
|
|
NM_000267.3(NF1):c.204+155_2990+53del
|
|
|
|
NM_000267.3(NF1):c.206_207delGA
|
rs1060500321
|
|
|
NM_000267.3(NF1):c.2252delG
|
rs1597713259
|
|
|
NM_000267.3(NF1):c.3047_3048insSVAelement
|
rs2067091515
|
|
|
NM_000267.3(NF1):c.3199_3200delGA
|
|
|
|
NM_000267.3(NF1):c.3496+57_4772+2639dup
|
|
|
|
NM_000267.3(NF1):c.3497delG
|
rs1567851231
|
|
|
NM_000267.3(NF1):c.3708+598_4772+16224del
|
|
|
|
NM_000267.3(NF1):c.3709-266_7259-397delinsCAG
|
|
|
|
NM_000267.3(NF1):c.4368-391_4515-122delins105
|
|
|
|
NM_000267.3(NF1):c.4368-?_5943+?del
|
|
|
|
NM_000267.3(NF1):c.4515-343_8314+3380del
|
|
|
|
NM_000267.3(NF1):c.4516del
|
rs2067689357
|
|
|
NM_000267.3(NF1):c.4661+1660_4773-8837del
|
|
|
|
NM_000267.3(NF1):c.4662-1076_4772+1300delins260
|
|
|
|
NM_000267.3(NF1):c.4773-2116_7127-1817delinsAGTTACC
|
|
|
|
NM_000267.3(NF1):c.4773-23713_7907+14del
|
|
|
|
NM_000267.3(NF1):c.480-134_8315-6206del
|
|
|
|
NM_000267.3(NF1):c.480delG
|
rs1597643722
|
|
|
NM_000267.3(NF1):c.4941_7127-2901del
|
|
|
|
NM_000267.3(NF1):c.5206delG
|
rs1555533549
|
|
|
NM_000267.3(NF1):c.5749+189_6999+1035del
|
|
|
|
NM_000267.3(NF1):c.5749+6_6858+633delins130
|
|
|
|
NM_000267.3(NF1):c.586+1209_1845+35del
|
|
|
|
NM_000267.3(NF1):c.587-282_8315-3687del
|
|
|
|
NM_000267.3(NF1):c.5943+265_7000-999delins15
|
|
|
|
NM_000267.3(NF1):c.5943+448_7127-414del
|
|
|
|
NM_000267.3(NF1):c.60+24136_587-5022del
|
|
|
|
NM_000267.3(NF1):c.60+3120_3975-326del
|
|
|
|
NM_000267.3(NF1):c.6085del
|
|
|
|
NM_000267.3(NF1):c.6756+2_6763del
|
rs1597845213
|
|
|
NM_000267.3(NF1):c.6791dup (p.Tyr2264Ter)
|
rs876657715
|
|
|
NM_000267.3(NF1):c.7128delG
|
rs1597858338
|
|
|
NM_000267.3(NF1):c.731-302_8314+3681del
|
|
|
|
NM_000267.3(NF1):c.7884_8315-5528del
|
|
|
|
NM_000267.3(NF1):c.7901_7902ins11 (p.?)
|
|
|
|
NM_000267.3(NF1):c.888+3798_5750-2053del
|
|
|
|
NM_000267.3(NF1):c.888+5515_1261-1635del
|
|
|
|
NM_000267.3(NF1):c.888+8334_1721+34delinsTC
|
|
|
|
NM_000267.3(NF1):c.889-1633_7395-667del
|
|
|
|
NM_000267.3(NF1):c.889-8107_1261-278del
|
|
|
|
NM_000267.3(NF1):c.889-8381_6757-5del
|
|
|
|
NM_000267.3:c.(3708_+1_3709-1)_(3974+1_3975-1)del
|
|
|
|
NM_000267.3:c.(?_-383)_(60+1_61-1)del
|
|
|
|
NM_000267.3:c.1491_4110+4407del
|
|
|
|
NM_000267.3:c.3975-1046_4110+902deins333
|
|
|
|
NM_000267.3:c.3975-364_4515-510indel810
|
|
|
|
NM_000267.3:c.5547-961+5943+244del
|
|
|
|
NM_000267.3:c.5845_5846insALU
|
|
|
|
NM_000267.3:c.7566_8314+3321_delinsCGCCACGGC
|
|
|
|
NM_001042492.2(NF1):c.[6708delT;6710C>G]
|
|
|
|
NM_001042492.3(NF1):c.1002del (p.Asn335fs)
|
rs2143873673
|
|
|
NM_001042492.3(NF1):c.1003_1006del (p.Asn335fs)
|
rs2143873710
|
|
|
NM_001042492.3(NF1):c.1007G>A (p.Trp336Ter)
|
rs2066508712
|
|
|
NM_001042492.3(NF1):c.1008G>A (p.Trp336Ter)
|
rs2143873786
|
|
|
NM_001042492.3(NF1):c.1008_1009delinsAA (p.Trp336_Glu337delinsTer)
|
rs2143873811
|
|
|
NM_001042492.3(NF1):c.1009G>T (p.Glu337Ter)
|
rs747241884
|
|
|
NM_001042492.3(NF1):c.1012G>A (p.Asp338Asn)
|
|
|
|
NM_001042492.3(NF1):c.1013A>G (p.Asp338Gly)
|
rs199474773
|
|
|
NM_001042492.3(NF1):c.1014del (p.Asp338fs)
|
|
|
|
NM_001042492.3(NF1):c.1019_1020del (p.Ser340fs)
|
rs1555610903
|
|
|
NM_001042492.3(NF1):c.1019_1020insGA (p.Val341fs)
|
|
|
|
NM_001042492.3(NF1):c.1020dup (p.Val341fs)
|
rs1555610905
|
|
|
NM_001042492.3(NF1):c.1021_1022del (p.Val341fs)
|
rs2066509100
|
|
|
NM_001042492.3(NF1):c.1022_1023insGA (p.Ile342fs)
|
rs2143874087
|
|
|
NM_001042492.3(NF1):c.1023_1024del (p.Ile342fs)
|
rs2143874127
|
|
|
NM_001042492.3(NF1):c.1023_1024insGACA (p.Ile342fs)
|
rs2143874147
|
|
|
NM_001042492.3(NF1):c.1023dup (p.Ile342fs)
|
rs2143874110
|
|
|
NM_001042492.3(NF1):c.1028_1031del (p.Phe343fs)
|
|
|
|
NM_001042492.3(NF1):c.1030del (p.Leu344fs)
|
rs2143874232
|
|
|
NM_001042492.3(NF1):c.1034_1035insGTTTTCCTACT (p.Val346fs)
|
rs2066509240
|
|
|
NM_001042492.3(NF1):c.1036del (p.Val346fs)
|
rs2066509487
|
|
|
NM_001042492.3(NF1):c.1036dup (p.Val346fs)
|
|
|
|
NM_001042492.3(NF1):c.1039C>T (p.Gln347Ter)
|
rs1555610910
|
|
|
NM_001042492.3(NF1):c.1041_1045del (p.Gln347fs)
|
rs1135402800
|
|
|
NM_001042492.3(NF1):c.1054del (p.Asp352fs)
|
rs2143874573
|
|
|
NM_001042492.3(NF1):c.1059del (p.Lys354fs)
|
rs863224488
|
|
|
NM_001042492.3(NF1):c.1060_1061del (p.Lys354fs)
|
|
|
|
NM_001042492.3(NF1):c.1062+1G>A
|
rs1597681200
|
|
|
NM_001042492.3(NF1):c.1062+1G>T
|
rs1597681200
|
|
|
NM_001042492.3(NF1):c.1062+1del
|
|
|
|
NM_001042492.3(NF1):c.1062+2T>A
|
|
|
|
NM_001042492.3(NF1):c.1062+2T>C
|
rs2066510391
|
|
|
NM_001042492.3(NF1):c.1062+2T>G
|
rs2066510391
|
|
|
NM_001042492.3(NF1):c.1062+2del
|
rs2066510443
|
|
|
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.1062G>T (p.Lys354Asn)
|
rs1131691118
|
|
|
NM_001042492.3(NF1):c.1063-13G>A
|
rs1131691066
|
|
|
NM_001042492.3(NF1):c.1063-14T>A
|
rs538708444
|
|
|
NM_001042492.3(NF1):c.1063-1G>A
|
rs1555610955
|
|
|
NM_001042492.3(NF1):c.1063-1G>C
|
rs1555610955
|
|
|
NM_001042492.3(NF1):c.1063-1G>T
|
rs1555610955
|
|
|
NM_001042492.3(NF1):c.1063-1del
|
|
|
|
NM_001042492.3(NF1):c.1063-2A>C
|
|
|
|
NM_001042492.3(NF1):c.1063-2A>G
|
rs1060500358
|
|
|
NM_001042492.3(NF1):c.1063-3T>G
|
rs758206740
|
|
|
NM_001042492.3(NF1):c.1066del (p.Leu356fs)
|
rs1597681864
|
|
|
NM_001042492.3(NF1):c.1067del (p.Leu356fs)
|
rs2143878420
|
|
|
NM_001042492.3(NF1):c.1070T>C (p.Leu357Pro)
|
rs137854563
|
|
|
NM_001042492.3(NF1):c.1075_1096del (p.Asn359fs)
|
|
|
|
NM_001042492.3(NF1):c.1079dup (p.Ser361fs)
|
rs2143878590
|
|
|
NM_001042492.3(NF1):c.1080_1081del (p.Pro360_Ser361insTer)
|
|
|
|
NM_001042492.3(NF1):c.1081del (p.Ser361fs)
|
|
|
|
NM_001042492.3(NF1):c.1084A>T (p.Lys362Ter)
|
|
|
|
NM_001042492.3(NF1):c.1091del (p.Phe364fs)
|
rs2066519253
|
|
|
NM_001042492.3(NF1):c.1094C>A (p.Ser365Ter)
|
rs864622107
|
|
|
NM_001042492.3(NF1):c.1094C>G (p.Ser365Ter)
|
rs864622107
|
|
|
NM_001042492.3(NF1):c.1095_1096del (p.Gly367fs)
|
rs1597681960
|
|
|
NM_001042492.3(NF1):c.1096dup (p.Arg366fs)
|
rs2143878810
|
|
|
NM_001042492.3(NF1):c.1097dup (p.Gly367fs)
|
rs2066519416
|
|
|
NM_001042492.3(NF1):c.1099_1115dup (p.Asp372fs)
|
rs2143878832
|
|
|
NM_001042492.3(NF1):c.109G>T (p.Glu37Ter)
|
rs2143625963
|
|
|
NM_001042492.3(NF1):c.109del (p.Glu37fs)
|
|
|
|
NM_001042492.3(NF1):c.1101del (p.Ser368fs)
|
rs2143878939
|
|
|
NM_001042492.3(NF1):c.1102del (p.Ser368fs)
|
rs2143878968
|
|
|
NM_001042492.3(NF1):c.1103del (p.Ser368fs)
|
|
|
|
NM_001042492.3(NF1):c.1103dup (p.Ser368fs)
|
rs2066519656
|
|
|
NM_001042492.3(NF1):c.1104_1107del (p.Gln369fs)
|
rs1555610984
|
|
|
NM_001042492.3(NF1):c.1105C>T (p.Gln369Ter)
|
|
|
|
NM_001042492.3(NF1):c.1109dup (p.Ala371fs)
|
|
|
|
NM_001042492.3(NF1):c.1110del (p.Ala371fs)
|
rs2066519817
|
|
|
NM_001042492.3(NF1):c.1116del (p.Asp372fs)
|
rs2143879304
|
|
|
NM_001042492.3(NF1):c.1120del (p.Asp374fs)
|
|
|
|
NM_001042492.3(NF1):c.1121_1122del (p.Asp374fs)
|
rs1597682030
|
|
|
NM_001042492.3(NF1):c.1123_1124del (p.Leu375fs)
|
|
|
|
NM_001042492.3(NF1):c.1126del (p.Leu375_Met376insTer)
|
|
|
|
NM_001042492.3(NF1):c.1128dup (p.Ile377fs)
|
|
|
|
NM_001042492.3(NF1):c.1130_1133del (p.Ile377fs)
|
rs2143879547
|
|
|
NM_001042492.3(NF1):c.1131del (p.Ile377fs)
|
|
|
|
NM_001042492.3(NF1):c.1131dup (p.Asp378Ter)
|
|
|
|
NM_001042492.3(NF1):c.1132del (p.Asp378fs)
|
rs2143879675
|
|
|
NM_001042492.3(NF1):c.1133_1134insATGA (p.Asp378delinsGluTer)
|
rs2143879651
|
|
|
NM_001042492.3(NF1):c.1133_1136del (p.Asp378fs)
|
rs2143879667
|
|
|
NM_001042492.3(NF1):c.1135T>C (p.Cys379Arg)
|
rs1060500281
|
|
|
NM_001042492.3(NF1):c.1139T>C (p.Leu380Pro)
|
rs1555611004
|
|
|
NM_001042492.3(NF1):c.1139T>G (p.Leu380Arg)
|
rs1555611004
|
|
|
NM_001042492.3(NF1):c.1140del (p.Val381fs)
|
|
|
|
NM_001042492.3(NF1):c.1143_1144del (p.Ser382fs)
|
rs1135402802
|
|
|
NM_001042492.3(NF1):c.1145_1146del (p.Ser382fs)
|
|
|
|
NM_001042492.3(NF1):c.1149del (p.Arg385fs)
|
|
|
|
NM_001042492.3(NF1):c.1152del (p.Arg385fs)
|
rs1135402803
|
|
|
NM_001042492.3(NF1):c.1152dup (p.Arg385fs)
|
|
|
|
NM_001042492.3(NF1):c.1153del (p.Arg385fs)
|
rs2066520848
|
|
|
NM_001042492.3(NF1):c.1156dup (p.Ile386fs)
|
|
|
|
NM_001042492.3(NF1):c.1157_1178dup (p.Phe394fs)
|
|
|
|
NM_001042492.3(NF1):c.1163del (p.Pro388fs)
|
|
|
|
NM_001042492.3(NF1):c.116del (p.Asn39fs)
|
|
|
|
NM_001042492.3(NF1):c.1174C>T (p.Gln392Ter)
|
rs1597682137
|
|
|
NM_001042492.3(NF1):c.1175_1179del (p.Gln392fs)
|
|
|
|
NM_001042492.3(NF1):c.1178del (p.His393fs)
|
rs1555611037
|
|
|
NM_001042492.3(NF1):c.1179del (p.Phe394fs)
|
rs2143880536
|
|
|
NM_001042492.3(NF1):c.1181_1182del (p.His393_Phe394insTer)
|
|
|
|
NM_001042492.3(NF1):c.1182del (p.Phe394fs)
|
|
|
|
NM_001042492.3(NF1):c.1182dup (p.Lys395Ter)
|
rs1597682159
|
|
|
NM_001042492.3(NF1):c.1183_1185+2del
|
rs1555611039
|
|
|
NM_001042492.3(NF1):c.1184del (p.Lys395fs)
|
|
|
|
NM_001042492.3(NF1):c.1185+1G>A
|
rs864622161
|
|
|
NM_001042492.3(NF1):c.1185+1G>C
|
|
|
|
NM_001042492.3(NF1):c.1185+1G>T
|
rs864622161
|
|
|
NM_001042492.3(NF1):c.1185+1_1185+5del
|
rs2143880646
|
|
|
NM_001042492.3(NF1):c.1185+2T>A
|
|
|
|
NM_001042492.3(NF1):c.1185+2T>C
|
rs1555611043
|
|
|
NM_001042492.3(NF1):c.1185+2T>G
|
rs1555611043
|
|
|
NM_001042492.3(NF1):c.1185+5G>C
|
rs1597682182
|
|
|
NM_001042492.3(NF1):c.1185G>T (p.Lys395Asn)
|
|
|
|
NM_001042492.3(NF1):c.1186-1G>A
|
rs876660782
|
|
|
NM_001042492.3(NF1):c.1186-1G>C
|
rs876660782
|
|
|
NM_001042492.3(NF1):c.1186-1G>T
|
rs876660782
|
|
|
NM_001042492.3(NF1):c.1186-2A>G
|
rs1373365576
|
|
|
NM_001042492.3(NF1):c.1190del (p.Cys397fs)
|
rs2143885612
|
|
|
NM_001042492.3(NF1):c.1192del (p.Leu398fs)
|
rs2066527734
|
|
|
NM_001042492.3(NF1):c.1198C>T (p.Gln400Ter)
|
rs1597682751
|
|
|
NM_001042492.3(NF1):c.1205C>A (p.Ser402Ter)
|
|
|
|
NM_001042492.3(NF1):c.1211del (p.Ser404fs)
|
|
|
|
NM_001042492.3(NF1):c.1212_1213insCGAA (p.Thr405fs)
|
rs2143886056
|
|
|
NM_001042492.3(NF1):c.1212dup (p.Thr405fs)
|
|
|
|
NM_001042492.3(NF1):c.1215_1221dup (p.Tyr408fs)
|
|
|
|
NM_001042492.3(NF1):c.1218del (p.His407fs)
|
rs1131691106
|
|
|
NM_001042492.3(NF1):c.121G>T (p.Glu41Ter)
|
rs1567814497
|
|
|
NM_001042492.3(NF1):c.1222dup (p.Tyr408fs)
|
|
|
|
NM_001042492.3(NF1):c.1224T>A (p.Tyr408Ter)
|
rs1555611089
|
|
|
NM_001042492.3(NF1):c.1224T>G (p.Tyr408Ter)
|
rs1555611089
|
|
|
NM_001042492.3(NF1):c.1235del (p.Asn412fs)
|
rs2143886422
|
|
|
NM_001042492.3(NF1):c.1235dup (p.Asn412fs)
|
|
|
|
NM_001042492.3(NF1):c.1237T>C (p.Ser413Pro)
|
rs1555611093
|
|
|
NM_001042492.3(NF1):c.1237del (p.Ser413fs)
|
rs2143886507
|
|
|
NM_001042492.3(NF1):c.1238C>A (p.Ser413Ter)
|
rs1241533665
|
|
|
NM_001042492.3(NF1):c.1238C>G (p.Ser413Ter)
|
rs1241533665
|
|
|
NM_001042492.3(NF1):c.123dup (p.Cys42fs)
|
|
|
|
NM_001042492.3(NF1):c.1243del (p.His415fs)
|
|
|
|
NM_001042492.3(NF1):c.1243dup (p.His415fs)
|
rs1085307728
|
|
|
NM_001042492.3(NF1):c.1246C>T (p.Arg416Ter)
|
rs764079291
|
|
|
NM_001042492.3(NF1):c.1246del (p.Arg416fs)
|
rs2143886751
|
|
|
NM_001042492.3(NF1):c.1250_1251insTT (p.Ile418fs)
|
rs2143886864
|
|
|
NM_001042492.3(NF1):c.1250dup (p.Ile418fs)
|
|
|
|
NM_001042492.3(NF1):c.1253del (p.Ile418fs)
|
rs2143886904
|
|
|
NM_001042492.3(NF1):c.1255del (p.Thr419fs)
|
rs1555611105
|
|
|
NM_001042492.3(NF1):c.1257del (p.Asn420fs)
|
rs2143887003
|
|
|
NM_001042492.3(NF1):c.125_126dup (p.Leu43fs)
|
rs1555604897
|
|
|
NM_001042492.3(NF1):c.1260+1604A>G
|
rs1131691067
|
|
|
NM_001042492.3(NF1):c.1260+1G>C
|
rs267606603
|
|
|
NM_001042492.3(NF1):c.1260+1G>T
|
rs267606603
|
|
|
NM_001042492.3(NF1):c.1260+2T>C
|
rs1555611110
|
|
|
NM_001042492.3(NF1):c.1260+2T>G
|
rs1555611110
|
|
|
NM_001042492.3(NF1):c.1260+2dup
|
rs1597682922
|
|
|
NM_001042492.3(NF1):c.1260+3A>C
|
rs2066529461
|
|
|
NM_001042492.3(NF1):c.1260+5G>A
|
rs1060500253
|
|
|
NM_001042492.3(NF1):c.1261-13T>A
|
rs1597688674
|
|
|
NM_001042492.3(NF1):c.1261-165_1302del
|
|
|
|
NM_001042492.3(NF1):c.1261-19G>A
|
rs1597688663
|
|
|
NM_001042492.3(NF1):c.1261-1G>C
|
|
|
|
NM_001042492.3(NF1):c.1261-1G>T
|
rs2066618707
|
|
|
NM_001042492.3(NF1):c.1261-21T>G
|
rs1597688656
|
|
|
NM_001042492.3(NF1):c.1261-2A>G
|
rs2066618684
|
|
|
NM_001042492.3(NF1):c.1261-2A>T
|
rs2066618684
|
|
|
NM_001042492.3(NF1):c.1261_1268delinsCCC (p.Ser421fs)
|
rs2066618784
|
|
|
NM_001042492.3(NF1):c.126T>A (p.Cys42Ter)
|
|
|
|
NM_001042492.3(NF1):c.1274G>A (p.Trp425Ter)
|
|
|
|
NM_001042492.3(NF1):c.1275G>A (p.Trp425Ter)
|
rs2066619128
|
|
|
NM_001042492.3(NF1):c.1275del (p.Trp425fs)
|
|
|
|
NM_001042492.3(NF1):c.1277G>A (p.Trp426Ter)
|
|
|
|
NM_001042492.3(NF1):c.1278G>A (p.Trp426Ter)
|
rs1131691085
|
|
|
NM_001042492.3(NF1):c.1280_1292del (p.Pro427fs)
|
rs1135402804
|
|
|
NM_001042492.3(NF1):c.128T>C (p.Leu43Pro)
|
rs1555604899
|
|
|
NM_001042492.3(NF1):c.1291dup (p.Ala431fs)
|
rs2143913948
|
|
|
NM_001042492.3(NF1):c.1296_1297dup (p.Tyr433fs)
|
rs2066619428
|
|
|
NM_001042492.3(NF1):c.1296delinsATA (p.Cys434fs)
|
rs1772820423
|
|
|
NM_001042492.3(NF1):c.1298_1302del (p.Tyr433fs)
|
|
|
|
NM_001042492.3(NF1):c.1299T>A (p.Tyr433Ter)
|
rs876660099
|
|
|
NM_001042492.3(NF1):c.1299T>G (p.Tyr433Ter)
|
rs876660099
|
|
|
NM_001042492.3(NF1):c.1299_1314dup (p.Leu439_Arg440insSerLeuGlyTer)
|
|
|
|
NM_001042492.3(NF1):c.129_130insGGGAATACATTATTATGTAAACTTAATTTTAAAAGACAGGAGAAAATCTGTTTTCTGCTGACCAAAGAAGTGACTTATTGATACAAAAGGAACACTAAAGTACAAAAATACCCACTGTCAATAATATGATACAGAGTTAGCAAACCATATACATGATCTCCATGTGGTTATGAATGTAATAGTTGTAAGTGGGTGAGTATTAATACACATTATTTTACGGTTGCAAGTTCACTAGGATCAATTAATCTAATGCAATGGTCAACAATATGACTTCATATGTTAATTGCCTGGGTTTACTATGGGATGATACTGCCAGAAAAGGCTTATGAGACAAGAAAATTACTTCGTGGGATAGCATTTGGTAACTTCCACTGAGAAGTAGAAATTATCTGATTTGTTAGCAAAGAAGGCTAGTGACAACGTACCTCCTGTCGGGCTGGTGCTGCATGTGGCCAGTCTCCTCTGGACAATCCTGTAACATGGGCTGGAGTTCTTCCTGTGGGGAGGGAGTCAGAGTGGCAGTGGACTGATGGCTATAGGACACGGCAGCTGGAGAAGAAGCTGTCTA (p.Ile44delinsGlyAsnThrLeuLeuCysLysLeuAsnPheLysArgGlnGluLysIleCysPheLeuLeuThrLysGluValThrTyrTer)
|
rs2143626219
|
|
|
NM_001042492.3(NF1):c.1302T>A (p.Cys434Ter)
|
rs1555611570
|
|
|
NM_001042492.3(NF1):c.1307_1316del (p.Ser436fs)
|
rs1597688786
|
|
|
NM_001042492.3(NF1):c.1309del (p.Val437fs)
|
|
|
|
NM_001042492.3(NF1):c.1312G>T (p.Glu438Ter)
|
|
|
|
NM_001042492.3(NF1):c.1316T>C (p.Leu439Pro)
|
rs2143914353
|
|
|
NM_001042492.3(NF1):c.1324_1325del (p.Met442fs)
|
rs1135402805
|
|
|
NM_001042492.3(NF1):c.1324dup (p.Met442fs)
|
|
|
|
NM_001042492.3(NF1):c.1329_1330insAAAA (p.Gly444fs)
|
|
|
|
NM_001042492.3(NF1):c.1329dup (p.Gly444fs)
|
|
|
|
NM_001042492.3(NF1):c.132_135del (p.Asn45fs)
|
|
|
|
NM_001042492.3(NF1):c.132dup (p.Asn45fs)
|
|
|
|
NM_001042492.3(NF1):c.1331del (p.Gly444fs)
|
rs1567838293
|
|
|
NM_001042492.3(NF1):c.1333_1334insTTTATGTTTGGTG (p.Glu445delinsValTyrValTrpTer)
|
|
|
|
NM_001042492.3(NF1):c.1339del (p.Leu447fs)
|
rs2143914685
|
|
|
NM_001042492.3(NF1):c.1340T>C (p.Leu447Pro)
|
rs1597688896
|
|
|
NM_001042492.3(NF1):c.1341_1342del (p.Leu447_His448insTer)
|
rs2143914721
|
|
|
NM_001042492.3(NF1):c.1343dup (p.His448fs)
|
rs1555611584
|
|
|
NM_001042492.3(NF1):c.1344dup (p.Lys449Ter)
|
rs1567838311
|
|
|
NM_001042492.3(NF1):c.1345_1346insGA (p.Lys449fs)
|
rs2143914781
|
|
|
NM_001042492.3(NF1):c.1346_1347del (p.Lys449fs)
|
rs2066621144
|
|
|
NM_001042492.3(NF1):c.1346_1347dup (p.Ala450fs)
|
rs2066621144
|
|
|
NM_001042492.3(NF1):c.1347del (p.Ala450fs)
|
|
|
|
NM_001042492.3(NF1):c.1348_1349dup (p.Val451fs)
|
rs2066621213
|
|
|
NM_001042492.3(NF1):c.1354C>T (p.Gln452Ter)
|
rs1555611590
|
|
|
NM_001042492.3(NF1):c.1356dup (p.Gly453fs)
|
rs2143914954
|
|
|
NM_001042492.3(NF1):c.1358del (p.Gly453fs)
|
rs2143914991
|
|
|
NM_001042492.3(NF1):c.1362T>A (p.Cys454Ter)
|
rs2066621671
|
|
|
NM_001042492.3(NF1):c.1362_1364del (p.Cys454_Gly455delinsTer)
|
rs2143915068
|
|
|
NM_001042492.3(NF1):c.1372_1373delinsG (p.Pro458fs)
|
rs2066622088
|
|
|
NM_001042492.3(NF1):c.1373del (p.Pro458fs)
|
rs2143915236
|
|
|
NM_001042492.3(NF1):c.1374dup (p.Ala459fs)
|
rs1135402806
|
|
|
NM_001042492.3(NF1):c.1381C>T (p.Arg461Ter)
|
rs878853865
|
|
|
NM_001042492.3(NF1):c.1384del (p.Met462fs)
|
|
|
|
NM_001042492.3(NF1):c.1392+1G>A
|
rs267604791
|
|
|
NM_001042492.3(NF1):c.1392+1G>C
|
rs267604791
|
|
|
NM_001042492.3(NF1):c.1392+1del
|
rs1060500347
|
|
|
NM_001042492.3(NF1):c.1392+2T>C
|
rs1555611610
|
|
|
NM_001042492.3(NF1):c.1392+2del
|
rs1597689068
|
|
|
NM_001042492.3(NF1):c.1393-1G>A
|
rs1131691131
|
|
|
NM_001042492.3(NF1):c.1393-1G>C
|
rs1131691131
|
|
|
NM_001042492.3(NF1):c.1393-1G>T
|
rs1131691131
|
|
|
NM_001042492.3(NF1):c.1393-2488_1642-648delinsAATAG
|
|
|
|
NM_001042492.3(NF1):c.1393-2652_1528-892del
|
|
|
|
NM_001042492.3(NF1):c.1393-2A>G
|
rs1555612266
|
|
|
NM_001042492.3(NF1):c.1393-2A>T
|
rs1555612266
|
|
|
NM_001042492.3(NF1):c.1394del (p.Ser465fs)
|
rs2066785267
|
|
|
NM_001042492.3(NF1):c.1398dup (p.Thr467fs)
|
|
|
|
NM_001042492.3(NF1):c.1399_1400insAA (p.Thr467fs)
|
rs778963145
|
|
|
NM_001042492.3(NF1):c.1399dup (p.Thr467fs)
|
rs778963145
|
|
|
NM_001042492.3(NF1):c.139T>C (p.Ser47Pro)
|
rs2143626487
|
|
|
NM_001042492.3(NF1):c.1400_1415del (p.Thr467fs)
|
rs1555612270
|
|
|
NM_001042492.3(NF1):c.1400del (p.Thr467fs)
|
rs1135402808
|
|
|
NM_001042492.3(NF1):c.1404del (p.Phe468fs)
|
|
|
|
NM_001042492.3(NF1):c.1408G>T (p.Glu470Ter)
|
rs1597698330
|
|
|
NM_001042492.3(NF1):c.1413del (p.Lys471_Val472insTer)
|
rs746149047
|
|
|
NM_001042492.3(NF1):c.1414del (p.Lys471_Val472insTer)
|
rs2066785835
|
|
|
NM_001042492.3(NF1):c.1415dup (p.Thr473fs)
|
|
|
|
NM_001042492.3(NF1):c.1422_1423dup (p.Leu475fs)
|
|
|
|
NM_001042492.3(NF1):c.1423del (p.Lys476fs)
|
|
|
|
NM_001042492.3(NF1):c.1423dup (p.Leu475fs)
|
rs1555612274
|
|
|
NM_001042492.3(NF1):c.1425del (p.Lys476fs)
|
|
|
|
NM_001042492.3(NF1):c.1426A>G (p.Lys476Glu)
|
rs2066785949
|
|
|
NM_001042492.3(NF1):c.1426_1430del (p.Leu475_Lys476insTer)
|
|
|
|
NM_001042492.3(NF1):c.1428del (p.Lys476fs)
|
|
|
|
NM_001042492.3(NF1):c.1435_1438del (p.Glu479fs)
|
|
|
|
NM_001042492.3(NF1):c.1438A>T (p.Lys480Ter)
|
rs2143959211
|
|
|
NM_001042492.3(NF1):c.1439_1442del (p.Lys480fs)
|
rs2143959220
|
|
|
NM_001042492.3(NF1):c.1440del (p.Lys480fs)
|
rs2066786100
|
|
|
NM_001042492.3(NF1):c.1442del (p.Pro481fs)
|
|
|
|
NM_001042492.3(NF1):c.144del (p.Lys48fs)
|
|
|
|
NM_001042492.3(NF1):c.1450del (p.Leu484fs)
|
rs2143959373
|
|
|
NM_001042492.3(NF1):c.1453G>T (p.Glu485Ter)
|
rs1131691610
|
|
|
NM_001042492.3(NF1):c.1455_1456del (p.Glu485fs)
|
rs2143959428
|
|
|
NM_001042492.3(NF1):c.1457del (p.Thr486fs)
|
|
|
|
NM_001042492.3(NF1):c.1462del (p.Ser488fs)
|
rs1135402810
|
|
|
NM_001042492.3(NF1):c.1465dup (p.Tyr489fs)
|
rs2143959602
|
|
|
NM_001042492.3(NF1):c.1467T>A (p.Tyr489Ter)
|
rs1567841799
|
|
|
NM_001042492.3(NF1):c.1467T>G (p.Tyr489Ter)
|
|
|
|
NM_001042492.3(NF1):c.1467_1468dup (p.Lys490fs)
|
|
|
|
NM_001042492.3(NF1):c.1467dup (p.Lys490Ter)
|
|
|
|
NM_001042492.3(NF1):c.1469_1470insTTAT (p.Lys490fs)
|
rs1060500307
|
|
|
NM_001042492.3(NF1):c.1469_1472del (p.Lys490fs)
|
rs1135402811
|
|
|
NM_001042492.3(NF1):c.1469del (p.Lys490fs)
|
|
|
|
NM_001042492.3(NF1):c.146dup (p.Tyr49Ter)
|
|
|
|
NM_001042492.3(NF1):c.1473T>A (p.Tyr491Ter)
|
|
|
|
NM_001042492.3(NF1):c.1477_1481del (p.Leu493fs)
|
rs2066787009
|
|
|
NM_001042492.3(NF1):c.1477_1525dup (p.Cys509fs)
|
rs2143959812
|
|
|
NM_001042492.3(NF1):c.147C>A (p.Tyr49Ter)
|
|
|
|
NM_001042492.3(NF1):c.147C>G (p.Tyr49Ter)
|
rs1597626026
|
|
|
NM_001042492.3(NF1):c.147del (p.Lys48_Tyr49insTer)
|
rs1597626031
|
|
|
NM_001042492.3(NF1):c.1481T>A (p.Leu494Ter)
|
rs2143959905
|
|
|
NM_001042492.3(NF1):c.1481del (p.Leu494fs)
|
|
|
|
NM_001042492.3(NF1):c.1485_1488dup (p.Val497fs)
|
|
|
|
NM_001042492.3(NF1):c.148A>T (p.Lys50Ter)
|
|
|
|
NM_001042492.3(NF1):c.1494del (p.Lys498fs)
|
rs2143960130
|
|
|
NM_001042492.3(NF1):c.1495del (p.Lys498_Leu499insTer)
|
|
|
|
NM_001042492.3(NF1):c.1496T>C (p.Leu499Pro)
|
rs1555612288
|
|
|
NM_001042492.3(NF1):c.1496T>G (p.Leu499Arg)
|
rs1555612288
|
|
|
NM_001042492.3(NF1):c.1496_1501del (p.Leu499_Ile500del)
|
|
|
|
NM_001042492.3(NF1):c.1496dup (p.Ile500fs)
|
|
|
|
NM_001042492.3(NF1):c.1498_1499del (p.Ile500fs)
|
rs2143960248
|
|
|
NM_001042492.3(NF1):c.1498dup (p.Ile500fs)
|
|
|
|
NM_001042492.3(NF1):c.1500_1501del (p.His501fs)
|
rs2143960301
|
|
|
NM_001042492.3(NF1):c.1511del (p.Pro504fs)
|
rs2143960519
|
|
|
NM_001042492.3(NF1):c.1514del (p.Lys505fs)
|
rs1555612289
|
|
|
NM_001042492.3(NF1):c.1514dup (p.Leu506fs)
|
rs1555612289
|
|
|
NM_001042492.3(NF1):c.1518dup (p.Leu508fs)
|
rs2143960631
|
|
|
NM_001042492.3(NF1):c.1522del (p.Leu508fs)
|
rs1952238027
|
|
|
NM_001042492.3(NF1):c.1523T>C (p.Leu508Pro)
|
rs137854558
|
|
|
NM_001042492.3(NF1):c.1524_1525dup (p.Cys509fs)
|
|
|
|
NM_001042492.3(NF1):c.1525del (p.Cys509fs)
|
rs1135402813
|
|
|
NM_001042492.3(NF1):c.1525dup (p.Cys509fs)
|
rs1135402813
|
|
|
NM_001042492.3(NF1):c.1526_1527+2del
|
rs2143960778
|
|
|
NM_001042492.3(NF1):c.1527+1159C>T
|
rs878853868
|
|
|
NM_001042492.3(NF1):c.1527+1509_1641+1137del
|
|
|
|
NM_001042492.3(NF1):c.1527+1G>A
|
rs1060500331
|
|
|
NM_001042492.3(NF1):c.1527+1G>C
|
rs1060500331
|
|
|
NM_001042492.3(NF1):c.1527+1G>T
|
rs1060500331
|
|
|
NM_001042492.3(NF1):c.1527+1del
|
rs2143960866
|
|
|
NM_001042492.3(NF1):c.1527+2T>C
|
rs1064796700
|
|
|
NM_001042492.3(NF1):c.1527+2T>G
|
rs1064796700
|
|
|
NM_001042492.3(NF1):c.1527+2dup
|
rs1597698533
|
|
|
NM_001042492.3(NF1):c.1527+4_1527+7del
|
rs1555612294
|
|
|
NM_001042492.3(NF1):c.1527+5G>A
|
rs1060500352
|
|
|
NM_001042492.3(NF1):c.1528-960_1761del
|
|
|
|
NM_001042492.3(NF1):c.1530dup (p.Pro511fs)
|
|
|
|
NM_001042492.3(NF1):c.1532del (p.Pro511fs)
|
rs1597703352
|
|
|
NM_001042492.3(NF1):c.1539dup (p.Gln514fs)
|
|
|
|
NM_001042492.3(NF1):c.1540C>T (p.Gln514Ter)
|
rs1316926587
|
|
|
NM_001042492.3(NF1):c.1540del (p.Gln514fs)
|
|
|
|
NM_001042492.3(NF1):c.1541del (p.Gln514fs)
|
rs1555612815
|
|
|
NM_001042492.3(NF1):c.1545del (p.Glu517fs)
|
|
|
|
NM_001042492.3(NF1):c.1549G>T (p.Glu517Ter)
|
rs587778548
|
|
|
NM_001042492.3(NF1):c.154del (p.Ser52fs)
|
rs1131691109
|
|
|
NM_001042492.3(NF1):c.154dup (p.Ser52fs)
|
|
|
|
NM_001042492.3(NF1):c.1551_1564del (p.Glu517fs)
|
rs1131691068
|
|
|
NM_001042492.3(NF1):c.1552del (p.Thr518fs)
|
|
|
|
NM_001042492.3(NF1):c.1555C>T (p.Gln519Ter)
|
rs2066874419
|
|
|
NM_001042492.3(NF1):c.1555del (p.Gln519fs)
|
rs2066874267
|
|
|
NM_001042492.3(NF1):c.1561del (p.Ser521fs)
|
rs1135402814
|
|
|
NM_001042492.3(NF1):c.1562_1563del (p.Ser521fs)
|
rs2143986114
|
|
|
NM_001042492.3(NF1):c.1564dup (p.Thr522fs)
|
rs2066874810
|
|
|
NM_001042492.3(NF1):c.1570G>T (p.Glu524Ter)
|
rs1135402815
|
|
|
NM_001042492.3(NF1):c.1572del (p.Glu524fs)
|
rs1085307461
|
|
|
NM_001042492.3(NF1):c.1574T>A (p.Leu525Ter)
|
|
|
|
NM_001042492.3(NF1):c.1574T>G (p.Leu525Ter)
|
|
|
|
NM_001042492.3(NF1):c.1576_1579del (p.Ile526fs)
|
|
|
|
NM_001042492.3(NF1):c.1578_1582del (p.Ile526fs)
|
|
|
|
NM_001042492.3(NF1):c.1579dup (p.Thr527fs)
|
|
|
|
NM_001042492.3(NF1):c.1584del (p.Leu529fs)
|
rs876658693
|
|
|
NM_001042492.3(NF1):c.1586T>C (p.Leu529Pro)
|
|
|
|
NM_001042492.3(NF1):c.158T>A (p.Leu53Ter)
|
|
|
|
NM_001042492.3(NF1):c.1591C>T (p.Gln531Ter)
|
rs1057518134
|
|
|
NM_001042492.3(NF1):c.1595T>C (p.Leu532Pro)
|
rs199474737
|
|
|
NM_001042492.3(NF1):c.1595T>G (p.Leu532Arg)
|
rs199474737
|
|
|
NM_001042492.3(NF1):c.1597del (p.Val533fs)
|
rs2143986707
|
|
|
NM_001042492.3(NF1):c.1601del (p.Pro534fs)
|
rs2143986751
|
|
|
NM_001042492.3(NF1):c.1603C>T (p.Gln535Ter)
|
rs1567843917
|
|
|
NM_001042492.3(NF1):c.1603del (p.Gln535fs)
|
|
|
|
NM_001042492.3(NF1):c.1606_1607del (p.Ser536fs)
|
rs2066876397
|
|
|
NM_001042492.3(NF1):c.1607C>A (p.Ser536Ter)
|
rs1555612859
|
|
|
NM_001042492.3(NF1):c.1607C>G (p.Ser536Ter)
|
rs1555612859
|
|
|
NM_001042492.3(NF1):c.1608dup (p.His537fs)
|
rs1597703530
|
|
|
NM_001042492.3(NF1):c.160del (p.Val54fs)
|
rs2143626844
|
|
|
NM_001042492.3(NF1):c.1611_1612del (p.Met538fs)
|
rs2066876556
|
|
|
NM_001042492.3(NF1):c.1613del (p.Met538fs)
|
rs1135402817
|
|
|
NM_001042492.3(NF1):c.1613dup (p.Met538fs)
|
|
|
|
NM_001042492.3(NF1):c.1618G>T (p.Glu540Ter)
|
rs1567843930
|
|
|
NM_001042492.3(NF1):c.1619del (p.Glu540fs)
|
rs1567843934
|
|
|
NM_001042492.3(NF1):c.1624_1625insT (p.Ala542fs)
|
rs2143987192
|
|
|
NM_001042492.3(NF1):c.162del (p.Val54_Ile55insTer)
|
rs2065656979
|
|
|
NM_001042492.3(NF1):c.1630del (p.Glu544fs)
|
|
|
|
NM_001042492.3(NF1):c.1632del (p.Ala545fs)
|
|
|
|
NM_001042492.3(NF1):c.1639G>T (p.Glu547Ter)
|
rs2066877587
|
|
|
NM_001042492.3(NF1):c.1639dup (p.Glu547fs)
|
rs2066877516
|
|
|
NM_001042492.3(NF1):c.1641+1G>A
|
rs1555612866
|
|
|
NM_001042492.3(NF1):c.1641+1G>C
|
rs1555612866
|
|
|
NM_001042492.3(NF1):c.1641+1G>T
|
|
|
|
NM_001042492.3(NF1):c.1641+2T>C
|
rs1555612867
|
|
|
NM_001042492.3(NF1):c.1642-10A>G
|
rs1597706578
|
|
|
NM_001042492.3(NF1):c.1642-1G>A
|
rs1555613185
|
|
|
NM_001042492.3(NF1):c.1642-1G>T
|
rs1555613185
|
|
|
NM_001042492.3(NF1):c.1642-2A>G
|
rs1597706620
|
|
|
NM_001042492.3(NF1):c.1642-2A>T
|
rs1597706620
|
|
|
NM_001042492.3(NF1):c.1642-3C>G
|
rs1597706610
|
|
|
NM_001042492.3(NF1):c.1642-449A>G
|
rs863224655
|
|
|
NM_001042492.3(NF1):c.1642-7A>G
|
rs1597706592
|
|
|
NM_001042492.3(NF1):c.1642-8A>G
|
rs267606602
|
|
|
NM_001042492.3(NF1):c.1646T>C (p.Leu549Pro)
|
rs199474758
|
|
|
NM_001042492.3(NF1):c.1646T>G (p.Leu549Arg)
|
|
|
|
NM_001042492.3(NF1):c.1646del (p.Leu549fs)
|
rs2066927581
|
|
|
NM_001042492.3(NF1):c.164dup (p.Ser56fs)
|
|
|
|
NM_001042492.3(NF1):c.1652TTC[1] (p.Leu552del)
|
rs2144003808
|
|
|
NM_001042492.3(NF1):c.1653del (p.Leu552fs)
|
|
|
|
NM_001042492.3(NF1):c.1653dup (p.Leu552fs)
|
|
|
|
NM_001042492.3(NF1):c.1656_1657insA (p.His553fs)
|
rs2144003884
|
|
|
NM_001042492.3(NF1):c.1658A>C (p.His553Pro)
|
rs1064794274
|
|
|
NM_001042492.3(NF1):c.1658A>G (p.His553Arg)
|
rs1064794274
|
|
|
NM_001042492.3(NF1):c.1660C>T (p.Gln554Ter)
|
rs953440640
|
|
|
NM_001042492.3(NF1):c.1660del (p.Gln554fs)
|
rs2144003956
|
|
|
NM_001042492.3(NF1):c.1661_1662del (p.Gln554fs)
|
rs2144003986
|
|
|
NM_001042492.3(NF1):c.1661_1663dup (p.Leu555Ter)
|
|
|
|
NM_001042492.3(NF1):c.1663_1666del (p.Leu555fs)
|
rs2066928095
|
|
|
NM_001042492.3(NF1):c.1664T>G (p.Leu555Ter)
|
rs2144004029
|
|
|
NM_001042492.3(NF1):c.1665dup (p.Asp556fs)
|
|
|
|
NM_001042492.3(NF1):c.1667_1670del (p.Asp556fs)
|
rs1135402819
|
|
|
NM_001042492.3(NF1):c.166del (p.Ser56fs)
|
|
|
|
NM_001042492.3(NF1):c.1671_1683del (p.Ser557fs)
|
rs2144004136
|
|
|
NM_001042492.3(NF1):c.1671del (p.Ser557fs)
|
rs2066928367
|
|
|
NM_001042492.3(NF1):c.1672del (p.Ile558fs)
|
rs1567845057
|
|
|
NM_001042492.3(NF1):c.1679T>A (p.Leu560Ter)
|
|
|
|
NM_001042492.3(NF1):c.1679del (p.Leu560fs)
|
|
|
|
NM_001042492.3(NF1):c.1679dup (p.Leu560fs)
|
|
|
|
NM_001042492.3(NF1):c.1680del (p.Leu560fs)
|
rs1567845069
|
|
|
NM_001042492.3(NF1):c.1682G>A (p.Trp561Ter)
|
rs2144004331
|
|
|
NM_001042492.3(NF1):c.1682_1688dup (p.Asp564fs)
|
rs2144004346
|
|
|
NM_001042492.3(NF1):c.1683G>A (p.Trp561Ter)
|
rs1135402820
|
|
|
NM_001042492.3(NF1):c.1691_1692del (p.Asp564fs)
|
rs2066928784
|
|
|
NM_001042492.3(NF1):c.1691_1692insC (p.Ala565fs)
|
rs2144004523
|
|
|
NM_001042492.3(NF1):c.1693dup (p.Ala565fs)
|
|
|
|
NM_001042492.3(NF1):c.1702_1703dup (p.Thr569fs)
|
rs2144004677
|
|
|
NM_001042492.3(NF1):c.1707del (p.Trp571fs)
|
rs2144004751
|
|
|
NM_001042492.3(NF1):c.1711del (p.Trp571fs)
|
rs1597706737
|
|
|
NM_001042492.3(NF1):c.1712G>A (p.Trp571Ter)
|
rs761199437
|
|
|
NM_001042492.3(NF1):c.1713G>A (p.Trp571Ter)
|
rs863224489
|
|
|
NM_001042492.3(NF1):c.1714G>T (p.Glu572Ter)
|
|
|
|
NM_001042492.3(NF1):c.1714del (p.Glu572fs)
|
rs876660135
|
|
|
NM_001042492.3(NF1):c.1714dup (p.Glu572fs)
|
rs876660135
|
|
|
NM_001042492.3(NF1):c.1717A>G (p.Ile573Val)
|
rs1597706766
|
|
|
NM_001042492.3(NF1):c.1719del (p.Ser574fs)
|
|
|
|
NM_001042492.3(NF1):c.1720A>C (p.Ser574Arg)
|
rs2066929440
|
|
|
NM_001042492.3(NF1):c.1721+1G>C
|
rs1131691096
|
|
|
NM_001042492.3(NF1):c.1721+1G>T
|
rs1131691096
|
|
|
NM_001042492.3(NF1):c.1721+2T>A
|
rs1567845116
|
|
|
NM_001042492.3(NF1):c.1721+2T>C
|
|
|
|
NM_001042492.3(NF1):c.1721+2T>G
|
rs1567845116
|
|
|
NM_001042492.3(NF1):c.1721+3A>C
|
rs1057518904
|
|
|
NM_001042492.3(NF1):c.1721+3A>G
|
rs1057518904
|
|
|
NM_001042492.3(NF1):c.1721G>A (p.Ser574Asn)
|
rs1555613206
|
|
|
NM_001042492.3(NF1):c.1721G>C (p.Ser574Thr)
|
|
|
|
NM_001042492.3(NF1):c.1721G>T (p.Ser574Ile)
|
rs1555613206
|
|
|
NM_001042492.3(NF1):c.1722-11T>A
|
rs2066961306
|
|
|
NM_001042492.3(NF1):c.1722-11T>G
|
rs2066961306
|
|
|
NM_001042492.3(NF1):c.1722-1G>A
|
rs1567845818
|
|
|
NM_001042492.3(NF1):c.1722-1G>T
|
|
|
|
NM_001042492.3(NF1):c.1722-20_1722-17del
|
rs1597708558
|
|
|
NM_001042492.3(NF1):c.1722-26T>C
|
rs1597708542
|
|
|
NM_001042492.3(NF1):c.1722-2A>C
|
rs763983337
|
|
|
NM_001042492.3(NF1):c.1722-2A>G
|
rs763983337
|
|
|
NM_001042492.3(NF1):c.1722-2A>T
|
rs763983337
|
|
|
NM_001042492.3(NF1):c.1722-3C>A
|
rs770211384
|
|
|
NM_001042492.3(NF1):c.1722-8_1722-3delinsAAAA
|
rs1597708581
|
|
|
NM_001042492.3(NF1):c.1722C>G (p.Ser574Arg)
|
rs2144015494
|
|
|
NM_001042492.3(NF1):c.1724C>G (p.Ser575Ter)
|
rs915463951
|
|
|
NM_001042492.3(NF1):c.1726C>T (p.Gln576Ter)
|
rs1060500278
|
|
|
NM_001042492.3(NF1):c.1726_1727insTTTT (p.Gln576fs)
|
rs2144015567
|
|
|
NM_001042492.3(NF1):c.1728_1729del (p.Gln576fs)
|
rs2066961890
|
|
|
NM_001042492.3(NF1):c.1729_1734del (p.Met577_Leu578del)
|
|
|
|
NM_001042492.3(NF1):c.1729del (p.Met577fs)
|
|
|
|
NM_001042492.3(NF1):c.172del (p.Leu58fs)
|
rs2143627085
|
|
|
NM_001042492.3(NF1):c.1733T>C (p.Leu578Pro)
|
rs199474774
|
|
|
NM_001042492.3(NF1):c.1738_1739insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTACAAATGCTTTTTT (p.Tyr580fs)
|
|
|
|
NM_001042492.3(NF1):c.1738del (p.Tyr580fs)
|
rs786204255
|
|
|
NM_001042492.3(NF1):c.1738dup (p.Tyr580fs)
|
rs786204255
|
|
|
NM_001042492.3(NF1):c.1740C>A (p.Tyr580Ter)
|
|
|
|
NM_001042492.3(NF1):c.1740C>G (p.Tyr580Ter)
|
rs786202554
|
|
|
NM_001042492.3(NF1):c.1742del (p.Ile581fs)
|
rs2144015861
|
|
|
NM_001042492.3(NF1):c.1746C>A (p.Cys582Ter)
|
rs2066962353
|
|
|
NM_001042492.3(NF1):c.1747A>T (p.Lys583Ter)
|
rs2144015942
|
|
|
NM_001042492.3(NF1):c.1748A>G (p.Lys583Arg)
|
rs199474760
|
|
|
NM_001042492.3(NF1):c.1748del (p.Lys583fs)
|
rs2144015956
|
|
|
NM_001042492.3(NF1):c.1752_1759del (p.Leu585fs)
|
|
|
|
NM_001042492.3(NF1):c.1753_1759del (p.Leu585fs)
|
rs2066962518
|
|
|
NM_001042492.3(NF1):c.1754T>G (p.Leu585Ter)
|
rs775670722
|
|
|
NM_001042492.3(NF1):c.1754del (p.Lys584_Leu585insTer)
|
|
|
|
NM_001042492.3(NF1):c.1754dup (p.Leu585fs)
|
|
|
|
NM_001042492.3(NF1):c.1756_1759del (p.Thr586fs)
|
rs786202782
|
|
|
NM_001042492.3(NF1):c.1756del (p.Thr586fs)
|
rs2144016093
|
|
|
NM_001042492.3(NF1):c.1759_1760insTAGTT (p.Ser587fs)
|
rs2066962730
|
|
|
NM_001042492.3(NF1):c.1759dup (p.Ser587fs)
|
|
|
|
NM_001042492.3(NF1):c.1761del (p.His588fs)
|
|
|
|
NM_001042492.3(NF1):c.1765C>T (p.Gln589Ter)
|
rs1282299543
|
|
|
NM_001042492.3(NF1):c.1768del (p.Met590fs)
|
|
|
|
NM_001042492.3(NF1):c.176CTA[1] (p.Thr60del)
|
rs2143627187
|
|
|
NM_001042492.3(NF1):c.1774dup (p.Ser592fs)
|
|
|
|
NM_001042492.3(NF1):c.1777_1778insATAA (p.Ser593fs)
|
rs2144016379
|
|
|
NM_001042492.3(NF1):c.1783G>T (p.Glu595Ter)
|
rs1597708728
|
|
|
NM_001042492.3(NF1):c.1783_1784del (p.Glu595fs)
|
rs786204059
|
|
|
NM_001042492.3(NF1):c.1785_1786del (p.Glu595fs)
|
rs1567845900
|
|
|
NM_001042492.3(NF1):c.1788del (p.Leu597fs)
|
|
|
|
NM_001042492.3(NF1):c.1792A>T (p.Lys598Ter)
|
rs2144016542
|
|
|
NM_001042492.3(NF1):c.1796G>A (p.Trp599Ter)
|
rs1131691130
|
|
|
NM_001042492.3(NF1):c.1797G>A (p.Trp599Ter)
|
rs1567845906
|
|
|
NM_001042492.3(NF1):c.1804dup (p.Glu602fs)
|
rs1597708762
|
|
|
NM_001042492.3(NF1):c.1807_1811del (p.Ile603fs)
|
rs2144016788
|
|
|
NM_001042492.3(NF1):c.1809_1810del (p.Leu604fs)
|
rs2144016775
|
|
|
NM_001042492.3(NF1):c.1811T>A (p.Leu604Ter)
|
rs1555613427
|
|
|
NM_001042492.3(NF1):c.1815del (p.Cys606fs)
|
rs1567845935
|
|
|
NM_001042492.3(NF1):c.1818C>A (p.Cys606Ter)
|
rs1567845937
|
|
|
NM_001042492.3(NF1):c.181dup (p.Ile61fs)
|
rs1555604935
|
|
|
NM_001042492.3(NF1):c.1830_1833del (p.Leu612fs)
|
rs2066964073
|
|
|
NM_001042492.3(NF1):c.1833del (p.Asn614fs)
|
|
|
|
NM_001042492.3(NF1):c.1835_1836insAAAAATAAGGTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA (p.Asn614fs)
|
rs2144017227
|
|
|
NM_001042492.3(NF1):c.1836_1837insSVAelement
|
rs2066964219
|
|
|
NM_001042492.3(NF1):c.1845+1G>A
|
rs1567845945
|
|
|
NM_001042492.3(NF1):c.1845+1G>T
|
|
|
|
NM_001042492.3(NF1):c.1845+1_1845+5del
|
rs1135402822
|
|
|
NM_001042492.3(NF1):c.1845+2T>A
|
rs1555613430
|
|
|
NM_001042492.3(NF1):c.1845+2T>C
|
rs1555613430
|
|
|
NM_001042492.3(NF1):c.1845+2T>G
|
|
|
|
NM_001042492.3(NF1):c.1845+2_1845+3insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAATAAGGT
|
|
|
|
NM_001042492.3(NF1):c.1845G>A (p.Lys615=)
|
rs1131691080
|
|
|
NM_001042492.3(NF1):c.1845G>T (p.Lys615Asn)
|
rs1131691080
|
|
|
NM_001042492.3(NF1):c.1846-496_2410-645delinsTAGC
|
|
|
|
NM_001042492.3(NF1):c.1846-569A>C
|
|
|
|
NM_001042492.3(NF1):c.1846C>T (p.Gln616Ter)
|
rs1555613543
|
|
|
NM_001042492.3(NF1):c.1849_1850delinsTA (p.Ala617Ter)
|
rs2066989409
|
|
|
NM_001042492.3(NF1):c.1854_1857del (p.Asp618fs)
|
rs2066989481
|
|
|
NM_001042492.3(NF1):c.1854del (p.Asp618fs)
|
rs1597710342
|
|
|
NM_001042492.3(NF1):c.1857_1863del (p.Arg619fs)
|
rs1567846634
|
|
|
NM_001042492.3(NF1):c.185del (p.Ile61_Leu62insTer)
|
rs2065657742
|
|
|
NM_001042492.3(NF1):c.1861del (p.Ser621fs)
|
rs1597710358
|
|
|
NM_001042492.3(NF1):c.1863del (p.Cys622fs)
|
rs1131691777
|
|
|
NM_001042492.3(NF1):c.1866T>A (p.Cys622Ter)
|
rs753245823
|
|
|
NM_001042492.3(NF1):c.1868del (p.His623fs)
|
rs2066990036
|
|
|
NM_001042492.3(NF1):c.1872del (p.Leu625fs)
|
|
|
|
NM_001042492.3(NF1):c.1872dup (p.Leu625fs)
|
rs2144026030
|
|
|
NM_001042492.3(NF1):c.1874_1875del (p.Leu625fs)
|
rs2144026061
|
|
|
NM_001042492.3(NF1):c.1876del (p.Leu626fs)
|
rs1597710409
|
|
|
NM_001042492.3(NF1):c.1879_1894del (p.Phe627fs)
|
|
|
|
NM_001042492.3(NF1):c.187_188del (p.Lys63fs)
|
|
|
|
NM_001042492.3(NF1):c.1882del (p.Tyr628fs)
|
|
|
|
NM_001042492.3(NF1):c.1882dup (p.Tyr628fs)
|
rs1555613558
|
|
|
NM_001042492.3(NF1):c.1883_1885delinsCC (p.Tyr628fs)
|
rs1135402823
|
|
|
NM_001042492.3(NF1):c.1883del (p.Tyr628fs)
|
|
|
|
NM_001042492.3(NF1):c.1884C>A (p.Tyr628Ter)
|
rs555635097
|
|
|
NM_001042492.3(NF1):c.1884del (p.Phe627_Tyr628insTer)
|
rs2066990429
|
|
|
NM_001042492.3(NF1):c.1885G>A (p.Gly629Arg)
|
rs199474738
|
|
|
NM_001042492.3(NF1):c.1885G>C (p.Gly629Arg)
|
rs199474738
|
|
|
NM_001042492.3(NF1):c.1888del (p.Gly629_Val630insTer)
|
rs1567846670
|
|
|
NM_001042492.3(NF1):c.1888dup (p.Val630fs)
|
rs1567846670
|
|
|
NM_001042492.3(NF1):c.188del (p.Lys63fs)
|
rs1555604939
|
|
|
NM_001042492.3(NF1):c.1895del (p.Cys632fs)
|
rs1597710497
|
|
|
NM_001042492.3(NF1):c.1895dup (p.Cys632fs)
|
rs2066990906
|
|
|
NM_001042492.3(NF1):c.1896_1912del (p.Cys632fs)
|
rs2066990838
|
|
|
NM_001042492.3(NF1):c.1896dup (p.Asp633Ter)
|
rs2066990975
|
|
|
NM_001042492.3(NF1):c.1900dup (p.Ile634fs)
|
|
|
|
NM_001042492.3(NF1):c.1908del (p.Ser637fs)
|
rs2144026600
|
|
|
NM_001042492.3(NF1):c.1912G>T (p.Gly638Ter)
|
rs1555613567
|
|
|
NM_001042492.3(NF1):c.1917dup (p.Thr640fs)
|
|
|
|
NM_001042492.3(NF1):c.1918dup (p.Thr640fs)
|
rs1135402825
|
|
|
NM_001042492.3(NF1):c.1919C>T (p.Thr640Ile)
|
rs1555613573
|
|
|
NM_001042492.3(NF1):c.191del (p.Asn64fs)
|
rs1555604941
|
|
|
NM_001042492.3(NF1):c.1920del (p.Ser641fs)
|
rs2144026762
|
|
|
NM_001042492.3(NF1):c.1924C>T (p.Gln642Ter)
|
rs2066991605
|
|
|
NM_001042492.3(NF1):c.1929_1932del (p.Met643fs)
|
|
|
|
NM_001042492.3(NF1):c.1929dup (p.Ser644fs)
|
rs2066991676
|
|
|
NM_001042492.3(NF1):c.192_193insTAA (p.Val65Ter)
|
rs2143627506
|
|
|
NM_001042492.3(NF1):c.1934dup (p.Met645fs)
|
|
|
|
NM_001042492.3(NF1):c.1942G>T (p.Glu648Ter)
|
rs2066992127
|
|
|
NM_001042492.3(NF1):c.1944_1954dup (p.Arg652fs)
|
|
|
|
NM_001042492.3(NF1):c.1945G>T (p.Glu649Ter)
|
rs2144027139
|
|
|
NM_001042492.3(NF1):c.1946_1950dup (p.Leu651fs)
|
rs2066992207
|
|
|
NM_001042492.3(NF1):c.1947del (p.Glu649fs)
|
|
|
|
NM_001042492.3(NF1):c.1949T>A (p.Leu650Ter)
|
rs1135402826
|
|
|
NM_001042492.3(NF1):c.1949T>G (p.Leu650Ter)
|
rs1135402826
|
|
|
NM_001042492.3(NF1):c.1949_1967dup (p.Ser657fs)
|
|
|
|
NM_001042492.3(NF1):c.1950del (p.Leu650fs)
|
rs1597710658
|
|
|
NM_001042492.3(NF1):c.1953_1969del (p.Arg652fs)
|
|
|
|
NM_001042492.3(NF1):c.1954_1955insTT (p.Arg652fs)
|
|
|
|
NM_001042492.3(NF1):c.1954del (p.Arg652fs)
|
rs1597710675
|
|
|
NM_001042492.3(NF1):c.1955_1956del (p.Arg652fs)
|
rs2066992658
|
|
|
NM_001042492.3(NF1):c.1955del (p.Arg652fs)
|
rs1597710690
|
|
|
NM_001042492.3(NF1):c.195_196insGGGGGAGGAGCCAAGATGGCCGAATAGGAACAGCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGACNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAATGTT (p.Asn66delinsGlyGlyGlyAlaLysMetAlaGluTer)
|
|
|
|
NM_001042492.3(NF1):c.1961del (p.Pro654fs)
|
rs1131691108
|
|
|
NM_001042492.3(NF1):c.1962dup (p.Gly655fs)
|
|
|
|
NM_001042492.3(NF1):c.1964dup (p.Ala656fs)
|
|
|
|
NM_001042492.3(NF1):c.1973_1974del (p.Leu658fs)
|
rs1064796843
|
|
|
NM_001042492.3(NF1):c.197_198insAGAATGTTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAA (p.Asn66delinsLysGluCysTer)
|
rs2143627564
|
|
|
NM_001042492.3(NF1):c.197_198insATAA (p.Asn66delinsLysTer)
|
|
|
|
NM_001042492.3(NF1):c.1982del (p.Gly661fs)
|
rs2144027729
|
|
|
NM_001042492.3(NF1):c.1984A>T (p.Lys662Ter)
|
rs1597710793
|
|
|
NM_001042492.3(NF1):c.1985_1986del (p.Lys662fs)
|
rs2066993468
|
|
|
NM_001042492.3(NF1):c.1985_1991del (p.Lys662fs)
|
|
|
|
NM_001042492.3(NF1):c.1986del (p.Asn664fs)
|
rs2066993468
|
|
|
NM_001042492.3(NF1):c.1986dup (p.Gly663fs)
|
rs2066993468
|
|
|
NM_001042492.3(NF1):c.1988_2410-218delinsTGTC
|
|
|
|
NM_001042492.3(NF1):c.1989del (p.Asn664fs)
|
rs1202226733
|
|
|
NM_001042492.3(NF1):c.198dup (p.Asn67fs)
|
rs2143627611
|
|
|
NM_001042492.3(NF1):c.1992dup (p.Ser665fs)
|
rs1597710824
|
|
|
NM_001042492.3(NF1):c.1995del (p.Ser666fs)
|
rs2066993840
|
|
|
NM_001042492.3(NF1):c.1996del (p.Ser666fs)
|
|
|
|
NM_001042492.3(NF1):c.2002-10T>A
|
|
|
|
NM_001042492.3(NF1):c.2002-1G>A
|
rs1555613743
|
|
|
NM_001042492.3(NF1):c.2002-1G>C
|
rs1555613743
|
|
|
NM_001042492.3(NF1):c.2002-2A>C
|
rs1555613741
|
|
|
NM_001042492.3(NF1):c.2002-2A>G
|
rs1555613741
|
|
|
NM_001042492.3(NF1):c.2002-2_2002-1del
|
rs2151425505
|
|
|
NM_001042492.3(NF1):c.2002-3C>G
|
|
|
|
NM_001042492.3(NF1):c.2009_2016dup (p.Cys673fs)
|
rs2151425528
|
|
|
NM_001042492.3(NF1):c.200del (p.Asn67fs)
|
rs1555604942
|
|
|
NM_001042492.3(NF1):c.2010dup (p.Ala671fs)
|
rs2151425531
|
|
|
NM_001042492.3(NF1):c.2016_2031del (p.Cys673fs)
|
|
|
|
NM_001042492.3(NF1):c.2019C>A (p.Cys673Ter)
|
rs146624509
|
|
|
NM_001042492.3(NF1):c.2023G>T (p.Gly675Ter)
|
|
|
|
NM_001042492.3(NF1):c.2024dup (p.Thr676fs)
|
|
|
|
NM_001042492.3(NF1):c.2026del (p.Thr676fs)
|
|
|
|
NM_001042492.3(NF1):c.2027_2034del (p.Thr676fs)
|
|
|
|
NM_001042492.3(NF1):c.2032_2033insT (p.Pro678fs)
|
|
|
|
NM_001042492.3(NF1):c.2033_2034delinsA (p.Pro678fs)
|
rs2151425601
|
|
|
NM_001042492.3(NF1):c.2033_2034insA (p.Ile679fs)
|
|
|
|
NM_001042492.3(NF1):c.2033del (p.Pro678fs)
|
rs587781807
|
|
|
NM_001042492.3(NF1):c.2033dup (p.Ile679fs)
|
rs587781807
|
|
|
NM_001042492.3(NF1):c.2034_2035insC (p.Ile679fs)
|
rs2151425611
|
|
|
NM_001042492.3(NF1):c.2034del (p.Ile679fs)
|
rs1567847384
|
|
|
NM_001042492.3(NF1):c.2034delinsCA (p.Ile679fs)
|
rs1064796331
|
|
|
NM_001042492.3(NF1):c.2036_2043dup (p.Gln682fs)
|
rs2151425597
|
|
|
NM_001042492.3(NF1):c.2038dup (p.Cys680fs)
|
|
|
|
NM_001042492.3(NF1):c.203_204del (p.Met68fs)
|
|
|
|
NM_001042492.3(NF1):c.204+1G>A
|
rs886039548
|
|
|
NM_001042492.3(NF1):c.204+1G>C
|
rs886039548
|
|
|
NM_001042492.3(NF1):c.204+1G>T
|
rs886039548
|
|
|
NM_001042492.3(NF1):c.204+2T>A
|
|
|
|
NM_001042492.3(NF1):c.204+2T>G
|
rs1597626161
|
|
|
NM_001042492.3(NF1):c.204+3_204+6del
|
rs1567814632
|
|
|
NM_001042492.3(NF1):c.2041del (p.Arg681fs)
|
rs1567847398
|
|
|
NM_001042492.3(NF1):c.2044C>T (p.Gln682Ter)
|
rs1597712392
|
|
|
NM_001042492.3(NF1):c.2045_2049dup (p.Gln684fs)
|
rs1597712398
|
|
|
NM_001042492.3(NF1):c.2047_2057dup (p.Leu687fs)
|
rs1597712403
|
|
|
NM_001042492.3(NF1):c.2049_2083del (p.Gln684fs)
|
rs2067016480
|
|
|
NM_001042492.3(NF1):c.205-19T>A
|
rs1597629649
|
|
|
NM_001042492.3(NF1):c.205-1G>A
|
rs1555605362
|
|
|
NM_001042492.3(NF1):c.205-1G>C
|
rs1555605362
|
|
|
NM_001042492.3(NF1):c.205-1G>T
|
rs1555605362
|
|
|
NM_001042492.3(NF1):c.205-2A>C
|
rs1597629679
|
|
|
NM_001042492.3(NF1):c.205-2A>G
|
rs1597629679
|
|
|
NM_001042492.3(NF1):c.2050C>T (p.Gln684Ter)
|
rs2067016517
|
|
|
NM_001042492.3(NF1):c.2058del (p.Lys686fs)
|
|
|
|
NM_001042492.3(NF1):c.2062G>T (p.Glu688Ter)
|
rs1555613784
|
|
|
NM_001042492.3(NF1):c.2064del (p.Val689fs)
|
rs1555613786
|
|
|
NM_001042492.3(NF1):c.2064dup (p.Val689fs)
|
rs1555613786
|
|
|
NM_001042492.3(NF1):c.2071del (p.Leu691fs)
|
rs1060500364
|
|
|
NM_001042492.3(NF1):c.2072T>G (p.Leu691Arg)
|
rs1131691132
|
|
|
NM_001042492.3(NF1):c.2075_2081del (p.Tyr692fs)
|
|
|
|
NM_001042492.3(NF1):c.2077_2078del (p.Met693fs)
|
rs1555613795
|
|
|
NM_001042492.3(NF1):c.2082del (p.Leu695fs)
|
rs2151425736
|
|
|
NM_001042492.3(NF1):c.2082dup (p.Leu695fs)
|
rs2151425736
|
|
|
NM_001042492.3(NF1):c.2084T>C (p.Leu695Pro)
|
rs199474761
|
|
|
NM_001042492.3(NF1):c.2086_2088del (p.Trp696del)
|
rs2067017409
|
|
|
NM_001042492.3(NF1):c.2087G>A (p.Trp696Ter)
|
rs2151425754
|
|
|
NM_001042492.3(NF1):c.2088G>A (p.Trp696Ter)
|
rs1131691099
|
|
|
NM_001042492.3(NF1):c.2090del (p.Asn697fs)
|
|
|
|
NM_001042492.3(NF1):c.2093del (p.Pro698fs)
|
|
|
|
NM_001042492.3(NF1):c.2095dup (p.Asp699fs)
|
|
|
|
NM_001042492.3(NF1):c.2098del (p.Thr700fs)
|
|
|
|
NM_001042492.3(NF1):c.2098dup (p.Thr700fs)
|
|
|
|
NM_001042492.3(NF1):c.2103del (p.Ala702fs)
|
|
|
|
NM_001042492.3(NF1):c.2106_2107insCA (p.Val703fs)
|
|
|
|
NM_001042492.3(NF1):c.2109_2122del (p.Val705fs)
|
|
|
|
NM_001042492.3(NF1):c.2111del (p.Leu704fs)
|
rs2151425802
|
|
|
NM_001042492.3(NF1):c.2115del (p.Ala706fs)
|
|
|
|
NM_001042492.3(NF1):c.2116dup (p.Ala706fs)
|
rs2151425815
|
|
|
NM_001042492.3(NF1):c.2122del (p.Ser708fs)
|
rs1597712535
|
|
|
NM_001042492.3(NF1):c.2123_2128del (p.Ser708_Cys709del)
|
rs2151425842
|
|
|
NM_001042492.3(NF1):c.2125T>C (p.Cys709Arg)
|
rs1131691095
|
|
|
NM_001042492.3(NF1):c.2127T>A (p.Cys709Ter)
|
rs2067018146
|
|
|
NM_001042492.3(NF1):c.2129del (p.Phe710fs)
|
rs2151425856
|
|
|
NM_001042492.3(NF1):c.2131del (p.Arg711fs)
|
rs2067018223
|
|
|
NM_001042492.3(NF1):c.2131dup (p.Arg711fs)
|
|
|
|
NM_001042492.3(NF1):c.2132del (p.Arg711fs)
|
|
|
|
NM_001042492.3(NF1):c.2135_2136dup (p.Leu713fs)
|
rs1555613810
|
|
|
NM_001042492.3(NF1):c.2136_2142del (p.His712fs)
|
rs1555613811
|
|
|
NM_001042492.3(NF1):c.2142T>A (p.Cys714Ter)
|
rs141382637
|
|
|
NM_001042492.3(NF1):c.2143G>T (p.Glu715Ter)
|
|
|
|
NM_001042492.3(NF1):c.2148_2151dup (p.Asp718fs)
|
|
|
|
NM_001042492.3(NF1):c.2148_2159delinsTGAAGTGTCT (p.Glu716fs)
|
rs1567847538
|
|
|
NM_001042492.3(NF1):c.2148del (p.Ala717fs)
|
rs2151425907
|
|
|
NM_001042492.3(NF1):c.2149del (p.Ala717fs)
|
rs1567847540
|
|
|
NM_001042492.3(NF1):c.2152del (p.Asp718fs)
|
|
|
|
NM_001042492.3(NF1):c.2155del (p.Ile719fs)
|
|
|
|
NM_001042492.3(NF1):c.2155dup (p.Ile719fs)
|
|
|
|
NM_001042492.3(NF1):c.2158del (p.Arg720fs)
|
rs1597712619
|
|
|
NM_001042492.3(NF1):c.2158dup (p.Arg720fs)
|
rs1597712619
|
|
|
NM_001042492.3(NF1):c.2160dup (p.Cys721fs)
|
|
|
|
NM_001042492.3(NF1):c.2161_2165dup (p.Asp724fs)
|
|
|
|
NM_001042492.3(NF1):c.2163T>A (p.Cys721Ter)
|
rs1555613816
|
|
|
NM_001042492.3(NF1):c.2166_2170del (p.Gly722_Val723insTer)
|
|
|
|
NM_001042492.3(NF1):c.2167del (p.Val723fs)
|
rs1567847571
|
|
|
NM_001042492.3(NF1):c.2167dup (p.Val723fs)
|
rs1567847571
|
|
|
NM_001042492.3(NF1):c.2174_2177dup (p.His729fs)
|
rs2151425977
|
|
|
NM_001042492.3(NF1):c.2178del (p.Ser727fs)
|
rs786202954
|
|
|
NM_001042492.3(NF1):c.2180C>G (p.Ser727Ter)
|
rs2151425993
|
|
|
NM_001042492.3(NF1):c.2183_2184insC (p.His729fs)
|
|
|
|
NM_001042492.3(NF1):c.2185del (p.His729fs)
|
|
|
|
NM_001042492.3(NF1):c.2188_2191dup (p.Leu731fs)
|
|
|
|
NM_001042492.3(NF1):c.2189_2193del (p.Asn730fs)
|
|
|
|
NM_001042492.3(NF1):c.2189del (p.Asn730fs)
|
rs2151426016
|
|
|
NM_001042492.3(NF1):c.2189dup (p.Asn730fs)
|
|
|
|
NM_001042492.3(NF1):c.2191dup (p.Leu731fs)
|
rs2151426027
|
|
|
NM_001042492.3(NF1):c.2195T>A (p.Leu732Ter)
|
|
|
|
NM_001042492.3(NF1):c.2199del (p.Asn734fs)
|
rs2067019858
|
|
|
NM_001042492.3(NF1):c.2203dup (p.Tyr735fs)
|
|
|
|
NM_001042492.3(NF1):c.2205T>A (p.Tyr735Ter)
|
|
|
|
NM_001042492.3(NF1):c.2207del (p.Asn736fs)
|
rs1597712699
|
|
|
NM_001042492.3(NF1):c.2209del (p.Thr737fs)
|
rs2067020259
|
|
|
NM_001042492.3(NF1):c.2210_2211del (p.Thr737fs)
|
rs1555613831
|
|
|
NM_001042492.3(NF1):c.2218G>T (p.Glu740Ter)
|
rs1135402827
|
|
|
NM_001042492.3(NF1):c.2219del (p.Glu740fs)
|
rs2151426094
|
|
|
NM_001042492.3(NF1):c.221_222dup (p.Ala75fs)
|
rs1597629724
|
|
|
NM_001042492.3(NF1):c.2220del (p.Glu740fs)
|
|
|
|
NM_001042492.3(NF1):c.2227del (p.Ser743fs)
|
rs2151426113
|
|
|
NM_001042492.3(NF1):c.2229del (p.Val744fs)
|
rs2151426120
|
|
|
NM_001042492.3(NF1):c.2229dup (p.Val744fs)
|
rs2067020544
|
|
|
NM_001042492.3(NF1):c.2237del (p.Asn746fs)
|
rs1555613838
|
|
|
NM_001042492.3(NF1):c.2244dup (p.Ser749fs)
|
rs1597712758
|
|
|
NM_001042492.3(NF1):c.2246C>G (p.Ser749Ter)
|
rs778344080
|
|
|
NM_001042492.3(NF1):c.2248del (p.Thr750fs)
|
rs2151426166
|
|
|
NM_001042492.3(NF1):c.2248dup (p.Thr750fs)
|
rs2151426166
|
|
|
NM_001042492.3(NF1):c.2251+1G>A
|
rs1555613843
|
|
|
NM_001042492.3(NF1):c.2251+1G>C
|
rs1555613843
|
|
|
NM_001042492.3(NF1):c.2251+1G>T
|
rs1555613843
|
|
|
NM_001042492.3(NF1):c.2251+1del
|
rs2151426173
|
|
|
NM_001042492.3(NF1):c.2251+2T>A
|
|
|
|
NM_001042492.3(NF1):c.2251+2T>C
|
|
|
|
NM_001042492.3(NF1):c.2251+2T>G
|
rs864622142
|
|
|
NM_001042492.3(NF1):c.2251G>A (p.Gly751Arg)
|
rs1567847681
|
|
|
NM_001042492.3(NF1):c.2251G>C (p.Gly751Arg)
|
rs1567847681
|
|
|
NM_001042492.3(NF1):c.2252-13T>A
|
rs778325867
|
|
|
NM_001042492.3(NF1):c.2252-1G>A
|
rs587781577
|
|
|
NM_001042492.3(NF1):c.2252-1G>C
|
rs587781577
|
|
|
NM_001042492.3(NF1):c.2252-2A>C
|
rs1131691105
|
|
|
NM_001042492.3(NF1):c.2252-2A>G
|
rs1131691105
|
|
|
NM_001042492.3(NF1):c.2252-33_2252-8del
|
rs1597713206
|
|
|
NM_001042492.3(NF1):c.2252-3T>G
|
rs1057518842
|
|
|
NM_001042492.3(NF1):c.2252-70_2326-39dup
|
rs1555613896
|
|
|
NM_001042492.3(NF1):c.2256_2257del (p.Arg752fs)
|
rs2067030499
|
|
|
NM_001042492.3(NF1):c.2259dup (p.Ala754fs)
|
|
|
|
NM_001042492.3(NF1):c.2266C>T (p.Gln756Ter)
|
rs1567847905
|
|
|
NM_001042492.3(NF1):c.2268del (p.Arg758fs)
|
rs2151426865
|
|
|
NM_001042492.3(NF1):c.226G>T (p.Glu76Ter)
|
|
|
|
NM_001042492.3(NF1):c.2271_2272del (p.Arg758fs)
|
rs2067030828
|
|
|
NM_001042492.3(NF1):c.2272A>T (p.Arg758Ter)
|
rs777759192
|
|
|
NM_001042492.3(NF1):c.2274_2275del (p.Arg758fs)
|
rs2151426874
|
|
|
NM_001042492.3(NF1):c.2276_2277del (p.Val759fs)
|
rs2151426879
|
|
|
NM_001042492.3(NF1):c.2276_2280del (p.Val759fs)
|
rs2067031065
|
|
|
NM_001042492.3(NF1):c.2276del (p.Val759fs)
|
rs2067031123
|
|
|
NM_001042492.3(NF1):c.2281del (p.Ala761fs)
|
|
|
|
NM_001042492.3(NF1):c.2284_2296del (p.Leu763fs)
|
|
|
|
NM_001042492.3(NF1):c.2288T>C (p.Leu763Pro)
|
rs199474762
|
|
|
NM_001042492.3(NF1):c.2288T>G (p.Leu763Arg)
|
rs199474762
|
|
|
NM_001042492.3(NF1):c.2293del (p.Arg765fs)
|
rs1597713360
|
|
|
NM_001042492.3(NF1):c.2293dup (p.Arg765fs)
|
|
|
|
NM_001042492.3(NF1):c.2294_2295del (p.Arg765fs)
|
rs2067031470
|
|
|
NM_001042492.3(NF1):c.2294del (p.Arg765fs)
|
rs2151426934
|
|
|
NM_001042492.3(NF1):c.2295_2298dup (p.Glu767delinsHisTer)
|
rs2151426942
|
|
|
NM_001042492.3(NF1):c.2298_2304del (p.Glu767fs)
|
rs786204154
|
|
|
NM_001042492.3(NF1):c.230_233del (p.Lys77fs)
|
|
|
|
NM_001042492.3(NF1):c.230_239del (p.Lys77fs)
|
|
|
|
NM_001042492.3(NF1):c.2310_2319del (p.Ala771fs)
|
rs2151426968
|
|
|
NM_001042492.3(NF1):c.2314G>T (p.Gly772Ter)
|
rs2151426983
|
|
|
NM_001042492.3(NF1):c.2318del (p.Asn773fs)
|
|
|
|
NM_001042492.3(NF1):c.2318dup (p.Asn773fs)
|
rs2151426990
|
|
|
NM_001042492.3(NF1):c.2319dup (p.Thr774fs)
|
rs2067032198
|
|
|
NM_001042492.3(NF1):c.231_235del (p.Lys77fs)
|
|
|
|
NM_001042492.3(NF1):c.2322_2323del (p.Glu775fs)
|
rs1567847962
|
|
|
NM_001042492.3(NF1):c.2322del (p.Glu775fs)
|
rs2151427010
|
|
|
NM_001042492.3(NF1):c.2322dup (p.Glu775Ter)
|
|
|
|
NM_001042492.3(NF1):c.2324A>C (p.Glu775Ala)
|
rs2067032355
|
|
|
NM_001042492.3(NF1):c.2325+1G>A
|
rs1555613933
|
|
|
NM_001042492.3(NF1):c.2325+1G>C
|
|
|
|
NM_001042492.3(NF1):c.2325+1G>T
|
rs1555613933
|
|
|
NM_001042492.3(NF1):c.2325+2T>C
|
rs1567847972
|
|
|
NM_001042492.3(NF1):c.2325+3A>G
|
rs1057517848
|
|
|
NM_001042492.3(NF1):c.2325G>A (p.Glu775=)
|
rs1555613932
|
|
|
NM_001042492.3(NF1):c.2325G>C (p.Glu775Asp)
|
rs1555613932
|
|
|
NM_001042492.3(NF1):c.2325G>T (p.Glu775Asp)
|
rs1555613932
|
|
|
NM_001042492.3(NF1):c.2326-1G>A
|
rs1567848100
|
|
|
NM_001042492.3(NF1):c.2326-1G>C
|
rs1567848100
|
|
|
NM_001042492.3(NF1):c.2326-1G>T
|
rs1567848100
|
|
|
NM_001042492.3(NF1):c.2326-2A>C
|
rs1555613975
|
|
|
NM_001042492.3(NF1):c.2326-2A>G
|
rs1555613975
|
|
|
NM_001042492.3(NF1):c.2326-2A>T
|
|
|
|
NM_001042492.3(NF1):c.2326-3T>G
|
rs876658946
|
|
|
NM_001042492.3(NF1):c.2326-6T>G
|
rs1597713670
|
|
|
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.2329T>G (p.Trp777Gly)
|
rs876658853
|
|
|
NM_001042492.3(NF1):c.232_235del (p.Asn78fs)
|
rs2143645748
|
|
|
NM_001042492.3(NF1):c.2330G>A (p.Trp777Ter)
|
rs199474745
|
|
|
NM_001042492.3(NF1):c.2330G>C (p.Trp777Ser)
|
rs199474745
|
|
|
NM_001042492.3(NF1):c.2331G>A (p.Trp777Ter)
|
rs1555613983
|
|
|
NM_001042492.3(NF1):c.2331_2365del (p.Trp777_Lys789delinsTer)
|
rs2067037428
|
|
|
NM_001042492.3(NF1):c.2332G>T (p.Glu778Ter)
|
rs749404479
|
|
|
NM_001042492.3(NF1):c.2336dup (p.Asp779fs)
|
|
|
|
NM_001042492.3(NF1):c.2338_2343del (p.Thr780_His781del)
|
rs1135402828
|
|
|
NM_001042492.3(NF1):c.2338dup (p.Thr780fs)
|
rs1567848129
|
|
|
NM_001042492.3(NF1):c.2339C>A (p.Thr780Lys)
|
rs199474746
|
|
|
NM_001042492.3(NF1):c.2339C>G (p.Thr780Arg)
|
rs199474746
|
|
|
NM_001042492.3(NF1):c.2339del (p.Thr780fs)
|
rs2067037681
|
|
|
NM_001042492.3(NF1):c.233del (p.Asn78fs)
|
rs1438566555
|
|
|
NM_001042492.3(NF1):c.233dup (p.Asn78fs)
|
|
|
|
NM_001042492.3(NF1):c.2342A>C (p.His781Pro)
|
rs199474763
|
|
|
NM_001042492.3(NF1):c.2343del (p.His781fs)
|
rs2151427468
|
|
|
NM_001042492.3(NF1):c.2349del (p.Lys783fs)
|
rs1135402829
|
|
|
NM_001042492.3(NF1):c.2350_2378dup (p.Asn793_Tyr794insGlyAsnLysGlnGlnSerTer)
|
rs2067037965
|
|
|
NM_001042492.3(NF1):c.2351G>A (p.Trp784Ter)
|
|
|
|
NM_001042492.3(NF1):c.2351G>C (p.Trp784Ser)
|
rs2067038047
|
|
|
NM_001042492.3(NF1):c.2351_2352delinsC (p.Trp784fs)
|
rs1567848147
|
|
|
NM_001042492.3(NF1):c.2352G>A (p.Trp784Ter)
|
rs199474778
|
|
|
NM_001042492.3(NF1):c.2352G>C (p.Trp784Cys)
|
rs199474778
|
|
|
NM_001042492.3(NF1):c.2353G>T (p.Glu785Ter)
|
rs1597713756
|
|
|
NM_001042492.3(NF1):c.2353del (p.Glu785fs)
|
|
|
|
NM_001042492.3(NF1):c.2353dup (p.Glu785fs)
|
rs2067038120
|
|
|
NM_001042492.3(NF1):c.2356C>T (p.Gln786Ter)
|
rs1555613999
|
|
|
NM_001042492.3(NF1):c.2366del (p.Lys789fs)
|
|
|
|
NM_001042492.3(NF1):c.2369_2370dup (p.Ile791Ter)
|
rs2067038509
|
|
|
NM_001042492.3(NF1):c.236T>A (p.Leu79Ter)
|
rs1597629765
|
|
|
NM_001042492.3(NF1):c.236T>G (p.Leu79Ter)
|
rs1597629765
|
|
|
NM_001042492.3(NF1):c.236del (p.Leu79fs)
|
rs749577520
|
|
|
NM_001042492.3(NF1):c.236dup (p.Leu79fs)
|
|
|
|
NM_001042492.3(NF1):c.2374del (p.Asn793fs)
|
rs2151427546
|
|
|
NM_001042492.3(NF1):c.2375T>A (p.Leu792His)
|
rs1597713777
|
|
|
NM_001042492.3(NF1):c.2376del (p.Asn793fs)
|
|
|
|
NM_001042492.3(NF1):c.237del (p.Leu79fs)
|
rs2143645855
|
|
|
NM_001042492.3(NF1):c.2380del (p.Tyr794fs)
|
rs1567848178
|
|
|
NM_001042492.3(NF1):c.2382T>A (p.Tyr794Ter)
|
rs2151427564
|
|
|
NM_001042492.3(NF1):c.2382T>G (p.Tyr794Ter)
|
|
|
|
NM_001042492.3(NF1):c.2388del (p.Ala797fs)
|
rs1555614011
|
|
|
NM_001042492.3(NF1):c.2388dup (p.Ala797fs)
|
rs1555614011
|
|
|
NM_001042492.3(NF1):c.238dup (p.Tyr80fs)
|
|
|
|
NM_001042492.3(NF1):c.2395del (p.Met799fs)
|
|
|
|
NM_001042492.3(NF1):c.2398G>T (p.Glu800Ter)
|
rs2151427599
|
|
|
NM_001042492.3(NF1):c.2398del (p.Glu800fs)
|
rs2067039387
|
|
|
NM_001042492.3(NF1):c.239_240del (p.Tyr80fs)
|
|
|
|
NM_001042492.3(NF1):c.239_242del (p.Tyr80fs)
|
rs2143645885
|
|
|
NM_001042492.3(NF1):c.2405del (p.Gly802fs)
|
rs2151427620
|
|
|
NM_001042492.3(NF1):c.2407C>T (p.Gln803Ter)
|
rs1567848213
|
|
|
NM_001042492.3(NF1):c.2407del (p.Gln803fs)
|
|
|
|
NM_001042492.3(NF1):c.2409+1G>A
|
rs1555614022
|
|
|
NM_001042492.3(NF1):c.2409+1G>C
|
rs1555614022
|
|
|
NM_001042492.3(NF1):c.2409+1G>T
|
rs1555614022
|
|
|
NM_001042492.3(NF1):c.2409+1_2409+2insA
|
|
|
|
NM_001042492.3(NF1):c.2409+1dup
|
rs2151427637
|
|
|
NM_001042492.3(NF1):c.2409+2T>A
|
rs876660826
|
|
|
NM_001042492.3(NF1):c.2409+2T>G
|
rs876660826
|
|
|
NM_001042492.3(NF1):c.2409+2del
|
rs878853875
|
|
|
NM_001042492.3(NF1):c.2409_2409+4delinsC
|
rs2151427639
|
|
|
NM_001042492.3(NF1):c.240T>A (p.Tyr80Ter)
|
rs2143645944
|
|
|
NM_001042492.3(NF1):c.2410-110_2850+65delinsAAAA
|
rs1555614169
|
|
|
NM_001042492.3(NF1):c.2410-12T>G
|
rs876657932
|
|
|
NM_001042492.3(NF1):c.2410-13A>G
|
rs1567848711
|
|
|
NM_001042492.3(NF1):c.2410-14A>G
|
rs773710071
|
|
|
NM_001042492.3(NF1):c.2410-15A>G
|
rs1597715031
|
|
|
NM_001042492.3(NF1):c.2410-16A>G
|
rs1567848704
|
|
|
NM_001042492.3(NF1):c.2410-18C>G
|
rs533210843
|
|
|
NM_001042492.3(NF1):c.2410-1G>A
|
rs1057518792
|
|
|
NM_001042492.3(NF1):c.2410-1G>C
|
rs1057518792
|
|
|
NM_001042492.3(NF1):c.2410-1G>T
|
|
|
|
NM_001042492.3(NF1):c.2410-2A>C
|
rs2151428764
|
|
|
NM_001042492.3(NF1):c.2410-2A>G
|
rs2151428764
|
|
|
NM_001042492.3(NF1):c.2410-3T>G
|
rs1450743199
|
|
|
NM_001042492.3(NF1):c.2410-9T>A
|
rs1597715061
|
|
|
NM_001042492.3(NF1):c.2411del (p.Ala804fs)
|
rs1555614180
|
|
|
NM_001042492.3(NF1):c.2412del (p.Ala805fs)
|
|
|
|
NM_001042492.3(NF1):c.2414_2427del (p.Ala805fs)
|
|
|
|
NM_001042492.3(NF1):c.2419del (p.Ser807fs)
|
rs2067064355
|
|
|
NM_001042492.3(NF1):c.2424del (p.His809fs)
|
rs1567848731
|
|
|
NM_001042492.3(NF1):c.2429_2493del (p.Lys810fs)
|
rs1597715102
|
|
|
NM_001042492.3(NF1):c.2429dup (p.Thr811fs)
|
rs2151428834
|
|
|
NM_001042492.3(NF1):c.2433dup (p.Ile812fs)
|
|
|
|
NM_001042492.3(NF1):c.2434del (p.Ile812fs)
|
rs1567848739
|
|
|
NM_001042492.3(NF1):c.2439_2440insG (p.Lys814fs)
|
rs2067064699
|
|
|
NM_001042492.3(NF1):c.2440A>T (p.Lys814Ter)
|
rs1555614184
|
|
|
NM_001042492.3(NF1):c.2441dup (p.Arg815fs)
|
|
|
|
NM_001042492.3(NF1):c.2443del (p.Arg815fs)
|
rs2151428869
|
|
|
NM_001042492.3(NF1):c.2446C>T (p.Arg816Ter)
|
rs886041347
|
|
|
NM_001042492.3(NF1):c.2447del (p.Arg816fs)
|
rs2067064931
|
|
|
NM_001042492.3(NF1):c.2449dup (p.Met817fs)
|
rs1567848755
|
|
|
NM_001042492.3(NF1):c.244T>C (p.Ser82Pro)
|
rs1597629813
|
|
|
NM_001042492.3(NF1):c.244_247del (p.Ser82_Gln83insTer)
|
rs771115661
|
|
|
NM_001042492.3(NF1):c.244del (p.Ser82fs)
|
rs2143646047
|
|
|
NM_001042492.3(NF1):c.2450del (p.Met817fs)
|
rs2151428892
|
|
|
NM_001042492.3(NF1):c.2450dup (p.Met817fs)
|
rs2151428891
|
|
|
NM_001042492.3(NF1):c.2452del (p.Ser818fs)
|
rs2067065066
|
|
|
NM_001042492.3(NF1):c.2453_2454insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTNNNNNNNNNNAAAAAAAAAAAAGAGGCGAATGTC (p.His819fs)
|
rs2151428861
|
|
|
NM_001042492.3(NF1):c.2455del (p.His819fs)
|
rs1567848761
|
|
|
NM_001042492.3(NF1):c.2458del (p.His819_Val820insTer)
|
rs1597715179
|
|
|
NM_001042492.3(NF1):c.245C>A (p.Ser82Tyr)
|
rs199474729
|
|
|
NM_001042492.3(NF1):c.245C>T (p.Ser82Phe)
|
rs199474729
|
|
|
NM_001042492.3(NF1):c.2464G>T (p.Gly822Ter)
|
rs2067065463
|
|
|
NM_001042492.3(NF1):c.2465del (p.Gly822fs)
|
|
|
|
NM_001042492.3(NF1):c.2467G>T (p.Gly823Ter)
|
|
|
|
NM_001042492.3(NF1):c.246_247del (p.Gln83fs)
|
rs771115661
|
|
|
NM_001042492.3(NF1):c.246_248delinsG (p.Gln83fs)
|
rs2143646085
|
|
|
NM_001042492.3(NF1):c.247C>T (p.Gln83Ter)
|
rs746824139
|
|
|
NM_001042492.3(NF1):c.2481_2491del (p.Leu828fs)
|
rs2067065846
|
|
|
NM_001042492.3(NF1):c.2483del (p.Leu828fs)
|
rs1131691069
|
|
|
NM_001042492.3(NF1):c.2485_2494del (p.Ser829fs)
|
rs2067065917
|
|
|
NM_001042492.3(NF1):c.2487dup (p.Asp830Ter)
|
rs2151428963
|
|
|
NM_001042492.3(NF1):c.248A>C (p.Gln83Pro)
|
rs1060500360
|
|
|
NM_001042492.3(NF1):c.2491del (p.Thr831fs)
|
|
|
|
NM_001042492.3(NF1):c.2492_2493del (p.Thr831fs)
|
|
|
|
NM_001042492.3(NF1):c.2494del (p.Asp832fs)
|
|
|
|
NM_001042492.3(NF1):c.249del (p.Gln83fs)
|
|
|
|
NM_001042492.3(NF1):c.2500del (p.Leu834fs)
|
|
|
|
NM_001042492.3(NF1):c.2503C>T (p.Gln835Ter)
|
rs1555614207
|
|
|
NM_001042492.3(NF1):c.2506G>T (p.Glu836Ter)
|
rs2067066435
|
|
|
NM_001042492.3(NF1):c.2506del (p.Glu836fs)
|
|
|
|
NM_001042492.3(NF1):c.2509T>G (p.Trp837Gly)
|
rs587781747
|
|
|
NM_001042492.3(NF1):c.2511G>A (p.Trp837Ter)
|
rs1555614211
|
|
|
NM_001042492.3(NF1):c.2517del (p.Asn839fs)
|
|
|
|
NM_001042492.3(NF1):c.2521A>C (p.Thr841Pro)
|
rs2067066952
|
|
|
NM_001042492.3(NF1):c.2521_2524dup (p.Gly842fs)
|
rs2067066922
|
|
|
NM_001042492.3(NF1):c.2524_2531delinsAGCTTCCA (p.Gly842_Leu844delinsSerPheHis)
|
rs1597715286
|
|
|
NM_001042492.3(NF1):c.2525del (p.Gly842fs)
|
rs1597715284
|
|
|
NM_001042492.3(NF1):c.2525dup (p.Phe843fs)
|
rs1597715284
|
|
|
NM_001042492.3(NF1):c.252del (p.Ile85fs)
|
rs2143646186
|
|
|
NM_001042492.3(NF1):c.2530C>T (p.Leu844Phe)
|
rs199474785
|
|
|
NM_001042492.3(NF1):c.2531T>A (p.Leu844His)
|
rs137854566
|
|
|
NM_001042492.3(NF1):c.2531T>C (p.Leu844Pro)
|
rs137854566
|
|
|
NM_001042492.3(NF1):c.2531T>G (p.Leu844Arg)
|
rs137854566
|
|
|
NM_001042492.3(NF1):c.2533T>C (p.Cys845Arg)
|
rs1060500254
|
|
|
NM_001042492.3(NF1):c.2534G>A (p.Cys845Tyr)
|
rs1060500367
|
|
|
NM_001042492.3(NF1):c.2535_2541del (p.Cys845fs)
|
|
|
|
NM_001042492.3(NF1):c.2536G>C (p.Ala846Pro)
|
rs1555614226
|
|
|
NM_001042492.3(NF1):c.2537C>A (p.Ala846Asp)
|
rs1555614229
|
|
|
NM_001042492.3(NF1):c.2539dup (p.Leu847fs)
|
rs2067067405
|
|
|
NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro)
|
rs199474747
|
|
|
NM_001042492.3(NF1):c.2540T>G (p.Leu847Arg)
|
rs199474747
|
|
|
NM_001042492.3(NF1):c.2542G>A (p.Gly848Arg)
|
rs1060500368
|
|
|
NM_001042492.3(NF1):c.2542G>C (p.Gly848Arg)
|
rs1060500368
|
|
|
NM_001042492.3(NF1):c.2543G>A (p.Gly848Glu)
|
rs199474748
|
|
|
NM_001042492.3(NF1):c.2545G>T (p.Gly849Ter)
|
rs1064794275
|
|
|
NM_001042492.3(NF1):c.2545_2546dup (p.Val850fs)
|
rs1567848878
|
|
|
NM_001042492.3(NF1):c.2546del (p.Gly849fs)
|
rs1567848878
|
|
|
NM_001042492.3(NF1):c.2546dup (p.Val850fs)
|
rs1567848878
|
|
|
NM_001042492.3(NF1):c.2547dup (p.Val850fs)
|
|
|
|
NM_001042492.3(NF1):c.2553C>A (p.Cys851Ter)
|
rs2230852
|
|
|
NM_001042492.3(NF1):c.2557C>T (p.Gln853Ter)
|
rs2151429126
|
|
|
NM_001042492.3(NF1):c.2560C>T (p.Gln854Ter)
|
rs1555614261
|
|
|
NM_001042492.3(NF1):c.2560_2570del (p.Gln854fs)
|
|
|
|
NM_001042492.3(NF1):c.2563A>T (p.Arg855Ter)
|
rs2151429138
|
|
|
NM_001042492.3(NF1):c.256del (p.Ile86fs)
|
|
|
|
NM_001042492.3(NF1):c.2579del (p.Leu860fs)
|
|
|
|
NM_001042492.3(NF1):c.2589T>G (p.Tyr863Ter)
|
rs587782814
|
|
|
NM_001042492.3(NF1):c.2589_2592del (p.Ser864fs)
|
rs876658207
|
|
|
NM_001042492.3(NF1):c.2594del (p.Pro865fs)
|
|
|
|
NM_001042492.3(NF1):c.2596_2600dup (p.Met867fs)
|
rs2067069052
|
|
|
NM_001042492.3(NF1):c.2598del (p.Met867fs)
|
|
|
|
NM_001042492.3(NF1):c.2599_2600dup (p.Met867fs)
|
|
|
|
NM_001042492.3(NF1):c.2604dup (p.Pro869fs)
|
rs878853877
|
|
|
NM_001042492.3(NF1):c.2607del (p.Val870fs)
|
|
|
|
NM_001042492.3(NF1):c.2607dup (p.Val870fs)
|
|
|
|
NM_001042492.3(NF1):c.260dup (p.Leu87fs)
|
|
|
|
NM_001042492.3(NF1):c.2614G>T (p.Glu872Ter)
|
rs2151429255
|
|
|
NM_001042492.3(NF1):c.2617C>G (p.Arg873Gly)
|
rs199474739
|
|
|
NM_001042492.3(NF1):c.2619_2622dup (p.Gly875Ter)
|
rs1597715477
|
|
|
NM_001042492.3(NF1):c.2619dup (p.Lys874Ter)
|
rs1555614284
|
|
|
NM_001042492.3(NF1):c.2620A>T (p.Lys874Ter)
|
|
|
|
NM_001042492.3(NF1):c.2621_2634dup (p.Ser879delinsArgValLeuTer)
|
rs1597715490
|
|
|
NM_001042492.3(NF1):c.2622_2623insA (p.Gly875fs)
|
rs587781933
|
|
|
NM_001042492.3(NF1):c.2622_2629del (p.Lys874fs)
|
rs1567848976
|
|
|
NM_001042492.3(NF1):c.2626del (p.Ser876fs)
|
rs770417659
|
|
|
NM_001042492.3(NF1):c.2626dup (p.Ser876fs)
|
rs770417659
|
|
|
NM_001042492.3(NF1):c.2636C>G (p.Ser879Ter)
|
|
|
|
NM_001042492.3(NF1):c.2638_2650del (p.Val880fs)
|
|
|
|
NM_001042492.3(NF1):c.2639_2640dup (p.Met881Ter)
|
rs2151429322
|
|
|
NM_001042492.3(NF1):c.2648C>A (p.Ser883Ter)
|
rs2151429346
|
|
|
NM_001042492.3(NF1):c.2648C>G (p.Ser883Ter)
|
|
|
|
NM_001042492.3(NF1):c.2650G>T (p.Glu884Ter)
|
|
|
|
NM_001042492.3(NF1):c.2650_2657del (p.Glu884fs)
|
rs2151429354
|
|
|
NM_001042492.3(NF1):c.2654del (p.Gly885fs)
|
rs2151429364
|
|
|
NM_001042492.3(NF1):c.2665dup (p.Thr889fs)
|
rs886041348
|
|
|
NM_001042492.3(NF1):c.2668_2677del (p.Pro890fs)
|
rs1555614293
|
|
|
NM_001042492.3(NF1):c.266dup (p.Leu90fs)
|
|
|
|
NM_001042492.3(NF1):c.2673_2674insT (p.Ser892Ter)
|
|
|
|
NM_001042492.3(NF1):c.2674del (p.Ser892fs)
|
rs1555614296
|
|
|
NM_001042492.3(NF1):c.2679del (p.Lys893fs)
|
rs2067071059
|
|
|
NM_001042492.3(NF1):c.2681T>C (p.Phe894Ser)
|
rs1282493551
|
|
|
NM_001042492.3(NF1):c.2682del (p.Phe894fs)
|
|
|
|
NM_001042492.3(NF1):c.2693T>C (p.Leu898Pro)
|
rs199474786
|
|
|
NM_001042492.3(NF1):c.2693T>G (p.Leu898Arg)
|
rs199474786
|
|
|
NM_001042492.3(NF1):c.2695_2738dup (p.Ile913_Arg914insCysProTer)
|
rs1597715646
|
|
|
NM_001042492.3(NF1):c.269T>C (p.Leu90Pro)
|
rs1555605393
|
|
|
NM_001042492.3(NF1):c.2700dup (p.Met902fs)
|
rs2151429472
|
|
|
NM_001042492.3(NF1):c.2702T>G (p.Leu901Ter)
|
rs1597715649
|
|
|
NM_001042492.3(NF1):c.2702del (p.Ser900_Leu901insTer)
|
|
|
|
NM_001042492.3(NF1):c.2704dup (p.Met902fs)
|
|
|
|
NM_001042492.3(NF1):c.2705del (p.Met902fs)
|
rs2067071786
|
|
|
NM_001042492.3(NF1):c.2709G>A (p.Val903=)
|
rs771820789
|
|
|
NM_001042492.3(NF1):c.2710T>A (p.Cys904Ser)
|
rs2151429494
|
|
|
NM_001042492.3(NF1):c.2710dup (p.Cys904fs)
|
rs1555614310
|
|
|
NM_001042492.3(NF1):c.2716_2770dup (p.Glu924delinsAlaTer)
|
|
|
|
NM_001042492.3(NF1):c.271G>T (p.Glu91Ter)
|
|
|
|
NM_001042492.3(NF1):c.2721del (p.Val909fs)
|
rs2151429516
|
|
|
NM_001042492.3(NF1):c.2724del (p.Val909fs)
|
rs2067072110
|
|
|
NM_001042492.3(NF1):c.2724dup (p.Val909fs)
|
rs2067072110
|
|
|
NM_001042492.3(NF1):c.2726_2727insTAGGACTACAAATACGGACCAATGTTAAGGATCTGGTTGGTCTAGAATTGAGTCCTGCTC (p.Val909_Gly910insArgThrThrAsnThrAspGlnCysTer)
|
rs2151429528
|
|
|
NM_001042492.3(NF1):c.2728_2729del (p.Gly910fs)
|
rs1555614313
|
|
|
NM_001042492.3(NF1):c.2729del (p.Gly910fs)
|
rs1555614313
|
|
|
NM_001042492.3(NF1):c.2729dup (p.Leu911fs)
|
rs1555614313
|
|
|
NM_001042492.3(NF1):c.2734C>T (p.Gln912Ter)
|
rs1597715673
|
|
|
NM_001042492.3(NF1):c.2742del (p.Thr915fs)
|
|
|
|
NM_001042492.3(NF1):c.2747del (p.Asn916fs)
|
|
|
|
NM_001042492.3(NF1):c.2748dup (p.Val917fs)
|
rs2067072694
|
|
|
NM_001042492.3(NF1):c.274A>T (p.Lys92Ter)
|
|
|
|
NM_001042492.3(NF1):c.2752A>T (p.Lys918Ter)
|
|
|
|
NM_001042492.3(NF1):c.2753del (p.Lys918fs)
|
rs1131691078
|
|
|
NM_001042492.3(NF1):c.2756del (p.Asp919fs)
|
rs2151429593
|
|
|
NM_001042492.3(NF1):c.2762del (p.Val921fs)
|
|
|
|
NM_001042492.3(NF1):c.2764G>A (p.Gly922Ser)
|
rs1135402831
|
|
|
NM_001042492.3(NF1):c.2765del (p.Gly922fs)
|
rs2067073056
|
|
|
NM_001042492.3(NF1):c.276del (p.Lys92fs)
|
|
|
|
NM_001042492.3(NF1):c.276dup (p.Cys93fs)
|
|
|
|
NM_001042492.3(NF1):c.2772del (p.Glu924fs)
|
|
|
|
NM_001042492.3(NF1):c.2773_2774dup (p.Leu925fs)
|
|
|
|
NM_001042492.3(NF1):c.2774T>A (p.Leu925Ter)
|
rs2067073241
|
|
|
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.2786T>G (p.Leu929Arg)
|
rs1555614338
|
|
|
NM_001042492.3(NF1):c.2790T>G (p.Tyr930Ter)
|
rs1135402832
|
|
|
NM_001042492.3(NF1):c.2798T>C (p.Leu933Pro)
|
rs1555614342
|
|
|
NM_001042492.3(NF1):c.279T>A (p.Cys93Ter)
|
rs1597629882
|
|
|
NM_001042492.3(NF1):c.279T>G (p.Cys93Trp)
|
rs1597629882
|
|
|
NM_001042492.3(NF1):c.2800_2801insGT (p.Phe934fs)
|
rs2067073865
|
|
|
NM_001042492.3(NF1):c.2802del (p.Phe934fs)
|
rs1555614343
|
|
|
NM_001042492.3(NF1):c.2802dup (p.Asn935Ter)
|
rs1555614343
|
|
|
NM_001042492.3(NF1):c.2803_2804dup (p.Asn935fs)
|
|
|
|
NM_001042492.3(NF1):c.2810T>A (p.Leu937Ter)
|
rs1567849184
|
|
|
NM_001042492.3(NF1):c.2810del (p.Lys936_Leu937insTer)
|
rs2067074098
|
|
|
NM_001042492.3(NF1):c.2812_2813insGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACCTAGGGAGGCAGAGGCAGGAGCATCTAGAGAACACGAGAACCAGACCATCATANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAACAAATTGA (p.Lys938delinsArgAlaGlyArgGlyGlySerArgLeuTer)
|
rs2151429717
|
|
|
NM_001042492.3(NF1):c.2815_2816insG (p.Asn939fs)
|
rs2151429753
|
|
|
NM_001042492.3(NF1):c.2816del (p.Asn939fs)
|
rs2151429750
|
|
|
NM_001042492.3(NF1):c.281T>G (p.Leu94Arg)
|
rs1597629884
|
|
|
NM_001042492.3(NF1):c.2820_2826del (p.Ile941fs)
|
rs1597715824
|
|
|
NM_001042492.3(NF1):c.2823del (p.Ser942fs)
|
rs2067074423
|
|
|
NM_001042492.3(NF1):c.2824del (p.Ser942fs)
|
rs2067074457
|
|
|
NM_001042492.3(NF1):c.2825_2847del (p.Ser942fs)
|
|
|
|
NM_001042492.3(NF1):c.2827A>T (p.Lys943Ter)
|
rs1567849199
|
|
|
NM_001042492.3(NF1):c.2827_2828del (p.Lys943fs)
|
|
|
|
NM_001042492.3(NF1):c.2829dup (p.Phe944fs)
|
|
|
|
NM_001042492.3(NF1):c.282del (p.Ala95fs)
|
rs1555605404
|
|
|
NM_001042492.3(NF1):c.2831_2832insAAAA (p.Phe944fs)
|
rs2151429795
|
|
|
NM_001042492.3(NF1):c.2834_2835del (p.Phe944_Phe945insTer)
|
rs1567849208
|
|
|
NM_001042492.3(NF1):c.2835del (p.Phe945fs)
|
rs1567849208
|
|
|
NM_001042492.3(NF1):c.2835dup (p.Asp946Ter)
|
rs1567849208
|
|
|
NM_001042492.3(NF1):c.2839del (p.Ser947fs)
|
|
|
|
NM_001042492.3(NF1):c.2839dup (p.Ser947fs)
|
|
|
|
NM_001042492.3(NF1):c.2842C>T (p.Gln948Ter)
|
rs1567849237
|
|
|
NM_001042492.3(NF1):c.2842del (p.Gln948fs)
|
rs1555614354
|
|
|
NM_001042492.3(NF1):c.2846dup (p.Gln950fs)
|
rs1555614358
|
|
|
NM_001042492.3(NF1):c.2847_2850+1del
|
rs2151429826
|
|
|
NM_001042492.3(NF1):c.2848C>T (p.Gln950Ter)
|
rs1060500357
|
|
|
NM_001042492.3(NF1):c.2848del (p.Gln950fs)
|
rs1135402833
|
|
|
NM_001042492.3(NF1):c.284del (p.Ala95fs)
|
rs1597629895
|
|
|
NM_001042492.3(NF1):c.284dup (p.Gly96fs)
|
rs2143646665
|
|
|
NM_001042492.3(NF1):c.2850+1G>A
|
rs1131691122
|
|
|
NM_001042492.3(NF1):c.2850+1G>C
|
|
|
|
NM_001042492.3(NF1):c.2850+1G>T
|
rs1131691122
|
|
|
NM_001042492.3(NF1):c.2850+2T>C
|
rs1597715880
|
|
|
NM_001042492.3(NF1):c.2850+2T>G
|
rs1597715880
|
|
|
NM_001042492.3(NF1):c.2850G>A (p.Gln950=)
|
rs863224446
|
|
|
NM_001042492.3(NF1):c.2851-151_2990+121dup
|
rs1555614386
|
|
|
NM_001042492.3(NF1):c.2851-1G>A
|
rs1597716274
|
|
|
NM_001042492.3(NF1):c.2851-1G>C
|
rs1597716274
|
|
|
NM_001042492.3(NF1):c.2851-1G>T
|
rs1597716274
|
|
|
NM_001042492.3(NF1):c.2851-2A>G
|
|
|
|
NM_001042492.3(NF1):c.2851-2A>T
|
rs2151430455
|
|
|
NM_001042492.3(NF1):c.2851-6_2851-3del
|
rs1597716256
|
|
|
NM_001042492.3(NF1):c.2851G>T (p.Val951Phe)
|
rs1597716277
|
|
|
NM_001042492.3(NF1):c.2855T>G (p.Leu952Ter)
|
rs2067082634
|
|
|
NM_001042492.3(NF1):c.2855del (p.Leu952fs)
|
|
|
|
NM_001042492.3(NF1):c.2856del (p.Leu952fs)
|
rs2151430476
|
|
|
NM_001042492.3(NF1):c.2858T>A (p.Leu953Ter)
|
rs2151430481
|
|
|
NM_001042492.3(NF1):c.2862_2867del (p.Asp955_Thr956del)
|
|
|
|
NM_001042492.3(NF1):c.2862dup (p.Asp955Ter)
|
|
|
|
NM_001042492.3(NF1):c.2866dup (p.Thr956fs)
|
rs1555614418
|
|
|
NM_001042492.3(NF1):c.2868_2873del (p.Asn957_Thr958del)
|
rs2151430498
|
|
|
NM_001042492.3(NF1):c.2870A>T (p.Asn957Ile)
|
rs1135402834
|
|
|
NM_001042492.3(NF1):c.2870del (p.Asn957fs)
|
rs1555614423
|
|
|
NM_001042492.3(NF1):c.2872dup (p.Thr958fs)
|
|
|
|
NM_001042492.3(NF1):c.2875C>T (p.Gln959Ter)
|
rs2151430537
|
|
|
NM_001042492.3(NF1):c.288+1137C>T
|
|
|
|
NM_001042492.3(NF1):c.288+1G>A
|
rs1567816131
|
|
|
NM_001042492.3(NF1):c.288+1G>C
|
rs1567816131
|
|
|
NM_001042492.3(NF1):c.288+1G>T
|
rs1567816131
|
|
|
NM_001042492.3(NF1):c.288+1del
|
rs1057519370
|
|
|
NM_001042492.3(NF1):c.288+2T>A
|
rs1555605406
|
|
|
NM_001042492.3(NF1):c.288+2T>C
|
rs1555605406
|
|
|
NM_001042492.3(NF1):c.288+2T>G
|
|
|
|
NM_001042492.3(NF1):c.288+4A>G
|
rs781459468
|
|
|
NM_001042492.3(NF1):c.288+5G>A
|
rs1555605409
|
|
|
NM_001042492.3(NF1):c.288+5G>C
|
rs1555605409
|
|
|
NM_001042492.3(NF1):c.288+5G>T
|
rs1555605409
|
|
|
NM_001042492.3(NF1):c.2883del (p.Glu962fs)
|
rs2067083151
|
|
|
NM_001042492.3(NF1):c.2884G>T (p.Glu962Ter)
|
|
|
|
NM_001042492.3(NF1):c.2887C>T (p.Gln963Ter)
|
rs876660444
|
|
|
NM_001042492.3(NF1):c.288_288+2del
|
rs2143646778
|
|
|
NM_001042492.3(NF1):c.289-1G>A
|
|
|
|
NM_001042492.3(NF1):c.289-2A>G
|
rs2143670119
|
|
|
NM_001042492.3(NF1):c.289-6T>G
|
rs757074803
|
|
|
NM_001042492.3(NF1):c.2890del (p.Thr964fs)
|
rs1555614437
|
|
|
NM_001042492.3(NF1):c.2892dup (p.Ile965fs)
|
rs2067083389
|
|
|
NM_001042492.3(NF1):c.2899dup (p.Ile967fs)
|
rs2151430620
|
|
|
NM_001042492.3(NF1):c.289C>T (p.Gln97Ter)
|
rs1597635615
|
|
|
NM_001042492.3(NF1):c.2900dup (p.Met968fs)
|
rs2067083695
|
|
|
NM_001042492.3(NF1):c.2906del (p.Lys969fs)
|
|
|
|
NM_001042492.3(NF1):c.2913dup (p.Leu972fs)
|
rs2151430647
|
|
|
NM_001042492.3(NF1):c.2918del (p.Asp973fs)
|
|
|
|
NM_001042492.3(NF1):c.2921dup (p.Asn974fs)
|
rs2151430666
|
|
|
NM_001042492.3(NF1):c.2929G>T (p.Glu977Ter)
|
rs2151430686
|
|
|
NM_001042492.3(NF1):c.2934del (p.Ser979fs)
|
rs1555614448
|
|
|
NM_001042492.3(NF1):c.2935del (p.Ser979fs)
|
rs2151430702
|
|
|
NM_001042492.3(NF1):c.2944del (p.His982fs)
|
rs2151430726
|
|
|
NM_001042492.3(NF1):c.2947_2948del (p.Leu983fs)
|
rs1597716378
|
|
|
NM_001042492.3(NF1):c.2947del (p.His982_Leu983insTer)
|
rs1597716380
|
|
|
NM_001042492.3(NF1):c.2952del (p.Gln985fs)
|
rs1555614453
|
|
|
NM_001042492.3(NF1):c.2953C>T (p.Gln985Ter)
|
rs1555614455
|
|
|
NM_001042492.3(NF1):c.2957del (p.Ala986fs)
|
rs2151430768
|
|
|
NM_001042492.3(NF1):c.295A>T (p.Lys99Ter)
|
rs2065791967
|
|
|
NM_001042492.3(NF1):c.2964del (p.Ile988fs)
|
rs2067084803
|
|
|
NM_001042492.3(NF1):c.2969_2970dup (p.Met991fs)
|
rs1555614458
|
|
|
NM_001042492.3(NF1):c.2970_2971del (p.Met991fs)
|
rs1597716432
|
|
|
NM_001042492.3(NF1):c.2970_2972del (p.Met992del)
|
rs267606606
|
|
|
NM_001042492.3(NF1):c.2978T>A (p.Leu993Ter)
|
rs1555614460
|
|
|
NM_001042492.3(NF1):c.2978T>G (p.Leu993Ter)
|
rs1555614460
|
|
|
NM_001042492.3(NF1):c.2986_2987del (p.Val996fs)
|
rs2151430843
|
|
|
NM_001042492.3(NF1):c.298del (p.Asp100fs)
|
rs1567817841
|
|
|
NM_001042492.3(NF1):c.2990+1G>A
|
rs1135402836
|
|
|
NM_001042492.3(NF1):c.2990+1G>C
|
rs1135402836
|
|
|
NM_001042492.3(NF1):c.2990+1G>T
|
rs1135402836
|
|
|
NM_001042492.3(NF1):c.2990+2T>C
|
rs2151430861
|
|
|
NM_001042492.3(NF1):c.2990+5G>A
|
rs1555614464
|
|
|
NM_001042492.3(NF1):c.2990G>A (p.Arg997Lys)
|
rs1555614462
|
|
|
NM_001042492.3(NF1):c.2991-11del
|
rs1597716765
|
|
|
NM_001042492.3(NF1):c.2991-1G>A
|
rs1060500273
|
|
|
NM_001042492.3(NF1):c.2991-1G>C
|
rs1060500273
|
|
|
NM_001042492.3(NF1):c.2991-1G>T
|
rs1060500273
|
|
|
NM_001042492.3(NF1):c.2991-2A>C
|
rs1555614495
|
|
|
NM_001042492.3(NF1):c.2991-2A>G
|
rs1555614495
|
|
|
NM_001042492.3(NF1):c.2991-2A>T
|
rs1555614495
|
|
|
NM_001042492.3(NF1):c.2991-8_2996del
|
|
|
|
NM_001042492.3(NF1):c.2993dup (p.Tyr998Ter)
|
rs2151431474
|
|
|
NM_001042492.3(NF1):c.2994T>A (p.Tyr998Ter)
|
|
|
|
NM_001042492.3(NF1):c.2994T>G (p.Tyr998Ter)
|
|
|
|
NM_001042492.3(NF1):c.2999G>C (p.Arg1000Pro)
|
rs753082620
|
|
|
NM_001042492.3(NF1):c.3006dup (p.Gly1003fs)
|
rs2151431501
|
|
|
NM_001042492.3(NF1):c.3007_3008delinsTA (p.Gly1003Ter)
|
rs1597716834
|
|
|
NM_001042492.3(NF1):c.3010_3017dup (p.His1007fs)
|
|
|
|
NM_001042492.3(NF1):c.3016del (p.Val1006fs)
|
|
|
|
NM_001042492.3(NF1):c.3019del (p.His1007fs)
|
|
|
|
NM_001042492.3(NF1):c.3027del (p.Gln1010fs)
|
rs1135402837
|
|
|
NM_001042492.3(NF1):c.3028C>T (p.Gln1010Ter)
|
rs2151431557
|
|
|
NM_001042492.3(NF1):c.3032_3033del (p.Ile1011fs)
|
rs2151431569
|
|
|
NM_001042492.3(NF1):c.3034A>T (p.Lys1012Ter)
|
rs2067091045
|
|
|
NM_001042492.3(NF1):c.3037del (p.Thr1013fs)
|
rs1135402838
|
|
|
NM_001042492.3(NF1):c.3040A>T (p.Lys1014Ter)
|
rs1135402839
|
|
|
NM_001042492.3(NF1):c.3043del (p.Leu1015fs)
|
rs1555614514
|
|
|
NM_001042492.3(NF1):c.3044T>C (p.Leu1015Pro)
|
rs1131691112
|
|
|
NM_001042492.3(NF1):c.3044T>G (p.Leu1015Arg)
|
rs1131691112
|
|
|
NM_001042492.3(NF1):c.3046T>C (p.Cys1016Arg)
|
rs878853880
|
|
|
NM_001042492.3(NF1):c.3046dup (p.Cys1016fs)
|
rs2151431612
|
|
|
NM_001042492.3(NF1):c.3047G>A (p.Cys1016Tyr)
|
rs2067091492
|
|
|
NM_001042492.3(NF1):c.3047_3048del (p.Cys1016fs)
|
rs1597716910
|
|
|
NM_001042492.3(NF1):c.3047_3048insGCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCCCCCTCCCTCTCCCTCTCCCTCTCCCTCTACCTCCACGGTCTCCCTCTGATGCCGAGCCANNNNNNNNNNAGAAACACCCAAGAATGATCAATAAAAAAAAAATAAATTAATTAAAAAAAAAAAAAAAAAAAAAAAAAACGAAACTGTG (p.Cys1016delinsTrpLeuSerLeuSerLeuSerLeuSerLeuSerLeuSerLeuProLeuProLeuProLeuProLeuProLeuProProArgSerProSerAspAlaGluProXaaXaaXaaXaaLysHisProArgMetIleAsnLysLysLysIleAsnTer)
|
|
|
|
NM_001042492.3(NF1):c.3048T>A (p.Cys1016Ter)
|
rs1135402840
|
|
|
NM_001042492.3(NF1):c.3049C>T (p.Gln1017Ter)
|
rs2067091604
|
|
|
NM_001042492.3(NF1):c.304del (p.Thr101_Met102insTer)
|
|
|
|
NM_001042492.3(NF1):c.3051del (p.Gln1017fs)
|
rs2067091646
|
|
|
NM_001042492.3(NF1):c.3053T>A (p.Leu1018Ter)
|
rs1597716924
|
|
|
NM_001042492.3(NF1):c.3053T>G (p.Leu1018Ter)
|
|
|
|
NM_001042492.3(NF1):c.3054del (p.Val1019fs)
|
|
|
|
NM_001042492.3(NF1):c.3058G>T (p.Glu1020Ter)
|
rs2067091885
|
|
|
NM_001042492.3(NF1):c.3058_3085dup (p.Leu1029delinsArgSerAsnAspGlyLysGluArgTer)
|
|
|
|
NM_001042492.3(NF1):c.3058del (p.Glu1020fs)
|
rs2067091912
|
|
|
NM_001042492.3(NF1):c.3060del (p.Glu1020_Val1021insTer)
|
rs1555614521
|
|
|
NM_001042492.3(NF1):c.3064del (p.Val1021_Met1022insTer)
|
rs878853881
|
|
|
NM_001042492.3(NF1):c.3068dup (p.Met1023fs)
|
|
|
|
NM_001042492.3(NF1):c.3073del (p.Arg1025fs)
|
rs2151431675
|
|
|
NM_001042492.3(NF1):c.3074_3096dup (p.Gln1033fs)
|
rs1555614527
|
|
|
NM_001042492.3(NF1):c.3075del (p.Arg1026fs)
|
rs1555614526
|
|
|
NM_001042492.3(NF1):c.3076A>T (p.Arg1026Ter)
|
rs1555614529
|
|
|
NM_001042492.3(NF1):c.307A>T (p.Arg103Ter)
|
|
|
|
NM_001042492.3(NF1):c.3082_3088del (p.Asp1028fs)
|
|
|
|
NM_001042492.3(NF1):c.3088_3089del (p.Ser1030fs)
|
rs2067092561
|
|
|
NM_001042492.3(NF1):c.3088_3089dup (p.Phe1031fs)
|
rs2067092561
|
|
|
NM_001042492.3(NF1):c.3089C>A (p.Ser1030Ter)
|
|
|
|
NM_001042492.3(NF1):c.3089C>G (p.Ser1030Ter)
|
rs1567849864
|
|
|
NM_001042492.3(NF1):c.3094del (p.Cys1032fs)
|
rs1555614535
|
|
|
NM_001042492.3(NF1):c.3094dup (p.Cys1032fs)
|
rs1555614535
|
|
|
NM_001042492.3(NF1):c.3096C>A (p.Cys1032Ter)
|
rs747965344
|
|
|
NM_001042492.3(NF1):c.3097C>T (p.Gln1033Ter)
|
rs1131691104
|
|
|
NM_001042492.3(NF1):c.3098_3113del (p.Gln1033fs)
|
|
|
|
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.3104T>G (p.Met1035Arg)
|
rs137854553
|
|
|
NM_001042492.3(NF1):c.3104del (p.Met1035fs)
|
rs2151431751
|
|
|
NM_001042492.3(NF1):c.3106A>T (p.Lys1036Ter)
|
rs1567849891
|
|
|
NM_001042492.3(NF1):c.3108del (p.Lys1036fs)
|
|
|
|
NM_001042492.3(NF1):c.3111del (p.Phe1037fs)
|
rs1131691127
|
|
|
NM_001042492.3(NF1):c.3111dup (p.Arg1038Ter)
|
rs1131691127
|
|
|
NM_001042492.3(NF1):c.3113+1G>A
|
rs267606599
|
|
|
NM_001042492.3(NF1):c.3113+1G>C
|
rs267606599
|
|
|
NM_001042492.3(NF1):c.3113+1G>T
|
rs267606599
|
|
|
NM_001042492.3(NF1):c.3113+2T>A
|
rs876658997
|
|
|
NM_001042492.3(NF1):c.3113+2T>C
|
rs876658997
|
|
|
NM_001042492.3(NF1):c.3113+2T>G
|
rs876658997
|
|
|
NM_001042492.3(NF1):c.3113+2_3113+4del
|
rs2151431779
|
|
|
NM_001042492.3(NF1):c.3113+2dup
|
|
|
|
NM_001042492.3(NF1):c.3113+5G>A
|
rs1555614549
|
|
|
NM_001042492.3(NF1):c.3113+5G>C
|
rs1555614549
|
|
|
NM_001042492.3(NF1):c.3113G>C (p.Arg1038Thr)
|
rs1060500313
|
|
|
NM_001042492.3(NF1):c.3114-1G>C
|
rs1555614611
|
|
|
NM_001042492.3(NF1):c.3114-3T>G
|
rs773097190
|
|
|
NM_001042492.3(NF1):c.3114-8T>G
|
rs1597717471
|
|
|
NM_001042492.3(NF1):c.311T>G (p.Leu104Ter)
|
rs1057521097
|
|
|
NM_001042492.3(NF1):c.311_312del (p.Arg103_Leu104insTer)
|
rs1555606053
|
|
|
NM_001042492.3(NF1):c.3122dup (p.Met1041fs)
|
rs2151432363
|
|
|
NM_001042492.3(NF1):c.3127G>T (p.Glu1043Ter)
|
|
|
|
NM_001042492.3(NF1):c.312del (p.Asp105fs)
|
|
|
|
NM_001042492.3(NF1):c.3130_3131insC (p.Tyr1044fs)
|
|
|
|
NM_001042492.3(NF1):c.3131dup (p.Tyr1044Ter)
|
|
|
|
NM_001042492.3(NF1):c.3132C>A (p.Tyr1044Ter)
|
rs779047683
|
|
|
NM_001042492.3(NF1):c.3137C>G (p.Thr1046Arg)
|
rs2151432404
|
|
|
NM_001042492.3(NF1):c.3138_3141del (p.Asp1047fs)
|
|
|
|
NM_001042492.3(NF1):c.3139_3140del (p.Asp1047fs)
|
rs863224490
|
|
|
NM_001042492.3(NF1):c.3141del (p.Trp1048fs)
|
rs2151432416
|
|
|
NM_001042492.3(NF1):c.3142T>C (p.Trp1048Arg)
|
rs1555614634
|
|
|
NM_001042492.3(NF1):c.3142T>G (p.Trp1048Gly)
|
rs1555614634
|
|
|
NM_001042492.3(NF1):c.3143G>A (p.Trp1048Ter)
|
rs2151432418
|
|
|
NM_001042492.3(NF1):c.3144G>A (p.Trp1048Ter)
|
rs1555614635
|
|
|
NM_001042492.3(NF1):c.3145del (p.Val1049fs)
|
|
|
|
NM_001042492.3(NF1):c.3151G>T (p.Gly1051Ter)
|
rs2067101855
|
|
|
NM_001042492.3(NF1):c.3152del (p.Gly1051fs)
|
rs2151432442
|
|
|
NM_001042492.3(NF1):c.3158C>A (p.Ser1053Ter)
|
rs1597717610
|
|
|
NM_001042492.3(NF1):c.3158C>G (p.Ser1053Ter)
|
rs1597717610
|
|
|
NM_001042492.3(NF1):c.3161_3165del (p.Asn1054fs)
|
rs1555614642
|
|
|
NM_001042492.3(NF1):c.3163C>T (p.Gln1055Ter)
|
rs866069972
|
|
|
NM_001042492.3(NF1):c.316del (p.Glu106fs)
|
rs2143670786
|
|
|
NM_001042492.3(NF1):c.3183_3189del (p.Lys1062fs)
|
|
|
|
NM_001042492.3(NF1):c.3186del (p.Lys1062fs)
|
rs1597717672
|
|
|
NM_001042492.3(NF1):c.3186dup (p.Cys1063fs)
|
rs1597717672
|
|
|
NM_001042492.3(NF1):c.3187_3188insTA (p.Cys1063fs)
|
rs1597717684
|
|
|
NM_001042492.3(NF1):c.3189T>A (p.Cys1063Ter)
|
rs1135402841
|
|
|
NM_001042492.3(NF1):c.3192del (p.Thr1065fs)
|
|
|
|
NM_001042492.3(NF1):c.3197+1G>A
|
rs1555614653
|
|
|
NM_001042492.3(NF1):c.3197+1G>T
|
rs1555614653
|
|
|
NM_001042492.3(NF1):c.3197+2T>C
|
|
|
|
NM_001042492.3(NF1):c.3197+2T>G
|
rs2151432549
|
|
|
NM_001042492.3(NF1):c.3197G>C (p.Arg1066Thr)
|
rs1555614652
|
|
|
NM_001042492.3(NF1):c.3198-1G>A
|
|
|
|
NM_001042492.3(NF1):c.3198-1G>C
|
|
|
|
NM_001042492.3(NF1):c.3198-1G>T
|
rs1223905930
|
|
|
NM_001042492.3(NF1):c.3198-2A>C
|
|
|
|
NM_001042492.3(NF1):c.3198-2A>G
|
rs1131691089
|
|
|
NM_001042492.3(NF1):c.3198-2A>T
|
rs1131691089
|
|
|
NM_001042492.3(NF1):c.3198-314G>A
|
rs2067116490
|
|
|
NM_001042492.3(NF1):c.319del (p.Thr107fs)
|
rs1131691116
|
|
|
NM_001042492.3(NF1):c.3203del (p.Leu1068fs)
|
rs2151433657
|
|
|
NM_001042492.3(NF1):c.3205del (p.Asp1069fs)
|
|
|
|
NM_001042492.3(NF1):c.3207_3208delinsTT (p.Gln1070Ter)
|
rs2067122084
|
|
|
NM_001042492.3(NF1):c.3208C>T (p.Gln1070Ter)
|
rs786202023
|
|
|
NM_001042492.3(NF1):c.3211G>C (p.Ala1071Pro)
|
rs2067122183
|
|
|
NM_001042492.3(NF1):c.3212del (p.Ala1071fs)
|
rs1597718735
|
|
|
NM_001042492.3(NF1):c.3214dup (p.Ser1072fs)
|
rs1555614825
|
|
|
NM_001042492.3(NF1):c.3215_3216del (p.Ser1072fs)
|
rs2067122345
|
|
|
NM_001042492.3(NF1):c.3220G>T (p.Glu1074Ter)
|
rs781567020
|
|
|
NM_001042492.3(NF1):c.3222_3223del (p.Glu1074fs)
|
rs2067122558
|
|
|
NM_001042492.3(NF1):c.3225dup (p.Val1076fs)
|
|
|
|
NM_001042492.3(NF1):c.3226_3236del (p.Val1076fs)
|
|
|
|
NM_001042492.3(NF1):c.3227dup (p.Val1077fs)
|
rs1597718765
|
|
|
NM_001042492.3(NF1):c.3230_3255del (p.Val1077fs)
|
|
|
|
NM_001042492.3(NF1):c.3232dup (p.Ser1078fs)
|
rs2151433720
|
|
|
NM_001042492.3(NF1):c.3233C>G (p.Ser1078Ter)
|
rs2067122696
|
|
|
NM_001042492.3(NF1):c.3239T>C (p.Leu1080Pro)
|
rs1555614833
|
|
|
NM_001042492.3(NF1):c.3243del (p.Gly1082fs)
|
rs2067122982
|
|
|
NM_001042492.3(NF1):c.324dup (p.Leu109fs)
|
|
|
|
NM_001042492.3(NF1):c.3250C>A (p.Pro1084Thr)
|
rs1555614848
|
|
|
NM_001042492.3(NF1):c.3250C>T (p.Pro1084Ser)
|
rs1555614848
|
|
|
NM_001042492.3(NF1):c.3250_3251dup (p.Gln1086fs)
|
rs1555614845
|
|
|
NM_001042492.3(NF1):c.3251C>G (p.Pro1084Arg)
|
rs1164081667
|
|
|
NM_001042492.3(NF1):c.3251del (p.Pro1084fs)
|
|
|
|
NM_001042492.3(NF1):c.3253_3254del (p.Leu1085fs)
|
|
|
|
NM_001042492.3(NF1):c.3256C>T (p.Gln1086Ter)
|
rs2067123355
|
|
|
NM_001042492.3(NF1):c.3257del (p.Gln1086fs)
|
|
|
|
NM_001042492.3(NF1):c.3260_3263dup (p.Glu1088delinsAspTer)
|
|
|
|
NM_001042492.3(NF1):c.3261dup (p.Glu1088Ter)
|
rs1555614851
|
|
|
NM_001042492.3(NF1):c.3262G>T (p.Glu1088Ter)
|
rs2151433803
|
|
|
NM_001042492.3(NF1):c.3262_3263del (p.Glu1088fs)
|
rs2067123493
|
|
|
NM_001042492.3(NF1):c.3270_3271insC (p.Asp1091fs)
|
rs2067123721
|
|
|
NM_001042492.3(NF1):c.3276del (p.Val1093fs)
|
rs2067123964
|
|
|
NM_001042492.3(NF1):c.3277G>A (p.Val1093Met)
|
rs1555614858
|
|
|
NM_001042492.3(NF1):c.3278T>A (p.Val1093Glu)
|
rs2067124037
|
|
|
NM_001042492.3(NF1):c.3280G>T (p.Glu1094Ter)
|
|
|
|
NM_001042492.3(NF1):c.3284T>A (p.Leu1095Ter)
|
|
|
|
NM_001042492.3(NF1):c.328del (p.Val110fs)
|
rs1567817865
|
|
|
NM_001042492.3(NF1):c.3297del (p.Lys1099fs)
|
rs2151433875
|
|
|
NM_001042492.3(NF1):c.3299C>A (p.Ser1100Ter)
|
rs2067124341
|
|
|
NM_001042492.3(NF1):c.3299C>G (p.Ser1100Ter)
|
rs2067124341
|
|
|
NM_001042492.3(NF1):c.3299dup (p.Gln1101fs)
|
|
|
|
NM_001042492.3(NF1):c.3301C>T (p.Gln1101Ter)
|
rs2151433888
|
|
|
NM_001042492.3(NF1):c.3301_3302del (p.Gln1101fs)
|
rs1555614866
|
|
|
NM_001042492.3(NF1):c.3305T>G (p.Leu1102Ter)
|
rs2067124493
|
|
|
NM_001042492.3(NF1):c.3309_3312del (p.Phe1103fs)
|
rs2151433902
|
|
|
NM_001042492.3(NF1):c.3312_3313insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCACAGTTATTTCTT (p.Lys1105delinsPhePhePhePhePhePheXaaXaaXaaXaaThrSerTer)
|
|
|
|
NM_001042492.3(NF1):c.3313A>T (p.Lys1105Ter)
|
rs1555614867
|
|
|
NM_001042492.3(NF1):c.3314+1G>A
|
rs767805288
|
|
|
NM_001042492.3(NF1):c.3314+1G>T
|
|
|
|
NM_001042492.3(NF1):c.3314+2T>A
|
rs863224445
|
|
|
NM_001042492.3(NF1):c.3314+2T>C
|
|
|
|
NM_001042492.3(NF1):c.3314+2T>G
|
rs863224445
|
|
|
NM_001042492.3(NF1):c.3315-10_3335del
|
rs2151434411
|
|
|
NM_001042492.3(NF1):c.3315-1G>A
|
rs1567850984
|
|
|
NM_001042492.3(NF1):c.3315-1G>C
|
rs1567850984
|
|
|
NM_001042492.3(NF1):c.3315-1G>T
|
|
|
|
NM_001042492.3(NF1):c.3315-2A>C
|
rs1555614914
|
|
|
NM_001042492.3(NF1):c.3315-2A>G
|
rs1555614914
|
|
|
NM_001042492.3(NF1):c.3315-3C>G
|
rs752318318
|
|
|
NM_001042492.3(NF1):c.3315-8T>G
|
rs764783865
|
|
|
NM_001042492.3(NF1):c.3317_3325del (p.Tyr1106_Thr1108del)
|
|
|
|
NM_001042492.3(NF1):c.3318C>A (p.Tyr1106Ter)
|
rs876659289
|
|
|
NM_001042492.3(NF1):c.3318C>G (p.Tyr1106Ter)
|
rs876659289
|
|
|
NM_001042492.3(NF1):c.3323del (p.Thr1108fs)
|
rs2151434456
|
|
|
NM_001042492.3(NF1):c.3324dup (p.Leu1109fs)
|
rs2151434460
|
|
|
NM_001042492.3(NF1):c.3326del (p.Leu1109fs)
|
rs2151434465
|
|
|
NM_001042492.3(NF1):c.3329_3332del (p.Leu1109_Phe1110insTer)
|
rs2067134264
|
|
|
NM_001042492.3(NF1):c.332_333dup (p.Gln112fs)
|
rs1597635722
|
|
|
NM_001042492.3(NF1):c.332_335del (p.Lys111fs)
|
rs1135402787
|
|
|
NM_001042492.3(NF1):c.3330_3333del (p.Phe1110fs)
|
|
|
|
NM_001042492.3(NF1):c.3331del (p.Phe1110_Met1111insTer)
|
rs2067134394
|
|
|
NM_001042492.3(NF1):c.3332_3333dup (p.Asn1112Ter)
|
|
|
|
NM_001042492.3(NF1):c.333del (p.Lys111fs)
|
rs1597635722
|
|
|
NM_001042492.3(NF1):c.333dup (p.Gln112fs)
|
rs1597635722
|
|
|
NM_001042492.3(NF1):c.3341T>A (p.Leu1114Ter)
|
|
|
|
NM_001042492.3(NF1):c.3347_3350del (p.Asp1116fs)
|
rs2067134697
|
|
|
NM_001042492.3(NF1):c.3349_3350del (p.Cys1117fs)
|
|
|
|
NM_001042492.3(NF1):c.334C>T (p.Gln112Ter)
|
rs1555606061
|
|
|
NM_001042492.3(NF1):c.3351_3355del (p.Cys1117_Glu1119delinsTer)
|
rs2151434514
|
|
|
NM_001042492.3(NF1):c.3352_3353del (p.Cys1117_Ser1118insTer)
|
|
|
|
NM_001042492.3(NF1):c.3353_3356del (p.Ser1118fs)
|
|
|
|
NM_001042492.3(NF1):c.3353del (p.Ser1118fs)
|
rs2151434527
|
|
|
NM_001042492.3(NF1):c.3355G>T (p.Glu1119Ter)
|
rs2151434532
|
|
|
NM_001042492.3(NF1):c.3361G>T (p.Glu1121Ter)
|
rs1567851029
|
|
|
NM_001042492.3(NF1):c.3361dup (p.Glu1121fs)
|
rs2151434549
|
|
|
NM_001042492.3(NF1):c.3367G>T (p.Glu1123Ter)
|
rs1555614940
|
|
|
NM_001042492.3(NF1):c.3370dup (p.Ser1124fs)
|
rs1597719471
|
|
|
NM_001042492.3(NF1):c.3376C>T (p.Gln1126Ter)
|
rs1555614947
|
|
|
NM_001042492.3(NF1):c.3380del (p.Thr1127fs)
|
rs1597719498
|
|
|
NM_001042492.3(NF1):c.3380dup (p.Gly1128fs)
|
rs2067135666
|
|
|
NM_001042492.3(NF1):c.3381_3382del (p.Gly1128fs)
|
rs1597719504
|
|
|
NM_001042492.3(NF1):c.3381del (p.Gly1128fs)
|
rs2151434592
|
|
|
NM_001042492.3(NF1):c.3383del (p.Gly1128fs)
|
|
|
|
NM_001042492.3(NF1):c.3384del (p.Gly1129fs)
|
rs1567851054
|
|
|
NM_001042492.3(NF1):c.338T>A (p.Leu113Ter)
|
rs2065792758
|
|
|
NM_001042492.3(NF1):c.338del (p.Leu113fs)
|
rs1597635740
|
|
|
NM_001042492.3(NF1):c.338dup (p.Leu113fs)
|
rs1597635740
|
|
|
NM_001042492.3(NF1):c.3392_3401del (p.Lys1131fs)
|
rs2067135965
|
|
|
NM_001042492.3(NF1):c.3395del (p.Arg1132fs)
|
|
|
|
NM_001042492.3(NF1):c.3398del (p.Gly1133fs)
|
|
|
|
NM_001042492.3(NF1):c.339del (p.Leu113fs)
|
rs1597635745
|
|
|
NM_001042492.3(NF1):c.339dup (p.Leu114fs)
|
rs2065792798
|
|
|
NM_001042492.3(NF1):c.3402_3405dup (p.Arg1136fs)
|
rs1597719535
|
|
|
NM_001042492.3(NF1):c.3408dup (p.Arg1137fs)
|
|
|
|
NM_001042492.3(NF1):c.3411del (p.Arg1137fs)
|
|
|
|
NM_001042492.3(NF1):c.3423del (p.Arg1142fs)
|
|
|
|
NM_001042492.3(NF1):c.3424_3425del (p.Arg1142fs)
|
|
|
|
NM_001042492.3(NF1):c.3424del (p.Arg1142fs)
|
|
|
|
NM_001042492.3(NF1):c.3426del (p.Arg1142fs)
|
|
|
|
NM_001042492.3(NF1):c.3427C>T (p.His1143Tyr)
|
rs1555614963
|
|
|
NM_001042492.3(NF1):c.3427_3436del (p.His1143fs)
|
|
|
|
NM_001042492.3(NF1):c.3429_3432dup (p.Thr1145fs)
|
rs1135402842
|
|
|
NM_001042492.3(NF1):c.3430dup (p.Cys1144fs)
|
|
|
|
NM_001042492.3(NF1):c.3431_3432dup (p.Thr1145fs)
|
rs1555614966
|
|
|
NM_001042492.3(NF1):c.3432T>A (p.Cys1144Ter)
|
rs2067136971
|
|
|
NM_001042492.3(NF1):c.3432_3442del (p.Thr1145fs)
|
|
|
|
NM_001042492.3(NF1):c.3436G>T (p.Val1146Phe)
|
rs201047812
|
|
|
NM_001042492.3(NF1):c.3442dup (p.Ala1148fs)
|
|
|
|
NM_001042492.3(NF1):c.3443C>A (p.Ala1148Glu)
|
rs2151434733
|
|
|
NM_001042492.3(NF1):c.3443del (p.Ala1148fs)
|
rs2067137324
|
|
|
NM_001042492.3(NF1):c.3445A>G (p.Met1149Val)
|
rs1187097568
|
|
|
NM_001042492.3(NF1):c.3446T>C (p.Met1149Thr)
|
rs1131691121
|
|
|
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.3447G>T (p.Met1149Ile)
|
rs1064794277
|
|
|
NM_001042492.3(NF1):c.3447_3448delinsTG (p.Met1149_Ser1150delinsIleAla)
|
rs2067137517
|
|
|
NM_001042492.3(NF1):c.3447_3448dup (p.Ser1150fs)
|
rs1597719619
|
|
|
NM_001042492.3(NF1):c.3448T>C (p.Ser1150Pro)
|
rs2067137547
|
|
|
NM_001042492.3(NF1):c.3449C>A (p.Ser1150Ter)
|
rs1555614972
|
|
|
NM_001042492.3(NF1):c.3449C>G (p.Ser1150Ter)
|
rs1555614972
|
|
|
NM_001042492.3(NF1):c.3452dup (p.Asn1151fs)
|
rs2067137617
|
|
|
NM_001042492.3(NF1):c.3455T>G (p.Leu1152Ter)
|
|
|
|
NM_001042492.3(NF1):c.3455_3456dup (p.Leu1153fs)
|
|
|
|
NM_001042492.3(NF1):c.3455_3458del (p.Leu1152fs)
|
rs2151434766
|
|
|
NM_001042492.3(NF1):c.3456dup (p.Leu1153fs)
|
rs1430634618
|
|
|
NM_001042492.3(NF1):c.3457_3460del (p.Leu1153fs)
|
rs1321848637
|
|
|
NM_001042492.3(NF1):c.345_349del (p.Glu116fs)
|
|
|
|
NM_001042492.3(NF1):c.3461A>T (p.Asn1154Ile)
|
rs371544233
|
|
|
NM_001042492.3(NF1):c.3461del (p.Asn1154fs)
|
|
|
|
NM_001042492.3(NF1):c.3461dup (p.Asn1154fs)
|
rs1597719643
|
|
|
NM_001042492.3(NF1):c.3467A>G (p.Asn1156Ser)
|
rs199474764
|
|
|
NM_001042492.3(NF1):c.346G>T (p.Glu116Ter)
|
rs2143671466
|
|
|
NM_001042492.3(NF1):c.3471_3473del (p.Asp1158del)
|
|
|
|
NM_001042492.3(NF1):c.3475_3476del (p.Ser1159fs)
|
rs2151434831
|
|
|
NM_001042492.3(NF1):c.3477del (p.Ser1159fs)
|
rs2151434843
|
|
|
NM_001042492.3(NF1):c.3477dup (p.Gly1160fs)
|
|
|
|
NM_001042492.3(NF1):c.3484dup (p.Met1162fs)
|
rs1555614977
|
|
|
NM_001042492.3(NF1):c.3486del (p.Met1162fs)
|
rs2151434866
|
|
|
NM_001042492.3(NF1):c.3494T>A (p.Ile1165Lys)
|
rs786204211
|
|
|
NM_001042492.3(NF1):c.3496+1G>A
|
rs2067138719
|
|
|
NM_001042492.3(NF1):c.3496+1G>C
|
rs2067138719
|
|
|
NM_001042492.3(NF1):c.3496+1G>T
|
|
|
|
NM_001042492.3(NF1):c.3496+2T>C
|
rs766143785
|
|
|
NM_001042492.3(NF1):c.3496+5G>C
|
rs786202564
|
|
|
NM_001042492.3(NF1):c.3496G>A (p.Gly1166Ser)
|
rs1597719704
|
|
|
NM_001042492.3(NF1):c.3496G>T (p.Gly1166Cys)
|
rs1597719704
|
|
|
NM_001042492.3(NF1):c.3497-1G>A
|
rs1555615004
|
|
|
NM_001042492.3(NF1):c.349del (p.Ile117fs)
|
rs2065792921
|
|
|
NM_001042492.3(NF1):c.3500T>G (p.Leu1167Ter)
|
rs786204253
|
|
|
NM_001042492.3(NF1):c.3502G>C (p.Gly1168Arg)
|
rs878853883
|
|
|
NM_001042492.3(NF1):c.3503del (p.Gly1168fs)
|
|
|
|
NM_001042492.3(NF1):c.3505T>A (p.Tyr1169Asn)
|
|
|
|
NM_001042492.3(NF1):c.3505dup (p.Tyr1169fs)
|
rs2067141195
|
|
|
NM_001042492.3(NF1):c.350dup (p.Cys118fs)
|
rs2143671563
|
|
|
NM_001042492.3(NF1):c.3514del (p.Asp1172fs)
|
rs876660580
|
|
|
NM_001042492.3(NF1):c.3520C>T (p.Gln1174Ter)
|
rs868450405
|
|
|
NM_001042492.3(NF1):c.3523A>G (p.Thr1175Ala)
|
rs2067141601
|
|
|
NM_001042492.3(NF1):c.3525_3526del (p.Arg1176fs)
|
rs1131691092
|
|
|
NM_001042492.3(NF1):c.3528_3544del (p.Arg1176fs)
|
rs2151435331
|
|
|
NM_001042492.3(NF1):c.3537del (p.Phe1179fs)
|
rs1555615026
|
|
|
NM_001042492.3(NF1):c.3538_3544del (p.Met1180fs)
|
rs2151435366
|
|
|
NM_001042492.3(NF1):c.3539T>G (p.Met1180Arg)
|
rs2067141977
|
|
|
NM_001042492.3(NF1):c.3541del (p.Glu1181fs)
|
|
|
|
NM_001042492.3(NF1):c.3544G>C (p.Val1182Leu)
|
rs1555615027
|
|
|
NM_001042492.3(NF1):c.3544G>T (p.Val1182Phe)
|
rs1555615027
|
|
|
NM_001042492.3(NF1):c.3545T>C (p.Val1182Ala)
|
rs2067142076
|
|
|
NM_001042492.3(NF1):c.3548T>G (p.Leu1183Arg)
|
rs1555615028
|
|
|
NM_001042492.3(NF1):c.354C>A (p.Cys118Ter)
|
rs768777585
|
|
|
NM_001042492.3(NF1):c.3551del (p.Thr1184fs)
|
rs2151435402
|
|
|
NM_001042492.3(NF1):c.3556del (p.Ile1186fs)
|
rs2151435407
|
|
|
NM_001042492.3(NF1):c.3557_3561del (p.Ile1186fs)
|
rs2151435421
|
|
|
NM_001042492.3(NF1):c.3559del (p.Leu1187fs)
|
|
|
|
NM_001042492.3(NF1):c.3561del (p.Gln1188fs)
|
|
|
|
NM_001042492.3(NF1):c.3562C>T (p.Gln1188Ter)
|
rs2067142295
|
|
|
NM_001042492.3(NF1):c.3562dup (p.Gln1188fs)
|
rs2151435433
|
|
|
NM_001042492.3(NF1):c.3563A>C (p.Gln1188Pro)
|
rs758419553
|
|
|
NM_001042492.3(NF1):c.3564_3585del (p.Gln1188fs)
|
rs2067142341
|
|
|
NM_001042492.3(NF1):c.3565C>T (p.Gln1189Ter)
|
rs878853884
|
|
|
NM_001042492.3(NF1):c.3565del (p.Gln1189fs)
|
rs2151435449
|
|
|
NM_001042492.3(NF1):c.3566A>G (p.Gln1189Arg)
|
rs752039618
|
|
|
NM_001042492.3(NF1):c.3567del (p.Gly1190fs)
|
rs1060500271
|
|
|
NM_001042492.3(NF1):c.3568G>A (p.Gly1190Ser)
|
rs1597719982
|
|
|
NM_001042492.3(NF1):c.3569G>A (p.Gly1190Asp)
|
rs1555615032
|
|
|
NM_001042492.3(NF1):c.3571A>T (p.Thr1191Ser)
|
rs1555615033
|
|
|
NM_001042492.3(NF1):c.3573_3574inv (p.Glu1192Ter)
|
|
|
|
NM_001042492.3(NF1):c.3574G>T (p.Glu1192Ter)
|
rs1442037817
|
|
|
NM_001042492.3(NF1):c.3578T>A (p.Phe1193Tyr)
|
rs199474780
|
|
|
NM_001042492.3(NF1):c.3578T>C (p.Phe1193Ser)
|
rs199474780
|
|
|
NM_001042492.3(NF1):c.3578T>G (p.Phe1193Cys)
|
rs199474780
|
|
|
NM_001042492.3(NF1):c.3579T>A (p.Phe1193Leu)
|
|
|
|
NM_001042492.3(NF1):c.3579T>G (p.Phe1193Leu)
|
rs2067142728
|
|
|
NM_001042492.3(NF1):c.3585_3586del (p.Leu1196fs)
|
rs2067142764
|
|
|
NM_001042492.3(NF1):c.3586C>G (p.Leu1196Val)
|
rs1555615039
|
|
|
NM_001042492.3(NF1):c.3587T>C (p.Leu1196Pro)
|
|
|
|
NM_001042492.3(NF1):c.3587T>G (p.Leu1196Arg)
|
rs199474741
|
|
|
NM_001042492.3(NF1):c.3591dup (p.Glu1198fs)
|
rs1135402844
|
|
|
NM_001042492.3(NF1):c.3594_3595del (p.Glu1198fs)
|
|
|
|
NM_001042492.3(NF1):c.3595del (p.Thr1199fs)
|
rs2151435535
|
|
|
NM_001042492.3(NF1):c.3596C>T (p.Thr1199Ile)
|
rs1555615047
|
|
|
NM_001042492.3(NF1):c.3596del (p.Thr1199fs)
|
|
|
|
NM_001042492.3(NF1):c.3600_3609del (p.Leu1201fs)
|
rs2151435556
|
|
|
NM_001042492.3(NF1):c.3602T>A (p.Leu1201Ter)
|
rs2151435564
|
|
|
NM_001042492.3(NF1):c.3604_3607dup (p.Asp1203delinsGlyTer)
|
rs2151435566
|
|
|
NM_001042492.3(NF1):c.3604_3616del (p.Ala1202fs)
|
|
|
|
NM_001042492.3(NF1):c.3604del (p.Ala1202fs)
|
rs1597720036
|
|
|
NM_001042492.3(NF1):c.3607_3614del (p.Ala1202_Asp1203insTer)
|
|
|
|
NM_001042492.3(NF1):c.360del (p.Leu121fs)
|
rs2143671676
|
|
|
NM_001042492.3(NF1):c.3610C>G (p.Arg1204Gly)
|
rs199474732
|
|
|
NM_001042492.3(NF1):c.3611G>A (p.Arg1204Gln)
|
rs1057521848
|
|
|
NM_001042492.3(NF1):c.3611G>T (p.Arg1204Leu)
|
rs1057521848
|
|
|
NM_001042492.3(NF1):c.3614_3615dup (p.Glu1206fs)
|
|
|
|
NM_001042492.3(NF1):c.3614_3626del (p.Phe1205fs)
|
|
|
|
NM_001042492.3(NF1):c.3615del (p.Phe1205fs)
|
|
|
|
NM_001042492.3(NF1):c.3616G>T (p.Glu1206Ter)
|
rs2151435605
|
|
|
NM_001042492.3(NF1):c.3619del (p.Arg1207fs)
|
|
|
|
NM_001042492.3(NF1):c.3623T>A (p.Leu1208Ter)
|
rs1060500374
|
|
|
NM_001042492.3(NF1):c.3625del (p.Val1209fs)
|
|
|
|
NM_001042492.3(NF1):c.3628G>T (p.Glu1210Ter)
|
rs2151435633
|
|
|
NM_001042492.3(NF1):c.3632_3635dup (p.Thr1213fs)
|
|
|
|
NM_001042492.3(NF1):c.3637dup (p.Thr1213fs)
|
rs2151435655
|
|
|
NM_001042492.3(NF1):c.3639_3640del (p.Met1214fs)
|
rs2151435662
|
|
|
NM_001042492.3(NF1):c.3639_3641del (p.Met1215del)
|
rs1060500276
|
|
|
NM_001042492.3(NF1):c.3640del (p.Thr1213_Met1214insTer)
|
rs2151435660
|
|
|
NM_001042492.3(NF1):c.3641_3645del (p.Met1214fs)
|
rs2151435670
|
|
|
NM_001042492.3(NF1):c.3641dup (p.Met1214fs)
|
rs2151435668
|
|
|
NM_001042492.3(NF1):c.3644T>A (p.Met1215Lys)
|
|
|
|
NM_001042492.3(NF1):c.3644T>G (p.Met1215Arg)
|
rs1555615071
|
|
|
NM_001042492.3(NF1):c.3645_3646insCACC (p.Gly1216fs)
|
|
|
|
NM_001042492.3(NF1):c.3650A>G (p.Asp1217Gly)
|
|
|
|
NM_001042492.3(NF1):c.3652C>T (p.Gln1218Ter)
|
|
|
|
NM_001042492.3(NF1):c.3655G>A (p.Gly1219Arg)
|
rs2067144197
|
|
|
NM_001042492.3(NF1):c.3656G>A (p.Gly1219Glu)
|
rs878853885
|
|
|
NM_001042492.3(NF1):c.3656G>T (p.Gly1219Val)
|
rs878853885
|
|
|
NM_001042492.3(NF1):c.3656_3658del (p.Gly1219del)
|
rs1555615077
|
|
|
NM_001042492.3(NF1):c.3657dup (p.Glu1220fs)
|
rs1567851445
|
|
|
NM_001042492.3(NF1):c.3658_3659insTTTG (p.Glu1220delinsValTer)
|
rs2067144319
|
|
|
NM_001042492.3(NF1):c.3662T>G (p.Leu1221Arg)
|
rs1597720167
|
|
|
NM_001042492.3(NF1):c.3662del (p.Leu1221fs)
|
|
|
|
NM_001042492.3(NF1):c.3665del (p.Pro1222fs)
|
rs867391752
|
|
|
NM_001042492.3(NF1):c.3668T>G (p.Ile1223Arg)
|
rs1555615091
|
|
|
NM_001042492.3(NF1):c.3669_3687del (p.Ile1223fs)
|
|
|
|
NM_001042492.3(NF1):c.366del (p.His122fs)
|
|
|
|
NM_001042492.3(NF1):c.3677dup (p.Leu1227fs)
|
rs1567851501
|
|
|
NM_001042492.3(NF1):c.367_368del (p.Thr123fs)
|
rs1597635793
|
|
|
NM_001042492.3(NF1):c.3682del (p.Ala1228fs)
|
|
|
|
NM_001042492.3(NF1):c.3686del (p.Asn1229fs)
|
rs1555615103
|
|
|
NM_001042492.3(NF1):c.3687del (p.Asn1229fs)
|
|
|
|
NM_001042492.3(NF1):c.3692_3708del (p.Val1231fs)
|
rs1135402848
|
|
|
NM_001042492.3(NF1):c.3693del (p.Pro1232fs)
|
|
|
|
NM_001042492.3(NF1):c.3695del (p.Pro1232fs)
|
rs1567851532
|
|
|
NM_001042492.3(NF1):c.3700dup (p.Ser1234fs)
|
rs2151435809
|
|
|
NM_001042492.3(NF1):c.3703C>T (p.Gln1235Ter)
|
rs1555615109
|
|
|
NM_001042492.3(NF1):c.3704_3707del (p.Gln1235fs)
|
rs2151435829
|
|
|
NM_001042492.3(NF1):c.3707G>A (p.Trp1236Ter)
|
rs1252674239
|
|
|
NM_001042492.3(NF1):c.3708+1G>A
|
rs1420779915
|
|
|
NM_001042492.3(NF1):c.3708+1G>C
|
rs1420779915
|
|
|
NM_001042492.3(NF1):c.3708+1G>T
|
rs1420779915
|
|
|
NM_001042492.3(NF1):c.3708+2T>C
|
|
|
|
NM_001042492.3(NF1):c.3708G>A (p.Trp1236Ter)
|
rs2067145586
|
|
|
NM_001042492.3(NF1):c.3709-1G>A
|
rs1555615431
|
|
|
NM_001042492.3(NF1):c.3709-2A>T
|
rs1597722374
|
|
|
NM_001042492.3(NF1):c.3709-941_3974+2711del
|
|
|
|
NM_001042492.3(NF1):c.370_386del (p.Cys124fs)
|
|
|
|
NM_001042492.3(NF1):c.370del (p.Cys124fs)
|
rs1597635825
|
|
|
NM_001042492.3(NF1):c.3712G>T (p.Glu1238Ter)
|
rs1060500346
|
|
|
NM_001042492.3(NF1):c.3712del (p.Glu1238fs)
|
|
|
|
NM_001042492.3(NF1):c.3721C>T (p.Arg1241Ter)
|
rs137854562
|
|
|
NM_001042492.3(NF1):c.3728T>C (p.Leu1243Pro)
|
rs137854564
|
|
|
NM_001042492.3(NF1):c.3728_3732del (p.Leu1243fs)
|
rs2151437742
|
|
|
NM_001042492.3(NF1):c.372_373insTT (p.Arg125fs)
|
rs1555606080
|
|
|
NM_001042492.3(NF1):c.372del (p.Arg125fs)
|
|
|
|
NM_001042492.3(NF1):c.3732_3742del (p.Thr1245fs)
|
rs1597722429
|
|
|
NM_001042492.3(NF1):c.3732dup (p.Thr1245fs)
|
rs1135402849
|
|
|
NM_001042492.3(NF1):c.3733_3740del (p.Val1244_Thr1245insTer)
|
rs2151437747
|
|
|
NM_001042492.3(NF1):c.3736_3737del (p.Leu1246fs)
|
rs2067186293
|
|
|
NM_001042492.3(NF1):c.3737dup (p.Phe1247fs)
|
rs1555615445
|
|
|
NM_001042492.3(NF1):c.3738del (p.Phe1247fs)
|
rs2151437785
|
|
|
NM_001042492.3(NF1):c.3739_3742del (p.Phe1247fs)
|
rs1064794276
|
|
|
NM_001042492.3(NF1):c.3755T>A (p.Leu1252Ter)
|
rs2067186801
|
|
|
NM_001042492.3(NF1):c.3755delinsAG (p.Leu1252Ter)
|
|
|
|
NM_001042492.3(NF1):c.3757_3797del (p.Leu1253fs)
|
rs1555615447
|
|
|
NM_001042492.3(NF1):c.3758_3762del (p.Leu1253fs)
|
|
|
|
NM_001042492.3(NF1):c.375_376del (p.Glu126fs)
|
rs2143672004
|
|
|
NM_001042492.3(NF1):c.375del (p.Glu126fs)
|
rs2143672014
|
|
|
NM_001042492.3(NF1):c.3760dup (p.Tyr1254fs)
|
rs2151437833
|
|
|
NM_001042492.3(NF1):c.3762C>A (p.Tyr1254Ter)
|
|
|
|
NM_001042492.3(NF1):c.3763C>T (p.Gln1255Ter)
|
rs1060500308
|
|
|
NM_001042492.3(NF1):c.3763_3764insTA (p.Gln1255fs)
|
rs2151437838
|
|
|
NM_001042492.3(NF1):c.3764A>G (p.Gln1255Arg)
|
rs1555615453
|
|
|
NM_001042492.3(NF1):c.376G>T (p.Glu126Ter)
|
rs2143672030
|
|
|
NM_001042492.3(NF1):c.3772T>C (p.Trp1258Arg)
|
rs1597722508
|
|
|
NM_001042492.3(NF1):c.3773G>A (p.Trp1258Ter)
|
rs1555615458
|
|
|
NM_001042492.3(NF1):c.3774del (p.Leu1257_Trp1258insTer)
|
rs2151437862
|
|
|
NM_001042492.3(NF1):c.3777_3778del (p.Met1260fs)
|
rs2067187364
|
|
|
NM_001042492.3(NF1):c.3778_3781del (p.Met1260fs)
|
rs2067187424
|
|
|
NM_001042492.3(NF1):c.3778_3782del (p.Met1260fs)
|
rs1555615462
|
|
|
NM_001042492.3(NF1):c.3778del (p.Met1260fs)
|
rs2151437874
|
|
|
NM_001042492.3(NF1):c.3784del (p.Ser1262fs)
|
rs1567852567
|
|
|
NM_001042492.3(NF1):c.3786_3787insSVAelement
|
rs2067187668
|
|
|
NM_001042492.3(NF1):c.3789del (p.Glu1264fs)
|
rs2151437896
|
|
|
NM_001042492.3(NF1):c.378del (p.Gly127fs)
|
|
|
|
NM_001042492.3(NF1):c.3790G>A (p.Glu1264Lys)
|
rs863224660
|
|
|
NM_001042492.3(NF1):c.3790G>T (p.Glu1264Ter)
|
rs863224660
|
|
|
NM_001042492.3(NF1):c.3791_3792del (p.Glu1264fs)
|
rs2151437904
|
|
|
NM_001042492.3(NF1):c.3796G>T (p.Glu1266Ter)
|
rs876660667
|
|
|
NM_001042492.3(NF1):c.379G>T (p.Gly127Ter)
|
|
|
|
NM_001042492.3(NF1):c.3800del (p.Leu1267fs)
|
rs2151437918
|
|
|
NM_001042492.3(NF1):c.3802_3803insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAAGTAGAATTGG (p.Leu1267_Ala1268insGlyProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyArgIleThrArgSerXaaXaaXaaXaaLysLysLysLysLysLysLysGluValGluLeu)
|
rs2151437897
|
|
|
NM_001042492.3(NF1):c.3809_3838del (p.Ser1270_Ser1279del)
|
rs2151437941
|
|
|
NM_001042492.3(NF1):c.380_381insT (p.Asn128fs)
|
rs2143672139
|
|
|
NM_001042492.3(NF1):c.3810_3820del (p.Met1271fs)
|
rs2067188114
|
|
|
NM_001042492.3(NF1):c.3814C>T (p.Gln1272Ter)
|
rs2067188361
|
|
|
NM_001042492.3(NF1):c.3816_3817del (p.Gln1272fs)
|
rs2151437959
|
|
|
NM_001042492.3(NF1):c.3820_3823del (p.Leu1274fs)
|
|
|
|
NM_001042492.3(NF1):c.3821dup (p.Phe1275fs)
|
rs786203614
|
|
|
NM_001042492.3(NF1):c.3822_3823del (p.Phe1275fs)
|
rs1555615472
|
|
|
NM_001042492.3(NF1):c.3822_3823insG (p.Phe1275fs)
|
rs2151437977
|
|
|
NM_001042492.3(NF1):c.3824del (p.Phe1275fs)
|
|
|
|
NM_001042492.3(NF1):c.3826C>G (p.Arg1276Gly)
|
rs199474742
|
|
|
NM_001042492.3(NF1):c.3826C>T (p.Arg1276Ter)
|
rs199474742
|
|
|
NM_001042492.3(NF1):c.3826del (p.Arg1276fs)
|
rs2067188667
|
|
|
NM_001042492.3(NF1):c.3827G>C (p.Arg1276Pro)
|
rs137854556
|
|
|
NM_001042492.3(NF1):c.3827G>T (p.Arg1276Leu)
|
rs137854556
|
|
|
NM_001042492.3(NF1):c.3831C>T (p.Gly1277=)
|
rs1597722611
|
|
|
NM_001042492.3(NF1):c.3833del (p.Asn1278fs)
|
|
|
|
NM_001042492.3(NF1):c.3834C>A (p.Asn1278Lys)
|
|
|
|
NM_001042492.3(NF1):c.3834C>G (p.Asn1278Lys)
|
rs1135402850
|
|
|
NM_001042492.3(NF1):c.3841_3842del (p.Ala1281fs)
|
|
|
|
NM_001042492.3(NF1):c.3844A>C (p.Ser1282Arg)
|
rs2151438016
|
|
|
NM_001042492.3(NF1):c.3846T>G (p.Ser1282Arg)
|
rs2067189266
|
|
|
NM_001042492.3(NF1):c.3850del (p.Lys1283_Ile1284insTer)
|
|
|
|
NM_001042492.3(NF1):c.3851T>G (p.Ile1284Arg)
|
|
|
|
NM_001042492.3(NF1):c.3853del (p.Ile1284_Met1285insTer)
|
rs2067189436
|
|
|
NM_001042492.3(NF1):c.385C>T (p.Gln129Ter)
|
rs2143672195
|
|
|
NM_001042492.3(NF1):c.385del (p.Gln129fs)
|
|
|
|
NM_001042492.3(NF1):c.3866_3867insACCC (p.Phe1289fs)
|
|
|
|
NM_001042492.3(NF1):c.3866del (p.Phe1289fs)
|
|
|
|
NM_001042492.3(NF1):c.3866dup (p.Lys1290fs)
|
rs2067189705
|
|
|
NM_001042492.3(NF1):c.3869del (p.Lys1290fs)
|
rs2067189853
|
|
|
NM_001042492.3(NF1):c.3870+1G>A
|
rs1131691075
|
|
|
NM_001042492.3(NF1):c.3870+1G>C
|
rs1131691075
|
|
|
NM_001042492.3(NF1):c.3870+1G>T
|
rs1131691075
|
|
|
NM_001042492.3(NF1):c.3870+1del
|
rs2151438079
|
|
|
NM_001042492.3(NF1):c.3870_3871insTAG (p.Val1291Ter)
|
rs2151438075
|
|
|
NM_001042492.3(NF1):c.3871-13T>A
|
rs1597722866
|
|
|
NM_001042492.3(NF1):c.3871-1G>A
|
rs1567852753
|
|
|
NM_001042492.3(NF1):c.3871-1G>C
|
|
|
|
NM_001042492.3(NF1):c.3871-1G>T
|
|
|
|
NM_001042492.3(NF1):c.3871-2A>G
|
rs1131691077
|
|
|
NM_001042492.3(NF1):c.3873_3875dup (p.Tyr1292Ter)
|
rs2067193335
|
|
|
NM_001042492.3(NF1):c.3876T>A (p.Tyr1292Ter)
|
|
|
|
NM_001042492.3(NF1):c.3876T>G (p.Tyr1292Ter)
|
rs2067193414
|
|
|
NM_001042492.3(NF1):c.3884_3887del (p.Thr1295fs)
|
rs2067193558
|
|
|
NM_001042492.3(NF1):c.3887_3888dup (p.Leu1297fs)
|
rs2151438524
|
|
|
NM_001042492.3(NF1):c.3888T>A (p.Tyr1296Ter)
|
|
|
|
NM_001042492.3(NF1):c.3888T>G (p.Tyr1296Ter)
|
rs2151438526
|
|
|
NM_001042492.3(NF1):c.3892C>T (p.Gln1298Ter)
|
rs2067193761
|
|
|
NM_001042492.3(NF1):c.3892del (p.Gln1298fs)
|
rs2151438543
|
|
|
NM_001042492.3(NF1):c.3897del (p.Lys1299fs)
|
rs878853890
|
|
|
NM_001042492.3(NF1):c.3897dup (p.Leu1300fs)
|
|
|
|
NM_001042492.3(NF1):c.3898del (p.Leu1300fs)
|
|
|
|
NM_001042492.3(NF1):c.389del (p.His130fs)
|
rs2143672296
|
|
|
NM_001042492.3(NF1):c.3902_3903insTTATTACGAATTG (p.Asp1302fs)
|
rs786203500
|
|
|
NM_001042492.3(NF1):c.3906del (p.Pro1303fs)
|
|
|
|
NM_001042492.3(NF1):c.3908del (p.Pro1303fs)
|
|
|
|
NM_001042492.3(NF1):c.3911T>A (p.Leu1304Ter)
|
rs761512189
|
|
|
NM_001042492.3(NF1):c.3911del (p.Leu1304fs)
|
rs1555615549
|
|
|
NM_001042492.3(NF1):c.3914T>A (p.Leu1305Ter)
|
rs2151438600
|
|
|
NM_001042492.3(NF1):c.3915dup (p.Arg1306fs)
|
|
|
|
NM_001042492.3(NF1):c.3916C>T (p.Arg1306Ter)
|
rs376576925
|
|
|
NM_001042492.3(NF1):c.3926del (p.Ile1309fs)
|
rs2067194538
|
|
|
NM_001042492.3(NF1):c.3936del (p.Asp1313fs)
|
|
|
|
NM_001042492.3(NF1):c.3936dup (p.Asp1313Ter)
|
|
|
|
NM_001042492.3(NF1):c.3938_3941del (p.Asp1313fs)
|
rs2151438635
|
|
|
NM_001042492.3(NF1):c.3940del (p.Trp1314fs)
|
rs2151438640
|
|
|
NM_001042492.3(NF1):c.3940dup (p.Trp1314fs)
|
|
|
|
NM_001042492.3(NF1):c.3941G>A (p.Trp1314Ter)
|
rs876658235
|
|
|
NM_001042492.3(NF1):c.3942G>A (p.Trp1314Ter)
|
rs2067194816
|
|
|
NM_001042492.3(NF1):c.3942del (p.Trp1314fs)
|
|
|
|
NM_001042492.3(NF1):c.3943C>T (p.Gln1315Ter)
|
rs2067194846
|
|
|
NM_001042492.3(NF1):c.3947_3948del (p.His1316fs)
|
|
|
|
NM_001042492.3(NF1):c.3948dup (p.Val1317fs)
|
rs1555615559
|
|
|
NM_001042492.3(NF1):c.394_395del (p.Ala131_Ala132insTer)
|
|
|
|
NM_001042492.3(NF1):c.394del (p.Ala132fs)
|
|
|
|
NM_001042492.3(NF1):c.3961_3964del (p.Val1321fs)
|
|
|
|
NM_001042492.3(NF1):c.3964del (p.Asp1322fs)
|
rs2067195486
|
|
|
NM_001042492.3(NF1):c.3965del (p.Asp1322fs)
|
rs2067195581
|
|
|
NM_001042492.3(NF1):c.3968del (p.Pro1323fs)
|
rs2151438695
|
|
|
NM_001042492.3(NF1):c.396del (p.Glu133fs)
|
rs2143672476
|
|
|
NM_001042492.3(NF1):c.3970del (p.Thr1324fs)
|
rs2151438700
|
|
|
NM_001042492.3(NF1):c.3973del (p.Arg1325fs)
|
|
|
|
NM_001042492.3(NF1):c.3974+1G>A
|
rs1567852849
|
|
|
NM_001042492.3(NF1):c.3974+1G>C
|
rs1567852849
|
|
|
NM_001042492.3(NF1):c.3974+1G>T
|
rs1567852849
|
|
|
NM_001042492.3(NF1):c.3974+2T>G
|
|
|
|
NM_001042492.3(NF1):c.3974G>A (p.Arg1325Lys)
|
rs863224447
|
|
|
NM_001042492.3(NF1):c.3974G>C (p.Arg1325Thr)
|
rs863224447
|
|
|
NM_001042492.3(NF1):c.3975-11T>G
|
rs1597734976
|
|
|
NM_001042492.3(NF1):c.3975-1922_4174-2448delinsTTTACTTAGGT
|
|
|
|
NM_001042492.3(NF1):c.3975-1G>A
|
rs1060500370
|
|
|
NM_001042492.3(NF1):c.3975-1G>T
|
rs1060500370
|
|
|
NM_001042492.3(NF1):c.3975-2A>G
|
rs864622431
|
|
|
NM_001042492.3(NF1):c.3975-2A>T
|
rs864622431
|
|
|
NM_001042492.3(NF1):c.3977T>A (p.Leu1326Ter)
|
rs2067447633
|
|
|
NM_001042492.3(NF1):c.3977T>G (p.Leu1326Ter)
|
rs2067447633
|
|
|
NM_001042492.3(NF1):c.397del (p.Glu133fs)
|
rs878853891
|
|
|
NM_001042492.3(NF1):c.3986C>A (p.Ser1329Ter)
|
rs1060500319
|
|
|
NM_001042492.3(NF1):c.3986C>G (p.Ser1329Ter)
|
rs1060500319
|
|
|
NM_001042492.3(NF1):c.3991_3992del (p.Ser1331fs)
|
|
|
|
NM_001042492.3(NF1):c.3991del (p.Ser1331fs)
|
rs2151451319
|
|
|
NM_001042492.3(NF1):c.4000G>T (p.Glu1334Ter)
|
rs878853892
|
|
|
NM_001042492.3(NF1):c.4000del (p.Glu1334fs)
|
rs1135402851
|
|
|
NM_001042492.3(NF1):c.4004del (p.Asn1335fs)
|
|
|
|
NM_001042492.3(NF1):c.4004dup (p.Asn1335fs)
|
rs2067448379
|
|
|
NM_001042492.3(NF1):c.4006C>T (p.Gln1336Ter)
|
rs2151451369
|
|
|
NM_001042492.3(NF1):c.4006del (p.Gln1336fs)
|
|
|
|
NM_001042492.3(NF1):c.4010_4011insTTCG (p.Asn1338fs)
|
|
|
|
NM_001042492.3(NF1):c.4015_4028del (p.Asn1338_Leu1339insTer)
|
rs1597735056
|
|
|
NM_001042492.3(NF1):c.4016T>G (p.Leu1339Arg)
|
rs1567858306
|
|
|
NM_001042492.3(NF1):c.401_402del (p.Leu134fs)
|
|
|
|
NM_001042492.3(NF1):c.4020del (p.Gln1341fs)
|
rs1567858318
|
|
|
NM_001042492.3(NF1):c.4021C>T (p.Gln1341Ter)
|
rs137854559
|
|
|
NM_001042492.3(NF1):c.4030G>T (p.Glu1344Ter)
|
rs1555617328
|
|
|
NM_001042492.3(NF1):c.4033_4034del (p.Lys1345fs)
|
|
|
|
NM_001042492.3(NF1):c.4034del (p.Lys1345fs)
|
rs2067449346
|
|
|
NM_001042492.3(NF1):c.4038del (p.Phe1347fs)
|
rs2067449493
|
|
|
NM_001042492.3(NF1):c.403_407del (p.Arg135fs)
|
rs2143672609
|
|
|
NM_001042492.3(NF1):c.403del (p.Arg135fs)
|
rs2065794400
|
|
|
NM_001042492.3(NF1):c.4042del (p.His1348fs)
|
rs2067449536
|
|
|
NM_001042492.3(NF1):c.4044del (p.His1348fs)
|
rs1567858344
|
|
|
NM_001042492.3(NF1):c.4051dup (p.Ile1351fs)
|
rs2067449978
|
|
|
NM_001042492.3(NF1):c.4062_4078del (p.Ser1355fs)
|
|
|
|
NM_001042492.3(NF1):c.4062del (p.Ser1355fs)
|
rs1597735166
|
|
|
NM_001042492.3(NF1):c.4064C>A (p.Ser1355Ter)
|
rs1131691087
|
|
|
NM_001042492.3(NF1):c.4064C>G (p.Ser1355Ter)
|
rs1131691087
|
|
|
NM_001042492.3(NF1):c.4065del (p.Glu1356fs)
|
rs2067450400
|
|
|
NM_001042492.3(NF1):c.4068_4069del (p.Glu1356fs)
|
rs1597735186
|
|
|
NM_001042492.3(NF1):c.4068del (p.Glu1356fs)
|
rs2067450430
|
|
|
NM_001042492.3(NF1):c.4070del (p.Phe1357fs)
|
rs1555617354
|
|
|
NM_001042492.3(NF1):c.4076del (p.Pro1359fs)
|
rs1135402852
|
|
|
NM_001042492.3(NF1):c.4076dup (p.Gln1360fs)
|
rs1135402852
|
|
|
NM_001042492.3(NF1):c.4078C>T (p.Gln1360Ter)
|
rs1555617368
|
|
|
NM_001042492.3(NF1):c.407del (p.Asn136fs)
|
|
|
|
NM_001042492.3(NF1):c.4083del (p.Arg1362fs)
|
|
|
|
NM_001042492.3(NF1):c.4084C>T (p.Arg1362Ter)
|
rs137854560
|
|
|
NM_001042492.3(NF1):c.4088del (p.Ser1363fs)
|
|
|
|
NM_001042492.3(NF1):c.4093_4094del (p.Cys1365fs)
|
|
|
|
NM_001042492.3(NF1):c.4095_4096insTG (p.His1366fs)
|
rs267606608
|
|
|
NM_001042492.3(NF1):c.4100del (p.Cys1367fs)
|
|
|
|
NM_001042492.3(NF1):c.4102_4103del (p.Leu1368fs)
|
|
|
|
NM_001042492.3(NF1):c.4103T>A (p.Leu1368Ter)
|
|
|
|
NM_001042492.3(NF1):c.4103T>G (p.Leu1368Ter)
|
rs1597735265
|
|
|
NM_001042492.3(NF1):c.4105_4106dup (p.Gln1370fs)
|
rs2151451661
|
|
|
NM_001042492.3(NF1):c.4105dup (p.Tyr1369fs)
|
|
|
|
NM_001042492.3(NF1):c.4107C>A (p.Tyr1369Ter)
|
rs1597735272
|
|
|
NM_001042492.3(NF1):c.4107C>G (p.Tyr1369Ter)
|
rs1597735272
|
|
|
NM_001042492.3(NF1):c.4108C>T (p.Gln1370Ter)
|
rs868573462
|
|
|
NM_001042492.3(NF1):c.4108del (p.Gln1370fs)
|
rs1597735273
|
|
|
NM_001042492.3(NF1):c.4109del (p.Gln1370fs)
|
rs2151451681
|
|
|
NM_001042492.3(NF1):c.4110+1G>A
|
rs1555617383
|
|
|
NM_001042492.3(NF1):c.4110+1G>C
|
rs1555617383
|
|
|
NM_001042492.3(NF1):c.4110+1G>T
|
rs1555617383
|
|
|
NM_001042492.3(NF1):c.4110+945A>G
|
rs2067468999
|
|
|
NM_001042492.3(NF1):c.412G>C (p.Ala138Pro)
|
rs1597635936
|
|
|
NM_001042492.3(NF1):c.416_423del (p.Ser139fs)
|
|
|
|
NM_001042492.3(NF1):c.4174-1G>A
|
rs1555618492
|
|
|
NM_001042492.3(NF1):c.4174-1G>T
|
|
|
|
NM_001042492.3(NF1):c.4174-2A>C
|
|
|
|
NM_001042492.3(NF1):c.4174-2A>G
|
rs1555618489
|
|
|
NM_001042492.3(NF1):c.4176_4177insT (p.Val1393fs)
|
rs2067620152
|
|
|
NM_001042492.3(NF1):c.417_418del (p.Val141fs)
|
rs2143672833
|
|
|
NM_001042492.3(NF1):c.417dup (p.Gly140fs)
|
|
|
|
NM_001042492.3(NF1):c.4183C>T (p.Gln1395Ter)
|
rs1555618494
|
|
|
NM_001042492.3(NF1):c.4183_4186del (p.Gln1395fs)
|
rs2151461771
|
|
|
NM_001042492.3(NF1):c.4187_4193dup (p.Gln1399fs)
|
rs2151461796
|
|
|
NM_001042492.3(NF1):c.4190del (p.Phe1397fs)
|
|
|
|
NM_001042492.3(NF1):c.4190dup (p.Gln1399fs)
|
rs2151461802
|
|
|
NM_001042492.3(NF1):c.4193_4203del (p.Pro1398fs)
|
|
|
|
NM_001042492.3(NF1):c.4193dup (p.Gln1399fs)
|
rs2067620512
|
|
|
NM_001042492.3(NF1):c.4195C>T (p.Gln1399Ter)
|
rs1131691072
|
|
|
NM_001042492.3(NF1):c.4195del (p.Gln1399fs)
|
|
|
|
NM_001042492.3(NF1):c.4206dup (p.Gly1403fs)
|
rs2151461863
|
|
|
NM_001042492.3(NF1):c.4208_4220del (p.Gly1403fs)
|
rs2151461869
|
|
|
NM_001042492.3(NF1):c.4208del (p.Gly1403fs)
|
rs2067621019
|
|
|
NM_001042492.3(NF1):c.4210dup (p.Ala1404fs)
|
|
|
|
NM_001042492.3(NF1):c.4215del (p.Gly1406fs)
|
rs2151461902
|
|
|
NM_001042492.3(NF1):c.4216G>T (p.Gly1406Ter)
|
rs2067621208
|
|
|
NM_001042492.3(NF1):c.4217del (p.Gly1406fs)
|
rs2151461905
|
|
|
NM_001042492.3(NF1):c.421del (p.Val141fs)
|
rs1131691119
|
|
|
NM_001042492.3(NF1):c.4220del (p.Ser1407fs)
|
|
|
|
NM_001042492.3(NF1):c.4229del (p.Phe1410fs)
|
rs1555618511
|
|
|
NM_001042492.3(NF1):c.422_437del (p.Val141fs)
|
rs1555606098
|
|
|
NM_001042492.3(NF1):c.4231C>G (p.Leu1411Val)
|
rs199474789
|
|
|
NM_001042492.3(NF1):c.4231C>T (p.Leu1411Phe)
|
rs199474789
|
|
|
NM_001042492.3(NF1):c.4231_4233del (p.Leu1411del)
|
|
|
|
NM_001042492.3(NF1):c.4231del (p.Leu1411fs)
|
|
|
|
NM_001042492.3(NF1):c.4232T>C (p.Leu1411Pro)
|
rs2067621676
|
|
|
NM_001042492.3(NF1):c.4232T>G (p.Leu1411Arg)
|
|
|
|
NM_001042492.3(NF1):c.4234A>G (p.Arg1412Gly)
|
rs1555618515
|
|
|
NM_001042492.3(NF1):c.4235G>C (p.Arg1412Thr)
|
rs1555618516
|
|
|
NM_001042492.3(NF1):c.4235G>T (p.Arg1412Ile)
|
|
|
|
NM_001042492.3(NF1):c.4235_4236delinsCT (p.Arg1412Thr)
|
|
|
|
NM_001042492.3(NF1):c.4236A>T (p.Arg1412Ser)
|
rs137854554
|
|
|
NM_001042492.3(NF1):c.4236_4237del (p.Arg1412fs)
|
rs2151461956
|
|
|
NM_001042492.3(NF1):c.4239del (p.Phe1413fs)
|
rs2067621912
|
|
|
NM_001042492.3(NF1):c.4243A>C (p.Asn1415His)
|
rs1555618518
|
|
|
NM_001042492.3(NF1):c.4243_4246del (p.Asn1415fs)
|
|
|
|
NM_001042492.3(NF1):c.4245T>A (p.Asn1415Lys)
|
rs760949880
|
|
|
NM_001042492.3(NF1):c.4245T>G (p.Asn1415Lys)
|
rs760949880
|
|
|
NM_001042492.3(NF1):c.4254del (p.Ile1418fs)
|
rs1135402855
|
|
|
NM_001042492.3(NF1):c.4259C>G (p.Ser1420Ter)
|
|
|
|
NM_001042492.3(NF1):c.4259_4262dup (p.Tyr1422fs)
|
|
|
|
NM_001042492.3(NF1):c.425dup (p.Leu142fs)
|
|
|
|
NM_001042492.3(NF1):c.4260_4261del (p.Pro1421fs)
|
rs1555618536
|
|
|
NM_001042492.3(NF1):c.4262del (p.Pro1421fs)
|
rs1567861977
|
|
|
NM_001042492.3(NF1):c.4263del (p.Tyr1422fs)
|
rs1555618542
|
|
|
NM_001042492.3(NF1):c.4264dup (p.Tyr1422fs)
|
|
|
|
NM_001042492.3(NF1):c.4266T>G (p.Tyr1422Ter)
|
rs2151462060
|
|
|
NM_001042492.3(NF1):c.4266dup (p.Glu1423Ter)
|
rs876659964
|
|
|
NM_001042492.3(NF1):c.4275del (p.Ile1426fs)
|
|
|
|
NM_001042492.3(NF1):c.4275dup (p.Ile1426fs)
|
rs2067623178
|
|
|
NM_001042492.3(NF1):c.4280T>G (p.Leu1427Ter)
|
rs1177433867
|
|
|
NM_001042492.3(NF1):c.4280del (p.Ile1426_Leu1427insTer)
|
|
|
|
NM_001042492.3(NF1):c.4280dup (p.Leu1427fs)
|
rs2151462078
|
|
|
NM_001042492.3(NF1):c.4283_4290del (p.Asp1428fs)
|
|
|
|
NM_001042492.3(NF1):c.4285A>T (p.Lys1429Ter)
|
rs758915600
|
|
|
NM_001042492.3(NF1):c.4289dup (p.Pro1431fs)
|
|
|
|
NM_001042492.3(NF1):c.4292_4293insGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGACTAAAACNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAGCC (p.Pro1431_Pro1432insAlaGlyArgSerGlySerArgLeuTer)
|
|
|
|
NM_001042492.3(NF1):c.4293_4294dup (p.Pro1432fs)
|
rs1555618552
|
|
|
NM_001042492.3(NF1):c.4298_4299insA (p.Pro1433_Arg1434insTer)
|
|
|
|
NM_001042492.3(NF1):c.4298_4305dup (p.Glu1436fs)
|
|
|
|
NM_001042492.3(NF1):c.4298del (p.Pro1433fs)
|
rs2067623782
|
|
|
NM_001042492.3(NF1):c.4299dup (p.Arg1434Ter)
|
|
|
|
NM_001042492.3(NF1):c.4300A>T (p.Arg1434Ter)
|
rs2067623934
|
|
|
NM_001042492.3(NF1):c.4303_4333-241delinsGGA
|
rs2151462146
|
|
|
NM_001042492.3(NF1):c.4304_4305dup (p.Glu1436fs)
|
|
|
|
NM_001042492.3(NF1):c.4306G>T (p.Glu1436Ter)
|
rs876660428
|
|
|
NM_001042492.3(NF1):c.4309dup (p.Arg1437fs)
|
|
|
|
NM_001042492.3(NF1):c.4313del (p.Gly1438fs)
|
rs2151462156
|
|
|
NM_001042492.3(NF1):c.4316T>A (p.Leu1439Ter)
|
rs1567862071
|
|
|
NM_001042492.3(NF1):c.4316dup (p.Leu1439fs)
|
|
|
|
NM_001042492.3(NF1):c.4318A>G (p.Lys1440Glu)
|
rs199474790
|
|
|
NM_001042492.3(NF1):c.4321T>G (p.Leu1441Val)
|
|
|
|
NM_001042492.3(NF1):c.4322T>G (p.Leu1441Ter)
|
|
|
|
NM_001042492.3(NF1):c.4324del (p.Met1442fs)
|
rs1135402856
|
|
|
NM_001042492.3(NF1):c.4327del (p.Ser1443fs)
|
rs2151462210
|
|
|
NM_001042492.3(NF1):c.4328C>G (p.Ser1443Ter)
|
rs1555618566
|
|
|
NM_001042492.3(NF1):c.4328C>T (p.Ser1443Leu)
|
rs1555618566
|
|
|
NM_001042492.3(NF1):c.4330A>C (p.Lys1444Gln)
|
rs137854550
|
|
|
NM_001042492.3(NF1):c.4330A>T (p.Lys1444Ter)
|
rs137854550
|
|
|
NM_001042492.3(NF1):c.4331A>C (p.Lys1444Thr)
|
|
|
|
NM_001042492.3(NF1):c.4331A>G (p.Lys1444Arg)
|
rs199474781
|
|
|
NM_001042492.3(NF1):c.4331A>T (p.Lys1444Met)
|
rs199474781
|
|
|
NM_001042492.3(NF1):c.4332+1G>A
|
rs1555618572
|
|
|
NM_001042492.3(NF1):c.4332+1G>C
|
rs1555618572
|
|
|
NM_001042492.3(NF1):c.4332+1G>T
|
rs1555618572
|
|
|
NM_001042492.3(NF1):c.4332+1del
|
rs1567862095
|
|
|
NM_001042492.3(NF1):c.4332+2T>C
|
rs786204207
|
|
|
NM_001042492.3(NF1):c.4332+2T>G
|
|
|
|
NM_001042492.3(NF1):c.4332G>A (p.Lys1444=)
|
rs199474750
|
|
|
NM_001042492.3(NF1):c.4332G>C (p.Lys1444Asn)
|
rs199474750
|
|
|
NM_001042492.3(NF1):c.4332G>T (p.Lys1444Asn)
|
rs199474750
|
|
|
NM_001042492.3(NF1):c.4333-1G>A
|
rs1418965797
|
|
|
NM_001042492.3(NF1):c.4333-1G>C
|
rs1418965797
|
|
|
NM_001042492.3(NF1):c.4333-1G>T
|
rs1418965797
|
|
|
NM_001042492.3(NF1):c.4333-2A>C
|
rs1555618634
|
|
|
NM_001042492.3(NF1):c.4333-2A>G
|
rs1555618634
|
|
|
NM_001042492.3(NF1):c.4333-2del
|
rs886041630
|
|
|
NM_001042492.3(NF1):c.4333del (p.Ile1445fs)
|
rs1597745559
|
|
|
NM_001042492.3(NF1):c.4334dup (p.Leu1446fs)
|
rs2151462945
|
|
|
NM_001042492.3(NF1):c.4337T>C (p.Leu1446Pro)
|
rs199474733
|
|
|
NM_001042492.3(NF1):c.4337T>G (p.Leu1446Arg)
|
|
|
|
NM_001042492.3(NF1):c.4338del (p.Gln1447fs)
|
rs2067635690
|
|
|
NM_001042492.3(NF1):c.4339C>A (p.Gln1447Lys)
|
rs1135402857
|
|
|
NM_001042492.3(NF1):c.4339C>G (p.Gln1447Glu)
|
rs1135402857
|
|
|
NM_001042492.3(NF1):c.4339C>T (p.Gln1447Ter)
|
rs1135402857
|
|
|
NM_001042492.3(NF1):c.4340A>C (p.Gln1447Pro)
|
rs786204157
|
|
|
NM_001042492.3(NF1):c.4340A>G (p.Gln1447Arg)
|
rs786204157
|
|
|
NM_001042492.3(NF1):c.4340_4341delinsCA (p.Gln1447Pro)
|
rs2067635955
|
|
|
NM_001042492.3(NF1):c.4341G>C (p.Gln1447His)
|
rs876660206
|
|
|
NM_001042492.3(NF1):c.4343del (p.Ser1448fs)
|
|
|
|
NM_001042492.3(NF1):c.434T>C (p.Leu145Pro)
|
rs199474734
|
|
|
NM_001042492.3(NF1):c.434_435del (p.Leu145fs)
|
rs2143673063
|
|
|
NM_001042492.3(NF1):c.4351A>G (p.Asn1451Asp)
|
rs1567862283
|
|
|
NM_001042492.3(NF1):c.4352A>C (p.Asn1451Thr)
|
rs199474754
|
|
|
NM_001042492.3(NF1):c.4352A>T (p.Asn1451Ile)
|
rs199474754
|
|
|
NM_001042492.3(NF1):c.4353T>A (p.Asn1451Lys)
|
|
|
|
NM_001042492.3(NF1):c.4355del (p.His1452fs)
|
rs2151462997
|
|
|
NM_001042492.3(NF1):c.4364_4380del (p.Phe1455fs)
|
|
|
|
NM_001042492.3(NF1):c.4367del (p.Thr1456fs)
|
rs2067637088
|
|
|
NM_001042492.3(NF1):c.4369A>C (p.Lys1457Gln)
|
rs878853893
|
|
|
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.4370_4374del (p.Lys1457fs)
|
rs2151463037
|
|
|
NM_001042492.3(NF1):c.4371A>C (p.Lys1457Asn)
|
rs1555618658
|
|
|
NM_001042492.3(NF1):c.4371del (p.Glu1458fs)
|
|
|
|
NM_001042492.3(NF1):c.4372G>A (p.Glu1458Lys)
|
rs1135402858
|
|
|
NM_001042492.3(NF1):c.4372G>T (p.Glu1458Ter)
|
rs1135402858
|
|
|
NM_001042492.3(NF1):c.4372GAA[1] (p.Glu1459del)
|
rs267606607
|
|
|
NM_001042492.3(NF1):c.4372_4380del (p.Glu1458_His1460del)
|
|
|
|
NM_001042492.3(NF1):c.4373_4430+20delinsGCAACTGAGTAAGTGGCAAGAAAATTACCTGCATCAAAGTTGCTTTTCACAAAA
|
rs2151463053
|
|
|
NM_001042492.3(NF1):c.4374A>C (p.Glu1458Asp)
|
|
|
|
NM_001042492.3(NF1):c.4375G>T (p.Glu1459Ter)
|
rs1597745663
|
|
|
NM_001042492.3(NF1):c.4380dup (p.Met1461fs)
|
rs886041435
|
|
|
NM_001042492.3(NF1):c.4381A>T (p.Met1461Leu)
|
rs1555618675
|
|
|
NM_001042492.3(NF1):c.4381_4382dup (p.Met1461fs)
|
rs1135402859
|
|
|
NM_001042492.3(NF1):c.4381dup (p.Met1461fs)
|
rs1597745689
|
|
|
NM_001042492.3(NF1):c.4382T>A (p.Met1461Lys)
|
rs754639587
|
|
|
NM_001042492.3(NF1):c.4385_4400dup (p.Phe1467delinsLeuAlaPheGlnTer)
|
|
|
|
NM_001042492.3(NF1):c.4388del (p.Pro1463fs)
|
rs2151463107
|
|
|
NM_001042492.3(NF1):c.439_445dup (p.Asn149fs)
|
rs2065795260
|
|
|
NM_001042492.3(NF1):c.4401del (p.Phe1467fs)
|
|
|
|
NM_001042492.3(NF1):c.4401dup (p.Val1468fs)
|
|
|
|
NM_001042492.3(NF1):c.4402del (p.Phe1467_Val1468insTer)
|
rs2151463141
|
|
|
NM_001042492.3(NF1):c.4404del (p.Ser1470fs)
|
rs1597745728
|
|
|
NM_001042492.3(NF1):c.4405A>T (p.Lys1469Ter)
|
rs1567862353
|
|
|
NM_001042492.3(NF1):c.4408dup (p.Ser1470fs)
|
|
|
|
NM_001042492.3(NF1):c.440_441insA (p.Cys147Ter)
|
|
|
|
NM_001042492.3(NF1):c.4410del (p.Ser1470fs)
|
rs2151463168
|
|
|
NM_001042492.3(NF1):c.4414_4415insCACAACT (p.Phe1472fs)
|
|
|
|
NM_001042492.3(NF1):c.4420dup (p.Ala1474fs)
|
rs2151463199
|
|
|
NM_001042492.3(NF1):c.4421del (p.Ala1474fs)
|
|
|
|
NM_001042492.3(NF1):c.4430+1G>A
|
rs773151680
|
|
|
NM_001042492.3(NF1):c.4430+1G>C
|
rs773151680
|
|
|
NM_001042492.3(NF1):c.4430+1G>T
|
rs773151680
|
|
|
NM_001042492.3(NF1):c.4430+2T>G
|
rs1555618693
|
|
|
NM_001042492.3(NF1):c.4431-1G>A
|
rs1597746891
|
|
|
NM_001042492.3(NF1):c.4431-1G>C
|
|
|
|
NM_001042492.3(NF1):c.4431-1G>T
|
rs1597746891
|
|
|
NM_001042492.3(NF1):c.4431-2A>G
|
rs2151464490
|
|
|
NM_001042492.3(NF1):c.4431-9T>G
|
rs1597746884
|
|
|
NM_001042492.3(NF1):c.4432_4433insAA (p.Phe1478Ter)
|
rs2151464499
|
|
|
NM_001042492.3(NF1):c.4435_4436del (p.Phe1479fs)
|
|
|
|
NM_001042492.3(NF1):c.4436del (p.Phe1479fs)
|
rs1555618803
|
|
|
NM_001042492.3(NF1):c.4436dup (p.Leu1480fs)
|
rs1555618803
|
|
|
NM_001042492.3(NF1):c.4438del (p.Asp1481fs)
|
rs1555618806
|
|
|
NM_001042492.3(NF1):c.443del (p.Asn148fs)
|
|
|
|
NM_001042492.3(NF1):c.4442del (p.Asp1481fs)
|
|
|
|
NM_001042492.3(NF1):c.4444dup (p.Ile1482fs)
|
rs2151464529
|
|
|
NM_001042492.3(NF1):c.4452_4456del (p.Asp1485fs)
|
|
|
|
NM_001042492.3(NF1):c.4453dup (p.Asp1485fs)
|
|
|
|
NM_001042492.3(NF1):c.4456del (p.Cys1486fs)
|
rs1567862860
|
|
|
NM_001042492.3(NF1):c.4457_4458delinsAA (p.Cys1486Ter)
|
|
|
|
NM_001042492.3(NF1):c.4457del (p.Cys1486fs)
|
|
|
|
NM_001042492.3(NF1):c.4460del (p.Pro1487fs)
|
rs1135402861
|
|
|
NM_001042492.3(NF1):c.4463del (p.Thr1488fs)
|
rs1597746962
|
|
|
NM_001042492.3(NF1):c.4465A>G (p.Ser1489Gly)
|
rs199474743
|
|
|
NM_001042492.3(NF1):c.4477_4502del (p.Asn1493fs)
|
|
|
|
NM_001042492.3(NF1):c.4478_4485del (p.Asn1493fs)
|
rs2151464627
|
|
|
NM_001042492.3(NF1):c.4481del (p.His1494fs)
|
rs1597746982
|
|
|
NM_001042492.3(NF1):c.4482_4483del (p.His1494fs)
|
rs1555618821
|
|
|
NM_001042492.3(NF1):c.4483_4484insC (p.Ser1495fs)
|
|
|
|
NM_001042492.3(NF1):c.4483dup (p.Ser1495fs)
|
rs878853896
|
|
|
NM_001042492.3(NF1):c.4487_4490del (p.Leu1496fs)
|
rs2151464653
|
|
|
NM_001042492.3(NF1):c.4489_4493del (p.Ser1497fs)
|
|
|
|
NM_001042492.3(NF1):c.4489del (p.Ser1497fs)
|
rs2067664000
|
|
|
NM_001042492.3(NF1):c.4489dup (p.Ser1497fs)
|
|
|
|
NM_001042492.3(NF1):c.4494del (p.Phe1498fs)
|
|
|
|
NM_001042492.3(NF1):c.4495delinsTG (p.Ile1499fs)
|
rs1597747012
|
|
|
NM_001042492.3(NF1):c.4498A>G (p.Ser1500Gly)
|
rs1135402862
|
|
|
NM_001042492.3(NF1):c.449del (p.Phe150fs)
|
rs1567817974
|
|
|
NM_001042492.3(NF1):c.449dup (p.Asn151fs)
|
|
|
|
NM_001042492.3(NF1):c.4500dup (p.Asp1501Ter)
|
|
|
|
NM_001042492.3(NF1):c.4506dup (p.Asn1503fs)
|
|
|
|
NM_001042492.3(NF1):c.4509dup (p.Val1504fs)
|
rs2151464701
|
|
|
NM_001042492.3(NF1):c.4510del (p.Val1504fs)
|
rs2151464705
|
|
|
NM_001042492.3(NF1):c.4515del (p.Ala1506fs)
|
rs2151464719
|
|
|
NM_001042492.3(NF1):c.4520T>G (p.Leu1507Ter)
|
rs1135402863
|
|
|
NM_001042492.3(NF1):c.4520del (p.Leu1507fs)
|
rs2151464729
|
|
|
NM_001042492.3(NF1):c.4521dup (p.His1508fs)
|
rs2067664784
|
|
|
NM_001042492.3(NF1):c.4526del (p.Arg1509fs)
|
rs1567862956
|
|
|
NM_001042492.3(NF1):c.4529_4543del (p.Leu1510_Asn1514del)
|
rs1555618846
|
|
|
NM_001042492.3(NF1):c.4532T>C (p.Leu1511Pro)
|
rs1135402864
|
|
|
NM_001042492.3(NF1):c.4535G>A (p.Trp1512Ter)
|
rs1267947462
|
|
|
NM_001042492.3(NF1):c.4536G>A (p.Trp1512Ter)
|
rs878853897
|
|
|
NM_001042492.3(NF1):c.4541_4544del (p.Asn1514fs)
|
|
|
|
NM_001042492.3(NF1):c.4543C>T (p.Gln1515Ter)
|
rs1567862991
|
|
|
NM_001042492.3(NF1):c.4546G>T (p.Glu1516Ter)
|
rs786203390
|
|
|
NM_001042492.3(NF1):c.454dup (p.Ala152fs)
|
rs2065795669
|
|
|
NM_001042492.3(NF1):c.4556G>A (p.Gly1519Glu)
|
rs1567863004
|
|
|
NM_001042492.3(NF1):c.4558C>T (p.Gln1520Ter)
|
rs1060500242
|
|
|
NM_001042492.3(NF1):c.4559del (p.Gln1520fs)
|
|
|
|
NM_001042492.3(NF1):c.4561del (p.Tyr1521fs)
|
rs2151464832
|
|
|
NM_001042492.3(NF1):c.4561dup (p.Tyr1521fs)
|
|
|
|
NM_001042492.3(NF1):c.4563T>G (p.Tyr1521Ter)
|
rs2151464836
|
|
|
NM_001042492.3(NF1):c.4563del (p.Leu1522fs)
|
rs2151464837
|
|
|
NM_001042492.3(NF1):c.4567dup (p.Ser1523fs)
|
rs2067665969
|
|
|
NM_001042492.3(NF1):c.456_459del (p.Val153fs)
|
|
|
|
NM_001042492.3(NF1):c.4574dup (p.Asn1525fs)
|
rs1555618862
|
|
|
NM_001042492.3(NF1):c.4577+1G>A
|
rs1279529138
|
|
|
NM_001042492.3(NF1):c.4577+1G>C
|
rs1279529138
|
|
|
NM_001042492.3(NF1):c.4577+1G>T
|
rs1279529138
|
|
|
NM_001042492.3(NF1):c.4577+2T>G
|
rs1597747184
|
|
|
NM_001042492.3(NF1):c.4578-19A>G
|
rs1555618994
|
|
|
NM_001042492.3(NF1):c.4578-1G>A
|
rs1555618999
|
|
|
NM_001042492.3(NF1):c.4578-1G>C
|
rs1555618999
|
|
|
NM_001042492.3(NF1):c.4578-1G>T
|
rs1555618999
|
|
|
NM_001042492.3(NF1):c.4578-20_4578-18del
|
rs1597748617
|
|
|
NM_001042492.3(NF1):c.4578-21T>C
|
rs1597748607
|
|
|
NM_001042492.3(NF1):c.4578-2A>C
|
rs1555618996
|
|
|
NM_001042492.3(NF1):c.4578-2A>G
|
rs1555618996
|
|
|
NM_001042492.3(NF1):c.4578-3T>G
|
rs1597748656
|
|
|
NM_001042492.3(NF1):c.4578-3del
|
rs1597748663
|
|
|
NM_001042492.3(NF1):c.4578-9T>A
|
rs2067688959
|
|
|
NM_001042492.3(NF1):c.4581del (p.His1528fs)
|
rs1597748682
|
|
|
NM_001042492.3(NF1):c.4585_4591dup (p.Val1531fs)
|
|
|
|
NM_001042492.3(NF1):c.4586A>G (p.Lys1529Arg)
|
rs1555619001
|
|
|
NM_001042492.3(NF1):c.4587dup (p.Ala1530fs)
|
|
|
|
NM_001042492.3(NF1):c.4590_4664del (p.Val1531_Ala1555del)
|
|
|
|
NM_001042492.3(NF1):c.4590del (p.Val1531fs)
|
rs2067689582
|
|
|
NM_001042492.3(NF1):c.4593del (p.Gly1532fs)
|
rs2151466223
|
|
|
NM_001042492.3(NF1):c.4597A>T (p.Arg1533Ter)
|
rs1064796633
|
|
|
NM_001042492.3(NF1):c.4597del (p.Arg1533fs)
|
rs2151466235
|
|
|
NM_001042492.3(NF1):c.4598del (p.Arg1533fs)
|
rs1060500292
|
|
|
NM_001042492.3(NF1):c.4604del (p.Pro1535fs)
|
|
|
|
NM_001042492.3(NF1):c.4607T>C (p.Phe1536Ser)
|
|
|
|
NM_001042492.3(NF1):c.4608del (p.Phe1536fs)
|
rs2151466252
|
|
|
NM_001042492.3(NF1):c.4608dup (p.Asp1537Ter)
|
|
|
|
NM_001042492.3(NF1):c.4612A>T (p.Lys1538Ter)
|
|
|
|
NM_001042492.3(NF1):c.4617_4630dup (p.Ala1544fs)
|
rs1567863580
|
|
|
NM_001042492.3(NF1):c.4618G>C (p.Ala1540Pro)
|
rs2151466274
|
|
|
NM_001042492.3(NF1):c.4618del (p.Ala1540fs)
|
rs1597748742
|
|
|
NM_001042492.3(NF1):c.4619del (p.Ala1540fs)
|
|
|
|
NM_001042492.3(NF1):c.461_462del (p.Val153_Phe154insTer)
|
rs2065795756
|
|
|
NM_001042492.3(NF1):c.461_462insA (p.Phe154fs)
|
rs2143673772
|
|
|
NM_001042492.3(NF1):c.4621_4622insG (p.Thr1541fs)
|
rs2067690233
|
|
|
NM_001042492.3(NF1):c.4622_4636del (p.Thr1541_Leu1546delinsMet)
|
rs1064792912
|
|
|
NM_001042492.3(NF1):c.4627del (p.Ala1544fs)
|
rs1131691088
|
|
|
NM_001042492.3(NF1):c.4631del (p.Ala1544fs)
|
rs1597748782
|
|
|
NM_001042492.3(NF1):c.4635C>A (p.Tyr1545Ter)
|
rs754023358
|
|
|
NM_001042492.3(NF1):c.4635C>G (p.Tyr1545Ter)
|
rs754023358
|
|
|
NM_001042492.3(NF1):c.4638_4641del (p.Gly1547fs)
|
|
|
|
NM_001042492.3(NF1):c.4639_4640del (p.Gly1547fs)
|
rs2067690686
|
|
|
NM_001042492.3(NF1):c.4639_4640dup (p.Pro1548fs)
|
|
|
|
NM_001042492.3(NF1):c.4640del (p.Gly1547fs)
|
rs2067690686
|
|
|
NM_001042492.3(NF1):c.4643del (p.Pro1548fs)
|
|
|
|
NM_001042492.3(NF1):c.4654A>T (p.Lys1552Ter)
|
|
|
|
NM_001042492.3(NF1):c.4658del (p.Pro1553fs)
|
rs1555619029
|
|
|
NM_001042492.3(NF1):c.4663del (p.Ala1555fs)
|
rs1567863614
|
|
|
NM_001042492.3(NF1):c.4669del (p.Thr1557fs)
|
rs1597748891
|
|
|
NM_001042492.3(NF1):c.4669dup (p.Thr1557fs)
|
rs1555619033
|
|
|
NM_001042492.3(NF1):c.4673_4674dup (p.Trp1559fs)
|
rs2067691394
|
|
|
NM_001042492.3(NF1):c.4676G>A (p.Trp1559Ter)
|
rs2067691658
|
|
|
NM_001042492.3(NF1):c.4677G>A (p.Trp1559Ter)
|
rs137854555
|
|
|
NM_001042492.3(NF1):c.4684_4703del (p.Leu1562fs)
|
|
|
|
NM_001042492.3(NF1):c.4684del (p.Asn1563fs)
|
rs1555619041
|
|
|
NM_001042492.3(NF1):c.4686_4687dup (p.Asn1563fs)
|
|
|
|
NM_001042492.3(NF1):c.4692dup (p.Thr1565fs)
|
|
|
|
NM_001042492.3(NF1):c.4693_4694insAA (p.Thr1565fs)
|
|
|
|
NM_001042492.3(NF1):c.4693del (p.Thr1565fs)
|
|
|
|
NM_001042492.3(NF1):c.4693dup (p.Thr1565fs)
|
|
|
|
NM_001042492.3(NF1):c.4695del (p.Ser1566fs)
|
rs2151466475
|
|
|
NM_001042492.3(NF1):c.4696del (p.Ser1566fs)
|
rs2151466481
|
|
|
NM_001042492.3(NF1):c.4696dup (p.Ser1566fs)
|
|
|
|
NM_001042492.3(NF1):c.4697_4701del (p.Ser1566fs)
|
|
|
|
NM_001042492.3(NF1):c.4700C>A (p.Ser1567Ter)
|
rs1555619051
|
|
|
NM_001042492.3(NF1):c.4700C>G (p.Ser1567Ter)
|
rs1555619051
|
|
|
NM_001042492.3(NF1):c.4700del (p.Ser1566_Ser1567insTer)
|
|
|
|
NM_001042492.3(NF1):c.4702A>T (p.Lys1568Ter)
|
rs2151466498
|
|
|
NM_001042492.3(NF1):c.4702_4703del (p.Lys1568fs)
|
|
|
|
NM_001042492.3(NF1):c.4703del (p.Lys1568fs)
|
rs1555619052
|
|
|
NM_001042492.3(NF1):c.4703dup (p.Phe1569fs)
|
rs1555619052
|
|
|
NM_001042492.3(NF1):c.4707del (p.Phe1569fs)
|
|
|
|
NM_001042492.3(NF1):c.4711G>T (p.Glu1571Ter)
|
rs1567863648
|
|
|
NM_001042492.3(NF1):c.4716dup (p.Met1573fs)
|
|
|
|
NM_001042492.3(NF1):c.4720del (p.Thr1574fs)
|
rs2151466537
|
|
|
NM_001042492.3(NF1):c.4724+1G>A
|
rs1555619056
|
|
|
NM_001042492.3(NF1):c.4724+1G>C
|
rs1555619056
|
|
|
NM_001042492.3(NF1):c.4724+1G>T
|
rs1555619056
|
|
|
NM_001042492.3(NF1):c.4724+2T>G
|
rs1597748995
|
|
|
NM_001042492.3(NF1):c.4725-1G>A
|
rs1555619391
|
|
|
NM_001042492.3(NF1):c.4725-1G>C
|
rs1555619391
|
|
|
NM_001042492.3(NF1):c.4725-2A>C
|
rs1295045178
|
|
|
NM_001042492.3(NF1):c.4725-2A>G
|
rs1295045178
|
|
|
NM_001042492.3(NF1):c.4725-2A>T
|
rs1295045178
|
|
|
NM_001042492.3(NF1):c.4729C>T (p.Gln1577Ter)
|
rs797044942
|
|
|
NM_001042492.3(NF1):c.4738G>T (p.Glu1580Ter)
|
rs2067764827
|
|
|
NM_001042492.3(NF1):c.4738_4745delinsAAAAAGG (p.Glu1580fs)
|
rs1597753176
|
|
|
NM_001042492.3(NF1):c.4743del (p.Glu1582fs)
|
|
|
|
NM_001042492.3(NF1):c.4743dup (p.Glu1582fs)
|
rs1567864972
|
|
|
NM_001042492.3(NF1):c.4744G>T (p.Glu1582Ter)
|
rs1167129178
|
|
|
NM_001042492.3(NF1):c.4744_4745del (p.Glu1582fs)
|
rs1555619395
|
|
|
NM_001042492.3(NF1):c.4747G>T (p.Glu1583Ter)
|
rs2067765099
|
|
|
NM_001042492.3(NF1):c.4747_4748dup (p.Phe1584fs)
|
rs1555619397
|
|
|
NM_001042492.3(NF1):c.4749del (p.Glu1583fs)
|
rs1567864983
|
|
|
NM_001042492.3(NF1):c.4751_4753del (p.Phe1584_Lys1585delinsTer)
|
rs2151470076
|
|
|
NM_001042492.3(NF1):c.4751del (p.Phe1584fs)
|
rs2151470069
|
|
|
NM_001042492.3(NF1):c.4753A>T (p.Lys1585Ter)
|
rs2067765257
|
|
|
NM_001042492.3(NF1):c.4756_4772del (p.Ala1586fs)
|
rs1597753208
|
|
|
NM_001042492.3(NF1):c.4760del (p.Ala1586_Leu1587insTer)
|
rs2151470108
|
|
|
NM_001042492.3(NF1):c.4765del (p.Thr1589fs)
|
rs1131691098
|
|
|
NM_001042492.3(NF1):c.4765dup (p.Thr1589fs)
|
|
|
|
NM_001042492.3(NF1):c.4769T>A (p.Leu1590Ter)
|
rs2067765689
|
|
|
NM_001042492.3(NF1):c.4769T>G (p.Leu1590Ter)
|
rs2067765689
|
|
|
NM_001042492.3(NF1):c.4770_4771del (p.Ser1591fs)
|
rs2151470150
|
|
|
NM_001042492.3(NF1):c.4770_4771delinsT (p.Leu1590fs)
|
rs2067765761
|
|
|
NM_001042492.3(NF1):c.4770_4777del (p.Leu1590fs)
|
rs1555619402
|
|
|
NM_001042492.3(NF1):c.4771dup (p.Ser1591fs)
|
|
|
|
NM_001042492.3(NF1):c.4772del (p.Ser1591fs)
|
|
|
|
NM_001042492.3(NF1):c.4774_4777dup (p.Phe1593fs)
|
|
|
|
NM_001042492.3(NF1):c.4778del (p.Phe1593fs)
|
rs2067765927
|
|
|
NM_001042492.3(NF1):c.477del (p.Arg160fs)
|
|
|
|
NM_001042492.3(NF1):c.4782C>A (p.Tyr1594Ter)
|
rs2151470201
|
|
|
NM_001042492.3(NF1):c.4782C>G (p.Tyr1594Ter)
|
rs2151470201
|
|
|
NM_001042492.3(NF1):c.4783C>T (p.Gln1595Ter)
|
rs1597753263
|
|
|
NM_001042492.3(NF1):c.4783del (p.Gln1595fs)
|
rs1555619404
|
|
|
NM_001042492.3(NF1):c.4787_4790dup (p.Thr1598fs)
|
|
|
|
NM_001042492.3(NF1):c.478del (p.Arg160fs)
|
rs2143674103
|
|
|
NM_001042492.3(NF1):c.479+1G>A
|
rs1555606137
|
|
|
NM_001042492.3(NF1):c.479+1G>C
|
rs1555606137
|
|
|
NM_001042492.3(NF1):c.479+1G>T
|
rs1555606137
|
|
|
NM_001042492.3(NF1):c.479+2T>A
|
|
|
|
NM_001042492.3(NF1):c.479+2T>C
|
|
|
|
NM_001042492.3(NF1):c.479+2T>G
|
|
|
|
NM_001042492.3(NF1):c.479+5G>A
|
rs1567818033
|
|
|
NM_001042492.3(NF1):c.4793_4802del (p.Thr1598fs)
|
|
|
|
NM_001042492.3(NF1):c.4796C>A (p.Ser1599Tyr)
|
rs1555619407
|
|
|
NM_001042492.3(NF1):c.4796_4797insG (p.Lys1600fs)
|
rs2067766404
|
|
|
NM_001042492.3(NF1):c.4798A>T (p.Lys1600Ter)
|
rs1567865056
|
|
|
NM_001042492.3(NF1):c.479G>C (p.Arg160Thr)
|
rs199474752
|
|
|
NM_001042492.3(NF1):c.480-1G>A
|
rs2065902916
|
|
|
NM_001042492.3(NF1):c.480-1G>C
|
|
|
|
NM_001042492.3(NF1):c.480-2989_586+3445del
|
|
|
|
NM_001042492.3(NF1):c.480-2A>G
|
rs1567820688
|
|
|
NM_001042492.3(NF1):c.480-8C>G
|
rs1597643692
|
|
|
NM_001042492.3(NF1):c.4801_4802insA (p.Ala1601fs)
|
|
|
|
NM_001042492.3(NF1):c.4818_4822del (p.Phe1606fs)
|
rs1555619413
|
|
|
NM_001042492.3(NF1):c.4819del (p.Tyr1607fs)
|
rs876658492
|
|
|
NM_001042492.3(NF1):c.4819dup (p.Tyr1607fs)
|
rs876658492
|
|
|
NM_001042492.3(NF1):c.4821T>G (p.Tyr1607Ter)
|
rs1555619416
|
|
|
NM_001042492.3(NF1):c.4824T>A (p.Tyr1608Ter)
|
rs1567865089
|
|
|
NM_001042492.3(NF1):c.4824T>G (p.Tyr1608Ter)
|
rs1567865089
|
|
|
NM_001042492.3(NF1):c.4824del (p.Tyr1607_Tyr1608insTer)
|
rs2151470332
|
|
|
NM_001042492.3(NF1):c.4831C>T (p.Arg1611Trp)
|
rs1060500316
|
|
|
NM_001042492.3(NF1):c.4832G>T (p.Arg1611Leu)
|
|
|
|
NM_001042492.3(NF1):c.4832_4834delinsAC (p.Arg1611fs)
|
rs1597753353
|
|
|
NM_001042492.3(NF1):c.4835+1G>A
|
rs1085307819
|
|
|
NM_001042492.3(NF1):c.4835+1G>C
|
|
|
|
NM_001042492.3(NF1):c.4835+1G>T
|
rs1085307819
|
|
|
NM_001042492.3(NF1):c.4835+2T>A
|
rs2067767535
|
|
|
NM_001042492.3(NF1):c.4835+2T>C
|
rs2067767535
|
|
|
NM_001042492.3(NF1):c.4835+2T>G
|
rs2067767535
|
|
|
NM_001042492.3(NF1):c.4836-10T>G
|
rs878853899
|
|
|
NM_001042492.3(NF1):c.4836-1G>A
|
rs1057518326
|
|
|
NM_001042492.3(NF1):c.4836-1G>C
|
rs1057518326
|
|
|
NM_001042492.3(NF1):c.4836-1G>T
|
rs1057518326
|
|
|
NM_001042492.3(NF1):c.4836-2A>C
|
rs1555533265
|
|
|
NM_001042492.3(NF1):c.4836-2A>G
|
|
|
|
NM_001042492.3(NF1):c.4836-2A>T
|
rs1555533265
|
|
|
NM_001042492.3(NF1):c.4836-2_4836del
|
rs2151537459
|
|
|
NM_001042492.3(NF1):c.4837_4840del (p.Phe1613fs)
|
rs2151537475
|
|
|
NM_001042492.3(NF1):c.4843del (p.Thr1615fs)
|
|
|
|
NM_001042492.3(NF1):c.4849_4853delinsATATCAG (p.Gln1617fs)
|
rs1597829519
|
|
|
NM_001042492.3(NF1):c.484C>T (p.Gln162Ter)
|
rs1555607073
|
|
|
NM_001042492.3(NF1):c.4856del (p.Asn1619fs)
|
rs2151537536
|
|
|
NM_001042492.3(NF1):c.4857del (p.Asn1619fs)
|
rs2151537542
|
|
|
NM_001042492.3(NF1):c.4860dup (p.Asp1621Ter)
|
rs2069325872
|
|
|
NM_001042492.3(NF1):c.4865T>A (p.Leu1622Ter)
|
|
|
|
NM_001042492.3(NF1):c.4865del (p.Leu1622fs)
|
rs2069325928
|
|
|
NM_001042492.3(NF1):c.4868dup (p.Ile1624fs)
|
|
|
|
NM_001042492.3(NF1):c.4871_4872insC (p.Tyr1625fs)
|
|
|
|
NM_001042492.3(NF1):c.4871del (p.Ile1624fs)
|
|
|
|
NM_001042492.3(NF1):c.4872_4874dup (p.Tyr1625Ter)
|
|
|
|
NM_001042492.3(NF1):c.4872dup (p.Tyr1625fs)
|
rs1597829557
|
|
|
NM_001042492.3(NF1):c.4873_4874dup (p.His1626fs)
|
rs1555533284
|
|
|
NM_001042492.3(NF1):c.4875C>A (p.Tyr1625Ter)
|
rs1555533285
|
|
|
NM_001042492.3(NF1):c.4875C>G (p.Tyr1625Ter)
|
rs1555533285
|
|
|
NM_001042492.3(NF1):c.4878del (p.His1626fs)
|
rs2151537626
|
|
|
NM_001042492.3(NF1):c.4878dup (p.Val1627fs)
|
rs2069326347
|
|
|
NM_001042492.3(NF1):c.487G>T (p.Glu163Ter)
|
rs2065903080
|
|
|
NM_001042492.3(NF1):c.4880T>A (p.Val1627Asp)
|
rs1567611231
|
|
|
NM_001042492.3(NF1):c.4881_4882dup (p.Leu1628fs)
|
|
|
|
NM_001042492.3(NF1):c.4883T>A (p.Leu1628Ter)
|
rs2069326534
|
|
|
NM_001042492.3(NF1):c.4883T>G (p.Leu1628Ter)
|
rs2069326534
|
|
|
NM_001042492.3(NF1):c.4883dup (p.Leu1628fs)
|
rs2151537647
|
|
|
NM_001042492.3(NF1):c.4886dup (p.Thr1630fs)
|
rs2151537662
|
|
|
NM_001042492.3(NF1):c.4888del (p.Thr1630fs)
|
rs2069326761
|
|
|
NM_001042492.3(NF1):c.4892T>A (p.Leu1631Ter)
|
|
|
|
NM_001042492.3(NF1):c.4892T>G (p.Leu1631Ter)
|
rs1555533292
|
|
|
NM_001042492.3(NF1):c.4892_4894del (p.Leu1631_Lys1632delinsTer)
|
|
|
|
NM_001042492.3(NF1):c.4892del (p.Thr1630_Leu1631insTer)
|
rs1555533290
|
|
|
NM_001042492.3(NF1):c.4894A>T (p.Lys1632Ter)
|
rs1597829604
|
|
|
NM_001042492.3(NF1):c.4902delinsAA (p.Tyr1634Ter)
|
|
|
|
NM_001042492.3(NF1):c.4903_4917del (p.Tyr1635_Tyr1639del)
|
rs2069327013
|
|
|
NM_001042492.3(NF1):c.4904_4905del (p.Tyr1635fs)
|
|
|
|
NM_001042492.3(NF1):c.4904_4905insAAT (p.Tyr1635Ter)
|
rs587781780
|
|
|
NM_001042492.3(NF1):c.4905T>G (p.Tyr1635Ter)
|
rs948982039
|
|
|
NM_001042492.3(NF1):c.4905del (p.Tyr1634_Tyr1635insTer)
|
|
|
|
NM_001042492.3(NF1):c.4913dup (p.Tyr1639fs)
|
|
|
|
NM_001042492.3(NF1):c.4915T>A (p.Tyr1639Asn)
|
rs2151537742
|
|
|
NM_001042492.3(NF1):c.4917T>A (p.Tyr1639Ter)
|
rs1555533297
|
|
|
NM_001042492.3(NF1):c.4917T>G (p.Tyr1639Ter)
|
|
|
|
NM_001042492.3(NF1):c.491T>G (p.Leu164Ter)
|
|
|
|
NM_001042492.3(NF1):c.4921del (p.Ile1641fs)
|
|
|
|
NM_001042492.3(NF1):c.4928del (p.Val1643fs)
|
rs2151537791
|
|
|
NM_001042492.3(NF1):c.492_495del (p.Thr165fs)
|
|
|
|
NM_001042492.3(NF1):c.4931A>C (p.Asp1644Ala)
|
rs2069327949
|
|
|
NM_001042492.3(NF1):c.4931A>G (p.Asp1644Gly)
|
rs2069327949
|
|
|
NM_001042492.3(NF1):c.4933_4934del (p.Leu1645fs)
|
|
|
|
NM_001042492.3(NF1):c.4933_4934insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAATTGTAGTGGACC (p.Leu1645delinsArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyTrpIleMetArgSerGlyAspArgAspHisProGlyTer)
|
rs2151537757
|
|
|
NM_001042492.3(NF1):c.4934T>C (p.Leu1645Pro)
|
rs1555533305
|
|
|
NM_001042492.3(NF1):c.4934T>G (p.Leu1645Arg)
|
rs1555533305
|
|
|
NM_001042492.3(NF1):c.4936A>C (p.Thr1646Pro)
|
|
|
|
NM_001042492.3(NF1):c.4944del (p.Pro1650fs)
|
rs2069328472
|
|
|
NM_001042492.3(NF1):c.4947del (p.Pro1650fs)
|
rs2151537841
|
|
|
NM_001042492.3(NF1):c.4947dup (p.Pro1650fs)
|
rs2151537841
|
|
|
NM_001042492.3(NF1):c.4957_4964del (p.Arg1653fs)
|
rs1597829749
|
|
|
NM_001042492.3(NF1):c.4963A>T (p.Lys1655Ter)
|
rs2069329312
|
|
|
NM_001042492.3(NF1):c.4965_4966del (p.Lys1655fs)
|
|
|
|
NM_001042492.3(NF1):c.4966del (p.Thr1656fs)
|
rs1567611351
|
|
|
NM_001042492.3(NF1):c.4967_4968del (p.Thr1656fs)
|
rs1555533323
|
|
|
NM_001042492.3(NF1):c.4968del (p.Asp1657fs)
|
rs2151537927
|
|
|
NM_001042492.3(NF1):c.496_497del (p.Val166fs)
|
rs1135402788
|
|
|
NM_001042492.3(NF1):c.4971del (p.Leu1659fs)
|
|
|
|
NM_001042492.3(NF1):c.4972_4985dup (p.Trp1662fs)
|
|
|
|
NM_001042492.3(NF1):c.4973_4974del (p.Phe1658fs)
|
rs2069329470
|
|
|
NM_001042492.3(NF1):c.4974del (p.Leu1659fs)
|
rs2069329470
|
|
|
NM_001042492.3(NF1):c.4974dup (p.Leu1659fs)
|
|
|
|
NM_001042492.3(NF1):c.4975del (p.Leu1659fs)
|
rs2151537953
|
|
|
NM_001042492.3(NF1):c.4977_4980del (p.Lys1661fs)
|
rs1085307459
|
|
|
NM_001042492.3(NF1):c.4977dup (p.Ser1660fs)
|
rs1597829782
|
|
|
NM_001042492.3(NF1):c.4980_4981insTT (p.Lys1661fs)
|
rs2069329774
|
|
|
NM_001042492.3(NF1):c.4980dup (p.Lys1661Ter)
|
rs2069329774
|
|
|
NM_001042492.3(NF1):c.4981A>T (p.Lys1661Ter)
|
rs2151537991
|
|
|
NM_001042492.3(NF1):c.4981_4984del (p.Lys1661fs)
|
rs2069329829
|
|
|
NM_001042492.3(NF1):c.4982_4983dup (p.Trp1662fs)
|
|
|
|
NM_001042492.3(NF1):c.4983_4985delinsCTTA (p.Lys1661fs)
|
rs1555533326
|
|
|
NM_001042492.3(NF1):c.4985G>A (p.Trp1662Ter)
|
rs1567611375
|
|
|
NM_001042492.3(NF1):c.4986G>A (p.Trp1662Ter)
|
rs2151538007
|
|
|
NM_001042492.3(NF1):c.4986del (p.Trp1662fs)
|
|
|
|
NM_001042492.3(NF1):c.4989_4992del (p.Phe1663fs)
|
|
|
|
NM_001042492.3(NF1):c.4989del (p.Phe1663fs)
|
rs1567611380
|
|
|
NM_001042492.3(NF1):c.4992del (p.Val1665fs)
|
|
|
|
NM_001042492.3(NF1):c.4997_4998del (p.Phe1666fs)
|
|
|
|
NM_001042492.3(NF1):c.4998del (p.Pro1667fs)
|
rs1135402867
|
|
|
NM_001042492.3(NF1):c.4998dup (p.Pro1667fs)
|
rs1135402867
|
|
|
NM_001042492.3(NF1):c.499_502del (p.Cys167fs)
|
rs786201874
|
|
|
NM_001042492.3(NF1):c.5006_5007dup (p.Ala1670fs)
|
|
|
|
NM_001042492.3(NF1):c.5012dup (p.Tyr1671Ter)
|
rs2151538116
|
|
|
NM_001042492.3(NF1):c.5013C>A (p.Tyr1671Ter)
|
rs1060500255
|
|
|
NM_001042492.3(NF1):c.5013C>G (p.Tyr1671Ter)
|
rs1060500255
|
|
|
NM_001042492.3(NF1):c.5013_5017dup (p.Asn1673fs)
|
rs1555533336
|
|
|
NM_001042492.3(NF1):c.5013del (p.Ala1670_Tyr1671insTer)
|
rs2069330560
|
|
|
NM_001042492.3(NF1):c.5016del (p.Asp1672fs)
|
rs2069330719
|
|
|
NM_001042492.3(NF1):c.501T>A (p.Cys167Ter)
|
rs2143707089
|
|
|
NM_001042492.3(NF1):c.5021_5024dup (p.Ala1676fs)
|
rs876660286
|
|
|
NM_001042492.3(NF1):c.5023_5024del (p.Ser1675fs)
|
rs876660286
|
|
|
NM_001042492.3(NF1):c.5029del (p.Val1677fs)
|
|
|
|
NM_001042492.3(NF1):c.5034T>A (p.Tyr1678Ter)
|
|
|
|
NM_001042492.3(NF1):c.5034T>G (p.Tyr1678Ter)
|
rs2069331323
|
|
|
NM_001042492.3(NF1):c.5034_5040del (p.Val1677_Tyr1678insTer)
|
|
|
|
NM_001042492.3(NF1):c.5035del (p.Ile1679fs)
|
rs2151538215
|
|
|
NM_001042492.3(NF1):c.5037_5040del (p.Tyr1680fs)
|
|
|
|
NM_001042492.3(NF1):c.5039_5041delinsT (p.Tyr1680fs)
|
rs1567611457
|
|
|
NM_001042492.3(NF1):c.503C>A (p.Ser168Ter)
|
|
|
|
NM_001042492.3(NF1):c.503C>G (p.Ser168Ter)
|
rs1131691994
|
|
|
NM_001042492.3(NF1):c.503dup (p.Glu169fs)
|
|
|
|
NM_001042492.3(NF1):c.5040T>A (p.Tyr1680Ter)
|
rs1555533351
|
|
|
NM_001042492.3(NF1):c.5040T>G (p.Tyr1680Ter)
|
rs1555533351
|
|
|
NM_001042492.3(NF1):c.5040dup (p.Asn1681Ter)
|
|
|
|
NM_001042492.3(NF1):c.5042dup (p.Asn1681fs)
|
rs2151538243
|
|
|
NM_001042492.3(NF1):c.5044T>C (p.Cys1682Arg)
|
rs1597829901
|
|
|
NM_001042492.3(NF1):c.5045_5046del (p.Asn1681_Cys1682insTer)
|
rs1597829906
|
|
|
NM_001042492.3(NF1):c.5046T>A (p.Cys1682Ter)
|
|
|
|
NM_001042492.3(NF1):c.5046_5047insG (p.Asn1683fs)
|
|
|
|
NM_001042492.3(NF1):c.5046del (p.Asn1681_Cys1682insTer)
|
|
|
|
NM_001042492.3(NF1):c.5046delinsGGTTAC (p.Cys1682fs)
|
rs1597829913
|
|
|
NM_001042492.3(NF1):c.5046dup (p.Asn1683Ter)
|
rs1597829913
|
|
|
NM_001042492.3(NF1):c.5049C>A (p.Asn1683Lys)
|
|
|
|
NM_001042492.3(NF1):c.5049C>G (p.Asn1683Lys)
|
rs140994965
|
|
|
NM_001042492.3(NF1):c.5049_5059del (p.Asn1683fs)
|
rs2069331850
|
|
|
NM_001042492.3(NF1):c.5054G>A (p.Trp1685Ter)
|
|
|
|
NM_001042492.3(NF1):c.5054_5058del (p.Ser1684_Trp1685insTer)
|
|
|
|
NM_001042492.3(NF1):c.5055G>A (p.Trp1685Ter)
|
rs1555533354
|
|
|
NM_001042492.3(NF1):c.5056del (p.Val1686fs)
|
|
|
|
NM_001042492.3(NF1):c.5062G>T (p.Glu1688Ter)
|
rs1135402869
|
|
|
NM_001042492.3(NF1):c.5063_5066dup (p.Tyr1689Ter)
|
rs2151538327
|
|
|
NM_001042492.3(NF1):c.5067C>A (p.Tyr1689Ter)
|
rs756708811
|
|
|
NM_001042492.3(NF1):c.5067C>G (p.Tyr1689Ter)
|
|
|
|
NM_001042492.3(NF1):c.5071A>T (p.Lys1691Ter)
|
|
|
|
NM_001042492.3(NF1):c.5074dup (p.Tyr1692fs)
|
|
|
|
NM_001042492.3(NF1):c.5075del (p.Tyr1692fs)
|
rs2069332805
|
|
|
NM_001042492.3(NF1):c.5076T>A (p.Tyr1692Ter)
|
rs1597829961
|
|
|
NM_001042492.3(NF1):c.5080G>T (p.Glu1694Ter)
|
|
|
|
NM_001042492.3(NF1):c.5083_5084dup (p.Leu1696fs)
|
rs1555533366
|
|
|
NM_001042492.3(NF1):c.5087del (p.Leu1696fs)
|
rs1555533368
|
|
|
NM_001042492.3(NF1):c.5090dup (p.Thr1698fs)
|
rs2151538435
|
|
|
NM_001042492.3(NF1):c.5092_5095del (p.Thr1698fs)
|
rs2069333368
|
|
|
NM_001042492.3(NF1):c.5103_5104del (p.Lys1701_Gly1702insTer)
|
|
|
|
NM_001042492.3(NF1):c.5110A>T (p.Lys1704Ter)
|
|
|
|
NM_001042492.3(NF1):c.5115del (p.Arg1705fs)
|
|
|
|
NM_001042492.3(NF1):c.5115dup (p.Leu1706fs)
|
|
|
|
NM_001042492.3(NF1):c.5119_5126del (p.Val1707fs)
|
rs2151538552
|
|
|
NM_001042492.3(NF1):c.5121_5133del (p.Phe1708fs)
|
|
|
|
NM_001042492.3(NF1):c.5124del (p.Phe1708fs)
|
|
|
|
NM_001042492.3(NF1):c.5126_5127delinsG (p.Ile1709fs)
|
|
|
|
NM_001042492.3(NF1):c.512del (p.Asn171fs)
|
|
|
|
NM_001042492.3(NF1):c.5130_5131del (p.Asp1710fs)
|
|
|
|
NM_001042492.3(NF1):c.5130del (p.Cys1711fs)
|
rs1597830078
|
|
|
NM_001042492.3(NF1):c.5134_5135del (p.Pro1712fs)
|
rs2151538635
|
|
|
NM_001042492.3(NF1):c.5135del (p.Pro1712fs)
|
rs2151538630
|
|
|
NM_001042492.3(NF1):c.5139del (p.Lys1714fs)
|
|
|
|
NM_001042492.3(NF1):c.513del (p.Asn171fs)
|
rs2143707235
|
|
|
NM_001042492.3(NF1):c.5144T>C (p.Leu1715Pro)
|
rs2151538677
|
|
|
NM_001042492.3(NF1):c.514_515dup (p.Asp173fs)
|
|
|
|
NM_001042492.3(NF1):c.5154_5155del (p.Ile1719fs)
|
|
|
|
NM_001042492.3(NF1):c.5156_5157del (p.Ile1719fs)
|
|
|
|
NM_001042492.3(NF1):c.5156dup (p.Glu1720fs)
|
|
|
|
NM_001042492.3(NF1):c.5157del (p.Ile1719fs)
|
rs1555533382
|
|
|
NM_001042492.3(NF1):c.5157dup (p.Glu1720fs)
|
|
|
|
NM_001042492.3(NF1):c.5158G>T (p.Glu1720Ter)
|
rs2069335393
|
|
|
NM_001042492.3(NF1):c.5158del (p.Glu1720fs)
|
rs2151538733
|
|
|
NM_001042492.3(NF1):c.5167C>T (p.Gln1723Ter)
|
rs766727694
|
|
|
NM_001042492.3(NF1):c.5170C>T (p.Gln1724Ter)
|
|
|
|
NM_001042492.3(NF1):c.5172_5173del (p.Lys1725fs)
|
rs2069336015
|
|
|
NM_001042492.3(NF1):c.5175del (p.Lys1725fs)
|
rs2151538793
|
|
|
NM_001042492.3(NF1):c.5178del (p.Pro1727fs)
|
rs1555533393
|
|
|
NM_001042492.3(NF1):c.517del (p.Asp173fs)
|
rs1597643815
|
|
|
NM_001042492.3(NF1):c.5180del (p.Pro1727fs)
|
|
|
|
NM_001042492.3(NF1):c.5181dup (p.Ala1728fs)
|
|
|
|
NM_001042492.3(NF1):c.5186_5187insG (p.Thr1730fs)
|
|
|
|
NM_001042492.3(NF1):c.5186_5190del (p.Ala1729fs)
|
rs2151538841
|
|
|
NM_001042492.3(NF1):c.5192T>A (p.Leu1731Ter)
|
rs1567611604
|
|
|
NM_001042492.3(NF1):c.5196_5199del (p.Leu1733fs)
|
|
|
|
NM_001042492.3(NF1):c.5198T>A (p.Leu1733Ter)
|
rs2069336790
|
|
|
NM_001042492.3(NF1):c.5198T>G (p.Leu1733Ter)
|
rs2069336790
|
|
|
NM_001042492.3(NF1):c.5199_5204AGA[2]CCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAGAAGA[1] (p.Glu1735delinsAspHisProGlyTer)
|
|
|
|
NM_001042492.3(NF1):c.5199_5230delinsTGCT (p.Leu1733fs)
|
rs2069336948
|
|
|
NM_001042492.3(NF1):c.5199dup (p.Glu1734fs)
|
rs1597830232
|
|
|
NM_001042492.3(NF1):c.5200G>T (p.Glu1734Ter)
|
|
|
|
NM_001042492.3(NF1):c.5203G>T (p.Glu1735Ter)
|
rs2151538896
|
|
|
NM_001042492.3(NF1):c.5204_5205del (p.Glu1735fs)
|
|
|
|
NM_001042492.3(NF1):c.5204del (p.Glu1735fs)
|
|
|
|
NM_001042492.3(NF1):c.520del (p.Val174fs)
|
|
|
|
NM_001042492.3(NF1):c.5212A>T (p.Lys1738Ter)
|
|
|
|
NM_001042492.3(NF1):c.5215_5216del (p.Val1739fs)
|
|
|
|
NM_001042492.3(NF1):c.5223dup (p.Asn1742fs)
|
|
|
|
NM_001042492.3(NF1):c.5237_5238insG (p.Ala1747fs)
|
|
|
|
NM_001042492.3(NF1):c.5241_5242dup (p.His1748fs)
|
|
|
|
NM_001042492.3(NF1):c.5246_5247del (p.Lys1749fs)
|
rs1555533409
|
|
|
NM_001042492.3(NF1):c.5247dup (p.Asp1750fs)
|
rs1555533409
|
|
|
NM_001042492.3(NF1):c.5249del (p.Asp1750fs)
|
|
|
|
NM_001042492.3(NF1):c.5251dup (p.Thr1751fs)
|
rs2151539064
|
|
|
NM_001042492.3(NF1):c.5255_5256del (p.Lys1752fs)
|
rs2069338311
|
|
|
NM_001042492.3(NF1):c.5256del (p.Val1753fs)
|
rs2069338311
|
|
|
NM_001042492.3(NF1):c.5259_5260del (p.Ser1754fs)
|
rs2151539085
|
|
|
NM_001042492.3(NF1):c.5261del (p.Ser1754fs)
|
rs2151539102
|
|
|
NM_001042492.3(NF1):c.5262_5268del (p.Ile1755fs)
|
rs2151539106
|
|
|
NM_001042492.3(NF1):c.5264_5265dup (p.Lys1756fs)
|
rs2151539112
|
|
|
NM_001042492.3(NF1):c.5265_5268del (p.Ile1755fs)
|
|
|
|
NM_001042492.3(NF1):c.5265del (p.Val1757fs)
|
|
|
|
NM_001042492.3(NF1):c.5266A>T (p.Lys1756Ter)
|
|
|
|
NM_001042492.3(NF1):c.5267_5268del (p.Lys1756fs)
|
rs2151539120
|
|
|
NM_001042492.3(NF1):c.5268+1G>A
|
|
|
|
NM_001042492.3(NF1):c.5268+1G>T
|
rs2069338793
|
|
|
NM_001042492.3(NF1):c.5268+1del
|
rs2151539137
|
|
|
NM_001042492.3(NF1):c.5268+2T>C
|
rs1555533416
|
|
|
NM_001042492.3(NF1):c.5268+2T>G
|
rs1555533416
|
|
|
NM_001042492.3(NF1):c.5268+3_5268+6del
|
|
|
|
NM_001042492.3(NF1):c.5268+4del
|
rs2151539144
|
|
|
NM_001042492.3(NF1):c.5268+5G>A
|
rs864622551
|
|
|
NM_001042492.3(NF1):c.5268_5268+1delinsCA
|
rs2151539134
|
|
|
NM_001042492.3(NF1):c.5269-14C>G
|
rs753463683
|
|
|
NM_001042492.3(NF1):c.5269-19C>A
|
rs755620051
|
|
|
NM_001042492.3(NF1):c.5269-1G>A
|
rs876660141
|
|
|
NM_001042492.3(NF1):c.5269-2A>G
|
rs1555533548
|
|
|
NM_001042492.3(NF1):c.5269-2A>T
|
rs1555533548
|
|
|
NM_001042492.3(NF1):c.5269-41_5291del
|
rs1555533543
|
|
|
NM_001042492.3(NF1):c.5269-8C>G
|
rs1597831805
|
|
|
NM_001042492.3(NF1):c.5270T>G (p.Val1757Gly)
|
rs1021835871
|
|
|
NM_001042492.3(NF1):c.5272_5273dup (p.Ser1759fs)
|
|
|
|
NM_001042492.3(NF1):c.5273_5276dup (p.Thr1760fs)
|
rs2151540775
|
|
|
NM_001042492.3(NF1):c.5285del (p.Val1762fs)
|
|
|
|
NM_001042492.3(NF1):c.5286_5289del (p.Val1762_Gln1763insTer)
|
rs1597831854
|
|
|
NM_001042492.3(NF1):c.5287C>T (p.Gln1763Ter)
|
rs2069375606
|
|
|
NM_001042492.3(NF1):c.5287del (p.Gln1763fs)
|
rs2151540817
|
|
|
NM_001042492.3(NF1):c.5290del (p.Gln1763_Val1764insTer)
|
rs2151540840
|
|
|
NM_001042492.3(NF1):c.5295_5296del (p.Ala1767fs)
|
rs1555533552
|
|
|
NM_001042492.3(NF1):c.5297C>A (p.Ser1766Ter)
|
rs1555533555
|
|
|
NM_001042492.3(NF1):c.5297C>G (p.Ser1766Ter)
|
rs1555533555
|
|
|
NM_001042492.3(NF1):c.529dup (p.Ile177fs)
|
rs1555607093
|
|
|
NM_001042492.3(NF1):c.5301del (p.Glu1768fs)
|
|
|
|
NM_001042492.3(NF1):c.5302G>T (p.Glu1768Ter)
|
|
|
|
NM_001042492.3(NF1):c.5303del (p.Glu1768fs)
|
|
|
|
NM_001042492.3(NF1):c.5305C>T (p.Arg1769Ter)
|
rs876657714
|
|
|
NM_001042492.3(NF1):c.5308del (p.Thr1770fs)
|
rs2069376216
|
|
|
NM_001042492.3(NF1):c.530_531dup (p.Glu178Ter)
|
|
|
|
NM_001042492.3(NF1):c.5311A>G (p.Lys1771Glu)
|
rs1131691103
|
|
|
NM_001042492.3(NF1):c.5313del (p.Val1772fs)
|
rs2151540910
|
|
|
NM_001042492.3(NF1):c.5314_5339del (p.Lys1771_Val1772insTer)
|
rs2069376426
|
|
|
NM_001042492.3(NF1):c.5315T>A (p.Val1772Asp)
|
rs1209831572
|
|
|
NM_001042492.3(NF1):c.5317dup (p.Leu1773fs)
|
rs1555533561
|
|
|
NM_001042492.3(NF1):c.5318_5319del (p.Leu1773fs)
|
|
|
|
NM_001042492.3(NF1):c.5320_5324dup (p.Ser1776fs)
|
rs1555533562
|
|
|
NM_001042492.3(NF1):c.5322del (p.Gln1775fs)
|
|
|
|
NM_001042492.3(NF1):c.5323C>T (p.Gln1775Ter)
|
rs2151540968
|
|
|
NM_001042492.3(NF1):c.5325_5328del (p.Val1777fs)
|
|
|
|
NM_001042492.3(NF1):c.5327C>G (p.Ser1776Ter)
|
rs2069376973
|
|
|
NM_001042492.3(NF1):c.5327del (p.Gln1775_Ser1776insTer)
|
rs1131691128
|
|
|
NM_001042492.3(NF1):c.5329del (p.Val1777fs)
|
rs2069377259
|
|
|
NM_001042492.3(NF1):c.5333_5334del (p.Phe1778fs)
|
rs1555533566
|
|
|
NM_001042492.3(NF1):c.5334del (p.Phe1778_Leu1779insTer)
|
rs1555533566
|
|
|
NM_001042492.3(NF1):c.5335del (p.Phe1778_Leu1779insTer)
|
|
|
|
NM_001042492.3(NF1):c.5342del (p.Asp1781fs)
|
|
|
|
NM_001042492.3(NF1):c.5347_5350del (p.Tyr1783fs)
|
|
|
|
NM_001042492.3(NF1):c.5347del (p.Tyr1783fs)
|
rs1567612415
|
|
|
NM_001042492.3(NF1):c.5349T>A (p.Tyr1783Ter)
|
|
|
|
NM_001042492.3(NF1):c.5349T>G (p.Tyr1783Ter)
|
rs2151541056
|
|
|
NM_001042492.3(NF1):c.5351del (p.Tyr1784fs)
|
|
|
|
NM_001042492.3(NF1):c.5352T>A (p.Tyr1784Ter)
|
|
|
|
NM_001042492.3(NF1):c.5356del (p.Ser1786fs)
|
|
|
|
NM_001042492.3(NF1):c.5357C>A (p.Ser1786Ter)
|
rs1555533569
|
|
|
NM_001042492.3(NF1):c.5359G>T (p.Glu1787Ter)
|
rs2151541088
|
|
|
NM_001042492.3(NF1):c.5364del (p.Ile1788fs)
|
rs1597831986
|
|
|
NM_001042492.3(NF1):c.5365G>T (p.Glu1789Ter)
|
|
|
|
NM_001042492.3(NF1):c.5368G>T (p.Glu1790Ter)
|
rs1597831990
|
|
|
NM_001042492.3(NF1):c.5376C>A (p.Cys1792Ter)
|
rs1597832002
|
|
|
NM_001042492.3(NF1):c.5376_5379dup (p.Val1794fs)
|
rs1567612435
|
|
|
NM_001042492.3(NF1):c.5378_5426dup (p.Pro1809_Leu1810insSerArgTer)
|
rs2151541145
|
|
|
NM_001042492.3(NF1):c.5378dup (p.Val1794fs)
|
|
|
|
NM_001042492.3(NF1):c.5379_5380dup (p.Val1794fs)
|
rs1597832021
|
|
|
NM_001042492.3(NF1):c.5386G>T (p.Glu1796Ter)
|
|
|
|
NM_001042492.3(NF1):c.5389_5390dup (p.Asn1797fs)
|
|
|
|
NM_001042492.3(NF1):c.538_541del (p.Leu180fs)
|
rs1135402789
|
|
|
NM_001042492.3(NF1):c.5390del (p.Asn1797fs)
|
rs2151541194
|
|
|
NM_001042492.3(NF1):c.5392C>T (p.Gln1798Ter)
|
rs1597832043
|
|
|
NM_001042492.3(NF1):c.539T>A (p.Leu180Ter)
|
rs2143707605
|
|
|
NM_001042492.3(NF1):c.539dup (p.Leu180fs)
|
|
|
|
NM_001042492.3(NF1):c.5400del (p.Thr1800_Leu1801insTer)
|
|
|
|
NM_001042492.3(NF1):c.5402T>G (p.Leu1801Ter)
|
rs2151541233
|
|
|
NM_001042492.3(NF1):c.5404del (p.Thr1802fs)
|
rs1597832056
|
|
|
NM_001042492.3(NF1):c.5409del (p.Ile1803fs)
|
rs2151541264
|
|
|
NM_001042492.3(NF1):c.540dup (p.Gln181fs)
|
rs2065904037
|
|
|
NM_001042492.3(NF1):c.5416C>T (p.Gln1806Ter)
|
rs2151541286
|
|
|
NM_001042492.3(NF1):c.5416dup (p.Gln1806fs)
|
|
|
|
NM_001042492.3(NF1):c.5417del (p.Gln1806fs)
|
|
|
|
NM_001042492.3(NF1):c.541C>T (p.Gln181Ter)
|
rs753529924
|
|
|
NM_001042492.3(NF1):c.541del (p.Gln181fs)
|
|
|
|
NM_001042492.3(NF1):c.5427dup (p.Leu1810fs)
|
rs1567612483
|
|
|
NM_001042492.3(NF1):c.5431_5449del (p.Thr1811fs)
|
rs1567612488
|
|
|
NM_001042492.3(NF1):c.5435_5469dup (p.Ile1824fs)
|
|
|
|
NM_001042492.3(NF1):c.5443C>T (p.Gln1815Ter)
|
rs1555533587
|
|
|
NM_001042492.3(NF1):c.5446G>T (p.Glu1816Ter)
|
rs2069380852
|
|
|
NM_001042492.3(NF1):c.5447del (p.Glu1816fs)
|
|
|
|
NM_001042492.3(NF1):c.544_550del (p.Tyr182fs)
|
rs2143707713
|
|
|
NM_001042492.3(NF1):c.5452G>T (p.Glu1818Ter)
|
rs2151541394
|
|
|
NM_001042492.3(NF1):c.5458_5461del (p.Ile1820fs)
|
|
|
|
NM_001042492.3(NF1):c.5460dup (p.Val1821fs)
|
rs2151541422
|
|
|
NM_001042492.3(NF1):c.5461del (p.Val1821fs)
|
rs1567612531
|
|
|
NM_001042492.3(NF1):c.5464C>T (p.Gln1822Ter)
|
rs2069381323
|
|
|
NM_001042492.3(NF1):c.5469_5470insTT (p.Ile1824fs)
|
rs267606605
|
|
|
NM_001042492.3(NF1):c.5469dup (p.Ile1824fs)
|
rs267606605
|
|
|
NM_001042492.3(NF1):c.546T>G (p.Tyr182Ter)
|
|
|
|
NM_001042492.3(NF1):c.546dup (p.Ile183fs)
|
rs2143707749
|
|
|
NM_001042492.3(NF1):c.5470_5474del (p.Ile1824fs)
|
|
|
|
NM_001042492.3(NF1):c.5473_5506del (p.Ile1825fs)
|
rs2151541479
|
|
|
NM_001042492.3(NF1):c.5475_5478del (p.His1826fs)
|
rs2151541475
|
|
|
NM_001042492.3(NF1):c.547_548dup (p.Asn184fs)
|
|
|
|
NM_001042492.3(NF1):c.5482_5488del (p.Arg1828fs)
|
|
|
|
NM_001042492.3(NF1):c.5484del (p.Thr1829fs)
|
|
|
|
NM_001042492.3(NF1):c.5484dup (p.Thr1829fs)
|
|
|
|
NM_001042492.3(NF1):c.5485del (p.Thr1829fs)
|
rs2151541526
|
|
|
NM_001042492.3(NF1):c.5488C>A (p.Arg1830Ser)
|
rs797045139
|
|
|
NM_001042492.3(NF1):c.5488C>G (p.Arg1830Gly)
|
rs797045139
|
|
|
NM_001042492.3(NF1):c.5489G>C (p.Arg1830Pro)
|
rs771529172
|
|
|
NM_001042492.3(NF1):c.5489G>T (p.Arg1830Leu)
|
rs771529172
|
|
|
NM_001042492.3(NF1):c.548T>A (p.Ile183Asn)
|
rs2143707759
|
|
|
NM_001042492.3(NF1):c.5492G>A (p.Trp1831Ter)
|
rs1135402872
|
|
|
NM_001042492.3(NF1):c.5493G>A (p.Trp1831Ter)
|
rs2069382585
|
|
|
NM_001042492.3(NF1):c.5494G>T (p.Glu1832Ter)
|
rs2069382639
|
|
|
NM_001042492.3(NF1):c.5494del (p.Glu1832fs)
|
rs1597832223
|
|
|
NM_001042492.3(NF1):c.5496del (p.Glu1832fs)
|
rs2151541558
|
|
|
NM_001042492.3(NF1):c.5497_5498del (p.Leu1833fs)
|
rs2151541563
|
|
|
NM_001042492.3(NF1):c.5498T>C (p.Leu1833Pro)
|
rs2151541565
|
|
|
NM_001042492.3(NF1):c.5501C>G (p.Ser1834Ter)
|
rs1597832235
|
|
|
NM_001042492.3(NF1):c.5503C>T (p.Gln1835Ter)
|
rs786202177
|
|
|
NM_001042492.3(NF1):c.5503_5530dup (p.Lys1844fs)
|
rs2151541577
|
|
|
NM_001042492.3(NF1):c.5508del (p.Asp1837fs)
|
|
|
|
NM_001042492.3(NF1):c.5511dup (p.Ser1838fs)
|
rs267606596
|
|
|
NM_001042492.3(NF1):c.5513_5514del (p.Ser1838fs)
|
|
|
|
NM_001042492.3(NF1):c.5514_5517del (p.Ile1839fs)
|
rs1555533621
|
|
|
NM_001042492.3(NF1):c.5514dup (p.Ile1839fs)
|
|
|
|
NM_001042492.3(NF1):c.5515_5516del (p.Ile1839fs)
|
rs2151541621
|
|
|
NM_001042492.3(NF1):c.5516del (p.Ile1839fs)
|
rs1597832304
|
|
|
NM_001042492.3(NF1):c.5516dup (p.Gln1841fs)
|
|
|
|
NM_001042492.3(NF1):c.551del (p.Asn184fs)
|
rs1555607102
|
|
|
NM_001042492.3(NF1):c.5520_5521del (p.Gln1841fs)
|
|
|
|
NM_001042492.3(NF1):c.5521C>T (p.Gln1841Ter)
|
rs786203570
|
|
|
NM_001042492.3(NF1):c.5521del (p.Gln1841fs)
|
rs2069383586
|
|
|
NM_001042492.3(NF1):c.5521dup (p.Gln1841fs)
|
rs2069383586
|
|
|
NM_001042492.3(NF1):c.5527_5528del (p.Thr1843fs)
|
|
|
|
NM_001042492.3(NF1):c.5528_5529insT (p.Lys1844fs)
|
rs267606597
|
|
|
NM_001042492.3(NF1):c.5529del (p.Lys1844fs)
|
|
|
|
NM_001042492.3(NF1):c.5529dup (p.Lys1844fs)
|
rs1555533628
|
|
|
NM_001042492.3(NF1):c.5532_5542del (p.Ile1845fs)
|
|
|
|
NM_001042492.3(NF1):c.5533A>T (p.Ile1845Phe)
|
rs1567612641
|
|
|
NM_001042492.3(NF1):c.5533dup (p.Ile1845fs)
|
rs1597832360
|
|
|
NM_001042492.3(NF1):c.5534T>C (p.Ile1845Thr)
|
rs1060500339
|
|
|
NM_001042492.3(NF1):c.5534T>G (p.Ile1845Ser)
|
rs1060500339
|
|
|
NM_001042492.3(NF1):c.5535del (p.Arg1846fs)
|
rs1567612647
|
|
|
NM_001042492.3(NF1):c.5540C>T (p.Pro1847Leu)
|
rs1555533631
|
|
|
NM_001042492.3(NF1):c.5541_5547del (p.Lys1848fs)
|
rs1064796631
|
|
|
NM_001042492.3(NF1):c.5542A>T (p.Lys1848Ter)
|
|
|
|
NM_001042492.3(NF1):c.5544del (p.Asp1849fs)
|
|
|
|
NM_001042492.3(NF1):c.5545G>T (p.Asp1849Tyr)
|
|
|
|
NM_001042492.3(NF1):c.5546A>T (p.Asp1849Val)
|
rs1170679293
|
|
|
NM_001042492.3(NF1):c.5546_5553del (p.Asp1849fs)
|
rs1135402873
|
|
|
NM_001042492.3(NF1):c.5548_5549del (p.Val1850fs)
|
rs1555533636
|
|
|
NM_001042492.3(NF1):c.5549_5554del (p.Val1850_Pro1851del)
|
|
|
|
NM_001042492.3(NF1):c.5551C>T (p.Pro1851Ser)
|
rs267604793
|
|
|
NM_001042492.3(NF1):c.5552C>T (p.Pro1851Leu)
|
rs1555533638
|
|
|
NM_001042492.3(NF1):c.5552del (p.Pro1851fs)
|
|
|
|
NM_001042492.3(NF1):c.5559_5560dup (p.Leu1854fs)
|
|
|
|
NM_001042492.3(NF1):c.5561T>G (p.Leu1854Arg)
|
rs878853903
|
|
|
NM_001042492.3(NF1):c.5561del (p.Leu1854fs)
|
rs1555533644
|
|
|
NM_001042492.3(NF1):c.5567del (p.Asn1856fs)
|
|
|
|
NM_001042492.3(NF1):c.5571_5572delinsT (p.Ala1858fs)
|
rs1135402875
|
|
|
NM_001042492.3(NF1):c.5576T>G (p.Leu1859Ter)
|
rs2151541835
|
|
|
NM_001042492.3(NF1):c.5578del (p.Asn1861fs)
|
|
|
|
NM_001042492.3(NF1):c.5581_5584del (p.Leu1860_Asn1861insTer)
|
|
|
|
NM_001042492.3(NF1):c.5582dup (p.Asn1861fs)
|
rs2069385970
|
|
|
NM_001042492.3(NF1):c.5585T>A (p.Leu1862Ter)
|
rs2151541881
|
|
|
NM_001042492.3(NF1):c.5585T>G (p.Leu1862Ter)
|
rs2151541881
|
|
|
NM_001042492.3(NF1):c.5586del (p.Gly1863fs)
|
rs1555533648
|
|
|
NM_001042492.3(NF1):c.5594_5595del (p.Ser1864_Ser1865insTer)
|
rs1555533650
|
|
|
NM_001042492.3(NF1):c.5597del (p.Asp1866fs)
|
rs2151541931
|
|
|
NM_001042492.3(NF1):c.5606T>A (p.Leu1869Ter)
|
|
|
|
NM_001042492.3(NF1):c.5606T>G (p.Leu1869Ter)
|
rs1597832482
|
|
|
NM_001042492.3(NF1):c.5606del (p.Leu1869fs)
|
|
|
|
NM_001042492.3(NF1):c.5609+1G>A
|
rs1131691117
|
|
|
NM_001042492.3(NF1):c.5609+1G>C
|
rs1131691117
|
|
|
NM_001042492.3(NF1):c.5609+1G>T
|
rs1131691117
|
|
|
NM_001042492.3(NF1):c.5609+2T>C
|
|
|
|
NM_001042492.3(NF1):c.5609+2T>G
|
rs2069386858
|
|
|
NM_001042492.3(NF1):c.5609+336_6006+244del
|
|
|
|
NM_001042492.3(NF1):c.5609+5G>A
|
rs1597832498
|
|
|
NM_001042492.3(NF1):c.5609+5G>T
|
rs1597832498
|
|
|
NM_001042492.3(NF1):c.5609G>A (p.Arg1870Gln)
|
rs786202112
|
|
|
NM_001042492.3(NF1):c.5609G>C (p.Arg1870Pro)
|
|
|
|
NM_001042492.3(NF1):c.5609G>T (p.Arg1870Leu)
|
rs786202112
|
|
|
NM_001042492.3(NF1):c.560del (p.Cys187fs)
|
rs1555607107
|
|
|
NM_001042492.3(NF1):c.5610-1G>C
|
rs1567613569
|
|
|
NM_001042492.3(NF1):c.5610-1G>T
|
|
|
|
NM_001042492.3(NF1):c.5610-2A>G
|
rs1135402876
|
|
|
NM_001042492.3(NF1):c.5610-2A>T
|
rs1135402876
|
|
|
NM_001042492.3(NF1):c.5612C>G (p.Ser1871Ter)
|
|
|
|
NM_001042492.3(NF1):c.5617del (p.Ala1873fs)
|
|
|
|
NM_001042492.3(NF1):c.5619del (p.Tyr1874fs)
|
rs1555533842
|
|
|
NM_001042492.3(NF1):c.5619dup (p.Tyr1874fs)
|
rs1555533842
|
|
|
NM_001042492.3(NF1):c.5622_5623dup (p.Asn1875fs)
|
|
|
|
NM_001042492.3(NF1):c.5622dup (p.Asn1875Ter)
|
|
|
|
NM_001042492.3(NF1):c.5625_5630delinsG (p.Asn1875fs)
|
rs1131691081
|
|
|
NM_001042492.3(NF1):c.5629_5630del (p.Leu1877fs)
|
rs2069448326
|
|
|
NM_001042492.3(NF1):c.5629del (p.Leu1877fs)
|
rs2151544432
|
|
|
NM_001042492.3(NF1):c.5629dup (p.Leu1877fs)
|
rs2069448374
|
|
|
NM_001042492.3(NF1):c.5630T>C (p.Leu1877Pro)
|
|
|
|
NM_001042492.3(NF1):c.5630dup (p.Cys1878fs)
|
rs2069448473
|
|
|
NM_001042492.3(NF1):c.5634_5635del (p.Ala1879fs)
|
rs2069448538
|
|
|
NM_001042492.3(NF1):c.5637del (p.Ala1879_Leu1880insTer)
|
rs1135402877
|
|
|
NM_001042492.3(NF1):c.5639T>A (p.Leu1880Ter)
|
|
|
|
NM_001042492.3(NF1):c.5639T>G (p.Leu1880Ter)
|
rs1567613595
|
|
|
NM_001042492.3(NF1):c.5639dup (p.Leu1880fs)
|
rs2069448879
|
|
|
NM_001042492.3(NF1):c.5641del (p.Thr1881fs)
|
|
|
|
NM_001042492.3(NF1):c.5645dup (p.Cys1882fs)
|
rs1567613604
|
|
|
NM_001042492.3(NF1):c.5650T>C (p.Phe1884Leu)
|
rs1060500378
|
|
|
NM_001042492.3(NF1):c.5652T>G (p.Phe1884Leu)
|
rs1567613616
|
|
|
NM_001042492.3(NF1):c.5654del (p.Asn1885fs)
|
rs2151544511
|
|
|
NM_001042492.3(NF1):c.5654dup (p.Asn1885fs)
|
rs2151544511
|
|
|
NM_001042492.3(NF1):c.5655_5659del (p.Asn1885fs)
|
|
|
|
NM_001042492.3(NF1):c.5656_5678del (p.Leu1886fs)
|
rs2151544520
|
|
|
NM_001042492.3(NF1):c.5657T>A (p.Leu1886Ter)
|
rs1555533853
|
|
|
NM_001042492.3(NF1):c.5662del (p.Ile1888fs)
|
rs2069449497
|
|
|
NM_001042492.3(NF1):c.5665G>T (p.Glu1889Ter)
|
rs764782945
|
|
|
NM_001042492.3(NF1):c.5668G>T (p.Gly1890Cys)
|
rs1597834706
|
|
|
NM_001042492.3(NF1):c.5669G>C (p.Gly1890Ala)
|
rs1567613630
|
|
|
NM_001042492.3(NF1):c.5669G>T (p.Gly1890Val)
|
rs1567613630
|
|
|
NM_001042492.3(NF1):c.5669_5690del (p.Gly1890fs)
|
rs1597834703
|
|
|
NM_001042492.3(NF1):c.5669del (p.Gly1890fs)
|
|
|
|
NM_001042492.3(NF1):c.5671C>T (p.Gln1891Ter)
|
rs878853904
|
|
|
NM_001042492.3(NF1):c.5672_5673insAA (p.Leu1892fs)
|
rs1135402878
|
|
|
NM_001042492.3(NF1):c.5672dup (p.Leu1892fs)
|
rs1135402878
|
|
|
NM_001042492.3(NF1):c.5675T>A (p.Leu1892Ter)
|
rs2069450324
|
|
|
NM_001042492.3(NF1):c.5675dup (p.Leu1892fs)
|
|
|
|
NM_001042492.3(NF1):c.5676dup (p.Leu1893fs)
|
rs1475358670
|
|
|
NM_001042492.3(NF1):c.567dup (p.Leu190fs)
|
|
|
|
NM_001042492.3(NF1):c.5680G>T (p.Glu1894Ter)
|
rs774893767
|
|
|
NM_001042492.3(NF1):c.5686dup (p.Ser1896fs)
|
|
|
|
NM_001042492.3(NF1):c.5687C>A (p.Ser1896Ter)
|
rs1135402879
|
|
|
NM_001042492.3(NF1):c.5687C>G (p.Ser1896Ter)
|
rs1135402879
|
|
|
NM_001042492.3(NF1):c.5687del (p.Thr1895_Ser1896insTer)
|
|
|
|
NM_001042492.3(NF1):c.5690del (p.Gly1897fs)
|
rs2151544622
|
|
|
NM_001042492.3(NF1):c.5693del (p.Leu1898fs)
|
|
|
|
NM_001042492.3(NF1):c.5697T>A (p.Cys1899Ter)
|
rs1597834760
|
|
|
NM_001042492.3(NF1):c.5699del (p.Ile1900fs)
|
rs1060500353
|
|
|
NM_001042492.3(NF1):c.569T>A (p.Leu190Ter)
|
|
|
|
NM_001042492.3(NF1):c.569T>G (p.Leu190Ter)
|
rs1555607112
|
|
|
NM_001042492.3(NF1):c.569del (p.Lys189_Leu190insTer)
|
rs1555607110
|
|
|
NM_001042492.3(NF1):c.5706dup (p.Asn1903fs)
|
|
|
|
NM_001042492.3(NF1):c.5708del (p.Asn1903fs)
|
|
|
|
NM_001042492.3(NF1):c.5709del (p.Asn1903fs)
|
rs2069451431
|
|
|
NM_001042492.3(NF1):c.5711A>C (p.Asn1904Thr)
|
rs864622647
|
|
|
NM_001042492.3(NF1):c.5716del (p.Leu1906fs)
|
rs2151544706
|
|
|
NM_001042492.3(NF1):c.5721_5722insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNNNNNNCAGGATAGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAACAACACCCTCTTT (p.Ile1908delinsPhePhePhePhePhePhePhePhePhePheXaaXaaXaaXaaXaaXaaGlyTer)
|
rs2151544665
|
|
|
NM_001042492.3(NF1):c.5721_5724del (p.Phe1907fs)
|
|
|
|
NM_001042492.3(NF1):c.5721_5730del (p.Phe1907fs)
|
rs2151544720
|
|
|
NM_001042492.3(NF1):c.5721del (p.Phe1907fs)
|
rs2151544716
|
|
|
NM_001042492.3(NF1):c.5723_5742del (p.Ile1908fs)
|
rs1567613682
|
|
|
NM_001042492.3(NF1):c.5724del (p.Ile1908fs)
|
rs2151544737
|
|
|
NM_001042492.3(NF1):c.5729_5730del (p.Ser1910fs)
|
rs1597834820
|
|
|
NM_001042492.3(NF1):c.5730_5734dup (p.Ser1912fs)
|
rs2151544765
|
|
|
NM_001042492.3(NF1):c.5730del (p.Ile1911fs)
|
|
|
|
NM_001042492.3(NF1):c.5730dup (p.Ile1911fs)
|
rs876660212
|
|
|
NM_001042492.3(NF1):c.5731_5734dup (p.Ser1912delinsAsnTer)
|
rs1555533871
|
|
|
NM_001042492.3(NF1):c.5733dup (p.Ser1912Ter)
|
|
|
|
NM_001042492.3(NF1):c.5735dup (p.Ser1912fs)
|
|
|
|
NM_001042492.3(NF1):c.5736_5737delinsAT (p.Ser1912_Lys1913delinsArgTer)
|
rs2151544798
|
|
|
NM_001042492.3(NF1):c.5736_5739del (p.Ser1912fs)
|
rs2151544789
|
|
|
NM_001042492.3(NF1):c.5737A>T (p.Lys1913Ter)
|
rs1597834842
|
|
|
NM_001042492.3(NF1):c.5742_5743del (p.Leu1915fs)
|
|
|
|
NM_001042492.3(NF1):c.5744T>C (p.Leu1915Pro)
|
rs1555533875
|
|
|
NM_001042492.3(NF1):c.5744del (p.Leu1915fs)
|
|
|
|
NM_001042492.3(NF1):c.5746dup (p.Ala1916fs)
|
|
|
|
NM_001042492.3(NF1):c.5755G>T (p.Glu1919Ter)
|
rs1227869359
|
|
|
NM_001042492.3(NF1):c.5764_5768del (p.Leu1922fs)
|
|
|
|
NM_001042492.3(NF1):c.5765_5766del (p.Leu1922fs)
|
rs1555533880
|
|
|
NM_001042492.3(NF1):c.5767dup (p.Thr1923fs)
|
rs2069453458
|
|
|
NM_001042492.3(NF1):c.5768C>A (p.Thr1923Lys)
|
rs786203824
|
|
|
NM_001042492.3(NF1):c.5768_5769insA (p.Leu1924fs)
|
|
|
|
NM_001042492.3(NF1):c.5771T>A (p.Leu1924Ter)
|
rs1198491194
|
|
|
NM_001042492.3(NF1):c.5771T>G (p.Leu1924Ter)
|
|
|
|
NM_001042492.3(NF1):c.5773G>T (p.Glu1925Ter)
|
rs137854565
|
|
|
NM_001042492.3(NF1):c.5773del (p.Glu1925fs)
|
rs2151544918
|
|
|
NM_001042492.3(NF1):c.5780del (p.Leu1927fs)
|
rs1135402880
|
|
|
NM_001042492.3(NF1):c.5780dup (p.Leu1927fs)
|
rs1135402880
|
|
|
NM_001042492.3(NF1):c.5782G>T (p.Glu1928Ter)
|
rs786203896
|
|
|
NM_001042492.3(NF1):c.5784_5799dup (p.Phe1934fs)
|
|
|
|
NM_001042492.3(NF1):c.5785G>T (p.Glu1929Ter)
|
rs2069454068
|
|
|
NM_001042492.3(NF1):c.5786del (p.Glu1929fs)
|
rs1555533883
|
|
|
NM_001042492.3(NF1):c.5788T>C (p.Cys1930Arg)
|
rs2069454402
|
|
|
NM_001042492.3(NF1):c.5789_5790del (p.Cys1930fs)
|
rs2069454362
|
|
|
NM_001042492.3(NF1):c.579_580insAGTTACAGTATATCAATGTGGATTGTGCAAAATTAAAACGACTC (p.Leu194delinsSerTyrSerIleSerMetTrpIleValGlnAsnTer)
|
|
|
|
NM_001042492.3(NF1):c.5802del (p.Phe1934fs)
|
rs1597834952
|
|
|
NM_001042492.3(NF1):c.5806_5812+1del
|
rs2069454695
|
|
|
NM_001042492.3(NF1):c.5806_5812del (p.Lys1936fs)
|
rs1597834959
|
|
|
NM_001042492.3(NF1):c.5808dup (p.Ser1937fs)
|
|
|
|
NM_001042492.3(NF1):c.5809del (p.Ser1937fs)
|
|
|
|
NM_001042492.3(NF1):c.5810del (p.Ser1937fs)
|
|
|
|
NM_001042492.3(NF1):c.5812+1G>A
|
rs876658854
|
|
|
NM_001042492.3(NF1):c.5812+1G>C
|
|
|
|
NM_001042492.3(NF1):c.5812+2T>C
|
rs1555533887
|
|
|
NM_001042492.3(NF1):c.5812+2T>G
|
rs1555533887
|
|
|
NM_001042492.3(NF1):c.5812+4A>T
|
rs1597834988
|
|
|
NM_001042492.3(NF1):c.5812+4dup
|
rs2151545035
|
|
|
NM_001042492.3(NF1):c.5812+5G>A
|
rs1555533889
|
|
|
NM_001042492.3(NF1):c.5812+750_6006+244del
|
|
|
|
NM_001042492.3(NF1):c.5812dup (p.Ser1938fs)
|
|
|
|
NM_001042492.3(NF1):c.5813-1086_6006+244del
|
|
|
|
NM_001042492.3(NF1):c.5813-12_5813-9del
|
rs1597839926
|
|
|
NM_001042492.3(NF1):c.5813-1748_6247delinsCTA
|
|
|
|
NM_001042492.3(NF1):c.5813-184_5813-178dup
|
|
|
|
NM_001042492.3(NF1):c.5813-1G>A
|
rs1057518974
|
|
|
NM_001042492.3(NF1):c.5813-374_6007-176del
|
|
|
|
NM_001042492.3(NF1):c.5813-460_6006+244del
|
rs1555534307
|
|
|
NM_001042492.3(NF1):c.5818G>T (p.Glu1940Ter)
|
rs1376900184
|
|
|
NM_001042492.3(NF1):c.5819_5834del (p.Glu1940fs)
|
rs2069601265
|
|
|
NM_001042492.3(NF1):c.581T>C (p.Leu194Pro)
|
rs199474753
|
|
|
NM_001042492.3(NF1):c.581T>G (p.Leu194Arg)
|
rs199474753
|
|
|
NM_001042492.3(NF1):c.5821_5825del (p.Leu1941fs)
|
rs2151550241
|
|
|
NM_001042492.3(NF1):c.5821_5825dup (p.Lys1942delinsAsnTer)
|
rs2151550241
|
|
|
NM_001042492.3(NF1):c.5822T>A (p.Leu1941Ter)
|
rs1555534375
|
|
|
NM_001042492.3(NF1):c.5828_5829del (p.His1943fs)
|
rs2151550270
|
|
|
NM_001042492.3(NF1):c.5829_5830insTG (p.Leu1944fs)
|
rs1597840008
|
|
|
NM_001042492.3(NF1):c.5830del (p.Leu1944fs)
|
rs1555534378
|
|
|
NM_001042492.3(NF1):c.5833del (p.Cys1945fs)
|
rs1555534379
|
|
|
NM_001042492.3(NF1):c.5834del (p.Cys1945fs)
|
|
|
|
NM_001042492.3(NF1):c.5835T>A (p.Cys1945Ter)
|
rs1555534380
|
|
|
NM_001042492.3(NF1):c.5835_5838del (p.Cys1945fs)
|
|
|
|
NM_001042492.3(NF1):c.5837del (p.Leu1946fs)
|
rs2069601882
|
|
|
NM_001042492.3(NF1):c.5837dup (p.Leu1946fs)
|
|
|
|
NM_001042492.3(NF1):c.5839G>T (p.Glu1947Ter)
|
rs587782088
|
|
|
NM_001042492.3(NF1):c.5842T>G (p.Tyr1948Asp)
|
rs1057520575
|
|
|
NM_001042492.3(NF1):c.5843dup (p.Tyr1948Ter)
|
rs1135402881
|
|
|
NM_001042492.3(NF1):c.5844C>A (p.Tyr1948Ter)
|
|
|
|
NM_001042492.3(NF1):c.5846del (p.Met1949fs)
|
rs2151550327
|
|
|
NM_001042492.3(NF1):c.5848_6006+269delinsTTTGTTTGGAATACATATGTATATAATTATATAGGATTATATGTAGGATTATATGTAGGATTATATTTATAATATAAATATATATT
|
|
|
|
NM_001042492.3(NF1):c.5853_5855delinsC (p.Trp1952fs)
|
|
|
|
NM_001042492.3(NF1):c.5854T>A (p.Trp1952Arg)
|
rs199474791
|
|
|
NM_001042492.3(NF1):c.5854T>C (p.Trp1952Arg)
|
rs199474791
|
|
|
NM_001042492.3(NF1):c.5854dup (p.Trp1952fs)
|
|
|
|
NM_001042492.3(NF1):c.5855G>A (p.Trp1952Ter)
|
rs1567615766
|
|
|
NM_001042492.3(NF1):c.5856G>A (p.Trp1952Ter)
|
rs1555534393
|
|
|
NM_001042492.3(NF1):c.5856del (p.Trp1952fs)
|
|
|
|
NM_001042492.3(NF1):c.5858T>C (p.Leu1953Pro)
|
rs199474792
|
|
|
NM_001042492.3(NF1):c.586+1G>A
|
rs1555607126
|
|
|
NM_001042492.3(NF1):c.586+1G>T
|
rs1555607126
|
|
|
NM_001042492.3(NF1):c.586+2T>A
|
|
|
|
NM_001042492.3(NF1):c.586+2T>C
|
rs1135402791
|
|
|
NM_001042492.3(NF1):c.586+2T>G
|
|
|
|
NM_001042492.3(NF1):c.586+5G>A
|
rs1060500284
|
|
|
NM_001042492.3(NF1):c.586+5G>C
|
rs1060500284
|
|
|
NM_001042492.3(NF1):c.5861C>A (p.Ser1954Ter)
|
|
|
|
NM_001042492.3(NF1):c.5861C>G (p.Ser1954Ter)
|
rs2069602711
|
|
|
NM_001042492.3(NF1):c.5864del (p.Asn1955fs)
|
|
|
|
NM_001042492.3(NF1):c.5866del (p.Asn1955_Leu1956insTer)
|
|
|
|
NM_001042492.3(NF1):c.586G>T (p.Glu196Ter)
|
rs876659079
|
|
|
NM_001042492.3(NF1):c.587-14T>A
|
rs940581106
|
|
|
NM_001042492.3(NF1):c.587-15_587-14del
|
rs1597657969
|
|
|
NM_001042492.3(NF1):c.587-1G>C
|
|
|
|
NM_001042492.3(NF1):c.587-2A>G
|
rs1057518360
|
|
|
NM_001042492.3(NF1):c.587-2A>T
|
rs1057518360
|
|
|
NM_001042492.3(NF1):c.587-3C>G
|
rs375188075
|
|
|
NM_001042492.3(NF1):c.5871del (p.Arg1958fs)
|
|
|
|
NM_001042492.3(NF1):c.5872del (p.Arg1958fs)
|
rs2069603045
|
|
|
NM_001042492.3(NF1):c.5880C>A (p.Cys1960Ter)
|
rs1462287670
|
|
|
NM_001042492.3(NF1):c.5886dup (p.Asn1963Ter)
|
rs2069603579
|
|
|
NM_001042492.3(NF1):c.5891_5892insAT (p.Asp1964fs)
|
|
|
|
NM_001042492.3(NF1):c.5894_5895del (p.Asp1965fs)
|
|
|
|
NM_001042492.3(NF1):c.5901del (p.Lys1967fs)
|
rs1597840123
|
|
|
NM_001042492.3(NF1):c.5902C>T (p.Arg1968Ter)
|
rs137854552
|
|
|
NM_001042492.3(NF1):c.5905C>T (p.Gln1969Ter)
|
|
|
|
NM_001042492.3(NF1):c.5907_5908del (p.Arg1970fs)
|
rs863224835
|
|
|
NM_001042492.3(NF1):c.5908A>T (p.Arg1970Ter)
|
rs267606595
|
|
|
NM_001042492.3(NF1):c.5908_5909insTA (p.Arg1970fs)
|
rs1060500354
|
|
|
NM_001042492.3(NF1):c.5908dup (p.Arg1970fs)
|
|
|
|
NM_001042492.3(NF1):c.590_591del (p.Thr197fs)
|
rs2143773941
|
|
|
NM_001042492.3(NF1):c.590_600del (p.Thr197fs)
|
|
|
|
NM_001042492.3(NF1):c.5910_5911del (p.Arg1970fs)
|
rs2151550502
|
|
|
NM_001042492.3(NF1):c.5911_5914dup (p.Thr1972fs)
|
rs2151550507
|
|
|
NM_001042492.3(NF1):c.5912_5913dup (p.Thr1972fs)
|
rs2069605987
|
|
|
NM_001042492.3(NF1):c.5914dup (p.Thr1972fs)
|
rs2069606043
|
|
|
NM_001042492.3(NF1):c.5915del (p.Thr1972fs)
|
|
|
|
NM_001042492.3(NF1):c.5919del (p.Ile1974fs)
|
|
|
|
NM_001042492.3(NF1):c.591del (p.Ala198fs)
|
|
|
|
NM_001042492.3(NF1):c.5925del (p.Asp1976fs)
|
rs1060500349
|
|
|
NM_001042492.3(NF1):c.5929_5945del (p.Lys1977fs)
|
|
|
|
NM_001042492.3(NF1):c.592del (p.Ala198fs)
|
rs1567825858
|
|
|
NM_001042492.3(NF1):c.5933T>C (p.Leu1978Pro)
|
rs2069606635
|
|
|
NM_001042492.3(NF1):c.5933_5934delinsCT (p.Leu1978Pro)
|
|
|
|
NM_001042492.3(NF1):c.5938del (p.Thr1980fs)
|
rs1567615852
|
|
|
NM_001042492.3(NF1):c.5943_5965dup (p.Tyr1989Ter)
|
|
|
|
NM_001042492.3(NF1):c.5943del (p.Met1981fs)
|
rs1567615872
|
|
|
NM_001042492.3(NF1):c.594del (p.Phe199fs)
|
rs1555608647
|
|
|
NM_001042492.3(NF1):c.5958dup (p.Gln1987fs)
|
rs2069607664
|
|
|
NM_001042492.3(NF1):c.5959C>T (p.Gln1987Ter)
|
rs876659070
|
|
|
NM_001042492.3(NF1):c.5959_5960del (p.Gln1987fs)
|
|
|
|
NM_001042492.3(NF1):c.5961_5962del (p.Gln1987fs)
|
|
|
|
NM_001042492.3(NF1):c.5967C>G (p.Tyr1989Ter)
|
rs1567615902
|
|
|
NM_001042492.3(NF1):c.5969del (p.Pro1990fs)
|
|
|
|
NM_001042492.3(NF1):c.5969dup (p.Ser1991fs)
|
|
|
|
NM_001042492.3(NF1):c.5971_5978del (p.Ile1992fs)
|
rs1597840273
|
|
|
NM_001042492.3(NF1):c.5971dup (p.Ser1991fs)
|
rs2151550685
|
|
|
NM_001042492.3(NF1):c.5977C>T (p.Gln1993Ter)
|
|
|
|
NM_001042492.3(NF1):c.5977_5987del (p.Gln1993fs)
|
rs2151550700
|
|
|
NM_001042492.3(NF1):c.5978_5979del (p.Gln1993fs)
|
rs2151550708
|
|
|
NM_001042492.3(NF1):c.5980_5983del (p.Ala1994fs)
|
rs1597840291
|
|
|
NM_001042492.3(NF1):c.5985_5986del (p.Lys1995fs)
|
|
|
|
NM_001042492.3(NF1):c.5986del (p.Ile1996fs)
|
|
|
|
NM_001042492.3(NF1):c.5988_5989del (p.Ile1996fs)
|
|
|
|
NM_001042492.3(NF1):c.5988dup (p.Trp1997fs)
|
|
|
|
NM_001042492.3(NF1):c.5989dup (p.Trp1997fs)
|
|
|
|
NM_001042492.3(NF1):c.598A>T (p.Lys200Ter)
|
rs2066130986
|
|
|
NM_001042492.3(NF1):c.5990G>A (p.Trp1997Ter)
|
|
|
|
NM_001042492.3(NF1):c.5991G>A (p.Trp1997Ter)
|
rs876660696
|
|
|
NM_001042492.3(NF1):c.60+18227_60+18228insGGGCATGAACAACAGAAACTACCTGCTGCCACCTTGGCTTTA
|
|
|
|
NM_001042492.3(NF1):c.6001G>A (p.Gly2001Arg)
|
rs199474751
|
|
|
NM_001042492.3(NF1):c.6004C>T (p.Gln2002Ter)
|
rs1567615941
|
|
|
NM_001042492.3(NF1):c.6004del (p.Gln2002fs)
|
rs2151550785
|
|
|
NM_001042492.3(NF1):c.6006+1G>A
|
rs1555534433
|
|
|
NM_001042492.3(NF1):c.6006+1G>C
|
|
|
|
NM_001042492.3(NF1):c.6006+1G>T
|
rs1555534433
|
|
|
NM_001042492.3(NF1):c.6006+2T>G
|
rs1258498548
|
|
|
NM_001042492.3(NF1):c.6006_6006+1delinsAA
|
rs1064796077
|
|
|
NM_001042492.3(NF1):c.6007-1G>C
|
rs1555534596
|
|
|
NM_001042492.3(NF1):c.6007-1G>T
|
rs1555534596
|
|
|
NM_001042492.3(NF1):c.6007-2A>G
|
rs1555534595
|
|
|
NM_001042492.3(NF1):c.6007-5A>G
|
rs267606604
|
|
|
NM_001042492.3(NF1):c.6009del (p.Thr2004fs)
|
rs1179712488
|
|
|
NM_001042492.3(NF1):c.6013del (p.Asp2005fs)
|
rs1597842221
|
|
|
NM_001042492.3(NF1):c.6022G>C (p.Asp2008His)
|
rs786201924
|
|
|
NM_001042492.3(NF1):c.6022G>T (p.Asp2008Tyr)
|
rs786201924
|
|
|
NM_001042492.3(NF1):c.6023A>G (p.Asp2008Gly)
|
rs2069668717
|
|
|
NM_001042492.3(NF1):c.603del (p.Phe201fs)
|
rs1135402792
|
|
|
NM_001042492.3(NF1):c.6041del (p.Phe2014fs)
|
rs2151553250
|
|
|
NM_001042492.3(NF1):c.6049del (p.Thr2017fs)
|
|
|
|
NM_001042492.3(NF1):c.6051del (p.Ser2018fs)
|
rs2151553285
|
|
|
NM_001042492.3(NF1):c.6054T>G (p.Ser2018Arg)
|
rs1555534600
|
|
|
NM_001042492.3(NF1):c.6060_6147+57del
|
rs2151553312
|
|
|
NM_001042492.3(NF1):c.6062del (p.Gly2021fs)
|
rs1057518475
|
|
|
NM_001042492.3(NF1):c.606del (p.Ala203fs)
|
rs2143774090
|
|
|
NM_001042492.3(NF1):c.607del (p.Ala203fs)
|
rs1567825887
|
|
|
NM_001042492.3(NF1):c.6081_6083delinsGG (p.Ala2028fs)
|
rs2069670110
|
|
|
NM_001042492.3(NF1):c.6088_6092delinsCAC (p.Val2030fs)
|
|
|
|
NM_001042492.3(NF1):c.6088dup (p.Val2030fs)
|
rs1555534609
|
|
|
NM_001042492.3(NF1):c.6090dup (p.Met2031fs)
|
rs1555534611
|
|
|
NM_001042492.3(NF1):c.6096del (p.Asp2033fs)
|
rs2069670563
|
|
|
NM_001042492.3(NF1):c.6098del (p.Asp2033fs)
|
|
|
|
NM_001042492.3(NF1):c.61-11_61-2del
|
rs2065653850
|
|
|
NM_001042492.3(NF1):c.61-1G>A
|
rs1263745475
|
|
|
NM_001042492.3(NF1):c.61-2A>C
|
rs1131691100
|
|
|
NM_001042492.3(NF1):c.61-2A>G
|
rs1131691100
|
|
|
NM_001042492.3(NF1):c.61-2A>T
|
rs1131691100
|
|
|
NM_001042492.3(NF1):c.61-6522_204+1022dup
|
|
|
|
NM_001042492.3(NF1):c.61-7486G>T
|
rs1597617010
|
|
|
NM_001042492.3(NF1):c.6100dup (p.Thr2034fs)
|
rs2151553456
|
|
|
NM_001042492.3(NF1):c.6105dup (p.Val2036fs)
|
rs2069670885
|
|
|
NM_001042492.3(NF1):c.610del (p.Ala203_Leu204insTer)
|
|
|
|
NM_001042492.3(NF1):c.610dup (p.Leu204fs)
|
rs1135402793
|
|
|
NM_001042492.3(NF1):c.6119del (p.Ser2040fs)
|
|
|
|
NM_001042492.3(NF1):c.611del (p.Leu204fs)
|
rs2143774183
|
|
|
NM_001042492.3(NF1):c.6121G>T (p.Gly2041Ter)
|
|
|
|
NM_001042492.3(NF1):c.6132del (p.Lys2044fs)
|
|
|
|
NM_001042492.3(NF1):c.6136dup (p.Val2046fs)
|
rs1555534618
|
|
|
NM_001042492.3(NF1):c.6139del (p.Ser2047fs)
|
rs2069671730
|
|
|
NM_001042492.3(NF1):c.6147+1G>A
|
rs1060500296
|
|
|
NM_001042492.3(NF1):c.6147+1G>T
|
rs1060500296
|
|
|
NM_001042492.3(NF1):c.6147+2T>C
|
rs1555534621
|
|
|
NM_001042492.3(NF1):c.6147+2T>G
|
rs1555534621
|
|
|
NM_001042492.3(NF1):c.6147G>A (p.Lys2049=)
|
|
|
|
NM_001042492.3(NF1):c.6147_6147+4del
|
rs2069671900
|
|
|
NM_001042492.3(NF1):c.6148-16T>G
|
rs769223408
|
|
|
NM_001042492.3(NF1):c.6148-1G>A
|
rs1555534661
|
|
|
NM_001042492.3(NF1):c.6148-1G>C
|
rs1555534661
|
|
|
NM_001042492.3(NF1):c.6148-2A>G
|
rs2069681259
|
|
|
NM_001042492.3(NF1):c.6148-3C>A
|
rs1597842697
|
|
|
NM_001042492.3(NF1):c.6148-4_6148-2del
|
rs2069681044
|
|
|
NM_001042492.3(NF1):c.6149_6150delinsGGC (p.Val2050fs)
|
rs1597842710
|
|
|
NM_001042492.3(NF1):c.614del (p.Lys205fs)
|
rs2143774209
|
|
|
NM_001042492.3(NF1):c.6165C>A (p.Cys2055Ter)
|
rs2069681958
|
|
|
NM_001042492.3(NF1):c.6166A>T (p.Lys2056Ter)
|
rs1555534667
|
|
|
NM_001042492.3(NF1):c.616A>T (p.Lys206Ter)
|
|
|
|
NM_001042492.3(NF1):c.6174del (p.Ile2058fs)
|
rs1567616894
|
|
|
NM_001042492.3(NF1):c.6178_6179del (p.Lys2060fs)
|
|
|
|
NM_001042492.3(NF1):c.6179_6183dup (p.Cys2062fs)
|
|
|
|
NM_001042492.3(NF1):c.6182_6183insGGCCGCGCCGGCGAGCGCCGCCCGGGAGGCAGCGGCTGGAGGAGCGGACGGGCCCCGCGGGGCCCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAATAATTGACAAGAC (p.Thr2061_Cys2062insAlaAlaProAlaSerAlaAlaArgGluAlaAlaAlaGlyGlyAlaAspGlyProArgGlyAlaXaaXaaXaaXaaLysLysLysLysLysLysLysAsnAsnTer)
|
|
|
|
NM_001042492.3(NF1):c.6186C>A (p.Cys2062Ter)
|
rs1555534669
|
|
|
NM_001042492.3(NF1):c.6186_6187insG (p.Leu2063fs)
|
rs2069682584
|
|
|
NM_001042492.3(NF1):c.6188T>A (p.Leu2063Ter)
|
|
|
|
NM_001042492.3(NF1):c.6197del (p.Thr2066fs)
|
rs1135402883
|
|
|
NM_001042492.3(NF1):c.6204_6211del (p.Leu2069fs)
|
rs2151554438
|
|
|
NM_001042492.3(NF1):c.6206T>A (p.Leu2069Ter)
|
|
|
|
NM_001042492.3(NF1):c.6206T>G (p.Leu2069Ter)
|
rs2151554452
|
|
|
NM_001042492.3(NF1):c.6211C>T (p.Gln2071Ter)
|
rs1135402884
|
|
|
NM_001042492.3(NF1):c.6213del (p.Gln2071fs)
|
|
|
|
NM_001042492.3(NF1):c.6220dup (p.Met2074fs)
|
rs1555534673
|
|
|
NM_001042492.3(NF1):c.6221del (p.Met2074fs)
|
rs2069683635
|
|
|
NM_001042492.3(NF1):c.6224G>A (p.Trp2075Ter)
|
rs2151554507
|
|
|
NM_001042492.3(NF1):c.6225G>A (p.Trp2075Ter)
|
rs1555534677
|
|
|
NM_001042492.3(NF1):c.6236del (p.Ala2079fs)
|
|
|
|
NM_001042492.3(NF1):c.6242T>C (p.Leu2081Ser)
|
rs2069684176
|
|
|
NM_001042492.3(NF1):c.6246del (p.Arg2083fs)
|
rs1597842843
|
|
|
NM_001042492.3(NF1):c.6249del (p.Tyr2084fs)
|
rs2151554607
|
|
|
NM_001042492.3(NF1):c.6251_6257del (p.Arg2083_Tyr2084insTer)
|
rs2151554602
|
|
|
NM_001042492.3(NF1):c.6252C>G (p.Tyr2084Ter)
|
|
|
|
NM_001042492.3(NF1):c.6253del (p.Met2085fs)
|
|
|
|
NM_001042492.3(NF1):c.625C>T (p.Gln209Ter)
|
rs786203448
|
|
|
NM_001042492.3(NF1):c.6260del (p.Met2087fs)
|
|
|
|
NM_001042492.3(NF1):c.6261dup (p.Leu2088fs)
|
|
|
|
NM_001042492.3(NF1):c.6263T>C (p.Leu2088Pro)
|
rs137854561
|
|
|
NM_001042492.3(NF1):c.6270dup (p.Asn2091fs)
|
|
|
|
NM_001042492.3(NF1):c.6273del (p.Asn2091fs)
|
|
|
|
NM_001042492.3(NF1):c.6275del (p.Asn2092fs)
|
rs1555534697
|
|
|
NM_001042492.3(NF1):c.6276_6279dup (p.Leu2094fs)
|
|
|
|
NM_001042492.3(NF1):c.6278_6288del (p.Ser2093fs)
|
|
|
|
NM_001042492.3(NF1):c.627_628insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAAGGTTGCGCAG (p.Leu210delinsAlaGlyArgGlyGlySerArgLeuTer)
|
rs2143774220
|
|
|
NM_001042492.3(NF1):c.629T>A (p.Leu210Ter)
|
|
|
|
NM_001042492.3(NF1):c.629T>G (p.Leu210Ter)
|
rs876658570
|
|
|
NM_001042492.3(NF1):c.6303_6315dup (p.Val2106fs)
|
|
|
|
NM_001042492.3(NF1):c.6303del (p.Tyr2102fs)
|
rs1597842936
|
|
|
NM_001042492.3(NF1):c.6306C>A (p.Tyr2102Ter)
|
|
|
|
NM_001042492.3(NF1):c.6306_6307insT (p.Leu2103fs)
|
rs876659471
|
|
|
NM_001042492.3(NF1):c.6307del (p.Leu2103fs)
|
rs1131691125
|
|
|
NM_001042492.3(NF1):c.6307dup (p.Leu2103fs)
|
rs1131691125
|
|
|
NM_001042492.3(NF1):c.6308T>C (p.Leu2103Pro)
|
rs2069687450
|
|
|
NM_001042492.3(NF1):c.630dup (p.Ala211fs)
|
rs2066132105
|
|
|
NM_001042492.3(NF1):c.6312_6313del (p.Phe2104fs)
|
|
|
|
NM_001042492.3(NF1):c.6316_6359dup (p.Ala2120_Ser2121insLeuLeuLeuSerTer)
|
rs1567617045
|
|
|
NM_001042492.3(NF1):c.6319_6320del (p.Val2107fs)
|
|
|
|
NM_001042492.3(NF1):c.631_632dup (p.Val212fs)
|
|
|
|
NM_001042492.3(NF1):c.6322dup (p.Thr2108fs)
|
rs2069687965
|
|
|
NM_001042492.3(NF1):c.6325_6326delinsA (p.Phe2109fs)
|
|
|
|
NM_001042492.3(NF1):c.6326del (p.Phe2109fs)
|
rs1135402885
|
|
|
NM_001042492.3(NF1):c.6327dup (p.Val2111fs)
|
|
|
|
NM_001042492.3(NF1):c.6329T>A (p.Leu2110Ter)
|
|
|
|
NM_001042492.3(NF1):c.6333_6334insACAACCTGTG (p.Ala2112fs)
|
|
|
|
NM_001042492.3(NF1):c.6334del (p.Ala2112fs)
|
rs1555534735
|
|
|
NM_001042492.3(NF1):c.633del (p.Val212fs)
|
|
|
|
NM_001042492.3(NF1):c.633dup (p.Val212fs)
|
|
|
|
NM_001042492.3(NF1):c.6341_6342del (p.Gly2114fs)
|
rs1597843052
|
|
|
NM_001042492.3(NF1):c.6343_6344dup (p.Leu2116fs)
|
|
|
|
NM_001042492.3(NF1):c.6344_6345insAGAG (p.Leu2116fs)
|
|
|
|
NM_001042492.3(NF1):c.6352del (p.Arg2119fs)
|
|
|
|
NM_001042492.3(NF1):c.6352dup (p.Leu2118fs)
|
rs2151554927
|
|
|
NM_001042492.3(NF1):c.6354del (p.Arg2119fs)
|
|
|
|
NM_001042492.3(NF1):c.6355A>T (p.Arg2119Ter)
|
rs2151554939
|
|
|
NM_001042492.3(NF1):c.6355dup (p.Arg2119fs)
|
|
|
|
NM_001042492.3(NF1):c.6356_6357insTA (p.Arg2119fs)
|
|
|
|
NM_001042492.3(NF1):c.6356_6360del (p.Arg2119fs)
|
rs2069689101
|
|
|
NM_001042492.3(NF1):c.6358_6359insTTTAA (p.Ala2120delinsValTer)
|
rs1131691133
|
|
|
NM_001042492.3(NF1):c.6360_6363dup (p.Thr2122fs)
|
rs1597843096
|
|
|
NM_001042492.3(NF1):c.6361del (p.Ser2121fs)
|
rs2069689307
|
|
|
NM_001042492.3(NF1):c.6365_6366insGG (p.His2123fs)
|
rs1555534751
|
|
|
NM_001042492.3(NF1):c.6371del (p.Gly2124fs)
|
|
|
|
NM_001042492.3(NF1):c.6373_6376del (p.Leu2125fs)
|
rs1555534755
|
|
|
NM_001042492.3(NF1):c.6374_6377delinsAC (p.Leu2125fs)
|
|
|
|
NM_001042492.3(NF1):c.6379_6385del (p.Ile2127fs)
|
|
|
|
NM_001042492.3(NF1):c.6383dup (p.Asn2128fs)
|
|
|
|
NM_001042492.3(NF1):c.6388del (p.Ile2130fs)
|
rs1597843169
|
|
|
NM_001042492.3(NF1):c.6392dup (p.His2131fs)
|
|
|
|
NM_001042492.3(NF1):c.6397_6398del (p.Leu2133fs)
|
rs1567617129
|
|
|
NM_001042492.3(NF1):c.6397del (p.Leu2133fs)
|
|
|
|
NM_001042492.3(NF1):c.6401_6402del (p.Cys2134fs)
|
rs1597843186
|
|
|
NM_001042492.3(NF1):c.6402T>A (p.Cys2134Ter)
|
rs1555534766
|
|
|
NM_001042492.3(NF1):c.6402del (p.Leu2133_Cys2134insTer)
|
|
|
|
NM_001042492.3(NF1):c.6407_6408del (p.Cys2136fs)
|
rs2069691007
|
|
|
NM_001042492.3(NF1):c.6407_6422del (p.Cys2136fs)
|
rs2151555120
|
|
|
NM_001042492.3(NF1):c.6410C>A (p.Ser2137Ter)
|
rs2069691055
|
|
|
NM_001042492.3(NF1):c.6410C>G (p.Ser2137Ter)
|
rs2069691055
|
|
|
NM_001042492.3(NF1):c.6412C>T (p.Gln2138Ter)
|
rs2069691114
|
|
|
NM_001042492.3(NF1):c.641del (p.Asn214fs)
|
|
|
|
NM_001042492.3(NF1):c.6425del (p.Ser2142fs)
|
rs2069691466
|
|
|
NM_001042492.3(NF1):c.6427+1G>A
|
rs2151555200
|
|
|
NM_001042492.3(NF1):c.6427+1G>C
|
|
|
|
NM_001042492.3(NF1):c.6427+1G>T
|
|
|
|
NM_001042492.3(NF1):c.6427+2T>C
|
rs1567617158
|
|
|
NM_001042492.3(NF1):c.6427+2T>G
|
rs1567617158
|
|
|
NM_001042492.3(NF1):c.6427+4A>G
|
|
|
|
NM_001042492.3(NF1):c.6427G>A (p.Glu2143Lys)
|
rs1555534775
|
|
|
NM_001042492.3(NF1):c.6428-1G>A
|
rs747100254
|
|
|
NM_001042492.3(NF1):c.6428-1G>T
|
rs747100254
|
|
|
NM_001042492.3(NF1):c.6428-2A>C
|
rs1060500312
|
|
|
NM_001042492.3(NF1):c.6428-2A>G
|
rs1060500312
|
|
|
NM_001042492.3(NF1):c.6428-2A>T
|
|
|
|
NM_001042492.3(NF1):c.6428-3C>A
|
rs374014162
|
|
|
NM_001042492.3(NF1):c.6428-3C>G
|
rs374014162
|
|
|
NM_001042492.3(NF1):c.6428-3del
|
rs1597843640
|
|
|
NM_001042492.3(NF1):c.6430G>T (p.Glu2144Ter)
|
rs1567617371
|
|
|
NM_001042492.3(NF1):c.6435del (p.Lys2146fs)
|
|
|
|
NM_001042492.3(NF1):c.6436A>T (p.Lys2146Ter)
|
rs1597843675
|
|
|
NM_001042492.3(NF1):c.6439C>T (p.Gln2147Ter)
|
rs1555534859
|
|
|
NM_001042492.3(NF1):c.6439_6442del (p.Gln2147fs)
|
|
|
|
NM_001042492.3(NF1):c.643del (p.Ser215fs)
|
rs1597658192
|
|
|
NM_001042492.3(NF1):c.6446T>A (p.Leu2149Ter)
|
|
|
|
NM_001042492.3(NF1):c.6446_6447insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCAGCTAATTTTTTGTATGACCAAGCAAGTTTT (p.Leu2149delinsPhePhePhePhePhePhePheXaaXaaXaaXaaAlaIleLeuLeuProGlnProProLysTer)
|
|
|
|
NM_001042492.3(NF1):c.6446del (p.Val2148_Leu2149insTer)
|
|
|
|
NM_001042492.3(NF1):c.6452_6456delinsA (p.Leu2151fs)
|
rs1135402887
|
|
|
NM_001042492.3(NF1):c.6455_6461del (p.Ser2152fs)
|
|
|
|
NM_001042492.3(NF1):c.6462dup (p.Glu2155fs)
|
rs1135402888
|
|
|
NM_001042492.3(NF1):c.6463G>T (p.Glu2155Ter)
|
|
|
|
NM_001042492.3(NF1):c.6464_6465del (p.Glu2155fs)
|
|
|
|
NM_001042492.3(NF1):c.6470C>A (p.Ser2157Ter)
|
|
|
|
NM_001042492.3(NF1):c.6470C>G (p.Ser2157Ter)
|
|
|
|
NM_001042492.3(NF1):c.6473T>A (p.Leu2158Ter)
|
rs2151556088
|
|
|
NM_001042492.3(NF1):c.6477del (p.Lys2160fs)
|
rs2151556101
|
|
|
NM_001042492.3(NF1):c.647T>C (p.Leu216Pro)
|
rs199474756
|
|
|
NM_001042492.3(NF1):c.6484del (p.Tyr2162fs)
|
rs2151556124
|
|
|
NM_001042492.3(NF1):c.6486C>A (p.Tyr2162Ter)
|
rs2069704625
|
|
|
NM_001042492.3(NF1):c.6486C>G (p.Tyr2162Ter)
|
rs2069704625
|
|
|
NM_001042492.3(NF1):c.6487_6488del (p.Leu2163fs)
|
rs1060500338
|
|
|
NM_001042492.3(NF1):c.6488T>A (p.Leu2163Ter)
|
rs1353492847
|
|
|
NM_001042492.3(NF1):c.6488del (p.Leu2163fs)
|
rs2151556143
|
|
|
NM_001042492.3(NF1):c.6490C>A (p.Leu2164Met)
|
rs137854551
|
|
|
NM_001042492.3(NF1):c.6492dup (p.Phe2165fs)
|
rs2151556162
|
|
|
NM_001042492.3(NF1):c.6495del (p.Phe2165fs)
|
rs2151556165
|
|
|
NM_001042492.3(NF1):c.6499_6502delinsTG (p.Ile2167fs)
|
|
|
|
NM_001042492.3(NF1):c.649G>T (p.Glu217Ter)
|
rs878853909
|
|
|
NM_001042492.3(NF1):c.6503del (p.Ser2168fs)
|
rs1597843782
|
|
|
NM_001042492.3(NF1):c.6512del (p.Lys2171fs)
|
rs2151556220
|
|
|
NM_001042492.3(NF1):c.6513_6514delinsTGA (p.Lys2171fs)
|
|
|
|
NM_001042492.3(NF1):c.6514_6517del (p.Ser2172fs)
|
|
|
|
NM_001042492.3(NF1):c.6515C>G (p.Ser2172Ter)
|
rs2069704915
|
|
|
NM_001042492.3(NF1):c.6516del (p.Ala2173fs)
|
|
|
|
NM_001042492.3(NF1):c.6520_6538del (p.Ala2174fs)
|
rs786203806
|
|
|
NM_001042492.3(NF1):c.6524_6525insAA (p.Ile2176fs)
|
rs2069705203
|
|
|
NM_001042492.3(NF1):c.6525_6537del (p.Ile2176fs)
|
rs1131691071
|
|
|
NM_001042492.3(NF1):c.6533del (p.Phe2178fs)
|
rs2069705474
|
|
|
NM_001042492.3(NF1):c.6535del (p.Arg2179fs)
|
|
|
|
NM_001042492.3(NF1):c.6538del (p.Ser2180fs)
|
rs1597843836
|
|
|
NM_001042492.3(NF1):c.653del (p.Lys218fs)
|
rs1131691094
|
|
|
NM_001042492.3(NF1):c.653dup (p.Ala219fs)
|
rs1131691094
|
|
|
NM_001042492.3(NF1):c.654+1G>A
|
rs1060500245
|
|
|
NM_001042492.3(NF1):c.654+1G>T
|
rs1060500245
|
|
|
NM_001042492.3(NF1):c.654+2T>A
|
rs2143774762
|
|
|
NM_001042492.3(NF1):c.654+2T>C
|
rs2143774762
|
|
|
NM_001042492.3(NF1):c.654+2T>G
|
|
|
|
NM_001042492.3(NF1):c.6540del (p.Ser2181fs)
|
rs1597843853
|
|
|
NM_001042492.3(NF1):c.6545del (p.Tyr2182fs)
|
rs1135402889
|
|
|
NM_001042492.3(NF1):c.6546C>A (p.Tyr2182Ter)
|
|
|
|
NM_001042492.3(NF1):c.6546C>G (p.Tyr2182Ter)
|
rs876659768
|
|
|
NM_001042492.3(NF1):c.6546_6550del (p.Tyr2182_Asp2184delinsTer)
|
rs1135402890
|
|
|
NM_001042492.3(NF1):c.6547del (p.Arg2183fs)
|
|
|
|
NM_001042492.3(NF1):c.655-12_655-9del
|
rs1597658505
|
|
|
NM_001042492.3(NF1):c.655-1G>A
|
rs2143777263
|
|
|
NM_001042492.3(NF1):c.655-2A>C
|
rs1555608734
|
|
|
NM_001042492.3(NF1):c.655-2A>G
|
rs1555608734
|
|
|
NM_001042492.3(NF1):c.6557C>A (p.Ser2186Ter)
|
|
|
|
NM_001042492.3(NF1):c.6557C>G (p.Ser2186Ter)
|
rs1131691091
|
|
|
NM_001042492.3(NF1):c.6560_6581del (p.Ser2186_Phe2187insTer)
|
|
|
|
NM_001042492.3(NF1):c.6562_6565del (p.Ser2188fs)
|
|
|
|
NM_001042492.3(NF1):c.6564dup (p.Pro2189fs)
|
rs2151556401
|
|
|
NM_001042492.3(NF1):c.6569_6570del (p.Gly2190fs)
|
rs1131691076
|
|
|
NM_001042492.3(NF1):c.6574T>A (p.Tyr2192Asn)
|
rs267606598
|
|
|
NM_001042492.3(NF1):c.6576T>A (p.Tyr2192Ter)
|
rs758917402
|
|
|
NM_001042492.3(NF1):c.6576T>G (p.Tyr2192Ter)
|
rs758917402
|
|
|
NM_001042492.3(NF1):c.6577G>T (p.Glu2193Ter)
|
rs1135402891
|
|
|
NM_001042492.3(NF1):c.6579_6598del (p.Glu2193fs)
|
|
|
|
NM_001042492.3(NF1):c.6580A>T (p.Arg2194Ter)
|
rs2151556446
|
|
|
NM_001042492.3(NF1):c.6580del (p.Arg2194fs)
|
rs2069707503
|
|
|
NM_001042492.3(NF1):c.6581dup (p.Glu2195fs)
|
rs2151556452
|
|
|
NM_001042492.3(NF1):c.6583G>T (p.Glu2195Ter)
|
|
|
|
NM_001042492.3(NF1):c.6583_6586del (p.Glu2195fs)
|
rs1131691084
|
|
|
NM_001042492.3(NF1):c.6584dup (p.Thr2196fs)
|
|
|
|
NM_001042492.3(NF1):c.6585_6586del (p.Glu2195fs)
|
rs1131691084
|
|
|
NM_001042492.3(NF1):c.6585_6586dup (p.Thr2196fs)
|
|
|
|
NM_001042492.3(NF1):c.6587_6588delinsGAGACAAAAATCATGTTTTTGTATTAATAAAATGAAAAAGATTCGATAATGGCATGGTATTACCATCCAGTTCTAAAGTGGTTTAATTCTGTGATTTGAGTACAAAGGTATGCCAGACTTGGGAGAGATAACAGAGAAATAATACCTGTTATATTCCTGGTTTGTCTACAAGCATCCTAATTTTGTATTATACAAAGCAAAGTATA (p.Thr2196delinsArgAspLysAsnHisValPheValLeuIleLysTer)
|
|
|
|
NM_001042492.3(NF1):c.6587del (p.Thr2196fs)
|
|
|
|
NM_001042492.3(NF1):c.6590_6591del (p.Phe2197fs)
|
rs2069707755
|
|
|
NM_001042492.3(NF1):c.6591del (p.Phe2197fs)
|
rs2069707755
|
|
|
NM_001042492.3(NF1):c.6591dup (p.Ala2198fs)
|
|
|
|
NM_001042492.3(NF1):c.6592del (p.Ala2198fs)
|
rs2151556490
|
|
|
NM_001042492.3(NF1):c.6593del (p.Ala2198fs)
|
rs2151556491
|
|
|
NM_001042492.3(NF1):c.6596T>A (p.Leu2199Ter)
|
rs1597843979
|
|
|
NM_001042492.3(NF1):c.6599_6600del (p.Thr2200fs)
|
rs2151556510
|
|
|
NM_001042492.3(NF1):c.6600del (p.Ser2201fs)
|
rs1135402892
|
|
|
NM_001042492.3(NF1):c.6607G>T (p.Glu2203Ter)
|
|
|
|
NM_001042492.3(NF1):c.6609_6610del (p.Glu2203fs)
|
rs2069708160
|
|
|
NM_001042492.3(NF1):c.6613_6623del (p.Val2205fs)
|
|
|
|
NM_001042492.3(NF1):c.6616dup (p.Thr2206fs)
|
|
|
|
NM_001042492.3(NF1):c.661del (p.Trp221fs)
|
rs2143777361
|
|
|
NM_001042492.3(NF1):c.661dup (p.Trp221fs)
|
|
|
|
NM_001042492.3(NF1):c.662G>A (p.Trp221Ter)
|
rs1131691126
|
|
|
NM_001042492.3(NF1):c.662_663dup (p.Asn222fs)
|
rs1555608736
|
|
|
NM_001042492.3(NF1):c.6631G>T (p.Glu2211Ter)
|
|
|
|
NM_001042492.3(NF1):c.6636del (p.Met2213fs)
|
|
|
|
NM_001042492.3(NF1):c.663G>A (p.Trp221Ter)
|
rs1555608737
|
|
|
NM_001042492.3(NF1):c.663del (p.Phe220_Trp221insTer)
|
rs1555608736
|
|
|
NM_001042492.3(NF1):c.6642+18A>G
|
rs1555534893
|
|
|
NM_001042492.3(NF1):c.6642+1G>A
|
rs1060500345
|
|
|
NM_001042492.3(NF1):c.6642+1G>C
|
rs1060500345
|
|
|
NM_001042492.3(NF1):c.6642+1G>T
|
rs1060500345
|
|
|
NM_001042492.3(NF1):c.6642+2T>A
|
rs2069709336
|
|
|
NM_001042492.3(NF1):c.6642+2T>C
|
rs2069709336
|
|
|
NM_001042492.3(NF1):c.6642G>T (p.Glu2214Asp)
|
|
|
|
NM_001042492.3(NF1):c.6643-1G>C
|
rs2151557367
|
|
|
NM_001042492.3(NF1):c.6643-1G>T
|
|
|
|
NM_001042492.3(NF1):c.6643-1_6643delinsTT
|
rs2151557372
|
|
|
NM_001042492.3(NF1):c.6643-2A>C
|
rs1597844547
|
|
|
NM_001042492.3(NF1):c.6643-2A>G
|
rs1597844547
|
|
|
NM_001042492.3(NF1):c.6643-2A>T
|
rs1597844547
|
|
|
NM_001042492.3(NF1):c.6648C>A (p.Cys2216Ter)
|
rs1597844556
|
|
|
NM_001042492.3(NF1):c.6658_6659del (p.Ile2220fs)
|
rs2151557411
|
|
|
NM_001042492.3(NF1):c.6658del (p.Ile2220fs)
|
rs2069717157
|
|
|
NM_001042492.3(NF1):c.6667del (p.Cys2223fs)
|
rs1555534917
|
|
|
NM_001042492.3(NF1):c.6668del (p.Cys2223fs)
|
|
|
|
NM_001042492.3(NF1):c.6668delinsTT (p.Cys2223fs)
|
rs2069717621
|
|
|
NM_001042492.3(NF1):c.6669C>A (p.Cys2223Ter)
|
rs1555534918
|
|
|
NM_001042492.3(NF1):c.6675G>A (p.Trp2225Ter)
|
rs2069717916
|
|
|
NM_001042492.3(NF1):c.667T>C (p.Trp223Arg)
|
rs1555608740
|
|
|
NM_001042492.3(NF1):c.6682C>T (p.Gln2228Ter)
|
rs2069718249
|
|
|
NM_001042492.3(NF1):c.6684_6704+44del
|
|
|
|
NM_001042492.3(NF1):c.6686G>A (p.Trp2229Ter)
|
rs2151557496
|
|
|
NM_001042492.3(NF1):c.6686_6687insT (p.Trp2229fs)
|
rs2151557502
|
|
|
NM_001042492.3(NF1):c.6686_6688del (p.Trp2229_Thr2230delinsSer)
|
rs2069718437
|
|
|
NM_001042492.3(NF1):c.6686_6697delinsCA (p.Trp2229fs)
|
|
|
|
NM_001042492.3(NF1):c.6687G>A (p.Trp2229Ter)
|
rs1597844653
|
|
|
NM_001042492.3(NF1):c.6687_6688del (p.Trp2229fs)
|
|
|
|
NM_001042492.3(NF1):c.668G>A (p.Trp223Ter)
|
rs1567826110
|
|
|
NM_001042492.3(NF1):c.6697del (p.Ala2233fs)
|
|
|
|
NM_001042492.3(NF1):c.6699del (p.Gln2234fs)
|
rs1060500268
|
|
|
NM_001042492.3(NF1):c.669G>A (p.Trp223Ter)
|
rs1057517967
|
|
|
NM_001042492.3(NF1):c.6700C>T (p.Gln2234Ter)
|
rs1567617727
|
|
|
NM_001042492.3(NF1):c.6703A>T (p.Arg2235Ter)
|
rs2151557558
|
|
|
NM_001042492.3(NF1):c.6704+1G>A
|
rs1060500376
|
|
|
NM_001042492.3(NF1):c.6704+1G>C
|
rs1060500376
|
|
|
NM_001042492.3(NF1):c.6704+1del
|
rs1597844692
|
|
|
NM_001042492.3(NF1):c.6704+2T>A
|
|
|
|
NM_001042492.3(NF1):c.6704+2T>G
|
rs1555534928
|
|
|
NM_001042492.3(NF1):c.6704+2del
|
rs1555534929
|
|
|
NM_001042492.3(NF1):c.6705-17G>A
|
rs1064795966
|
|
|
NM_001042492.3(NF1):c.6705-1G>A
|
rs1060500356
|
|
|
NM_001042492.3(NF1):c.6705-1G>C
|
rs1060500356
|
|
|
NM_001042492.3(NF1):c.6705-1G>T
|
rs1060500356
|
|
|
NM_001042492.3(NF1):c.6705-3C>A
|
rs1131691079
|
|
|
NM_001042492.3(NF1):c.6705-3C>G
|
rs1131691079
|
|
|
NM_001042492.3(NF1):c.6705-5T>G
|
rs1597844956
|
|
|
NM_001042492.3(NF1):c.6705-6T>G
|
rs1597844950
|
|
|
NM_001042492.3(NF1):c.6705-7_6705-6insAAAA
|
rs2069724056
|
|
|
NM_001042492.3(NF1):c.670del (p.Trp223_Val224insTer)
|
|
|
|
NM_001042492.3(NF1):c.6713_6715del (p.Phe2238_Gln2239delinsTer)
|
rs1555534948
|
|
|
NM_001042492.3(NF1):c.6713del (p.Phe2238fs)
|
|
|
|
NM_001042492.3(NF1):c.6715C>T (p.Gln2239Ter)
|
rs1131691093
|
|
|
NM_001042492.3(NF1):c.6716_6729del (p.Gln2239fs)
|
|
|
|
NM_001042492.3(NF1):c.6719_6723del (p.Tyr2240fs)
|
rs2069724925
|
|
|
NM_001042492.3(NF1):c.6720T>G (p.Tyr2240Ter)
|
rs2151558071
|
|
|
NM_001042492.3(NF1):c.6720_6721dup (p.Asn2241fs)
|
rs2151558070
|
|
|
NM_001042492.3(NF1):c.6721_6722del (p.Asn2241fs)
|
rs2069725054
|
|
|
NM_001042492.3(NF1):c.6722dup (p.Asn2241fs)
|
rs1567617849
|
|
|
NM_001042492.3(NF1):c.6726_6727insGGAAA (p.Ser2243fs)
|
rs1555534950
|
|
|
NM_001042492.3(NF1):c.672_673delinsTT (p.Glu225Ter)
|
|
|
|
NM_001042492.3(NF1):c.6732del (p.Gln2245fs)
|
rs2151558108
|
|
|
NM_001042492.3(NF1):c.6733C>T (p.Gln2245Ter)
|
rs1597845013
|
|
|
NM_001042492.3(NF1):c.6736_6737del (p.Pro2246fs)
|
|
|
|
NM_001042492.3(NF1):c.6737del (p.Pro2246fs)
|
rs2151558122
|
|
|
NM_001042492.3(NF1):c.6741del (p.Ala2248fs)
|
|
|
|
NM_001042492.3(NF1):c.6747TGT[1] (p.Val2251del)
|
rs2069725866
|
|
|
NM_001042492.3(NF1):c.6747del (p.Val2250fs)
|
rs2151558160
|
|
|
NM_001042492.3(NF1):c.6750del (p.Val2251fs)
|
|
|
|
NM_001042492.3(NF1):c.6751_6754del (p.Val2251fs)
|
rs1567617877
|
|
|
NM_001042492.3(NF1):c.6751_6755del (p.Val2251fs)
|
|
|
|
NM_001042492.3(NF1):c.6756del (p.Phe2252fs)
|
|
|
|
NM_001042492.3(NF1):c.6765_6766del (p.Ile2255fs)
|
|
|
|
NM_001042492.3(NF1):c.6765dup (p.Ser2256Ter)
|
|
|
|
NM_001042492.3(NF1):c.6772C>T (p.Arg2258Ter)
|
rs876658541
|
|
|
NM_001042492.3(NF1):c.6777del (p.Ser2260fs)
|
|
|
|
NM_001042492.3(NF1):c.6787C>T (p.Gln2263Ter)
|
|
|
|
NM_001042492.3(NF1):c.6794del (p.Lys2265fs)
|
rs1597845155
|
|
|
NM_001042492.3(NF1):c.6796C>T (p.Gln2266Ter)
|
rs1555534955
|
|
|
NM_001042492.3(NF1):c.67del (p.Pro22_Ile23insTer)
|
rs1597625799
|
|
|
NM_001042492.3(NF1):c.6802del (p.Ile2268fs)
|
rs2069727641
|
|
|
NM_001042492.3(NF1):c.6803_6804del (p.Ile2268fs)
|
|
|
|
NM_001042492.3(NF1):c.6813_6814insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAACGCGCCCGGCCGATAATCCGTATTCTT (p.Ser2272delinsPhePhePhePhePhePheXaaXaaXaaXaaTer)
|
|
|
|
NM_001042492.3(NF1):c.6818A>G (p.Lys2273Arg)
|
rs1060500344
|
|
|
NM_001042492.3(NF1):c.6818A>T (p.Lys2273Met)
|
rs1060500344
|
|
|
NM_001042492.3(NF1):c.6819+1G>A
|
rs1555534964
|
|
|
NM_001042492.3(NF1):c.6819+1G>C
|
rs1555534964
|
|
|
NM_001042492.3(NF1):c.6819+1G>T
|
rs1555534964
|
|
|
NM_001042492.3(NF1):c.6819+2T>A
|
rs1135402894
|
|
|
NM_001042492.3(NF1):c.6819+2T>C
|
rs1135402894
|
|
|
NM_001042492.3(NF1):c.6819+2T>G
|
rs1135402894
|
|
|
NM_001042492.3(NF1):c.6819+3A>G
|
rs1555534966
|
|
|
NM_001042492.3(NF1):c.6819G>C (p.Lys2273Asn)
|
rs1060500373
|
|
|
NM_001042492.3(NF1):c.681T>A (p.Tyr227Ter)
|
rs745804540
|
|
|
NM_001042492.3(NF1):c.681T>G (p.Tyr227Ter)
|
rs745804540
|
|
|
NM_001042492.3(NF1):c.6820-10T>G
|
rs1597845883
|
|
|
NM_001042492.3(NF1):c.6820-1G>A
|
rs1060500266
|
|
|
NM_001042492.3(NF1):c.6820-1G>C
|
rs1060500266
|
|
|
NM_001042492.3(NF1):c.6820-2A>C
|
rs2151559073
|
|
|
NM_001042492.3(NF1):c.6820-9T>G
|
rs1597845886
|
|
|
NM_001042492.3(NF1):c.6820G>T (p.Ala2274Ser)
|
rs1555535023
|
|
|
NM_001042492.3(NF1):c.6823_6827delinsTGG (p.Leu2275fs)
|
rs2069742393
|
|
|
NM_001042492.3(NF1):c.6825dup (p.Glu2276Ter)
|
|
|
|
NM_001042492.3(NF1):c.6826G>T (p.Glu2276Ter)
|
rs2069742475
|
|
|
NM_001042492.3(NF1):c.6832_6833insAAA (p.Cys2278Ter)
|
|
|
|
NM_001042492.3(NF1):c.6832del (p.Cys2278fs)
|
rs2069742717
|
|
|
NM_001042492.3(NF1):c.6833dup (p.Cys2278fs)
|
rs1555535027
|
|
|
NM_001042492.3(NF1):c.6835_6836dup (p.Leu2279fs)
|
rs1597845926
|
|
|
NM_001042492.3(NF1):c.6836T>G (p.Leu2279Ter)
|
|
|
|
NM_001042492.3(NF1):c.6836dup (p.Leu2279fs)
|
rs1597845926
|
|
|
NM_001042492.3(NF1):c.6840del (p.Gly2281fs)
|
rs2069743106
|
|
|
NM_001042492.3(NF1):c.6841G>T (p.Gly2281Ter)
|
rs2069743252
|
|
|
NM_001042492.3(NF1):c.6845del (p.Pro2282fs)
|
rs2069743464
|
|
|
NM_001042492.3(NF1):c.6847dup (p.Asp2283fs)
|
rs2069743612
|
|
|
NM_001042492.3(NF1):c.684del (p.Asp229fs)
|
|
|
|
NM_001042492.3(NF1):c.6852_6853del (p.Tyr2285fs)
|
|
|
|
NM_001042492.3(NF1):c.6852_6853dup (p.Tyr2285fs)
|
rs2151559183
|
|
|
NM_001042492.3(NF1):c.6852_6855del (p.Tyr2285fs)
|
rs1555535032
|
|
|
NM_001042492.3(NF1):c.6853_6854insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAGGACCTGACACTT (p.Tyr2285delinsCysArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerTer)
|
|
|
|
NM_001042492.3(NF1):c.6854_6855insAA (p.Tyr2285Ter)
|
|
|
|
NM_001042492.3(NF1):c.6855C>A (p.Tyr2285Ter)
|
rs772295894
|
|
|
NM_001042492.3(NF1):c.6855del (p.Thr2284_Tyr2285insTer)
|
rs1555535042
|
|
|
NM_001042492.3(NF1):c.6858C>T (p.Asn2286=)
|
rs2151559216
|
|
|
NM_001042492.3(NF1):c.6858_6859del (p.Asn2286fs)
|
rs1555535044
|
|
|
NM_001042492.3(NF1):c.6861_6864dup (p.Val2289fs)
|
rs1567618250
|
|
|
NM_001042492.3(NF1):c.6862C>T (p.Gln2288Ter)
|
|
|
|
NM_001042492.3(NF1):c.6864A>G (p.Gln2288=)
|
rs1064794756
|
|
|
NM_001042492.3(NF1):c.6871del (p.Leu2290_Ile2291insTer)
|
|
|
|
NM_001042492.3(NF1):c.6877_6880del (p.Ala2293fs)
|
|
|
|
NM_001042492.3(NF1):c.6878_6879dup (p.Thr2294fs)
|
|
|
|
NM_001042492.3(NF1):c.6878del (p.Ala2293fs)
|
rs1135402895
|
|
|
NM_001042492.3(NF1):c.6883_6898del (p.Val2295fs)
|
rs2151559296
|
|
|
NM_001042492.3(NF1):c.6886dup (p.Ile2296fs)
|
|
|
|
NM_001042492.3(NF1):c.688G>T (p.Glu230Ter)
|
rs2066138676
|
|
|
NM_001042492.3(NF1):c.6892dup (p.Leu2298fs)
|
rs2069745140
|
|
|
NM_001042492.3(NF1):c.6895del (p.Thr2299fs)
|
|
|
|
NM_001042492.3(NF1):c.6897del (p.Lys2300fs)
|
|
|
|
NM_001042492.3(NF1):c.6898A>T (p.Lys2300Ter)
|
|
|
|
NM_001042492.3(NF1):c.68dup (p.Thr25fs)
|
rs2143625205
|
|
|
NM_001042492.3(NF1):c.6900dup (p.Leu2301fs)
|
rs1555535050
|
|
|
NM_001042492.3(NF1):c.6902T>A (p.Leu2301Ter)
|
|
|
|
NM_001042492.3(NF1):c.6902T>G (p.Leu2301Ter)
|
rs2069745354
|
|
|
NM_001042492.3(NF1):c.6904C>T (p.Gln2302Ter)
|
rs1057518807
|
|
|
NM_001042492.3(NF1):c.6906del (p.Gln2302fs)
|
rs1597846091
|
|
|
NM_001042492.3(NF1):c.6909del (p.Leu2304fs)
|
rs2151559384
|
|
|
NM_001042492.3(NF1):c.690_691insAAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAGAAAATTATCCAGATGAA (p.Glu230_Phe231insLysLeuLeuGlyArgLeuArgGlnGluAsnGlyValAsnProGlyGlyGlyAlaCysSerGluProArgSerArgXaaXaaXaaLysLysLysLysLysLysLysGluAsnTyrProAspGlu)
|
|
|
|
NM_001042492.3(NF1):c.6912_6916del (p.Leu2304_Leu2305insTer)
|
rs878853025
|
|
|
NM_001042492.3(NF1):c.6912del (p.Asn2306fs)
|
|
|
|
NM_001042492.3(NF1):c.6913del (p.Asn2306fs)
|
|
|
|
NM_001042492.3(NF1):c.6914_6915insATTAT (p.Asn2306fs)
|
|
|
|
NM_001042492.3(NF1):c.6915_6916dup (p.Asn2306fs)
|
rs1555535052
|
|
|
NM_001042492.3(NF1):c.6915_6916insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGCCACTTCTT (p.Asn2306delinsPhePhePhePhePhePheXaaXaaXaaXaaHisAspProProAlaSerAlaSerGlnSerAlaGlyIleThrGlyValSerHisArgAlaArgProAlaThrSerTer)
|
rs2151559369
|
|
|
NM_001042492.3(NF1):c.6915_6916insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTCATGATCCACCCGCCTCGGCCTCCCAACGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTACAGCCACTTCTT (p.Asn2306delinsPhePhePhePhePhePheXaaXaaXaaXaaLeuMetIleHisProProArgProProAsnValLeuGlyLeuGlnAlaTer)
|
|
|
|
NM_001042492.3(NF1):c.6915_6916insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGACAGCCACTTCTT (p.Asn2306delinsPhePhePhePhePhePheXaaXaaXaaXaaTer)
|
rs2151559362
|
|
|
NM_001042492.3(NF1):c.6921+1G>A
|
rs1060500355
|
|
|
NM_001042492.3(NF1):c.6921+1G>C
|
rs1060500355
|
|
|
NM_001042492.3(NF1):c.6921+1G>T
|
rs1060500355
|
|
|
NM_001042492.3(NF1):c.6921+2T>C
|
rs1555535053
|
|
|
NM_001042492.3(NF1):c.6921+3A>G
|
rs1085307885
|
|
|
NM_001042492.3(NF1):c.6921+3A>T
|
|
|
|
NM_001042492.3(NF1):c.6922-1G>A
|
|
|
|
NM_001042492.3(NF1):c.6922-1G>C
|
rs1131691115
|
|
|
NM_001042492.3(NF1):c.6922-2A>G
|
rs864622509
|
|
|
NM_001042492.3(NF1):c.6922-2A>T
|
rs864622509
|
|
|
NM_001042492.3(NF1):c.6922-7_6925dup
|
rs2151561390
|
|
|
NM_001042492.3(NF1):c.6925dup (p.Ser2309fs)
|
rs2069789572
|
|
|
NM_001042492.3(NF1):c.6926C>A (p.Ser2309Ter)
|
rs1555535159
|
|
|
NM_001042492.3(NF1):c.6927del (p.Pro2310fs)
|
rs2151561453
|
|
|
NM_001042492.3(NF1):c.6929del (p.Pro2310fs)
|
rs2151561461
|
|
|
NM_001042492.3(NF1):c.6930_6934dup (p.His2312fs)
|
rs2151561465
|
|
|
NM_001042492.3(NF1):c.6932_6933del (p.Leu2311fs)
|
rs2151561476
|
|
|
NM_001042492.3(NF1):c.6937_6956del (p.Lys2313fs)
|
|
|
|
NM_001042492.3(NF1):c.6939del (p.Ala2314fs)
|
rs2069790028
|
|
|
NM_001042492.3(NF1):c.693del (p.Phe231fs)
|
rs2143777901
|
|
|
NM_001042492.3(NF1):c.6948_6949del (p.Phe2316fs)
|
rs2069790360
|
|
|
NM_001042492.3(NF1):c.6949del (p.Trp2317fs)
|
rs2069790360
|
|
|
NM_001042492.3(NF1):c.6950G>A (p.Trp2317Ter)
|
rs2069790543
|
|
|
NM_001042492.3(NF1):c.6951G>A (p.Trp2317Ter)
|
|
|
|
NM_001042492.3(NF1):c.6952del (p.Trp2317_Val2318insTer)
|
rs1057519369
|
|
|
NM_001042492.3(NF1):c.6952dup (p.Val2318fs)
|
rs1057519369
|
|
|
NM_001042492.3(NF1):c.6954del (p.Ala2319fs)
|
|
|
|
NM_001042492.3(NF1):c.6970C>T (p.Gln2324Ter)
|
rs1131691073
|
|
|
NM_001042492.3(NF1):c.6971del (p.Gln2324fs)
|
|
|
|
NM_001042492.3(NF1):c.6977_6978dup (p.Glu2327fs)
|
rs2151561685
|
|
|
NM_001042492.3(NF1):c.6979dup (p.Glu2327fs)
|
rs2069791742
|
|
|
NM_001042492.3(NF1):c.6982_6983del (p.Val2328fs)
|
|
|
|
NM_001042492.3(NF1):c.6989T>A (p.Leu2330Ter)
|
rs2151561738
|
|
|
NM_001042492.3(NF1):c.6989dup (p.Leu2330fs)
|
rs2069792041
|
|
|
NM_001042492.3(NF1):c.698_716del (p.Lys233fs)
|
|
|
|
NM_001042492.3(NF1):c.6993T>A (p.Tyr2331Ter)
|
rs2069792220
|
|
|
NM_001042492.3(NF1):c.6993_7008del (p.Ser2332fs)
|
rs1555535177
|
|
|
NM_001042492.3(NF1):c.6995C>G (p.Ser2332Ter)
|
|
|
|
NM_001042492.3(NF1):c.699del (p.Lys233fs)
|
|
|
|
NM_001042492.3(NF1):c.7002_7003insG (p.Thr2335fs)
|
rs2151561787
|
|
|
NM_001042492.3(NF1):c.7003_7006dup (p.Ala2336fs)
|
|
|
|
NM_001042492.3(NF1):c.7003dup (p.Thr2335fs)
|
|
|
|
NM_001042492.3(NF1):c.7009CTT[1] (p.Leu2338del)
|
rs2069792818
|
|
|
NM_001042492.3(NF1):c.7009_7020del (p.Leu2337_Gln2340del)
|
|
|
|
NM_001042492.3(NF1):c.7010T>C (p.Leu2337Pro)
|
|
|
|
NM_001042492.3(NF1):c.7011del (p.Glu2339fs)
|
rs2151561827
|
|
|
NM_001042492.3(NF1):c.7013T>C (p.Leu2338Pro)
|
rs2151561836
|
|
|
NM_001042492.3(NF1):c.7015G>T (p.Glu2339Ter)
|
rs1060500359
|
|
|
NM_001042492.3(NF1):c.7018C>T (p.Gln2340Ter)
|
rs2069793099
|
|
|
NM_001042492.3(NF1):c.7027del (p.His2343fs)
|
|
|
|
NM_001042492.3(NF1):c.7028_7031del (p.His2343fs)
|
rs1131691083
|
|
|
NM_001042492.3(NF1):c.702_708del (p.Tyr235fs)
|
rs2066139158
|
|
|
NM_001042492.3(NF1):c.7030_7031insAAAACCTGCATACTTTAGATAGTCTCCGTATATTCAATGACAAGGTAAGCAAACTTTGCCTTGAGGTTCCTAGATTACTCAAATTTAGTACNNNNNNNNNNNNNNNNNNAAAAAAAAAAAAAAAAA (p.His2343_Thr2344insLysAsnLeuHisThrLeuAspSerLeuArgIlePheAsnAspLysValSerLysLeuCysLeuGluValProArgLeuLeuLysPheSerThrXaaXaaXaaXaaXaaXaaLysLysLysLysLys)
|
rs2151561896
|
|
|
NM_001042492.3(NF1):c.7030del (p.Thr2344fs)
|
rs1135402897
|
|
|
NM_001042492.3(NF1):c.7034T>G (p.Leu2345Ter)
|
rs1555535195
|
|
|
NM_001042492.3(NF1):c.7034_7041del (p.Leu2345fs)
|
rs1555535192
|
|
|
NM_001042492.3(NF1):c.7034del (p.Thr2344_Leu2345insTer)
|
rs2151561907
|
|
|
NM_001042492.3(NF1):c.7034dup (p.Leu2345fs)
|
rs2151561907
|
|
|
NM_001042492.3(NF1):c.7037_7040del (p.Asp2346fs)
|
rs1597848201
|
|
|
NM_001042492.3(NF1):c.7038del (p.Asp2346fs)
|
|
|
|
NM_001042492.3(NF1):c.7039dup (p.Ser2347fs)
|
rs2069794139
|
|
|
NM_001042492.3(NF1):c.7040del (p.Ser2347fs)
|
rs1597848220
|
|
|
NM_001042492.3(NF1):c.7048del (p.Ile2350fs)
|
rs2151561981
|
|
|
NM_001042492.3(NF1):c.7054_7062+10del
|
rs2151561997
|
|
|
NM_001042492.3(NF1):c.7059_7062dup (p.Ser2355fs)
|
rs2069795265
|
|
|
NM_001042492.3(NF1):c.7059dup (p.Lys2354fs)
|
rs2151562024
|
|
|
NM_001042492.3(NF1):c.705C>A (p.Tyr235Ter)
|
rs769048538
|
|
|
NM_001042492.3(NF1):c.705C>G (p.Tyr235Ter)
|
rs769048538
|
|
|
NM_001042492.3(NF1):c.7060A>T (p.Lys2354Ter)
|
rs2069795315
|
|
|
NM_001042492.3(NF1):c.7062+1G>A
|
rs863224492
|
|
|
NM_001042492.3(NF1):c.7062+1G>T
|
rs863224492
|
|
|
NM_001042492.3(NF1):c.7062+1_7062+2insA
|
rs2151562057
|
|
|
NM_001042492.3(NF1):c.7062+1_7062+5del
|
rs1567619134
|
|
|
NM_001042492.3(NF1):c.7062+2T>C
|
rs1135402898
|
|
|
NM_001042492.3(NF1):c.7063-10T>G
|
rs1597851210
|
|
|
NM_001042492.3(NF1):c.7063-1G>A
|
rs1131691114
|
|
|
NM_001042492.3(NF1):c.7063-1G>C
|
rs1131691114
|
|
|
NM_001042492.3(NF1):c.7063-1G>T
|
rs1131691114
|
|
|
NM_001042492.3(NF1):c.7063-1_7087dup
|
rs2151564939
|
|
|
NM_001042492.3(NF1):c.7063-2A>G
|
rs1597851255
|
|
|
NM_001042492.3(NF1):c.7063-2A>T
|
|
|
|
NM_001042492.3(NF1):c.7063-2del
|
rs2151564936
|
|
|
NM_001042492.3(NF1):c.7063-3T>G
|
rs1241158120
|
|
|
NM_001042492.3(NF1):c.7063-4A>G
|
rs749805168
|
|
|
NM_001042492.3(NF1):c.706C>T (p.Gln236Ter)
|
|
|
|
NM_001042492.3(NF1):c.706dup (p.Gln236fs)
|
rs1597658661
|
|
|
NM_001042492.3(NF1):c.7072G>T (p.Glu2358Ter)
|
rs2069865899
|
|
|
NM_001042492.3(NF1):c.7072_7075del (p.Glu2358fs)
|
rs2151564961
|
|
|
NM_001042492.3(NF1):c.7072del (p.Glu2358fs)
|
rs2151564965
|
|
|
NM_001042492.3(NF1):c.7076_7102del (p.Val2359_Leu2367del)
|
rs1555535403
|
|
|
NM_001042492.3(NF1):c.7076dup (p.Phe2360fs)
|
|
|
|
NM_001042492.3(NF1):c.707del (p.Gln236fs)
|
|
|
|
NM_001042492.3(NF1):c.7081del (p.Met2361fs)
|
|
|
|
NM_001042492.3(NF1):c.708del (p.Ile237fs)
|
|
|
|
NM_001042492.3(NF1):c.7092del (p.Asn2365fs)
|
rs2151565015
|
|
|
NM_001042492.3(NF1):c.7094del (p.Asn2365fs)
|
rs2151565023
|
|
|
NM_001042492.3(NF1):c.7095_7096dup (p.Pro2366fs)
|
|
|
|
NM_001042492.3(NF1):c.7097del (p.Pro2366fs)
|
|
|
|
NM_001042492.3(NF1):c.70A>T (p.Lys24Ter)
|
rs2143625250
|
|
|
NM_001042492.3(NF1):c.7102del (p.Glu2368fs)
|
rs1131691082
|
|
|
NM_001042492.3(NF1):c.7106G>A (p.Trp2369Ter)
|
rs2069867116
|
|
|
NM_001042492.3(NF1):c.7107G>A (p.Trp2369Ter)
|
rs1060500286
|
|
|
NM_001042492.3(NF1):c.710_711del (p.Ile237fs)
|
|
|
|
NM_001042492.3(NF1):c.7110_7111del (p.His2370fs)
|
rs1555535416
|
|
|
NM_001042492.3(NF1):c.7110del (p.Cys2371fs)
|
rs2069867387
|
|
|
NM_001042492.3(NF1):c.7113C>A (p.Cys2371Ter)
|
rs2069867490
|
|
|
NM_001042492.3(NF1):c.7114A>T (p.Lys2372Ter)
|
rs776506332
|
|
|
NM_001042492.3(NF1):c.7114_7133del (p.Lys2372fs)
|
rs2069867622
|
|
|
NM_001042492.3(NF1):c.7117C>T (p.Gln2373Ter)
|
rs1555535417
|
|
|
NM_001042492.3(NF1):c.7120dup (p.Met2374fs)
|
rs2069867738
|
|
|
NM_001042492.3(NF1):c.7121del (p.Met2374fs)
|
|
|
|
NM_001042492.3(NF1):c.7131del (p.Phe2377fs)
|
rs1597851351
|
|
|
NM_001042492.3(NF1):c.7131dup (p.Val2378fs)
|
rs1597851351
|
|
|
NM_001042492.3(NF1):c.7135G>T (p.Gly2379Ter)
|
|
|
|
NM_001042492.3(NF1):c.713_714insCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAACTGTACCAGATCCC (p.Gln239fs)
|
|
|
|
NM_001042492.3(NF1):c.7142dup (p.Asn2381fs)
|
rs2069868519
|
|
|
NM_001042492.3(NF1):c.7145del (p.Phe2382fs)
|
rs2151565168
|
|
|
NM_001042492.3(NF1):c.7146C>G (p.Phe2382Leu)
|
rs2151565177
|
|
|
NM_001042492.3(NF1):c.7146_7147insTTTTTTTTTTNNNNNNNNNNGGGGTTACACCGAGGTCTCGATCTCCTGACCTCGAGATCCGCACGCCTCGGCCTCCCAAAGAGCTGTGATTAAAGGCGTGAGCCACAGCGACCGGCCGGACTCAATTTC (p.Asn2383delinsPhePhePheXaaXaaXaaXaaGlyLeuHisArgGlyLeuAspLeuLeuThrSerArgSerAlaArgLeuGlyLeuProLysSerCysAspTer)
|
rs2151565142
|
|
|
NM_001042492.3(NF1):c.7148del (p.Asn2383fs)
|
|
|
|
NM_001042492.3(NF1):c.7151_7152dup (p.Asn2385fs)
|
|
|
|
NM_001042492.3(NF1):c.7151_7152insA (p.Ser2384_Asn2385insTer)
|
rs2069868919
|
|
|
NM_001042492.3(NF1):c.7152_7153insTT (p.Asn2385fs)
|
rs1555535434
|
|
|
NM_001042492.3(NF1):c.7152dup (p.Asn2385Ter)
|
rs1555535434
|
|
|
NM_001042492.3(NF1):c.7153AACTTT[1] (p.2385NF[1])
|
rs864622639
|
|
|
NM_001042492.3(NF1):c.7155_7158dup (p.Asn2387delinsLeuTer)
|
|
|
|
NM_001042492.3(NF1):c.7157T>C (p.Phe2386Ser)
|
rs1555535439
|
|
|
NM_001042492.3(NF1):c.7157_7158dup (p.Asn2387fs)
|
rs1597851420
|
|
|
NM_001042492.3(NF1):c.7158del (p.Phe2386fs)
|
rs1597851420
|
|
|
NM_001042492.3(NF1):c.7158dup (p.Asn2387Ter)
|
rs1597851420
|
|
|
NM_001042492.3(NF1):c.715C>T (p.Gln239Ter)
|
rs1597658676
|
|
|
NM_001042492.3(NF1):c.7160del (p.Asn2387fs)
|
|
|
|
NM_001042492.3(NF1):c.7163_7164del (p.Phe2388fs)
|
|
|
|
NM_001042492.3(NF1):c.7167del (p.Leu2390fs)
|
|
|
|
NM_001042492.3(NF1):c.7171del (p.Val2391fs)
|
rs2151565274
|
|
|
NM_001042492.3(NF1):c.7173_7174del (p.Gly2392fs)
|
rs2151565282
|
|
|
NM_001042492.3(NF1):c.7173dup (p.Gly2392fs)
|
|
|
|
NM_001042492.3(NF1):c.7174G>T (p.Gly2392Ter)
|
rs1357330262
|
|
|
NM_001042492.3(NF1):c.7178dup (p.His2393fs)
|
rs2151565309
|
|
|
NM_001042492.3(NF1):c.7180del (p.Leu2394fs)
|
|
|
|
NM_001042492.3(NF1):c.7184T>G (p.Leu2395Ter)
|
|
|
|
NM_001042492.3(NF1):c.7184del (p.Leu2394_Leu2395insTer)
|
rs2069870374
|
|
|
NM_001042492.3(NF1):c.7184dup (p.Leu2395fs)
|
rs2069870374
|
|
|
NM_001042492.3(NF1):c.7186A>T (p.Lys2396Ter)
|
rs1597851489
|
|
|
NM_001042492.3(NF1):c.7188del (p.Tyr2398fs)
|
rs777872719
|
|
|
NM_001042492.3(NF1):c.7188dup (p.Gly2397fs)
|
|
|
|
NM_001042492.3(NF1):c.7189+1G>A
|
rs1555535455
|
|
|
NM_001042492.3(NF1):c.7189+1G>C
|
rs1555535455
|
|
|
NM_001042492.3(NF1):c.7189+1G>T
|
rs1555535455
|
|
|
NM_001042492.3(NF1):c.7189+2T>C
|
|
|
|
NM_001042492.3(NF1):c.7189+3A>C
|
rs267606610
|
|
|
NM_001042492.3(NF1):c.7189G>A (p.Gly2397Arg)
|
rs1135402900
|
|
|
NM_001042492.3(NF1):c.7189G>T (p.Gly2397Trp)
|
|
|
|
NM_001042492.3(NF1):c.7190-12T>A
|
rs1597858284
|
|
|
NM_001042492.3(NF1):c.7190-1G>A
|
rs2070073417
|
|
|
NM_001042492.3(NF1):c.7190-1G>T
|
|
|
|
NM_001042492.3(NF1):c.7190-20T>A
|
rs1597858261
|
|
|
NM_001042492.3(NF1):c.7190-2A>G
|
rs772348111
|
|
|
NM_001042492.3(NF1):c.7190-6_7190-2del
|
rs2151572451
|
|
|
NM_001042492.3(NF1):c.7194C>A (p.Tyr2398Ter)
|
rs2070073649
|
|
|
NM_001042492.3(NF1):c.7194C>G (p.Tyr2398Ter)
|
rs2070073649
|
|
|
NM_001042492.3(NF1):c.7195del (p.Arg2399fs)
|
rs1131691102
|
|
|
NM_001042492.3(NF1):c.7197_7203dup (p.Ser2402fs)
|
|
|
|
NM_001042492.3(NF1):c.7204dup (p.Ser2402fs)
|
|
|
|
NM_001042492.3(NF1):c.7205C>G (p.Ser2402Ter)
|
rs2151572511
|
|
|
NM_001042492.3(NF1):c.7209del (p.Ala2404fs)
|
rs2070074227
|
|
|
NM_001042492.3(NF1):c.7212dup (p.Ile2405fs)
|
rs2070074350
|
|
|
NM_001042492.3(NF1):c.7226del (p.Thr2409fs)
|
rs2151572589
|
|
|
NM_001042492.3(NF1):c.7231A>T (p.Arg2411Ter)
|
rs2070074822
|
|
|
NM_001042492.3(NF1):c.7232_7233del (p.Arg2411fs)
|
rs2151572602
|
|
|
NM_001042492.3(NF1):c.7232_7258del (p.Arg2411_Val2420delinsIle)
|
rs1567623439
|
|
|
NM_001042492.3(NF1):c.7234del (p.Ile2412fs)
|
rs876658245
|
|
|
NM_001042492.3(NF1):c.7236_7321+332del
|
|
|
|
NM_001042492.3(NF1):c.7238T>A (p.Leu2413Ter)
|
rs775181940
|
|
|
NM_001042492.3(NF1):c.7242_7245del (p.Thr2415fs)
|
rs2070075185
|
|
|
NM_001042492.3(NF1):c.7247T>C (p.Leu2416Pro)
|
rs2151572659
|
|
|
NM_001042492.3(NF1):c.7247_7250dup (p.Leu2419fs)
|
rs2070075481
|
|
|
NM_001042492.3(NF1):c.7247_7304del (p.Leu2416fs)
|
|
|
|
NM_001042492.3(NF1):c.7249_7258dup (p.Val2420fs)
|
|
|
|
NM_001042492.3(NF1):c.7249del (p.Leu2416_Leu2417insTer)
|
rs1597858445
|
|
|
NM_001042492.3(NF1):c.724dup (p.Met242fs)
|
rs1555608763
|
|
|
NM_001042492.3(NF1):c.7252_7255del (p.Thr2418fs)
|
rs2151572676
|
|
|
NM_001042492.3(NF1):c.7255_7256del (p.Leu2419fs)
|
rs1597858459
|
|
|
NM_001042492.3(NF1):c.7256_7257del (p.Leu2419fs)
|
rs1555536027
|
|
|
NM_001042492.3(NF1):c.725_726insA (p.Met242fs)
|
|
|
|
NM_001042492.3(NF1):c.725del (p.Met242fs)
|
|
|
|
NM_001042492.3(NF1):c.7260_7264del (p.Asn2421fs)
|
rs2151572726
|
|
|
NM_001042492.3(NF1):c.7260del (p.Asn2421fs)
|
rs1135402901
|
|
|
NM_001042492.3(NF1):c.7260dup (p.Asn2421Ter)
|
rs1135402901
|
|
|
NM_001042492.3(NF1):c.7262_7266del (p.Asn2421fs)
|
rs2070076088
|
|
|
NM_001042492.3(NF1):c.7262del (p.Asn2421fs)
|
rs2070076040
|
|
|
NM_001042492.3(NF1):c.7265_7268del (p.Lys2422fs)
|
rs1567623480
|
|
|
NM_001042492.3(NF1):c.7266del (p.Lys2422fs)
|
rs2151572751
|
|
|
NM_001042492.3(NF1):c.7268del (p.His2423fs)
|
rs2070076467
|
|
|
NM_001042492.3(NF1):c.7268dup (p.His2423fs)
|
|
|
|
NM_001042492.3(NF1):c.7269_7270del (p.His2423fs)
|
rs878853913
|
|
|
NM_001042492.3(NF1):c.7271_7272del (p.Arg2424fs)
|
rs2070076529
|
|
|
NM_001042492.3(NF1):c.7271del (p.Arg2424fs)
|
|
|
|
NM_001042492.3(NF1):c.7272_7273insTATGTAGAAAGCTGAAACTGGATCCCTTCCTTACACCTTATACAAAAATCAATTCAAGATGGATTAAAGATTTAAACGTNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAACAAACACAGA (p.Asn2425delinsTyrValGluSerTer)
|
|
|
|
NM_001042492.3(NF1):c.7274del (p.Asn2425fs)
|
rs1555536030
|
|
|
NM_001042492.3(NF1):c.7278T>A (p.Cys2426Ter)
|
rs1567623508
|
|
|
NM_001042492.3(NF1):c.7278_7279del (p.Cys2426_Asp2427delinsTer)
|
rs2070076932
|
|
|
NM_001042492.3(NF1):c.7278del (p.Cys2426fs)
|
rs2070077052
|
|
|
NM_001042492.3(NF1):c.7281del (p.Asp2427fs)
|
rs2070077277
|
|
|
NM_001042492.3(NF1):c.7284del (p.Lys2428fs)
|
rs2070077334
|
|
|
NM_001042492.3(NF1):c.7287del (p.Phe2429fs)
|
rs1135402902
|
|
|
NM_001042492.3(NF1):c.7288G>T (p.Glu2430Ter)
|
rs1555536035
|
|
|
NM_001042492.3(NF1):c.7290del (p.Glu2430_Val2431insTer)
|
rs2070077732
|
|
|
NM_001042492.3(NF1):c.7291_7295del (p.Val2431fs)
|
|
|
|
NM_001042492.3(NF1):c.7292dup (p.Asn2432fs)
|
|
|
|
NM_001042492.3(NF1):c.72_73dup (p.Thr25fs)
|
rs2143625237
|
|
|
NM_001042492.3(NF1):c.730+1G>A
|
rs1060500274
|
|
|
NM_001042492.3(NF1):c.730+1G>C
|
rs1060500274
|
|
|
NM_001042492.3(NF1):c.730+1G>T
|
rs1060500274
|
|
|
NM_001042492.3(NF1):c.730+2T>G
|
rs200962248
|
|
|
NM_001042492.3(NF1):c.7300C>T (p.Gln2434Ter)
|
rs2151572890
|
|
|
NM_001042492.3(NF1):c.7300_7301del (p.Gln2434fs)
|
rs2151572876
|
|
|
NM_001042492.3(NF1):c.7303_7304del (p.Ser2435fs)
|
rs1597858594
|
|
|
NM_001042492.3(NF1):c.730G>A (p.Glu244Lys)
|
rs1567826188
|
|
|
NM_001042492.3(NF1):c.731-14T>G
|
rs1597659694
|
|
|
NM_001042492.3(NF1):c.731-1G>A
|
rs1555608928
|
|
|
NM_001042492.3(NF1):c.731-1G>C
|
rs1555608928
|
|
|
NM_001042492.3(NF1):c.731-1G>T
|
rs1555608928
|
|
|
NM_001042492.3(NF1):c.731-1_731del
|
rs1555608925
|
|
|
NM_001042492.3(NF1):c.731-2A>C
|
rs1555608924
|
|
|
NM_001042492.3(NF1):c.731-2A>G
|
rs1555608924
|
|
|
NM_001042492.3(NF1):c.731-2A>T
|
rs1555608924
|
|
|
NM_001042492.3(NF1):c.731-2del
|
|
|
|
NM_001042492.3(NF1):c.731-5T>G
|
rs1597659721
|
|
|
NM_001042492.3(NF1):c.731-6_733del
|
rs2143784739
|
|
|
NM_001042492.3(NF1):c.7312_7313dup (p.Leu2439fs)
|
|
|
|
NM_001042492.3(NF1):c.7314C>G (p.Tyr2438Ter)
|
rs1060500385
|
|
|
NM_001042492.3(NF1):c.7314_7317del (p.Ala2437_Tyr2438insTer)
|
rs2070078716
|
|
|
NM_001042492.3(NF1):c.7314del (p.Tyr2438_Leu2439insTer)
|
|
|
|
NM_001042492.3(NF1):c.7316T>G (p.Leu2439Ter)
|
rs2070078996
|
|
|
NM_001042492.3(NF1):c.7317dup (p.Ala2440fs)
|
rs2151572967
|
|
|
NM_001042492.3(NF1):c.7319C>T (p.Ala2440Val)
|
|
|
|
NM_001042492.3(NF1):c.7320del (p.Ala2441fs)
|
rs1060500300
|
|
|
NM_001042492.3(NF1):c.7321+1G>A
|
|
|
|
NM_001042492.3(NF1):c.7321+1G>T
|
rs1135402903
|
|
|
NM_001042492.3(NF1):c.7322-2A>G
|
|
|
|
NM_001042492.3(NF1):c.7322-2_7347del
|
|
|
|
NM_001042492.3(NF1):c.7322del (p.Ala2441fs)
|
rs1131691113
|
|
|
NM_001042492.3(NF1):c.7324_7325dup (p.Leu2442fs)
|
|
|
|
NM_001042492.3(NF1):c.7325T>A (p.Leu2442Ter)
|
|
|
|
NM_001042492.3(NF1):c.7325T>G (p.Leu2442Ter)
|
rs2151574236
|
|
|
NM_001042492.3(NF1):c.7325_7329del (p.Leu2442fs)
|
|
|
|
NM_001042492.3(NF1):c.7325del (p.Leu2442fs)
|
rs1597859558
|
|
|
NM_001042492.3(NF1):c.7325dup (p.Leu2442fs)
|
rs1597859558
|
|
|
NM_001042492.3(NF1):c.7328_7331del (p.Leu2443fs)
|
rs1597859566
|
|
|
NM_001042492.3(NF1):c.732dup (p.Cys245fs)
|
|
|
|
NM_001042492.3(NF1):c.7330_7331insAA (p.Thr2444fs)
|
rs1064794278
|
|
|
NM_001042492.3(NF1):c.7330dup (p.Thr2444fs)
|
rs1064794278
|
|
|
NM_001042492.3(NF1):c.7331_7332del (p.Thr2444fs)
|
|
|
|
NM_001042492.3(NF1):c.7335_7336del (p.Val2445_Ser2446insTer)
|
rs2151574274
|
|
|
NM_001042492.3(NF1):c.7337_7338del (p.Val2445_Ser2446insTer)
|
rs1135402904
|
|
|
NM_001042492.3(NF1):c.7344_7345del (p.Glu2448fs)
|
|
|
|
NM_001042492.3(NF1):c.7348C>T (p.Arg2450Ter)
|
rs786202457
|
|
|
NM_001042492.3(NF1):c.7359C>A (p.Cys2453Ter)
|
rs1555536126
|
|
|
NM_001042492.3(NF1):c.7363_7364dup (p.Leu2455_Lys2456insTer)
|
|
|
|
NM_001042492.3(NF1):c.7366_7370del (p.Leu2455_Lys2456insTer)
|
rs2151574380
|
|
|
NM_001042492.3(NF1):c.7368del (p.Lys2456fs)
|
|
|
|
NM_001042492.3(NF1):c.7369_7370del (p.Lys2456_His2457insTer)
|
rs2151574391
|
|
|
NM_001042492.3(NF1):c.7371_7372del (p.His2457fs)
|
|
|
|
NM_001042492.3(NF1):c.7371_7372dup (p.Arg2458fs)
|
|
|
|
NM_001042492.3(NF1):c.7372A>T (p.Arg2458Ter)
|
|
|
|
NM_001042492.3(NF1):c.7373del (p.Arg2458fs)
|
rs1060500335
|
|
|
NM_001042492.3(NF1):c.7374_7377del (p.Arg2458fs)
|
rs2070105179
|
|
|
NM_001042492.3(NF1):c.7376del (p.Lys2459fs)
|
rs2151574416
|
|
|
NM_001042492.3(NF1):c.7379C>A (p.Ser2460Ter)
|
|
|
|
NM_001042492.3(NF1):c.7383del (p.Leu2462fs)
|
rs1135402905
|
|
|
NM_001042492.3(NF1):c.7389del (p.Thr2464fs)
|
|
|
|
NM_001042492.3(NF1):c.7391_7407del (p.Thr2464fs)
|
|
|
|
NM_001042492.3(NF1):c.7392del (p.Asp2465fs)
|
rs786202180
|
|
|
NM_001042492.3(NF1):c.7393del (p.Asp2465fs)
|
rs1597859719
|
|
|
NM_001042492.3(NF1):c.7396dup (p.Ile2466fs)
|
rs2151574478
|
|
|
NM_001042492.3(NF1):c.7399dup (p.Ser2467fs)
|
|
|
|
NM_001042492.3(NF1):c.739G>T (p.Glu247Ter)
|
rs2143784954
|
|
|
NM_001042492.3(NF1):c.7400C>A (p.Ser2467Ter)
|
rs1555536135
|
|
|
NM_001042492.3(NF1):c.7400C>G (p.Ser2467Ter)
|
|
|
|
NM_001042492.3(NF1):c.7405G>T (p.Glu2469Ter)
|
rs2151574502
|
|
|
NM_001042492.3(NF1):c.7409del (p.Asn2470fs)
|
|
|
|
NM_001042492.3(NF1):c.7409dup (p.Asn2470fs)
|
rs1135402906
|
|
|
NM_001042492.3(NF1):c.7414_7415del (p.Pro2472fs)
|
|
|
|
NM_001042492.3(NF1):c.7415del (p.Pro2472fs)
|
rs1597859768
|
|
|
NM_001042492.3(NF1):c.7420dup (p.Asp2474fs)
|
rs2151574538
|
|
|
NM_001042492.3(NF1):c.7421del (p.Asp2474fs)
|
rs2070107315
|
|
|
NM_001042492.3(NF1):c.7422dup (p.Thr2475fs)
|
rs1131691107
|
|
|
NM_001042492.3(NF1):c.7423_7433del (p.Thr2475fs)
|
rs2151574551
|
|
|
NM_001042492.3(NF1):c.7424del (p.Thr2475fs)
|
rs2151574567
|
|
|
NM_001042492.3(NF1):c.7428T>A (p.Tyr2476Ter)
|
rs181397225
|
|
|
NM_001042492.3(NF1):c.7428T>G (p.Tyr2476Ter)
|
|
|
|
NM_001042492.3(NF1):c.7428del (p.Ile2478fs)
|
|
|
|
NM_001042492.3(NF1):c.7437dup (p.His2480fs)
|
rs2151574617
|
|
|
NM_001042492.3(NF1):c.743del (p.Lys248fs)
|
|
|
|
NM_001042492.3(NF1):c.7442del (p.Gly2481fs)
|
rs2151574635
|
|
|
NM_001042492.3(NF1):c.7446_7457+6del
|
rs2151574649
|
|
|
NM_001042492.3(NF1):c.7448_7457del (p.Pro2483fs)
|
rs1597859854
|
|
|
NM_001042492.3(NF1):c.7452del (p.Tyr2485fs)
|
rs2070108683
|
|
|
NM_001042492.3(NF1):c.7453dup (p.Tyr2485fs)
|
rs2070108811
|
|
|
NM_001042492.3(NF1):c.7455T>A (p.Tyr2485Ter)
|
rs1597859871
|
|
|
NM_001042492.3(NF1):c.7455_7456dup (p.Arg2486fs)
|
rs2151574678
|
|
|
NM_001042492.3(NF1):c.7457+1dup
|
rs2070109145
|
|
|
NM_001042492.3(NF1):c.7458-1G>A
|
rs1597862012
|
|
|
NM_001042492.3(NF1):c.7458-1G>C
|
rs1597862012
|
|
|
NM_001042492.3(NF1):c.7458-1G>T
|
|
|
|
NM_001042492.3(NF1):c.7458-1_7459delinsTTT
|
rs2151576885
|
|
|
NM_001042492.3(NF1):c.7458-2A>C
|
|
|
|
NM_001042492.3(NF1):c.7458-2_7459del
|
rs1597862010
|
|
|
NM_001042492.3(NF1):c.7458_7462delinsTCT (p.Arg2486fs)
|
rs2070166483
|
|
|
NM_001042492.3(NF1):c.7465A>T (p.Lys2489Ter)
|
rs1555536338
|
|
|
NM_001042492.3(NF1):c.7466del (p.Lys2489fs)
|
rs2151576904
|
|
|
NM_001042492.3(NF1):c.746T>C (p.Leu249Pro)
|
rs1567826623
|
|
|
NM_001042492.3(NF1):c.746_747delinsCT (p.Leu249Pro)
|
|
|
|
NM_001042492.3(NF1):c.7474C>T (p.Gln2492Ter)
|
rs1555536340
|
|
|
NM_001042492.3(NF1):c.7481G>A (p.Trp2494Ter)
|
rs2070167232
|
|
|
NM_001042492.3(NF1):c.7482G>A (p.Trp2494Ter)
|
rs863224493
|
|
|
NM_001042492.3(NF1):c.7496_7497insA (p.Ser2500fs)
|
|
|
|
NM_001042492.3(NF1):c.7496del (p.Gly2499fs)
|
rs1555536352
|
|
|
NM_001042492.3(NF1):c.7501G>T (p.Glu2501Ter)
|
|
|
|
NM_001042492.3(NF1):c.7504G>T (p.Gly2502Ter)
|
rs1555536357
|
|
|
NM_001042492.3(NF1):c.7505_7508dup (p.Tyr2503Ter)
|
rs1597862086
|
|
|
NM_001042492.3(NF1):c.7505del (p.Gly2502fs)
|
rs1555536358
|
|
|
NM_001042492.3(NF1):c.7505dup (p.Tyr2503fs)
|
|
|
|
NM_001042492.3(NF1):c.7508del (p.Tyr2503fs)
|
|
|
|
NM_001042492.3(NF1):c.7509C>A (p.Tyr2503Ter)
|
rs1555536359
|
|
|
NM_001042492.3(NF1):c.7509C>G (p.Tyr2503Ter)
|
rs1555536359
|
|
|
NM_001042492.3(NF1):c.750del (p.Phe250fs)
|
rs1567826633
|
|
|
NM_001042492.3(NF1):c.750dup (p.Asp251Ter)
|
|
|
|
NM_001042492.3(NF1):c.7524T>G (p.Tyr2508Ter)
|
rs2151577136
|
|
|
NM_001042492.3(NF1):c.7524_7525del (p.Pro2509fs)
|
rs2151577142
|
|
|
NM_001042492.3(NF1):c.7526dup (p.Thr2510fs)
|
rs2151577150
|
|
|
NM_001042492.3(NF1):c.7527_7528insTA (p.Thr2510Ter)
|
|
|
|
NM_001042492.3(NF1):c.752_753insGG (p.Asp251fs)
|
|
|
|
NM_001042492.3(NF1):c.7531_7532del (p.Val2511fs)
|
rs2070169785
|
|
|
NM_001042492.3(NF1):c.7534_7537dup (p.Gln2513fs)
|
rs2070170042
|
|
|
NM_001042492.3(NF1):c.7537C>T (p.Gln2513Ter)
|
rs2070170274
|
|
|
NM_001042492.3(NF1):c.7544del (p.Ser2515fs)
|
rs2070170648
|
|
|
NM_001042492.3(NF1):c.7549C>T (p.Arg2517Ter)
|
rs866445127
|
|
|
NM_001042492.3(NF1):c.7554del (p.Arg2519fs)
|
|
|
|
NM_001042492.3(NF1):c.755T>A (p.Leu252Ter)
|
rs2143785161
|
|
|
NM_001042492.3(NF1):c.755del (p.Leu252fs)
|
|
|
|
NM_001042492.3(NF1):c.755dup (p.Leu252fs)
|
|
|
|
NM_001042492.3(NF1):c.7561delinsCC (p.Ser2521fs)
|
|
|
|
NM_001042492.3(NF1):c.7573_7574insT (p.Asp2525fs)
|
rs2070171459
|
|
|
NM_001042492.3(NF1):c.757dup (p.Val253fs)
|
rs2143785195
|
|
|
NM_001042492.3(NF1):c.7581del (p.Gln2528fs)
|
rs878853917
|
|
|
NM_001042492.3(NF1):c.7582C>T (p.Gln2528Ter)
|
rs2070171679
|
|
|
NM_001042492.3(NF1):c.7582del (p.Gln2528fs)
|
|
|
|
NM_001042492.3(NF1):c.7591C>T (p.Gln2531Ter)
|
rs1555536372
|
|
|
NM_001042492.3(NF1):c.7594del (p.Ala2532fs)
|
rs2151577375
|
|
|
NM_001042492.3(NF1):c.7602_7603insG (p.Lys2535fs)
|
|
|
|
NM_001042492.3(NF1):c.7602dup (p.Lys2535Ter)
|
rs2070172428
|
|
|
NM_001042492.3(NF1):c.7603A>T (p.Lys2535Ter)
|
rs2070172476
|
|
|
NM_001042492.3(NF1):c.7605del (p.Lys2536fs)
|
|
|
|
NM_001042492.3(NF1):c.7606_7615+1del
|
rs1131691120
|
|
|
NM_001042492.3(NF1):c.7607del (p.Lys2536fs)
|
rs1060500327
|
|
|
NM_001042492.3(NF1):c.7608del (p.Lys2536fs)
|
rs2070172706
|
|
|
NM_001042492.3(NF1):c.7610del (p.Leu2537fs)
|
rs2151577433
|
|
|
NM_001042492.3(NF1):c.7612del (p.Gly2539fs)
|
rs1597862293
|
|
|
NM_001042492.3(NF1):c.7614del (p.Gly2539fs)
|
rs2070173038
|
|
|
NM_001042492.3(NF1):c.7615+1G>A
|
rs1555536380
|
|
|
NM_001042492.3(NF1):c.7615+1G>T
|
rs1555536380
|
|
|
NM_001042492.3(NF1):c.7615G>T (p.Gly2539Ter)
|
|
|
|
NM_001042492.3(NF1):c.7619del (p.Thr2540fs)
|
rs2151580997
|
|
|
NM_001042492.3(NF1):c.761_764del (p.Asp254fs)
|
|
|
|
NM_001042492.3(NF1):c.7628del (p.Ser2543fs)
|
rs2070273084
|
|
|
NM_001042492.3(NF1):c.7632del (p.Phe2544fs)
|
rs2151581029
|
|
|
NM_001042492.3(NF1):c.7644dup (p.Ser2549fs)
|
rs2151581069
|
|
|
NM_001042492.3(NF1):c.7646C>A (p.Ser2549Ter)
|
rs2070273520
|
|
|
NM_001042492.3(NF1):c.7646C>G (p.Ser2549Ter)
|
|
|
|
NM_001042492.3(NF1):c.7647del (p.Asp2550fs)
|
rs1597865773
|
|
|
NM_001042492.3(NF1):c.7652_7653del (p.Thr2551fs)
|
rs2151581084
|
|
|
NM_001042492.3(NF1):c.7655del (p.Lys2552fs)
|
|
|
|
NM_001042492.3(NF1):c.7660_7667del (p.Pro2554fs)
|
|
|
|
NM_001042492.3(NF1):c.7662_7664delinsAG (p.Lys2555fs)
|
rs1567626632
|
|
|
NM_001042492.3(NF1):c.7663A>T (p.Lys2555Ter)
|
|
|
|
NM_001042492.3(NF1):c.7666dup (p.Arg2556fs)
|
rs2151581134
|
|
|
NM_001042492.3(NF1):c.7672G>T (p.Glu2558Ter)
|
|
|
|
NM_001042492.3(NF1):c.7682C>A (p.Ser2561Ter)
|
rs2070274228
|
|
|
NM_001042492.3(NF1):c.7682C>G (p.Ser2561Ter)
|
rs2070274228
|
|
|
NM_001042492.3(NF1):c.768del (p.Phe256fs)
|
rs1597659830
|
|
|
NM_001042492.3(NF1):c.7701del (p.Lys2568_Met2569insTer)
|
rs1060500295
|
|
|
NM_001042492.3(NF1):c.7701dup (p.Lys2568fs)
|
rs1060500295
|
|
|
NM_001042492.3(NF1):c.7724_7725dup (p.Asp2576fs)
|
rs1597865858
|
|
|
NM_001042492.3(NF1):c.7725_7726del (p.Asp2576fs)
|
rs2070275502
|
|
|
NM_001042492.3(NF1):c.7726_7729del (p.Asp2576fs)
|
|
|
|
NM_001042492.3(NF1):c.7738+1G>A
|
|
|
|
NM_001042492.3(NF1):c.7739-1G>A
|
|
|
|
NM_001042492.3(NF1):c.7739-2A>G
|
rs2151582146
|
|
|
NM_001042492.3(NF1):c.7739-3C>G
|
rs747382969
|
|
|
NM_001042492.3(NF1):c.7739-3_7743delCAGAAACT
|
|
|
|
NM_001042492.3(NF1):c.7745_7751del (p.Gln2582fs)
|
|
|
|
NM_001042492.3(NF1):c.7745del (p.Gln2582fs)
|
rs2151582179
|
|
|
NM_001042492.3(NF1):c.7745dup (p.Arg2583fs)
|
rs1555536683
|
|
|
NM_001042492.3(NF1):c.7747_7748del (p.Arg2583fs)
|
rs1135402907
|
|
|
NM_001042492.3(NF1):c.7747_7748dup (p.Ile2584fs)
|
rs1135402907
|
|
|
NM_001042492.3(NF1):c.7749del (p.Ile2584fs)
|
rs2151582195
|
|
|
NM_001042492.3(NF1):c.7753dup (p.Ser2585fs)
|
rs1555536685
|
|
|
NM_001042492.3(NF1):c.7755del (p.Ser2586fs)
|
|
|
|
NM_001042492.3(NF1):c.7757C>G (p.Ser2586Ter)
|
|
|
|
NM_001042492.3(NF1):c.7757_7758dup (p.Ser2587fs)
|
rs1597866350
|
|
|
NM_001042492.3(NF1):c.7759del (p.Ser2587fs)
|
|
|
|
NM_001042492.3(NF1):c.7760C>G (p.Ser2587Ter)
|
rs1131691090
|
|
|
NM_001042492.3(NF1):c.7762C>T (p.Gln2588Ter)
|
rs1555536687
|
|
|
NM_001042492.3(NF1):c.7764del (p.Gln2588fs)
|
rs2151582236
|
|
|
NM_001042492.3(NF1):c.7765C>T (p.Gln2589Ter)
|
rs1555536689
|
|
|
NM_001042492.3(NF1):c.776del (p.Ser259fs)
|
rs2143785464
|
|
|
NM_001042492.3(NF1):c.7772del (p.Pro2591fs)
|
rs1064795136
|
|
|
NM_001042492.3(NF1):c.7773del (p.His2592fs)
|
|
|
|
NM_001042492.3(NF1):c.7778T>A (p.Leu2593Ter)
|
|
|
|
NM_001042492.3(NF1):c.7778del (p.Leu2593fs)
|
rs1567626919
|
|
|
NM_001042492.3(NF1):c.7782del (p.Val2596fs)
|
rs1135402908
|
|
|
NM_001042492.3(NF1):c.7783A>T (p.Lys2595Ter)
|
|
|
|
NM_001042492.3(NF1):c.7784_7785del (p.Lys2595fs)
|
rs1597866414
|
|
|
NM_001042492.3(NF1):c.7788_7789dup (p.Ser2597fs)
|
rs2070287917
|
|
|
NM_001042492.3(NF1):c.7788_7789insG (p.Ser2597fs)
|
rs2151582311
|
|
|
NM_001042492.3(NF1):c.7790C>A (p.Ser2597Ter)
|
rs1567626945
|
|
|
NM_001042492.3(NF1):c.7793del (p.Val2598fs)
|
rs2151582319
|
|
|
NM_001042492.3(NF1):c.7797dup (p.Glu2600Ter)
|
rs863224837
|
|
|
NM_001042492.3(NF1):c.77del (p.Gly26fs)
|
rs2143625360
|
|
|
NM_001042492.3(NF1):c.77dup (p.Gln27fs)
|
rs2143625360
|
|
|
NM_001042492.3(NF1):c.7802C>A (p.Ser2601Ter)
|
rs2070288287
|
|
|
NM_001042492.3(NF1):c.7802C>G (p.Ser2601Ter)
|
rs2070288287
|
|
|
NM_001042492.3(NF1):c.7805del (p.Asn2602fs)
|
|
|
|
NM_001042492.3(NF1):c.7807_7811del (p.Val2603fs)
|
|
|
|
NM_001042492.3(NF1):c.7808_7809dup (p.Leu2604fs)
|
|
|
|
NM_001042492.3(NF1):c.7811del (p.Leu2604fs)
|
rs1555536701
|
|
|
NM_001042492.3(NF1):c.7814del (p.Leu2605fs)
|
rs2151582390
|
|
|
NM_001042492.3(NF1):c.7816_7819del (p.Asp2606fs)
|
|
|
|
NM_001042492.3(NF1):c.7816_7822del (p.Asp2606fs)
|
rs2151582400
|
|
|
NM_001042492.3(NF1):c.7819_7822dup (p.Glu2608fs)
|
|
|
|
NM_001042492.3(NF1):c.7821_7822insTC (p.Glu2608fs)
|
rs2151582417
|
|
|
NM_001042492.3(NF1):c.7822dup (p.Glu2608fs)
|
|
|
|
NM_001042492.3(NF1):c.7831dup (p.Thr2611fs)
|
|
|
|
NM_001042492.3(NF1):c.7838del (p.Pro2613fs)
|
rs1131691129
|
|
|
NM_001042492.3(NF1):c.7838dup (p.Lys2614fs)
|
rs1131691129
|
|
|
NM_001042492.3(NF1):c.7839del (p.Lys2614fs)
|
rs2070290006
|
|
|
NM_001042492.3(NF1):c.7842_7845del (p.Lys2614fs)
|
rs2070290107
|
|
|
NM_001042492.3(NF1):c.7847_7850del (p.Gln2616fs)
|
rs1597866554
|
|
|
NM_001042492.3(NF1):c.7855_7864del (p.Leu2619fs)
|
|
|
|
NM_001042492.3(NF1):c.785del (p.Arg262fs)
|
rs2143785630
|
|
|
NM_001042492.3(NF1):c.7860_7861dup (p.Thr2621fs)
|
|
|
|
NM_001042492.3(NF1):c.7860del (p.Thr2621fs)
|
rs2070290843
|
|
|
NM_001042492.3(NF1):c.7865_7868dup (p.Ala2624fs)
|
|
|
|
NM_001042492.3(NF1):c.7869+1G>A
|
rs1329683225
|
|
|
NM_001042492.3(NF1):c.7869+1G>C
|
rs1329683225
|
|
|
NM_001042492.3(NF1):c.7869+2T>A
|
rs1555536724
|
|
|
NM_001042492.3(NF1):c.7869+2T>C
|
rs1555536724
|
|
|
NM_001042492.3(NF1):c.7869+2T>G
|
rs1555536724
|
|
|
NM_001042492.3(NF1):c.786_787insTT (p.Lys263fs)
|
rs1597659879
|
|
|
NM_001042492.3(NF1):c.7870-1G>A
|
rs1567627138
|
|
|
NM_001042492.3(NF1):c.7870-1G>C
|
rs1567627138
|
|
|
NM_001042492.3(NF1):c.7870-24_7870-19delinsTTTTAG
|
rs1597866743
|
|
|
NM_001042492.3(NF1):c.7870-2A>C
|
rs2070296011
|
|
|
NM_001042492.3(NF1):c.7870-2A>G
|
rs2070296011
|
|
|
NM_001042492.3(NF1):c.7870-3C>G
|
rs1597866792
|
|
|
NM_001042492.3(NF1):c.7880del (p.Val2627fs)
|
|
|
|
NM_001042492.3(NF1):c.7880dup (p.Tyr2629fs)
|
|
|
|
NM_001042492.3(NF1):c.7895A>G (p.Asp2632Gly)
|
rs1597866846
|
|
|
NM_001042492.3(NF1):c.7895del (p.Asp2632fs)
|
rs2151583226
|
|
|
NM_001042492.3(NF1):c.7897G>T (p.Glu2633Ter)
|
|
|
|
NM_001042492.3(NF1):c.7897dup (p.Glu2633fs)
|
rs2151583236
|
|
|
NM_001042492.3(NF1):c.7898del (p.Glu2633fs)
|
rs1597866854
|
|
|
NM_001042492.3(NF1):c.789del (p.Ala264fs)
|
rs1135402795
|
|
|
NM_001042492.3(NF1):c.789dup (p.Ala264fs)
|
|
|
|
NM_001042492.3(NF1):c.7906C>T (p.Gln2636Ter)
|
rs567988442
|
|
|
NM_001042492.3(NF1):c.7908del (p.Gln2636fs)
|
rs1597866872
|
|
|
NM_001042492.3(NF1):c.7909C>T (p.Arg2637Ter)
|
rs786201367
|
|
|
NM_001042492.3(NF1):c.790del (p.Ala264fs)
|
rs1597659893
|
|
|
NM_001042492.3(NF1):c.7912del (p.Ile2638fs)
|
|
|
|
NM_001042492.3(NF1):c.7917_7918insA (p.Tyr2640fs)
|
rs1597866897
|
|
|
NM_001042492.3(NF1):c.7920T>G (p.Tyr2640Ter)
|
rs1060500333
|
|
|
NM_001042492.3(NF1):c.7921G>T (p.Glu2641Ter)
|
|
|
|
NM_001042492.3(NF1):c.7921_7924dup (p.Tyr2642Ter)
|
|
|
|
NM_001042492.3(NF1):c.7921del (p.Glu2641fs)
|
rs1567627210
|
|
|
NM_001042492.3(NF1):c.7923del (p.Glu2641fs)
|
rs1597866921
|
|
|
NM_001042492.3(NF1):c.7925_7926insT (p.Ala2644fs)
|
|
|
|
NM_001042492.3(NF1):c.7926C>G (p.Tyr2642Ter)
|
rs1567627217
|
|
|
NM_001042492.3(NF1):c.7928_7929insGT (p.Leu2643_Ala2644insTer)
|
|
|
|
NM_001042492.3(NF1):c.7928del (p.Tyr2642_Leu2643insTer)
|
|
|
|
NM_001042492.3(NF1):c.792del (p.Ala265fs)
|
rs1135402796
|
|
|
NM_001042492.3(NF1):c.7931dup (p.Glu2645fs)
|
rs878853918
|
|
|
NM_001042492.3(NF1):c.7934_7935insC (p.Glu2645fs)
|
|
|
|
NM_001042492.3(NF1):c.7939del (p.Ser2647fs)
|
|
|
|
NM_001042492.3(NF1):c.7947_7948del (p.Phe2650fs)
|
rs2070298589
|
|
|
NM_001042492.3(NF1):c.7948_7958del (p.Phe2650fs)
|
rs2151583407
|
|
|
NM_001042492.3(NF1):c.7950del (p.Val2653fs)
|
rs2070298779
|
|
|
NM_001042492.3(NF1):c.7955_7956del (p.Lys2652fs)
|
rs1555536765
|
|
|
NM_001042492.3(NF1):c.7956del (p.Val2653fs)
|
|
|
|
NM_001042492.3(NF1):c.7956dup (p.Val2653fs)
|
rs1555536765
|
|
|
NM_001042492.3(NF1):c.7959del (p.Pro2655fs)
|
rs1597866998
|
|
|
NM_001042492.3(NF1):c.7960_7963del (p.Phe2654fs)
|
|
|
|
NM_001042492.3(NF1):c.7962del (p.Pro2655fs)
|
|
|
|
NM_001042492.3(NF1):c.7962dup (p.Pro2655fs)
|
rs2151583446
|
|
|
NM_001042492.3(NF1):c.7964del (p.Pro2655fs)
|
rs1567627268
|
|
|
NM_001042492.3(NF1):c.7969_7970+2del
|
|
|
|
NM_001042492.3(NF1):c.7970+149_8160+723dup
|
|
|
|
NM_001042492.3(NF1):c.7970+1G>A
|
rs1555536773
|
|
|
NM_001042492.3(NF1):c.7970+3A>C
|
|
|
|
NM_001042492.3(NF1):c.7971-1G>A
|
rs1417908560
|
|
|
NM_001042492.3(NF1):c.7971-1G>C
|
|
|
|
NM_001042492.3(NF1):c.7971-2A>G
|
rs779079091
|
|
|
NM_001042492.3(NF1):c.7971-2del
|
rs2151584780
|
|
|
NM_001042492.3(NF1):c.7971-321C>G
|
rs2070316606
|
|
|
NM_001042492.3(NF1):c.7979del (p.Leu2660fs)
|
rs2151584799
|
|
|
NM_001042492.3(NF1):c.7982T>A (p.Leu2661Ter)
|
rs1567627709
|
|
|
NM_001042492.3(NF1):c.7989_7990insTT (p.Lys2664fs)
|
rs1555536882
|
|
|
NM_001042492.3(NF1):c.7989dup (p.Lys2664Ter)
|
rs1555536882
|
|
|
NM_001042492.3(NF1):c.7991del (p.Lys2664fs)
|
|
|
|
NM_001042492.3(NF1):c.79C>T (p.Gln27Ter)
|
rs1060500363
|
|
|
NM_001042492.3(NF1):c.79del (p.Gln27fs)
|
|
|
|
NM_001042492.3(NF1):c.8002_8003del (p.Leu2668fs)
|
rs2070326034
|
|
|
NM_001042492.3(NF1):c.8002del (p.Leu2668fs)
|
|
|
|
NM_001042492.3(NF1):c.8006dup (p.Leu2669fs)
|
|
|
|
NM_001042492.3(NF1):c.8009C>A (p.Ser2670Ter)
|
rs1131691074
|
|
|
NM_001042492.3(NF1):c.800G>A (p.Trp267Ter)
|
|
|
|
NM_001042492.3(NF1):c.8016C>A (p.Cys2672Ter)
|
|
|
|
NM_001042492.3(NF1):c.8017C>T (p.Gln2673Ter)
|
rs1567627751
|
|
|
NM_001042492.3(NF1):c.801G>A (p.Trp267Ter)
|
rs1064794273
|
|
|
NM_001042492.3(NF1):c.8027del (p.Asn2676fs)
|
|
|
|
NM_001042492.3(NF1):c.8030T>A (p.Leu2677Ter)
|
|
|
|
NM_001042492.3(NF1):c.8030del (p.Leu2677fs)
|
rs772757623
|
|
|
NM_001042492.3(NF1):c.8033del (p.Leu2677_Leu2678insTer)
|
rs1567627755
|
|
|
NM_001042492.3(NF1):c.8034_8037del (p.Leu2678fs)
|
|
|
|
NM_001042492.3(NF1):c.8041_8042del (p.Ile2681fs)
|
|
|
|
NM_001042492.3(NF1):c.8044del (p.His2682fs)
|
|
|
|
NM_001042492.3(NF1):c.804del (p.Leu269fs)
|
|
|
|
NM_001042492.3(NF1):c.8054_8055del (p.Val2685fs)
|
rs1597868171
|
|
|
NM_001042492.3(NF1):c.8056C>T (p.Gln2686Ter)
|
rs2151585015
|
|
|
NM_001042492.3(NF1):c.8059_8060del (p.Ser2687fs)
|
rs1060500387
|
|
|
NM_001042492.3(NF1):c.8066del (p.Val2689fs)
|
rs1555536923
|
|
|
NM_001042492.3(NF1):c.8070C>G (p.Tyr2690Ter)
|
|
|
|
NM_001042492.3(NF1):c.8071dup (p.His2691fs)
|
rs2151585069
|
|
|
NM_001042492.3(NF1):c.8073_8080del (p.Glu2692fs)
|
rs2151585076
|
|
|
NM_001042492.3(NF1):c.8074G>T (p.Glu2692Ter)
|
rs2070327932
|
|
|
NM_001042492.3(NF1):c.8074del (p.Glu2692fs)
|
rs2070327979
|
|
|
NM_001042492.3(NF1):c.8084_8089delinsA (p.Pro2695fs)
|
rs1597868244
|
|
|
NM_001042492.3(NF1):c.8084del (p.Pro2695fs)
|
rs1555536928
|
|
|
NM_001042492.3(NF1):c.8085del (p.Pro2696fs)
|
|
|
|
NM_001042492.3(NF1):c.8089C>T (p.Gln2697Ter)
|
rs2151585114
|
|
|
NM_001042492.3(NF1):c.808C>T (p.Gln270Ter)
|
rs1555608970
|
|
|
NM_001042492.3(NF1):c.8094C>A (p.Tyr2698Ter)
|
rs1597868268
|
|
|
NM_001042492.3(NF1):c.8095C>T (p.Gln2699Ter)
|
rs786203443
|
|
|
NM_001042492.3(NF1):c.8099_8100insTA (p.Ser2701fs)
|
|
|
|
NM_001042492.3(NF1):c.8099del (p.Thr2700fs)
|
|
|
|
NM_001042492.3(NF1):c.8105dup (p.Tyr2702Ter)
|
rs267606601
|
|
|
NM_001042492.3(NF1):c.810_811dup (p.Ile271fs)
|
rs2143785938
|
|
|
NM_001042492.3(NF1):c.8112_8113del (p.Ser2705fs)
|
rs1555536947
|
|
|
NM_001042492.3(NF1):c.8113+2T>G
|
rs1597868312
|
|
|
NM_001042492.3(NF1):c.8114-1G>A
|
rs1597868727
|
|
|
NM_001042492.3(NF1):c.8118del (p.Phe2706fs)
|
|
|
|
NM_001042492.3(NF1):c.8124dup (p.Asn2709Ter)
|
rs2070339252
|
|
|
NM_001042492.3(NF1):c.8129del (p.Gly2710fs)
|
|
|
|
NM_001042492.3(NF1):c.8135G>A (p.Trp2712Ter)
|
|
|
|
NM_001042492.3(NF1):c.8136G>A (p.Trp2712Ter)
|
|
|
|
NM_001042492.3(NF1):c.8139_8143del (p.Phe2714fs)
|
|
|
|
NM_001042492.3(NF1):c.8142dup (p.Ala2715fs)
|
rs2070340004
|
|
|
NM_001042492.3(NF1):c.8155del (p.Ser2719fs)
|
rs2151586074
|
|
|
NM_001042492.3(NF1):c.8156del (p.Phe2718_Ser2719insTer)
|
|
|
|
NM_001042492.3(NF1):c.8158A>T (p.Lys2720Ter)
|
rs1597868832
|
|
|
NM_001042492.3(NF1):c.8161-1G>A
|
rs2070372934
|
|
|
NM_001042492.3(NF1):c.8161-2A>G
|
|
|
|
NM_001042492.3(NF1):c.8161-2A>T
|
rs1344104003
|
|
|
NM_001042492.3(NF1):c.8161-3C>G
|
rs786203684
|
|
|
NM_001042492.3(NF1):c.8170del (p.Ile2724fs)
|
rs2151587629
|
|
|
NM_001042492.3(NF1):c.8172_8179dup (p.Tyr2727fs)
|
rs2151587645
|
|
|
NM_001042492.3(NF1):c.818del (p.Leu273fs)
|
rs2143786053
|
|
|
NM_001042492.3(NF1):c.819_821del (p.Leu274del)
|
rs2143786045
|
|
|
NM_001042492.3(NF1):c.8202dup (p.Leu2735fs)
|
rs2151587760
|
|
|
NM_001042492.3(NF1):c.8203del (p.Asp2736fs)
|
rs2070373881
|
|
|
NM_001042492.3(NF1):c.8205_8214del (p.Asp2736fs)
|
rs1597870141
|
|
|
NM_001042492.3(NF1):c.820_822del (p.Leu274del)
|
|
|
|
NM_001042492.3(NF1):c.820_823dup (p.Ile275fs)
|
rs2066157933
|
|
|
NM_001042492.3(NF1):c.823_827del (p.Ile275fs)
|
rs2143786096
|
|
|
NM_001042492.3(NF1):c.827T>A (p.Leu276Ter)
|
rs2066158230
|
|
|
NM_001042492.3(NF1):c.827del (p.Leu276fs)
|
rs2143786188
|
|
|
NM_001042492.3(NF1):c.8295_8296del (p.Leu2766fs)
|
rs2070375859
|
|
|
NM_001042492.3(NF1):c.82C>T (p.Gln28Ter)
|
rs771764281
|
|
|
NM_001042492.3(NF1):c.831T>A (p.Cys277Ter)
|
|
|
|
NM_001042492.3(NF1):c.838del (p.Glu279_Ile280insTer)
|
rs2066158359
|
|
|
NM_001042492.3(NF1):c.839_878dup (p.Asn293_Met294insAsnProGlyTyrIleGlnArgArgGlyTer)
|
|
|
|
NM_001042492.3(NF1):c.843_844delinsTT (p.Gln282Ter)
|
rs2143786391
|
|
|
NM_001042492.3(NF1):c.844C>T (p.Gln282Ter)
|
rs753054046
|
|
|
NM_001042492.3(NF1):c.847_854del (p.Asp283fs)
|
rs2066158802
|
|
|
NM_001042492.3(NF1):c.848del (p.Asp283fs)
|
|
|
|
NM_001042492.3(NF1):c.84del (p.Asn29fs)
|
rs1555604877
|
|
|
NM_001042492.3(NF1):c.851_854dup (p.Lys286fs)
|
rs2066158952
|
|
|
NM_001042492.3(NF1):c.852_853del (p.Ser285fs)
|
|
|
|
NM_001042492.3(NF1):c.852_853dup (p.Ser285fs)
|
|
|
|
NM_001042492.3(NF1):c.855del (p.Asp287fs)
|
rs2143786639
|
|
|
NM_001042492.3(NF1):c.859del (p.Asp287fs)
|
|
|
|
NM_001042492.3(NF1):c.863del (p.Val288fs)
|
|
|
|
NM_001042492.3(NF1):c.871G>T (p.Glu291Ter)
|
rs2143786875
|
|
|
NM_001042492.3(NF1):c.875del (p.Asn292fs)
|
rs1597660090
|
|
|
NM_001042492.3(NF1):c.878del (p.Asn293fs)
|
rs2066159719
|
|
|
NM_001042492.3(NF1):c.882_885del (p.Met294fs)
|
rs1567826819
|
|
|
NM_001042492.3(NF1):c.886A>T (p.Lys296Ter)
|
rs1135402798
|
|
|
NM_001042492.3(NF1):c.888+1G>A
|
rs1135402799
|
|
|
NM_001042492.3(NF1):c.888+1G>C
|
rs1135402799
|
|
|
NM_001042492.3(NF1):c.888+1G>T
|
rs1135402799
|
|
|
NM_001042492.3(NF1):c.888+2T>A
|
rs2066160116
|
|
|
NM_001042492.3(NF1):c.888+2T>C
|
rs2066160116
|
|
|
NM_001042492.3(NF1):c.888+2T>G
|
rs2066160116
|
|
|
NM_001042492.3(NF1):c.888+789A>G
|
rs1597660974
|
|
|
NM_001042492.3(NF1):c.889-1G>A
|
rs587781517
|
|
|
NM_001042492.3(NF1):c.889-1G>C
|
rs587781517
|
|
|
NM_001042492.3(NF1):c.889-1G>T
|
rs587781517
|
|
|
NM_001042492.3(NF1):c.889-1del
|
|
|
|
NM_001042492.3(NF1):c.889-21C>A
|
rs753797445
|
|
|
NM_001042492.3(NF1):c.889-2A>G
|
rs878853922
|
|
|
NM_001042492.3(NF1):c.889-2A>T
|
rs878853922
|
|
|
NM_001042492.3(NF1):c.889-2del
|
rs1567834983
|
|
|
NM_001042492.3(NF1):c.889-453_908del
|
rs1555610774
|
|
|
NM_001042492.3(NF1):c.889-6_893del
|
rs2066505220
|
|
|
NM_001042492.3(NF1):c.889-894_1261-284del
|
|
|
|
NM_001042492.3(NF1):c.889A>T (p.Lys297Ter)
|
rs786202384
|
|
|
NM_001042492.3(NF1):c.88del (p.Thr30fs)
|
rs2143625553
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|
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NM_001042492.3(NF1):c.894del (p.Leu298fs)
|
rs2143872026
|
|
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NM_001042492.3(NF1):c.900_908del (p.Asp301_Leu303del)
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NM_001042492.3(NF1):c.903_913del (p.Asp301fs)
|
rs2066505751
|
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NM_001042492.3(NF1):c.907_908del (p.Leu303fs)
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|
|
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NM_001042492.3(NF1):c.908T>C (p.Leu303Pro)
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NM_001042492.3(NF1):c.908T>G (p.Leu303Arg)
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|
|
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NM_001042492.3(NF1):c.908del (p.Leu303fs)
|
rs1555610848
|
|
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NM_001042492.3(NF1):c.909_910delinsTT (p.Arg304Ter)
|
rs1555610854
|
|
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NM_001042492.3(NF1):c.910C>T (p.Arg304Ter)
|
rs786203950
|
|
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NM_001042492.3(NF1):c.910del (p.Arg304fs)
|
|
|
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NM_001042492.3(NF1):c.915dup (p.Ala306fs)
|
|
|
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NM_001042492.3(NF1):c.916del (p.Ala306fs)
|
rs2143872349
|
|
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NM_001042492.3(NF1):c.91_92del (p.His31fs)
|
rs1567814432
|
|
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NM_001042492.3(NF1):c.91_92dup (p.Thr32fs)
|
rs1567814432
|
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NM_001042492.3(NF1):c.91del (p.His31fs)
|
|
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NM_001042492.3(NF1):c.921_924dup (p.Gly309fs)
|
|
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NM_001042492.3(NF1):c.921del (p.Ala308fs)
|
|
|
|
NM_001042492.3(NF1):c.924_927del (p.Gly309fs)
|
rs1060500301
|
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NM_001042492.3(NF1):c.926del (p.Gly309fs)
|
rs1597680816
|
|
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NM_001042492.3(NF1):c.933_934dup (p.Gly312fs)
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|
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NM_001042492.3(NF1):c.935del (p.Gly312fs)
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|
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NM_001042492.3(NF1):c.937_938dup (p.Ser313fs)
|
|
|
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NM_001042492.3(NF1):c.937del (p.Ser313fs)
|
rs2143872679
|
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NM_001042492.3(NF1):c.93_94insTA (p.Thr32Ter)
|
|
|
|
NM_001042492.3(NF1):c.93dup (p.Thr32fs)
|
rs1597625887
|
|
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NM_001042492.3(NF1):c.942_943delinsTT (p.Arg314_Gln315delinsSerTer)
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NM_001042492.3(NF1):c.943C>T (p.Gln315Ter)
|
rs766011053
|
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NM_001042492.3(NF1):c.944_945insTGCC (p.Gln315fs)
|
rs2066506904
|
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NM_001042492.3(NF1):c.944del (p.Gln315fs)
|
|
|
|
NM_001042492.3(NF1):c.945_946delinsAA (p.Leu316Met)
|
rs267606609
|
|
|
NM_001042492.3(NF1):c.94dup (p.Thr32fs)
|
rs2143625661
|
|
|
NM_001042492.3(NF1):c.950_953dup (p.Glu318fs)
|
rs1555610879
|
|
|
NM_001042492.3(NF1):c.952G>T (p.Glu318Ter)
|
|
|
|
NM_001042492.3(NF1):c.952_953del (p.Glu318fs)
|
rs2066507116
|
|
|
NM_001042492.3(NF1):c.952del (p.Glu318fs)
|
rs1555610881
|
|
|
NM_001042492.3(NF1):c.953_956del (p.Glu318fs)
|
|
|
|
NM_001042492.3(NF1):c.955del (p.Ser319fs)
|
rs876660931
|
|
|
NM_001042492.3(NF1):c.955dup (p.Ser319fs)
|
rs876660931
|
|
|
NM_001042492.3(NF1):c.959del (p.Ala320fs)
|
|
|
|
NM_001042492.3(NF1):c.964del (p.Ile322fs)
|
rs1597680909
|
|
|
NM_001042492.3(NF1):c.966del (p.Ile322fs)
|
|
|
|
NM_001042492.3(NF1):c.967dup (p.Ala323fs)
|
rs2143873095
|
|
|
NM_001042492.3(NF1):c.968C>A (p.Ala323Asp)
|
rs2066507556
|
|
|
NM_001042492.3(NF1):c.972T>A (p.Cys324Ter)
|
rs1597680938
|
|
|
NM_001042492.3(NF1):c.974del (p.Val325fs)
|
rs2143873205
|
|
|
NM_001042492.3(NF1):c.978dup (p.Leu327fs)
|
rs2066507887
|
|
|
NM_001042492.3(NF1):c.979_997del (p.Leu327fs)
|
rs1597680978
|
|
|
NM_001042492.3(NF1):c.97A>T (p.Lys33Ter)
|
rs1060500324
|
|
|
NM_001042492.3(NF1):c.980T>C (p.Leu327Pro)
|
rs201624827
|
|
|
NM_001042492.3(NF1):c.980T>G (p.Leu327Arg)
|
rs201624827
|
|
|
NM_001042492.3(NF1):c.980del (p.Leu327fs)
|
|
|
|
NM_001042492.3(NF1):c.983_984del (p.Leu327_Cys328insTer)
|
rs1555610893
|
|
|
NM_001042492.3(NF1):c.984T>A (p.Cys328Ter)
|
|
|
|
NM_001042492.3(NF1):c.984del (p.Leu327_Cys328insTer)
|
|
|
|
NM_001042492.3(NF1):c.987A>G (p.Lys329=)
|
rs2066508210
|
|
|
NM_001042492.3(NF1):c.987del (p.Ala330fs)
|
rs2143873403
|
|
|
NM_001042492.3(NF1):c.988G>C (p.Ala330Pro)
|
rs199474767
|
|
|
NM_001042492.3(NF1):c.988_995del (p.Ala330fs)
|
rs1567835161
|
|
|
NM_001042492.3(NF1):c.989C>T (p.Ala330Val)
|
rs1555610898
|
|
|
NM_001042492.3(NF1):c.98_99del (p.Lys33fs)
|
|
|
|
NM_001042492.3(NF1):c.992_1016del (p.Ser331fs)
|
|
|
|
NM_001042492.3(NF1):c.996_999del (p.Tyr333fs)
|
rs1555610900
|
|
|
NM_001042492.3(NF1):c.997del (p.Tyr333fs)
|
rs1567835183
|
|
|
NM_001042492.3(NF1):c.997dup (p.Tyr333fs)
|
rs1567835183
|
|
|
NM_001042492.3(NF1):c.998dup (p.Tyr333Ter)
|
rs2066508538
|
|
|
NM_001042492.3(NF1):c.999C>A (p.Tyr333Ter)
|
rs1466912192
|
|
|
NM_001042492.3(NF1):c.999C>G (p.Tyr333Ter)
|
rs1466912192
|
|
|
NM_001042492.3(NF1):c.999del (p.Thr332_Tyr333insTer)
|
rs2143873634
|
|
|
NM_001042492.3(NF1):c.99A>G (p.Lys33=)
|
rs786203280
|
|
|
NM_001042492.3(NF1):c.99del (p.Val34fs)
|
rs1060500320
|
|
|
Single allele
|
|
|