|
NM_002834.5(PTPN11):c.598A>T (p.Asn200Tyr)
|
rs727503381
|
0.00003
|
|
NM_002834.5(PTPN11):c.781C>T (p.Leu261Phe)
|
rs397507525
|
0.00003
|
|
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln)
|
rs376607329
|
0.00003
|
|
NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu)
|
rs137854550
|
0.00002
|
|
NM_005188.4(CBL):c.1259G>A (p.Arg420Gln)
|
rs267606708
|
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.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.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.574C>T (p.Arg192Ter)
|
rs397514641
|
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
|
|
NM_002524.5(NRAS):c.179G>A (p.Gly60Glu)
|
rs267606920
|
0.00001
|
|
NM_002524.5(NRAS):c.35G>A (p.Gly12Asp)
|
rs121913237
|
0.00001
|
|
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met)
|
rs121918457
|
0.00001
|
|
NM_002834.5(PTPN11):c.1492C>T (p.Arg498Trp)
|
rs397507541
|
0.00001
|
|
NM_002834.5(PTPN11):c.1508G>A (p.Gly503Glu)
|
rs397507546
|
0.00001
|
|
NM_002834.5(PTPN11):c.166A>G (p.Ile56Val)
|
rs397507504
|
0.00001
|
|
NM_002834.5(PTPN11):c.175A>G (p.Thr59Ala)
|
rs886043790
|
0.00001
|
|
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys)
|
rs121918459
|
0.00001
|
|
NM_002834.5(PTPN11):c.844A>G (p.Ile282Val)
|
rs397507529
|
0.00001
|
|
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp)
|
rs28933386
|
0.00001
|
|
NM_004985.5(KRAS):c.34G>A (p.Gly12Ser)
|
rs121913530
|
0.00001
|
|
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp)
|
rs121913529
|
0.00001
|
|
NM_004985.5(KRAS):c.38G>A (p.Gly13Asp)
|
rs112445441
|
0.00001
|
|
NM_004985.5(KRAS):c.437C>T (p.Ala146Val)
|
rs1057519725
|
0.00001
|
|
NM_004985.5(KRAS):c.57G>C (p.Leu19Phe)
|
rs121913538
|
0.00001
|
|
NM_005188.4(CBL):c.1096-1G>T
|
rs397517076
|
0.00001
|
|
NM_005188.4(CBL):c.1111T>C (p.Tyr371His)
|
rs267606706
|
0.00001
|
|
NM_005188.4(CBL):c.1139T>C (p.Leu380Pro)
|
rs1377506801
|
0.00001
|
|
NM_006912.6(RIT1):c.104G>C (p.Ser35Thr)
|
rs869025189
|
0.00001
|
|
NM_006912.6(RIT1):c.251C>T (p.Ala84Val)
|
rs869025196
|
0.00001
|
|
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly)
|
rs267607048
|
0.00001
|
|
NM_152594.3(SPRED1):c.304dup (p.Thr102fs)
|
rs1555391053
|
0.00001
|
|
NM_152594.3(SPRED1):c.46C>T (p.Arg16Ter)
|
rs1057517941
|
0.00001
|
|
NM_152594.3(SPRED1):c.70C>T (p.Arg24Ter)
|
rs121434313
|
0.00001
|
|
NM_152594.3(SPRED1):c.751C>T (p.Arg251Ter)
|
rs1172820756
|
0.00001
|
|
NC_000002.11:g.(?_37334416)_(39347563_?)dup
|
|
|
|
NC_000012.11:g.(?_112909300)_(112915437_?)del
|
|
|
|
NC_000012.11:g.(?_112910728)_(112910864_?)del
|
|
|
|
NC_000012.11:g.(?_112915449)_(112915825_?)del
|
|
|
|
NC_000015.10:g.(?_38253166)_(39021201_?)del
|
|
|
|
NC_000015.10:g.(?_38253180)_(38351670_?)del
|
|
|
|
NC_000015.10:g.(?_38253186)_(38253227_?)del
|
|
|
|
NC_000015.10:g.(?_38299363)_(38324819_?)del
|
|
|
|
NC_000015.10:g.(?_38299373)_(38357249_?)del
|
|
|
|
NC_000015.9:g.(?_38545367)_(38545438_?)del
|
|
|
|
NC_000015.9:g.(?_38545387)_(38545438_?)del
|
|
|
|
NC_000015.9:g.(?_38545387)_(38643865_?)del
|
|
|
|
NC_000015.9:g.(?_38591568)_(38643870_?)del
|
|
|
|
NC_000015.9:g.(?_38614422)_(38617030_?)del
|
|
|
|
NC_000017.10:g.(?_27573882)_(29576157_?)del
|
|
|
|
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.(?_29422055)_(29662069_?)del
|
|
|
|
NC_000017.10:g.(?_29422055)_(29701173_?)del
|
|
|
|
NC_000017.10:g.(?_29422308)_(29497035_?)del
|
|
|
|
NC_000017.10:g.(?_29422308)_(29701193_?)del
|
|
|
|
NC_000017.10:g.(?_29422314)_(29548957_?)del
|
|
|
|
NC_000017.10:g.(?_29422322)_(29664606_?)del
|
|
|
|
NC_000017.10:g.(?_29422322)_(29665163_?)del
|
|
|
|
NC_000017.10:g.(?_29422322)_(29701178_?)del
|
|
|
|
NC_000017.10:g.(?_29422328)_(29677356_?)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.(?_29496899)_(29701173_?)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.(?_29527420)_(29701173_?)del
|
|
|
|
NC_000017.10:g.(?_29527428)_(29530107_?)del
|
|
|
|
NC_000017.10:g.(?_29527428)_(29592367_?)del
|
|
|
|
NC_000017.10:g.(?_29527428)_(29657848_?)del
|
|
|
|
NC_000017.10:g.(?_29527488)_(29703830_?)del
|
|
|
|
NC_000017.10:g.(?_29528423)_(29528509_?)del
|
|
|
|
NC_000017.10:g.(?_29528523)_(29563921_?)del
|
|
|
|
NC_000017.10:g.(?_29541449)_(29701173_?)del
|
|
|
|
NC_000017.10:g.(?_29541459)_(29624377_?)del
|
|
|
|
NC_000017.10:g.(?_29546003)_(29576157_?)del
|
|
|
|
NC_000017.10:g.(?_29546003)_(29701173_?)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.(?_29556833)_(29701173_?)del
|
|
|
|
NC_000017.10:g.(?_29557258)_(29563059_?)del
|
|
|
|
NC_000017.10:g.(?_29559081)_(29701173_?)del
|
|
|
|
NC_000017.10:g.(?_29559879)_(29685283_?)del
|
|
|
|
NC_000017.10:g.(?_29562619)_(29563299_?)del
|
|
|
|
NC_000017.10:g.(?_29562619)_(29701173_?)del
|
|
|
|
NC_000017.10:g.(?_29575982)_(29665843_?)del
|
|
|
|
NC_000017.10:g.(?_29585342)_(29665843_?)del
|
|
|
|
NC_000017.10:g.(?_29585352)_(29585530_?)del
|
|
|
|
NC_000017.10:g.(?_29585352)_(29592367_?)del
|
|
|
|
NC_000017.10:g.(?_29585352)_(29670163_?)del
|
|
|
|
NC_000017.10:g.(?_29586040)_(29701173_?)del
|
|
|
|
NC_000017.10:g.(?_29587367)_(29592377_?)dup
|
|
|
|
NC_000017.10:g.(?_29587381)_(29662055_?)del
|
|
|
|
NC_000017.10:g.(?_29587625)_(29669475_?)del
|
|
|
|
NC_000017.10:g.(?_29588709)_(29701193_?)del
|
|
|
|
NC_000017.10:g.(?_29588715)_(29592367_?)del
|
|
|
|
NC_000017.10:g.(?_29592237)_(29592367_?)del
|
|
|
|
NC_000017.10:g.(?_29592237)_(29653280_?)del
|
|
|
|
NC_000017.10:g.(?_29592237)_(29701173_?)del
|
|
|
|
NC_000017.10:g.(?_29622027)_(29654877_?)del
|
|
|
|
NC_000017.10:g.(?_29622128)_(29667673_?)del
|
|
|
|
NC_000017.10:g.(?_29645324)_(29679452_?)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:g.(?_31093927)_(31378677_?)del
|
|
|
|
NC_000017.11:g.(?_31094927)_(31095369_?)del
|
|
|
|
NC_000017.11:g.(?_31094927)_(31182665_?)del
|
|
|
|
NC_000017.11:g.(?_31095030)_(31095379_?)del
|
|
|
|
NC_000017.11:g.(?_31095030)_(31170007_?)del
|
|
|
|
NC_000017.11:g.(?_31095030)_(31374155_?)del
|
|
|
|
NC_000017.11:g.(?_31095290)_(31095389_?)del
|
|
|
|
NC_000017.11:g.(?_31095290)_(31183409_?)del
|
|
|
|
NC_000017.11:g.(?_31095300)_(31095379_?)del
|
|
|
|
NC_000017.11:g.(?_31095300)_(31374165_?)del
|
|
|
|
NC_000017.11:g.(?_31095304)_(31156132_?)del
|
|
|
|
NC_000017.11:g.(?_31095304)_(31374161_?)del
|
|
|
|
NC_000017.11:g.(?_31155963)_(31374175_?)del
|
|
|
|
NC_000017.11:g.(?_31155973)_(31156136_?)del
|
|
|
|
NC_000017.11:g.(?_31155973)_(31265349_?)dup
|
|
|
|
NC_000017.11:g.(?_31155973)_(31297359_?)dup
|
|
|
|
NC_000017.11:g.(?_31155977)_(31163382_?)del
|
|
|
|
NC_000017.11:g.(?_31155977)_(31374161_?)del
|
|
|
|
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.(?_31169871)_(31343155_?)del
|
|
|
|
NC_000017.11:g.(?_31169881)_(31183454_?)del
|
|
|
|
NC_000017.11:g.(?_31169881)_(31374165_?)del
|
|
|
|
NC_000017.11:g.(?_31179106)_(31357039_?)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.(?_31203089)_(31352424_?)del
|
|
|
|
NC_000017.11:g.(?_31206230)_(31374165_?)del
|
|
|
|
NC_000017.11:g.(?_31218985)_(31222471_?)del
|
|
|
|
NC_000017.11:g.(?_31218985)_(31374175_?)del
|
|
|
|
NC_000017.11:g.(?_31218995)_(31374165_?)del
|
|
|
|
NC_000017.11:g.(?_31225075)_(31236281_?)del
|
|
|
|
NC_000017.11:g.(?_31225075)_(31360723_?)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.(?_31248974)_(31374165_?)del
|
|
|
|
NC_000017.11:g.(?_31261711)_(31340645_?)del
|
|
|
|
NC_000017.11:g.(?_31325800)_(31360723_?)del
|
|
|
|
NC_000017.11:g.(?_31325800)_(31374175_?)del
|
|
|
|
NC_000017.11:g.(?_31325810)_(31374165_?)del
|
|
|
|
NC_000017.11:g.(?_31325814)_(31338145_?)del
|
|
|
|
NC_000017.11:g.(?_31325814)_(31374161_?)del
|
|
|
|
NC_000017.11:g.(?_31327479)_(31327859_?)del
|
|
|
|
NC_000017.11:g.(?_31327499)_(31327839_?)del
|
|
|
|
NC_000017.11:g.(?_31334559)_(31359035_?)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
|
|
|
|
NM_000267.3(NF1):c.-383_*3522del
|
|
|
|
NM_000267.3(NF1):c.129_130ins568 (p.?)
|
|
|
|
NM_000267.3(NF1):c.1393_1394delAG
|
rs1597698310
|
|
|
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.3497delG
|
rs1567851231
|
|
|
NM_000267.3(NF1):c.4368-?_5943+?del
|
|
|
|
NM_000267.3(NF1):c.4516del
|
rs2067689357
|
|
|
NM_000267.3(NF1):c.480delG
|
rs1597643722
|
|
|
NM_000267.3(NF1):c.5206delG
|
rs1555533549
|
|
|
NM_000267.3(NF1):c.6085del
|
|
|
|
NM_000267.3(NF1):c.6791dup (p.Tyr2264Ter)
|
rs876657715
|
|
|
NM_000267.3(NF1):c.7128delG
|
rs1597858338
|
|
|
NM_000267.3:c.1491_4110+4407del
|
|
|
|
NM_001042492.3(NF1):c.-272G>C
|
rs1911510393
|
|
|
NM_001042492.3(NF1):c.-273A>G
|
rs2143139374
|
|
|
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.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.1020dup (p.Val341fs)
|
rs1555610905
|
|
|
NM_001042492.3(NF1):c.1021_1022del (p.Val341fs)
|
rs2066509100
|
|
|
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.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.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+3A>G
|
rs1057521098
|
|
|
NM_001042492.3(NF1):c.1062G>A (p.Lys354=)
|
rs1131691118
|
|
|
NM_001042492.3(NF1):c.1063-13G>A
|
rs1131691066
|
|
|
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.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.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.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.10del (p.His4fs)
|
|
|
|
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.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.1130_1133del (p.Ile377fs)
|
rs2143879547
|
|
|
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.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.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.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>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.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.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.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.1261-165_1302del
|
|
|
|
NM_001042492.3(NF1):c.1261-1G>C
|
|
|
|
NM_001042492.3(NF1):c.1261-1G>T
|
rs2066618707
|
|
|
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.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.1309del (p.Val437fs)
|
|
|
|
NM_001042492.3(NF1):c.1316T>C (p.Leu439Pro)
|
rs2143914353
|
|
|
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.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.1362T>A (p.Cys454Ter)
|
rs2066621671
|
|
|
NM_001042492.3(NF1):c.1362_1364del (p.Cys454_Gly455delinsTer)
|
rs2143915068
|
|
|
NM_001042492.3(NF1):c.1373del (p.Pro458fs)
|
rs2143915236
|
|
|
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.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.1393-2A>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.1408G>T (p.Glu470Ter)
|
rs1597698330
|
|
|
NM_001042492.3(NF1):c.1415dup (p.Thr473fs)
|
|
|
|
NM_001042492.3(NF1):c.1422_1423dup (p.Leu475fs)
|
|
|
|
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.1439_1442del (p.Lys480fs)
|
rs2143959220
|
|
|
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.1465dup (p.Tyr489fs)
|
rs2143959602
|
|
|
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.1469del (p.Lys490fs)
|
|
|
|
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.1481T>A (p.Leu494Ter)
|
rs2143959905
|
|
|
NM_001042492.3(NF1):c.1481del (p.Leu494fs)
|
|
|
|
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+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.1530dup (p.Pro511fs)
|
|
|
|
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.1545del (p.Glu517fs)
|
|
|
|
NM_001042492.3(NF1):c.1549G>T (p.Glu517Ter)
|
rs587778548
|
|
|
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.1562_1563del (p.Ser521fs)
|
rs2143986114
|
|
|
NM_001042492.3(NF1):c.1564dup (p.Thr522fs)
|
rs2066874810
|
|
|
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.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.15del (p.Arg5fs)
|
rs1057516197
|
|
|
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>G (p.Ser536Ter)
|
rs1555612859
|
|
|
NM_001042492.3(NF1):c.1611_1612del (p.Met538fs)
|
rs2066876556
|
|
|
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.1632del (p.Ala545fs)
|
|
|
|
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>T
|
|
|
|
NM_001042492.3(NF1):c.1641+2T>C
|
rs1555612867
|
|
|
NM_001042492.3(NF1):c.1642-1G>A
|
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.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.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.1671_1683del (p.Ser557fs)
|
rs2144004136
|
|
|
NM_001042492.3(NF1):c.1671del (p.Ser557fs)
|
rs2066928367
|
|
|
NM_001042492.3(NF1):c.1679T>A (p.Leu560Ter)
|
|
|
|
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.1683G>A (p.Trp561Ter)
|
rs1135402820
|
|
|
NM_001042492.3(NF1):c.1691_1692del (p.Asp564fs)
|
rs2066928784
|
|
|
NM_001042492.3(NF1):c.1693dup (p.Ala565fs)
|
|
|
|
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.1719del (p.Ser574fs)
|
|
|
|
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.1722-2A>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.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.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.1761del (p.His588fs)
|
|
|
|
NM_001042492.3(NF1):c.1765C>T (p.Gln589Ter)
|
rs1282299543
|
|
|
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.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.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.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.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.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.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.1882dup (p.Tyr628fs)
|
rs1555613558
|
|
|
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.1888del (p.Gly629_Val630insTer)
|
rs1567846670
|
|
|
NM_001042492.3(NF1):c.188del (p.Lys63fs)
|
rs1555604939
|
|
|
NM_001042492.3(NF1):c.1895del (p.Cys632fs)
|
rs1597710497
|
|
|
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.1920del (p.Ser641fs)
|
rs2144026762
|
|
|
NM_001042492.3(NF1):c.1924C>T (p.Gln642Ter)
|
rs2066991605
|
|
|
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.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.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.198dup (p.Asn67fs)
|
rs2143627611
|
|
|
NM_001042492.3(NF1):c.1995del (p.Ser666fs)
|
rs2066993840
|
|
|
NM_001042492.3(NF1):c.1996del (p.Ser666fs)
|
|
|
|
NM_001042492.3(NF1):c.19del (p.Val7fs)
|
|
|
|
NM_001042492.3(NF1):c.1A>G (p.Met1Val)
|
rs1060500252
|
|
|
NM_001042492.3(NF1):c.1A>T (p.Met1Leu)
|
rs1060500252
|
|
|
NM_001042492.3(NF1):c.2002-10T>A
|
|
|
|
NM_001042492.3(NF1):c.2002-1G>A
|
rs1555613743
|
|
|
NM_001042492.3(NF1):c.2002-2A>G
|
rs1555613741
|
|
|
NM_001042492.3(NF1):c.2002-3C>G
|
|
|
|
NM_001042492.3(NF1):c.2010dup (p.Ala671fs)
|
rs2151425531
|
|
|
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_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.2034del (p.Ile679fs)
|
rs1567847384
|
|
|
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.2049_2083del (p.Gln684fs)
|
rs2067016480
|
|
|
NM_001042492.3(NF1):c.205-1G>A
|
rs1555605362
|
|
|
NM_001042492.3(NF1):c.205-1G>C
|
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.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.2098dup (p.Thr700fs)
|
|
|
|
NM_001042492.3(NF1):c.20_23del (p.Val7fs)
|
rs2143144854
|
|
|
NM_001042492.3(NF1):c.2103del (p.Ala702fs)
|
|
|
|
NM_001042492.3(NF1):c.2106_2107insCA (p.Val703fs)
|
|
|
|
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.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.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.2161_2165dup (p.Asp724fs)
|
|
|
|
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.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.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.2246C>G (p.Ser749Ter)
|
rs778344080
|
|
|
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>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.2252-1G>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.2252-3T>G
|
rs1057518842
|
|
|
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.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.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.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.2332G>T (p.Glu778Ter)
|
rs749404479
|
|
|
NM_001042492.3(NF1):c.2336dup (p.Asp779fs)
|
|
|
|
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.233del (p.Asn78fs)
|
rs1438566555
|
|
|
NM_001042492.3(NF1):c.233dup (p.Asn78fs)
|
|
|
|
NM_001042492.3(NF1):c.2343del (p.His781fs)
|
rs2151427468
|
|
|
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.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>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.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.238dup (p.Tyr80fs)
|
|
|
|
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_242del (p.Tyr80fs)
|
rs2143645885
|
|
|
NM_001042492.3(NF1):c.23_24insTA (p.Glu8fs)
|
rs2143144912
|
|
|
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.240T>A (p.Tyr80Ter)
|
rs2143645944
|
|
|
NM_001042492.3(NF1):c.2410-12T>G
|
rs876657932
|
|
|
NM_001042492.3(NF1):c.2410-13A>G
|
rs1567848711
|
|
|
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.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.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.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.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.2492_2493del (p.Thr831fs)
|
|
|
|
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.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.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.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.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.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.2619dup (p.Lys874Ter)
|
rs1555614284
|
|
|
NM_001042492.3(NF1):c.2620A>T (p.Lys874Ter)
|
|
|
|
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.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.26G>A (p.Trp9Ter)
|
rs1567786829
|
|
|
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.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.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.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.27G>A (p.Trp9Ter)
|
rs2143144971
|
|
|
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.2816del (p.Asn939fs)
|
rs2151429750
|
|
|
NM_001042492.3(NF1):c.281T>G (p.Leu94Arg)
|
rs1597629884
|
|
|
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.2827_2828del (p.Lys943fs)
|
|
|
|
NM_001042492.3(NF1):c.2834_2835del (p.Phe944_Phe945insTer)
|
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.2848C>T (p.Gln950Ter)
|
rs1060500357
|
|
|
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.2851-1G>A
|
rs1597716274
|
|
|
NM_001042492.3(NF1):c.2851-1G>C
|
rs1597716274
|
|
|
NM_001042492.3(NF1):c.2851-2A>G
|
|
|
|
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.2856del (p.Leu952fs)
|
rs2151430476
|
|
|
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+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.289-1G>A
|
|
|
|
NM_001042492.3(NF1):c.289-2A>G
|
rs2143670119
|
|
|
NM_001042492.3(NF1):c.2890del (p.Thr964fs)
|
rs1555614437
|
|
|
NM_001042492.3(NF1):c.2899dup (p.Ile967fs)
|
rs2151430620
|
|
|
NM_001042492.3(NF1):c.289C>T (p.Gln97Ter)
|
rs1597635615
|
|
|
NM_001042492.3(NF1):c.28del (p.Val10fs)
|
|
|
|
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.2921dup (p.Asn974fs)
|
rs2151430666
|
|
|
NM_001042492.3(NF1):c.2929G>T (p.Glu977Ter)
|
rs2151430686
|
|
|
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.2953C>T (p.Gln985Ter)
|
rs1555614455
|
|
|
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>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.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.2T>A (p.Met1Lys)
|
rs886041346
|
|
|
NM_001042492.3(NF1):c.2T>C (p.Met1Thr)
|
rs886041346
|
|
|
NM_001042492.3(NF1):c.2T>G (p.Met1Arg)
|
rs886041346
|
|
|
NM_001042492.3(NF1):c.3006dup (p.Gly1003fs)
|
rs2151431501
|
|
|
NM_001042492.3(NF1):c.3016del (p.Val1006fs)
|
|
|
|
NM_001042492.3(NF1):c.3019del (p.His1007fs)
|
|
|
|
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.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>C (p.Met1035Thr)
|
rs137854553
|
|
|
NM_001042492.3(NF1):c.3104T>G (p.Met1035Arg)
|
rs137854553
|
|
|
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.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.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.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.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.3186del (p.Lys1062fs)
|
rs1597717672
|
|
|
NM_001042492.3(NF1):c.3186dup (p.Cys1063fs)
|
rs1597717672
|
|
|
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.31C>T (p.Gln11Ter)
|
rs876658658
|
|
|
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.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.3225dup (p.Val1076fs)
|
|
|
|
NM_001042492.3(NF1):c.3226_3236del (p.Val1076fs)
|
|
|
|
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>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.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.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.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>G
|
rs1555614914
|
|
|
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.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.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.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.3380dup (p.Gly1128fs)
|
rs2067135666
|
|
|
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.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.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.3424del (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.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.3449C>A (p.Ser1150Ter)
|
rs1555614972
|
|
|
NM_001042492.3(NF1):c.3449C>G (p.Ser1150Ter)
|
rs1555614972
|
|
|
NM_001042492.3(NF1):c.3455T>G (p.Leu1152Ter)
|
|
|
|
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.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.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.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.3538_3544del (p.Met1180fs)
|
rs2151435366
|
|
|
NM_001042492.3(NF1):c.3539T>G (p.Met1180Arg)
|
rs2067141977
|
|
|
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.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.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.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.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.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.3594_3595del (p.Glu1198fs)
|
|
|
|
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.3604del (p.Ala1202fs)
|
rs1597720036
|
|
|
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.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.3665del (p.Pro1222fs)
|
rs867391752
|
|
|
NM_001042492.3(NF1):c.3668T>G (p.Ile1223Arg)
|
rs1555615091
|
|
|
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.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.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.3728_3732del (p.Leu1243fs)
|
rs2151437742
|
|
|
NM_001042492.3(NF1):c.3732_3742del (p.Thr1245fs)
|
rs1597722429
|
|
|
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.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.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.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.3784del (p.Ser1262fs)
|
rs1567852567
|
|
|
NM_001042492.3(NF1):c.3786_3787insSVAelement
|
rs2067187668
|
|
|
NM_001042492.3(NF1):c.378del (p.Gly127fs)
|
|
|
|
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.3810_3820del (p.Met1271fs)
|
rs2067188114
|
|
|
NM_001042492.3(NF1):c.3814C>T (p.Gln1272Ter)
|
rs2067188361
|
|
|
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.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.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.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.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.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.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.389del (p.His130fs)
|
rs2143672296
|
|
|
NM_001042492.3(NF1):c.3906del (p.Pro1303fs)
|
|
|
|
NM_001042492.3(NF1):c.3908del (p.Pro1303fs)
|
|
|
|
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.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.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.3975-1G>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.3G>A (p.Met1Ile)
|
rs1598173737
|
|
|
NM_001042492.3(NF1):c.3G>T (p.Met1Ile)
|
|
|
|
NM_001042492.3(NF1):c.4000G>T (p.Glu1334Ter)
|
rs878853892
|
|
|
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.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.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.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.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.4100del (p.Cys1367fs)
|
|
|
|
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.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.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.4206dup (p.Gly1403fs)
|
rs2151461863
|
|
|
NM_001042492.3(NF1):c.4208_4220del (p.Gly1403fs)
|
rs2151461869
|
|
|
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.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.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.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.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.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.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.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.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.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.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.4322T>G (p.Leu1441Ter)
|
|
|
|
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>G (p.Lys1444Arg)
|
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+2T>C
|
rs786204207
|
|
|
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.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.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.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.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.4381A>T (p.Met1461Leu)
|
rs1555618675
|
|
|
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.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.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.4436del (p.Phe1479fs)
|
rs1555618803
|
|
|
NM_001042492.3(NF1):c.4438del (p.Asp1481fs)
|
rs1555618806
|
|
|
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.4457del (p.Cys1486fs)
|
|
|
|
NM_001042492.3(NF1):c.4460del (p.Pro1487fs)
|
rs1135402861
|
|
|
NM_001042492.3(NF1):c.4465A>G (p.Ser1489Gly)
|
rs199474743
|
|
|
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.4500dup (p.Asp1501Ter)
|
|
|
|
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.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.4563del (p.Leu1522fs)
|
rs2151464837
|
|
|
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.4578-2A>C
|
rs1555618996
|
|
|
NM_001042492.3(NF1):c.4578-2A>G
|
rs1555618996
|
|
|
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.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.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.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.4631del (p.Ala1544fs)
|
rs1597748782
|
|
|
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_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.4663del (p.Ala1555fs)
|
rs1567863614
|
|
|
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.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.46del (p.Arg16fs)
|
|
|
|
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>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.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.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_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.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+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.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.480-2A>G
|
rs1567820688
|
|
|
NM_001042492.3(NF1):c.4801_4802insA (p.Ala1601fs)
|
|
|
|
NM_001042492.3(NF1):c.4819del (p.Tyr1607fs)
|
rs876658492
|
|
|
NM_001042492.3(NF1):c.4819dup (p.Tyr1607fs)
|
rs876658492
|
|
|
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>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.4878del (p.His1626fs)
|
rs2151537626
|
|
|
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.4886dup (p.Thr1630fs)
|
rs2151537662
|
|
|
NM_001042492.3(NF1):c.4888del (p.Thr1630fs)
|
rs2069326761
|
|
|
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.4903_4917del (p.Tyr1635_Tyr1639del)
|
rs2069327013
|
|
|
NM_001042492.3(NF1):c.4904_4905del (p.Tyr1635fs)
|
|
|
|
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.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.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.4980_4981insTT (p.Lys1661fs)
|
rs2069329774
|
|
|
NM_001042492.3(NF1):c.4980dup (p.Lys1661Ter)
|
rs2069329774
|
|
|
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.499_502del (p.Cys167fs)
|
rs786201874
|
|
|
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.5021_5024dup (p.Ala1676fs)
|
rs876660286
|
|
|
NM_001042492.3(NF1):c.5029del (p.Val1677fs)
|
|
|
|
NM_001042492.3(NF1):c.5030TCTATA[1] (p.Ile1679_Tyr1680del)
|
rs1135402868
|
|
|
NM_001042492.3(NF1):c.5034T>A (p.Tyr1678Ter)
|
|
|
|
NM_001042492.3(NF1):c.5034T>G (p.Tyr1678Ter)
|
rs2069331323
|
|
|
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>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.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.5083_5084dup (p.Leu1696fs)
|
rs1555533366
|
|
|
NM_001042492.3(NF1):c.5090dup (p.Thr1698fs)
|
rs2151538435
|
|
|
NM_001042492.3(NF1):c.5092_5095del (p.Thr1698fs)
|
rs2069333368
|
|
|
NM_001042492.3(NF1):c.50_51delinsAA (p.Phe17Ter)
|
|
|
|
NM_001042492.3(NF1):c.5110A>T (p.Lys1704Ter)
|
|
|
|
NM_001042492.3(NF1):c.5115del (p.Arg1705fs)
|
|
|
|
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.5130_5131del (p.Asp1710fs)
|
|
|
|
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.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.5180del (p.Pro1727fs)
|
|
|
|
NM_001042492.3(NF1):c.5181dup (p.Ala1728fs)
|
|
|
|
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.5200G>T (p.Glu1734Ter)
|
|
|
|
NM_001042492.3(NF1):c.5204del (p.Glu1735fs)
|
|
|
|
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.5249del (p.Asp1750fs)
|
|
|
|
NM_001042492.3(NF1):c.5251dup (p.Thr1751fs)
|
rs2151539064
|
|
|
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.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+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.5269-1G>A
|
rs876660141
|
|
|
NM_001042492.3(NF1):c.5269-2A>G
|
rs1555533548
|
|
|
NM_001042492.3(NF1):c.5269-41_5291del
|
rs1555533543
|
|
|
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.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.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.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.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.5334del (p.Phe1778_Leu1779insTer)
|
rs1555533566
|
|
|
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.5357C>A (p.Ser1786Ter)
|
rs1555533569
|
|
|
NM_001042492.3(NF1):c.5359G>T (p.Glu1787Ter)
|
rs2151541088
|
|
|
NM_001042492.3(NF1):c.5368G>T (p.Glu1790Ter)
|
rs1597831990
|
|
|
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.5386G>T (p.Glu1796Ter)
|
|
|
|
NM_001042492.3(NF1):c.5389_5390dup (p.Asn1797fs)
|
|
|
|
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.5402T>G (p.Leu1801Ter)
|
rs2151541233
|
|
|
NM_001042492.3(NF1):c.540dup (p.Gln181fs)
|
rs2065904037
|
|
|
NM_001042492.3(NF1):c.5416C>T (p.Gln1806Ter)
|
rs2151541286
|
|
|
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.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.5470_5474del (p.Ile1824fs)
|
|
|
|
NM_001042492.3(NF1):c.5475_5478del (p.His1826fs)
|
rs2151541475
|
|
|
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.5508del (p.Asp1837fs)
|
|
|
|
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.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.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.5542A>T (p.Lys1848Ter)
|
|
|
|
NM_001042492.3(NF1):c.5545G>T (p.Asp1849Tyr)
|
|
|
|
NM_001042492.3(NF1):c.5546A>T (p.Asp1849Val)
|
rs1170679293
|
|
|
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.5578del (p.Asn1861fs)
|
|
|
|
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.5597del (p.Asp1866fs)
|
rs2151541931
|
|
|
NM_001042492.3(NF1):c.55G>T (p.Glu19Ter)
|
rs786203307
|
|
|
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+2T>C
|
|
|
|
NM_001042492.3(NF1):c.5609+2T>G
|
rs2069386858
|
|
|
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>T (p.Arg1870Leu)
|
rs786202112
|
|
|
NM_001042492.3(NF1):c.5610-1G>C
|
rs1567613569
|
|
|
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.5622_5623dup (p.Asn1875fs)
|
|
|
|
NM_001042492.3(NF1):c.5622dup (p.Asn1875Ter)
|
|
|
|
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.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.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.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.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.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.5755G>T (p.Glu1919Ter)
|
rs1227869359
|
|
|
NM_001042492.3(NF1):c.5764_5768del (p.Leu1922fs)
|
|
|
|
NM_001042492.3(NF1):c.5767dup (p.Thr1923fs)
|
rs2069453458
|
|
|
NM_001042492.3(NF1):c.5768C>A (p.Thr1923Lys)
|
rs786203824
|
|
|
NM_001042492.3(NF1):c.5771T>A (p.Leu1924Ter)
|
rs1198491194
|
|
|
NM_001042492.3(NF1):c.5771T>G (p.Leu1924Ter)
|
|
|
|
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.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.5812dup (p.Ser1938fs)
|
|
|
|
NM_001042492.3(NF1):c.5818G>T (p.Glu1940Ter)
|
rs1376900184
|
|
|
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.5828_5829del (p.His1943fs)
|
rs2151550270
|
|
|
NM_001042492.3(NF1):c.5833del (p.Cys1945fs)
|
rs1555534379
|
|
|
NM_001042492.3(NF1):c.5834del (p.Cys1945fs)
|
|
|
|
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.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.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>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.587-1G>C
|
|
|
|
NM_001042492.3(NF1):c.587-2A>G
|
rs1057518360
|
|
|
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.58C>T (p.Gln20Ter)
|
rs1567786905
|
|
|
NM_001042492.3(NF1):c.58dup (p.Gln20fs)
|
|
|
|
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.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.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.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.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.5990G>A (p.Trp1997Ter)
|
|
|
|
NM_001042492.3(NF1):c.5991G>A (p.Trp1997Ter)
|
rs876660696
|
|
|
NM_001042492.3(NF1):c.59A>C (p.Gln20Pro)
|
rs1598173901
|
|
|
NM_001042492.3(NF1):c.60+1G>A
|
rs1555594500
|
|
|
NM_001042492.3(NF1):c.60+1G>C
|
rs1555594500
|
|
|
NM_001042492.3(NF1):c.60+1G>T
|
rs1555594500
|
|
|
NM_001042492.3(NF1):c.60+2T>A
|
|
|
|
NM_001042492.3(NF1):c.60+2T>C
|
rs2143145948
|
|
|
NM_001042492.3(NF1):c.6004C>T (p.Gln2002Ter)
|
rs1567615941
|
|
|
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.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.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.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.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.6090dup (p.Met2031fs)
|
rs1555534611
|
|
|
NM_001042492.3(NF1):c.6096del (p.Asp2033fs)
|
rs2069670563
|
|
|
NM_001042492.3(NF1):c.61-1G>A
|
rs1263745475
|
|
|
NM_001042492.3(NF1):c.61-2A>G
|
rs1131691100
|
|
|
NM_001042492.3(NF1):c.61-2A>T
|
rs1131691100
|
|
|
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.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.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.6147_6147+4del
|
rs2069671900
|
|
|
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.6148-4_6148-2del
|
rs2069681044
|
|
|
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.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.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.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.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.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.6306C>A (p.Tyr2102Ter)
|
|
|
|
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.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.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.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.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.6379_6385del (p.Ile2127fs)
|
|
|
|
NM_001042492.3(NF1):c.6383dup (p.Asn2128fs)
|
|
|
|
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.6402T>A (p.Cys2134Ter)
|
rs1555534766
|
|
|
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+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>G
|
rs374014162
|
|
|
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.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.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.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.6492dup (p.Phe2165fs)
|
rs2151556162
|
|
|
NM_001042492.3(NF1):c.6495del (p.Phe2165fs)
|
rs2151556165
|
|
|
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.6514_6517del (p.Ser2172fs)
|
|
|
|
NM_001042492.3(NF1):c.6515C>G (p.Ser2172Ter)
|
rs2069704915
|
|
|
NM_001042492.3(NF1):c.6524_6525insAA (p.Ile2176fs)
|
rs2069705203
|
|
|
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.6546C>A (p.Tyr2182Ter)
|
|
|
|
NM_001042492.3(NF1):c.6546C>G (p.Tyr2182Ter)
|
rs876659768
|
|
|
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.6576T>A (p.Tyr2192Ter)
|
rs758917402
|
|
|
NM_001042492.3(NF1):c.6576T>G (p.Tyr2192Ter)
|
rs758917402
|
|
|
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.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.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.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.6643-2A>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.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_6688del (p.Trp2229_Thr2230delinsSer)
|
rs2069718437
|
|
|
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.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.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>G
|
rs1131691079
|
|
|
NM_001042492.3(NF1):c.6705-6T>G
|
rs1597844950
|
|
|
NM_001042492.3(NF1):c.670del (p.Trp223_Val224insTer)
|
|
|
|
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.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.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.6787C>T (p.Gln2263Ter)
|
|
|
|
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>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.6820-1G>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.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.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.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.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.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.6909del (p.Leu2304fs)
|
rs2151559384
|
|
|
NM_001042492.3(NF1):c.690_691insAAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAGAAAATTATCCAGATGAA (p.Glu230_Phe231insLysLeuLeuGlyArgLeuArgGlnGluAsnGlyValAsnProGlyGlyGlyAlaCysSerGluProArgSerArgXaaXaaXaaLysLysLysLysLysLysLysGluAsnTyrProAspGlu)
|
|
|
|
NM_001042492.3(NF1):c.6913del (p.Asn2306fs)
|
|
|
|
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>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.6930_6934dup (p.His2312fs)
|
rs2151561465
|
|
|
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.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.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.698_716del (p.Lys233fs)
|
|
|
|
NM_001042492.3(NF1):c.6993T>A (p.Tyr2331Ter)
|
rs2069792220
|
|
|
NM_001042492.3(NF1):c.6995C>G (p.Ser2332Ter)
|
|
|
|
NM_001042492.3(NF1):c.699del (p.Lys233fs)
|
|
|
|
NM_001042492.3(NF1):c.6del (p.Ala3fs)
|
rs2143144314
|
|
|
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.702_708del (p.Tyr235fs)
|
rs2066139158
|
|
|
NM_001042492.3(NF1):c.7030_7031insAAAACCTGCATACTTTAGATAGTCTCCGTATATTCAATGACAAGGTAAGCAAACTTTGCCTTGAGGTTCCTAGATTACTCAAATTTAGTACNNNNNNNNNNNNNNNNNNAAAAAAAAAAAAAAAAA (p.His2343_Thr2344insLysAsnLeuHisThrLeuAspSerLeuArgIlePheAsnAspLysValSerLysLeuCysLeuGluValProArgLeuLeuLysPheSerThrXaaXaaXaaXaaXaaXaaLysLysLysLysLys)
|
rs2151561896
|
|
|
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.7039dup (p.Ser2347fs)
|
rs2069794139
|
|
|
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.7062+1G>A
|
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.7063-1G>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.706C>T (p.Gln236Ter)
|
|
|
|
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.7076dup (p.Phe2360fs)
|
|
|
|
NM_001042492.3(NF1):c.707del (p.Gln236fs)
|
|
|
|
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.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.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.7167del (p.Leu2390fs)
|
|
|
|
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.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.7189G>T (p.Gly2397Trp)
|
|
|
|
NM_001042492.3(NF1):c.7190-1G>A
|
rs2070073417
|
|
|
NM_001042492.3(NF1):c.7190-1G>T
|
|
|
|
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.7197_7203dup (p.Ser2402fs)
|
|
|
|
NM_001042492.3(NF1):c.7204dup (p.Ser2402fs)
|
|
|
|
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.7236_7321+332del
|
|
|
|
NM_001042492.3(NF1):c.7238T>A (p.Leu2413Ter)
|
rs775181940
|
|
|
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.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.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.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.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.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.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.731-1G>A
|
rs1555608928
|
|
|
NM_001042492.3(NF1):c.731-1G>C
|
rs1555608928
|
|
|
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.731-6_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.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.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.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.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.7373del (p.Arg2458fs)
|
rs1060500335
|
|
|
NM_001042492.3(NF1):c.7379C>A (p.Ser2460Ter)
|
|
|
|
NM_001042492.3(NF1):c.7389del (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.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.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.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.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.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_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.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>G (p.Tyr2503Ter)
|
rs1555536359
|
|
|
NM_001042492.3(NF1):c.750del (p.Phe250fs)
|
rs1567826633
|
|
|
NM_001042492.3(NF1):c.7524_7525del (p.Pro2509fs)
|
rs2151577142
|
|
|
NM_001042492.3(NF1):c.7526dup (p.Thr2510fs)
|
rs2151577150
|
|
|
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.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.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.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.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.7666dup (p.Arg2556fs)
|
rs2151581134
|
|
|
NM_001042492.3(NF1):c.7672G>T (p.Glu2558Ter)
|
|
|
|
NM_001042492.3(NF1):c.7682C>G (p.Ser2561Ter)
|
rs2070274228
|
|
|
NM_001042492.3(NF1):c.7701del (p.Lys2568_Met2569insTer)
|
rs1060500295
|
|
|
NM_001042492.3(NF1):c.7701dup (p.Lys2568fs)
|
rs1060500295
|
|
|
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.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.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.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.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.7784_7785del (p.Lys2595fs)
|
rs1597866414
|
|
|
NM_001042492.3(NF1):c.7788_7789dup (p.Ser2597fs)
|
rs2070287917
|
|
|
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.7807_7811del (p.Val2603fs)
|
|
|
|
NM_001042492.3(NF1):c.7808_7809dup (p.Leu2604fs)
|
|
|
|
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.7831dup (p.Thr2611fs)
|
|
|
|
NM_001042492.3(NF1):c.7838del (p.Pro2613fs)
|
rs1131691129
|
|
|
NM_001042492.3(NF1):c.7839del (p.Lys2614fs)
|
rs2070290006
|
|
|
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.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.7870-1G>A
|
rs1567627138
|
|
|
NM_001042492.3(NF1):c.7870-1G>C
|
rs1567627138
|
|
|
NM_001042492.3(NF1):c.7870-2A>C
|
rs2070296011
|
|
|
NM_001042492.3(NF1):c.7870-2A>G
|
rs2070296011
|
|
|
NM_001042492.3(NF1):c.7880del (p.Val2627fs)
|
|
|
|
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.7906C>T (p.Gln2636Ter)
|
rs567988442
|
|
|
NM_001042492.3(NF1):c.7909C>T (p.Arg2637Ter)
|
rs786201367
|
|
|
NM_001042492.3(NF1):c.790del (p.Ala264fs)
|
rs1597659893
|
|
|
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.7925_7926insT (p.Ala2644fs)
|
|
|
|
NM_001042492.3(NF1):c.7926C>G (p.Tyr2642Ter)
|
rs1567627217
|
|
|
NM_001042492.3(NF1):c.7928del (p.Tyr2642_Leu2643insTer)
|
|
|
|
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.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.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+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.7971-2A>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.800G>A (p.Trp267Ter)
|
|
|
|
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.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.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.8099_8100insTA (p.Ser2701fs)
|
|
|
|
NM_001042492.3(NF1):c.8099del (p.Thr2700fs)
|
|
|
|
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.8136G>A (p.Trp2712Ter)
|
|
|
|
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.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.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.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.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.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.889-2A>G
|
rs878853922
|
|
|
NM_001042492.3(NF1):c.889-2del
|
rs1567834983
|
|
|
NM_001042492.3(NF1):c.889A>T (p.Lys297Ter)
|
rs786202384
|
|
|
NM_001042492.3(NF1):c.88del (p.Thr30fs)
|
rs2143625553
|
|
|
NM_001042492.3(NF1):c.894del (p.Leu298fs)
|
rs2143872026
|
|
|
NM_001042492.3(NF1):c.900_908del (p.Asp301_Leu303del)
|
|
|
|
NM_001042492.3(NF1):c.903_913del (p.Asp301fs)
|
rs2066505751
|
|
|
NM_001042492.3(NF1):c.907_908del (p.Leu303fs)
|
|
|
|
NM_001042492.3(NF1):c.908T>C (p.Leu303Pro)
|
|
|
|
NM_001042492.3(NF1):c.908T>G (p.Leu303Arg)
|
|
|
|
NM_001042492.3(NF1):c.908del (p.Leu303fs)
|
rs1555610848
|
|
|
NM_001042492.3(NF1):c.909_910delinsTT (p.Arg304Ter)
|
rs1555610854
|
|
|
NM_001042492.3(NF1):c.910C>T (p.Arg304Ter)
|
rs786203950
|
|
|
NM_001042492.3(NF1):c.910del (p.Arg304fs)
|
|
|
|
NM_001042492.3(NF1):c.915dup (p.Ala306fs)
|
|
|
|
NM_001042492.3(NF1):c.916del (p.Ala306fs)
|
rs2143872349
|
|
|
NM_001042492.3(NF1):c.91_92del (p.His31fs)
|
rs1567814432
|
|
|
NM_001042492.3(NF1):c.91_92dup (p.Thr32fs)
|
rs1567814432
|
|
|
NM_001042492.3(NF1):c.91del (p.His31fs)
|
|
|
|
NM_001042492.3(NF1):c.921_924dup (p.Gly309fs)
|
|
|
|
NM_001042492.3(NF1):c.921del (p.Ala308fs)
|
|
|
|
NM_001042492.3(NF1):c.924_927del (p.Gly309fs)
|
rs1060500301
|
|
|
NM_001042492.3(NF1):c.933_934dup (p.Gly312fs)
|
|
|
|
NM_001042492.3(NF1):c.937del (p.Ser313fs)
|
rs2143872679
|
|
|
NM_001042492.3(NF1):c.93_94insTA (p.Thr32Ter)
|
|
|
|
NM_001042492.3(NF1):c.942_943delinsTT (p.Arg314_Gln315delinsSerTer)
|
|
|
|
NM_001042492.3(NF1):c.943C>T (p.Gln315Ter)
|
rs766011053
|
|
|
NM_001042492.3(NF1):c.944_945insTGCC (p.Gln315fs)
|
rs2066506904
|
|
|
NM_001042492.3(NF1):c.944del (p.Gln315fs)
|
|
|
|
NM_001042492.3(NF1):c.94dup (p.Thr32fs)
|
rs2143625661
|
|
|
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.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.97A>T (p.Lys33Ter)
|
rs1060500324
|
|
|
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.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.99A>G (p.Lys33=)
|
rs786203280
|
|
|
NM_001042492.3(NF1):c.99del (p.Val34fs)
|
rs1060500320
|
|
|
NM_001042492.3(NF1):c.9del (p.His4fs)
|
rs2143144491
|
|
|
NM_001374258.1(BRAF):c.1523T>C (p.Phe508Ser)
|
rs397507473
|
|
|
NM_001374258.1(BRAF):c.2034T>G (p.Asp678Glu)
|
rs180177042
|
|
|
NM_002524.5(NRAS):c.149C>T (p.Thr50Ile)
|
rs267606921
|
|
|
NM_002524.5(NRAS):c.173C>T (p.Thr58Ile)
|
rs2101742052
|
|
|
NM_002524.5(NRAS):c.34G>A (p.Gly12Ser)
|
rs121913250
|
|
|
NM_002755.4(MAP2K1):c.161T>C (p.Leu54Pro)
|
rs2140578916
|
|
|
NM_002755.4(MAP2K1):c.199G>A (p.Asp67Asn)
|
rs727504317
|
|
|
NM_002755.4(MAP2K1):c.305A>G (p.Glu102Gly)
|
rs797044593
|
|
|
NM_002755.4(MAP2K1):c.332T>A (p.Ile111Asn)
|
rs1057519730
|
|
|
NM_002755.4(MAP2K1):c.355C>T (p.His119Tyr)
|
rs730880503
|
|
|
NM_002755.4(MAP2K1):c.371C>T (p.Pro124Leu)
|
rs397516792
|
|
|
NM_002755.4(MAP2K1):c.383G>T (p.Gly128Val)
|
rs121908596
|
|
|
NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys)
|
rs121908595
|
|
|
NM_002834.5(PTPN11):c.1075G>T (p.Glu359Ter)
|
rs2135902177
|
|
|
NM_002834.5(PTPN11):c.1147dup (p.Met383fs)
|
rs2038606313
|
|
|
NM_002834.5(PTPN11):c.124A>G (p.Thr42Ala)
|
rs397507501
|
|
|
NM_002834.5(PTPN11):c.1282G>C (p.Val428Leu)
|
rs397507536
|
|
|
NM_002834.5(PTPN11):c.1282G>T (p.Val428Leu)
|
rs397507536
|
|
|
NM_002834.5(PTPN11):c.1381G>A (p.Ala461Thr)
|
rs121918468
|
|
|
NM_002834.5(PTPN11):c.1381G>T (p.Ala461Ser)
|
rs121918468
|
|
|
NM_002834.5(PTPN11):c.1391G>C (p.Gly464Ala)
|
rs121918469
|
|
|
NM_002834.5(PTPN11):c.1402A>C (p.Thr468Pro)
|
rs397507537
|
|
|
NM_002834.5(PTPN11):c.1471C>A (p.Pro491Thr)
|
rs397507539
|
|
|
NM_002834.5(PTPN11):c.1471C>G (p.Pro491Ala)
|
rs397507539
|
|
|
NM_002834.5(PTPN11):c.1471C>T (p.Pro491Ser)
|
rs397507539
|
|
|
NM_002834.5(PTPN11):c.1472C>A (p.Pro491His)
|
rs397507540
|
|
|
NM_002834.5(PTPN11):c.1472C>T (p.Pro491Leu)
|
rs397507540
|
|
|
NM_002834.5(PTPN11):c.1493G>T (p.Arg498Leu)
|
rs397507542
|
|
|
NM_002834.5(PTPN11):c.1502G>A (p.Arg501Lys)
|
rs397507543
|
|
|
NM_002834.5(PTPN11):c.1504T>A (p.Ser502Thr)
|
rs121918458
|
|
|
NM_002834.5(PTPN11):c.1504T>G (p.Ser502Ala)
|
rs121918458
|
|
|
NM_002834.5(PTPN11):c.1505C>T (p.Ser502Leu)
|
rs397507544
|
|
|
NM_002834.5(PTPN11):c.1506_1507delinsCC (p.Gly503Arg)
|
rs1566186833
|
|
|
NM_002834.5(PTPN11):c.1507G>A (p.Gly503Arg)
|
rs397507545
|
|
|
NM_002834.5(PTPN11):c.1507G>C (p.Gly503Arg)
|
rs397507545
|
|
|
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val)
|
rs397507547
|
|
|
NM_002834.5(PTPN11):c.1517A>C (p.Gln506Pro)
|
rs397507548
|
|
|
NM_002834.5(PTPN11):c.1528C>G (p.Gln510Glu)
|
rs397507549
|
|
|
NM_002834.5(PTPN11):c.1529A>C (p.Gln510Pro)
|
rs121918470
|
|
|
NM_002834.5(PTPN11):c.1529A>G (p.Gln510Arg)
|
rs121918470
|
|
|
NM_002834.5(PTPN11):c.1534C>T (p.Arg512Ter)
|
|
|
|
NM_002834.5(PTPN11):c.172A>C (p.Asn58His)
|
rs397507505
|
|
|
NM_002834.5(PTPN11):c.172A>G (p.Asn58Asp)
|
rs397507505
|
|
|
NM_002834.5(PTPN11):c.174C>A (p.Asn58Lys)
|
rs397507506
|
|
|
NM_002834.5(PTPN11):c.174C>G (p.Asn58Lys)
|
rs397507506
|
|
|
NM_002834.5(PTPN11):c.178G>A (p.Gly60Ser)
|
rs397507507
|
|
|
NM_002834.5(PTPN11):c.178G>T (p.Gly60Cys)
|
rs397507507
|
|
|
NM_002834.5(PTPN11):c.179G>C (p.Gly60Ala)
|
rs397507509
|
|
|
NM_002834.5(PTPN11):c.181G>A (p.Asp61Asn)
|
rs397507510
|
|
|
NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly)
|
rs121918461
|
|
|
NM_002834.5(PTPN11):c.182A>T (p.Asp61Val)
|
rs121918461
|
|
|
NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp)
|
rs121918460
|
|
|
NM_002834.5(PTPN11):c.18del (p.Trp6fs)
|
rs2135856266
|
|
|
NM_002834.5(PTPN11):c.205G>C (p.Glu69Gln)
|
rs397507511
|
|
|
NM_002834.5(PTPN11):c.209A>G (p.Lys70Arg)
|
rs397516801
|
|
|
NM_002834.5(PTPN11):c.211T>C (p.Phe71Leu)
|
rs397507512
|
|
|
NM_002834.5(PTPN11):c.213T>G (p.Phe71Leu)
|
rs1555267558
|
|
|
NM_002834.5(PTPN11):c.214G>T (p.Ala72Ser)
|
rs121918453
|
|
|
NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly)
|
rs121918454
|
|
|
NM_002834.5(PTPN11):c.218C>T (p.Thr73Ile)
|
rs121918462
|
|
|
NM_002834.5(PTPN11):c.220_221dup (p.Leu74fs)
|
rs2135862367
|
|
|
NM_002834.5(PTPN11):c.228G>C (p.Glu76Asp)
|
rs397507514
|
|
|
NM_002834.5(PTPN11):c.228G>T (p.Glu76Asp)
|
rs397507514
|
|
|
NM_002834.5(PTPN11):c.236A>C (p.Gln79Pro)
|
|
|
|
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg)
|
rs121918466
|
|
|
NM_002834.5(PTPN11):c.265_269del (p.Lys89fs)
|
|
|
|
NM_002834.5(PTPN11):c.317A>C (p.Asp106Ala)
|
rs397507517
|
|
|
NM_002834.5(PTPN11):c.328G>A (p.Glu110Lys)
|
rs397507518
|
|
|
NM_002834.5(PTPN11):c.329A>C (p.Glu110Ala)
|
rs397507519
|
|
|
NM_002834.5(PTPN11):c.409del (p.Val137fs)
|
rs2038103354
|
|
|
NM_002834.5(PTPN11):c.412C>T (p.Arg138Ter)
|
rs267606989
|
|
|
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp)
|
rs397507520
|
|
|
NM_002834.5(PTPN11):c.417G>T (p.Glu139Asp)
|
rs397507520
|
|
|
NM_002834.5(PTPN11):c.569T>A (p.Leu190Ter)
|
rs2038125958
|
|
|
NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile)
|
rs267606990
|
|
|
NM_002834.5(PTPN11):c.634_638del (p.Leu212fs)
|
rs2038127324
|
|
|
NM_002834.5(PTPN11):c.661del (p.Arg220_Ile221insTer)
|
rs397516807
|
|
|
NM_002834.5(PTPN11):c.691C>T (p.Arg231Ter)
|
rs2038154558
|
|
|
NM_002834.5(PTPN11):c.745G>T (p.Glu249Ter)
|
|
|
|
NM_002834.5(PTPN11):c.762ACA[4] (p.Gln257dup)
|
rs397507524
|
|
|
NM_002834.5(PTPN11):c.766C>A (p.Gln256Lys)
|
rs1391791847
|
|
|
NM_002834.5(PTPN11):c.767A>G (p.Gln256Arg)
|
rs397507523
|
|
|
NM_002834.5(PTPN11):c.782T>A (p.Leu261His)
|
rs765642157
|
|
|
NM_002834.5(PTPN11):c.785T>G (p.Leu262Arg)
|
rs397507526
|
|
|
NM_002834.5(PTPN11):c.802G>A (p.Gly268Ser)
|
rs397507527
|
|
|
NM_002834.5(PTPN11):c.802G>T (p.Gly268Cys)
|
rs397507527
|
|
|
NM_002834.5(PTPN11):c.836A>C (p.Tyr279Ser)
|
rs121918456
|
|
|
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys)
|
rs121918456
|
|
|
NM_002834.5(PTPN11):c.846C>G (p.Ile282Met)
|
rs397507530
|
|
|
NM_002834.5(PTPN11):c.853T>C (p.Phe285Leu)
|
rs397507531
|
|
|
NM_002834.5(PTPN11):c.854T>C (p.Phe285Ser)
|
rs121918463
|
|
|
NM_002834.5(PTPN11):c.854T>G (p.Phe285Cys)
|
rs121918463
|
|
|
NM_002834.5(PTPN11):c.855T>G (p.Phe285Leu)
|
rs397516810
|
|
|
NM_002834.5(PTPN11):c.923A>C (p.Asn308Thr)
|
rs121918455
|
|
|
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser)
|
rs121918455
|
|
|
NM_002834.5(PTPN11):c.971_972insGAGTTACAAGTGCAACAATTCAAAG (p.Lys325fs)
|
|
|
|
NM_002880.4(RAF1):c.1082G>C (p.Gly361Ala)
|
rs397516813
|
|
|
NM_002880.4(RAF1):c.1279A>G (p.Ser427Gly)
|
rs730881002
|
|
|
NM_002880.4(RAF1):c.1457A>G (p.Asp486Gly)
|
rs397516815
|
|
|
NM_002880.4(RAF1):c.1472C>T (p.Thr491Ile)
|
rs80338799
|
|
|
NM_002880.4(RAF1):c.1837C>G (p.Leu613Val)
|
rs80338797
|
|
|
NM_002880.4(RAF1):c.505G>C (p.Gly169Arg)
|
rs886039607
|
|
|
NM_002880.4(RAF1):c.766A>G (p.Arg256Gly)
|
rs397516825
|
|
|
NM_002880.4(RAF1):c.768G>C (p.Arg256Ser)
|
rs397516826
|
|
|
NM_002880.4(RAF1):c.768G>T (p.Arg256Ser)
|
rs397516826
|
|
|
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu)
|
rs80338796
|
|
|
NM_002880.4(RAF1):c.775T>A (p.Ser259Thr)
|
rs3730271
|
|
|
NM_002880.4(RAF1):c.775T>C (p.Ser259Pro)
|
rs3730271
|
|
|
NM_002880.4(RAF1):c.776C>G (p.Ser259Cys)
|
rs397516827
|
|
|
NM_002880.4(RAF1):c.776C>T (p.Ser259Phe)
|
rs397516827
|
|
|
NM_002880.4(RAF1):c.778A>C (p.Thr260Pro)
|
rs1085307553
|
|
|
NM_002880.4(RAF1):c.779C>T (p.Thr260Ile)
|
rs869025501
|
|
|
NM_002880.4(RAF1):c.781C>A (p.Pro261Thr)
|
rs121434594
|
|
|
NM_002880.4(RAF1):c.781C>G (p.Pro261Ala)
|
rs121434594
|
|
|
NM_002880.4(RAF1):c.781C>T (p.Pro261Ser)
|
rs121434594
|
|
|
NM_002880.4(RAF1):c.782C>A (p.Pro261His)
|
|
|
|
NM_002880.4(RAF1):c.782C>G (p.Pro261Arg)
|
rs397516828
|
|
|
NM_002880.4(RAF1):c.782C>T (p.Pro261Leu)
|
rs397516828
|
|
|
NM_002880.4(RAF1):c.786T>G (p.Asn262Lys)
|
|
|
|
NM_002880.4(RAF1):c.788T>A (p.Val263Asp)
|
rs397516830
|
|
|
NM_002880.4(RAF1):c.788T>C (p.Val263Ala)
|
rs397516830
|
|
|
NM_002880.4(RAF1):c.788T>G (p.Val263Gly)
|
rs397516830
|
|
|
NM_004333.6(BRAF):c.1390G>A (p.Gly464Arg)
|
rs121913349
|
|
|
NM_004333.6(BRAF):c.1391G>A (p.Gly464Glu)
|
rs121913348
|
|
|
NM_004333.6(BRAF):c.1391G>T (p.Gly464Val)
|
rs121913348
|
|
|
NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu)
|
rs121913355
|
|
|
NM_004333.6(BRAF):c.1411G>T (p.Val471Phe)
|
rs121913376
|
|
|
NM_004333.6(BRAF):c.1455G>C (p.Leu485Phe)
|
rs180177036
|
|
|
NM_004333.6(BRAF):c.1455G>T (p.Leu485Phe)
|
rs180177036
|
|
|
NM_004333.6(BRAF):c.1460T>G (p.Val487Gly)
|
rs397516893
|
|
|
NM_004333.6(BRAF):c.1501G>A (p.Glu501Lys)
|
rs180177038
|
|
|
NM_004333.6(BRAF):c.1502A>C (p.Glu501Ala)
|
rs180177039
|
|
|
NM_004333.6(BRAF):c.1502A>G (p.Glu501Gly)
|
rs180177039
|
|
|
NM_004333.6(BRAF):c.1502A>T (p.Glu501Val)
|
rs180177039
|
|
|
NM_004333.6(BRAF):c.1574T>A (p.Leu525Gln)
|
rs869025340
|
|
|
NM_004333.6(BRAF):c.1741A>G (p.Asn581Asp)
|
rs180177040
|
|
|
NM_004333.6(BRAF):c.1783T>C (p.Phe595Leu)
|
rs794729219
|
|
|
NM_004333.6(BRAF):c.1785T>A (p.Phe595Leu)
|
rs121913341
|
|
|
NM_004333.6(BRAF):c.1785T>G (p.Phe595Leu)
|
rs121913341
|
|
|
NM_004333.6(BRAF):c.1787G>T (p.Gly596Val)
|
rs397507483
|
|
|
NM_004333.6(BRAF):c.1789C>G (p.Leu597Val)
|
rs121913369
|
|
|
NM_004333.6(BRAF):c.1799T>G (p.Val600Gly)
|
rs113488022
|
|
|
NM_004333.6(BRAF):c.1801A>C (p.Lys601Gln)
|
rs121913364
|
|
|
NM_004333.6(BRAF):c.1802A>C (p.Lys601Thr)
|
rs397507484
|
|
|
NM_004333.6(BRAF):c.1802A>T (p.Lys601Ile)
|
rs397507484
|
|
|
NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu)
|
rs180177042
|
|
|
NM_004333.6(BRAF):c.708C>A (p.Asn236Lys)
|
rs138333692
|
|
|
NM_004333.6(BRAF):c.721A>C (p.Thr241Pro)
|
rs387906661
|
|
|
NM_004333.6(BRAF):c.722C>G (p.Thr241Arg)
|
rs387906660
|
|
|
NM_004333.6(BRAF):c.722C>T (p.Thr241Met)
|
rs387906660
|
|
|
NM_004333.6(BRAF):c.730A>C (p.Thr244Pro)
|
rs397507465
|
|
|
NM_004333.6(BRAF):c.735A>C (p.Leu245Phe)
|
rs397507466
|
|
|
NM_004333.6(BRAF):c.736G>C (p.Ala246Pro)
|
rs180177034
|
|
|
NM_004333.6(BRAF):c.739T>C (p.Phe247Leu)
|
rs397516903
|
|
|
NM_004333.6(BRAF):c.741T>G (p.Phe247Leu)
|
rs397509343
|
|
|
NM_004333.6(BRAF):c.769C>A (p.Gln257Lys)
|
rs397507469
|
|
|
NM_004333.6(BRAF):c.770A>G (p.Gln257Arg)
|
rs180177035
|
|
|
NM_004333.6(BRAF):c.785A>C (p.Gln262Pro)
|
rs397516904
|
|
|
NM_004333.6(BRAF):c.823G>A (p.Glu275Lys)
|
rs2129044284
|
|
|
NM_004985.5(KRAS):c.101C>G (p.Pro34Arg)
|
rs104894366
|
|
|
NM_004985.5(KRAS):c.101C>T (p.Pro34Leu)
|
rs104894366
|
|
|
NM_004985.5(KRAS):c.108A>G (p.Ile36Met)
|
rs727503109
|
|
|
NM_004985.5(KRAS):c.13A>G (p.Lys5Glu)
|
rs193929331
|
|
|
NM_004985.5(KRAS):c.173C>T (p.Thr58Ile)
|
rs104894364
|
|
|
NM_004985.5(KRAS):c.178G>C (p.Gly60Arg)
|
rs104894359
|
|
|
NM_004985.5(KRAS):c.179G>T (p.Gly60Val)
|
rs727503108
|
|
|
NM_004985.5(KRAS):c.35G>T (p.Gly12Val)
|
rs121913529
|
|
|
NM_004985.5(KRAS):c.40G>A (p.Val14Ile)
|
rs104894365
|
|
|
NM_004985.5(KRAS):c.458A>G (p.Asp153Gly)
|
rs104894360
|
|
|
NM_004985.5(KRAS):c.458A>T (p.Asp153Val)
|
rs104894360
|
|
|
NM_004985.5(KRAS):c.65A>G (p.Gln22Arg)
|
rs727503110
|
|
|
NM_005188.4(CBL):c.1096-1G>C
|
rs397517076
|
|
|
NM_005188.4(CBL):c.1096-4_1096-1del
|
rs397517077
|
|
|
NM_005188.4(CBL):c.1100A>C (p.Gln367Pro)
|
rs267606704
|
|
|
NM_005188.4(CBL):c.1228-2A>G
|
rs727504426
|
|
|
NM_005343.4(HRAS):c.173C>T (p.Thr58Ile)
|
rs121917758
|
|
|
NM_005343.4(HRAS):c.179G>A (p.Gly60Asp)
|
rs730880460
|
|
|
NM_005343.4(HRAS):c.186_206dup (p.Glu62_Arg68dup)
|
rs1554884966
|
|
|
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser)
|
rs104894229
|
|
|
NM_005343.4(HRAS):c.34G>T (p.Gly12Cys)
|
rs104894229
|
|
|
NM_005343.4(HRAS):c.35G>A (p.Gly12Asp)
|
rs104894230
|
|
|
NM_005343.4(HRAS):c.35G>C (p.Gly12Ala)
|
rs104894230
|
|
|
NM_005343.4(HRAS):c.35_36delinsTT (p.Gly12Val)
|
rs727503094
|
|
|
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys)
|
rs104894228
|
|
|
NM_005343.4(HRAS):c.38G>A (p.Gly13Asp)
|
rs104894226
|
|
|
NM_005633.4(SOS1):c.1132A>G (p.Thr378Ala)
|
rs397517146
|
|
|
NM_005633.4(SOS1):c.1294T>A (p.Trp432Arg)
|
|
|
|
NM_005633.4(SOS1):c.1294T>C (p.Trp432Arg)
|
rs267607080
|
|
|
NM_005633.4(SOS1):c.1297G>A (p.Glu433Lys)
|
rs397517147
|
|
|
NM_005633.4(SOS1):c.1300G>A (p.Gly434Arg)
|
rs397517148
|
|
|
NM_005633.4(SOS1):c.1300G>C (p.Gly434Arg)
|
rs397517148
|
|
|
NM_005633.4(SOS1):c.1310T>C (p.Ile437Thr)
|
rs397517150
|
|
|
NM_005633.4(SOS1):c.1322G>A (p.Cys441Tyr)
|
rs727504295
|
|
|
NM_005633.4(SOS1):c.1394A>G (p.Asp465Gly)
|
|
|
|
NM_005633.4(SOS1):c.1642A>C (p.Ser548Arg)
|
rs397517149
|
|
|
NM_005633.4(SOS1):c.1644T>A (p.Ser548Arg)
|
rs730881045
|
|
|
NM_005633.4(SOS1):c.1649T>C (p.Leu550Pro)
|
rs397517153
|
|
|
NM_005633.4(SOS1):c.1654A>G (p.Arg552Gly)
|
rs137852814
|
|
|
NM_005633.4(SOS1):c.1655G>A (p.Arg552Lys)
|
rs397517154
|
|
|
NM_005633.4(SOS1):c.1655G>C (p.Arg552Thr)
|
rs397517154
|
|
|
NM_005633.4(SOS1):c.1655G>T (p.Arg552Met)
|
rs397517154
|
|
|
NM_005633.4(SOS1):c.1656G>C (p.Arg552Ser)
|
rs267607079
|
|
|
NM_005633.4(SOS1):c.1656G>T (p.Arg552Ser)
|
rs267607079
|
|
|
NM_005633.4(SOS1):c.1867T>G (p.Phe623Val)
|
rs727505093
|
|
|
NM_005633.4(SOS1):c.2104T>C (p.Tyr702His)
|
rs727505381
|
|
|
NM_005633.4(SOS1):c.2183A>T (p.Lys728Ile)
|
rs397517156
|
|
|
NM_005633.4(SOS1):c.2197A>T (p.Ile733Phe)
|
rs574088829
|
|
|
NM_005633.4(SOS1):c.2536G>A (p.Glu846Lys)
|
rs397517159
|
|
|
NM_005633.4(SOS1):c.253T>C (p.Trp85Arg)
|
rs730881054
|
|
|
NM_005633.4(SOS1):c.2894C>G (p.Ala965Gly)
|
|
|
|
NM_005633.4(SOS1):c.305C>G (p.Pro102Arg)
|
rs1553362937
|
|
|
NM_005633.4(SOS1):c.322G>A (p.Glu108Lys)
|
rs397517164
|
|
|
NM_005633.4(SOS1):c.508A>G (p.Lys170Glu)
|
rs397517172
|
|
|
NM_005633.4(SOS1):c.797C>A (p.Thr266Lys)
|
rs137852812
|
|
|
NM_005633.4(SOS1):c.806T>C (p.Met269Thr)
|
rs137852813
|
|
|
NM_005633.4(SOS1):c.806T>G (p.Met269Arg)
|
rs137852813
|
|
|
NM_005633.4(SOS1):c.925G>T (p.Asp309Tyr)
|
rs397517180
|
|
|
NM_006912.6(RIT1):c.170C>G (p.Ala57Gly)
|
rs672601334
|
|
|
NM_006912.6(RIT1):c.229G>A (p.Ala77Thr)
|
rs869025191
|
|
|
NM_006912.6(RIT1):c.229G>C (p.Ala77Pro)
|
rs869025191
|
|
|
NM_006912.6(RIT1):c.229G>T (p.Ala77Ser)
|
rs869025191
|
|
|
NM_006912.6(RIT1):c.230C>G (p.Ala77Gly)
|
rs1673399238
|
|
|
NM_006912.6(RIT1):c.242A>G (p.Glu81Gly)
|
rs869025193
|
|
|
NM_006912.6(RIT1):c.244T>A (p.Phe82Ile)
|
rs869025194
|
|
|
NM_006912.6(RIT1):c.244T>C (p.Phe82Leu)
|
rs869025194
|
|
|
NM_006912.6(RIT1):c.244T>G (p.Phe82Val)
|
rs869025194
|
|
|
NM_006912.6(RIT1):c.246T>A (p.Phe82Leu)
|
rs730881014
|
|
|
NM_006912.6(RIT1):c.246T>G (p.Phe82Leu)
|
rs730881014
|
|
|
NM_006912.6(RIT1):c.247A>C (p.Thr83Pro)
|
rs869025195
|
|
|
NM_006912.6(RIT1):c.259G>C (p.Asp87His)
|
rs886041414
|
|
|
NM_006912.6(RIT1):c.265T>C (p.Tyr89His)
|
rs869025197
|
|
|
NM_006912.6(RIT1):c.268A>G (p.Met90Val)
|
|
|
|
NM_006912.6(RIT1):c.270G>A (p.Met90Ile)
|
rs483352822
|
|
|
NM_006912.6(RIT1):c.270G>C (p.Met90Ile)
|
rs483352822
|
|
|
NM_006912.6(RIT1):c.270G>T (p.Met90Ile)
|
rs483352822
|
|
|
NM_006912.6(RIT1):c.284G>C (p.Gly95Ala)
|
rs672601335
|
|
|
NM_006912.6(RIT1):c.365G>T (p.Arg122Leu)
|
rs777520196
|
|
|
NM_006912.6(RIT1):c.67A>C (p.Lys23Gln)
|
rs869312687
|
|
|
NM_006912.6(RIT1):c.69A>C (p.Lys23Asn)
|
rs1557962794
|
|
|
NM_006939.4(SOS2):c.1127C>G (p.Thr376Ser)
|
rs869320687
|
|
|
NM_006939.4(SOS2):c.1291G>A (p.Glu431Lys)
|
|
|
|
NM_006939.4(SOS2):c.791C>A (p.Thr264Lys)
|
|
|
|
NM_006939.4(SOS2):c.800T>A (p.Met267Lys)
|
rs797045167
|
|
|
NM_006939.4(SOS2):c.800T>C (p.Met267Thr)
|
rs797045167
|
|
|
NM_006939.4(SOS2):c.800T>G (p.Met267Arg)
|
|
|
|
NM_007373.4(SHOC2):c.519G>A (p.Met173Ile)
|
rs730881020
|
|
|
NM_007373.4(SHOC2):c.519G>C (p.Met173Ile)
|
|
|
|
NM_030662.4(MAP2K2):c.171T>A (p.Phe57Leu)
|
rs1057519910
|
|
|
NM_030662.4(MAP2K2):c.181A>G (p.Lys61Glu)
|
rs730880517
|
|
|
NM_030662.4(MAP2K2):c.183A>C (p.Lys61Asn)
|
rs886041310
|
|
|
NM_030662.4(MAP2K2):c.400T>C (p.Tyr134His)
|
rs121434499
|
|
|
NM_030662.4(MAP2K2):c.401A>G (p.Tyr134Cys)
|
rs727504370
|
|
|
NM_030662.4(MAP2K2):c.619G>A (p.Glu207Lys)
|
rs727504382
|
|
|
NM_033360.4(KRAS):c.*22C>G
|
rs104894362
|
|
|
NM_033360.4(KRAS):c.178G>A (p.Gly60Ser)
|
rs104894359
|
|
|
NM_033360.4(KRAS):c.194G>T (p.Ser65Ile)
|
rs1555194026
|
|
|
NM_033360.4(KRAS):c.64C>G (p.Gln22Glu)
|
rs121913236
|
|
|
NM_152594.3(SPRED1):c.1011C>A (p.Tyr337Ter)
|
rs2141016437
|
|
|
NM_152594.3(SPRED1):c.1015C>T (p.Gln339Ter)
|
rs1566876895
|
|
|
NM_152594.3(SPRED1):c.1035_1047del (p.Gly350fs)
|
|
|
|
NM_152594.3(SPRED1):c.1043_1044insCAGGGGAAAATGT (p.Cys352_Gln353insTer)
|
|
|
|
NM_152594.3(SPRED1):c.1044_1046delinsC (p.Arg349fs)
|
rs1566876929
|
|
|
NM_152594.3(SPRED1):c.1044_1056del (p.Gly350fs)
|
rs2141016462
|
|
|
NM_152594.3(SPRED1):c.1053del (p.Lys351fs)
|
rs1566876954
|
|
|
NM_152594.3(SPRED1):c.1073del (p.Pro358fs)
|
|
|
|
NM_152594.3(SPRED1):c.1091_1106del (p.Tyr364fs)
|
|
|
|
NM_152594.3(SPRED1):c.1099_1102del (p.Ser367fs)
|
rs1555392783
|
|
|
NM_152594.3(SPRED1):c.1117G>T (p.Glu373Ter)
|
|
|
|
NM_152594.3(SPRED1):c.1132_1139del (p.His378fs)
|
rs2141016553
|
|
|
NM_152594.3(SPRED1):c.1142C>G (p.Ser381Ter)
|
|
|
|
NM_152594.3(SPRED1):c.1142del (p.Met380_Ser381insTer)
|
|
|
|
NM_152594.3(SPRED1):c.1149_1152del (p.Gly385fs)
|
rs1595763925
|
|
|
NM_152594.3(SPRED1):c.1151_1152del (p.Glu384fs)
|
rs878855228
|
|
|
NM_152594.3(SPRED1):c.1151del (p.Glu384fs)
|
rs1595763928
|
|
|
NM_152594.3(SPRED1):c.1175C>A (p.Ser392Ter)
|
rs1345810751
|
|
|
NM_152594.3(SPRED1):c.1207C>T (p.Arg403Ter)
|
|
|
|
NM_152594.3(SPRED1):c.1211G>A (p.Trp404Ter)
|
|
|
|
NM_152594.3(SPRED1):c.1224del (p.Ala409fs)
|
|
|
|
NM_152594.3(SPRED1):c.1232_1241del (p.Ser411fs)
|
rs2141016685
|
|
|
NM_152594.3(SPRED1):c.1235dup (p.Ile413fs)
|
|
|
|
NM_152594.3(SPRED1):c.1237_1238del (p.Ile413fs)
|
rs2141016692
|
|
|
NM_152594.3(SPRED1):c.148C>T (p.Gln50Ter)
|
rs148646547
|
|
|
NM_152594.3(SPRED1):c.177del (p.Phe59fs)
|
|
|
|
NM_152594.3(SPRED1):c.177dup (p.Ile60fs)
|
rs1895110802
|
|
|
NM_152594.3(SPRED1):c.190C>T (p.Arg64Ter)
|
rs121434315
|
|
|
NM_152594.3(SPRED1):c.229A>T (p.Lys77Ter)
|
rs727504170
|
|
|
NM_152594.3(SPRED1):c.234dup (p.Asp79fs)
|
rs1566867209
|
|
|
NM_152594.3(SPRED1):c.272del (p.His91fs)
|
|
|
|
NM_152594.3(SPRED1):c.291del (p.Lys98fs)
|
|
|
|
NM_152594.3(SPRED1):c.301_307del (p.Leu101fs)
|
rs1566867246
|
|
|
NM_152594.3(SPRED1):c.305C>G (p.Thr102Arg)
|
rs754706111
|
|
|
NM_152594.3(SPRED1):c.305del (p.Thr102fs)
|
rs2140994872
|
|
|
NM_152594.3(SPRED1):c.306_307dup (p.Phe103fs)
|
rs1595746834
|
|
|
NM_152594.3(SPRED1):c.326_329dup (p.Arg110delinsSerTer)
|
rs1595746858
|
|
|
NM_152594.3(SPRED1):c.328del (p.Arg110fs)
|
|
|
|
NM_152594.3(SPRED1):c.342_343del (p.Gly115fs)
|
rs1555391061
|
|
|
NM_152594.3(SPRED1):c.342_349dup (p.Arg117fs)
|
|
|
|
NM_152594.3(SPRED1):c.349C>T (p.Arg117Ter)
|
rs121434312
|
|
|
NM_152594.3(SPRED1):c.355dup (p.Ala119fs)
|
rs1895621783
|
|
|
NM_152594.3(SPRED1):c.384dup (p.Glu129fs)
|
rs1566868022
|
|
|
NM_152594.3(SPRED1):c.385G>T (p.Glu129Ter)
|
rs764823722
|
|
|
NM_152594.3(SPRED1):c.395dup (p.Asn132fs)
|
rs1895677481
|
|
|
NM_152594.3(SPRED1):c.3G>A (p.Met1Ile)
|
rs1324903101
|
|
|
NM_152594.3(SPRED1):c.408_409dup (p.Ala137fs)
|
|
|
|
NM_152594.3(SPRED1):c.40del (p.Tyr14fs)
|
rs2140978331
|
|
|
NM_152594.3(SPRED1):c.421C>T (p.Gln141Ter)
|
rs1060502505
|
|
|
NM_152594.3(SPRED1):c.42T>G (p.Tyr14Ter)
|
|
|
|
NM_152594.3(SPRED1):c.461del (p.Asp154fs)
|
|
|
|
NM_152594.3(SPRED1):c.490_491dup (p.Ser165fs)
|
|
|
|
NM_152594.3(SPRED1):c.52C>T (p.Arg18Ter)
|
rs750777752
|
|
|
NM_152594.3(SPRED1):c.565C>T (p.Gln189Ter)
|
|
|
|
NM_152594.3(SPRED1):c.613C>T (p.Gln205Ter)
|
rs2141014847
|
|
|
NM_152594.3(SPRED1):c.619A>T (p.Arg207Ter)
|
rs368660900
|
|
|
NM_152594.3(SPRED1):c.637C>T (p.Gln213Ter)
|
rs121434316
|
|
|
NM_152594.3(SPRED1):c.676C>T (p.Gln226Ter)
|
rs1555392609
|
|
|
NM_152594.3(SPRED1):c.684+1G>T
|
|
|
|
NM_152594.3(SPRED1):c.692del (p.Pro230_Leu231insTer)
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rs2141016007
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NM_152594.3(SPRED1):c.696del (p.Lys232fs)
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NM_152594.3(SPRED1):c.719_725del (p.Gln240fs)
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NM_152594.3(SPRED1):c.724G>T (p.Glu242Ter)
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NM_152594.3(SPRED1):c.783C>A (p.Tyr261Ter)
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rs1888473716
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NM_152594.3(SPRED1):c.794dup (p.Asp265fs)
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rs2141016108
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NM_152594.3(SPRED1):c.796_797del (p.Met266fs)
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rs864622410
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NM_152594.3(SPRED1):c.800G>A (p.Trp267Ter)
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rs1595763557
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NM_152594.3(SPRED1):c.841C>T (p.Gln281Ter)
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rs755557783
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NM_152594.3(SPRED1):c.867dup (p.Ser290fs)
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NM_152594.3(SPRED1):c.900dup (p.Lys301Ter)
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rs1595763656
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NM_152594.3(SPRED1):c.903_906del (p.Leu302fs)
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rs1595763662
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NM_152594.3(SPRED1):c.906_910del (p.Leu302fs)
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rs1595763659
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NM_152594.3(SPRED1):c.923_924del (p.Ser308fs)
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rs1555392759
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NM_152594.3(SPRED1):c.96_97insT (p.Pro33fs)
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NM_152594.3(SPRED1):c.973C>T (p.Arg325Ter)
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rs1057518683
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Single allele
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