|
NM_001042492.3(NF1):c.3496+19T>C
|
rs9890283
|
0.00628
|
|
NM_001042492.3(NF1):c.3498C>T (p.Gly1166=)
|
rs2066733
|
0.00392
|
|
NM_001042492.3(NF1):c.-22G>C
|
rs556823296
|
0.00381
|
|
NM_001042492.3(NF1):c.528T>A (p.Asp176Glu)
|
rs112306990
|
0.00380
|
|
NM_001042492.3(NF1):c.3198-4T>C
|
rs587782218
|
0.00365
|
|
NM_001042492.3(NF1):c.5235G>A (p.Lys1745=)
|
rs17887014
|
0.00305
|
|
NM_001042492.3(NF1):c.340C>T (p.Leu114=)
|
rs7207410
|
0.00283
|
|
NM_001042492.3(NF1):c.846G>A (p.Gln282=)
|
rs138840528
|
0.00237
|
|
NM_001042492.3(NF1):c.4269A>G (p.Glu1423=)
|
rs17886566
|
0.00220
|
|
NM_001042492.3(NF1):c.4836-21229G>C
|
rs17884293
|
0.00215
|
|
NM_001042492.3(NF1):c.1994C>T (p.Ser665Phe)
|
rs145891889
|
0.00197
|
|
NM_001042492.3(NF1):c.5035A>G (p.Ile1679Val)
|
rs147327414
|
0.00195
|
|
NM_001042492.3(NF1):c.7584A>G (p.Gln2528=)
|
rs55865524
|
0.00125
|
|
NM_001042492.3(NF1):c.1810T>C (p.Leu604=)
|
rs142712751
|
0.00123
|
|
NM_001042492.3(NF1):c.4577+11C>G
|
rs190614908
|
0.00123
|
|
NM_001042492.3(NF1):c.3867C>T (p.Phe1289=)
|
rs138186428
|
0.00088
|
|
NM_001042492.3(NF1):c.3468C>T (p.Asn1156=)
|
rs147955381
|
0.00083
|
|
NM_001042492.3(NF1):c.3270A>C (p.Gly1090=)
|
rs150015024
|
0.00079
|
|
NM_001042492.3(NF1):c.7595C>T (p.Ala2532Val)
|
rs148154172
|
0.00066
|
|
NM_001042492.3(NF1):c.7410T>C (p.Asn2470=)
|
rs17881903
|
0.00052
|
|
NM_001042492.3(NF1):c.7461A>G (p.Thr2487=)
|
rs149924365
|
0.00052
|
|
NM_001042492.3(NF1):c.369C>G (p.Thr123=)
|
rs146691765
|
0.00037
|
|
NM_001042492.3(NF1):c.731-6A>C
|
rs369366499
|
0.00037
|
|
NM_001042492.3(NF1):c.4851A>G (p.Gln1617=)
|
rs150309802
|
0.00032
|
|
NM_001042492.3(NF1):c.1137C>T (p.Cys379=)
|
rs139648455
|
0.00031
|
|
NM_001042492.3(NF1):c.6922-16A>G
|
rs202158964
|
0.00030
|
|
NM_001042492.3(NF1):c.7322-16A>G
|
rs369168102
|
0.00029
|
|
NM_001042492.3(NF1):c.8041A>G (p.Ile2681Val)
|
rs146315101
|
0.00029
|
|
NM_001042492.3(NF1):c.8499T>C (p.Asn2833=)
|
rs142636150
|
0.00027
|
|
NM_001042492.3(NF1):c.7554C>G (p.Ala2518=)
|
rs141897690
|
0.00023
|
|
NM_001042492.3(NF1):c.4749A>G (p.Glu1583=)
|
rs144091165
|
0.00018
|
|
NM_001042492.3(NF1):c.1032A>G (p.Leu344=)
|
rs199832006
|
0.00017
|
|
NM_001042492.3(NF1):c.6172A>G (p.Ile2058Val)
|
rs201712827
|
0.00017
|
|
NM_001042492.3(NF1):c.3672G>A (p.Ala1224=)
|
rs151293900
|
0.00016
|
|
NM_001042492.3(NF1):c.107C>G (p.Thr36Ser)
|
rs199966218
|
0.00015
|
|
NM_001042492.3(NF1):c.3436G>A (p.Val1146Ile)
|
rs201047812
|
0.00015
|
|
NM_001042492.3(NF1):c.6929C>T (p.Pro2310Leu)
|
rs148736217
|
0.00015
|
|
NM_001042492.3(NF1):c.7368A>G (p.Lys2456=)
|
rs201287021
|
0.00014
|
|
NM_001042492.3(NF1):c.2032C>G (p.Pro678Ala)
|
rs758691069
|
0.00013
|
|
NM_001042492.3(NF1):c.7026G>A (p.Leu2342=)
|
rs371581213
|
0.00013
|
|
NM_001042492.3(NF1):c.5049C>T (p.Asn1683=)
|
rs140994965
|
0.00012
|
|
NM_001042492.3(NF1):c.1599C>G (p.Val533=)
|
rs369458366
|
0.00011
|
|
NM_001042492.3(NF1):c.2178G>C (p.Val726=)
|
rs369590240
|
0.00011
|
|
NM_001042492.3(NF1):c.7354C>T (p.Arg2452Cys)
|
rs377662483
|
0.00011
|
|
NM_001042492.3(NF1):c.960T>A (p.Ala320=)
|
rs376447070
|
0.00011
|
|
NM_001042492.3(NF1):c.2541T>C (p.Leu847=)
|
rs147433258
|
0.00009
|
|
NM_001042492.3(NF1):c.4724+11A>G
|
rs368649260
|
0.00009
|
|
NM_001042492.3(NF1):c.5513C>G (p.Ser1838Cys)
|
rs368654378
|
0.00009
|
|
NM_001042492.3(NF1):c.5757G>A (p.Glu1919=)
|
rs141077224
|
0.00008
|
|
NM_001042492.3(NF1):c.6171A>T (p.Ile2057=)
|
rs140733963
|
0.00008
|
|
NM_001042492.3(NF1):c.1392+6A>T
|
rs200798969
|
0.00007
|
|
NM_001042492.3(NF1):c.4836-3T>C
|
rs372460369
|
0.00007
|
|
NM_001042492.3(NF1):c.4943C>T (p.Thr1648Ile)
|
rs376655102
|
0.00007
|
|
NM_001042492.3(NF1):c.3217A>G (p.Met1073Val)
|
rs199474740
|
0.00006
|
|
NM_001042492.3(NF1):c.6033A>G (p.Leu2011=)
|
rs147995863
|
0.00006
|
|
NM_001042492.3(NF1):c.7006G>A (p.Ala2336Thr)
|
rs587781428
|
0.00006
|
|
NM_001042492.3(NF1):c.8395G>A (p.Val2799Ile)
|
rs377393842
|
0.00006
|
|
NM_001042492.3(NF1):c.1166A>G (p.His389Arg)
|
rs149739570
|
0.00005
|
|
NM_001042492.3(NF1):c.1588G>A (p.Val530Ile)
|
rs145191978
|
0.00005
|
|
NM_001042492.3(NF1):c.1894T>A (p.Cys632Ser)
|
rs370789267
|
0.00005
|
|
NM_001042492.3(NF1):c.2188A>T (p.Asn730Tyr)
|
rs758893131
|
0.00005
|
|
NM_001042492.3(NF1):c.3213A>G (p.Ala1071=)
|
rs786202077
|
0.00005
|
|
NM_001042492.3(NF1):c.4207G>A (p.Gly1403Ser)
|
rs138227618
|
0.00005
|
|
NM_001042492.3(NF1):c.7870-8C>A
|
rs372441422
|
0.00005
|
|
NM_001042492.3(NF1):c.8238T>G (p.Ile2746Met)
|
rs779789452
|
0.00005
|
|
NM_001042492.3(NF1):c.231A>T (p.Lys77Asn)
|
rs373563053
|
0.00004
|
|
NM_001042492.3(NF1):c.3358G>C (p.Val1120Leu)
|
rs200594167
|
0.00004
|
|
NM_001042492.3(NF1):c.3883A>G (p.Thr1295Ala)
|
rs143836226
|
0.00004
|
|
NM_001042492.3(NF1):c.4445T>C (p.Ile1482Thr)
|
rs746994734
|
0.00004
|
|
NM_001042492.3(NF1):c.5160G>T (p.Glu1720Asp)
|
rs773378630
|
0.00004
|
|
NM_001042492.3(NF1):c.5255A>G (p.Lys1752Arg)
|
rs864622373
|
0.00004
|
|
NM_001042492.3(NF1):c.5812+8A>G
|
rs372075322
|
0.00004
|
|
NM_001042492.3(NF1):c.7046G>A (p.Arg2349His)
|
rs864622065
|
0.00004
|
|
NM_001042492.3(NF1):c.7528A>G (p.Thr2510Ala)
|
rs145794301
|
0.00004
|
|
NM_001042492.3(NF1):c.8490C>A (p.Phe2830Leu)
|
rs760550772
|
0.00004
|
|
NM_001042492.3(NF1):c.*4T>C
|
rs201044568
|
0.00003
|
|
NM_001042492.3(NF1):c.100G>A (p.Val34Ile)
|
rs772995929
|
0.00003
|
|
NM_001042492.3(NF1):c.1308G>A (p.Ser436=)
|
rs765425127
|
0.00003
|
|
NM_001042492.3(NF1):c.134A>G (p.Asn45Ser)
|
rs753189381
|
0.00003
|
|
NM_001042492.3(NF1):c.169G>A (p.Gly57Ser)
|
rs779727341
|
0.00003
|
|
NM_001042492.3(NF1):c.1975C>T (p.Arg659Trp)
|
rs757512142
|
0.00003
|
|
NM_001042492.3(NF1):c.2570A>G (p.Asn857Ser)
|
rs1060500299
|
0.00003
|
|
NM_001042492.3(NF1):c.2585C>G (p.Thr862Ser)
|
rs200302954
|
0.00003
|
|
NM_001042492.3(NF1):c.2747A>G (p.Asn916Ser)
|
rs765043916
|
0.00003
|
|
NM_001042492.3(NF1):c.2821A>G (p.Ile941Val)
|
rs876659888
|
0.00003
|
|
NM_001042492.3(NF1):c.2999G>A (p.Arg1000His)
|
rs753082620
|
0.00003
|
|
NM_001042492.3(NF1):c.3145G>A (p.Val1049Ile)
|
rs1060500343
|
0.00003
|
|
NM_001042492.3(NF1):c.3604G>T (p.Ala1202Ser)
|
rs146641724
|
0.00003
|
|
NM_001042492.3(NF1):c.3947A>G (p.His1316Arg)
|
rs751023085
|
0.00003
|
|
NM_001042492.3(NF1):c.3975-12A>G
|
rs750100751
|
0.00003
|
|
NM_001042492.3(NF1):c.4835+5G>C
|
rs786201306
|
0.00003
|
|
NM_001042492.3(NF1):c.5793T>C (p.Ile1931=)
|
rs779114598
|
0.00003
|
|
NM_001042492.3(NF1):c.6082G>A (p.Ala2028Thr)
|
rs767869530
|
0.00003
|
|
NM_001042492.3(NF1):c.6781C>T (p.His2261Tyr)
|
rs750869272
|
0.00003
|
|
NM_001042492.3(NF1):c.696A>G (p.Thr232=)
|
rs368691517
|
0.00003
|
|
NM_001042492.3(NF1):c.7003A>G (p.Thr2335Ala)
|
rs370209920
|
0.00003
|
|
NM_001042492.3(NF1):c.7910G>A (p.Arg2637Gln)
|
rs560262404
|
0.00003
|
|
NM_001042492.3(NF1):c.8216T>C (p.Ile2739Thr)
|
rs752541243
|
0.00003
|
|
NM_001042492.3(NF1):c.8479G>T (p.Ala2827Ser)
|
rs199878086
|
0.00003
|
|
NM_001042492.3(NF1):c.864G>C (p.Val288=)
|
rs201181517
|
0.00003
|
|
NM_001042492.3(NF1):c.1223A>G (p.Tyr408Cys)
|
rs876660344
|
0.00002
|
|
NM_001042492.3(NF1):c.145T>A (p.Tyr49Asn)
|
rs764367878
|
0.00002
|
|
NM_001042492.3(NF1):c.1472A>G (p.Tyr491Cys)
|
rs199474757
|
0.00002
|
|
NM_001042492.3(NF1):c.1620G>T (p.Glu540Asp)
|
rs766748586
|
0.00002
|
|
NM_001042492.3(NF1):c.1901T>C (p.Ile634Thr)
|
rs527563505
|
0.00002
|
|
NM_001042492.3(NF1):c.1939C>T (p.His647Tyr)
|
rs776251084
|
0.00002
|
|
NM_001042492.3(NF1):c.1955G>A (p.Arg652His)
|
rs587778549
|
0.00002
|
|
NM_001042492.3(NF1):c.2023G>A (p.Gly675Arg)
|
rs779546178
|
0.00002
|
|
NM_001042492.3(NF1):c.2282C>T (p.Ala761Val)
|
rs746850653
|
0.00002
|
|
NM_001042492.3(NF1):c.2294G>A (p.Arg765His)
|
rs199474777
|
0.00002
|
|
NM_001042492.3(NF1):c.2617C>T (p.Arg873Cys)
|
rs199474739
|
0.00002
|
|
NM_001042492.3(NF1):c.3374C>T (p.Ala1125Val)
|
rs902739109
|
0.00002
|
|
NM_001042492.3(NF1):c.367A>G (p.Thr123Ala)
|
rs587781757
|
0.00002
|
|
NM_001042492.3(NF1):c.4009C>T (p.Arg1337Trp)
|
rs146306756
|
0.00002
|
|
NM_001042492.3(NF1):c.4185G>T (p.Gln1395His)
|
rs775206746
|
0.00002
|
|
NM_001042492.3(NF1):c.4219A>G (p.Ser1407Gly)
|
rs587781755
|
0.00002
|
|
NM_001042492.3(NF1):c.4262C>T (p.Pro1421Leu)
|
rs753997885
|
0.00002
|
|
NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu)
|
rs137854550
|
0.00002
|
|
NM_001042492.3(NF1):c.4357G>A (p.Val1453Ile)
|
rs199474755
|
0.00002
|
|
NM_001042492.3(NF1):c.4426C>T (p.Arg1476Cys)
|
rs771420960
|
0.00002
|
|
NM_001042492.3(NF1):c.4657C>G (p.Pro1553Ala)
|
rs1033427343
|
0.00002
|
|
NM_001042492.3(NF1):c.512A>G (p.Asn171Ser)
|
rs767500770
|
0.00002
|
|
NM_001042492.3(NF1):c.5225A>G (p.Asn1742Ser)
|
rs745407845
|
0.00002
|
|
NM_001042492.3(NF1):c.5263A>G (p.Ile1755Val)
|
rs370181275
|
0.00002
|
|
NM_001042492.3(NF1):c.5423C>T (p.Thr1808Met)
|
rs760649828
|
0.00002
|
|
NM_001042492.3(NF1):c.623C>T (p.Ala208Val)
|
rs758624540
|
0.00002
|
|
NM_001042492.3(NF1):c.6851C>T (p.Thr2284Ile)
|
rs747881072
|
0.00002
|
|
NM_001042492.3(NF1):c.7087A>G (p.Ile2363Val)
|
rs137966859
|
0.00002
|
|
NM_001042492.3(NF1):c.7457+8G>T
|
rs376147282
|
0.00002
|
|
NM_001042492.3(NF1):c.7484C>T (p.Ser2495Phe)
|
rs757245615
|
0.00002
|
|
NM_001042492.3(NF1):c.7523A>G (p.Tyr2508Cys)
|
rs762169098
|
0.00002
|
|
NM_001042492.3(NF1):c.7838C>T (p.Pro2613Leu)
|
rs750972729
|
0.00002
|
|
NM_001042492.3(NF1):c.7869+6G>A
|
rs864622318
|
0.00002
|
|
NM_001042492.3(NF1):c.8073T>G (p.His2691Gln)
|
rs375468032
|
0.00002
|
|
NM_001042492.3(NF1):c.8456G>A (p.Ser2819Asn)
|
rs934837854
|
0.00002
|
|
NM_001042492.3(NF1):c.847G>T (p.Asp283Tyr)
|
rs200572531
|
0.00002
|
|
NM_001042492.3(NF1):c.8494C>T (p.Arg2832Cys)
|
rs587782893
|
0.00002
|
|
NM_001042492.3(NF1):c.1004A>G (p.Asn335Ser)
|
rs758212945
|
0.00001
|
|
NM_001042492.3(NF1):c.1062+6A>G
|
rs1060500291
|
0.00001
|
|
NM_001042492.3(NF1):c.1130T>C (p.Ile377Thr)
|
rs878853863
|
0.00001
|
|
NM_001042492.3(NF1):c.1138C>T (p.Leu380Phe)
|
rs1426127948
|
0.00001
|
|
NM_001042492.3(NF1):c.1153C>T (p.Arg385Cys)
|
rs1322986962
|
0.00001
|
|
NM_001042492.3(NF1):c.1213A>G (p.Thr405Ala)
|
rs587782233
|
0.00001
|
|
NM_001042492.3(NF1):c.1241T>G (p.Leu414Arg)
|
rs1334926587
|
0.00001
|
|
NM_001042492.3(NF1):c.1247G>A (p.Arg416Gln)
|
rs1343309278
|
0.00001
|
|
NM_001042492.3(NF1):c.1264G>A (p.Ala422Thr)
|
rs786202145
|
0.00001
|
|
NM_001042492.3(NF1):c.1319G>A (p.Arg440Gln)
|
rs1466678870
|
0.00001
|
|
NM_001042492.3(NF1):c.1370A>T (p.His457Leu)
|
rs786202763
|
0.00001
|
|
NM_001042492.3(NF1):c.1392G>A (p.Pro464=)
|
rs201604273
|
0.00001
|
|
NM_001042492.3(NF1):c.1413A>G (p.Lys471=)
|
rs1309932338
|
0.00001
|
|
NM_001042492.3(NF1):c.1444A>G (p.Thr482Ala)
|
rs770201871
|
0.00001
|
|
NM_001042492.3(NF1):c.1549G>A (p.Glu517Lys)
|
rs587778548
|
0.00001
|
|
NM_001042492.3(NF1):c.1553C>T (p.Thr518Ile)
|
rs587782696
|
0.00001
|
|
NM_001042492.3(NF1):c.1756A>C (p.Thr586Pro)
|
rs876659242
|
0.00001
|
|
NM_001042492.3(NF1):c.1769T>C (p.Met590Thr)
|
rs761559887
|
0.00001
|
|
NM_001042492.3(NF1):c.178A>G (p.Thr60Ala)
|
rs546729596
|
0.00001
|
|
NM_001042492.3(NF1):c.1801C>T (p.Arg601Trp)
|
rs587782592
|
0.00001
|
|
NM_001042492.3(NF1):c.1846-8T>A
|
rs886052799
|
0.00001
|
|
NM_001042492.3(NF1):c.1870T>C (p.Phe624Leu)
|
rs765060733
|
0.00001
|
|
NM_001042492.3(NF1):c.1891G>A (p.Gly631Arg)
|
rs757424379
|
0.00001
|
|
NM_001042492.3(NF1):c.1907C>G (p.Ser636Cys)
|
rs780412565
|
0.00001
|
|
NM_001042492.3(NF1):c.1921A>G (p.Ser641Gly)
|
rs769154907
|
0.00001
|
|
NM_001042492.3(NF1):c.1936G>T (p.Asp646Tyr)
|
rs142079728
|
0.00001
|
|
NM_001042492.3(NF1):c.1960C>T (p.Pro654Ser)
|
rs765281937
|
0.00001
|
|
NM_001042492.3(NF1):c.1985A>G (p.Lys662Arg)
|
rs578141234
|
0.00001
|
|
NM_001042492.3(NF1):c.1987G>A (p.Gly663Arg)
|
rs140653372
|
0.00001
|
|
NM_001042492.3(NF1):c.1999A>G (p.Met667Val)
|
rs749833271
|
0.00001
|
|
NM_001042492.3(NF1):c.2054C>G (p.Thr685Ser)
|
rs876658190
|
0.00001
|
|
NM_001042492.3(NF1):c.2065G>A (p.Val689Met)
|
rs771784652
|
0.00001
|
|
NM_001042492.3(NF1):c.2097C>T (p.Asp699=)
|
rs547905840
|
0.00001
|
|
NM_001042492.3(NF1):c.212T>C (p.Phe71Ser)
|
rs752396270
|
0.00001
|
|
NM_001042492.3(NF1):c.2156T>C (p.Ile719Thr)
|
rs754025938
|
0.00001
|
|
NM_001042492.3(NF1):c.2158C>T (p.Arg720Trp)
|
rs759679443
|
0.00001
|
|
NM_001042492.3(NF1):c.2159G>A (p.Arg720Gln)
|
rs1350468182
|
0.00001
|
|
NM_001042492.3(NF1):c.2244G>A (p.Met748Ile)
|
rs786202478
|
0.00001
|
|
NM_001042492.3(NF1):c.2248A>G (p.Thr750Ala)
|
rs748064845
|
0.00001
|
|
NM_001042492.3(NF1):c.2251+5A>G
|
rs786201934
|
0.00001
|
|
NM_001042492.3(NF1):c.2257G>A (p.Ala753Thr)
|
rs758325102
|
0.00001
|
|
NM_001042492.3(NF1):c.2342A>T (p.His781Leu)
|
rs199474763
|
0.00001
|
|
NM_001042492.3(NF1):c.2350T>C (p.Trp784Arg)
|
rs199474730
|
0.00001
|
|
NM_001042492.3(NF1):c.2378A>C (p.Asn793Thr)
|
rs772543826
|
0.00001
|
|
NM_001042492.3(NF1):c.2409+5G>A
|
rs763688567
|
0.00001
|
|
NM_001042492.3(NF1):c.2410-8G>A
|
rs1060500270
|
0.00001
|
|
NM_001042492.3(NF1):c.2434A>C (p.Ile812Leu)
|
rs587781899
|
0.00001
|
|
NM_001042492.3(NF1):c.2476A>C (p.Ile826Leu)
|
rs767069721
|
0.00001
|
|
NM_001042492.3(NF1):c.256A>G (p.Ile86Val)
|
rs757057811
|
0.00001
|
|
NM_001042492.3(NF1):c.2573C>G (p.Ser858Cys)
|
rs369493270
|
0.00001
|
|
NM_001042492.3(NF1):c.2581G>C (p.Ala861Pro)
|
rs768425956
|
0.00001
|
|
NM_001042492.3(NF1):c.2597C>T (p.Pro866Leu)
|
rs767159555
|
0.00001
|
|
NM_001042492.3(NF1):c.2618G>A (p.Arg873His)
|
rs949092641
|
0.00001
|
|
NM_001042492.3(NF1):c.2623G>A (p.Gly875Ser)
|
rs754734571
|
0.00001
|
|
NM_001042492.3(NF1):c.2629A>G (p.Met877Val)
|
rs764950557
|
0.00001
|
|
NM_001042492.3(NF1):c.2633T>C (p.Ile878Thr)
|
rs372049168
|
0.00001
|
|
NM_001042492.3(NF1):c.2643G>A (p.Met881Ile)
|
rs376666221
|
0.00001
|
|
NM_001042492.3(NF1):c.2659G>A (p.Ala887Thr)
|
rs1251621684
|
0.00001
|
|
NM_001042492.3(NF1):c.2666C>G (p.Thr889Arg)
|
rs369912079
|
0.00001
|
|
NM_001042492.3(NF1):c.2689C>T (p.Arg897Trp)
|
rs775949348
|
0.00001
|
|
NM_001042492.3(NF1):c.2741G>A (p.Arg914Gln)
|
rs776447057
|
0.00001
|
|
NM_001042492.3(NF1):c.2749G>A (p.Val917Ile)
|
rs752455591
|
0.00001
|
|
NM_001042492.3(NF1):c.278G>A (p.Cys93Tyr)
|
rs199474728
|
0.00001
|
|
NM_001042492.3(NF1):c.2794A>G (p.Met932Val)
|
rs886052800
|
0.00001
|
|
NM_001042492.3(NF1):c.2803A>C (p.Asn935His)
|
rs786201823
|
0.00001
|
|
NM_001042492.3(NF1):c.2902A>G (p.Met968Val)
|
rs587781499
|
0.00001
|
|
NM_001042492.3(NF1):c.2998C>T (p.Arg1000Cys)
|
rs367684252
|
0.00001
|
|
NM_001042492.3(NF1):c.3013A>G (p.Met1005Val)
|
rs1555614502
|
0.00001
|
|
NM_001042492.3(NF1):c.3039G>A (p.Thr1013=)
|
rs876660168
|
0.00001
|
|
NM_001042492.3(NF1):c.3062T>G (p.Val1021Gly)
|
rs1355411201
|
0.00001
|
|
NM_001042492.3(NF1):c.3103A>G (p.Met1035Val)
|
rs771694969
|
0.00001
|
|
NM_001042492.3(NF1):c.323T>C (p.Met108Thr)
|
rs780233935
|
0.00001
|
|
NM_001042492.3(NF1):c.3303G>A (p.Gln1101=)
|
rs876659944
|
0.00001
|
|
NM_001042492.3(NF1):c.3315-5C>T
|
rs1266211447
|
0.00001
|
|
NM_001042492.3(NF1):c.3330T>A (p.Phe1110Leu)
|
rs1256152851
|
0.00001
|
|
NM_001042492.3(NF1):c.3359T>C (p.Val1120Ala)
|
rs751571517
|
0.00001
|
|
NM_001042492.3(NF1):c.3362A>G (p.Glu1121Gly)
|
rs757222815
|
0.00001
|
|
NM_001042492.3(NF1):c.3394C>T (p.Arg1132Cys)
|
rs587781725
|
0.00001
|
|
NM_001042492.3(NF1):c.3461A>G (p.Asn1154Ser)
|
rs371544233
|
0.00001
|
|
NM_001042492.3(NF1):c.3469G>A (p.Val1157Ile)
|
rs375845704
|
0.00001
|
|
NM_001042492.3(NF1):c.3485T>G (p.Met1162Arg)
|
rs200732832
|
0.00001
|
|
NM_001042492.3(NF1):c.348A>T (p.Glu116Asp)
|
rs1231174547
|
0.00001
|
|
NM_001042492.3(NF1):c.3527G>T (p.Arg1176Ile)
|
rs1227027709
|
0.00001
|
|
NM_001042492.3(NF1):c.354C>T (p.Cys118=)
|
rs768777585
|
0.00001
|
|
NM_001042492.3(NF1):c.3590C>G (p.Ala1197Gly)
|
rs370820478
|
0.00001
|
|
NM_001042492.3(NF1):c.3610C>T (p.Arg1204Trp)
|
rs199474732
|
0.00001
|
|
NM_001042492.3(NF1):c.3694C>T (p.Pro1232Ser)
|
rs1482085668
|
0.00001
|
|
NM_001042492.3(NF1):c.3722G>A (p.Arg1241Gln)
|
rs543387071
|
0.00001
|
|
NM_001042492.3(NF1):c.3748C>T (p.Arg1250Trp)
|
rs1452005208
|
0.00001
|
|
NM_001042492.3(NF1):c.3749G>A (p.Arg1250Gln)
|
rs199474765
|
0.00001
|
|
NM_001042492.3(NF1):c.374G>A (p.Arg125His)
|
rs149003051
|
0.00001
|
|
NM_001042492.3(NF1):c.3779T>C (p.Met1260Thr)
|
rs1555615463
|
0.00001
|
|
NM_001042492.3(NF1):c.3811A>G (p.Met1271Val)
|
rs746583007
|
0.00001
|
|
NM_001042492.3(NF1):c.3826C>G (p.Arg1276Gly)
|
rs199474742
|
0.00001
|
|
NM_001042492.3(NF1):c.3891A>G (p.Leu1297=)
|
rs753036396
|
0.00001
|
|
NM_001042492.3(NF1):c.3906T>G (p.Asp1302Glu)
|
rs549058591
|
0.00001
|
|
NM_001042492.3(NF1):c.3911T>C (p.Leu1304Ser)
|
rs761512189
|
0.00001
|
|
NM_001042492.3(NF1):c.3970A>G (p.Thr1324Ala)
|
rs189522993
|
0.00001
|
|
NM_001042492.3(NF1):c.3974+9T>A
|
rs368586596
|
0.00001
|
|
NM_001042492.3(NF1):c.3976T>A (p.Leu1326Ile)
|
rs765957571
|
0.00001
|
|
NM_001042492.3(NF1):c.3989A>C (p.Glu1330Ala)
|
rs1256727206
|
0.00001
|
|
NM_001042492.3(NF1):c.4000G>A (p.Glu1334Lys)
|
rs878853892
|
0.00001
|
|
NM_001042492.3(NF1):c.403C>T (p.Arg135Trp)
|
rs775191883
|
0.00001
|
|
NM_001042492.3(NF1):c.4046C>A (p.Ala1349Asp)
|
rs1229215269
|
0.00001
|
|
NM_001042492.3(NF1):c.404G>A (p.Arg135Gln)
|
rs1060500244
|
0.00001
|
|
NM_001042492.3(NF1):c.4055G>C (p.Ser1352Thr)
|
rs876660908
|
0.00001
|
|
NM_001042492.3(NF1):c.4085G>A (p.Arg1362Gln)
|
rs540108477
|
0.00001
|
|
NM_001042492.3(NF1):c.4098C>G (p.His1366Gln)
|
rs1555617377
|
0.00001
|
|
NM_001042492.3(NF1):c.4110+4T>C
|
rs587781700
|
0.00001
|
|
NM_001042492.3(NF1):c.4187G>A (p.Arg1396His)
|
rs368685980
|
0.00001
|
|
NM_001042492.3(NF1):c.4201A>T (p.Ser1401Cys)
|
rs1060500310
|
0.00001
|
|
NM_001042492.3(NF1):c.4306G>A (p.Glu1436Lys)
|
rs876660428
|
0.00001
|
|
NM_001042492.3(NF1):c.4352A>G (p.Asn1451Ser)
|
rs199474754
|
0.00001
|
|
NM_001042492.3(NF1):c.4373A>G (p.Glu1458Gly)
|
rs878853894
|
0.00001
|
|
NM_001042492.3(NF1):c.4384C>T (p.Arg1462Trp)
|
rs876658127
|
0.00001
|
|
NM_001042492.3(NF1):c.4385G>A (p.Arg1462Gln)
|
rs370852681
|
0.00001
|
|
NM_001042492.3(NF1):c.4409G>A (p.Ser1470Asn)
|
rs876660093
|
0.00001
|
|
NM_001042492.3(NF1):c.4421C>T (p.Ala1474Val)
|
rs587781553
|
0.00001
|
|
NM_001042492.3(NF1):c.4495A>G (p.Ile1499Val)
|
rs764654925
|
0.00001
|
|
NM_001042492.3(NF1):c.4503C>T (p.Asp1501=)
|
rs577394398
|
0.00001
|
|
NM_001042492.3(NF1):c.4504G>A (p.Gly1502Ser)
|
rs876659607
|
0.00001
|
|
NM_001042492.3(NF1):c.4507A>C (p.Asn1503His)
|
rs1555618837
|
0.00001
|
|
NM_001042492.3(NF1):c.4508A>G (p.Asn1503Ser)
|
rs587781445
|
0.00001
|
|
NM_001042492.3(NF1):c.451A>C (p.Asn151His)
|
rs769391944
|
0.00001
|
|
NM_001042492.3(NF1):c.452A>G (p.Asn151Ser)
|
rs1567817981
|
0.00001
|
|
NM_001042492.3(NF1):c.4577+3A>G
|
rs1060500246
|
0.00001
|
|
NM_001042492.3(NF1):c.4600C>T (p.Arg1534Ter)
|
rs760703505
|
0.00001
|
|
NM_001042492.3(NF1):c.4601G>A (p.Arg1534Gln)
|
rs867955218
|
0.00001
|
|
NM_001042492.3(NF1):c.4682G>A (p.Ser1561Asn)
|
rs751414513
|
0.00001
|
|
NM_001042492.3(NF1):c.4724+3A>G
|
rs781147524
|
0.00001
|
|
NM_001042492.3(NF1):c.4766C>T (p.Thr1589Met)
|
rs185660700
|
0.00001
|
|
NM_001042492.3(NF1):c.4813A>G (p.Ile1605Val)
|
rs199474766
|
0.00001
|
|
NM_001042492.3(NF1):c.4957C>T (p.Arg1653Cys)
|
rs876659922
|
0.00001
|
|
NM_001042492.3(NF1):c.5087T>C (p.Leu1696Pro)
|
rs745489489
|
0.00001
|
|
NM_001042492.3(NF1):c.5098C>T (p.Leu1700Phe)
|
rs775786295
|
0.00001
|
|
NM_001042492.3(NF1):c.5115G>C (p.Arg1705Ser)
|
rs749669269
|
0.00001
|
|
NM_001042492.3(NF1):c.5125A>G (p.Ile1709Val)
|
rs774720054
|
0.00001
|
|
NM_001042492.3(NF1):c.5167C>G (p.Gln1723Glu)
|
rs766727694
|
0.00001
|
|
NM_001042492.3(NF1):c.5270T>C (p.Val1757Ala)
|
rs1021835871
|
0.00001
|
|
NM_001042492.3(NF1):c.5289A>G (p.Gln1763=)
|
rs199703296
|
0.00001
|
|
NM_001042492.3(NF1):c.5290G>A (p.Val1764Ile)
|
rs778427434
|
0.00001
|
|
NM_001042492.3(NF1):c.5293A>G (p.Thr1765Ala)
|
rs747584987
|
0.00001
|
|
NM_001042492.3(NF1):c.5299G>A (p.Ala1767Thr)
|
rs529905904
|
0.00001
|
|
NM_001042492.3(NF1):c.529A>G (p.Ile177Val)
|
rs766213678
|
0.00001
|
|
NM_001042492.3(NF1):c.5344A>G (p.Ile1782Val)
|
rs1160436761
|
0.00001
|
|
NM_001042492.3(NF1):c.5351A>T (p.Tyr1784Phe)
|
rs1060500280
|
0.00001
|
|
NM_001042492.3(NF1):c.5381T>C (p.Val1794Ala)
|
rs142867979
|
0.00001
|
|
NM_001042492.3(NF1):c.5407A>G (p.Ile1803Val)
|
rs559910904
|
0.00001
|
|
NM_001042492.3(NF1):c.5458A>C (p.Ile1820Leu)
|
rs786202459
|
0.00001
|
|
NM_001042492.3(NF1):c.5470A>G (p.Ile1824Val)
|
rs370858405
|
0.00001
|
|
NM_001042492.3(NF1):c.5482C>T (p.Arg1828Trp)
|
rs1555533609
|
0.00001
|
|
NM_001042492.3(NF1):c.551A>G (p.Asn184Ser)
|
rs876659849
|
0.00001
|
|
NM_001042492.3(NF1):c.5610-4C>G
|
rs1419030713
|
0.00001
|
|
NM_001042492.3(NF1):c.5731A>G (p.Ile1911Val)
|
rs146523293
|
0.00001
|
|
NM_001042492.3(NF1):c.5753A>G (p.Asn1918Ser)
|
rs534249104
|
0.00001
|
|
NM_001042492.3(NF1):c.575G>A (p.Arg192Gln)
|
rs587781670
|
0.00001
|
|
NM_001042492.3(NF1):c.5812+332A>G
|
rs863224491
|
0.00001
|
|
NM_001042492.3(NF1):c.5813G>A (p.Ser1938Asn)
|
rs906075234
|
0.00001
|
|
NM_001042492.3(NF1):c.584A>G (p.Lys195Arg)
|
rs587778552
|
0.00001
|
|
NM_001042492.3(NF1):c.587-3C>T
|
rs375188075
|
0.00001
|
|
NM_001042492.3(NF1):c.5947A>G (p.Ile1983Val)
|
rs876658484
|
0.00001
|
|
NM_001042492.3(NF1):c.5951A>G (p.Asn1984Ser)
|
rs764291252
|
0.00001
|
|
NM_001042492.3(NF1):c.6148G>T (p.Val2050Phe)
|
rs1300330804
|
0.00001
|
|
NM_001042492.3(NF1):c.6316G>A (p.Val2106Ile)
|
rs755791578
|
0.00001
|
|
NM_001042492.3(NF1):c.631G>A (p.Ala211Thr)
|
rs781519491
|
0.00001
|
|
NM_001042492.3(NF1):c.6322A>T (p.Thr2108Ser)
|
rs1024333224
|
0.00001
|
|
NM_001042492.3(NF1):c.6334G>A (p.Ala2112Thr)
|
rs749672954
|
0.00001
|
|
NM_001042492.3(NF1):c.6368A>T (p.His2123Leu)
|
rs112546213
|
0.00001
|
|
NM_001042492.3(NF1):c.6442G>A (p.Val2148Ile)
|
rs770993581
|
0.00001
|
|
NM_001042492.3(NF1):c.6555G>A (p.Arg2185=)
|
rs786203189
|
0.00001
|
|
NM_001042492.3(NF1):c.6586A>G (p.Thr2196Ala)
|
rs372169109
|
0.00001
|
|
NM_001042492.3(NF1):c.6637A>G (p.Met2213Val)
|
rs864622330
|
0.00001
|
|
NM_001042492.3(NF1):c.6665C>T (p.Thr2222Met)
|
rs369803831
|
0.00001
|
|
NM_001042492.3(NF1):c.6671A>G (p.Lys2224Arg)
|
rs749567006
|
0.00001
|
|
NM_001042492.3(NF1):c.6674G>A (p.Trp2225Ter)
|
rs1193716348
|
0.00001
|
|
NM_001042492.3(NF1):c.6717A>G (p.Gln2239=)
|
rs2069724967
|
0.00001
|
|
NM_001042492.3(NF1):c.6773G>A (p.Arg2258Gln)
|
rs786202030
|
0.00001
|
|
NM_001042492.3(NF1):c.67A>G (p.Ile23Val)
|
rs542824372
|
0.00001
|
|
NM_001042492.3(NF1):c.6806G>A (p.Arg2269His)
|
rs562367786
|
0.00001
|
|
NM_001042492.3(NF1):c.6819+6T>C
|
rs1407700643
|
0.00001
|
|
NM_001042492.3(NF1):c.6837A>C (p.Leu2279Phe)
|
rs144287929
|
0.00001
|
|
NM_001042492.3(NF1):c.7009C>T (p.Leu2337Phe)
|
rs367734104
|
0.00001
|
|
NM_001042492.3(NF1):c.7045C>T (p.Arg2349Cys)
|
rs56013763
|
0.00001
|
|
NM_001042492.3(NF1):c.7055A>G (p.Asn2352Ser)
|
rs763082717
|
0.00001
|
|
NM_001042492.3(NF1):c.7091G>A (p.Arg2364Gln)
|
rs1555535407
|
0.00001
|
|
NM_001042492.3(NF1):c.7110C>T (p.His2370=)
|
rs201881479
|
0.00001
|
|
NM_001042492.3(NF1):c.7135G>A (p.Gly2379Arg)
|
rs775476318
|
0.00001
|
|
NM_001042492.3(NF1):c.7211C>T (p.Ala2404Val)
|
rs771706364
|
0.00001
|
|
NM_001042492.3(NF1):c.7213A>G (p.Ile2405Val)
|
rs565708398
|
0.00001
|
|
NM_001042492.3(NF1):c.7253C>T (p.Thr2418Ile)
|
rs764022114
|
0.00001
|
|
NM_001042492.3(NF1):c.7298C>T (p.Thr2433Ile)
|
rs755749772
|
0.00001
|
|
NM_001042492.3(NF1):c.7305C>T (p.Ser2435=)
|
rs369754180
|
0.00001
|
|
NM_001042492.3(NF1):c.7326A>G (p.Leu2442=)
|
rs753224880
|
0.00001
|
|
NM_001042492.3(NF1):c.7349G>A (p.Arg2450Gln)
|
rs533110479
|
0.00001
|
|
NM_001042492.3(NF1):c.734G>A (p.Cys245Tyr)
|
rs587781869
|
0.00001
|
|
NM_001042492.3(NF1):c.7370A>G (p.His2457Arg)
|
rs863224664
|
0.00001
|
|
NM_001042492.3(NF1):c.7394A>G (p.Asp2465Gly)
|
rs143474365
|
0.00001
|
|
NM_001042492.3(NF1):c.7402A>G (p.Met2468Val)
|
rs151211377
|
0.00001
|
|
NM_001042492.3(NF1):c.7432A>G (p.Ile2478Val)
|
rs759307070
|
0.00001
|
|
NM_001042492.3(NF1):c.7439A>G (p.His2480Arg)
|
rs371151718
|
0.00001
|
|
NM_001042492.3(NF1):c.7456A>G (p.Arg2486Gly)
|
rs752162999
|
0.00001
|
|
NM_001042492.3(NF1):c.7466A>G (p.Lys2489Arg)
|
rs864622249
|
0.00001
|
|
NM_001042492.3(NF1):c.747A>G (p.Leu249=)
|
rs761964963
|
0.00001
|
|
NM_001042492.3(NF1):c.7487C>G (p.Ser2496Cys)
|
rs371773406
|
0.00001
|
|
NM_001042492.3(NF1):c.7490C>T (p.Pro2497Leu)
|
rs1555536347
|
0.00001
|
|
NM_001042492.3(NF1):c.7513G>A (p.Ala2505Thr)
|
rs786202955
|
0.00001
|
|
NM_001042492.3(NF1):c.7525C>T (p.Pro2509Ser)
|
rs886052803
|
0.00001
|
|
NM_001042492.3(NF1):c.7533C>T (p.Val2511=)
|
rs760733171
|
0.00001
|
|
NM_001042492.3(NF1):c.7534G>A (p.Gly2512Ser)
|
rs766496842
|
0.00001
|
|
NM_001042492.3(NF1):c.7616-15A>C
|
rs952554990
|
0.00001
|
|
NM_001042492.3(NF1):c.7643T>G (p.Ile2548Arg)
|
rs864622266
|
0.00001
|
|
NM_001042492.3(NF1):c.7645T>C (p.Ser2549Pro)
|
rs767458044
|
0.00001
|
|
NM_001042492.3(NF1):c.7700C>T (p.Pro2567Leu)
|
rs754511534
|
0.00001
|
|
NM_001042492.3(NF1):c.7780C>T (p.Arg2594Cys)
|
rs372787215
|
0.00001
|
|
NM_001042492.3(NF1):c.7781G>A (p.Arg2594His)
|
rs774781617
|
0.00001
|
|
NM_001042492.3(NF1):c.7810C>G (p.Leu2604Val)
|
rs776602307
|
0.00001
|
|
NM_001042492.3(NF1):c.7825G>A (p.Val2609Ile)
|
rs786203848
|
0.00001
|
|
NM_001042492.3(NF1):c.7837C>T (p.Pro2613Ser)
|
rs138839077
|
0.00001
|
|
NM_001042492.3(NF1):c.7850C>T (p.Ala2617Val)
|
rs375990655
|
0.00001
|
|
NM_001042492.3(NF1):c.7876C>G (p.Leu2626Val)
|
rs1555536748
|
0.00001
|
|
NM_001042492.3(NF1):c.7889C>G (p.Thr2630Ser)
|
rs1283946778
|
0.00001
|
|
NM_001042492.3(NF1):c.7891A>G (p.Thr2631Ala)
|
rs199474793
|
0.00001
|
|
NM_001042492.3(NF1):c.7897G>A (p.Glu2633Lys)
|
rs750754640
|
0.00001
|
|
NM_001042492.3(NF1):c.7943T>G (p.Val2648Gly)
|
rs1487025591
|
0.00001
|
|
NM_001042492.3(NF1):c.8080T>C (p.Ser2694Pro)
|
rs876658554
|
0.00001
|
|
NM_001042492.3(NF1):c.8150C>T (p.Pro2717Leu)
|
rs778799019
|
0.00001
|
|
NM_001042492.3(NF1):c.8324A>G (p.Asn2775Ser)
|
rs772090874
|
0.00001
|
|
NM_001042492.3(NF1):c.8377+4A>G
|
rs1224454019
|
0.00001
|
|
NM_001042492.3(NF1):c.8386A>C (p.Lys2796Gln)
|
rs1383658117
|
0.00001
|
|
NM_001042492.3(NF1):c.83A>C (p.Gln28Pro)
|
rs587782686
|
0.00001
|
|
NM_001042492.3(NF1):c.8446G>A (p.Gly2816Arg)
|
rs778233452
|
0.00001
|
|
NM_001042492.3(NF1):c.845A>G (p.Gln282Arg)
|
rs779034900
|
0.00001
|
|
NM_001042492.3(NF1):c.8495G>A (p.Arg2832His)
|
rs587781523
|
0.00001
|
|
NM_001042492.3(NF1):c.8500A>G (p.Ser2834Gly)
|
rs764858484
|
0.00001
|
|
NM_001042492.3(NF1):c.8515G>A (p.Val2839Met)
|
rs368149035
|
0.00001
|
|
NM_001042492.3(NF1):c.853T>G (p.Ser285Ala)
|
rs1555608981
|
0.00001
|
|
NM_001042492.3(NF1):c.862G>A (p.Val288Met)
|
rs755670651
|
0.00001
|
|
NM_001042492.3(NF1):c.873A>C (p.Glu291Asp)
|
rs754915138
|
0.00001
|
|
NM_001042492.3(NF1):c.911G>A (p.Arg304Gln)
|
rs76015786
|
0.00001
|
|
NM_001042492.3(NF1):c.91C>T (p.His31Tyr)
|
rs786202864
|
0.00001
|
|
NM_001042492.3(NF1):c.964A>G (p.Ile322Val)
|
rs755007999
|
0.00001
|
|
NM_001042492.3(NF1):c.98A>G (p.Lys33Arg)
|
rs1555604887
|
0.00001
|
|
NM_001042492.3(NF1):c.-272G>A
|
rs1911510393
|
|
|
NM_001042492.3(NF1):c.1013A>G (p.Asp338Gly)
|
rs199474773
|
|
|
NM_001042492.3(NF1):c.1019_1020del (p.Ser340fs)
|
rs1555610903
|
|
|
NM_001042492.3(NF1):c.1021G>A (p.Val341Ile)
|
rs1555610907
|
|
|
NM_001042492.3(NF1):c.1038del (p.Gln347fs)
|
rs2143874352
|
|
|
NM_001042492.3(NF1):c.1061A>G (p.Lys354Arg)
|
rs1135402801
|
|
|
NM_001042492.3(NF1):c.1062+2dup
|
rs2066510417
|
|
|
NM_001042492.3(NF1):c.1062+3A>G
|
rs1057521098
|
|
|
NM_001042492.3(NF1):c.1062G>A (p.Lys354=)
|
rs1131691118
|
|
|
NM_001042492.3(NF1):c.1062G>T (p.Lys354Asn)
|
rs1131691118
|
|
|
NM_001042492.3(NF1):c.1063-1G>C
|
rs1555610955
|
|
|
NM_001042492.3(NF1):c.1069C>T (p.Leu357Phe)
|
rs1567835662
|
|
|
NM_001042492.3(NF1):c.1077del (p.Pro360fs)
|
rs1555610972
|
|
|
NM_001042492.3(NF1):c.1104_1107del (p.Gln369fs)
|
rs1555610984
|
|
|
NM_001042492.3(NF1):c.1139T>G (p.Leu380Arg)
|
rs1555611004
|
|
|
NM_001042492.3(NF1):c.1183_1185+2del
|
rs1555611039
|
|
|
NM_001042492.3(NF1):c.1185+1G>T
|
rs864622161
|
|
|
NM_001042492.3(NF1):c.1185+2T>C
|
rs1555611043
|
|
|
NM_001042492.3(NF1):c.1185+5G>C
|
rs1597682182
|
|
|
NM_001042492.3(NF1):c.1185+7G>C
|
rs1322791959
|
|
|
NM_001042492.3(NF1):c.1185G>A (p.Lys395=)
|
rs1567835847
|
|
|
NM_001042492.3(NF1):c.1186-1G>C
|
rs876660782
|
|
|
NM_001042492.3(NF1):c.1186-1G>T
|
rs876660782
|
|
|
NM_001042492.3(NF1):c.1186-2A>G
|
rs1373365576
|
|
|
NM_001042492.3(NF1):c.1186-6C>T
|
rs200684215
|
|
|
NM_001042492.3(NF1):c.122A>C (p.Glu41Ala)
|
rs786203038
|
|
|
NM_001042492.3(NF1):c.1235A>G (p.Asn412Ser)
|
rs1567836090
|
|
|
NM_001042492.3(NF1):c.1252A>G (p.Ile418Val)
|
rs1597682898
|
|
|
NM_001042492.3(NF1):c.1260+1604A>G
|
rs1131691067
|
|
|
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+5G>C
|
rs1060500253
|
|
|
NM_001042492.3(NF1):c.1260+6T>C
|
rs1555611111
|
|
|
NM_001042492.3(NF1):c.1261-19G>A
|
rs1597688663
|
|
|
NM_001042492.3(NF1):c.1261T>G (p.Ser421Ala)
|
rs878853864
|
|
|
NM_001042492.3(NF1):c.128T>C (p.Leu43Pro)
|
rs1555604899
|
|
|
NM_001042492.3(NF1):c.1307C>T (p.Ser436Leu)
|
rs755190083
|
|
|
NM_001042492.3(NF1):c.1310T>A (p.Val437Asp)
|
rs876658642
|
|
|
NM_001042492.3(NF1):c.1310T>C (p.Val437Ala)
|
rs876658642
|
|
|
NM_001042492.3(NF1):c.1316T>C (p.Leu439Pro)
|
rs2143914353
|
|
|
NM_001042492.3(NF1):c.1328T>C (p.Phe443Ser)
|
rs1555611581
|
|
|
NM_001042492.3(NF1):c.1392+1G>A
|
rs267604791
|
|
|
NM_001042492.3(NF1):c.1392+5_1392+6delinsTT
|
rs587782851
|
|
|
NM_001042492.3(NF1):c.1393-1G>C
|
rs1131691131
|
|
|
NM_001042492.3(NF1):c.1393-2A>G
|
rs1555612266
|
|
|
NM_001042492.3(NF1):c.1393-2A>T
|
rs1555612266
|
|
|
NM_001042492.3(NF1):c.1393-592A>G
|
rs2066773116
|
|
|
NM_001042492.3(NF1):c.1405A>G (p.Lys469Glu)
|
rs1555612271
|
|
|
NM_001042492.3(NF1):c.1426A>G (p.Lys476Glu)
|
rs2066785949
|
|
|
NM_001042492.3(NF1):c.1465T>G (p.Tyr489Asp)
|
rs2066786672
|
|
|
NM_001042492.3(NF1):c.1490del (p.Val497fs)
|
rs1555612286
|
|
|
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.1527+1159C>T
|
rs878853868
|
|
|
NM_001042492.3(NF1):c.1527+1G>C
|
rs1060500331
|
|
|
NM_001042492.3(NF1):c.1527+2T>C
|
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.1527+5G>C
|
rs1060500352
|
|
|
NM_001042492.3(NF1):c.1528-3C>T
|
rs1060500294
|
|
|
NM_001042492.3(NF1):c.1585C>T (p.Leu529Phe)
|
rs1135402816
|
|
|
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.1598T>A (p.Val533Asp)
|
rs1555612857
|
|
|
NM_001042492.3(NF1):c.1598T>G (p.Val533Gly)
|
rs1555612857
|
|
|
NM_001042492.3(NF1):c.15del (p.Arg5fs)
|
rs1057516197
|
|
|
NM_001042492.3(NF1):c.1607C>G (p.Ser536Ter)
|
rs1555612859
|
|
|
NM_001042492.3(NF1):c.1636A>G (p.Met546Val)
|
rs2066877456
|
|
|
NM_001042492.3(NF1):c.1641+1G>A
|
rs1555612866
|
|
|
NM_001042492.3(NF1):c.1641+2T>C
|
rs1555612867
|
|
|
NM_001042492.3(NF1):c.1642-449A>G
|
rs863224655
|
|
|
NM_001042492.3(NF1):c.1642G>C (p.Ala548Pro)
|
rs2066927450
|
|
|
NM_001042492.3(NF1):c.1646T>C (p.Leu549Pro)
|
rs199474758
|
|
|
NM_001042492.3(NF1):c.1652TTC[1] (p.Leu552del)
|
rs2144003808
|
|
|
NM_001042492.3(NF1):c.1655T>C (p.Leu552Pro)
|
rs1555613193
|
|
|
NM_001042492.3(NF1):c.1655T>G (p.Leu552Arg)
|
rs1555613193
|
|
|
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.1661A>G (p.Gln554Arg)
|
rs863224656
|
|
|
NM_001042492.3(NF1):c.1670G>A (p.Ser557Asn)
|
rs1567845046
|
|
|
NM_001042492.3(NF1):c.1720A>C (p.Ser574Arg)
|
rs2066929440
|
|
|
NM_001042492.3(NF1):c.1721G>A (p.Ser574Asn)
|
rs1555613206
|
|
|
NM_001042492.3(NF1):c.1722-26T>C
|
rs1597708542
|
|
|
NM_001042492.3(NF1):c.1722-2A>C
|
rs763983337
|
|
|
NM_001042492.3(NF1):c.1722-3C>A
|
rs770211384
|
|
|
NM_001042492.3(NF1):c.1733T>C (p.Leu578Pro)
|
rs199474774
|
|
|
NM_001042492.3(NF1):c.1733T>G (p.Leu578Arg)
|
rs199474774
|
|
|
NM_001042492.3(NF1):c.1738del (p.Tyr580fs)
|
rs786204255
|
|
|
NM_001042492.3(NF1):c.1748A>G (p.Lys583Arg)
|
rs199474760
|
|
|
NM_001042492.3(NF1):c.174C>T (p.Leu58=)
|
rs2065657421
|
|
|
NM_001042492.3(NF1):c.179C>G (p.Thr60Ser)
|
rs1007047958
|
|
|
NM_001042492.3(NF1):c.17C>T (p.Pro6Leu)
|
rs864622210
|
|
|
NM_001042492.3(NF1):c.1802G>A (p.Arg601Gln)
|
rs1060500288
|
|
|
NM_001042492.3(NF1):c.1818C>T (p.Cys606=)
|
rs1567845937
|
|
|
NM_001042492.3(NF1):c.1833del (p.Asn614fs)
|
rs2508126744
|
|
|
NM_001042492.3(NF1):c.1845+1_1845+5del
|
rs1135402822
|
|
|
NM_001042492.3(NF1):c.1845+2T>C
|
rs1555613430
|
|
|
NM_001042492.3(NF1):c.1845G>A (p.Lys615=)
|
rs1131691080
|
|
|
NM_001042492.3(NF1):c.1846C>T (p.Gln616Ter)
|
rs1555613543
|
|
|
NM_001042492.3(NF1):c.1855A>G (p.Arg619Gly)
|
rs587781821
|
|
|
NM_001042492.3(NF1):c.1866T>C (p.Cys622=)
|
rs753245823
|
|
|
NM_001042492.3(NF1):c.1868A>G (p.His623Arg)
|
rs1555613555
|
|
|
NM_001042492.3(NF1):c.1884del (p.Phe627_Tyr628insTer)
|
rs2066990429
|
|
|
NM_001042492.3(NF1):c.1885G>C (p.Gly629Arg)
|
rs199474738
|
|
|
NM_001042492.3(NF1):c.1888G>A (p.Val630Ile)
|
rs751795238
|
|
|
NM_001042492.3(NF1):c.188del (p.Lys63fs)
|
rs1555604939
|
|
|
NM_001042492.3(NF1):c.1910G>C (p.Ser637Thr)
|
rs749745247
|
|
|
NM_001042492.3(NF1):c.1950dup (p.Leu651fs)
|
|
|
|
NM_001042492.3(NF1):c.1954C>T (p.Arg652Cys)
|
rs786202436
|
|
|
NM_001042492.3(NF1):c.1986del (p.Asn664fs)
|
rs2066993468
|
|
|
NM_001042492.3(NF1):c.2002-4_2002-3del
|
rs786203664
|
|
|
NM_001042492.3(NF1):c.2002-5C>G
|
rs1165625614
|
|
|
NM_001042492.3(NF1):c.2015G>T (p.Gly672Val)
|
rs371817372
|
|
|
NM_001042492.3(NF1):c.2028C>G (p.Thr676=)
|
rs878853873
|
|
|
NM_001042492.3(NF1):c.2032C>A (p.Pro678Thr)
|
rs758691069
|
|
|
NM_001042492.3(NF1):c.2032C>T (p.Pro678Ser)
|
rs758691069
|
|
|
NM_001042492.3(NF1):c.204+3_204+6del
|
rs1567814632
|
|
|
NM_001042492.3(NF1):c.2042G>A (p.Arg681Gln)
|
rs786201768
|
|
|
NM_001042492.3(NF1):c.2072T>C (p.Leu691Pro)
|
rs1131691132
|
|
|
NM_001042492.3(NF1):c.2077A>G (p.Met693Val)
|
rs1555613794
|
|
|
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.2098A>G (p.Thr700Ala)
|
rs1555613801
|
|
|
NM_001042492.3(NF1):c.2116G>A (p.Ala706Thr)
|
rs876658232
|
|
|
NM_001042492.3(NF1):c.2117C>T (p.Ala706Val)
|
rs2151425819
|
|
|
NM_001042492.3(NF1):c.2125T>C (p.Cys709Arg)
|
rs1131691095
|
|
|
NM_001042492.3(NF1):c.2131C>T (p.Arg711Cys)
|
rs1400902839
|
|
|
NM_001042492.3(NF1):c.2135A>G (p.His712Arg)
|
rs199474727
|
|
|
NM_001042492.3(NF1):c.2163T>A (p.Cys721Ter)
|
rs1555613816
|
|
|
NM_001042492.3(NF1):c.2189A>C (p.Asn730Thr)
|
rs778033578
|
|
|
NM_001042492.3(NF1):c.2233A>G (p.Ser745Gly)
|
rs786201865
|
|
|
NM_001042492.3(NF1):c.2239A>G (p.Met747Val)
|
rs1471232737
|
|
|
NM_001042492.3(NF1):c.2250A>G (p.Thr750=)
|
rs876659061
|
|
|
NM_001042492.3(NF1):c.2251+1G>C
|
rs1555613843
|
|
|
NM_001042492.3(NF1):c.2251+1G>T
|
rs1555613843
|
|
|
NM_001042492.3(NF1):c.2251+5A>T
|
rs786201934
|
|
|
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>C
|
rs587781577
|
|
|
NM_001042492.3(NF1):c.2252-1G>T
|
rs587781577
|
|
|
NM_001042492.3(NF1):c.2252-2A>G
|
rs1131691105
|
|
|
NM_001042492.3(NF1):c.2252-3T>G
|
rs1057518842
|
|
|
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.2325+3A>T
|
rs1057517848
|
|
|
NM_001042492.3(NF1):c.2325+4T>C
|
rs1555613934
|
|
|
NM_001042492.3(NF1):c.2325G>A (p.Glu775=)
|
rs1555613932
|
|
|
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>G
|
rs1555613975
|
|
|
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.2330G>C (p.Trp777Ser)
|
rs199474745
|
|
|
NM_001042492.3(NF1):c.2331G>A (p.Trp777Ter)
|
rs1555613983
|
|
|
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.2342A>C (p.His781Pro)
|
rs199474763
|
|
|
NM_001042492.3(NF1):c.234T>A (p.Asn78Lys)
|
rs876658354
|
|
|
NM_001042492.3(NF1):c.2351G>C (p.Trp784Ser)
|
rs2067038047
|
|
|
NM_001042492.3(NF1):c.2352G>C (p.Trp784Cys)
|
rs199474778
|
|
|
NM_001042492.3(NF1):c.2353G>A (p.Glu785Lys)
|
rs1597713756
|
|
|
NM_001042492.3(NF1):c.2378del (p.Asn793fs)
|
|
|
|
NM_001042492.3(NF1):c.2390C>T (p.Ala797Val)
|
rs1181350360
|
|
|
NM_001042492.3(NF1):c.239A>C (p.Tyr80Ser)
|
rs4795581
|
|
|
NM_001042492.3(NF1):c.239A>G (p.Tyr80Cys)
|
rs4795581
|
|
|
NM_001042492.3(NF1):c.2409+15T>C
|
rs2067039946
|
|
|
NM_001042492.3(NF1):c.2409+1G>C
|
rs1555614022
|
|
|
NM_001042492.3(NF1):c.2409+2T>A
|
rs876660826
|
|
|
NM_001042492.3(NF1):c.2410-12T>G
|
rs876657932
|
|
|
NM_001042492.3(NF1):c.2410-13A>G
|
rs1567848711
|
|
|
NM_001042492.3(NF1):c.2410-15A>G
|
rs1597715031
|
|
|
NM_001042492.3(NF1):c.2410-16A>G
|
rs1567848704
|
|
|
NM_001042492.3(NF1):c.2410-18C>G
|
rs533210843
|
|
|
NM_001042492.3(NF1):c.2410-3T>G
|
rs1450743199
|
|
|
NM_001042492.3(NF1):c.2410G>C (p.Ala804Pro)
|
rs761109477
|
|
|
NM_001042492.3(NF1):c.2440A>G (p.Lys814Glu)
|
rs1555614184
|
|
|
NM_001042492.3(NF1):c.245C>T (p.Ser82Phe)
|
rs199474729
|
|
|
NM_001042492.3(NF1):c.248A>C (p.Gln83Pro)
|
rs1060500360
|
|
|
NM_001042492.3(NF1):c.2509T>C (p.Trp837Arg)
|
rs587781747
|
|
|
NM_001042492.3(NF1):c.2521A>C (p.Thr841Pro)
|
rs2067066952
|
|
|
NM_001042492.3(NF1):c.2530C>T (p.Leu844Phe)
|
rs199474785
|
|
|
NM_001042492.3(NF1):c.2531T>C (p.Leu844Pro)
|
rs137854566
|
|
|
NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro)
|
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.2560C>T (p.Gln854Ter)
|
rs1555614261
|
|
|
NM_001042492.3(NF1):c.2618G>C (p.Arg873Pro)
|
rs949092641
|
|
|
NM_001042492.3(NF1):c.2623G>T (p.Gly875Cys)
|
rs754734571
|
|
|
NM_001042492.3(NF1):c.2641A>G (p.Met881Val)
|
rs1060500263
|
|
|
NM_001042492.3(NF1):c.2665dup (p.Thr889fs)
|
rs886041348
|
|
|
NM_001042492.3(NF1):c.2674A>T (p.Ser892Cys)
|
rs746324091
|
|
|
NM_001042492.3(NF1):c.2681T>C (p.Phe894Ser)
|
rs1282493551
|
|
|
NM_001042492.3(NF1):c.2683A>G (p.Met895Val)
|
rs876659129
|
|
|
NM_001042492.3(NF1):c.2693T>C (p.Leu898Pro)
|
rs199474786
|
|
|
NM_001042492.3(NF1):c.269T>G (p.Leu90Arg)
|
rs1555605393
|
|
|
NM_001042492.3(NF1):c.2710T>A (p.Cys904Ser)
|
rs2151429494
|
|
|
NM_001042492.3(NF1):c.2761G>A (p.Val921Met)
|
rs567023433
|
|
|
NM_001042492.3(NF1):c.2764G>A (p.Gly922Ser)
|
rs1135402831
|
|
|
NM_001042492.3(NF1):c.2774del (p.Glu924_Leu925insTer)
|
rs2508188482
|
|
|
NM_001042492.3(NF1):c.277T>C (p.Cys93Arg)
|
rs1555605398
|
|
|
NM_001042492.3(NF1):c.2798T>C (p.Leu933Pro)
|
rs1555614342
|
|
|
NM_001042492.3(NF1):c.279T>G (p.Cys93Trp)
|
rs1597629882
|
|
|
NM_001042492.3(NF1):c.2823del (p.Ser942fs)
|
rs2067074423
|
|
|
NM_001042492.3(NF1):c.2825G>C (p.Ser942Thr)
|
rs1555614350
|
|
|
NM_001042492.3(NF1):c.2835del (p.Phe945fs)
|
rs1567849208
|
|
|
NM_001042492.3(NF1):c.2846dup (p.Gln950fs)
|
rs1555614358
|
|
|
NM_001042492.3(NF1):c.2851-21_2851-17del
|
rs758020046
|
|
|
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.2870A>T (p.Asn957Ile)
|
rs1135402834
|
|
|
NM_001042492.3(NF1):c.2877dup (p.Phe960fs)
|
|
|
|
NM_001042492.3(NF1):c.288+4A>G
|
rs781459468
|
|
|
NM_001042492.3(NF1):c.288+5G>A
|
rs1555605409
|
|
|
NM_001042492.3(NF1):c.2894T>A (p.Ile965Lys)
|
rs1555614438
|
|
|
NM_001042492.3(NF1):c.2915T>C (p.Leu972Pro)
|
rs1597716348
|
|
|
NM_001042492.3(NF1):c.2947_2948del (p.Leu983fs)
|
rs1597716378
|
|
|
NM_001042492.3(NF1):c.2970_2972del (p.Met992del)
|
rs267606606
|
|
|
NM_001042492.3(NF1):c.2989A>G (p.Arg997Gly)
|
rs2067085335
|
|
|
NM_001042492.3(NF1):c.2990+1G>A
|
rs1135402836
|
|
|
NM_001042492.3(NF1):c.2990+5G>A
|
rs1555614464
|
|
|
NM_001042492.3(NF1):c.2991-2A>C
|
rs1555614495
|
|
|
NM_001042492.3(NF1):c.2991-2A>G
|
rs1555614495
|
|
|
NM_001042492.3(NF1):c.2998_2999del (p.Arg1000fs)
|
rs1597716817
|
|
|
NM_001042492.3(NF1):c.2T>A (p.Met1Lys)
|
rs886041346
|
|
|
NM_001042492.3(NF1):c.3044T>C (p.Leu1015Pro)
|
rs1131691112
|
|
|
NM_001042492.3(NF1):c.3047G>A (p.Cys1016Tyr)
|
rs2067091492
|
|
|
NM_001042492.3(NF1):c.3104T>A (p.Met1035Lys)
|
rs137854553
|
|
|
NM_001042492.3(NF1):c.3104T>C (p.Met1035Thr)
|
rs137854553
|
|
|
NM_001042492.3(NF1):c.3104T>G (p.Met1035Arg)
|
rs137854553
|
|
|
NM_001042492.3(NF1):c.3113+1G>T
|
rs267606599
|
|
|
NM_001042492.3(NF1):c.3113+2T>C
|
rs876658997
|
|
|
NM_001042492.3(NF1):c.3113+2T>G
|
rs876658997
|
|
|
NM_001042492.3(NF1):c.3113+5G>A
|
rs1555614549
|
|
|
NM_001042492.3(NF1):c.3113+5G>C
|
rs1555614549
|
|
|
NM_001042492.3(NF1):c.3113+5G>T
|
rs1555614549
|
|
|
NM_001042492.3(NF1):c.3114-2A>G
|
rs1428885377
|
|
|
NM_001042492.3(NF1):c.3114-8T>G
|
rs1597717471
|
|
|
NM_001042492.3(NF1):c.3118A>G (p.Lys1040Glu)
|
rs1555614619
|
|
|
NM_001042492.3(NF1):c.3142T>C (p.Trp1048Arg)
|
rs1555614634
|
|
|
NM_001042492.3(NF1):c.3171A>G (p.Ala1057=)
|
rs2067102269
|
|
|
NM_001042492.3(NF1):c.3197+1G>A
|
rs1555614653
|
|
|
NM_001042492.3(NF1):c.3197+9dup
|
rs755212937
|
|
|
NM_001042492.3(NF1):c.3198-1G>C
|
rs1223905930
|
|
|
NM_001042492.3(NF1):c.3198-314G>A
|
rs2067116490
|
|
|
NM_001042492.3(NF1):c.3198-5T>G
|
rs587782639
|
|
|
NM_001042492.3(NF1):c.3211G>C (p.Ala1071Pro)
|
rs2067122183
|
|
|
NM_001042492.3(NF1):c.3239T>C (p.Leu1080Pro)
|
rs1555614833
|
|
|
NM_001042492.3(NF1):c.3250C>A (p.Pro1084Thr)
|
rs1555614848
|
|
|
NM_001042492.3(NF1):c.3250C>T (p.Pro1084Ser)
|
rs1555614848
|
|
|
NM_001042492.3(NF1):c.3251C>G (p.Pro1084Arg)
|
rs1164081667
|
|
|
NM_001042492.3(NF1):c.3251C>T (p.Pro1084Leu)
|
rs1164081667
|
|
|
NM_001042492.3(NF1):c.3277G>A (p.Val1093Met)
|
rs1555614858
|
|
|
NM_001042492.3(NF1):c.3301_3302del (p.Gln1101fs)
|
rs1555614866
|
|
|
NM_001042492.3(NF1):c.3313A>T (p.Lys1105Ter)
|
rs1555614867
|
|
|
NM_001042492.3(NF1):c.3315-3C>G
|
rs752318318
|
|
|
NM_001042492.3(NF1):c.3315-8T>G
|
rs764783865
|
|
|
NM_001042492.3(NF1):c.3317dup (p.Tyr1106Ter)
|
|
|
|
NM_001042492.3(NF1):c.3318C>A (p.Tyr1106Ter)
|
rs876659289
|
|
|
NM_001042492.3(NF1):c.3329_3332del (p.Leu1109_Phe1110insTer)
|
rs2067134264
|
|
|
NM_001042492.3(NF1):c.332_335del (p.Lys111fs)
|
rs1135402787
|
|
|
NM_001042492.3(NF1):c.3383G>A (p.Gly1128Asp)
|
rs1060500325
|
|
|
NM_001042492.3(NF1):c.3427C>T (p.His1143Tyr)
|
rs1555614963
|
|
|
NM_001042492.3(NF1):c.3428A>G (p.His1143Arg)
|
rs1555614965
|
|
|
NM_001042492.3(NF1):c.3437T>A (p.Val1146Asp)
|
rs2067137147
|
|
|
NM_001042492.3(NF1):c.3445A>G (p.Met1149Val)
|
rs1187097568
|
|
|
NM_001042492.3(NF1):c.3447G>A (p.Met1149Ile)
|
rs1064794277
|
|
|
NM_001042492.3(NF1):c.3447G>C (p.Met1149Ile)
|
rs1064794277
|
|
|
NM_001042492.3(NF1):c.3447G>T (p.Met1149Ile)
|
rs1064794277
|
|
|
NM_001042492.3(NF1):c.3448T>C (p.Ser1150Pro)
|
rs2067137547
|
|
|
NM_001042492.3(NF1):c.3460A>G (p.Asn1154Asp)
|
rs2067137878
|
|
|
NM_001042492.3(NF1):c.3461A>T (p.Asn1154Ile)
|
rs371544233
|
|
|
NM_001042492.3(NF1):c.3467A>G (p.Asn1156Ser)
|
rs199474764
|
|
|
NM_001042492.3(NF1):c.3479G>A (p.Gly1160Asp)
|
rs2067138342
|
|
|
NM_001042492.3(NF1):c.3496+5G>C
|
rs786202564
|
|
|
NM_001042492.3(NF1):c.3497-1G>A
|
rs1555615004
|
|
|
NM_001042492.3(NF1):c.3502G>C (p.Gly1168Arg)
|
rs878853883
|
|
|
NM_001042492.3(NF1):c.3544G>C (p.Val1182Leu)
|
rs1555615027
|
|
|
NM_001042492.3(NF1):c.3545T>C (p.Val1182Ala)
|
rs2067142076
|
|
|
NM_001042492.3(NF1):c.3545T>G (p.Val1182Gly)
|
rs2067142076
|
|
|
NM_001042492.3(NF1):c.3569G>A (p.Gly1190Asp)
|
rs1555615032
|
|
|
NM_001042492.3(NF1):c.356A>G (p.His119Arg)
|
rs150080742
|
|
|
NM_001042492.3(NF1):c.3572C>G (p.Thr1191Arg)
|
rs2151435462
|
|
|
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.3586C>G (p.Leu1196Val)
|
rs1555615039
|
|
|
NM_001042492.3(NF1):c.3589G>A (p.Ala1197Thr)
|
rs2151435523
|
|
|
NM_001042492.3(NF1):c.3590C>T (p.Ala1197Val)
|
rs370820478
|
|
|
NM_001042492.3(NF1):c.3596C>G (p.Thr1199Arg)
|
rs1555615047
|
|
|
NM_001042492.3(NF1):c.3596C>T (p.Thr1199Ile)
|
rs1555615047
|
|
|
NM_001042492.3(NF1):c.3610C>G (p.Arg1204Gly)
|
rs199474732
|
|
|
NM_001042492.3(NF1):c.3623T>G (p.Leu1208Trp)
|
rs1060500374
|
|
|
NM_001042492.3(NF1):c.3638del (p.Thr1213fs)
|
|
|
|
NM_001042492.3(NF1):c.3656G>A (p.Gly1219Glu)
|
rs878853885
|
|
|
NM_001042492.3(NF1):c.3656_3658del (p.Gly1219del)
|
rs1555615077
|
|
|
NM_001042492.3(NF1):c.3671C>T (p.Ala1224Val)
|
rs1060500340
|
|
|
NM_001042492.3(NF1):c.3708+1G>A
|
rs1420779915
|
|
|
NM_001042492.3(NF1):c.3736_3737del (p.Leu1246fs)
|
rs2067186293
|
|
|
NM_001042492.3(NF1):c.373C>T (p.Arg125Cys)
|
rs876659418
|
|
|
NM_001042492.3(NF1):c.3764A>G (p.Gln1255Arg)
|
rs1555615453
|
|
|
NM_001042492.3(NF1):c.3778A>G (p.Met1260Val)
|
rs1264981144
|
|
|
NM_001042492.3(NF1):c.3790G>A (p.Glu1264Lys)
|
rs863224660
|
|
|
NM_001042492.3(NF1):c.3812T>C (p.Met1271Thr)
|
rs876659801
|
|
|
NM_001042492.3(NF1):c.3826del (p.Arg1276fs)
|
rs2067188667
|
|
|
NM_001042492.3(NF1):c.3827G>T (p.Arg1276Leu)
|
rs137854556
|
|
|
NM_001042492.3(NF1):c.3831C>T (p.Gly1277=)
|
rs1597722611
|
|
|
NM_001042492.3(NF1):c.3834C>G (p.Asn1278Lys)
|
rs1135402850
|
|
|
NM_001042492.3(NF1):c.3841G>A (p.Ala1281Thr)
|
rs2151438011
|
|
|
NM_001042492.3(NF1):c.3842C>G (p.Ala1281Gly)
|
rs1060500341
|
|
|
NM_001042492.3(NF1):c.3864T>A (p.Cys1288Ter)
|
rs1555615495
|
|
|
NM_001042492.3(NF1):c.386A>T (p.Gln129Leu)
|
rs1060500250
|
|
|
NM_001042492.3(NF1):c.3870+1G>A
|
rs1131691075
|
|
|
NM_001042492.3(NF1):c.3871-13T>A
|
rs1597722866
|
|
|
NM_001042492.3(NF1):c.3875A>G (p.Tyr1292Cys)
|
rs1060500243
|
|
|
NM_001042492.3(NF1):c.387G>C (p.Gln129His)
|
rs1390215440
|
|
|
NM_001042492.3(NF1):c.3892C>T (p.Gln1298Ter)
|
rs2067193761
|
|
|
NM_001042492.3(NF1):c.389A>G (p.His130Arg)
|
rs876660277
|
|
|
NM_001042492.3(NF1):c.389A>T (p.His130Leu)
|
rs876660277
|
|
|
NM_001042492.3(NF1):c.38T>C (p.Val13Ala)
|
rs1911556061
|
|
|
NM_001042492.3(NF1):c.3916C>T (p.Arg1306Ter)
|
rs376576925
|
|
|
NM_001042492.3(NF1):c.3974G>C (p.Arg1325Thr)
|
rs863224447
|
|
|
NM_001042492.3(NF1):c.3G>T (p.Met1Ile)
|
rs1598173737
|
|
|
NM_001042492.3(NF1):c.4010G>A (p.Arg1337Gln)
|
rs1060500379
|
|
|
NM_001042492.3(NF1):c.4011G>C (p.Arg1337=)
|
rs2067448681
|
|
|
NM_001042492.3(NF1):c.4016T>G (p.Leu1339Arg)
|
rs1567858306
|
|
|
NM_001042492.3(NF1):c.4022A>T (p.Gln1341Leu)
|
rs1555617325
|
|
|
NM_001042492.3(NF1):c.4043A>G (p.His1348Arg)
|
rs786201844
|
|
|
NM_001042492.3(NF1):c.4054A>T (p.Ser1352Cys)
|
rs1337343400
|
|
|
NM_001042492.3(NF1):c.4058C>T (p.Ser1353Phe)
|
rs1555617346
|
|
|
NM_001042492.3(NF1):c.4069T>C (p.Phe1357Leu)
|
rs1207255352
|
|
|
NM_001042492.3(NF1):c.4072C>T (p.Pro1358Ser)
|
rs1555617359
|
|
|
NM_001042492.3(NF1):c.4074_4075delinsAA (p.Pro1359Thr)
|
rs1555617362
|
|
|
NM_001042492.3(NF1):c.4099T>C (p.Cys1367Arg)
|
rs2151451647
|
|
|
NM_001042492.3(NF1):c.4110+3A>C
|
rs774669878
|
|
|
NM_001042492.3(NF1):c.4110+945A>G
|
rs2067468999
|
|
|
NM_001042492.3(NF1):c.412G>C (p.Ala138Pro)
|
rs1597635936
|
|
|
NM_001042492.3(NF1):c.4173+278A>G
|
|
|
|
NM_001042492.3(NF1):c.4174-8_4174-6del
|
rs751729752
|
|
|
NM_001042492.3(NF1):c.4183C>T (p.Gln1395Ter)
|
rs1555618494
|
|
|
NM_001042492.3(NF1):c.4186C>T (p.Arg1396Cys)
|
rs1555618495
|
|
|
NM_001042492.3(NF1):c.4208del (p.Gly1403fs)
|
rs2067621019
|
|
|
NM_001042492.3(NF1):c.4226T>C (p.Met1409Thr)
|
rs1555618508
|
|
|
NM_001042492.3(NF1):c.4226T>G (p.Met1409Arg)
|
rs1555618508
|
|
|
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.4232T>C (p.Leu1411Pro)
|
rs2067621676
|
|
|
NM_001042492.3(NF1):c.4235G>C (p.Arg1412Thr)
|
rs1555618516
|
|
|
NM_001042492.3(NF1):c.4236A>T (p.Arg1412Ser)
|
rs137854554
|
|
|
NM_001042492.3(NF1):c.4243A>C (p.Asn1415His)
|
rs1555618518
|
|
|
NM_001042492.3(NF1):c.4243A>T (p.Asn1415Tyr)
|
rs1555618518
|
|
|
NM_001042492.3(NF1):c.4277T>C (p.Ile1426Thr)
|
rs1555618549
|
|
|
NM_001042492.3(NF1):c.4285A>T (p.Lys1429Ter)
|
rs758915600
|
|
|
NM_001042492.3(NF1):c.4316T>A (p.Leu1439Ter)
|
rs1567862071
|
|
|
NM_001042492.3(NF1):c.4321T>G (p.Leu1441Val)
|
rs786201458
|
|
|
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.4331A>T (p.Lys1444Met)
|
rs199474781
|
|
|
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.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.4341G>C (p.Gln1447His)
|
rs876660206
|
|
|
NM_001042492.3(NF1):c.4352A>T (p.Asn1451Ile)
|
rs199474754
|
|
|
NM_001042492.3(NF1):c.4357G>T (p.Val1453Phe)
|
rs199474755
|
|
|
NM_001042492.3(NF1):c.4360C>G (p.Leu1454Val)
|
rs1408832954
|
|
|
NM_001042492.3(NF1):c.4367del (p.Thr1456fs)
|
rs2067637088
|
|
|
NM_001042492.3(NF1):c.4369_4371del (p.Lys1457del)
|
rs1555618653
|
|
|
NM_001042492.3(NF1):c.4372GAA[1] (p.Glu1459del)
|
rs267606607
|
|
|
NM_001042492.3(NF1):c.4378C>T (p.His1460Tyr)
|
rs377295676
|
|
|
NM_001042492.3(NF1):c.4381A>T (p.Met1461Leu)
|
rs1555618675
|
|
|
NM_001042492.3(NF1):c.4381_4382del (p.Met1461fs)
|
rs1135402859
|
|
|
NM_001042492.3(NF1):c.4382T>A (p.Met1461Lys)
|
rs754639587
|
|
|
NM_001042492.3(NF1):c.4412A>G (p.Asn1471Ser)
|
rs876658250
|
|
|
NM_001042492.3(NF1):c.4430+1G>C
|
rs773151680
|
|
|
NM_001042492.3(NF1):c.4431-9T>G
|
rs1597746884
|
|
|
NM_001042492.3(NF1):c.4462A>G (p.Thr1488Ala)
|
rs876660162
|
|
|
NM_001042492.3(NF1):c.4489del (p.Ser1497fs)
|
rs2067664000
|
|
|
NM_001042492.3(NF1):c.4498A>G (p.Ser1500Gly)
|
rs1135402862
|
|
|
NM_001042492.3(NF1):c.4520del (p.Leu1507fs)
|
rs2151464729
|
|
|
NM_001042492.3(NF1):c.4530A>G (p.Leu1510=)
|
rs876660089
|
|
|
NM_001042492.3(NF1):c.4532T>C (p.Leu1511Pro)
|
rs1135402864
|
|
|
NM_001042492.3(NF1):c.4536G>C (p.Trp1512Cys)
|
rs878853897
|
|
|
NM_001042492.3(NF1):c.4544A>G (p.Gln1515Arg)
|
rs1135402865
|
|
|
NM_001042492.3(NF1):c.4556G>A (p.Gly1519Glu)
|
rs1567863004
|
|
|
NM_001042492.3(NF1):c.4571_4572delinsAA (p.Ser1524Lys)
|
rs1555618860
|
|
|
NM_001042492.3(NF1):c.4577+1G>C
|
rs1279529138
|
|
|
NM_001042492.3(NF1):c.4577+2T>G
|
rs1597747184
|
|
|
NM_001042492.3(NF1):c.4578-14T>G
|
|
|
|
NM_001042492.3(NF1):c.4578-20_4578-18del
|
rs1597748617
|
|
|
NM_001042492.3(NF1):c.4578-3del
|
rs1597748663
|
|
|
NM_001042492.3(NF1):c.4578-8G>C
|
rs375758486
|
|
|
NM_001042492.3(NF1):c.4578-9T>A
|
rs2067688959
|
|
|
NM_001042492.3(NF1):c.4635C>A (p.Tyr1545Ter)
|
rs754023358
|
|
|
NM_001042492.3(NF1):c.464G>A (p.Ser155Asn)
|
rs1555606113
|
|
|
NM_001042492.3(NF1):c.4658del (p.Pro1553fs)
|
rs1555619029
|
|
|
NM_001042492.3(NF1):c.4669dup (p.Thr1557fs)
|
rs1555619033
|
|
|
NM_001042492.3(NF1):c.466C>T (p.Arg156Cys)
|
rs755890242
|
|
|
NM_001042492.3(NF1):c.467G>T (p.Arg156Leu)
|
rs754096545
|
|
|
NM_001042492.3(NF1):c.469A>G (p.Ile157Val)
|
rs1555606118
|
|
|
NM_001042492.3(NF1):c.4720_4724del (p.Thr1574fs)
|
rs2067692232
|
|
|
NM_001042492.3(NF1):c.4724+1G>A
|
rs1555619056
|
|
|
NM_001042492.3(NF1):c.4738G>T (p.Glu1580Ter)
|
rs2067764827
|
|
|
NM_001042492.3(NF1):c.4744_4745del (p.Glu1582fs)
|
rs1555619395
|
|
|
NM_001042492.3(NF1):c.4786G>C (p.Ala1596Pro)
|
rs2151470213
|
|
|
NM_001042492.3(NF1):c.4787C>G (p.Ala1596Gly)
|
rs1567865042
|
|
|
NM_001042492.3(NF1):c.479+1G>T
|
rs1555606137
|
|
|
NM_001042492.3(NF1):c.479+3T>G
|
rs876658752
|
|
|
NM_001042492.3(NF1):c.479+5G>T
|
rs1567818033
|
|
|
NM_001042492.3(NF1):c.4796C>A (p.Ser1599Tyr)
|
rs1555619407
|
|
|
NM_001042492.3(NF1):c.47G>C (p.Arg16Pro)
|
rs1555594493
|
|
|
NM_001042492.3(NF1):c.4801G>A (p.Ala1601Thr)
|
rs754651519
|
|
|
NM_001042492.3(NF1):c.4804G>A (p.Gly1602Arg)
|
rs878853898
|
|
|
NM_001042492.3(NF1):c.4831C>T (p.Arg1611Trp)
|
rs1060500316
|
|
|
NM_001042492.3(NF1):c.4832G>A (p.Arg1611Gln)
|
rs876659197
|
|
|
NM_001042492.3(NF1):c.4834A>C (p.Arg1612=)
|
rs755137259
|
|
|
NM_001042492.3(NF1):c.4835+1G>A
|
rs1085307819
|
|
|
NM_001042492.3(NF1):c.4835+1G>T
|
rs1085307819
|
|
|
NM_001042492.3(NF1):c.4836-1G>A
|
rs1057518326
|
|
|
NM_001042492.3(NF1):c.4836-1G>T
|
rs1057518326
|
|
|
NM_001042492.3(NF1):c.4836-2A>G
|
rs1555533265
|
|
|
NM_001042492.3(NF1):c.484C>A (p.Gln162Lys)
|
rs1555607073
|
|
|
NM_001042492.3(NF1):c.4856A>G (p.Asn1619Ser)
|
rs1466167635
|
|
|
NM_001042492.3(NF1):c.4880T>A (p.Val1627Asp)
|
rs1567611231
|
|
|
NM_001042492.3(NF1):c.4884dup (p.Leu1629fs)
|
rs2508694547
|
|
|
NM_001042492.3(NF1):c.4886T>C (p.Leu1629Pro)
|
rs1555533288
|
|
|
NM_001042492.3(NF1):c.4903_4917del (p.Tyr1635_Tyr1639del)
|
rs2069327013
|
|
|
NM_001042492.3(NF1):c.4930G>A (p.Asp1644Asn)
|
rs1131691123
|
|
|
NM_001042492.3(NF1):c.4934T>G (p.Leu1645Arg)
|
rs1555533305
|
|
|
NM_001042492.3(NF1):c.494C>G (p.Thr165Ser)
|
rs876660009
|
|
|
NM_001042492.3(NF1):c.4958G>A (p.Arg1653His)
|
rs763413441
|
|
|
NM_001042492.3(NF1):c.4998del (p.Pro1667fs)
|
rs1135402867
|
|
|
NM_001042492.3(NF1):c.5018A>G (p.Asn1673Ser)
|
rs1201910133
|
|
|
NM_001042492.3(NF1):c.5020G>A (p.Val1674Ile)
|
rs1555533342
|
|
|
NM_001042492.3(NF1):c.5026G>A (p.Ala1676Thr)
|
rs756450772
|
|
|
NM_001042492.3(NF1):c.5030TCTATA[1] (p.Ile1679_Tyr1680del)
|
rs1135402868
|
|
|
NM_001042492.3(NF1):c.5033A>G (p.Tyr1678Cys)
|
rs1555533347
|
|
|
NM_001042492.3(NF1):c.5039A>G (p.Tyr1680Cys)
|
rs758361270
|
|
|
NM_001042492.3(NF1):c.5040T>C (p.Tyr1680=)
|
rs1555533351
|
|
|
NM_001042492.3(NF1):c.5040dup (p.Asn1681Ter)
|
rs2508696394
|
|
|
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.5114G>A (p.Arg1705Lys)
|
rs876660487
|
|
|
NM_001042492.3(NF1):c.5146G>A (p.Ala1716Thr)
|
rs767469374
|
|
|
NM_001042492.3(NF1):c.5157dup (p.Glu1720fs)
|
rs2508697639
|
|
|
NM_001042492.3(NF1):c.5169A>T (p.Gln1723His)
|
rs864622372
|
|
|
NM_001042492.3(NF1):c.5191T>G (p.Leu1731Val)
|
rs876658602
|
|
|
NM_001042492.3(NF1):c.5215G>C (p.Val1739Leu)
|
rs876659956
|
|
|
NM_001042492.3(NF1):c.5221C>A (p.His1741Asn)
|
rs780529277
|
|
|
NM_001042492.3(NF1):c.5268+2T>G
|
rs1555533416
|
|
|
NM_001042492.3(NF1):c.5269-14C>G
|
rs753463683
|
|
|
NM_001042492.3(NF1):c.5269-19C>A
|
rs755620051
|
|
|
NM_001042492.3(NF1):c.5269-1G>C
|
rs876660141
|
|
|
NM_001042492.3(NF1):c.5269-8C>G
|
rs1597831805
|
|
|
NM_001042492.3(NF1):c.5270T>G (p.Val1757Gly)
|
rs1021835871
|
|
|
NM_001042492.3(NF1):c.527A>G (p.Asp176Gly)
|
rs1567820732
|
|
|
NM_001042492.3(NF1):c.5285T>A (p.Val1762Asp)
|
rs1555533550
|
|
|
NM_001042492.3(NF1):c.5297C>G (p.Ser1766Ter)
|
rs1555533555
|
|
|
NM_001042492.3(NF1):c.5311A>G (p.Lys1771Glu)
|
rs1131691103
|
|
|
NM_001042492.3(NF1):c.5357C>A (p.Ser1786Ter)
|
rs1555533569
|
|
|
NM_001042492.3(NF1):c.5374del (p.Cys1792fs)
|
rs2069378463
|
|
|
NM_001042492.3(NF1):c.5450G>A (p.Cys1817Tyr)
|
rs1555533589
|
|
|
NM_001042492.3(NF1):c.5483G>A (p.Arg1828Gln)
|
rs876660298
|
|
|
NM_001042492.3(NF1):c.5488C>G (p.Arg1830Gly)
|
rs797045139
|
|
|
NM_001042492.3(NF1):c.5489G>A (p.Arg1830His)
|
rs771529172
|
|
|
NM_001042492.3(NF1):c.5489G>T (p.Arg1830Leu)
|
rs771529172
|
|
|
NM_001042492.3(NF1):c.548T>A (p.Ile183Asn)
|
rs2143707759
|
|
|
NM_001042492.3(NF1):c.5491T>G (p.Trp1831Gly)
|
rs2069382435
|
|
|
NM_001042492.3(NF1):c.5509G>A (p.Asp1837Asn)
|
rs771597781
|
|
|
NM_001042492.3(NF1):c.5517C>A (p.Ile1839=)
|
rs865839207
|
|
|
NM_001042492.3(NF1):c.5521C>T (p.Gln1841Ter)
|
rs786203570
|
|
|
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.5546A>T (p.Asp1849Val)
|
rs1170679293
|
|
|
NM_001042492.3(NF1):c.5548G>T (p.Val1850Phe)
|
rs1597832397
|
|
|
NM_001042492.3(NF1):c.5552C>T (p.Pro1851Leu)
|
rs1555533638
|
|
|
NM_001042492.3(NF1):c.556G>T (p.Asp186Tyr)
|
rs1567820765
|
|
|
NM_001042492.3(NF1):c.5572G>T (p.Ala1858Ser)
|
rs786203416
|
|
|
NM_001042492.3(NF1):c.5601G>A (p.Pro1867=)
|
rs766322878
|
|
|
NM_001042492.3(NF1):c.5609+5G>T
|
rs1597832498
|
|
|
NM_001042492.3(NF1):c.5609G>C (p.Arg1870Pro)
|
rs786202112
|
|
|
NM_001042492.3(NF1):c.5610-2A>T
|
rs1135402876
|
|
|
NM_001042492.3(NF1):c.5619C>G (p.Ala1873=)
|
rs786203335
|
|
|
NM_001042492.3(NF1):c.5625TCT[1] (p.Leu1877del)
|
rs1131691081
|
|
|
NM_001042492.3(NF1):c.5650T>C (p.Phe1884Leu)
|
rs1060500378
|
|
|
NM_001042492.3(NF1):c.5651T>G (p.Phe1884Cys)
|
rs2151544505
|
|
|
NM_001042492.3(NF1):c.5652T>G (p.Phe1884Leu)
|
rs1567613616
|
|
|
NM_001042492.3(NF1):c.5662del (p.Ile1888fs)
|
rs2069449497
|
|
|
NM_001042492.3(NF1):c.5668G>T (p.Gly1890Cys)
|
rs1597834706
|
|
|
NM_001042492.3(NF1):c.5705C>T (p.Ala1902Val)
|
rs1465309384
|
|
|
NM_001042492.3(NF1):c.5711A>C (p.Asn1904Thr)
|
rs864622647
|
|
|
NM_001042492.3(NF1):c.5711A>G (p.Asn1904Ser)
|
rs864622647
|
|
|
NM_001042492.3(NF1):c.5729C>G (p.Ser1910Cys)
|
rs751904277
|
|
|
NM_001042492.3(NF1):c.5741C>A (p.Thr1914Lys)
|
rs1555533873
|
|
|
NM_001042492.3(NF1):c.5744T>C (p.Leu1915Pro)
|
rs1555533875
|
|
|
NM_001042492.3(NF1):c.5768C>A (p.Thr1923Lys)
|
rs786203824
|
|
|
NM_001042492.3(NF1):c.5768C>G (p.Thr1923Arg)
|
rs786203824
|
|
|
NM_001042492.3(NF1):c.5780del (p.Leu1927fs)
|
rs1135402880
|
|
|
NM_001042492.3(NF1):c.5787G>C (p.Glu1929Asp)
|
rs786202591
|
|
|
NM_001042492.3(NF1):c.5787G>T (p.Glu1929Asp)
|
rs786202591
|
|
|
NM_001042492.3(NF1):c.5788T>C (p.Cys1930Arg)
|
rs2069454402
|
|
|
NM_001042492.3(NF1):c.5802del (p.Phe1934fs)
|
rs1597834952
|
|
|
NM_001042492.3(NF1):c.5813-1G>A
|
rs1057518974
|
|
|
NM_001042492.3(NF1):c.5813-279A>G
|
|
|
|
NM_001042492.3(NF1):c.5836T>A (p.Leu1946Met)
|
rs1422333640
|
|
|
NM_001042492.3(NF1):c.5851C>G (p.Pro1951Ala)
|
rs1555534391
|
|
|
NM_001042492.3(NF1):c.5854T>C (p.Trp1952Arg)
|
rs199474791
|
|
|
NM_001042492.3(NF1):c.5858T>C (p.Leu1953Pro)
|
rs199474792
|
|
|
NM_001042492.3(NF1):c.586+2T>C
|
rs1135402791
|
|
|
NM_001042492.3(NF1):c.586+5G>C
|
rs1060500284
|
|
|
NM_001042492.3(NF1):c.5867T>G (p.Leu1956Arg)
|
rs1597840087
|
|
|
NM_001042492.3(NF1):c.587-14T>A
|
rs940581106
|
|
|
NM_001042492.3(NF1):c.587-2A>G
|
rs1057518360
|
|
|
NM_001042492.3(NF1):c.5872del (p.Arg1958fs)
|
rs2069603045
|
|
|
NM_001042492.3(NF1):c.58C>T (p.Gln20Ter)
|
rs1567786905
|
|
|
NM_001042492.3(NF1):c.590C>G (p.Thr197Arg)
|
rs1597658021
|
|
|
NM_001042492.3(NF1):c.5924T>C (p.Leu1975Pro)
|
rs1555534411
|
|
|
NM_001042492.3(NF1):c.592G>A (p.Ala198Thr)
|
rs1555608643
|
|
|
NM_001042492.3(NF1):c.5933T>C (p.Leu1978Pro)
|
rs2069606635
|
|
|
NM_001042492.3(NF1):c.5933T>G (p.Leu1978Arg)
|
rs2069606635
|
|
|
NM_001042492.3(NF1):c.5970A>G (p.Pro1990=)
|
rs876658601
|
|
|
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>C
|
rs1555594500
|
|
|
NM_001042492.3(NF1):c.60+2T>C
|
rs2143145948
|
|
|
NM_001042492.3(NF1):c.6001G>A (p.Gly2001Arg)
|
rs199474751
|
|
|
NM_001042492.3(NF1):c.6006+4T>C
|
rs754909198
|
|
|
NM_001042492.3(NF1):c.6006G>C (p.Gln2002His)
|
rs1555534432
|
|
|
NM_001042492.3(NF1):c.6022G>C (p.Asp2008His)
|
rs786201924
|
|
|
NM_001042492.3(NF1):c.6052A>C (p.Ser2018Arg)
|
rs2151553286
|
|
|
NM_001042492.3(NF1):c.61-4del
|
rs551568608
|
|
|
NM_001042492.3(NF1):c.61-7486G>T
|
rs1597617010
|
|
|
NM_001042492.3(NF1):c.610dup (p.Leu204fs)
|
rs1135402793
|
|
|
NM_001042492.3(NF1):c.6118T>C (p.Ser2040Pro)
|
rs1567616704
|
|
|
NM_001042492.3(NF1):c.6119C>T (p.Ser2040Phe)
|
rs2069671270
|
|
|
NM_001042492.3(NF1):c.6147+2T>C
|
rs1555534621
|
|
|
NM_001042492.3(NF1):c.6147+8C>G
|
rs182709912
|
|
|
NM_001042492.3(NF1):c.6147G>A (p.Lys2049=)
|
rs1135402882
|
|
|
NM_001042492.3(NF1):c.6147G>C (p.Lys2049Asn)
|
rs1135402882
|
|
|
NM_001042492.3(NF1):c.6148-1G>C
|
rs1555534661
|
|
|
NM_001042492.3(NF1):c.6148-2A>G
|
rs2069681259
|
|
|
NM_001042492.3(NF1):c.615G>A (p.Lys205=)
|
rs1135402794
|
|
|
NM_001042492.3(NF1):c.6162G>A (p.Met2054Ile)
|
rs876660651
|
|
|
NM_001042492.3(NF1):c.6196A>G (p.Thr2066Ala)
|
rs1567616928
|
|
|
NM_001042492.3(NF1):c.6221del (p.Met2074fs)
|
rs2069683635
|
|
|
NM_001042492.3(NF1):c.6293C>T (p.Ala2098Val)
|
rs764106639
|
|
|
NM_001042492.3(NF1):c.6295C>T (p.His2099Tyr)
|
rs1060500382
|
|
|
NM_001042492.3(NF1):c.6304dup (p.Tyr2102fs)
|
rs1555534712
|
|
|
NM_001042492.3(NF1):c.633A>G (p.Ala211=)
|
rs876660800
|
|
|
NM_001042492.3(NF1):c.6355A>T (p.Arg2119Ter)
|
rs2151554939
|
|
|
NM_001042492.3(NF1):c.6365C>T (p.Thr2122Ile)
|
rs878853907
|
|
|
NM_001042492.3(NF1):c.6374T>C (p.Leu2125Pro)
|
rs1597843129
|
|
|
NM_001042492.3(NF1):c.6401_6402del (p.Cys2134fs)
|
rs1597843186
|
|
|
NM_001042492.3(NF1):c.6424A>C (p.Ser2142Arg)
|
rs1135402886
|
|
|
NM_001042492.3(NF1):c.6428-11T>G
|
rs2151555896
|
|
|
NM_001042492.3(NF1):c.6428-2A>C
|
rs1060500312
|
|
|
NM_001042492.3(NF1):c.6428-3C>A
|
rs374014162
|
|
|
NM_001042492.3(NF1):c.6428-3C>G
|
rs374014162
|
|
|
NM_001042492.3(NF1):c.6462dup (p.Glu2155fs)
|
rs1135402888
|
|
|
NM_001042492.3(NF1):c.6473T>A (p.Leu2158Ter)
|
rs2151556088
|
|
|
NM_001042492.3(NF1):c.64C>T (p.Pro22Ser)
|
rs1597625794
|
|
|
NM_001042492.3(NF1):c.6527T>C (p.Ile2176Thr)
|
rs2069705362
|
|
|
NM_001042492.3(NF1):c.6535C>T (p.Arg2179Cys)
|
rs878853908
|
|
|
NM_001042492.3(NF1):c.655-2A>C
|
rs1555608734
|
|
|
NM_001042492.3(NF1):c.6571T>C (p.Ser2191Pro)
|
rs754630324
|
|
|
NM_001042492.3(NF1):c.6600del (p.Ser2201fs)
|
rs1135402892
|
|
|
NM_001042492.3(NF1):c.6623C>G (p.Ala2208Gly)
|
rs1555534886
|
|
|
NM_001042492.3(NF1):c.6630G>A (p.Leu2210=)
|
rs886052801
|
|
|
NM_001042492.3(NF1):c.6642+18A>G
|
rs1555534893
|
|
|
NM_001042492.3(NF1):c.6642G>T (p.Glu2214Asp)
|
rs876660207
|
|
|
NM_001042492.3(NF1):c.6643-1G>A
|
|
|
|
NM_001042492.3(NF1):c.6647G>T (p.Cys2216Phe)
|
rs1567617669
|
|
|
NM_001042492.3(NF1):c.6657T>G (p.Asp2219Glu)
|
rs786203831
|
|
|
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.6685T>C (p.Trp2229Arg)
|
rs1060500342
|
|
|
NM_001042492.3(NF1):c.6691G>A (p.Glu2231Lys)
|
rs1024484381
|
|
|
NM_001042492.3(NF1):c.6697G>A (p.Ala2233Thr)
|
rs2069718829
|
|
|
NM_001042492.3(NF1):c.6704+4T>C
|
rs1555534930
|
|
|
NM_001042492.3(NF1):c.6705-17G>A
|
rs1064795966
|
|
|
NM_001042492.3(NF1):c.6705-1G>A
|
rs1060500356
|
|
|
NM_001042492.3(NF1):c.6705-3C>A
|
rs1131691079
|
|
|
NM_001042492.3(NF1):c.6705-5T>G
|
rs1597844956
|
|
|
NM_001042492.3(NF1):c.6777del (p.Ser2260fs)
|
rs2508759534
|
|
|
NM_001042492.3(NF1):c.677A>C (p.Asn226Thr)
|
rs770339628
|
|
|
NM_001042492.3(NF1):c.6782A>G (p.His2261Arg)
|
rs201336602
|
|
|
NM_001042492.3(NF1):c.6784G>T (p.Gly2262Trp)
|
rs1392981001
|
|
|
NM_001042492.3(NF1):c.6805C>T (p.Arg2269Cys)
|
rs1555534961
|
|
|
NM_001042492.3(NF1):c.6819+2T>C
|
rs1135402894
|
|
|
NM_001042492.3(NF1):c.6819+3A>G
|
rs1555534966
|
|
|
NM_001042492.3(NF1):c.6819G>A (p.Lys2273=)
|
rs1060500373
|
|
|
NM_001042492.3(NF1):c.6819G>T (p.Lys2273Asn)
|
rs1060500373
|
|
|
NM_001042492.3(NF1):c.681T>C (p.Tyr227=)
|
rs745804540
|
|
|
NM_001042492.3(NF1):c.6820-10T>G
|
rs1597845883
|
|
|
NM_001042492.3(NF1):c.6820-2A>G
|
|
|
|
NM_001042492.3(NF1):c.6820-6T>C
|
rs1597845896
|
|
|
NM_001042492.3(NF1):c.6820-8C>T
|
rs1060503909
|
|
|
NM_001042492.3(NF1):c.6833dup (p.Cys2278fs)
|
rs1555535027
|
|
|
NM_001042492.3(NF1):c.6864A>G (p.Gln2288=)
|
rs1064794756
|
|
|
NM_001042492.3(NF1):c.6893T>C (p.Leu2298Pro)
|
rs1597846070
|
|
|
NM_001042492.3(NF1):c.6920A>G (p.Lys2307Arg)
|
rs765418194
|
|
|
NM_001042492.3(NF1):c.6921+1G>A
|
rs1060500355
|
|
|
NM_001042492.3(NF1):c.6921+3A>G
|
rs1085307885
|
|
|
NM_001042492.3(NF1):c.6922-3C>T
|
rs876659438
|
|
|
NM_001042492.3(NF1):c.6939del (p.Ala2314fs)
|
rs2069790028
|
|
|
NM_001042492.3(NF1):c.6952G>T (p.Val2318Leu)
|
rs760528229
|
|
|
NM_001042492.3(NF1):c.6968T>C (p.Leu2323Pro)
|
rs1131691267
|
|
|
NM_001042492.3(NF1):c.6978T>C (p.Asp2326=)
|
rs1135402896
|
|
|
NM_001042492.3(NF1):c.7000G>C (p.Gly2334Arg)
|
rs1597848100
|
|
|
NM_001042492.3(NF1):c.7006G>T (p.Ala2336Ser)
|
rs587781428
|
|
|
NM_001042492.3(NF1):c.7009CTT[1] (p.Leu2338del)
|
rs2069792818
|
|
|
NM_001042492.3(NF1):c.7010T>G (p.Leu2337Arg)
|
rs1555535179
|
|
|
NM_001042492.3(NF1):c.7025T>G (p.Leu2342Arg)
|
rs2151561874
|
|
|
NM_001042492.3(NF1):c.7027C>T (p.His2343Tyr)
|
rs781578248
|
|
|
NM_001042492.3(NF1):c.702_703inv (p.Tyr235His)
|
|
|
|
NM_001042492.3(NF1):c.703T>C (p.Tyr235His)
|
rs864622465
|
|
|
NM_001042492.3(NF1):c.7046G>T (p.Arg2349Leu)
|
rs864622065
|
|
|
NM_001042492.3(NF1):c.7057_7059del (p.Asp2353del)
|
rs786203558
|
|
|
NM_001042492.3(NF1):c.7062+2T>C
|
rs1135402898
|
|
|
NM_001042492.3(NF1):c.7063-3T>G
|
rs1241158120
|
|
|
NM_001042492.3(NF1):c.7063-4A>G
|
rs749805168
|
|
|
NM_001042492.3(NF1):c.706C>G (p.Gln236Glu)
|
rs1597658664
|
|
|
NM_001042492.3(NF1):c.7090C>T (p.Arg2364Trp)
|
rs1567620403
|
|
|
NM_001042492.3(NF1):c.7153AACTTT[1] (p.2385NF[1])
|
rs864622639
|
|
|
NM_001042492.3(NF1):c.7157T>C (p.Phe2386Ser)
|
rs1555535439
|
|
|
NM_001042492.3(NF1):c.7181T>G (p.Leu2394Arg)
|
rs1135402899
|
|
|
NM_001042492.3(NF1):c.7184T>G (p.Leu2395Ter)
|
rs2508780368
|
|
|
NM_001042492.3(NF1):c.7189+8dup
|
rs753952604
|
|
|
NM_001042492.3(NF1):c.7189G>A (p.Gly2397Arg)
|
rs1135402900
|
|
|
NM_001042492.3(NF1):c.7190-12T>A
|
rs1597858284
|
|
|
NM_001042492.3(NF1):c.7190-1G>A
|
rs2070073417
|
|
|
NM_001042492.3(NF1):c.7190-33TTGT[7]
|
rs149197458
|
|
|
NM_001042492.3(NF1):c.7190-5T>G
|
rs748245325
|
|
|
NM_001042492.3(NF1):c.7201C>T (p.Pro2401Ser)
|
rs1597858372
|
|
|
NM_001042492.3(NF1):c.7225A>G (p.Thr2409Ala)
|
rs1555536021
|
|
|
NM_001042492.3(NF1):c.7246C>T (p.Leu2416=)
|
rs786201310
|
|
|
NM_001042492.3(NF1):c.7262A>G (p.Asn2421Ser)
|
rs774339063
|
|
|
NM_001042492.3(NF1):c.7278_7279del (p.Cys2426_Asp2427delinsTer)
|
rs2070076932
|
|
|
NM_001042492.3(NF1):c.7297A>G (p.Thr2433Ala)
|
rs1597858568
|
|
|
NM_001042492.3(NF1):c.730+1G>T
|
rs1060500274
|
|
|
NM_001042492.3(NF1):c.7317AGC[1] (p.Ala2441del)
|
rs1085307506
|
|
|
NM_001042492.3(NF1):c.7321+1G>A
|
rs1135402903
|
|
|
NM_001042492.3(NF1):c.7321+1G>T
|
rs1135402903
|
|
|
NM_001042492.3(NF1):c.7322-2A>G
|
rs2151574219
|
|
|
NM_001042492.3(NF1):c.7340AAG[1] (p.Glu2448del)
|
rs587781961
|
|
|
NM_001042492.3(NF1):c.7368A>C (p.Lys2456Asn)
|
rs201287021
|
|
|
NM_001042492.3(NF1):c.7369C>T (p.His2457Tyr)
|
rs768404575
|
|
|
NM_001042492.3(NF1):c.7373G>A (p.Arg2458Lys)
|
rs1555536130
|
|
|
NM_001042492.3(NF1):c.737C>A (p.Ala246Glu)
|
rs2066155612
|
|
|
NM_001042492.3(NF1):c.7415C>G (p.Pro2472Arg)
|
rs786202184
|
|
|
NM_001042492.3(NF1):c.7424C>T (p.Thr2475Ile)
|
rs770532573
|
|
|
NM_001042492.3(NF1):c.7426T>C (p.Tyr2476His)
|
rs864622745
|
|
|
NM_001042492.3(NF1):c.7429C>G (p.Pro2477Ala)
|
rs876658722
|
|
|
NM_001042492.3(NF1):c.7442G>T (p.Gly2481Val)
|
rs786202540
|
|
|
NM_001042492.3(NF1):c.7446C>A (p.Asp2482Glu)
|
rs876660614
|
|
|
NM_001042492.3(NF1):c.7458-3C>G
|
rs1158267419
|
|
|
NM_001042492.3(NF1):c.7481G>A (p.Trp2494Ter)
|
rs2070167232
|
|
|
NM_001042492.3(NF1):c.7496G>T (p.Gly2499Val)
|
rs375176282
|
|
|
NM_001042492.3(NF1):c.74C>T (p.Thr25Ile)
|
rs1555604874
|
|
|
NM_001042492.3(NF1):c.7509C>T (p.Tyr2503=)
|
rs1555536359
|
|
|
NM_001042492.3(NF1):c.7526C>T (p.Pro2509Leu)
|
rs786202146
|
|
|
NM_001042492.3(NF1):c.7537C>T (p.Gln2513Ter)
|
rs2070170274
|
|
|
NM_001042492.3(NF1):c.7550G>A (p.Arg2517Gln)
|
rs755260088
|
|
|
NM_001042492.3(NF1):c.755TGG[1] (p.Val253del)
|
rs1060500323
|
|
|
NM_001042492.3(NF1):c.7581del (p.Gln2528fs)
|
rs878853917
|
|
|
NM_001042492.3(NF1):c.7594G>A (p.Ala2532Thr)
|
rs1555536373
|
|
|
NM_001042492.3(NF1):c.7635T>A (p.Asp2545Glu)
|
rs876659530
|
|
|
NM_001042492.3(NF1):c.7663A>G (p.Lys2555Glu)
|
rs786203792
|
|
|
NM_001042492.3(NF1):c.7693A>G (p.Thr2565Ala)
|
rs786202548
|
|
|
NM_001042492.3(NF1):c.7700C>G (p.Pro2567Arg)
|
rs754511534
|
|
|
NM_001042492.3(NF1):c.7744C>T (p.Gln2582Ter)
|
rs587781651
|
|
|
NM_001042492.3(NF1):c.7767G>C (p.Gln2589His)
|
rs587782168
|
|
|
NM_001042492.3(NF1):c.7774C>A (p.His2592Asn)
|
rs749460130
|
|
|
NM_001042492.3(NF1):c.7781G>T (p.Arg2594Leu)
|
rs774781617
|
|
|
NM_001042492.3(NF1):c.7793T>C (p.Val2598Ala)
|
rs760531845
|
|
|
NM_001042492.3(NF1):c.7804A>T (p.Asn2602Tyr)
|
rs150657839
|
|
|
NM_001042492.3(NF1):c.7807G>C (p.Val2603Leu)
|
rs766135206
|
|
|
NM_001042492.3(NF1):c.7830_7833del (p.Thr2611fs)
|
|
|
|
NM_001042492.3(NF1):c.7846C>T (p.Gln2616Ter)
|
rs1555536713
|
|
|
NM_001042492.3(NF1):c.784C>T (p.Arg262Cys)
|
rs754343223
|
|
|
NM_001042492.3(NF1):c.7867C>G (p.Leu2623Val)
|
rs1555536721
|
|
|
NM_001042492.3(NF1):c.7870-13dup
|
rs369360556
|
|
|
NM_001042492.3(NF1):c.7870-20A>G
|
rs574898272
|
|
|
NM_001042492.3(NF1):c.7909C>T (p.Arg2637Ter)
|
rs786201367
|
|
|
NM_001042492.3(NF1):c.7915C>G (p.Leu2639Val)
|
rs1057518362
|
|
|
NM_001042492.3(NF1):c.7920T>G (p.Tyr2640Ter)
|
rs1060500333
|
|
|
NM_001042492.3(NF1):c.7931C>A (p.Ala2644Glu)
|
rs766494934
|
|
|
NM_001042492.3(NF1):c.7947_7948del (p.Phe2650fs)
|
rs2070298589
|
|
|
NM_001042492.3(NF1):c.7963C>A (p.Pro2655Thr)
|
rs587781791
|
|
|
NM_001042492.3(NF1):c.7963C>T (p.Pro2655Ser)
|
rs587781791
|
|
|
NM_001042492.3(NF1):c.7970+3A>G
|
rs1567627282
|
|
|
NM_001042492.3(NF1):c.7970+4_7970+7del
|
rs1064794279
|
|
|
NM_001042492.3(NF1):c.7970+5G>T
|
rs1567627286
|
|
|
NM_001042492.3(NF1):c.7970+6T>C
|
rs1555536775
|
|
|
NM_001042492.3(NF1):c.7971-17C>G
|
|
|
|
NM_001042492.3(NF1):c.7971-1G>T
|
rs1417908560
|
|
|
NM_001042492.3(NF1):c.7971-321C>G
|
rs2070316606
|
|
|
NM_001042492.3(NF1):c.8061T>C (p.Ser2687=)
|
rs786202936
|
|
|
NM_001042492.3(NF1):c.808C>T (p.Gln270Ter)
|
rs1555608970
|
|
|
NM_001042492.3(NF1):c.8138G>A (p.Arg2713Gln)
|
rs1170836879
|
|
|
NM_001042492.3(NF1):c.8161-3C>G
|
rs786203684
|
|
|
NM_001042492.3(NF1):c.8161-3C>T
|
rs786203684
|
|
|
NM_001042492.3(NF1):c.8183C>T (p.Ala2728Val)
|
rs760973918
|
|
|
NM_001042492.3(NF1):c.819_821del (p.Leu274del)
|
rs2143786045
|
|
|
NM_001042492.3(NF1):c.8222C>T (p.Thr2741Met)
|
rs144178015
|
|
|
NM_001042492.3(NF1):c.8227C>G (p.Leu2743Val)
|
rs1597870180
|
|
|
NM_001042492.3(NF1):c.8477G>C (p.Ser2826Thr)
|
rs1057523477
|
|
|
NM_001042492.3(NF1):c.848A>G (p.Asp283Gly)
|
rs878853921
|
|
|
NM_001042492.3(NF1):c.8497A>C (p.Asn2833His)
|
rs786202863
|
|
|
NM_001042492.3(NF1):c.8511G>A (p.Lys2837=)
|
rs752398289
|
|
|
NM_001042492.3(NF1):c.872A>C (p.Glu291Ala)
|
rs876660171
|
|
|
NM_001042492.3(NF1):c.885T>A (p.Asn295Lys)
|
rs864622300
|
|
|
NM_001042492.3(NF1):c.886A>T (p.Lys296Ter)
|
rs1135402798
|
|
|
NM_001042492.3(NF1):c.888+1G>C
|
rs1135402799
|
|
|
NM_001042492.3(NF1):c.888+789A>G
|
rs1597660974
|
|
|
NM_001042492.3(NF1):c.889-12T>A
|
|
|
|
NM_001042492.3(NF1):c.889-1G>A
|
rs587781517
|
|
|
NM_001042492.3(NF1):c.889-21C>A
|
rs753797445
|
|
|
NM_001042492.3(NF1):c.923C>G (p.Ala308Gly)
|
rs876660836
|
|
|
NM_001042492.3(NF1):c.943C>T (p.Gln315Ter)
|
rs766011053
|
|
|
NM_001042492.3(NF1):c.958G>C (p.Ala320Pro)
|
rs2066507272
|
|
|
NM_001042492.3(NF1):c.965T>C (p.Ile322Thr)
|
rs1417994243
|
|
|
NM_001042492.3(NF1):c.968C>A (p.Ala323Asp)
|
rs2066507556
|
|
|
NM_001042492.3(NF1):c.980T>G (p.Leu327Arg)
|
rs201624827
|
|
|
NM_001042492.3(NF1):c.987A>G (p.Lys329=)
|
rs2066508210
|
|
|
NM_001042492.3(NF1):c.989C>T (p.Ala330Val)
|
rs1555610898
|
|
|
NM_001042492.3(NF1):c.999C>A (p.Tyr333Ter)
|
rs1466912192
|
|
|
NM_001042492.3(NF1):c.99A>G (p.Lys33=)
|
rs786203280
|
|