NM_001042492.3(NF1):c.*871del
|
rs759306393
|
0.01272
|
NM_001042492.3(NF1):c.3198-3C>T
|
rs777759972
|
0.00502
|
NM_001042492.3(NF1):c.528T>A (p.Asp176Glu)
|
rs112306990
|
0.00398
|
NM_001042492.3(NF1):c.3498C>T (p.Gly1166=)
|
rs2066733
|
0.00392
|
NM_001042492.3(NF1):c.3198-4T>C
|
rs587782218
|
0.00387
|
NM_001042492.3(NF1):c.1994C>T (p.Ser665Phe)
|
rs145891889
|
0.00220
|
NM_001042492.3(NF1):c.5035A>G (p.Ile1679Val)
|
rs147327414
|
0.00195
|
NM_001042492.3(NF1):c.*126G>A
|
rs184715593
|
0.00185
|
NM_001042492.3(NF1):c.7584A>G (p.Gln2528=)
|
rs55865524
|
0.00127
|
NM_001042492.3(NF1):c.*1899A>G
|
rs547663480
|
0.00100
|
NM_001042492.3(NF1):c.3867C>T (p.Phe1289=)
|
rs138186428
|
0.00089
|
NM_001042492.3(NF1):c.3270A>C (p.Gly1090=)
|
rs150015024
|
0.00079
|
NM_001042492.3(NF1):c.*3189G>A
|
rs548353495
|
0.00071
|
NM_001042492.3(NF1):c.*875T>A
|
rs886052806
|
0.00070
|
NM_001042492.3(NF1):c.7595C>T (p.Ala2532Val)
|
rs148154172
|
0.00066
|
NM_001042492.3(NF1):c.2033C>T (p.Pro678Leu)
|
rs17881753
|
0.00058
|
NM_001042492.3(NF1):c.6379A>G (p.Ile2127Val)
|
rs200022550
|
0.00053
|
NM_001042492.3(NF1):c.731-6A>C
|
rs369366499
|
0.00037
|
NM_001042492.3(NF1):c.*3091A>C
|
rs570154156
|
0.00032
|
NM_001042492.3(NF1):c.8041A>G (p.Ile2681Val)
|
rs146315101
|
0.00031
|
NM_001042492.3(NF1):c.6922-16A>G
|
rs202158964
|
0.00030
|
NM_001042492.3(NF1):c.1976G>A (p.Arg659Gln)
|
rs151138158
|
0.00029
|
NM_001042492.3(NF1):c.5906A>T (p.Gln1969Leu)
|
rs143502927
|
0.00029
|
NM_001042492.3(NF1):c.7998C>T (p.Asn2666=)
|
rs747307832
|
0.00024
|
NM_001042492.3(NF1):c.*2247T>C
|
rs745818146
|
0.00021
|
NM_001042492.3(NF1):c.1062+113A>G
|
rs868553650
|
0.00021
|
NM_001042492.3(NF1):c.5269-9A>G
|
rs544515671
|
0.00021
|
NM_001042492.3(NF1):c.*1208C>T
|
rs556230487
|
0.00019
|
NM_001042492.3(NF1):c.1032A>G (p.Leu344=)
|
rs199832006
|
0.00019
|
NM_001042492.3(NF1):c.4749A>G (p.Glu1583=)
|
rs144091165
|
0.00019
|
NM_001042492.3(NF1):c.*3266G>A
|
rs548117626
|
0.00018
|
NM_001042492.3(NF1):c.6172A>G (p.Ile2058Val)
|
rs201712827
|
0.00017
|
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.2133C>T (p.Arg711=)
|
rs148085908
|
0.00014
|
NM_001042492.3(NF1):c.*3227A>G
|
rs1050612282
|
0.00013
|
NM_001042492.3(NF1):c.2032C>G (p.Pro678Ala)
|
rs758691069
|
0.00013
|
NM_001042492.3(NF1):c.61-13del
|
rs1215659707
|
0.00013
|
NM_001042492.3(NF1):c.7026G>A (p.Leu2342=)
|
rs371581213
|
0.00013
|
NM_001042492.3(NF1):c.2191C>T (p.Leu731Phe)
|
rs185204667
|
0.00012
|
NM_001042492.3(NF1):c.5049C>T (p.Asn1683=)
|
rs140994965
|
0.00012
|
NM_001042492.3(NF1):c.3621A>G (p.Arg1207=)
|
rs141390152
|
0.00011
|
NM_001042492.3(NF1):c.7354C>T (p.Arg2452Cys)
|
rs377662483
|
0.00011
|
NM_001042492.3(NF1):c.2178G>C (p.Val726=)
|
rs369590240
|
0.00010
|
NM_001042492.3(NF1):c.*160A>T
|
rs17882413
|
0.00009
|
NM_001042492.3(NF1):c.*3248G>A
|
rs527971565
|
0.00009
|
NM_001042492.3(NF1):c.4724+11A>G
|
rs368649260
|
0.00009
|
NM_001042492.3(NF1):c.4836-3T>C
|
rs372460369
|
0.00009
|
NM_001042492.3(NF1):c.5513C>G (p.Ser1838Cys)
|
rs368654378
|
0.00009
|
NM_001042492.3(NF1):c.5757G>A (p.Glu1919=)
|
rs141077224
|
0.00009
|
NM_001042492.3(NF1):c.8105A>T (p.Tyr2702Phe)
|
rs201824349
|
0.00008
|
NM_001042492.3(NF1):c.8377+1659C>T
|
rs572658615
|
0.00008
|
NM_001042492.3(NF1):c.1392+5G>T
|
rs199999754
|
0.00007
|
NM_001042492.3(NF1):c.1392+6A>T
|
rs200798969
|
0.00007
|
NM_001042492.3(NF1):c.1528-10T>C
|
rs376174484
|
0.00007
|
NM_001042492.3(NF1):c.4943C>T (p.Thr1648Ile)
|
rs376655102
|
0.00007
|
NM_001042492.3(NF1):c.*101T>C
|
rs962788938
|
0.00006
|
NM_001042492.3(NF1):c.*1A>C
|
rs876658388
|
0.00006
|
NM_001042492.3(NF1):c.3217A>G (p.Met1073Val)
|
rs199474740
|
0.00006
|
NM_001042492.3(NF1):c.3686A>G (p.Asn1229Ser)
|
rs140523180
|
0.00006
|
NM_001042492.3(NF1):c.4526G>A (p.Arg1509His)
|
rs546073780
|
0.00006
|
NM_001042492.3(NF1):c.5961G>A (p.Gln1987=)
|
rs757536610
|
0.00006
|
NM_001042492.3(NF1):c.7006G>A (p.Ala2336Thr)
|
rs587781428
|
0.00006
|
NM_001042492.3(NF1):c.7520C>T (p.Thr2507Ile)
|
rs149055633
|
0.00006
|
NM_001042492.3(NF1):c.7870-8C>A
|
rs372441422
|
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.4207G>A (p.Gly1403Ser)
|
rs138227618
|
0.00005
|
NM_001042492.3(NF1):c.61-16301G>A
|
rs1251741983
|
0.00005
|
NM_001042492.3(NF1):c.*1202A>C
|
rs886052807
|
0.00004
|
NM_001042492.3(NF1):c.*2071G>A
|
rs886052811
|
0.00004
|
NM_001042492.3(NF1):c.181A>G (p.Ile61Val)
|
rs754295034
|
0.00004
|
NM_001042492.3(NF1):c.231A>T (p.Lys77Asn)
|
rs373563053
|
0.00004
|
NM_001042492.3(NF1):c.2991-4A>G
|
rs754414489
|
0.00004
|
NM_001042492.3(NF1):c.3358G>C (p.Val1120Leu)
|
rs200594167
|
0.00004
|
NM_001042492.3(NF1):c.3371G>A (p.Ser1124Asn)
|
rs374472758
|
0.00004
|
NM_001042492.3(NF1):c.3484A>G (p.Met1162Val)
|
rs773968270
|
0.00004
|
NM_001042492.3(NF1):c.3690G>T (p.Val1230=)
|
rs183296277
|
0.00004
|
NM_001042492.3(NF1):c.3883A>G (p.Thr1295Ala)
|
rs143836226
|
0.00004
|
NM_001042492.3(NF1):c.3947A>G (p.His1316Arg)
|
rs751023085
|
0.00004
|
NM_001042492.3(NF1):c.4111-4G>A
|
rs764877783
|
0.00004
|
NM_001042492.3(NF1):c.4445T>C (p.Ile1482Thr)
|
rs746994734
|
0.00004
|
NM_001042492.3(NF1):c.5255A>G (p.Lys1752Arg)
|
rs864622373
|
0.00004
|
NM_001042492.3(NF1):c.5257G>A (p.Val1753Ile)
|
rs148540952
|
0.00004
|
NM_001042492.3(NF1):c.61-9T>C
|
rs780956522
|
0.00004
|
NM_001042492.3(NF1):c.6428-3C>T
|
rs374014162
|
0.00004
|
NM_001042492.3(NF1):c.6643-13T>C
|
rs764601493
|
0.00004
|
NM_001042492.3(NF1):c.6664A>G (p.Thr2222Ala)
|
rs745945481
|
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.898C>T (p.Leu300=)
|
rs786201926
|
0.00004
|
NM_001042492.3(NF1):c.*2073T>C
|
rs139460673
|
0.00003
|
NM_001042492.3(NF1):c.*506T>A
|
rs886052804
|
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.178A>G (p.Thr60Ala)
|
rs546729596
|
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.2856A>C (p.Leu952Phe)
|
rs750488772
|
0.00003
|
NM_001042492.3(NF1):c.2999G>A (p.Arg1000His)
|
rs753082620
|
0.00003
|
NM_001042492.3(NF1):c.3604G>T (p.Ala1202Ser)
|
rs146641724
|
0.00003
|
NM_001042492.3(NF1):c.4185G>T (p.Gln1395His)
|
rs775206746
|
0.00003
|
NM_001042492.3(NF1):c.4835+5G>C
|
rs786201306
|
0.00003
|
NM_001042492.3(NF1):c.4942A>G (p.Thr1648Ala)
|
rs770558820
|
0.00003
|
NM_001042492.3(NF1):c.6022G>A (p.Asp2008Asn)
|
rs786201924
|
0.00003
|
NM_001042492.3(NF1):c.6082G>A (p.Ala2028Thr)
|
rs767869530
|
0.00003
|
NM_001042492.3(NF1):c.6642+4T>C
|
rs587781687
|
0.00003
|
NM_001042492.3(NF1):c.67A>G (p.Ile23Val)
|
rs542824372
|
0.00003
|
NM_001042492.3(NF1):c.7003A>G (p.Thr2335Ala)
|
rs370209920
|
0.00003
|
NM_001042492.3(NF1):c.7458-7C>T
|
rs758106590
|
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.*194A>C
|
rs1445645953
|
0.00002
|
NM_001042492.3(NF1):c.*2540T>G
|
rs896039933
|
0.00002
|
NM_001042492.3(NF1):c.1213A>G (p.Thr405Ala)
|
rs587782233
|
0.00002
|
NM_001042492.3(NF1):c.1223A>G (p.Tyr408Cys)
|
rs876660344
|
0.00002
|
NM_001042492.3(NF1):c.1247G>A (p.Arg416Gln)
|
rs1343309278
|
0.00002
|
NM_001042492.3(NF1):c.145T>A (p.Tyr49Asn)
|
rs764367878
|
0.00002
|
NM_001042492.3(NF1):c.1620G>T (p.Glu540Asp)
|
rs766748586
|
0.00002
|
NM_001042492.3(NF1):c.1701A>G (p.Val567=)
|
rs786203819
|
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.212T>C (p.Phe71Ser)
|
rs752396270
|
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.2458G>A (p.Val820Met)
|
rs761408020
|
0.00002
|
NM_001042492.3(NF1):c.2617C>T (p.Arg873Cys)
|
rs199474739
|
0.00002
|
NM_001042492.3(NF1):c.2819C>G (p.Thr940Ser)
|
rs368995630
|
0.00002
|
NM_001042492.3(NF1):c.2843A>G (p.Gln948Arg)
|
rs746384536
|
0.00002
|
NM_001042492.3(NF1):c.3063A>C (p.Val1021=)
|
rs768611775
|
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.3765A>G (p.Gln1255=)
|
rs766896025
|
0.00002
|
NM_001042492.3(NF1):c.3970A>G (p.Thr1324Ala)
|
rs189522993
|
0.00002
|
NM_001042492.3(NF1):c.4009C>T (p.Arg1337Trp)
|
rs146306756
|
0.00002
|
NM_001042492.3(NF1):c.4110+4T>C
|
rs587781700
|
0.00002
|
NM_001042492.3(NF1):c.4262C>T (p.Pro1421Leu)
|
rs753997885
|
0.00002
|
NM_001042492.3(NF1):c.4285A>G (p.Lys1429Glu)
|
rs758915600
|
0.00002
|
NM_001042492.3(NF1):c.4286A>G (p.Lys1429Arg)
|
rs778056258
|
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.4958G>A (p.Arg1653His)
|
rs763413441
|
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.5289A>G (p.Gln1763=)
|
rs199703296
|
0.00002
|
NM_001042492.3(NF1):c.529A>G (p.Ile177Val)
|
rs766213678
|
0.00002
|
NM_001042492.3(NF1):c.5381T>C (p.Val1794Ala)
|
rs142867979
|
0.00002
|
NM_001042492.3(NF1):c.5423C>T (p.Thr1808Met)
|
rs760649828
|
0.00002
|
NM_001042492.3(NF1):c.5426C>T (p.Pro1809Leu)
|
rs587782220
|
0.00002
|
NM_001042492.3(NF1):c.5470A>G (p.Ile1824Val)
|
rs370858405
|
0.00002
|
NM_001042492.3(NF1):c.5680G>C (p.Glu1894Gln)
|
rs774893767
|
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.7055A>G (p.Asn2352Ser)
|
rs763082717
|
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.*1150C>T
|
rs577642473
|
0.00001
|
NM_001042492.3(NF1):c.*1187C>A
|
rs1184430338
|
0.00001
|
NM_001042492.3(NF1):c.*124C>T
|
rs535911128
|
0.00001
|
NM_001042492.3(NF1):c.*887C>G
|
rs2070712503
|
0.00001
|
NM_001042492.3(NF1):c.1004A>G (p.Asn335Ser)
|
rs758212945
|
0.00001
|
NM_001042492.3(NF1):c.1019C>G (p.Ser340Cys)
|
rs771089333
|
0.00001
|
NM_001042492.3(NF1):c.1048G>A (p.Val350Met)
|
rs1185636269
|
0.00001
|
NM_001042492.3(NF1):c.1062+6A>G
|
rs1060500291
|
0.00001
|
NM_001042492.3(NF1):c.1082G>C (p.Ser361Thr)
|
rs876660103
|
0.00001
|
NM_001042492.3(NF1):c.1100G>A (p.Gly367Asp)
|
rs1361040414
|
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.1156A>G (p.Ile386Val)
|
rs779930387
|
0.00001
|
NM_001042492.3(NF1):c.1219C>T (p.His407Tyr)
|
rs1156614886
|
0.00001
|
NM_001042492.3(NF1):c.1241T>G (p.Leu414Arg)
|
rs1334926587
|
0.00001
|
NM_001042492.3(NF1):c.1243C>T (p.His415Tyr)
|
rs1415155749
|
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.1337C>T (p.Thr446Ile)
|
rs1389152072
|
0.00001
|
NM_001042492.3(NF1):c.1357G>A (p.Gly453Ser)
|
rs1273060925
|
0.00001
|
NM_001042492.3(NF1):c.1369C>T (p.His457Tyr)
|
rs757560526
|
0.00001
|
NM_001042492.3(NF1):c.1392+7T>C
|
rs773017698
|
0.00001
|
NM_001042492.3(NF1):c.1392G>A (p.Pro464=)
|
rs201604273
|
0.00001
|
NM_001042492.3(NF1):c.1410A>C (p.Glu470Asp)
|
rs786203090
|
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.1472A>G (p.Tyr491Cys)
|
rs199474757
|
0.00001
|
NM_001042492.3(NF1):c.1541A>C (p.Gln514Pro)
|
rs775369084
|
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.1573T>A (p.Leu525Ile)
|
rs2066875204
|
0.00001
|
NM_001042492.3(NF1):c.1624G>T (p.Ala542Ser)
|
rs1242297747
|
0.00001
|
NM_001042492.3(NF1):c.1641+3A>G
|
rs754159326
|
0.00001
|
NM_001042492.3(NF1):c.1642-12T>A
|
rs2066926774
|
0.00001
|
NM_001042492.3(NF1):c.1662G>T (p.Gln554His)
|
rs147594815
|
0.00001
|
NM_001042492.3(NF1):c.1721+3dup
|
rs1329765790
|
0.00001
|
NM_001042492.3(NF1):c.1722-5T>C
|
rs1458980212
|
0.00001
|
NM_001042492.3(NF1):c.1736T>G (p.Phe579Cys)
|
rs1398363349
|
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.1801C>T (p.Arg601Trp)
|
rs587782592
|
0.00001
|
NM_001042492.3(NF1):c.1849G>A (p.Ala617Thr)
|
rs1131691135
|
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.1900A>G (p.Ile634Val)
|
rs745906742
|
0.00001
|
NM_001042492.3(NF1):c.1904C>T (p.Pro635Leu)
|
rs1597710514
|
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.1972C>T (p.Leu658Phe)
|
rs763901597
|
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.1991A>G (p.Asn664Ser)
|
rs756145065
|
0.00001
|
NM_001042492.3(NF1):c.1999A>G (p.Met667Val)
|
rs749833271
|
0.00001
|
NM_001042492.3(NF1):c.2002-14C>T
|
rs928979051
|
0.00001
|
NM_001042492.3(NF1):c.200A>G (p.Asn67Ser)
|
rs375038808
|
0.00001
|
NM_001042492.3(NF1):c.2045A>C (p.Gln682Pro)
|
rs1304889984
|
0.00001
|
NM_001042492.3(NF1):c.205-13T>A
|
rs886052797
|
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.2132G>A (p.Arg711His)
|
rs1479669686
|
0.00001
|
NM_001042492.3(NF1):c.2156T>C (p.Ile719Thr)
|
rs754025938
|
0.00001
|
NM_001042492.3(NF1):c.2159G>A (p.Arg720Gln)
|
rs1350468182
|
0.00001
|
NM_001042492.3(NF1):c.2189A>C (p.Asn730Thr)
|
rs778033578
|
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.2293C>T (p.Arg765Cys)
|
rs1383770460
|
0.00001
|
NM_001042492.3(NF1):c.2296A>G (p.Ile766Val)
|
rs1303924124
|
0.00001
|
NM_001042492.3(NF1):c.2326-12C>T
|
rs1028639542
|
0.00001
|
NM_001042492.3(NF1):c.2326-9T>A
|
rs181838967
|
0.00001
|
NM_001042492.3(NF1):c.2342A>T (p.His781Leu)
|
rs199474763
|
0.00001
|
NM_001042492.3(NF1):c.2345C>G (p.Ala782Gly)
|
rs1203924788
|
0.00001
|
NM_001042492.3(NF1):c.2378A>C (p.Asn793Thr)
|
rs772543826
|
0.00001
|
NM_001042492.3(NF1):c.2381A>C (p.Tyr794Ser)
|
rs773624220
|
0.00001
|
NM_001042492.3(NF1):c.2409+2T>C
|
rs876660826
|
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.2447G>A (p.Arg816Gln)
|
rs762709897
|
0.00001
|
NM_001042492.3(NF1):c.2451G>A (p.Met817Ile)
|
rs1300226301
|
0.00001
|
NM_001042492.3(NF1):c.2476A>C (p.Ile826Leu)
|
rs767069721
|
0.00001
|
NM_001042492.3(NF1):c.2517C>T (p.Asn839=)
|
rs876659543
|
0.00001
|
NM_001042492.3(NF1):c.2564G>C (p.Arg855Thr)
|
rs786203716
|
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.2576G>C (p.Gly859Ala)
|
rs876659829
|
0.00001
|
NM_001042492.3(NF1):c.2577C>T (p.Gly859=)
|
rs746208651
|
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.2622G>A (p.Lys874=)
|
rs77917884
|
0.00001
|
NM_001042492.3(NF1):c.2624G>T (p.Gly875Val)
|
rs1060500361
|
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.2690G>A (p.Arg897Gln)
|
rs863224658
|
0.00001
|
NM_001042492.3(NF1):c.2740C>T (p.Arg914Trp)
|
rs765848298
|
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.2765G>A (p.Gly922Asp)
|
rs1378141985
|
0.00001
|
NM_001042492.3(NF1):c.2794A>G (p.Met932Val)
|
rs886052800
|
0.00001
|
NM_001042492.3(NF1):c.2795T>C (p.Met932Thr)
|
rs876659779
|
0.00001
|
NM_001042492.3(NF1):c.2803A>C (p.Asn935His)
|
rs786201823
|
0.00001
|
NM_001042492.3(NF1):c.2809T>G (p.Leu937Val)
|
rs1567849181
|
0.00001
|
NM_001042492.3(NF1):c.2825G>A (p.Ser942Asn)
|
rs1555614350
|
0.00001
|
NM_001042492.3(NF1):c.2850+5A>T
|
rs864622633
|
0.00001
|
NM_001042492.3(NF1):c.2866A>G (p.Thr956Ala)
|
rs2067082802
|
0.00001
|
NM_001042492.3(NF1):c.288G>T (p.Gly96=)
|
rs1430988476
|
0.00001
|
NM_001042492.3(NF1):c.289-3T>C
|
rs1461646186
|
0.00001
|
NM_001042492.3(NF1):c.289-4T>G
|
rs1258767746
|
0.00001
|
NM_001042492.3(NF1):c.2902A>G (p.Met968Val)
|
rs587781499
|
0.00001
|
NM_001042492.3(NF1):c.2927C>T (p.Thr976Ile)
|
rs755404523
|
0.00001
|
NM_001042492.3(NF1):c.2963T>C (p.Ile988Thr)
|
rs746670929
|
0.00001
|
NM_001042492.3(NF1):c.2968A>C (p.Thr990Pro)
|
rs876658299
|
0.00001
|
NM_001042492.3(NF1):c.2971A>G (p.Met991Val)
|
rs1268543864
|
0.00001
|
NM_001042492.3(NF1):c.2995G>A (p.Val999Ile)
|
rs2067090218
|
0.00001
|
NM_001042492.3(NF1):c.2998C>T (p.Arg1000Cys)
|
rs367684252
|
0.00001
|
NM_001042492.3(NF1):c.3009G>T (p.Gly1003=)
|
rs780895334
|
0.00001
|
NM_001042492.3(NF1):c.3011A>G (p.Asn1004Ser)
|
rs1475800240
|
0.00001
|
NM_001042492.3(NF1):c.3013A>G (p.Met1005Val)
|
rs1555614502
|
0.00001
|
NM_001042492.3(NF1):c.3030A>C (p.Gln1010His)
|
rs1405071456
|
0.00001
|
NM_001042492.3(NF1):c.3038C>T (p.Thr1013Met)
|
rs786203132
|
0.00001
|
NM_001042492.3(NF1):c.304A>G (p.Met102Val)
|
rs756370324
|
0.00001
|
NM_001042492.3(NF1):c.3062T>G (p.Val1021Gly)
|
rs1355411201
|
0.00001
|
NM_001042492.3(NF1):c.3079G>A (p.Asp1027Asn)
|
rs774066804
|
0.00001
|
NM_001042492.3(NF1):c.3103A>G (p.Met1035Val)
|
rs771694969
|
0.00001
|
NM_001042492.3(NF1):c.3124G>A (p.Val1042Ile)
|
rs1446427729
|
0.00001
|
NM_001042492.3(NF1):c.3166G>A (p.Ala1056Thr)
|
rs776907522
|
0.00001
|
NM_001042492.3(NF1):c.3197+3A>G
|
rs1359512152
|
0.00001
|
NM_001042492.3(NF1):c.3242C>G (p.Ala1081Gly)
|
rs769941435
|
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.3352A>G (p.Ser1118Gly)
|
rs201645318
|
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.3490T>G (p.Ser1164Ala)
|
rs750303863
|
0.00001
|
NM_001042492.3(NF1):c.3527G>T (p.Arg1176Ile)
|
rs1227027709
|
0.00001
|
NM_001042492.3(NF1):c.3544G>A (p.Val1182Ile)
|
rs1555615027
|
0.00001
|
NM_001042492.3(NF1):c.354C>T (p.Cys118=)
|
rs768777585
|
0.00001
|
NM_001042492.3(NF1):c.3586C>T (p.Leu1196Phe)
|
rs1555615039
|
0.00001
|
NM_001042492.3(NF1):c.3590C>G (p.Ala1197Gly)
|
rs370820478
|
0.00001
|
NM_001042492.3(NF1):c.3619A>C (p.Arg1207=)
|
rs202208560
|
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.3730G>A (p.Val1244Ile)
|
rs2067186026
|
0.00001
|
NM_001042492.3(NF1):c.3732T>A (p.Val1244=)
|
rs756653022
|
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.3778A>G (p.Met1260Val)
|
rs1264981144
|
0.00001
|
NM_001042492.3(NF1):c.3811A>G (p.Met1271Val)
|
rs746583007
|
0.00001
|
NM_001042492.3(NF1):c.3845G>A (p.Ser1282Asn)
|
rs1328592308
|
0.00001
|
NM_001042492.3(NF1):c.386A>G (p.Gln129Arg)
|
rs1060500250
|
0.00001
|
NM_001042492.3(NF1):c.3871-4G>C
|
rs558421445
|
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.3916C>A (p.Arg1306=)
|
rs376576925
|
0.00001
|
NM_001042492.3(NF1):c.3940T>C (p.Trp1314Arg)
|
rs576687606
|
0.00001
|
NM_001042492.3(NF1):c.3948T>A (p.His1316Gln)
|
rs1418340346
|
0.00001
|
NM_001042492.3(NF1):c.3962T>C (p.Val1321Ala)
|
rs1060500337
|
0.00001
|
NM_001042492.3(NF1):c.3975-4G>A
|
rs760207624
|
0.00001
|
NM_001042492.3(NF1):c.3976T>A (p.Leu1326Ile)
|
rs765957571
|
0.00001
|
NM_001042492.3(NF1):c.3988G>C (p.Glu1330Gln)
|
rs1483311407
|
0.00001
|
NM_001042492.3(NF1):c.3989A>C (p.Glu1330Ala)
|
rs1256727206
|
0.00001
|
NM_001042492.3(NF1):c.4010G>T (p.Arg1337Leu)
|
rs1060500379
|
0.00001
|
NM_001042492.3(NF1):c.4024A>G (p.Met1342Val)
|
rs1597735093
|
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.4097A>T (p.His1366Leu)
|
rs769042915
|
0.00001
|
NM_001042492.3(NF1):c.4098C>G (p.His1366Gln)
|
rs1555617377
|
0.00001
|
NM_001042492.3(NF1):c.410C>G (p.Ser137Cys)
|
rs1597635932
|
0.00001
|
NM_001042492.3(NF1):c.4110+3A>G
|
rs774669878
|
0.00001
|
NM_001042492.3(NF1):c.4118G>A (p.Cys1373Tyr)
|
rs786202990
|
0.00001
|
NM_001042492.3(NF1):c.4120C>T (p.His1374Tyr)
|
rs764123241
|
0.00001
|
NM_001042492.3(NF1):c.4153A>G (p.Lys1385Glu)
|
rs1259436033
|
0.00001
|
NM_001042492.3(NF1):c.4187G>A (p.Arg1396His)
|
rs368685980
|
0.00001
|
NM_001042492.3(NF1):c.4190T>A (p.Phe1397Tyr)
|
rs768223279
|
0.00001
|
NM_001042492.3(NF1):c.4201A>T (p.Ser1401Cys)
|
rs1060500310
|
0.00001
|
NM_001042492.3(NF1):c.4213G>A (p.Val1405Ile)
|
rs1256219174
|
0.00001
|
NM_001042492.3(NF1):c.4220G>A (p.Ser1407Asn)
|
rs2067621332
|
0.00001
|
NM_001042492.3(NF1):c.4225A>G (p.Met1409Val)
|
rs1060500369
|
0.00001
|
NM_001042492.3(NF1):c.4244A>G (p.Asn1415Ser)
|
rs1406169018
|
0.00001
|
NM_001042492.3(NF1):c.4252A>G (p.Ile1418Val)
|
rs369345045
|
0.00001
|
NM_001042492.3(NF1):c.4262C>A (p.Pro1421Gln)
|
rs753997885
|
0.00001
|
NM_001042492.3(NF1):c.4306G>A (p.Glu1436Lys)
|
rs876660428
|
0.00001
|
NM_001042492.3(NF1):c.4333-4G>A
|
rs372709098
|
0.00001
|
NM_001042492.3(NF1):c.4346T>C (p.Ile1449Thr)
|
rs1410459904
|
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.4378C>G (p.His1460Asp)
|
rs377295676
|
0.00001
|
NM_001042492.3(NF1):c.4382T>C (p.Met1461Thr)
|
rs754639587
|
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.4417G>A (p.Asp1473Asn)
|
rs587781790
|
0.00001
|
NM_001042492.3(NF1):c.4421C>T (p.Ala1474Val)
|
rs587781553
|
0.00001
|
NM_001042492.3(NF1):c.4446A>G (p.Ile1482Met)
|
rs876658776
|
0.00001
|
NM_001042492.3(NF1):c.4460C>T (p.Pro1487Leu)
|
rs2067663223
|
0.00001
|
NM_001042492.3(NF1):c.4489T>C (p.Ser1497Pro)
|
rs763266925
|
0.00001
|
NM_001042492.3(NF1):c.4495A>G (p.Ile1499Val)
|
rs764654925
|
0.00001
|
NM_001042492.3(NF1):c.4504G>A (p.Gly1502Ser)
|
rs876659607
|
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.4523A>T (p.His1508Leu)
|
rs1254695587
|
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.4578G>A (p.Arg1526=)
|
rs1356757316
|
0.00001
|
NM_001042492.3(NF1):c.4594G>A (p.Gly1532Arg)
|
rs2067689658
|
0.00001
|
NM_001042492.3(NF1):c.4601G>A (p.Arg1534Gln)
|
rs867955218
|
0.00001
|
NM_001042492.3(NF1):c.4655A>G (p.Lys1552Arg)
|
rs1172780277
|
0.00001
|
NM_001042492.3(NF1):c.467G>A (p.Arg156His)
|
rs754096545
|
0.00001
|
NM_001042492.3(NF1):c.4682G>A (p.Ser1561Asn)
|
rs751414513
|
0.00001
|
NM_001042492.3(NF1):c.4690C>T (p.Leu1564Phe)
|
rs1427435078
|
0.00001
|
NM_001042492.3(NF1):c.4724+3A>G
|
rs781147524
|
0.00001
|
NM_001042492.3(NF1):c.4736A>G (p.His1579Arg)
|
rs1275751975
|
0.00001
|
NM_001042492.3(NF1):c.475A>G (p.Thr159Ala)
|
rs371192107
|
0.00001
|
NM_001042492.3(NF1):c.4766C>T (p.Thr1589Met)
|
rs185660700
|
0.00001
|
NM_001042492.3(NF1):c.479+4A>G
|
rs1567818032
|
0.00001
|
NM_001042492.3(NF1):c.4793C>A (p.Thr1598Asn)
|
rs753453385
|
0.00001
|
NM_001042492.3(NF1):c.4813A>G (p.Ile1605Val)
|
rs199474766
|
0.00001
|
NM_001042492.3(NF1):c.4835+3A>G
|
rs1417732851
|
0.00001
|
NM_001042492.3(NF1):c.4836G>A (p.Arg1612=)
|
rs1555533268
|
0.00001
|
NM_001042492.3(NF1):c.4859G>A (p.Gly1620Asp)
|
rs587782213
|
0.00001
|
NM_001042492.3(NF1):c.4870A>G (p.Ile1624Val)
|
rs1555533280
|
0.00001
|
NM_001042492.3(NF1):c.4901A>G (p.Tyr1634Cys)
|
rs1597829621
|
0.00001
|
NM_001042492.3(NF1):c.4920A>C (p.Glu1640Asp)
|
rs1443684477
|
0.00001
|
NM_001042492.3(NF1):c.4939C>T (p.His1647Tyr)
|
rs2069328243
|
0.00001
|
NM_001042492.3(NF1):c.4945G>A (p.Gly1649Arg)
|
rs770124316
|
0.00001
|
NM_001042492.3(NF1):c.4948C>T (p.Pro1650Ser)
|
rs1402198290
|
0.00001
|
NM_001042492.3(NF1):c.4957C>T (p.Arg1653Cys)
|
rs876659922
|
0.00001
|
NM_001042492.3(NF1):c.5026G>A (p.Ala1676Thr)
|
rs756450772
|
0.00001
|
NM_001042492.3(NF1):c.5079T>G (p.His1693Gln)
|
rs1555533365
|
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.5116C>T (p.Leu1706Phe)
|
rs769087878
|
0.00001
|
NM_001042492.3(NF1):c.5125A>G (p.Ile1709Val)
|
rs774720054
|
0.00001
|
NM_001042492.3(NF1):c.5126T>C (p.Ile1709Thr)
|
rs876660316
|
0.00001
|
NM_001042492.3(NF1):c.5146G>C (p.Ala1716Pro)
|
rs767469374
|
0.00001
|
NM_001042492.3(NF1):c.5160G>T (p.Glu1720Asp)
|
rs773378630
|
0.00001
|
NM_001042492.3(NF1):c.5161C>T (p.His1721Tyr)
|
rs760936909
|
0.00001
|
NM_001042492.3(NF1):c.5167C>G (p.Gln1723Glu)
|
rs766727694
|
0.00001
|
NM_001042492.3(NF1):c.5183C>T (p.Ala1728Val)
|
rs1555533395
|
0.00001
|
NM_001042492.3(NF1):c.5270T>C (p.Val1757Ala)
|
rs1021835871
|
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.5344A>G (p.Ile1782Val)
|
rs1160436761
|
0.00001
|
NM_001042492.3(NF1):c.5351A>T (p.Tyr1784Phe)
|
rs1060500280
|
0.00001
|
NM_001042492.3(NF1):c.5357C>T (p.Ser1786Leu)
|
rs1555533569
|
0.00001
|
NM_001042492.3(NF1):c.5358G>A (p.Ser1786=)
|
rs373313111
|
0.00001
|
NM_001042492.3(NF1):c.5407A>G (p.Ile1803Val)
|
rs559910904
|
0.00001
|
NM_001042492.3(NF1):c.541C>G (p.Gln181Glu)
|
rs753529924
|
0.00001
|
NM_001042492.3(NF1):c.5436C>T (p.Phe1812=)
|
rs864622640
|
0.00001
|
NM_001042492.3(NF1):c.5458A>C (p.Ile1820Leu)
|
rs786202459
|
0.00001
|
NM_001042492.3(NF1):c.5468C>G (p.Ser1823Cys)
|
rs1597832156
|
0.00001
|
NM_001042492.3(NF1):c.5509G>A (p.Asp1837Asn)
|
rs771597781
|
0.00001
|
NM_001042492.3(NF1):c.550A>C (p.Asn184His)
|
rs1555607101
|
0.00001
|
NM_001042492.3(NF1):c.551A>G (p.Asn184Ser)
|
rs876659849
|
0.00001
|
NM_001042492.3(NF1):c.5536C>T (p.Arg1846Trp)
|
rs769843989
|
0.00001
|
NM_001042492.3(NF1):c.5578C>G (p.Leu1860Val)
|
rs746689492
|
0.00001
|
NM_001042492.3(NF1):c.5610-12G>A
|
rs749499960
|
0.00001
|
NM_001042492.3(NF1):c.5610-4C>G
|
rs1419030713
|
0.00001
|
NM_001042492.3(NF1):c.5610-7C>T
|
rs553657123
|
0.00001
|
NM_001042492.3(NF1):c.5665G>A (p.Glu1889Lys)
|
rs764782945
|
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.5768C>T (p.Thr1923Met)
|
rs786203824
|
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.5873G>T (p.Arg1958Leu)
|
rs1296862549
|
0.00001
|
NM_001042492.3(NF1):c.5941A>G (p.Met1981Val)
|
rs762935987
|
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.6006+4T>C
|
rs754909198
|
0.00001
|
NM_001042492.3(NF1):c.607G>T (p.Ala203Ser)
|
rs904361724
|
0.00001
|
NM_001042492.3(NF1):c.6148G>T (p.Val2050Phe)
|
rs1300330804
|
0.00001
|
NM_001042492.3(NF1):c.619G>A (p.Val207Ile)
|
rs752959118
|
0.00001
|
NM_001042492.3(NF1):c.6262C>G (p.Leu2088Val)
|
rs752569823
|
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.6377T>C (p.Val2126Ala)
|
rs1597843145
|
0.00001
|
NM_001042492.3(NF1):c.6442G>A (p.Val2148Ile)
|
rs770993581
|
0.00001
|
NM_001042492.3(NF1):c.6449G>C (p.Arg2150Thr)
|
rs2069704009
|
0.00001
|
NM_001042492.3(NF1):c.6468C>G (p.Phe2156Leu)
|
rs768464936
|
0.00001
|
NM_001042492.3(NF1):c.6470C>T (p.Ser2157Leu)
|
rs774161532
|
0.00001
|
NM_001042492.3(NF1):c.6480A>G (p.Lys2160=)
|
rs1060503918
|
0.00001
|
NM_001042492.3(NF1):c.6488T>G (p.Leu2163Trp)
|
rs1353492847
|
0.00001
|
NM_001042492.3(NF1):c.6643-8T>A
|
rs752079977
|
0.00001
|
NM_001042492.3(NF1):c.6646T>A (p.Cys2216Ser)
|
rs757736155
|
0.00001
|
NM_001042492.3(NF1):c.6665C>T (p.Thr2222Met)
|
rs369803831
|
0.00001
|
NM_001042492.3(NF1):c.6667T>C (p.Cys2223Arg)
|
rs1192120725
|
0.00001
|
NM_001042492.3(NF1):c.6671A>G (p.Lys2224Arg)
|
rs749567006
|
0.00001
|
NM_001042492.3(NF1):c.6672G>A (p.Lys2224=)
|
rs771835288
|
0.00001
|
NM_001042492.3(NF1):c.6704+3A>G
|
rs375560135
|
0.00001
|
NM_001042492.3(NF1):c.6748G>A (p.Val2250Ile)
|
rs1208488322
|
0.00001
|
NM_001042492.3(NF1):c.6761G>A (p.Cys2254Tyr)
|
rs1361250850
|
0.00001
|
NM_001042492.3(NF1):c.6773G>A (p.Arg2258Gln)
|
rs786202030
|
0.00001
|
NM_001042492.3(NF1):c.6779C>T (p.Ser2260Phe)
|
rs876658775
|
0.00001
|
NM_001042492.3(NF1):c.6785G>A (p.Gly2262Glu)
|
rs997781719
|
0.00001
|
NM_001042492.3(NF1):c.6790A>T (p.Ile2264Leu)
|
rs761213794
|
0.00001
|
NM_001042492.3(NF1):c.6806G>A (p.Arg2269His)
|
rs562367786
|
0.00001
|
NM_001042492.3(NF1):c.680A>T (p.Tyr227Phe)
|
rs1555608742
|
0.00001
|
NM_001042492.3(NF1):c.6819+4C>T
|
rs755135948
|
0.00001
|
NM_001042492.3(NF1):c.6819+6T>C
|
rs1407700643
|
0.00001
|
NM_001042492.3(NF1):c.681T>C (p.Tyr227=)
|
rs745804540
|
0.00001
|
NM_001042492.3(NF1):c.6837A>C (p.Leu2279Phe)
|
rs144287929
|
0.00001
|
NM_001042492.3(NF1):c.6839A>G (p.Lys2280Arg)
|
rs773858629
|
0.00001
|
NM_001042492.3(NF1):c.6921+5T>C
|
rs370402788
|
0.00001
|
NM_001042492.3(NF1):c.6921+6T>C
|
rs368541645
|
0.00001
|
NM_001042492.3(NF1):c.6922-13T>C
|
rs199901687
|
0.00001
|
NM_001042492.3(NF1):c.6922-6T>G
|
rs892776409
|
0.00001
|
NM_001042492.3(NF1):c.6936C>G (p.His2312Gln)
|
rs1567618937
|
0.00001
|
NM_001042492.3(NF1):c.6958G>A (p.Val2320Met)
|
rs766323701
|
0.00001
|
NM_001042492.3(NF1):c.7009C>T (p.Leu2337Phe)
|
rs367734104
|
0.00001
|
NM_001042492.3(NF1):c.7039A>G (p.Ser2347Gly)
|
rs1060500318
|
0.00001
|
NM_001042492.3(NF1):c.703T>C (p.Tyr235His)
|
rs864622465
|
0.00001
|
NM_001042492.3(NF1):c.7045C>T (p.Arg2349Cys)
|
rs56013763
|
0.00001
|
NM_001042492.3(NF1):c.7080T>A (p.Phe2360Leu)
|
rs2069866250
|
0.00001
|
NM_001042492.3(NF1):c.7087A>G (p.Ile2363Val)
|
rs137966859
|
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.7142A>G (p.Asn2381Ser)
|
rs878853912
|
0.00001
|
NM_001042492.3(NF1):c.7148A>G (p.Asn2383Ser)
|
rs146296921
|
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.7241A>G (p.His2414Arg)
|
rs876659855
|
0.00001
|
NM_001042492.3(NF1):c.7253C>T (p.Thr2418Ile)
|
rs764022114
|
0.00001
|
NM_001042492.3(NF1):c.7280A>G (p.Asp2427Gly)
|
rs1359563939
|
0.00001
|
NM_001042492.3(NF1):c.7298C>T (p.Thr2433Ile)
|
rs755749772
|
0.00001
|
NM_001042492.3(NF1):c.730+16dup
|
rs373999174
|
0.00001
|
NM_001042492.3(NF1):c.7306G>A (p.Val2436Met)
|
rs876659856
|
0.00001
|
NM_001042492.3(NF1):c.731-5T>C
|
rs1597659721
|
0.00001
|
NM_001042492.3(NF1):c.7323T>G (p.Ala2441=)
|
rs765750009
|
0.00001
|
NM_001042492.3(NF1):c.7326A>G (p.Leu2442=)
|
rs753224880
|
0.00001
|
NM_001042492.3(NF1):c.732A>C (p.Glu244Asp)
|
rs1567826603
|
0.00001
|
NM_001042492.3(NF1):c.7341A>C (p.Glu2447Asp)
|
rs878853915
|
0.00001
|
NM_001042492.3(NF1):c.7349G>A (p.Arg2450Gln)
|
rs533110479
|
0.00001
|
NM_001042492.3(NF1):c.7359C>T (p.Cys2453=)
|
rs1555536126
|
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.7396A>G (p.Ile2466Val)
|
rs748027595
|
0.00001
|
NM_001042492.3(NF1):c.7397T>C (p.Ile2466Thr)
|
rs771915484
|
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.7454A>G (p.Tyr2485Cys)
|
rs1022605462
|
0.00001
|
NM_001042492.3(NF1):c.7456A>G (p.Arg2486Gly)
|
rs752162999
|
0.00001
|
NM_001042492.3(NF1):c.7487C>G (p.Ser2496Cys)
|
rs371773406
|
0.00001
|
NM_001042492.3(NF1):c.7493A>G (p.Lys2498Arg)
|
rs1269264795
|
0.00001
|
NM_001042492.3(NF1):c.7496G>C (p.Gly2499Ala)
|
rs375176282
|
0.00001
|
NM_001042492.3(NF1):c.7496G>T (p.Gly2499Val)
|
rs375176282
|
0.00001
|
NM_001042492.3(NF1):c.7510C>G (p.Leu2504Val)
|
rs876658333
|
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.7534G>A (p.Gly2512Ser)
|
rs766496842
|
0.00001
|
NM_001042492.3(NF1):c.7552G>A (p.Ala2518Thr)
|
rs1567625163
|
0.00001
|
NM_001042492.3(NF1):c.7585C>T (p.Pro2529Ser)
|
rs1555536370
|
0.00001
|
NM_001042492.3(NF1):c.7600A>G (p.Thr2534Ala)
|
rs779737221
|
0.00001
|
NM_001042492.3(NF1):c.7616-10T>C
|
rs2070272477
|
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.7668G>C (p.Arg2556Ser)
|
rs876659035
|
0.00001
|
NM_001042492.3(NF1):c.7675A>G (p.Met2559Val)
|
rs779373258
|
0.00001
|
NM_001042492.3(NF1):c.7700C>T (p.Pro2567Leu)
|
rs754511534
|
0.00001
|
NM_001042492.3(NF1):c.7729T>C (p.Tyr2577His)
|
rs778143477
|
0.00001
|
NM_001042492.3(NF1):c.7742C>G (p.Thr2581Ser)
|
rs757632129
|
0.00001
|
NM_001042492.3(NF1):c.7757C>T (p.Ser2586Leu)
|
rs769876049
|
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.7793T>C (p.Val2598Ala)
|
rs760531845
|
0.00001
|
NM_001042492.3(NF1):c.7810C>G (p.Leu2604Val)
|
rs776602307
|
0.00001
|
NM_001042492.3(NF1):c.781A>G (p.Lys261Glu)
|
rs2066156804
|
0.00001
|
NM_001042492.3(NF1):c.7822G>C (p.Glu2608Gln)
|
rs1597866487
|
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.7841A>G (p.Lys2614Arg)
|
rs587781502
|
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.78A>T (p.Gly26=)
|
rs748018099
|
0.00001
|
NM_001042492.3(NF1):c.7901T>C (p.Phe2634Ser)
|
rs756567782
|
0.00001
|
NM_001042492.3(NF1):c.7931C>G (p.Ala2644Gly)
|
rs766494934
|
0.00001
|
NM_001042492.3(NF1):c.7943T>G (p.Val2648Gly)
|
rs1487025591
|
0.00001
|
NM_001042492.3(NF1):c.7951C>T (p.Pro2651Ser)
|
rs367858662
|
0.00001
|
NM_001042492.3(NF1):c.8012T>C (p.Leu2671Ser)
|
rs1207124870
|
0.00001
|
NM_001042492.3(NF1):c.8080T>C (p.Ser2694Pro)
|
rs876658554
|
0.00001
|
NM_001042492.3(NF1):c.8092T>C (p.Tyr2698His)
|
rs1405312220
|
0.00001
|
NM_001042492.3(NF1):c.8150C>T (p.Pro2717Leu)
|
rs778799019
|
0.00001
|
NM_001042492.3(NF1):c.8182G>A (p.Ala2728Thr)
|
rs750603086
|
0.00001
|
NM_001042492.3(NF1):c.8192T>C (p.Ile2731Thr)
|
rs1567628605
|
0.00001
|
NM_001042492.3(NF1):c.8237T>C (p.Ile2746Thr)
|
rs756800001
|
0.00001
|
NM_001042492.3(NF1):c.8238T>G (p.Ile2746Met)
|
rs779789452
|
0.00001
|
NM_001042492.3(NF1):c.824T>C (p.Ile275Thr)
|
rs1406698961
|
0.00001
|
NM_001042492.3(NF1):c.8296C>G (p.Leu2766Val)
|
rs749647961
|
0.00001
|
NM_001042492.3(NF1):c.8298G>A (p.Leu2766=)
|
rs768947696
|
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.8378-4C>T
|
rs587782700
|
0.00001
|
NM_001042492.3(NF1):c.8378G>C (p.Gly2793Ala)
|
rs1275285522
|
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.8423G>C (p.Cys2808Ser)
|
rs148473245
|
0.00001
|
NM_001042492.3(NF1):c.8446G>A (p.Gly2816Arg)
|
rs778233452
|
0.00001
|
NM_001042492.3(NF1):c.844C>A (p.Gln282Lys)
|
rs753054046
|
0.00001
|
NM_001042492.3(NF1):c.845A>G (p.Gln282Arg)
|
rs779034900
|
0.00001
|
NM_001042492.3(NF1):c.848A>T (p.Asp283Val)
|
rs878853921
|
0.00001
|
NM_001042492.3(NF1):c.8495G>A (p.Arg2832His)
|
rs587781523
|
0.00001
|
NM_001042492.3(NF1):c.8497A>G (p.Asn2833Asp)
|
rs786202863
|
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.890A>G (p.Lys297Arg)
|
rs1219929525
|
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.970T>G (p.Cys324Gly)
|
rs199474735
|
0.00001
|
GRCh37/hg19 17q11.2(chr17:29686894-29711411)x3
|
|
|
NC_000017.10:g.(29687722_29701030)_(29704696_?)dup
|
|
|
NC_000017.10:g.(?_29422048)_(29497025_?)dup
|
|
|
NC_000017.10:g.(?_29422048)_(29510472_?)dup
|
|
|
NC_000017.10:g.(?_29422048)_(29592367_?)dup
|
|
|
NC_000017.10:g.(?_29422055)_(29533409_?)dup
|
|
|
NC_000017.10:g.(?_29422055)_(29552288_?)dup
|
|
|
NC_000017.10:g.(?_29422322)_(29497021_?)dup
|
|
|
NC_000017.10:g.(?_29422322)_(29592363_?)dup
|
|
|
NC_000017.10:g.(?_29482991)_(29534143_?)dup
|
|
|
NC_000017.10:g.(?_29540877)_(29542762_?)dup
|
|
|
NC_000017.10:g.(?_29546017)_(29585526_?)dup
|
|
|
NC_000017.10:g.(?_29575992)_(29576147_?)dup
|
|
|
NC_000017.10:g.(?_29575992)_(29592367_?)dup
|
|
|
NC_000017.10:g.(?_29652818)_(29664918_?)dup
|
|
|
NC_000017.10:g.(?_29663341)_(29665833_?)dup
|
|
|
NC_000017.10:g.(?_29676126)_(29701173_?)dup
|
|
|
NC_000017.10:g.(?_29679265)_(29701183_?)dup
|
|
|
NC_000017.10:g.(?_29687495)_(29701173_?)dup
|
|
|
NC_000017.10:g.(?_29701011)_(29701193_?)dup
|
|
|
NC_000017.10:g.(?_29701021)_(29701183_?)dup
|
|
|
NC_000017.10:g.(?_29701025)_(29701178_?)dup
|
|
|
NC_000017.10:g.(?_29701031)_(29704695_?)dup
|
|
|
NC_000017.11:g.(31082496_31133240)dup
|
|
|
NC_000017.11:g.(?_31095030)_(31104404_?)dup
|
|
|
NC_000017.11:g.(?_31095300)_(31265349_?)dup
|
|
|
NC_000017.11:g.(?_31159000)_(31182675_?)dup
|
|
|
NC_000017.11:g.(?_31169881)_(31236031_?)dup
|
|
|
NC_000017.11:g.(?_31374003)_(31374155_?)del
|
|
|
NC_000017.11:g.(?_31374003)_(31374155_?)dup
|
|
|
NC_000017.11:g.31221839_31221853A[6]TTCAGGCTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAATTCAGGCTC[1]
|
|
|
NC_000017.11:g.31233003_31233008dup
|
|
|
NM_000267.3(NF1):c.7395-?_*3522+?dup
|
|
|
NM_000267.3:c.8455_8456insALU
|
|
|
NM_001042492.3(NF1):c.*11CTTT[1]
|
|
|
NM_001042492.3(NF1):c.*1425C>T
|
rs886052808
|
|
NM_001042492.3(NF1):c.*1446T>C
|
rs886052809
|
|
NM_001042492.3(NF1):c.*1479A>C
|
rs866235175
|
|
NM_001042492.3(NF1):c.*1987C>T
|
rs886052810
|
|
NM_001042492.3(NF1):c.*1delinsTCG
|
|
|
NM_001042492.3(NF1):c.*2010A>G
|
rs2070728204
|
|
NM_001042492.3(NF1):c.*2132T>C
|
rs551806545
|
|
NM_001042492.3(NF1):c.*2638_*2646delinsTTATG
|
rs886052813
|
|
NM_001042492.3(NF1):c.*2777C>A
|
rs185015732
|
|
NM_001042492.3(NF1):c.*2884T>A
|
rs886052814
|
|
NM_001042492.3(NF1):c.*3174A>C
|
rs886052815
|
|
NM_001042492.3(NF1):c.*3514G>C
|
rs574282086
|
|
NM_001042492.3(NF1):c.*3514G>T
|
rs574282086
|
|
NM_001042492.3(NF1):c.*385C>T
|
rs1597883440
|
|
NM_001042492.3(NF1):c.*584G>C
|
rs190144445
|
|
NM_001042492.3(NF1):c.*584G>T
|
rs190144445
|
|
NM_001042492.3(NF1):c.*585G>A
|
rs372804411
|
|
NM_001042492.3(NF1):c.*859AT[9]
|
rs369548314
|
|
NM_001042492.3(NF1):c.1000A>C (p.Ile334Leu)
|
|
|
NM_001042492.3(NF1):c.1002C>A (p.Ile334=)
|
|
|
NM_001042492.3(NF1):c.1002C>G (p.Ile334Met)
|
rs2143873647
|
|
NM_001042492.3(NF1):c.1009G>A (p.Glu337Lys)
|
|
|
NM_001042492.3(NF1):c.1017_1061dup (p.Asn339_Leu353dup)
|
rs2143873915
|
|
NM_001042492.3(NF1):c.1018T>G (p.Ser340Ala)
|
rs1567835228
|
|
NM_001042492.3(NF1):c.101T>C (p.Val34Ala)
|
rs1217358160
|
|
NM_001042492.3(NF1):c.101T>G (p.Val34Gly)
|
|
|
NM_001042492.3(NF1):c.1021G>A (p.Val341Ile)
|
rs1555610907
|
|
NM_001042492.3(NF1):c.1021_1038del (p.Val341_Val346del)
|
rs2143874028
|
|
NM_001042492.3(NF1):c.1024A>G (p.Ile342Val)
|
rs2066509214
|
|
NM_001042492.3(NF1):c.1024A>T (p.Ile342Phe)
|
|
|
NM_001042492.3(NF1):c.1025T>G (p.Ile342Ser)
|
|
|
NM_001042492.3(NF1):c.1029C>A (p.Phe343Leu)
|
rs745914493
|
|
NM_001042492.3(NF1):c.1029C>G (p.Phe343Leu)
|
|
|
NM_001042492.3(NF1):c.1032A>T (p.Leu344=)
|
rs199832006
|
|
NM_001042492.3(NF1):c.1033C>G (p.Leu345Val)
|
|
|
NM_001042492.3(NF1):c.1033C>T (p.Leu345Phe)
|
|
|
NM_001042492.3(NF1):c.1036G>A (p.Val346Ile)
|
|
|
NM_001042492.3(NF1):c.1037T>C (p.Val346Ala)
|
rs1597681117
|
|
NM_001042492.3(NF1):c.1039C>G (p.Gln347Glu)
|
rs1555610910
|
|
NM_001042492.3(NF1):c.103A>T (p.Ser35Cys)
|
rs2143625843
|
|
NM_001042492.3(NF1):c.1040A>T (p.Gln347Leu)
|
rs1597681131
|
|
NM_001042492.3(NF1):c.1042T>C (p.Ser348Pro)
|
rs864622064
|
|
NM_001042492.3(NF1):c.1045A>G (p.Met349Val)
|
rs776050648
|
|
NM_001042492.3(NF1):c.104G>A (p.Ser35Asn)
|
rs1060500282
|
|
NM_001042492.3(NF1):c.1050G>A (p.Val350=)
|
|
|
NM_001042492.3(NF1):c.1051G>A (p.Val351Ile)
|
rs1597681173
|
|
NM_001042492.3(NF1):c.1051G>T (p.Val351Phe)
|
rs1597681173
|
|
NM_001042492.3(NF1):c.1052T>A (p.Val351Asp)
|
rs878853861
|
|
NM_001042492.3(NF1):c.1052T>C (p.Val351Ala)
|
rs878853861
|
|
NM_001042492.3(NF1):c.1057C>G (p.Leu353Val)
|
rs2066510027
|
|
NM_001042492.3(NF1):c.1057C>T (p.Leu353Phe)
|
|
|
NM_001042492.3(NF1):c.1057_1062del (p.Leu353_Lys354del)
|
|
|
NM_001042492.3(NF1):c.1058T>C (p.Leu353Pro)
|
rs2066510063
|
|
NM_001042492.3(NF1):c.1058T>G (p.Leu353Arg)
|
|
|
NM_001042492.3(NF1):c.1061A>C (p.Lys354Thr)
|
rs1135402801
|
|
NM_001042492.3(NF1):c.1061A>G (p.Lys354Arg)
|
rs1135402801
|
|
NM_001042492.3(NF1):c.1062+2T>G
|
rs2066510391
|
|
NM_001042492.3(NF1):c.1062+3A>C
|
rs1057521098
|
|
NM_001042492.3(NF1):c.1062+3A>G
|
rs1057521098
|
|
NM_001042492.3(NF1):c.1062+3A>T
|
|
|
NM_001042492.3(NF1):c.1062+4A>G
|
rs1243650794
|
|
NM_001042492.3(NF1):c.1062+5C>T
|
rs1555610916
|
|
NM_001042492.3(NF1):c.1062+6A>C
|
rs1060500291
|
|
NM_001042492.3(NF1):c.1062+6A>T
|
|
|
NM_001042492.3(NF1):c.1062_1062+2dup
|
|
|
NM_001042492.3(NF1):c.1067T>C (p.Leu356Pro)
|
|
|
NM_001042492.3(NF1):c.1069C>A (p.Leu357Ile)
|
rs1567835662
|
|
NM_001042492.3(NF1):c.1069C>G (p.Leu357Val)
|
rs1567835662
|
|
NM_001042492.3(NF1):c.1069C>T (p.Leu357Phe)
|
rs1567835662
|
|
NM_001042492.3(NF1):c.106A>C (p.Thr36Pro)
|
|
|
NM_001042492.3(NF1):c.1070T>G (p.Leu357Arg)
|
rs137854563
|
|
NM_001042492.3(NF1):c.1073T>A (p.Phe358Tyr)
|
rs2066518753
|
|
NM_001042492.3(NF1):c.1073T>C (p.Phe358Ser)
|
rs2066518753
|
|
NM_001042492.3(NF1):c.1076A>G (p.Asn359Ser)
|
|
|
NM_001042492.3(NF1):c.1076A>T (p.Asn359Ile)
|
rs2143878548
|
|
NM_001042492.3(NF1):c.1077T>A (p.Asn359Lys)
|
rs2066518822
|
|
NM_001042492.3(NF1):c.1078C>A (p.Pro360Thr)
|
rs1597681902
|
|
NM_001042492.3(NF1):c.1078C>T (p.Pro360Ser)
|
rs1597681902
|
|
NM_001042492.3(NF1):c.107C>T (p.Thr36Ile)
|
rs199966218
|
|
NM_001042492.3(NF1):c.1080A>C (p.Pro360=)
|
rs777642846
|
|
NM_001042492.3(NF1):c.1081A>G (p.Ser361Gly)
|
|
|
NM_001042492.3(NF1):c.1084A>G (p.Lys362Glu)
|
rs2066519027
|
|
NM_001042492.3(NF1):c.1085A>G (p.Lys362Arg)
|
rs1555610976
|
|
NM_001042492.3(NF1):c.1093T>C (p.Ser365Pro)
|
rs2143878749
|
|
NM_001042492.3(NF1):c.1094C>T (p.Ser365Leu)
|
|
|
NM_001042492.3(NF1):c.1096A>G (p.Arg366Gly)
|
|
|
NM_001042492.3(NF1):c.1099G>A (p.Gly367Ser)
|
|
|
NM_001042492.3(NF1):c.109G>A (p.Glu37Lys)
|
rs2143625963
|
|
NM_001042492.3(NF1):c.1102A>T (p.Ser368Cys)
|
|
|
NM_001042492.3(NF1):c.1103G>A (p.Ser368Asn)
|
rs1597681975
|
|
NM_001042492.3(NF1):c.1108C>A (p.Pro370Thr)
|
|
|
NM_001042492.3(NF1):c.1108C>T (p.Pro370Ser)
|
rs878853862
|
|
NM_001042492.3(NF1):c.1112C>T (p.Ala371Val)
|
rs1597681991
|
|
NM_001042492.3(NF1):c.1115A>T (p.Asp372Val)
|
rs2066519935
|
|
NM_001042492.3(NF1):c.1117G>A (p.Val373Met)
|
|
|
NM_001042492.3(NF1):c.1118T>C (p.Val373Ala)
|
rs1597682016
|
|
NM_001042492.3(NF1):c.1120G>A (p.Asp374Asn)
|
rs876658666
|
|
NM_001042492.3(NF1):c.1121A>T (p.Asp374Val)
|
rs876660856
|
|
NM_001042492.3(NF1):c.1123C>A (p.Leu375Ile)
|
|
|
NM_001042492.3(NF1):c.1123C>G (p.Leu375Val)
|
|
|
NM_001042492.3(NF1):c.1128G>A (p.Met376Ile)
|
rs2143879572
|
|
NM_001042492.3(NF1):c.1128G>T (p.Met376Ile)
|
|
|
NM_001042492.3(NF1):c.1129A>G (p.Ile377Val)
|
rs2143879598
|
|
NM_001042492.3(NF1):c.1129A>T (p.Ile377Phe)
|
rs2143879598
|
|
NM_001042492.3(NF1):c.1134C>G (p.Asp378Glu)
|
rs781367679
|
|
NM_001042492.3(NF1):c.1137C>G (p.Cys379Trp)
|
|
|
NM_001042492.3(NF1):c.1138C>G (p.Leu380Val)
|
|
|
NM_001042492.3(NF1):c.1139T>G (p.Leu380Arg)
|
rs1555611004
|
|
NM_001042492.3(NF1):c.1141G>A (p.Val381Ile)
|
rs876660276
|
|
NM_001042492.3(NF1):c.1141G>T (p.Val381Phe)
|
rs876660276
|
|
NM_001042492.3(NF1):c.1144T>C (p.Ser382Pro)
|
rs2066520625
|
|
NM_001042492.3(NF1):c.1145C>T (p.Ser382Phe)
|
rs1555611016
|
|
NM_001042492.3(NF1):c.1147T>A (p.Cys383Ser)
|
|
|
NM_001042492.3(NF1):c.1148G>T (p.Cys383Phe)
|
rs1597682085
|
|
NM_001042492.3(NF1):c.1153C>A (p.Arg385Ser)
|
|
|
NM_001042492.3(NF1):c.1153C>G (p.Arg385Gly)
|
rs1322986962
|
|
NM_001042492.3(NF1):c.1154G>A (p.Arg385His)
|
rs1350329837
|
|
NM_001042492.3(NF1):c.1154G>C (p.Arg385Pro)
|
rs1350329837
|
|
NM_001042492.3(NF1):c.1157T>C (p.Ile386Thr)
|
rs2143880084
|
|
NM_001042492.3(NF1):c.1160G>A (p.Ser387Asn)
|
rs1555611025
|
|
NM_001042492.3(NF1):c.1160G>T (p.Ser387Ile)
|
|
|
NM_001042492.3(NF1):c.1162C>T (p.Pro388Ser)
|
rs2143880229
|
|
NM_001042492.3(NF1):c.116A>G (p.Asn39Ser)
|
rs1567814494
|
|
NM_001042492.3(NF1):c.116A>T (p.Asn39Ile)
|
rs1567814494
|
|
NM_001042492.3(NF1):c.1172A>G (p.Asn391Ser)
|
|
|
NM_001042492.3(NF1):c.1175A>G (p.Gln392Arg)
|
|
|
NM_001042492.3(NF1):c.1177C>T (p.His393Tyr)
|
rs199474768
|
|
NM_001042492.3(NF1):c.1178A>G (p.His393Arg)
|
rs199474769
|
|
NM_001042492.3(NF1):c.1179C>A (p.His393Gln)
|
|
|
NM_001042492.3(NF1):c.1182T>A (p.Phe394Leu)
|
|
|
NM_001042492.3(NF1):c.1182T>G (p.Phe394Leu)
|
rs786202581
|
|
NM_001042492.3(NF1):c.1183A>C (p.Lys395Gln)
|
rs770767889
|
|
NM_001042492.3(NF1):c.1183A>G (p.Lys395Glu)
|
rs770767889
|
|
NM_001042492.3(NF1):c.1185+20T>G
|
rs2066522265
|
|
NM_001042492.3(NF1):c.1185+5G>A
|
rs1597682182
|
|
NM_001042492.3(NF1):c.1185+5G>T
|
|
|
NM_001042492.3(NF1):c.1185+6A>G
|
|
|
NM_001042492.3(NF1):c.1185+6A>T
|
|
|
NM_001042492.3(NF1):c.1185+7G>C
|
rs1322791959
|
|
NM_001042492.3(NF1):c.1186-17_1186-7del
|
rs2143884997
|
|
NM_001042492.3(NF1):c.1186-3T>C
|
rs2066527385
|
|
NM_001042492.3(NF1):c.1186A>C (p.Ile396Leu)
|
rs1413735911
|
|
NM_001042492.3(NF1):c.1187T>A (p.Ile396Asn)
|
rs2143885518
|
|
NM_001042492.3(NF1):c.1187T>G (p.Ile396Ser)
|
|
|
NM_001042492.3(NF1):c.1188C>G (p.Ile396Met)
|
|
|
NM_001042492.3(NF1):c.1190G>A (p.Cys397Tyr)
|
|
|
NM_001042492.3(NF1):c.1190G>C (p.Cys397Ser)
|
rs786201937
|
|
NM_001042492.3(NF1):c.1190G>T (p.Cys397Phe)
|
rs786201937
|
|
NM_001042492.3(NF1):c.1192C>G (p.Leu398Val)
|
|
|
NM_001042492.3(NF1):c.1193T>A (p.Leu398Gln)
|
|
|
NM_001042492.3(NF1):c.1198C>G (p.Gln400Glu)
|
|
|
NM_001042492.3(NF1):c.1199A>G (p.Gln400Arg)
|
rs2143885791
|
|
NM_001042492.3(NF1):c.119A>G (p.Lys40Arg)
|
|
|
NM_001042492.3(NF1):c.1200G>C (p.Gln400His)
|
rs2066527837
|
|
NM_001042492.3(NF1):c.1204T>G (p.Ser402Ala)
|
rs2143885887
|
|
NM_001042492.3(NF1):c.1207C>A (p.Pro403Thr)
|
rs2066527867
|
|
NM_001042492.3(NF1):c.1207C>T (p.Pro403Ser)
|
rs2066527867
|
|
NM_001042492.3(NF1):c.1208C>T (p.Pro403Leu)
|
|
|
NM_001042492.3(NF1):c.120G>C (p.Lys40Asn)
|
rs2065656004
|
|
NM_001042492.3(NF1):c.1211C>A (p.Ser404Tyr)
|
rs1597682758
|
|
NM_001042492.3(NF1):c.1213A>T (p.Thr405Ser)
|
|
|
NM_001042492.3(NF1):c.1214C>T (p.Thr405Ile)
|
rs1555611082
|
|
NM_001042492.3(NF1):c.1216T>C (p.Phe406Leu)
|
|
|
NM_001042492.3(NF1):c.1222T>G (p.Tyr408Asp)
|
rs2066528210
|
|
NM_001042492.3(NF1):c.1225G>A (p.Val409Met)
|
rs2143886228
|
|
NM_001042492.3(NF1):c.1226T>A (p.Val409Glu)
|
rs876660378
|
|
NM_001042492.3(NF1):c.1229T>G (p.Leu410Arg)
|
rs1376759287
|
|
NM_001042492.3(NF1):c.122A>C (p.Glu41Ala)
|
rs786203038
|
|
NM_001042492.3(NF1):c.1231G>A (p.Val411Ile)
|
rs199703072
|
|
NM_001042492.3(NF1):c.1231G>C (p.Val411Leu)
|
|
|
NM_001042492.3(NF1):c.1233A>G (p.Val411=)
|
rs2143886403
|
|
NM_001042492.3(NF1):c.1234A>T (p.Asn412Tyr)
|
rs2143886448
|
|
NM_001042492.3(NF1):c.1235A>G (p.Asn412Ser)
|
rs1567836090
|
|
NM_001042492.3(NF1):c.1237T>A (p.Ser413Thr)
|
rs1555611093
|
|
NM_001042492.3(NF1):c.1238C>T (p.Ser413Leu)
|
|
|
NM_001042492.3(NF1):c.1241T>C (p.Leu414Pro)
|
|
|
NM_001042492.3(NF1):c.1244A>G (p.His415Arg)
|
rs1555611097
|
|
NM_001042492.3(NF1):c.1246C>G (p.Arg416Gly)
|
|
|
NM_001042492.3(NF1):c.1247G>C (p.Arg416Pro)
|
|
|
NM_001042492.3(NF1):c.1252A>G (p.Ile418Val)
|
rs1597682898
|
|
NM_001042492.3(NF1):c.1254C>T (p.Ile418=)
|
|
|
NM_001042492.3(NF1):c.1258A>C (p.Asn420His)
|
rs2066529281
|
|
NM_001042492.3(NF1):c.1258A>G (p.Asn420Asp)
|
|
|
NM_001042492.3(NF1):c.1259A>G (p.Asn420Ser)
|
rs1555611107
|
|
NM_001042492.3(NF1):c.125G>A (p.Cys42Tyr)
|
rs2143626240
|
|
NM_001042492.3(NF1):c.1260+15T>C
|
|
|
NM_001042492.3(NF1):c.1260+3A>G
|
|
|
NM_001042492.3(NF1):c.1260+4A>G
|
rs2066529521
|
|
NM_001042492.3(NF1):c.1260+4A>T
|
rs2066529521
|
|
NM_001042492.3(NF1):c.1260+5G>T
|
rs1060500253
|
|
NM_001042492.3(NF1):c.1260+6T>A
|
|
|
NM_001042492.3(NF1):c.1260+6T>C
|
rs1555611111
|
|
NM_001042492.3(NF1):c.1260+6T>G
|
rs1555611111
|
|
NM_001042492.3(NF1):c.1260T>C (p.Asn420=)
|
rs2143887054
|
|
NM_001042492.3(NF1):c.1261-20T>A
|
rs2143913090
|
|
NM_001042492.3(NF1):c.1261-3T>A
|
rs761761583
|
|
NM_001042492.3(NF1):c.1261-3T>C
|
|
|
NM_001042492.3(NF1):c.1261-4C>G
|
rs587781820
|
|
NM_001042492.3(NF1):c.1261T>A (p.Ser421Thr)
|
rs878853864
|
|
NM_001042492.3(NF1):c.1261T>G (p.Ser421Ala)
|
rs878853864
|
|
NM_001042492.3(NF1):c.1262C>T (p.Ser421Phe)
|
|
|
NM_001042492.3(NF1):c.1263C>A (p.Ser421=)
|
rs767410768
|
|
NM_001042492.3(NF1):c.1264G>T (p.Ala422Ser)
|
rs786202145
|
|
NM_001042492.3(NF1):c.1265C>T (p.Ala422Val)
|
rs2143913535
|
|
NM_001042492.3(NF1):c.1268T>G (p.Leu423Trp)
|
|
|
NM_001042492.3(NF1):c.1270G>A (p.Asp424Asn)
|
rs2066619067
|
|
NM_001042492.3(NF1):c.1273T>C (p.Trp425Arg)
|
|
|
NM_001042492.3(NF1):c.1274G>C (p.Trp425Ser)
|
rs1597688734
|
|
NM_001042492.3(NF1):c.1280C>T (p.Pro427Leu)
|
rs1597688746
|
|
NM_001042492.3(NF1):c.1282A>G (p.Lys428Glu)
|
rs1597688751
|
|
NM_001042492.3(NF1):c.1286T>C (p.Ile429Thr)
|
rs2143913858
|
|
NM_001042492.3(NF1):c.1289A>T (p.Asp430Val)
|
|
|
NM_001042492.3(NF1):c.128T>G (p.Leu43Arg)
|
|
|
NM_001042492.3(NF1):c.1291G>A (p.Ala431Thr)
|
rs2066619337
|
|
NM_001042492.3(NF1):c.1291G>T (p.Ala431Ser)
|
|
|
NM_001042492.3(NF1):c.1295T>C (p.Val432Ala)
|
rs866238485
|
|
NM_001042492.3(NF1):c.1298A>T (p.Tyr433Phe)
|
|
|
NM_001042492.3(NF1):c.129_131del (p.Ile44del)
|
rs1597625973
|
|
NM_001042492.3(NF1):c.1303C>T (p.His435Tyr)
|
|
|
NM_001042492.3(NF1):c.1304A>G (p.His435Arg)
|
rs1555611571
|
|
NM_001042492.3(NF1):c.1305C>A (p.His435Gln)
|
|
|
NM_001042492.3(NF1):c.1307C>T (p.Ser436Leu)
|
rs755190083
|
|
NM_001042492.3(NF1):c.1309G>T (p.Val437Phe)
|
rs1555611574
|
|
NM_001042492.3(NF1):c.130A>G (p.Ile44Val)
|
rs1597625982
|
|
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.1315C>T (p.Leu439Phe)
|
|
|
NM_001042492.3(NF1):c.1316T>C (p.Leu439Pro)
|
rs2143914353
|
|
NM_001042492.3(NF1):c.1316T>G (p.Leu439Arg)
|
|
|
NM_001042492.3(NF1):c.1319G>C (p.Arg440Pro)
|
|
|
NM_001042492.3(NF1):c.131T>A (p.Ile44Asn)
|
|
|
NM_001042492.3(NF1):c.1321A>G (p.Asn441Asp)
|
rs2066620307
|
|
NM_001042492.3(NF1):c.1322A>G (p.Asn441Ser)
|
rs370020114
|
|
NM_001042492.3(NF1):c.1324A>G (p.Met442Val)
|
rs2066620431
|
|
NM_001042492.3(NF1):c.1325T>C (p.Met442Thr)
|
rs1555611580
|
|
NM_001042492.3(NF1):c.1326G>A (p.Met442Ile)
|
|
|
NM_001042492.3(NF1):c.1328T>C (p.Phe443Ser)
|
rs1555611581
|
|
NM_001042492.3(NF1):c.132C>G (p.Ile44Met)
|
|
|
NM_001042492.3(NF1):c.1330G>A (p.Gly444Ser)
|
|
|
NM_001042492.3(NF1):c.1330G>C (p.Gly444Arg)
|
rs1162173842
|
|
NM_001042492.3(NF1):c.1331G>A (p.Gly444Asp)
|
rs1555611582
|
|
NM_001042492.3(NF1):c.1331G>C (p.Gly444Ala)
|
|
|
NM_001042492.3(NF1):c.1336A>G (p.Thr446Ala)
|
|
|
NM_001042492.3(NF1):c.1339C>G (p.Leu447Val)
|
rs2066620866
|
|
NM_001042492.3(NF1):c.1339C>T (p.Leu447Phe)
|
|
|
NM_001042492.3(NF1):c.1342C>A (p.His448Asn)
|
|
|
NM_001042492.3(NF1):c.1342C>T (p.His448Tyr)
|
rs1131691257
|
|
NM_001042492.3(NF1):c.1343A>G (p.His448Arg)
|
|
|
NM_001042492.3(NF1):c.1347A>C (p.Lys449Asn)
|
rs2143914827
|
|
NM_001042492.3(NF1):c.1348G>A (p.Ala450Thr)
|
rs2143914842
|
|
NM_001042492.3(NF1):c.134A>C (p.Asn45Thr)
|
|
|
NM_001042492.3(NF1):c.1351G>A (p.Val451Met)
|
|
|
NM_001042492.3(NF1):c.1352T>C (p.Val451Ala)
|
rs747466938
|
|
NM_001042492.3(NF1):c.1352T>G (p.Val451Gly)
|
rs747466938
|
|
NM_001042492.3(NF1):c.1355A>T (p.Gln452Leu)
|
rs2066621372
|
|
NM_001042492.3(NF1):c.1356A>C (p.Gln452His)
|
rs1324833228
|
|
NM_001042492.3(NF1):c.1358G>A (p.Gly453Asp)
|
rs876660915
|
|
NM_001042492.3(NF1):c.1358G>C (p.Gly453Ala)
|
|
|
NM_001042492.3(NF1):c.1358G>T (p.Gly453Val)
|
rs876660915
|
|
NM_001042492.3(NF1):c.1361G>A (p.Cys454Tyr)
|
rs983914251
|
|
NM_001042492.3(NF1):c.1363_1364delinsAA (p.Gly455Lys)
|
|
|
NM_001042492.3(NF1):c.1364G>A (p.Gly455Glu)
|
|
|
NM_001042492.3(NF1):c.1364G>T (p.Gly455Val)
|
|
|
NM_001042492.3(NF1):c.1367C>T (p.Ala456Val)
|
rs1597688962
|
|
NM_001042492.3(NF1):c.1369C>G (p.His457Asp)
|
|
|
NM_001042492.3(NF1):c.1370A>T (p.His457Leu)
|
rs786202763
|
|
NM_001042492.3(NF1):c.1370_1372del (p.His457del)
|
rs1567838357
|
|
NM_001042492.3(NF1):c.1371C>A (p.His457Gln)
|
rs1318894606
|
|
NM_001042492.3(NF1):c.1371C>G (p.His457Gln)
|
|
|
NM_001042492.3(NF1):c.1372C>G (p.Pro458Ala)
|
rs1597688990
|
|
NM_001042492.3(NF1):c.1372C>T (p.Pro458Ser)
|
|
|
NM_001042492.3(NF1):c.1373C>A (p.Pro458Gln)
|
rs781555047
|
|
NM_001042492.3(NF1):c.1373C>T (p.Pro458Leu)
|
rs781555047
|
|
NM_001042492.3(NF1):c.1376C>A (p.Ala459Glu)
|
rs1131691070
|
|
NM_001042492.3(NF1):c.1376C>T (p.Ala459Val)
|
rs1131691070
|
|
NM_001042492.3(NF1):c.1378A>G (p.Ile460Val)
|
|
|
NM_001042492.3(NF1):c.1379T>C (p.Ile460Thr)
|
rs147417054
|
|
NM_001042492.3(NF1):c.1380A>G (p.Ile460Met)
|
|
|
NM_001042492.3(NF1):c.1381C>A (p.Arg461=)
|
rs878853865
|
|
NM_001042492.3(NF1):c.1382G>A (p.Arg461Gln)
|
rs1555611606
|
|
NM_001042492.3(NF1):c.1382G>T (p.Arg461Leu)
|
rs1555611606
|
|
NM_001042492.3(NF1):c.1384A>G (p.Met462Val)
|
|
|
NM_001042492.3(NF1):c.1386G>A (p.Met462Ile)
|
|
|
NM_001042492.3(NF1):c.1387G>A (p.Ala463Thr)
|
|
|
NM_001042492.3(NF1):c.1387G>C (p.Ala463Pro)
|
rs1555611607
|
|
NM_001042492.3(NF1):c.1388C>T (p.Ala463Val)
|
|
|
NM_001042492.3(NF1):c.1390C>T (p.Pro464Ser)
|
|
|
NM_001042492.3(NF1):c.1391C>A (p.Pro464Gln)
|
rs1269425503
|
|
NM_001042492.3(NF1):c.1391C>T (p.Pro464Leu)
|
rs1269425503
|
|
NM_001042492.3(NF1):c.1392+4A>G
|
rs1555611611
|
|
NM_001042492.3(NF1):c.1392+5G>A
|
rs199999754
|
|
NM_001042492.3(NF1):c.1392+5_1392+6delinsTT
|
rs587782851
|
|
NM_001042492.3(NF1):c.1392G>T (p.Pro464=)
|
rs201604273
|
|
NM_001042492.3(NF1):c.1393-1555C>G
|
|
|
NM_001042492.3(NF1):c.1393-1G>T
|
rs1131691131
|
|
NM_001042492.3(NF1):c.1393-2dup
|
rs1394021280
|
|
NM_001042492.3(NF1):c.1393-9T>C
|
rs1314978150
|
|
NM_001042492.3(NF1):c.1393A>G (p.Ser465Gly)
|
|
|
NM_001042492.3(NF1):c.1394G>A (p.Ser465Asn)
|
|
|
NM_001042492.3(NF1):c.1396C>G (p.Leu466Val)
|
rs2143958637
|
|
NM_001042492.3(NF1):c.1399A>C (p.Thr467Pro)
|
|
|
NM_001042492.3(NF1):c.1400C>A (p.Thr467Lys)
|
rs1567841729
|
|
NM_001042492.3(NF1):c.1400C>T (p.Thr467Ile)
|
rs1567841729
|
|
NM_001042492.3(NF1):c.1404T>A (p.Phe468Leu)
|
|
|
NM_001042492.3(NF1):c.1405A>G (p.Lys469Glu)
|
rs1555612271
|
|
NM_001042492.3(NF1):c.1406A>G (p.Lys469Arg)
|
rs2066785596
|
|
NM_001042492.3(NF1):c.1407A>C (p.Lys469Asn)
|
|
|
NM_001042492.3(NF1):c.1407A>G (p.Lys469=)
|
rs2143958833
|
|
NM_001042492.3(NF1):c.1409A>G (p.Glu470Gly)
|
|
|
NM_001042492.3(NF1):c.1414_1440dup (p.Val472_Lys480dup)
|
rs1597698326
|
|
NM_001042492.3(NF1):c.1418C>T (p.Thr473Ile)
|
rs2143958993
|
|
NM_001042492.3(NF1):c.1421G>A (p.Ser474Asn)
|
rs2066785879
|
|
NM_001042492.3(NF1):c.1421G>C (p.Ser474Thr)
|
rs2066785879
|
|
NM_001042492.3(NF1):c.1423C>G (p.Leu475Val)
|
|
|
NM_001042492.3(NF1):c.1429T>C (p.Phe477Leu)
|
rs1555612276
|
|
NM_001042492.3(NF1):c.1431T>A (p.Phe477Leu)
|
rs1555612278
|
|
NM_001042492.3(NF1):c.1432A>G (p.Lys478Glu)
|
|
|
NM_001042492.3(NF1):c.1439A>C (p.Lys480Thr)
|
rs587781675
|
|
NM_001042492.3(NF1):c.143A>C (p.Lys48Thr)
|
rs1555604902
|
|
NM_001042492.3(NF1):c.1442C>T (p.Pro481Leu)
|
rs1355572914
|
|
NM_001042492.3(NF1):c.1445C>T (p.Thr482Ile)
|
rs1004943800
|
|
NM_001042492.3(NF1):c.1447G>A (p.Asp483Asn)
|
|
|
NM_001042492.3(NF1):c.1448A>T (p.Asp483Val)
|
|
|
NM_001042492.3(NF1):c.1456A>T (p.Thr486Ser)
|
rs1060500305
|
|
NM_001042492.3(NF1):c.1457C>T (p.Thr486Ile)
|
rs1019393337
|
|
NM_001042492.3(NF1):c.1459A>G (p.Arg487Gly)
|
rs1597698420
|
|
NM_001042492.3(NF1):c.145T>C (p.Tyr49His)
|
|
|
NM_001042492.3(NF1):c.1460G>A (p.Arg487Lys)
|
rs1135402809
|
|
NM_001042492.3(NF1):c.1463G>A (p.Ser488Asn)
|
rs2066786622
|
|
NM_001042492.3(NF1):c.1465T>C (p.Tyr489His)
|
rs2066786672
|
|
NM_001042492.3(NF1):c.1465T>G (p.Tyr489Asp)
|
rs2066786672
|
|
NM_001042492.3(NF1):c.1465_1466insGGAGACAAGAAGAGA (p.Tyr489delinsTrpArgGlnGluGluAsn)
|
|
|
NM_001042492.3(NF1):c.1466A>C (p.Tyr489Ser)
|
|
|
NM_001042492.3(NF1):c.1468A>G (p.Lys490Glu)
|
rs1181298067
|
|
NM_001042492.3(NF1):c.1469A>G (p.Lys490Arg)
|
rs1060500260
|
|
NM_001042492.3(NF1):c.1469A>T (p.Lys490Met)
|
|
|
NM_001042492.3(NF1):c.146A>G (p.Tyr49Cys)
|
rs2143626634
|
|
NM_001042492.3(NF1):c.146A>T (p.Tyr49Phe)
|
|
|
NM_001042492.3(NF1):c.1471T>A (p.Tyr491Asn)
|
rs2143959726
|
|
NM_001042492.3(NF1):c.1477C>G (p.Leu493Val)
|
rs1135402812
|
|
NM_001042492.3(NF1):c.1477C>T (p.Leu493Phe)
|
rs1135402812
|
|
NM_001042492.3(NF1):c.1478T>G (p.Leu493Arg)
|
|
|
NM_001042492.3(NF1):c.1480T>A (p.Leu494Met)
|
rs878853867
|
|
NM_001042492.3(NF1):c.1481T>C (p.Leu494Ser)
|
|
|
NM_001042492.3(NF1):c.1482G>T (p.Leu494Phe)
|
|
|
NM_001042492.3(NF1):c.1482_1499del (p.Leu494_Ile500delinsPhe)
|
rs2143959924
|
|
NM_001042492.3(NF1):c.1486A>T (p.Met496Leu)
|
|
|
NM_001042492.3(NF1):c.1487T>A (p.Met496Lys)
|
|
|
NM_001042492.3(NF1):c.1489G>A (p.Val497Met)
|
|
|
NM_001042492.3(NF1):c.1490T>A (p.Val497Glu)
|
|
|
NM_001042492.3(NF1):c.1491_1499del (p.Lys498_Ile500del)
|
rs2143960093
|
|
NM_001042492.3(NF1):c.1493A>G (p.Lys498Arg)
|
|
|
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.1498_1500del (p.Ile500del)
|
rs2143960261
|
|
NM_001042492.3(NF1):c.1499T>A (p.Ile500Asn)
|
rs2066787362
|
|
NM_001042492.3(NF1):c.149A>G (p.Lys50Arg)
|
rs1555604907
|
|
NM_001042492.3(NF1):c.1502A>T (p.His501Leu)
|
rs1597698479
|
|
NM_001042492.3(NF1):c.1503T>G (p.His501Gln)
|
|
|
NM_001042492.3(NF1):c.1504G>C (p.Ala502Pro)
|
|
|
NM_001042492.3(NF1):c.1505C>G (p.Ala502Gly)
|
|
|
NM_001042492.3(NF1):c.150G>C (p.Lys50Asn)
|
rs1597626037
|
|
NM_001042492.3(NF1):c.150G>T (p.Lys50Asn)
|
|
|
NM_001042492.3(NF1):c.1510C>A (p.Pro504Thr)
|
rs1597698495
|
|
NM_001042492.3(NF1):c.1510C>G (p.Pro504Ala)
|
|
|
NM_001042492.3(NF1):c.1510_1524del (p.Pro504_Leu508del)
|
rs2143960475
|
|
NM_001042492.3(NF1):c.1515G>C (p.Lys505Asn)
|
|
|
NM_001042492.3(NF1):c.1517T>G (p.Leu506Arg)
|
|
|
NM_001042492.3(NF1):c.1522C>A (p.Leu508Ile)
|
|
|
NM_001042492.3(NF1):c.1522C>T (p.Leu508Phe)
|
rs1597698512
|
|
NM_001042492.3(NF1):c.1523T>A (p.Leu508His)
|
|
|
NM_001042492.3(NF1):c.1523T>G (p.Leu508Arg)
|
|
|
NM_001042492.3(NF1):c.1526G>A (p.Cys509Tyr)
|
rs1597698521
|
|
NM_001042492.3(NF1):c.1527+2dup
|
rs1597698533
|
|
NM_001042492.3(NF1):c.1527+3A>C
|
rs2066788106
|
|
NM_001042492.3(NF1):c.1527+5G>A
|
rs1060500352
|
|
NM_001042492.3(NF1):c.1527+5G>C
|
rs1060500352
|
|
NM_001042492.3(NF1):c.1527T>C (p.Cys509=)
|
|
|
NM_001042492.3(NF1):c.1528-1G>T
|
rs876660595
|
|
NM_001042492.3(NF1):c.1528-3C>T
|
rs1060500294
|
|
NM_001042492.3(NF1):c.1528-9dup
|
rs776722942
|
|
NM_001042492.3(NF1):c.1529A>C (p.Asn510Thr)
|
rs876660091
|
|
NM_001042492.3(NF1):c.1529A>G (p.Asn510Ser)
|
rs876660091
|
|
NM_001042492.3(NF1):c.1535G>T (p.Arg512Ile)
|
|
|
NM_001042492.3(NF1):c.1536A>C (p.Arg512Ser)
|
|
|
NM_001042492.3(NF1):c.1538A>G (p.Lys513Arg)
|
rs876659336
|
|
NM_001042492.3(NF1):c.1541A>G (p.Gln514Arg)
|
rs775369084
|
|
NM_001042492.3(NF1):c.1543G>A (p.Gly515Arg)
|
|
|
NM_001042492.3(NF1):c.1544G>A (p.Gly515Glu)
|
rs2143985792
|
|
NM_001042492.3(NF1):c.1546C>A (p.Pro516Thr)
|
|
|
NM_001042492.3(NF1):c.1546C>T (p.Pro516Ser)
|
|
|
NM_001042492.3(NF1):c.1547C>G (p.Pro516Arg)
|
|
|
NM_001042492.3(NF1):c.1547C>T (p.Pro516Leu)
|
|
|
NM_001042492.3(NF1):c.1551A>C (p.Glu517Asp)
|
|
|
NM_001042492.3(NF1):c.1559G>A (p.Gly520Asp)
|
|
|
NM_001042492.3(NF1):c.1560C>T (p.Gly520=)
|
rs112168406
|
|
NM_001042492.3(NF1):c.1565C>T (p.Thr522Ile)
|
|
|
NM_001042492.3(NF1):c.1568C>A (p.Ala523Glu)
|
rs2143986218
|
|
NM_001042492.3(NF1):c.1570G>A (p.Glu524Lys)
|
|
|
NM_001042492.3(NF1):c.1571A>G (p.Glu524Gly)
|
|
|
NM_001042492.3(NF1):c.1579A>T (p.Thr527Ser)
|
rs1567843874
|
|
NM_001042492.3(NF1):c.1582G>A (p.Gly528Arg)
|
rs2143986428
|
|
NM_001042492.3(NF1):c.1582G>T (p.Gly528Trp)
|
rs2143986428
|
|
NM_001042492.3(NF1):c.1583G>A (p.Gly528Glu)
|
|
|
NM_001042492.3(NF1):c.1586T>A (p.Leu529His)
|
|
|
NM_001042492.3(NF1):c.1592A>T (p.Gln531Leu)
|
rs2143986626
|
|
NM_001042492.3(NF1):c.1593A>C (p.Gln531His)
|
rs773712266
|
|
NM_001042492.3(NF1):c.1594C>T (p.Leu532=)
|
rs2143986669
|
|
NM_001042492.3(NF1):c.1595T>C (p.Leu532Pro)
|
rs199474737
|
|
NM_001042492.3(NF1):c.1598T>A (p.Val533Asp)
|
|
|
NM_001042492.3(NF1):c.159G>C (p.Leu53Phe)
|
|
|
NM_001042492.3(NF1):c.1600C>T (p.Pro534Ser)
|
rs1555612858
|
|
NM_001042492.3(NF1):c.1601C>G (p.Pro534Arg)
|
|
|
NM_001042492.3(NF1):c.1602_1603del (p.Gln535fs)
|
rs2143986796
|
|
NM_001042492.3(NF1):c.1605G>A (p.Gln535=)
|
rs1567843919
|
|
NM_001042492.3(NF1):c.1607C>T (p.Ser536Leu)
|
rs1555612859
|
|
NM_001042492.3(NF1):c.1609C>T (p.His537Tyr)
|
rs786203860
|
|
NM_001042492.3(NF1):c.160G>A (p.Val54Ile)
|
rs1060500330
|
|
NM_001042492.3(NF1):c.160G>T (p.Val54Phe)
|
rs1060500330
|
|
NM_001042492.3(NF1):c.1611C>A (p.His537Gln)
|
rs1597703539
|
|
NM_001042492.3(NF1):c.1614G>A (p.Met538Ile)
|
|
|
NM_001042492.3(NF1):c.1615C>G (p.Pro539Ala)
|
rs1060500366
|
|
NM_001042492.3(NF1):c.1621A>G (p.Ile541Val)
|
rs876660632
|
|
NM_001042492.3(NF1):c.1624G>A (p.Ala542Thr)
|
|
|
NM_001042492.3(NF1):c.1627C>G (p.Gln543Glu)
|
|
|
NM_001042492.3(NF1):c.1629G>C (p.Gln543His)
|
rs2143987265
|
|
NM_001042492.3(NF1):c.1630G>A (p.Glu544Lys)
|
|
|
NM_001042492.3(NF1):c.1631A>C (p.Glu544Ala)
|
|
|
NM_001042492.3(NF1):c.1633G>C (p.Ala545Pro)
|
rs1567843945
|
|
NM_001042492.3(NF1):c.1633G>T (p.Ala545Ser)
|
|
|
NM_001042492.3(NF1):c.1633_1634delinsAA (p.Ala545Lys)
|
rs2143987303
|
|
NM_001042492.3(NF1):c.1634C>T (p.Ala545Val)
|
|
|
NM_001042492.3(NF1):c.1636A>G (p.Met546Val)
|
rs2066877456
|
|
NM_001042492.3(NF1):c.1640_1641+1del
|
rs2143987443
|
|
NM_001042492.3(NF1):c.1641+12A>G
|
|
|
NM_001042492.3(NF1):c.1641+4A>C
|
rs1597703610
|
|
NM_001042492.3(NF1):c.1641+4A>G
|
rs1597703610
|
|
NM_001042492.3(NF1):c.1641+5G>C
|
rs2066878047
|
|
NM_001042492.3(NF1):c.1641G>A (p.Glu547=)
|
|
|
NM_001042492.3(NF1):c.1642-12dup
|
rs2144003305
|
|
NM_001042492.3(NF1):c.1642-3C>T
|
rs1597706610
|
|
NM_001042492.3(NF1):c.1642-5T>A
|
|
|
NM_001042492.3(NF1):c.1642-9A>G
|
rs1597706581
|
|
NM_001042492.3(NF1):c.1642G>C (p.Ala548Pro)
|
|
|
NM_001042492.3(NF1):c.1642G>T (p.Ala548Ser)
|
rs2066927450
|
|
NM_001042492.3(NF1):c.1643C>T (p.Ala548Val)
|
rs1567844997
|
|
NM_001042492.3(NF1):c.1649T>C (p.Leu550Pro)
|
rs886052798
|
|
NM_001042492.3(NF1):c.164T>A (p.Ile55Lys)
|
rs2065657050
|
|
NM_001042492.3(NF1):c.164T>C (p.Ile55Thr)
|
rs2065657050
|
|
NM_001042492.3(NF1):c.1652T>C (p.Val551Ala)
|
rs113867817
|
|
NM_001042492.3(NF1):c.1652T>G (p.Val551Gly)
|
|
|
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.1657C>A (p.His553Asn)
|
|
|
NM_001042492.3(NF1):c.1657C>T (p.His553Tyr)
|
|
|
NM_001042492.3(NF1):c.1661A>G (p.Gln554Arg)
|
rs863224656
|
|
NM_001042492.3(NF1):c.1663T>G (p.Leu555Val)
|
|
|
NM_001042492.3(NF1):c.1666G>C (p.Asp556His)
|
|
|
NM_001042492.3(NF1):c.1667A>G (p.Asp556Gly)
|
rs2144004099
|
|
NM_001042492.3(NF1):c.1668T>G (p.Asp556Glu)
|
|
|
NM_001042492.3(NF1):c.1669A>G (p.Ser557Gly)
|
|
|
NM_001042492.3(NF1):c.166A>G (p.Ser56Gly)
|
rs751891720
|
|
NM_001042492.3(NF1):c.1670G>A (p.Ser557Asn)
|
rs1567845046
|
|
NM_001042492.3(NF1):c.1672A>G (p.Ile558Val)
|
rs2066928417
|
|
NM_001042492.3(NF1):c.1673T>C (p.Ile558Thr)
|
rs2144004218
|
|
NM_001042492.3(NF1):c.1675G>A (p.Asp559Asn)
|
rs2144004244
|
|
NM_001042492.3(NF1):c.1675G>T (p.Asp559Tyr)
|
|
|
NM_001042492.3(NF1):c.1677T>A (p.Asp559Glu)
|
rs1209447028
|
|
NM_001042492.3(NF1):c.1677T>G (p.Asp559Glu)
|
|
|
NM_001042492.3(NF1):c.1685A>C (p.Asn562Thr)
|
rs1597706709
|
|
NM_001042492.3(NF1):c.1687C>T (p.Pro563Ser)
|
rs2066928705
|
|
NM_001042492.3(NF1):c.1690G>A (p.Asp564Asn)
|
rs2144004484
|
|
NM_001042492.3(NF1):c.1690G>T (p.Asp564Tyr)
|
rs2144004484
|
|
NM_001042492.3(NF1):c.1692T>G (p.Asp564Glu)
|
rs1597706718
|
|
NM_001042492.3(NF1):c.1693G>A (p.Ala565Thr)
|
|
|
NM_001042492.3(NF1):c.1696C>G (p.Pro566Ala)
|
rs2066928875
|
|
NM_001042492.3(NF1):c.1697C>T (p.Pro566Leu)
|
|
|
NM_001042492.3(NF1):c.1699G>A (p.Val567Ile)
|
rs1555613200
|
|
NM_001042492.3(NF1):c.169G>T (p.Gly57Cys)
|
rs779727341
|
|
NM_001042492.3(NF1):c.1700T>C (p.Val567Ala)
|
rs2144004648
|
|
NM_001042492.3(NF1):c.1702G>C (p.Glu568Gln)
|
|
|
NM_001042492.3(NF1):c.1703A>G (p.Glu568Gly)
|
rs1597706730
|
|
NM_001042492.3(NF1):c.1705A>G (p.Thr569Ala)
|
|
|
NM_001042492.3(NF1):c.170G>A (p.Gly57Asp)
|
rs1555604925
|
|
NM_001042492.3(NF1):c.170G>T (p.Gly57Val)
|
|
|
NM_001042492.3(NF1):c.1711T>A (p.Trp571Arg)
|
rs2144004785
|
|
NM_001042492.3(NF1):c.1714_1721+5del
|
rs1135402821
|
|
NM_001042492.3(NF1):c.1716G>T (p.Glu572Asp)
|
rs2066929357
|
|
NM_001042492.3(NF1):c.1717A>C (p.Ile573Leu)
|
rs1597706766
|
|
NM_001042492.3(NF1):c.1717A>G (p.Ile573Val)
|
rs1597706766
|
|
NM_001042492.3(NF1):c.1719T>G (p.Ile573Met)
|
rs2144004922
|
|
NM_001042492.3(NF1):c.1720A>C (p.Ser574Arg)
|
rs2066929440
|
|
NM_001042492.3(NF1):c.1720A>G (p.Ser574Gly)
|
|
|
NM_001042492.3(NF1):c.1721+19_1721+21del
|
rs762735676
|
|
NM_001042492.3(NF1):c.1721+4T>A
|
rs766836356
|
|
NM_001042492.3(NF1):c.1721+542A>G
|
rs2066942173
|
|
NM_001042492.3(NF1):c.1721+5A>G
|
rs876658961
|
|
NM_001042492.3(NF1):c.1721+6T>C
|
rs2144005065
|
|
NM_001042492.3(NF1):c.1721+6T>G
|
rs2144005065
|
|
NM_001042492.3(NF1):c.1722-13T>G
|
|
|
NM_001042492.3(NF1):c.1722-14_1722-5del
|
rs2144015153
|
|
NM_001042492.3(NF1):c.1722-24A>G
|
rs1567845793
|
|
NM_001042492.3(NF1):c.1722-24_1722-12del
|
rs2144014907
|
|
NM_001042492.3(NF1):c.1722-3C>A
|
rs770211384
|
|
NM_001042492.3(NF1):c.1722-3C>T
|
|
|
NM_001042492.3(NF1):c.1722-5_1765dup
|
|
|
NM_001042492.3(NF1):c.1722-8T>G
|
|
|
NM_001042492.3(NF1):c.1722-9T>G
|
rs1567845805
|
|
NM_001042492.3(NF1):c.1722C>G (p.Ser574Arg)
|
rs2144015494
|
|
NM_001042492.3(NF1):c.1727A>G (p.Gln576Arg)
|
|
|
NM_001042492.3(NF1):c.172C>G (p.Leu58Val)
|
|
|
NM_001042492.3(NF1):c.172C>T (p.Leu58Phe)
|
rs2065657352
|
|
NM_001042492.3(NF1):c.1731G>A (p.Met577Ile)
|
|
|
NM_001042492.3(NF1):c.1735T>C (p.Phe579Leu)
|
rs2066962078
|
|
NM_001042492.3(NF1):c.1741A>C (p.Ile581Leu)
|
|
|
NM_001042492.3(NF1):c.1741A>G (p.Ile581Val)
|
rs2066962216
|
|
NM_001042492.3(NF1):c.1743C>G (p.Ile581Met)
|
|
|
NM_001042492.3(NF1):c.1744T>C (p.Cys582Arg)
|
rs1597708661
|
|
NM_001042492.3(NF1):c.1744T>G (p.Cys582Gly)
|
rs1597708661
|
|
NM_001042492.3(NF1):c.1745G>C (p.Cys582Ser)
|
rs2066962321
|
|
NM_001042492.3(NF1):c.1746C>G (p.Cys582Trp)
|
rs2066962353
|
|
NM_001042492.3(NF1):c.1747A>G (p.Lys583Glu)
|
|
|
NM_001042492.3(NF1):c.174C>T (p.Leu58=)
|
rs2065657421
|
|
NM_001042492.3(NF1):c.1751A>G (p.Lys584Arg)
|
|
|
NM_001042492.3(NF1):c.1751A>T (p.Lys584Ile)
|
rs1567845855
|
|
NM_001042492.3(NF1):c.1755A>C (p.Leu585Phe)
|
|
|
NM_001042492.3(NF1):c.1756A>G (p.Thr586Ala)
|
rs876659242
|
|
NM_001042492.3(NF1):c.1757C>G (p.Thr586Ser)
|
|
|
NM_001042492.3(NF1):c.1759A>C (p.Ser587Arg)
|
rs1597708695
|
|
NM_001042492.3(NF1):c.1759A>G (p.Ser587Gly)
|
rs1597708695
|
|
NM_001042492.3(NF1):c.175A>G (p.Thr59Ala)
|
rs1567814586
|
|
NM_001042492.3(NF1):c.175A>T (p.Thr59Ser)
|
rs1567814586
|
|
NM_001042492.3(NF1):c.1762C>A (p.His588Asn)
|
rs2066962798
|
|
NM_001042492.3(NF1):c.1762C>T (p.His588Tyr)
|
|
|
NM_001042492.3(NF1):c.1765C>A (p.Gln589Lys)
|
rs1282299543
|
|
NM_001042492.3(NF1):c.1767A>C (p.Gln589His)
|
|
|
NM_001042492.3(NF1):c.1767A>T (p.Gln589His)
|
|
|
NM_001042492.3(NF1):c.176C>G (p.Thr59Ser)
|
rs876659891
|
|
NM_001042492.3(NF1):c.176CTA[1] (p.Thr60del)
|
rs2143627187
|
|
NM_001042492.3(NF1):c.1770G>C (p.Met590Ile)
|
rs2144016315
|
|
NM_001042492.3(NF1):c.1771C>G (p.Leu591Val)
|
rs767247726
|
|
NM_001042492.3(NF1):c.1775G>A (p.Ser592Asn)
|
rs760256377
|
|
NM_001042492.3(NF1):c.1778G>A (p.Ser593Asn)
|
rs2066963100
|
|
NM_001042492.3(NF1):c.1778G>T (p.Ser593Ile)
|
|
|
NM_001042492.3(NF1):c.1780A>G (p.Thr594Ala)
|
rs1555613419
|
|
NM_001042492.3(NF1):c.1788T>G (p.Ile596Met)
|
rs2066963288
|
|
NM_001042492.3(NF1):c.1789C>T (p.Leu597Phe)
|
rs2066963329
|
|
NM_001042492.3(NF1):c.1791C>T (p.Leu597=)
|
|
|
NM_001042492.3(NF1):c.1793A>C (p.Lys598Thr)
|
rs2066963397
|
|
NM_001042492.3(NF1):c.1793A>G (p.Lys598Arg)
|
rs2066963397
|
|
NM_001042492.3(NF1):c.1795T>C (p.Trp599Arg)
|
|
|
NM_001042492.3(NF1):c.179C>G (p.Thr60Ser)
|
rs1007047958
|
|
NM_001042492.3(NF1):c.179C>T (p.Thr60Ile)
|
|
|
NM_001042492.3(NF1):c.1802G>A (p.Arg601Gln)
|
rs1060500288
|
|
NM_001042492.3(NF1):c.1804G>C (p.Glu602Gln)
|
rs1060500322
|
|
NM_001042492.3(NF1):c.1805A>T (p.Glu602Val)
|
rs1597708772
|
|
NM_001042492.3(NF1):c.1806A>T (p.Glu602Asp)
|
rs370454753
|
|
NM_001042492.3(NF1):c.1812G>T (p.Leu604Phe)
|
rs2066963883
|
|
NM_001042492.3(NF1):c.1813A>G (p.Ile605Val)
|
rs2144016888
|
|
NM_001042492.3(NF1):c.1814T>C (p.Ile605Thr)
|
rs386833409
|
|
NM_001042492.3(NF1):c.1817G>A (p.Cys606Tyr)
|
|
|
NM_001042492.3(NF1):c.1817G>T (p.Cys606Phe)
|
|
|
NM_001042492.3(NF1):c.1818C>T (p.Cys606=)
|
rs1567845937
|
|
NM_001042492.3(NF1):c.1819A>G (p.Arg607Gly)
|
|
|
NM_001042492.3(NF1):c.1825A>C (p.Lys609Gln)
|
|
|
NM_001042492.3(NF1):c.1826A>G (p.Lys609Arg)
|
rs1597708810
|
|
NM_001042492.3(NF1):c.1829T>A (p.Phe610Tyr)
|
rs2144017133
|
|
NM_001042492.3(NF1):c.1831C>T (p.Leu611Phe)
|
|
|
NM_001042492.3(NF1):c.1831CTT[1] (p.Leu612del)
|
rs2066964109
|
|
NM_001042492.3(NF1):c.1839_1844del (p.Asn614_Lys615del)
|
rs1597708816
|
|
NM_001042492.3(NF1):c.1845+3A>C
|
rs2066964401
|
|
NM_001042492.3(NF1):c.1845+3A>T
|
|
|
NM_001042492.3(NF1):c.1845+4del
|
|
|
NM_001042492.3(NF1):c.1845+5G>A
|
|
|
NM_001042492.3(NF1):c.1846-1G>T
|
rs1264981771
|
|
NM_001042492.3(NF1):c.1846-2A>G
|
rs1567846609
|
|
NM_001042492.3(NF1):c.1846-3T>A
|
rs1555613541
|
|
NM_001042492.3(NF1):c.1846-3T>C
|
rs1555613541
|
|
NM_001042492.3(NF1):c.1846-8T>A
|
rs886052799
|
|
NM_001042492.3(NF1):c.1846C>G (p.Gln616Glu)
|
rs1555613543
|
|
NM_001042492.3(NF1):c.1850C>A (p.Ala617Glu)
|
rs1461412558
|
|
NM_001042492.3(NF1):c.1852G>A (p.Asp618Asn)
|
|
|
NM_001042492.3(NF1):c.1853A>G (p.Asp618Gly)
|
|
|
NM_001042492.3(NF1):c.1854T>G (p.Asp618Glu)
|
rs1184750227
|
|
NM_001042492.3(NF1):c.1855A>G (p.Arg619Gly)
|
rs587781821
|
|
NM_001042492.3(NF1):c.1859G>A (p.Ser620Asn)
|
rs1597710354
|
|
NM_001042492.3(NF1):c.1859_1861del (p.Ser620_Ser621delinsThr)
|
rs2066989737
|
|
NM_001042492.3(NF1):c.1862C>T (p.Ser621Phe)
|
rs760346063
|
|
NM_001042492.3(NF1):c.1864T>G (p.Cys622Gly)
|
|
|
NM_001042492.3(NF1):c.1865G>A (p.Cys622Tyr)
|
rs535869486
|
|
NM_001042492.3(NF1):c.1866T>C (p.Cys622=)
|
rs753245823
|
|
NM_001042492.3(NF1):c.1867C>T (p.His623Tyr)
|
rs759555122
|
|
NM_001042492.3(NF1):c.1868A>G (p.His623Arg)
|
rs1555613555
|
|
NM_001042492.3(NF1):c.1869C>A (p.His623Gln)
|
|
|
NM_001042492.3(NF1):c.1869C>G (p.His623Gln)
|
rs1555613556
|
|
NM_001042492.3(NF1):c.1871T>C (p.Phe624Ser)
|
rs1597710397
|
|
NM_001042492.3(NF1):c.1873C>A (p.Leu625Ile)
|
rs2066990176
|
|
NM_001042492.3(NF1):c.1873C>T (p.Leu625Phe)
|
|
|
NM_001042492.3(NF1):c.1877T>C (p.Leu626Pro)
|
rs752591958
|
|
NM_001042492.3(NF1):c.1879T>A (p.Phe627Ile)
|
rs2066990341
|
|
NM_001042492.3(NF1):c.1885G>C (p.Gly629Arg)
|
rs199474738
|
|
NM_001042492.3(NF1):c.1886G>C (p.Gly629Ala)
|
|
|
NM_001042492.3(NF1):c.1886G>T (p.Gly629Val)
|
rs1597710440
|
|
NM_001042492.3(NF1):c.1888G>A (p.Val630Ile)
|
rs751795238
|
|
NM_001042492.3(NF1):c.1888G>T (p.Val630Leu)
|
rs751795238
|
|
NM_001042492.3(NF1):c.1892G>A (p.Gly631Glu)
|
rs876660272
|
|
NM_001042492.3(NF1):c.1892G>C (p.Gly631Ala)
|
rs876660272
|
|
NM_001042492.3(NF1):c.1892G>T (p.Gly631Val)
|
rs876660272
|
|
NM_001042492.3(NF1):c.1895G>A (p.Cys632Tyr)
|
rs1567846698
|
|
NM_001042492.3(NF1):c.1898A>C (p.Asp633Ala)
|
|
|
NM_001042492.3(NF1):c.189G>C (p.Lys63Asn)
|
rs2143627434
|
|
NM_001042492.3(NF1):c.189G>T (p.Lys63Asn)
|
|
|
NM_001042492.3(NF1):c.1903C>T (p.Pro635Ser)
|
|
|
NM_001042492.3(NF1):c.1906T>C (p.Ser636Pro)
|
rs2066991161
|
|
NM_001042492.3(NF1):c.1907C>A (p.Ser636Tyr)
|
rs780412565
|
|
NM_001042492.3(NF1):c.1907C>T (p.Ser636Phe)
|
rs780412565
|
|
NM_001042492.3(NF1):c.1910G>C (p.Ser637Thr)
|
rs749745247
|
|
NM_001042492.3(NF1):c.1911T>G (p.Ser637Arg)
|
rs1456848774
|
|
NM_001042492.3(NF1):c.1913G>T (p.Gly638Val)
|
|
|
NM_001042492.3(NF1):c.1915A>C (p.Asn639His)
|
|
|
NM_001042492.3(NF1):c.1915A>T (p.Asn639Tyr)
|
rs2144026692
|
|
NM_001042492.3(NF1):c.1916A>G (p.Asn639Ser)
|
rs1060500275
|
|
NM_001042492.3(NF1):c.1918A>G (p.Thr640Ala)
|
rs2144026733
|
|
NM_001042492.3(NF1):c.1919C>A (p.Thr640Asn)
|
|
|
NM_001042492.3(NF1):c.1919C>G (p.Thr640Ser)
|
rs1555613573
|
|
NM_001042492.3(NF1):c.1919C>T (p.Thr640Ile)
|
rs1555613573
|
|
NM_001042492.3(NF1):c.1921A>T (p.Ser641Cys)
|
rs769154907
|
|
NM_001042492.3(NF1):c.1922G>A (p.Ser641Asn)
|
|
|
NM_001042492.3(NF1):c.1923T>A (p.Ser641Arg)
|
rs1555613576
|
|
NM_001042492.3(NF1):c.1927A>G (p.Met643Val)
|
|
|
NM_001042492.3(NF1):c.1929G>A (p.Met643Ile)
|
rs2144026901
|
|
NM_001042492.3(NF1):c.1930T>C (p.Ser644Pro)
|
|
|
NM_001042492.3(NF1):c.1930_1935del (p.Ser644_Met645del)
|
rs1373021403
|
|
NM_001042492.3(NF1):c.1931C>A (p.Ser644Tyr)
|
rs1174202288
|
|
NM_001042492.3(NF1):c.1931C>G (p.Ser644Cys)
|
rs1174202288
|
|
NM_001042492.3(NF1):c.1934T>C (p.Met645Thr)
|
|
|
NM_001042492.3(NF1):c.1935G>A (p.Met645Ile)
|
rs1597710605
|
|
NM_001042492.3(NF1):c.1936G>C (p.Asp646His)
|
rs142079728
|
|
NM_001042492.3(NF1):c.1939C>A (p.His647Asn)
|
|
|
NM_001042492.3(NF1):c.1939C>T (p.His647Tyr)
|
rs776251084
|
|
NM_001042492.3(NF1):c.1940A>C (p.His647Pro)
|
rs1170252879
|
|
NM_001042492.3(NF1):c.1940A>G (p.His647Arg)
|
rs1170252879
|
|
NM_001042492.3(NF1):c.1941T>A (p.His647Gln)
|
rs1397958327
|
|
NM_001042492.3(NF1):c.1941T>G (p.His647Gln)
|
rs1397958327
|
|
NM_001042492.3(NF1):c.1949TAC[1] (p.Leu651del)
|
|
|
NM_001042492.3(NF1):c.1950A>C (p.Leu650Phe)
|
rs1597710650
|
|
NM_001042492.3(NF1):c.1954C>G (p.Arg652Gly)
|
|
|
NM_001042492.3(NF1):c.1955G>C (p.Arg652Pro)
|
rs587778549
|
|
NM_001042492.3(NF1):c.1955G>T (p.Arg652Leu)
|
rs587778549
|
|
NM_001042492.3(NF1):c.1957A>G (p.Thr653Ala)
|
rs1597710712
|
|
NM_001042492.3(NF1):c.1960C>A (p.Pro654Thr)
|
rs765281937
|
|
NM_001042492.3(NF1):c.1960C>G (p.Pro654Ala)
|
rs765281937
|
|
NM_001042492.3(NF1):c.1960C>T (p.Pro654Ser)
|
rs765281937
|
|
NM_001042492.3(NF1):c.1960_1962del (p.Pro654del)
|
rs2144027388
|
|
NM_001042492.3(NF1):c.1961C>T (p.Pro654Leu)
|
rs1597710728
|
|
NM_001042492.3(NF1):c.1963G>C (p.Gly655Arg)
|
rs2066993000
|
|
NM_001042492.3(NF1):c.1964G>A (p.Gly655Glu)
|
|
|
NM_001042492.3(NF1):c.1964G>C (p.Gly655Ala)
|
rs1555613596
|
|
NM_001042492.3(NF1):c.1966G>A (p.Ala656Thr)
|
rs1555613598
|
|
NM_001042492.3(NF1):c.1966G>T (p.Ala656Ser)
|
|
|
NM_001042492.3(NF1):c.1967C>A (p.Ala656Asp)
|
rs775414476
|
|
NM_001042492.3(NF1):c.1967C>T (p.Ala656Val)
|
rs775414476
|
|
NM_001042492.3(NF1):c.1969T>A (p.Ser657Thr)
|
rs1471484159
|
|
NM_001042492.3(NF1):c.1969T>G (p.Ser657Ala)
|
rs1471484159
|
|
NM_001042492.3(NF1):c.1970C>G (p.Ser657Cys)
|
|
|
NM_001042492.3(NF1):c.1970C>T (p.Ser657Phe)
|
|
|
NM_001042492.3(NF1):c.1976G>T (p.Arg659Leu)
|
|
|
NM_001042492.3(NF1):c.197A>G (p.Asn66Ser)
|
|
|
NM_001042492.3(NF1):c.1981G>A (p.Gly661Arg)
|
rs2066993430
|
|
NM_001042492.3(NF1):c.1984A>G (p.Lys662Glu)
|
rs1597710793
|
|
NM_001042492.3(NF1):c.1988G>A (p.Gly663Glu)
|
rs2066993661
|
|
NM_001042492.3(NF1):c.1989G>T (p.Gly663=)
|
|
|
NM_001042492.3(NF1):c.198_200del (p.Asn67del)
|
|
|
NM_001042492.3(NF1):c.1994_2001+7del
|
|
|
NM_001042492.3(NF1):c.1996T>A (p.Ser666Thr)
|
|
|
NM_001042492.3(NF1):c.1996T>C (p.Ser666Pro)
|
rs876659281
|
|
NM_001042492.3(NF1):c.1996T>G (p.Ser666Ala)
|
rs876659281
|
|
NM_001042492.3(NF1):c.1997C>T (p.Ser666Phe)
|
rs2066993930
|
|
NM_001042492.3(NF1):c.1998T>C (p.Ser666=)
|
rs1567846823
|
|
NM_001042492.3(NF1):c.2001+3C>G
|
rs876659863
|
|
NM_001042492.3(NF1):c.2001+3C>T
|
|
|
NM_001042492.3(NF1):c.2001+4A>G
|
|
|
NM_001042492.3(NF1):c.2001+5G>A
|
|
|
NM_001042492.3(NF1):c.2001+5G>T
|
rs2144028091
|
|
NM_001042492.3(NF1):c.2001+6C>T
|
|
|
NM_001042492.3(NF1):c.2001G>A (p.Met667Ile)
|
rs1597710853
|
|
NM_001042492.3(NF1):c.2002-4_2002-3del
|
rs786203664
|
|
NM_001042492.3(NF1):c.2002-5C>G
|
rs1165625614
|
|
NM_001042492.3(NF1):c.2002-7_2002-3del
|
|
|
NM_001042492.3(NF1):c.2002G>A (p.Asp668Asn)
|
rs1445299269
|
|
NM_001042492.3(NF1):c.2002G>C (p.Asp668His)
|
|
|
NM_001042492.3(NF1):c.2002G>T (p.Asp668Tyr)
|
rs1445299269
|
|
NM_001042492.3(NF1):c.2006G>A (p.Ser669Asn)
|
rs1288056326
|
|
NM_001042492.3(NF1):c.2009C>T (p.Ala670Val)
|
|
|
NM_001042492.3(NF1):c.2011G>A (p.Ala671Thr)
|
|
|
NM_001042492.3(NF1):c.2011G>T (p.Ala671Ser)
|
rs2151425535
|
|
NM_001042492.3(NF1):c.2012C>G (p.Ala671Gly)
|
rs760900648
|
|
NM_001042492.3(NF1):c.2014G>A (p.Gly672Arg)
|
rs786202632
|
|
NM_001042492.3(NF1):c.2015G>A (p.Gly672Glu)
|
|
|
NM_001042492.3(NF1):c.2015G>T (p.Gly672Val)
|
rs371817372
|
|
NM_001042492.3(NF1):c.2018G>A (p.Cys673Tyr)
|
rs878853872
|
|
NM_001042492.3(NF1):c.2020A>G (p.Ser674Gly)
|
rs1555613753
|
|
NM_001042492.3(NF1):c.2022C>G (p.Ser674Arg)
|
rs2230851
|
|
NM_001042492.3(NF1):c.2023G>C (p.Gly675Arg)
|
rs779546178
|
|
NM_001042492.3(NF1):c.2026A>C (p.Thr676Pro)
|
rs2067015355
|
|
NM_001042492.3(NF1):c.2027C>A (p.Thr676Asn)
|
|
|
NM_001042492.3(NF1):c.2027C>T (p.Thr676Ile)
|
rs1294581001
|
|
NM_001042492.3(NF1):c.2029C>T (p.Pro677Ser)
|
|
|
NM_001042492.3(NF1):c.202A>G (p.Met68Val)
|
|
|
NM_001042492.3(NF1):c.2030C>T (p.Pro677Leu)
|
|
|
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.2032_2034delinsACA (p.Pro678Thr)
|
rs1597712318
|
|
NM_001042492.3(NF1):c.2032_2034delinsGCA (p.Pro678Ala)
|
rs1597712318
|
|
NM_001042492.3(NF1):c.2032_2034delinsTCA (p.Pro678Ser)
|
rs1597712318
|
|
NM_001042492.3(NF1):c.2033_2034delinsTA (p.Pro678Leu)
|
rs1597712334
|
|
NM_001042492.3(NF1):c.2034_2035delinsAG (p.Ile679Val)
|
rs2067015935
|
|
NM_001042492.3(NF1):c.2035A>G (p.Ile679Val)
|
|
|
NM_001042492.3(NF1):c.2038T>C (p.Cys680Arg)
|
rs1555613775
|
|
NM_001042492.3(NF1):c.203T>C (p.Met68Thr)
|
rs779063198
|
|
NM_001042492.3(NF1):c.204+3G>C
|
|
|
NM_001042492.3(NF1):c.204+3_204+6del
|
rs1567814632
|
|
NM_001042492.3(NF1):c.204+4A>G
|
rs1555604946
|
|
NM_001042492.3(NF1):c.204+4del
|
rs1597626163
|
|
NM_001042492.3(NF1):c.204+5G>C
|
rs1131691499
|
|
NM_001042492.3(NF1):c.204+6T>G
|
rs1555604948
|
|
NM_001042492.3(NF1):c.2042G>A (p.Arg681Gln)
|
rs786201768
|
|
NM_001042492.3(NF1):c.2042G>T (p.Arg681Leu)
|
rs786201768
|
|
NM_001042492.3(NF1):c.2044C>A (p.Gln682Lys)
|
|
|
NM_001042492.3(NF1):c.2044C>G (p.Gln682Glu)
|
|
|
NM_001042492.3(NF1):c.2047G>A (p.Ala683Thr)
|
rs2151425636
|
|
NM_001042492.3(NF1):c.2048C>T (p.Ala683Val)
|
rs1284070052
|
|
NM_001042492.3(NF1):c.204G>A (p.Met68Ile)
|
rs1441153485
|
|
NM_001042492.3(NF1):c.205-11_205-6delinsGGAAAA
|
rs2065715987
|
|
NM_001042492.3(NF1):c.205-18_205-15dup
|
|
|
NM_001042492.3(NF1):c.205-9_205-8del
|
rs2143645174
|
|
NM_001042492.3(NF1):c.2050C>G (p.Gln684Glu)
|
rs2067016517
|
|
NM_001042492.3(NF1):c.2051A>C (p.Gln684Pro)
|
rs201076784
|
|
NM_001042492.3(NF1):c.2054C>A (p.Thr685Asn)
|
rs876658190
|
|
NM_001042492.3(NF1):c.2059C>G (p.Leu687Val)
|
rs1597712422
|
|
NM_001042492.3(NF1):c.205A>G (p.Arg69Gly)
|
|
|
NM_001042492.3(NF1):c.2060T>A (p.Leu687Gln)
|
|
|
NM_001042492.3(NF1):c.2062G>C (p.Glu688Gln)
|
rs1555613784
|
|
NM_001042492.3(NF1):c.2064A>T (p.Glu688Asp)
|
rs1354039315
|
|
NM_001042492.3(NF1):c.2068G>A (p.Ala690Thr)
|
|
|
NM_001042492.3(NF1):c.2068G>T (p.Ala690Ser)
|
|
|
NM_001042492.3(NF1):c.2069C>T (p.Ala690Val)
|
rs2067016932
|
|
NM_001042492.3(NF1):c.206G>T (p.Arg69Ile)
|
rs1216707810
|
|
NM_001042492.3(NF1):c.2072T>C (p.Leu691Pro)
|
rs1131691132
|
|
NM_001042492.3(NF1):c.2072delinsGGGC (p.Leu691delinsArgAla)
|
rs2067017033
|
|
NM_001042492.3(NF1):c.2075A>T (p.Tyr692Phe)
|
rs1555613792
|
|
NM_001042492.3(NF1):c.2075_2080dup (p.Tyr692_Met693dup)
|
rs2067017065
|
|
NM_001042492.3(NF1):c.2077A>C (p.Met693Leu)
|
rs1555613794
|
|
NM_001042492.3(NF1):c.2077A>G (p.Met693Val)
|
rs1555613794
|
|
NM_001042492.3(NF1):c.2078T>C (p.Met693Thr)
|
rs2067017258
|
|
NM_001042492.3(NF1):c.2079G>A (p.Met693Ile)
|
|
|
NM_001042492.3(NF1):c.2080T>C (p.Phe694Leu)
|
rs1597712476
|
|
NM_001042492.3(NF1):c.2089A>G (p.Asn697Asp)
|
rs2151425757
|
|
NM_001042492.3(NF1):c.2092C>A (p.Pro698Thr)
|
|
|
NM_001042492.3(NF1):c.2092C>G (p.Pro698Ala)
|
rs1182909595
|
|
NM_001042492.3(NF1):c.2095G>C (p.Asp699His)
|
|
|
NM_001042492.3(NF1):c.2098A>G (p.Thr700Ala)
|
rs1555613801
|
|
NM_001042492.3(NF1):c.2099C>G (p.Thr700Ser)
|
rs1446159048
|
|
NM_001042492.3(NF1):c.2099C>T (p.Thr700Ile)
|
|
|
NM_001042492.3(NF1):c.2101G>A (p.Glu701Lys)
|
rs1597712510
|
|
NM_001042492.3(NF1):c.2102A>C (p.Glu701Ala)
|
|
|
NM_001042492.3(NF1):c.2105C>T (p.Ala702Val)
|
rs2067017751
|
|
NM_001042492.3(NF1):c.2107G>A (p.Val703Ile)
|
rs876659251
|
|
NM_001042492.3(NF1):c.2110C>G (p.Leu704Val)
|
rs1597712521
|
|
NM_001042492.3(NF1):c.2111T>C (p.Leu704Pro)
|
|
|
NM_001042492.3(NF1):c.2113_2121dup (p.Met707_Ser708insValAlaMet)
|
|
|
NM_001042492.3(NF1):c.2116G>A (p.Ala706Thr)
|
rs876658232
|
|
NM_001042492.3(NF1):c.2116G>C (p.Ala706Pro)
|
|
|
NM_001042492.3(NF1):c.2116G>T (p.Ala706Ser)
|
rs876658232
|
|
NM_001042492.3(NF1):c.2117C>T (p.Ala706Val)
|
rs2151425819
|
|
NM_001042492.3(NF1):c.2119A>C (p.Met707Leu)
|
|
|
NM_001042492.3(NF1):c.2119A>G (p.Met707Val)
|
rs2151425829
|
|
NM_001042492.3(NF1):c.2120T>C (p.Met707Thr)
|
|
|
NM_001042492.3(NF1):c.2123C>T (p.Ser708Phe)
|
rs1567847493
|
|
NM_001042492.3(NF1):c.2126G>A (p.Cys709Tyr)
|
rs864622547
|
|
NM_001042492.3(NF1):c.2126G>T (p.Cys709Phe)
|
|
|
NM_001042492.3(NF1):c.2128T>G (p.Phe710Val)
|
|
|
NM_001042492.3(NF1):c.2128_2142del (p.Phe710_Cys714del)
|
|
|
NM_001042492.3(NF1):c.2131C>T (p.Arg711Cys)
|
rs1400902839
|
|
NM_001042492.3(NF1):c.2132G>C (p.Arg711Pro)
|
rs1479669686
|
|
NM_001042492.3(NF1):c.2132_2134del (p.Arg711del)
|
rs2151425862
|
|
NM_001042492.3(NF1):c.2134C>T (p.His712Tyr)
|
|
|
NM_001042492.3(NF1):c.2135A>G (p.His712Arg)
|
rs199474727
|
|
NM_001042492.3(NF1):c.2136C>A (p.His712Gln)
|
|
|
NM_001042492.3(NF1):c.2137_2145del (p.Leu713_Glu715del)
|
|
|
NM_001042492.3(NF1):c.2140T>A (p.Cys714Ser)
|
rs2067018640
|
|
NM_001042492.3(NF1):c.2141G>T (p.Cys714Phe)
|
|
|
NM_001042492.3(NF1):c.2144A>T (p.Glu715Val)
|
rs2067018762
|
|
NM_001042492.3(NF1):c.214G>A (p.Gly72Arg)
|
|
|
NM_001042492.3(NF1):c.2155A>G (p.Ile719Val)
|
|
|
NM_001042492.3(NF1):c.2158C>T (p.Arg720Trp)
|
rs759679443
|
|
NM_001042492.3(NF1):c.2159G>T (p.Arg720Leu)
|
rs1350468182
|
|
NM_001042492.3(NF1):c.215G>C (p.Gly72Ala)
|
|
|
NM_001042492.3(NF1):c.2161T>A (p.Cys721Ser)
|
rs1597712637
|
|
NM_001042492.3(NF1):c.2161T>C (p.Cys721Arg)
|
rs1597712637
|
|
NM_001042492.3(NF1):c.2162G>A (p.Cys721Tyr)
|
|
|
NM_001042492.3(NF1):c.2162G>T (p.Cys721Phe)
|
rs2067019239
|
|
NM_001042492.3(NF1):c.2164G>C (p.Gly722Arg)
|
|
|
NM_001042492.3(NF1):c.2165G>A (p.Gly722Glu)
|
rs2151425948
|
|
NM_001042492.3(NF1):c.2167G>A (p.Val723Met)
|
rs2151425958
|
|
NM_001042492.3(NF1):c.2175A>C (p.Glu725Asp)
|
|
|
NM_001042492.3(NF1):c.2176G>T (p.Val726Leu)
|
rs2067019399
|
|
NM_001042492.3(NF1):c.2177T>C (p.Val726Ala)
|
rs2151425984
|
|
NM_001042492.3(NF1):c.2180C>T (p.Ser727Leu)
|
rs2151425993
|
|
NM_001042492.3(NF1):c.2186A>C (p.His729Pro)
|
|
|
NM_001042492.3(NF1):c.2186A>T (p.His729Leu)
|
|
|
NM_001042492.3(NF1):c.2188A>C (p.Asn730His)
|
rs758893131
|
|
NM_001042492.3(NF1):c.2190C>A (p.Asn730Lys)
|
rs1176754107
|
|
NM_001042492.3(NF1):c.2196G>T (p.Leu732Phe)
|
rs2067019832
|
|
NM_001042492.3(NF1):c.2198C>A (p.Pro733His)
|
|
|
NM_001042492.3(NF1):c.2198C>T (p.Pro733Leu)
|
|
|
NM_001042492.3(NF1):c.219A>T (p.Glu73Asp)
|
rs1567816022
|
|
NM_001042492.3(NF1):c.2201_2215del (p.Asn734_Phe738del)
|
|
|
NM_001042492.3(NF1):c.2203T>C (p.Tyr735His)
|
rs1555613827
|
|
NM_001042492.3(NF1):c.2204A>C (p.Tyr735Ser)
|
|
|
NM_001042492.3(NF1):c.2204A>G (p.Tyr735Cys)
|
|
|
NM_001042492.3(NF1):c.2206A>C (p.Asn736His)
|
rs1567847621
|
|
NM_001042492.3(NF1):c.2207A>G (p.Asn736Ser)
|
|
|
NM_001042492.3(NF1):c.220G>C (p.Ala74Pro)
|
|
|
NM_001042492.3(NF1):c.220G>T (p.Ala74Ser)
|
rs2065716371
|
|
NM_001042492.3(NF1):c.2210C>G (p.Thr737Arg)
|
|
|
NM_001042492.3(NF1):c.2210C>T (p.Thr737Ile)
|
|
|
NM_001042492.3(NF1):c.2212T>A (p.Phe738Ile)
|
|
|
NM_001042492.3(NF1):c.2212T>C (p.Phe738Leu)
|
rs2151426076
|
|
NM_001042492.3(NF1):c.2215A>G (p.Met739Val)
|
|
|
NM_001042492.3(NF1):c.2219A>C (p.Glu740Ala)
|
|
|
NM_001042492.3(NF1):c.221C>T (p.Ala74Val)
|
rs199474726
|
|
NM_001042492.3(NF1):c.2220G>C (p.Glu740Asp)
|
|
|
NM_001042492.3(NF1):c.2220G>T (p.Glu740Asp)
|
rs2067020397
|
|
NM_001042492.3(NF1):c.2221T>A (p.Phe741Ile)
|
rs533819802
|
|
NM_001042492.3(NF1):c.2230G>A (p.Val744Ile)
|
rs786201833
|
|
NM_001042492.3(NF1):c.2230G>C (p.Val744Leu)
|
rs786201833
|
|
NM_001042492.3(NF1):c.2233A>G (p.Ser745Gly)
|
rs786201865
|
|
NM_001042492.3(NF1):c.2236A>G (p.Asn746Asp)
|
rs2151426135
|
|
NM_001042492.3(NF1):c.2237A>G (p.Asn746Ser)
|
rs1176567641
|
|
NM_001042492.3(NF1):c.2239A>G (p.Met747Val)
|
rs1471232737
|
|
NM_001042492.3(NF1):c.223G>A (p.Ala75Thr)
|
rs1597629733
|
|
NM_001042492.3(NF1):c.2240T>C (p.Met747Thr)
|
rs2151426144
|
|
NM_001042492.3(NF1):c.2240T>G (p.Met747Arg)
|
rs2151426144
|
|
NM_001042492.3(NF1):c.2241G>A (p.Met747Ile)
|
rs1597712751
|
|
NM_001042492.3(NF1):c.2244G>A (p.Met748Ile)
|
rs786202478
|
|
NM_001042492.3(NF1):c.2248A>T (p.Thr750Ser)
|
|
|
NM_001042492.3(NF1):c.2249C>T (p.Thr750Ile)
|
|
|
NM_001042492.3(NF1):c.2249_2251+4dup
|
rs2067021029
|
|
NM_001042492.3(NF1):c.224C>G (p.Ala75Gly)
|
rs2065716538
|
|
NM_001042492.3(NF1):c.2250A>G (p.Thr750=)
|
rs876659061
|
|
NM_001042492.3(NF1):c.2251+11A>G
|
|
|
NM_001042492.3(NF1):c.2251+3A>G
|
|
|
NM_001042492.3(NF1):c.2251+4A>T
|
rs2067021300
|
|
NM_001042492.3(NF1):c.2251+5A>T
|
rs786201934
|
|
NM_001042492.3(NF1):c.2251+6T>A
|
rs2067021412
|
|
NM_001042492.3(NF1):c.2252-14_2252-6del
|
|
|
NM_001042492.3(NF1):c.2252-9T>G
|
rs1555613907
|
|
NM_001042492.3(NF1):c.2254A>G (p.Arg752Gly)
|
rs2067030463
|
|
NM_001042492.3(NF1):c.2255G>A (p.Arg752Lys)
|
rs2151426839
|
|
NM_001042492.3(NF1):c.2255G>C (p.Arg752Thr)
|
|
|
NM_001042492.3(NF1):c.2256A>T (p.Arg752Ser)
|
rs2067030522
|
|
NM_001042492.3(NF1):c.2258C>A (p.Ala753Glu)
|
|
|
NM_001042492.3(NF1):c.2258C>T (p.Ala753Val)
|
|
|
NM_001042492.3(NF1):c.2260G>A (p.Ala754Thr)
|
rs1597713272
|
|
NM_001042492.3(NF1):c.2261C>G (p.Ala754Gly)
|
rs1555613912
|
|
NM_001042492.3(NF1):c.2266C>G (p.Gln756Glu)
|
rs1567847905
|
|
NM_001042492.3(NF1):c.2267A>C (p.Gln756Pro)
|
|
|
NM_001042492.3(NF1):c.2267A>G (p.Gln756Arg)
|
rs1222770265
|
|
NM_001042492.3(NF1):c.2269A>G (p.Lys757Glu)
|
|
|
NM_001042492.3(NF1):c.2271A>T (p.Lys757Asn)
|
rs1555613916
|
|
NM_001042492.3(NF1):c.2273G>C (p.Arg758Thr)
|
rs2067030950
|
|
NM_001042492.3(NF1):c.2274A>T (p.Arg758Ser)
|
rs1597713310
|
|
NM_001042492.3(NF1):c.2275G>C (p.Val759Leu)
|
|
|
NM_001042492.3(NF1):c.2275G>T (p.Val759Leu)
|
rs978948341
|
|
NM_001042492.3(NF1):c.2276T>C (p.Val759Ala)
|
rs2067031096
|
|
NM_001042492.3(NF1):c.2276T>G (p.Val759Gly)
|
|
|
NM_001042492.3(NF1):c.2278A>G (p.Met760Val)
|
|
|
NM_001042492.3(NF1):c.2278A>T (p.Met760Leu)
|
rs1191883088
|
|
NM_001042492.3(NF1):c.2278_2286dup (p.Leu762_Leu763insMetAlaLeu)
|
|
|
NM_001042492.3(NF1):c.2281G>A (p.Ala761Thr)
|
rs786202504
|
|
NM_001042492.3(NF1):c.2281G>C (p.Ala761Pro)
|
rs786202504
|
|
NM_001042492.3(NF1):c.2287C>G (p.Leu763Val)
|
rs1597713340
|
|
NM_001042492.3(NF1):c.2290A>T (p.Arg764Trp)
|
rs2151426915
|
|
NM_001042492.3(NF1):c.2291G>A (p.Arg764Lys)
|
rs1170184937
|
|
NM_001042492.3(NF1):c.2293C>G (p.Arg765Gly)
|
rs1383770460
|
|
NM_001042492.3(NF1):c.2294G>T (p.Arg765Leu)
|
rs199474777
|
|
NM_001042492.3(NF1):c.2297T>A (p.Ile766Asn)
|
|
|
NM_001042492.3(NF1):c.2297T>C (p.Ile766Thr)
|
|
|
NM_001042492.3(NF1):c.2297T>G (p.Ile766Ser)
|
rs863224657
|
|
NM_001042492.3(NF1):c.2301G>T (p.Glu767Asp)
|
rs746127097
|
|
NM_001042492.3(NF1):c.2303A>T (p.His768Leu)
|
rs2067031890
|
|
NM_001042492.3(NF1):c.2304T>G (p.His768Gln)
|
rs1597713390
|
|
NM_001042492.3(NF1):c.2305C>T (p.Pro769Ser)
|
rs2067031963
|
|
NM_001042492.3(NF1):c.2306C>G (p.Pro769Arg)
|
rs786203543
|
|
NM_001042492.3(NF1):c.2308A>T (p.Thr770Ser)
|
|
|
NM_001042492.3(NF1):c.230A>C (p.Lys77Thr)
|
rs2065716657
|
|
NM_001042492.3(NF1):c.2312C>T (p.Ala771Val)
|
rs1555613928
|
|
NM_001042492.3(NF1):c.2320A>G (p.Thr774Ala)
|
rs2151427000
|
|
NM_001042492.3(NF1):c.2320A>T (p.Thr774Ser)
|
rs2151427000
|
|
NM_001042492.3(NF1):c.2321C>T (p.Thr774Ile)
|
rs917302286
|
|
NM_001042492.3(NF1):c.2325+3A>T
|
|
|
NM_001042492.3(NF1):c.2325+4T>C
|
rs1555613934
|
|
NM_001042492.3(NF1):c.2325+5G>T
|
rs1597713425
|
|
NM_001042492.3(NF1):c.2325+6C>A
|
rs1567847979
|
|
NM_001042492.3(NF1):c.2325+6C>T
|
rs1567847979
|
|
NM_001042492.3(NF1):c.2326-3T>G
|
rs876658946
|
|
NM_001042492.3(NF1):c.2326-5T>C
|
rs1131691086
|
|
NM_001042492.3(NF1):c.2326-5T>G
|
|
|
NM_001042492.3(NF1):c.2326G>A (p.Ala776Thr)
|
rs199474771
|
|
NM_001042492.3(NF1):c.2326G>T (p.Ala776Ser)
|
rs199474771
|
|
NM_001042492.3(NF1):c.2327C>A (p.Ala776Asp)
|
rs2067037211
|
|
NM_001042492.3(NF1):c.232_234del (p.Asn78del)
|
rs1555605367
|
|
NM_001042492.3(NF1):c.2331_2337delinsCAAAATGGGA (p.Trp777_Asp779delinsCysLysMetGly)
|
|
|
NM_001042492.3(NF1):c.2337T>G (p.Asp779Glu)
|
rs1555613989
|
|
NM_001042492.3(NF1):c.2338A>G (p.Thr780Ala)
|
rs1205746953
|
|
NM_001042492.3(NF1):c.233A>G (p.Asn78Ser)
|
rs561555410
|
|
NM_001042492.3(NF1):c.2341C>T (p.His781Tyr)
|
rs1443362216
|
|
NM_001042492.3(NF1):c.2342A>C (p.His781Pro)
|
rs199474763
|
|
NM_001042492.3(NF1):c.2342A>G (p.His781Arg)
|
rs199474763
|
|
NM_001042492.3(NF1):c.2344G>A (p.Ala782Thr)
|
rs1352143970
|
|
NM_001042492.3(NF1):c.2344G>T (p.Ala782Ser)
|
rs1352143970
|
|
NM_001042492.3(NF1):c.2345C>A (p.Ala782Glu)
|
|
|
NM_001042492.3(NF1):c.2347A>G (p.Lys783Glu)
|
|
|
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.2353G>A (p.Glu785Lys)
|
rs1597713756
|
|
NM_001042492.3(NF1):c.2355A>C (p.Glu785Asp)
|
|
|
NM_001042492.3(NF1):c.2356C>A (p.Gln786Lys)
|
rs1555613999
|
|
NM_001042492.3(NF1):c.2356C>G (p.Gln786Glu)
|
|
|
NM_001042492.3(NF1):c.2357A>G (p.Gln786Arg)
|
|
|
NM_001042492.3(NF1):c.2359G>A (p.Ala787Thr)
|
rs2067038399
|
|
NM_001042492.3(NF1):c.235T>G (p.Leu79Val)
|
rs764855221
|
|
NM_001042492.3(NF1):c.2360C>A (p.Ala787Glu)
|
|
|
NM_001042492.3(NF1):c.2360CAA[1] (p.Thr788del)
|
|
|
NM_001042492.3(NF1):c.2371A>C (p.Ile791Leu)
|
|
|
NM_001042492.3(NF1):c.2371A>G (p.Ile791Val)
|
rs2067038542
|
|
NM_001042492.3(NF1):c.2374C>T (p.Leu792Phe)
|
rs1555614005
|
|
NM_001042492.3(NF1):c.2375T>C (p.Leu792Pro)
|
rs1597713777
|
|
NM_001042492.3(NF1):c.2377A>G (p.Asn793Asp)
|
rs2067038668
|
|
NM_001042492.3(NF1):c.237A>T (p.Leu79Phe)
|
rs752208826
|
|
NM_001042492.3(NF1):c.2380T>A (p.Tyr794Asn)
|
|
|
NM_001042492.3(NF1):c.2383C>A (p.Pro795Thr)
|
|
|
NM_001042492.3(NF1):c.2384C>T (p.Pro795Leu)
|
|
|
NM_001042492.3(NF1):c.2390C>T (p.Ala797Val)
|
rs1181350360
|
|
NM_001042492.3(NF1):c.2392A>G (p.Lys798Glu)
|
rs1135402830
|
|
NM_001042492.3(NF1):c.2393A>C (p.Lys798Thr)
|
rs745498566
|
|
NM_001042492.3(NF1):c.2393A>G (p.Lys798Arg)
|
|
|
NM_001042492.3(NF1):c.2395A>G (p.Met799Val)
|
rs1060500317
|
|
NM_001042492.3(NF1):c.2395A>T (p.Met799Leu)
|
rs1060500317
|
|
NM_001042492.3(NF1):c.2396T>C (p.Met799Thr)
|
rs2067039365
|
|
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.239A>T (p.Tyr80Phe)
|
rs4795581
|
|
NM_001042492.3(NF1):c.2405G>A (p.Gly802Asp)
|
rs752404130
|
|
NM_001042492.3(NF1):c.2406C>T (p.Gly802=)
|
rs2151427624
|
|
NM_001042492.3(NF1):c.2407C>G (p.Gln803Glu)
|
|
|
NM_001042492.3(NF1):c.2408A>C (p.Gln803Pro)
|
|
|
NM_001042492.3(NF1):c.2408A>G (p.Gln803Arg)
|
rs786202976
|
|
NM_001042492.3(NF1):c.2409+15T>C
|
rs2067039946
|
|
NM_001042492.3(NF1):c.2409+3A>G
|
|
|
NM_001042492.3(NF1):c.2409+4A>G
|
rs536864173
|
|
NM_001042492.3(NF1):c.2409+4del
|
|
|
NM_001042492.3(NF1):c.2409+5G>C
|
rs763688567
|
|
NM_001042492.3(NF1):c.2409G>A (p.Gln803=)
|
|
|
NM_001042492.3(NF1):c.2410-12T>C
|
rs876657932
|
|
NM_001042492.3(NF1):c.2410-13A>G
|
rs1567848711
|
|
NM_001042492.3(NF1):c.2410-3T>C
|
|
|
NM_001042492.3(NF1):c.2410-3T>G
|
rs1450743199
|
|
NM_001042492.3(NF1):c.2410-5T>A
|
rs2151428754
|
|
NM_001042492.3(NF1):c.2410-9T>G
|
|
|
NM_001042492.3(NF1):c.2410G>C (p.Ala804Pro)
|
rs761109477
|
|
NM_001042492.3(NF1):c.2411C>T (p.Ala804Val)
|
|
|
NM_001042492.3(NF1):c.2412T>A (p.Ala804=)
|
|
|
NM_001042492.3(NF1):c.2413G>A (p.Ala805Thr)
|
rs2067064287
|
|
NM_001042492.3(NF1):c.2414C>T (p.Ala805Val)
|
|
|
NM_001042492.3(NF1):c.2416G>A (p.Glu806Lys)
|
|
|
NM_001042492.3(NF1):c.241C>A (p.Leu81Ile)
|
rs587782772
|
|
NM_001042492.3(NF1):c.241C>T (p.Leu81Phe)
|
|
|
NM_001042492.3(NF1):c.2420G>A (p.Ser807Asn)
|
rs1597715090
|
|
NM_001042492.3(NF1):c.2421C>G (p.Ser807Arg)
|
|
|
NM_001042492.3(NF1):c.2422C>T (p.Leu808Phe)
|
rs2067064463
|
|
NM_001042492.3(NF1):c.2426A>C (p.His809Pro)
|
rs2151428826
|
|
NM_001042492.3(NF1):c.2428A>G (p.Lys810Glu)
|
rs2151428832
|
|
NM_001042492.3(NF1):c.242T>C (p.Leu81Pro)
|
rs2143646000
|
|
NM_001042492.3(NF1):c.2431A>G (p.Thr811Ala)
|
|
|
NM_001042492.3(NF1):c.2434A>G (p.Ile812Val)
|
rs587781899
|
|
NM_001042492.3(NF1):c.2437G>A (p.Val813Ile)
|
rs878853876
|
|
NM_001042492.3(NF1):c.2440A>G (p.Lys814Glu)
|
rs1555614184
|
|
NM_001042492.3(NF1):c.2441A>C (p.Lys814Thr)
|
rs1555614185
|
|
NM_001042492.3(NF1):c.2441A>T (p.Lys814Met)
|
rs1555614185
|
|
NM_001042492.3(NF1):c.2443A>G (p.Arg815Gly)
|
|
|
NM_001042492.3(NF1):c.2444G>A (p.Arg815Lys)
|
rs1597715123
|
|
NM_001042492.3(NF1):c.2445G>C (p.Arg815Ser)
|
|
|
NM_001042492.3(NF1):c.2446C>G (p.Arg816Gly)
|
|
|
NM_001042492.3(NF1):c.2447G>C (p.Arg816Pro)
|
rs762709897
|
|
NM_001042492.3(NF1):c.2449A>G (p.Met817Val)
|
rs2151428887
|
|
NM_001042492.3(NF1):c.2450T>C (p.Met817Thr)
|
rs1597715147
|
|
NM_001042492.3(NF1):c.2455C>T (p.His819Tyr)
|
rs1597715162
|
|
NM_001042492.3(NF1):c.2456A>C (p.His819Pro)
|
rs786202297
|
|
NM_001042492.3(NF1):c.2456A>G (p.His819Arg)
|
rs786202297
|
|
NM_001042492.3(NF1):c.245C>T (p.Ser82Phe)
|
rs199474729
|
|
NM_001042492.3(NF1):c.2462G>A (p.Ser821Asn)
|
rs1303972238
|
|
NM_001042492.3(NF1):c.2462G>T (p.Ser821Ile)
|
rs1303972238
|
|
NM_001042492.3(NF1):c.2464G>A (p.Gly822Arg)
|
rs2067065463
|
|
NM_001042492.3(NF1):c.2464GGA[2] (p.Gly824del)
|
|
|
NM_001042492.3(NF1):c.2467G>A (p.Gly823Arg)
|
rs1597715196
|
|
NM_001042492.3(NF1):c.2468G>A (p.Gly823Glu)
|
rs1060500267
|
|
NM_001042492.3(NF1):c.2468G>T (p.Gly823Val)
|
rs1060500267
|
|
NM_001042492.3(NF1):c.2470G>A (p.Gly824Arg)
|
rs2067065609
|
|
NM_001042492.3(NF1):c.2471G>A (p.Gly824Glu)
|
rs2067065647
|
|
NM_001042492.3(NF1):c.2471G>T (p.Gly824Val)
|
rs2067065647
|
|
NM_001042492.3(NF1):c.2473T>G (p.Ser825Ala)
|
|
|
NM_001042492.3(NF1):c.2474C>G (p.Ser825Cys)
|
rs1060500314
|
|
NM_001042492.3(NF1):c.2476A>G (p.Ile826Val)
|
rs767069721
|
|
NM_001042492.3(NF1):c.2477T>C (p.Ile826Thr)
|
|
|
NM_001042492.3(NF1):c.2479G>A (p.Asp827Asn)
|
rs1597715215
|
|
NM_001042492.3(NF1):c.247C>A (p.Gln83Lys)
|
|
|
NM_001042492.3(NF1):c.2482T>G (p.Leu828Val)
|
|
|
NM_001042492.3(NF1):c.2485T>G (p.Ser829Ala)
|
rs1555614202
|
|
NM_001042492.3(NF1):c.2486C>G (p.Ser829Cys)
|
|
|
NM_001042492.3(NF1):c.2486C>T (p.Ser829Phe)
|
rs1567848794
|
|
NM_001042492.3(NF1):c.2488G>C (p.Asp830His)
|
rs2151428966
|
|
NM_001042492.3(NF1):c.248A>G (p.Gln83Arg)
|
rs1060500360
|
|
NM_001042492.3(NF1):c.2491A>G (p.Thr831Ala)
|
rs1555614204
|
|
NM_001042492.3(NF1):c.2492C>T (p.Thr831Ile)
|
|
|
NM_001042492.3(NF1):c.2492_2493delinsAATCT (p.Thr831delinsLysSer)
|
rs1597715231
|
|
NM_001042492.3(NF1):c.2495A>G (p.Asp832Gly)
|
rs1060500283
|
|
NM_001042492.3(NF1):c.2497T>C (p.Ser833Pro)
|
|
|
NM_001042492.3(NF1):c.2498C>A (p.Ser833Tyr)
|
|
|
NM_001042492.3(NF1):c.2498C>T (p.Ser833Phe)
|
rs2067066207
|
|
NM_001042492.3(NF1):c.249G>C (p.Gln83His)
|
|
|
NM_001042492.3(NF1):c.2500C>G (p.Leu834Val)
|
|
|
NM_001042492.3(NF1):c.250T>G (p.Leu84Val)
|
|
|
NM_001042492.3(NF1):c.2512A>G (p.Ile838Val)
|
rs1555614212
|
|
NM_001042492.3(NF1):c.2512A>T (p.Ile838Phe)
|
rs1555614212
|
|
NM_001042492.3(NF1):c.2513T>C (p.Ile838Thr)
|
rs1484277979
|
|
NM_001042492.3(NF1):c.2514C>G (p.Ile838Met)
|
rs863224352
|
|
NM_001042492.3(NF1):c.2516A>T (p.Asn839Ile)
|
rs1567848834
|
|
NM_001042492.3(NF1):c.2517C>A (p.Asn839Lys)
|
rs876659543
|
|
NM_001042492.3(NF1):c.2517C>G (p.Asn839Lys)
|
|
|
NM_001042492.3(NF1):c.2518A>C (p.Met840Leu)
|
rs779931789
|
|
NM_001042492.3(NF1):c.2518A>G (p.Met840Val)
|
rs779931789
|
|
NM_001042492.3(NF1):c.2520G>A (p.Met840Ile)
|
|
|
NM_001042492.3(NF1):c.2521A>G (p.Thr841Ala)
|
|
|
NM_001042492.3(NF1):c.2523_2524insAAG (p.Thr841_Gly842insLys)
|
rs1555614222
|
|
NM_001042492.3(NF1):c.2524G>A (p.Gly842Ser)
|
|
|
NM_001042492.3(NF1):c.2525G>A (p.Gly842Asp)
|
rs1597715290
|
|
NM_001042492.3(NF1):c.2525G>C (p.Gly842Ala)
|
|
|
NM_001042492.3(NF1):c.2525G>T (p.Gly842Val)
|
|
|
NM_001042492.3(NF1):c.2527T>G (p.Phe843Val)
|
rs2151429055
|
|
NM_001042492.3(NF1):c.2527_2528delinsGA (p.Phe843Asp)
|
|
|
NM_001042492.3(NF1):c.2528T>A (p.Phe843Tyr)
|
|
|
NM_001042492.3(NF1):c.252G>T (p.Leu84Phe)
|
rs1597629835
|
|
NM_001042492.3(NF1):c.2535T>G (p.Cys845Trp)
|
rs2151429076
|
|
NM_001042492.3(NF1):c.2536G>A (p.Ala846Thr)
|
rs1555614226
|
|
NM_001042492.3(NF1):c.2539C>G (p.Leu847Val)
|
rs753552408
|
|
NM_001042492.3(NF1):c.2539C>T (p.Leu847Phe)
|
rs753552408
|
|
NM_001042492.3(NF1):c.253_261del (p.Ile85_Leu87del)
|
rs2065717507
|
|
NM_001042492.3(NF1):c.2548G>A (p.Val850Met)
|
rs2151429112
|
|
NM_001042492.3(NF1):c.2549T>C (p.Val850Ala)
|
rs1424956205
|
|
NM_001042492.3(NF1):c.2552G>T (p.Cys851Phe)
|
rs2067067965
|
|
NM_001042492.3(NF1):c.2554C>T (p.Leu852Phe)
|
rs747579293
|
|
NM_001042492.3(NF1):c.2555T>C (p.Leu852Pro)
|
|
|
NM_001042492.3(NF1):c.2555T>G (p.Leu852Arg)
|
rs876659440
|
|
NM_001042492.3(NF1):c.2559G>T (p.Gln853His)
|
|
|
NM_001042492.3(NF1):c.2561A>G (p.Gln854Arg)
|
rs2151429134
|
|
NM_001042492.3(NF1):c.2564G>A (p.Arg855Lys)
|
|
|
NM_001042492.3(NF1):c.2565A>C (p.Arg855Ser)
|
rs2067068283
|
|
NM_001042492.3(NF1):c.2567G>A (p.Ser856Asn)
|
rs2151429147
|
|
NM_001042492.3(NF1):c.2567G>C (p.Ser856Thr)
|
rs2151429147
|
|
NM_001042492.3(NF1):c.2569A>C (p.Asn857His)
|
rs1060500259
|
|
NM_001042492.3(NF1):c.2569A>G (p.Asn857Asp)
|
|
|
NM_001042492.3(NF1):c.256A>C (p.Ile86Leu)
|
|
|
NM_001042492.3(NF1):c.2572T>C (p.Ser858Pro)
|
rs587778550
|
|
NM_001042492.3(NF1):c.2573C>T (p.Ser858Phe)
|
|
|
NM_001042492.3(NF1):c.2576G>A (p.Gly859Asp)
|
|
|
NM_001042492.3(NF1):c.2578C>G (p.Leu860Val)
|
rs1597715404
|
|
NM_001042492.3(NF1):c.2581G>A (p.Ala861Thr)
|
rs768425956
|
|
NM_001042492.3(NF1):c.2582C>A (p.Ala861Glu)
|
rs1555614266
|
|
NM_001042492.3(NF1):c.2584A>G (p.Thr862Ala)
|
rs1597715417
|
|
NM_001042492.3(NF1):c.2585C>T (p.Thr862Ile)
|
|
|
NM_001042492.3(NF1):c.2588A>G (p.Tyr863Cys)
|
rs1344682851
|
|
NM_001042492.3(NF1):c.258A>G (p.Ile86Met)
|
rs2143646253
|
|
NM_001042492.3(NF1):c.2594C>T (p.Pro865Leu)
|
rs786203084
|
|
NM_001042492.3(NF1):c.2596C>T (p.Pro866Ser)
|
rs1555614272
|
|
NM_001042492.3(NF1):c.2599A>G (p.Met867Val)
|
rs864622715
|
|
NM_001042492.3(NF1):c.259T>G (p.Leu87Val)
|
|
|
NM_001042492.3(NF1):c.2606C>T (p.Pro869Leu)
|
rs878853878
|
|
NM_001042492.3(NF1):c.2608G>C (p.Val870Leu)
|
|
|
NM_001042492.3(NF1):c.2608G>T (p.Val870Phe)
|
|
|
NM_001042492.3(NF1):c.2611A>G (p.Ser871Gly)
|
rs2067069318
|
|
NM_001042492.3(NF1):c.2614G>A (p.Glu872Lys)
|
|
|
NM_001042492.3(NF1):c.2615A>G (p.Glu872Gly)
|
|
|
NM_001042492.3(NF1):c.2617C>A (p.Arg873Ser)
|
|
|
NM_001042492.3(NF1):c.2618G>C (p.Arg873Pro)
|
rs949092641
|
|
NM_001042492.3(NF1):c.2618G>T (p.Arg873Leu)
|
rs949092641
|
|
NM_001042492.3(NF1):c.261G>C (p.Leu87Phe)
|
rs876658691
|
|
NM_001042492.3(NF1):c.2623G>A (p.Gly875Ser)
|
rs754734571
|
|
NM_001042492.3(NF1):c.2623G>C (p.Gly875Arg)
|
rs754734571
|
|
NM_001042492.3(NF1):c.2623G>T (p.Gly875Cys)
|
rs754734571
|
|
NM_001042492.3(NF1):c.2624G>A (p.Gly875Asp)
|
|
|
NM_001042492.3(NF1):c.262G>C (p.Asp88His)
|
rs2065717750
|
|
NM_001042492.3(NF1):c.262G>T (p.Asp88Tyr)
|
|
|
NM_001042492.3(NF1):c.2630T>A (p.Met877Lys)
|
rs2151429296
|
|
NM_001042492.3(NF1):c.2630T>C (p.Met877Thr)
|
rs2151429296
|
|
NM_001042492.3(NF1):c.2631G>T (p.Met877Ile)
|
rs1597715515
|
|
NM_001042492.3(NF1):c.2633T>G (p.Ile878Ser)
|
|
|
NM_001042492.3(NF1):c.2635T>G (p.Ser879Ala)
|
|
|
NM_001042492.3(NF1):c.2636C>T (p.Ser879Leu)
|
rs2151429314
|
|
NM_001042492.3(NF1):c.2638G>A (p.Val880Met)
|
rs1156571421
|
|
NM_001042492.3(NF1):c.263A>G (p.Asp88Gly)
|
rs2143646326
|
|
NM_001042492.3(NF1):c.2641A>G (p.Met881Val)
|
rs1060500263
|
|
NM_001042492.3(NF1):c.2642T>C (p.Met881Thr)
|
rs777868654
|
|
NM_001042492.3(NF1):c.2647T>C (p.Ser883Pro)
|
rs2151429342
|
|
NM_001042492.3(NF1):c.2648C>T (p.Ser883Leu)
|
rs2151429346
|
|
NM_001042492.3(NF1):c.2652G>T (p.Glu884Asp)
|
rs757843283
|
|
NM_001042492.3(NF1):c.2653G>A (p.Gly885Arg)
|
rs1060500272
|
|
NM_001042492.3(NF1):c.2654G>C (p.Gly885Ala)
|
|
|
NM_001042492.3(NF1):c.2657A>G (p.Asn886Ser)
|
|
|
NM_001042492.3(NF1):c.2658C>A (p.Asn886Lys)
|
|
|
NM_001042492.3(NF1):c.2658C>G (p.Asn886Lys)
|
rs781549970
|
|
NM_001042492.3(NF1):c.265A>G (p.Thr89Ala)
|
|
|
NM_001042492.3(NF1):c.2660C>G (p.Ala887Gly)
|
|
|
NM_001042492.3(NF1):c.2660C>T (p.Ala887Val)
|
rs1567849029
|
|
NM_001042492.3(NF1):c.2662G>C (p.Asp888His)
|
|
|
NM_001042492.3(NF1):c.2663A>G (p.Asp888Gly)
|
|
|
NM_001042492.3(NF1):c.2665A>G (p.Thr889Ala)
|
rs1314766383
|
|
NM_001042492.3(NF1):c.2666C>A (p.Thr889Lys)
|
|
|
NM_001042492.3(NF1):c.2666C>T (p.Thr889Ile)
|
|
|
NM_001042492.3(NF1):c.2668C>A (p.Pro890Thr)
|
rs771012891
|
|
NM_001042492.3(NF1):c.2668C>T (p.Pro890Ser)
|
rs771012891
|
|
NM_001042492.3(NF1):c.266C>A (p.Thr89Lys)
|
rs1555605392
|
|
NM_001042492.3(NF1):c.2671G>A (p.Val891Ile)
|
rs1060500256
|
|
NM_001042492.3(NF1):c.2671G>C (p.Val891Leu)
|
rs1060500256
|
|
NM_001042492.3(NF1):c.2674A>C (p.Ser892Arg)
|
|
|
NM_001042492.3(NF1):c.2674A>T (p.Ser892Cys)
|
rs746324091
|
|
NM_001042492.3(NF1):c.2677A>C (p.Lys893Gln)
|
rs2151429419
|
|
NM_001042492.3(NF1):c.2678A>G (p.Lys893Arg)
|
rs1597715604
|
|
NM_001042492.3(NF1):c.2681T>G (p.Phe894Cys)
|
|
|
NM_001042492.3(NF1):c.2683A>G (p.Met895Val)
|
rs876659129
|
|
NM_001042492.3(NF1):c.2684T>G (p.Met895Arg)
|
rs1555614301
|
|
NM_001042492.3(NF1):c.2685_2686delinsTA (p.Met895_Asp896delinsIleAsn)
|
rs2151429433
|
|
NM_001042492.3(NF1):c.2686G>T (p.Asp896Tyr)
|
rs1189816828
|
|
NM_001042492.3(NF1):c.268C>A (p.Leu90Met)
|
|
|
NM_001042492.3(NF1):c.2690G>C (p.Arg897Pro)
|
rs863224658
|
|
NM_001042492.3(NF1):c.2698T>A (p.Ser900Thr)
|
|
|
NM_001042492.3(NF1):c.2699C>T (p.Ser900Phe)
|
|
|
NM_001042492.3(NF1):c.269T>G (p.Leu90Arg)
|
rs1555605393
|
|
NM_001042492.3(NF1):c.2705T>C (p.Met902Thr)
|
|
|
NM_001042492.3(NF1):c.2705T>G (p.Met902Arg)
|
rs1353007349
|
|
NM_001042492.3(NF1):c.2706G>A (p.Met902Ile)
|
rs2067071823
|
|
NM_001042492.3(NF1):c.2707G>C (p.Val903Leu)
|
|
|
NM_001042492.3(NF1):c.270G>A (p.Leu90=)
|
rs2065717955
|
|
NM_001042492.3(NF1):c.270G>C (p.Leu90=)
|
rs2065717955
|
|
NM_001042492.3(NF1):c.2711G>A (p.Cys904Tyr)
|
|
|
NM_001042492.3(NF1):c.2711G>C (p.Cys904Ser)
|
rs2151429496
|
|
NM_001042492.3(NF1):c.2714A>G (p.Asn905Ser)
|
|
|
NM_001042492.3(NF1):c.2716C>T (p.His906Tyr)
|
|
|
NM_001042492.3(NF1):c.2718T>A (p.His906Gln)
|
rs2067072074
|
|
NM_001042492.3(NF1):c.2722A>G (p.Lys908Glu)
|
|
|
NM_001042492.3(NF1):c.2725G>A (p.Val909Met)
|
|
|
NM_001042492.3(NF1):c.2725G>T (p.Val909Leu)
|
rs1567849105
|
|
NM_001042492.3(NF1):c.2726T>C (p.Val909Ala)
|
|
|
NM_001042492.3(NF1):c.2727G>A (p.Val909=)
|
rs2151429530
|
|
NM_001042492.3(NF1):c.2728G>A (p.Gly910Arg)
|
rs1555614314
|
|
NM_001042492.3(NF1):c.2728G>C (p.Gly910Arg)
|
|
|
NM_001042492.3(NF1):c.2729G>A (p.Gly910Glu)
|
|
|
NM_001042492.3(NF1):c.2732T>A (p.Leu911His)
|
rs1555614315
|
|
NM_001042492.3(NF1):c.2737A>G (p.Ile913Val)
|
|
|
NM_001042492.3(NF1):c.2739A>G (p.Ile913Met)
|
rs2151429561
|
|
NM_001042492.3(NF1):c.2746A>G (p.Asn916Asp)
|
rs2067072617
|
|
NM_001042492.3(NF1):c.2747A>T (p.Asn916Ile)
|
rs765043916
|
|
NM_001042492.3(NF1):c.274A>G (p.Lys92Glu)
|
rs1555605396
|
|
NM_001042492.3(NF1):c.2752A>G (p.Lys918Glu)
|
|
|
NM_001042492.3(NF1):c.2753A>G (p.Lys918Arg)
|
|
|
NM_001042492.3(NF1):c.2755G>A (p.Asp919Asn)
|
rs1597715708
|
|
NM_001042492.3(NF1):c.2755G>T (p.Asp919Tyr)
|
rs1597715708
|
|
NM_001042492.3(NF1):c.2757T>A (p.Asp919Glu)
|
rs1131691110
|
|
NM_001042492.3(NF1):c.2758C>A (p.Leu920Met)
|
|
|
NM_001042492.3(NF1):c.2758C>G (p.Leu920Val)
|
rs2151429594
|
|
NM_001042492.3(NF1):c.2759T>A (p.Leu920Gln)
|
rs199474775
|
|
NM_001042492.3(NF1):c.2759T>C (p.Leu920Pro)
|
rs199474775
|
|
NM_001042492.3(NF1):c.275A>G (p.Lys92Arg)
|
rs2065718099
|
|
NM_001042492.3(NF1):c.2761G>A (p.Val921Met)
|
rs567023433
|
|
NM_001042492.3(NF1):c.2761G>T (p.Val921Leu)
|
|
|
NM_001042492.3(NF1):c.2763G>A (p.Val921=)
|
rs1597715725
|
|
NM_001042492.3(NF1):c.2764G>A (p.Gly922Ser)
|
rs1135402831
|
|
NM_001042492.3(NF1):c.2765G>C (p.Gly922Ala)
|
|
|
NM_001042492.3(NF1):c.2767C>A (p.Leu923Ile)
|
rs1567849138
|
|
NM_001042492.3(NF1):c.2767C>G (p.Leu923Val)
|
|
|
NM_001042492.3(NF1):c.276A>T (p.Lys92Asn)
|
rs1060503900
|
|
NM_001042492.3(NF1):c.2772A>C (p.Glu924Asp)
|
rs2151429630
|
|
NM_001042492.3(NF1):c.2782G>A (p.Ala928Thr)
|
rs1277935019
|
|
NM_001042492.3(NF1):c.2782G>T (p.Ala928Ser)
|
|
|
NM_001042492.3(NF1):c.2783C>T (p.Ala928Val)
|
rs2067073386
|
|
NM_001042492.3(NF1):c.2791C>G (p.Pro931Ala)
|
rs764290369
|
|
NM_001042492.3(NF1):c.2794A>C (p.Met932Leu)
|
rs886052800
|
|
NM_001042492.3(NF1):c.2794A>T (p.Met932Leu)
|
rs886052800
|
|
NM_001042492.3(NF1):c.2798T>C (p.Leu933Pro)
|
rs1555614342
|
|
NM_001042492.3(NF1):c.2800_2802del (p.Phe934del)
|
rs1567849174
|
|
NM_001042492.3(NF1):c.2806A>G (p.Lys936Glu)
|
rs1555614345
|
|
NM_001042492.3(NF1):c.2810T>G (p.Leu937Trp)
|
rs1567849184
|
|
NM_001042492.3(NF1):c.2811GAA[1] (p.Lys938del)
|
rs2151429739
|
|
NM_001042492.3(NF1):c.2812A>G (p.Lys938Glu)
|
rs2067074174
|
|
NM_001042492.3(NF1):c.2815A>G (p.Asn939Asp)
|
|
|
NM_001042492.3(NF1):c.2817T>A (p.Asn939Lys)
|
rs2151429754
|
|
NM_001042492.3(NF1):c.2818A>G (p.Thr940Ala)
|
rs1443857560
|
|
NM_001042492.3(NF1):c.281T>C (p.Leu94Pro)
|
rs1597629884
|
|
NM_001042492.3(NF1):c.281T>G (p.Leu94Arg)
|
rs1597629884
|
|
NM_001042492.3(NF1):c.2821A>T (p.Ile941Phe)
|
|
|
NM_001042492.3(NF1):c.2822T>C (p.Ile941Thr)
|
rs2067074387
|
|
NM_001042492.3(NF1):c.2824A>C (p.Ser942Arg)
|
rs2151429775
|
|
NM_001042492.3(NF1):c.2825G>C (p.Ser942Thr)
|
rs1555614350
|
|
NM_001042492.3(NF1):c.2826C>G (p.Ser942Arg)
|
rs2151429785
|
|
NM_001042492.3(NF1):c.2826C>T (p.Ser942=)
|
|
|
NM_001042492.3(NF1):c.2827A>G (p.Lys943Glu)
|
rs1567849199
|
|
NM_001042492.3(NF1):c.2831T>A (p.Phe944Tyr)
|
|
|
NM_001042492.3(NF1):c.2837A>G (p.Asp946Gly)
|
rs2067074650
|
|
NM_001042492.3(NF1):c.2839T>A (p.Ser947Thr)
|
rs1567849219
|
|
NM_001042492.3(NF1):c.2840C>G (p.Ser947Cys)
|
rs878853879
|
|
NM_001042492.3(NF1):c.2843A>T (p.Gln948Leu)
|
|
|
NM_001042492.3(NF1):c.2844A>G (p.Gln948=)
|
|
|
NM_001042492.3(NF1):c.2846G>A (p.Gly949Glu)
|
|
|
NM_001042492.3(NF1):c.2848C>G (p.Gln950Glu)
|
|
|
NM_001042492.3(NF1):c.284C>A (p.Ala95Asp)
|
|
|
NM_001042492.3(NF1):c.284C>G (p.Ala95Gly)
|
rs1567816119
|
|
NM_001042492.3(NF1):c.284C>T (p.Ala95Val)
|
rs1567816119
|
|
NM_001042492.3(NF1):c.2850+17T>A
|
|
|
NM_001042492.3(NF1):c.2850+2T>C
|
rs1597715880
|
|
NM_001042492.3(NF1):c.2850+5A>G
|
rs864622633
|
|
NM_001042492.3(NF1):c.2850+6G>A
|
rs756650807
|
|
NM_001042492.3(NF1):c.2850+6G>C
|
|
|
NM_001042492.3(NF1):c.2850G>T (p.Gln950His)
|
|
|
NM_001042492.3(NF1):c.2851-10C>G
|
rs1555614412
|
|
NM_001042492.3(NF1):c.2851-23_2851-7del
|
rs2067081767
|
|
NM_001042492.3(NF1):c.2851-3del
|
rs876660379
|
|
NM_001042492.3(NF1):c.2851-4T>G
|
|
|
NM_001042492.3(NF1):c.2851G>A (p.Val951Ile)
|
rs1597716277
|
|
NM_001042492.3(NF1):c.2852T>C (p.Val951Ala)
|
|
|
NM_001042492.3(NF1):c.2855_3113+154dup
|
|
|
NM_001042492.3(NF1):c.2867C>G (p.Thr956Ser)
|
rs1323973848
|
|
NM_001042492.3(NF1):c.2867C>T (p.Thr956Ile)
|
rs1323973848
|
|
NM_001042492.3(NF1):c.2869A>C (p.Asn957His)
|
|
|
NM_001042492.3(NF1):c.2869A>G (p.Asn957Asp)
|
|
|
NM_001042492.3(NF1):c.286G>T (p.Gly96Trp)
|
rs1597629902
|
|
NM_001042492.3(NF1):c.2870A>G (p.Asn957Ser)
|
|
|
NM_001042492.3(NF1):c.2877A>G (p.Gln959=)
|
rs1567849511
|
|
NM_001042492.3(NF1):c.2878T>G (p.Phe960Val)
|
|
|
NM_001042492.3(NF1):c.288+2dup
|
|
|
NM_001042492.3(NF1):c.288+3A>C
|
rs2065718699
|
|
NM_001042492.3(NF1):c.288+3A>T
|
rs2065718699
|
|
NM_001042492.3(NF1):c.288+4A>C
|
|
|
NM_001042492.3(NF1):c.288+4A>G
|
rs781459468
|
|
NM_001042492.3(NF1):c.288+4A>T
|
rs781459468
|
|
NM_001042492.3(NF1):c.288+594A>G
|
|
|
NM_001042492.3(NF1):c.288+6T>A
|
|
|
NM_001042492.3(NF1):c.288+9A>G
|
rs1567816141
|
|
NM_001042492.3(NF1):c.2882T>A (p.Val961Glu)
|
|
|
NM_001042492.3(NF1):c.2885A>G (p.Glu962Gly)
|
rs876659474
|
|
NM_001042492.3(NF1):c.2886_2897del (p.Glu962_Ala966delinsAsp)
|
rs1135402835
|
|
NM_001042492.3(NF1):c.2887C>G (p.Gln963Glu)
|
|
|
NM_001042492.3(NF1):c.2888A>C (p.Gln963Pro)
|
|
|
NM_001042492.3(NF1):c.288G>A (p.Gly96=)
|
rs1430988476
|
|
NM_001042492.3(NF1):c.289-1G>A
|
|
|
NM_001042492.3(NF1):c.289-22A>C
|
rs2143669668
|
|
NM_001042492.3(NF1):c.289-6T>C
|
rs757074803
|
|
NM_001042492.3(NF1):c.2890A>C (p.Thr964Pro)
|
|
|
NM_001042492.3(NF1):c.2891_2892delinsAG (p.Thr964Lys)
|
rs2067083355
|
|
NM_001042492.3(NF1):c.2894T>A (p.Ile965Lys)
|
rs1555614438
|
|
NM_001042492.3(NF1):c.2896G>A (p.Ala966Thr)
|
rs876658849
|
|
NM_001042492.3(NF1):c.2896G>C (p.Ala966Pro)
|
|
|
NM_001042492.3(NF1):c.2896G>T (p.Ala966Ser)
|
|
|
NM_001042492.3(NF1):c.2897C>A (p.Ala966Asp)
|
|
|
NM_001042492.3(NF1):c.2897C>G (p.Ala966Gly)
|
rs1567849533
|
|
NM_001042492.3(NF1):c.2899A>G (p.Ile967Val)
|
rs876660279
|
|
NM_001042492.3(NF1):c.2900T>C (p.Ile967Thr)
|
rs1289091384
|
|
NM_001042492.3(NF1):c.2901A>G (p.Ile967Met)
|
rs2151430624
|
|
NM_001042492.3(NF1):c.2903T>A (p.Met968Lys)
|
rs199474749
|
|
NM_001042492.3(NF1):c.2903T>C (p.Met968Thr)
|
|
|
NM_001042492.3(NF1):c.2904G>A (p.Met968Ile)
|
rs1597716342
|
|
NM_001042492.3(NF1):c.2907G>T (p.Lys969Asn)
|
|
|
NM_001042492.3(NF1):c.2908A>T (p.Asn970Tyr)
|
|
|
NM_001042492.3(NF1):c.2910C>G (p.Asn970Lys)
|
|
|
NM_001042492.3(NF1):c.2914C>A (p.Leu972Ile)
|
rs2067083880
|
|
NM_001042492.3(NF1):c.2915T>A (p.Leu972Gln)
|
rs1597716348
|
|
NM_001042492.3(NF1):c.2915T>C (p.Leu972Pro)
|
rs1597716348
|
|
NM_001042492.3(NF1):c.2917G>A (p.Asp973Asn)
|
rs2151430652
|
|
NM_001042492.3(NF1):c.2918A>G (p.Asp973Gly)
|
|
|
NM_001042492.3(NF1):c.291A>G (p.Gln97=)
|
rs1555606044
|
|
NM_001042492.3(NF1):c.2921A>G (p.Asn974Ser)
|
rs557875547
|
|
NM_001042492.3(NF1):c.2923C>A (p.His975Asn)
|
rs2151430673
|
|
NM_001042492.3(NF1):c.2923C>T (p.His975Tyr)
|
|
|
NM_001042492.3(NF1):c.2924A>G (p.His975Arg)
|
|
|
NM_001042492.3(NF1):c.2927C>G (p.Thr976Ser)
|
rs755404523
|
|
NM_001042492.3(NF1):c.292C>A (p.Pro98Thr)
|
|
|
NM_001042492.3(NF1):c.2932G>A (p.Gly978Ser)
|
rs1597716367
|
|
NM_001042492.3(NF1):c.2932G>T (p.Gly978Cys)
|
rs1597716367
|
|
NM_001042492.3(NF1):c.2933G>A (p.Gly978Asp)
|
rs1597716371
|
|
NM_001042492.3(NF1):c.2935A>G (p.Ser979Gly)
|
rs2067084249
|
|
NM_001042492.3(NF1):c.2936G>A (p.Ser979Asn)
|
rs2151430704
|
|
NM_001042492.3(NF1):c.2939C>T (p.Ser980Phe)
|
rs2067084275
|
|
NM_001042492.3(NF1):c.293C>A (p.Pro98Gln)
|
rs780979519
|
|
NM_001042492.3(NF1):c.293C>G (p.Pro98Arg)
|
|
|
NM_001042492.3(NF1):c.293C>T (p.Pro98Leu)
|
|
|
NM_001042492.3(NF1):c.2941G>C (p.Glu981Gln)
|
rs1555614449
|
|
NM_001042492.3(NF1):c.2942A>G (p.Glu981Gly)
|
rs2067084366
|
|
NM_001042492.3(NF1):c.2948T>C (p.Leu983Pro)
|
|
|
NM_001042492.3(NF1):c.2951G>A (p.Gly984Glu)
|
|
|
NM_001042492.3(NF1):c.2954A>T (p.Gln985Leu)
|
rs1567849565
|
|
NM_001042492.3(NF1):c.2956_2967del (p.Ala986_Glu989del)
|
|
|
NM_001042492.3(NF1):c.2957C>T (p.Ala986Val)
|
rs876659417
|
|
NM_001042492.3(NF1):c.295A>C (p.Lys99Gln)
|
|
|
NM_001042492.3(NF1):c.295A>G (p.Lys99Glu)
|
|
|
NM_001042492.3(NF1):c.2960G>A (p.Ser987Asn)
|
rs1060500329
|
|
NM_001042492.3(NF1):c.2962A>G (p.Ile988Val)
|
rs587781936
|
|
NM_001042492.3(NF1):c.2972T>C (p.Met991Thr)
|
rs1060500298
|
|
NM_001042492.3(NF1):c.2973G>T (p.Met991Ile)
|
|
|
NM_001042492.3(NF1):c.2975T>C (p.Met992Thr)
|
rs1567849596
|
|
NM_001042492.3(NF1):c.2980A>T (p.Asn994Tyr)
|
rs2067085170
|
|
NM_001042492.3(NF1):c.2981A>G (p.Asn994Ser)
|
rs2067085209
|
|
NM_001042492.3(NF1):c.2984T>C (p.Leu995Pro)
|
rs1597716466
|
|
NM_001042492.3(NF1):c.2984T>G (p.Leu995Arg)
|
rs1597716466
|
|
NM_001042492.3(NF1):c.2985G>A (p.Leu995=)
|
rs17881467
|
|
NM_001042492.3(NF1):c.2986G>T (p.Val996Phe)
|
rs2151430840
|
|
NM_001042492.3(NF1):c.2987T>A (p.Val996Asp)
|
|
|
NM_001042492.3(NF1):c.2989A>G (p.Arg997Gly)
|
rs2067085335
|
|
NM_001042492.3(NF1):c.2989A>T (p.Arg997Trp)
|
rs2067085335
|
|
NM_001042492.3(NF1):c.298G>A (p.Asp100Asn)
|
|
|
NM_001042492.3(NF1):c.2990+3A>T
|
rs1597716487
|
|
NM_001042492.3(NF1):c.2992T>A (p.Tyr998Asn)
|
|
|
NM_001042492.3(NF1):c.2992T>C (p.Tyr998His)
|
|
|
NM_001042492.3(NF1):c.2992T>G (p.Tyr998Asp)
|
|
|
NM_001042492.3(NF1):c.2993A>C (p.Tyr998Ser)
|
rs1555614496
|
|
NM_001042492.3(NF1):c.2993A>G (p.Tyr998Cys)
|
rs1555614496
|
|
NM_001042492.3(NF1):c.2993A>T (p.Tyr998Phe)
|
|
|
NM_001042492.3(NF1):c.2998C>G (p.Arg1000Gly)
|
|
|
NM_001042492.3(NF1):c.2999G>C (p.Arg1000Pro)
|
rs753082620
|
|
NM_001042492.3(NF1):c.2999G>T (p.Arg1000Leu)
|
rs753082620
|
|
NM_001042492.3(NF1):c.3004C>G (p.Leu1002Val)
|
rs2151431496
|
|
NM_001042492.3(NF1):c.3008G>A (p.Gly1003Glu)
|
rs2151431510
|
|
NM_001042492.3(NF1):c.3014T>C (p.Met1005Thr)
|
rs1555614504
|
|
NM_001042492.3(NF1):c.3016G>A (p.Val1006Ile)
|
rs1060500383
|
|
NM_001042492.3(NF1):c.3016G>T (p.Val1006Phe)
|
rs1060500383
|
|
NM_001042492.3(NF1):c.3017T>C (p.Val1006Ala)
|
rs755636107
|
|
NM_001042492.3(NF1):c.3017T>G (p.Val1006Gly)
|
|
|
NM_001042492.3(NF1):c.3019C>T (p.His1007Tyr)
|
|
|
NM_001042492.3(NF1):c.3023C>A (p.Ala1008Glu)
|
|
|
NM_001042492.3(NF1):c.3025A>G (p.Ile1009Val)
|
rs1597716866
|
|
NM_001042492.3(NF1):c.3027T>G (p.Ile1009Met)
|
rs2151431556
|
|
NM_001042492.3(NF1):c.3028C>A (p.Gln1010Lys)
|
|
|
NM_001042492.3(NF1):c.302C>A (p.Thr101Lys)
|
|
|
NM_001042492.3(NF1):c.3030A>T (p.Gln1010His)
|
|
|
NM_001042492.3(NF1):c.3033A>G (p.Ile1011Met)
|
rs2151431575
|
|
NM_001042492.3(NF1):c.3035A>G (p.Lys1012Arg)
|
rs1597716883
|
|
NM_001042492.3(NF1):c.3036A>C (p.Lys1012Asn)
|
|
|
NM_001042492.3(NF1):c.3037A>C (p.Thr1013Pro)
|
rs1597716888
|
|
NM_001042492.3(NF1):c.3038C>G (p.Thr1013Arg)
|
rs786203132
|
|
NM_001042492.3(NF1):c.3040A>G (p.Lys1014Glu)
|
rs1135402839
|
|
NM_001042492.3(NF1):c.3051A>C (p.Gln1017His)
|
rs201891488
|
|
NM_001042492.3(NF1):c.3054A>C (p.Leu1018Phe)
|
rs1237938582
|
|
NM_001042492.3(NF1):c.3055G>A (p.Val1019Ile)
|
rs1567849826
|
|
NM_001042492.3(NF1):c.3056T>C (p.Val1019Ala)
|
rs1555614520
|
|
NM_001042492.3(NF1):c.3059A>C (p.Glu1020Ala)
|
|
|
NM_001042492.3(NF1):c.3061G>A (p.Val1021Ile)
|
|
|
NM_001042492.3(NF1):c.3061G>C (p.Val1021Leu)
|
rs1597716939
|
|
NM_001042492.3(NF1):c.3062T>C (p.Val1021Ala)
|
|
|
NM_001042492.3(NF1):c.3064A>G (p.Met1022Val)
|
rs2067092180
|
|
NM_001042492.3(NF1):c.3065T>A (p.Met1022Lys)
|
|
|
NM_001042492.3(NF1):c.3065_3073dup (p.Met1022_Ala1024dup)
|
rs1567849843
|
|
NM_001042492.3(NF1):c.3069G>A (p.Met1023Ile)
|
rs2151431668
|
|
NM_001042492.3(NF1):c.3069G>T (p.Met1023Ile)
|
|
|
NM_001042492.3(NF1):c.306G>A (p.Met102Ile)
|
rs2143670540
|
|
NM_001042492.3(NF1):c.3070G>A (p.Ala1024Thr)
|
rs786203657
|
|
NM_001042492.3(NF1):c.3070G>T (p.Ala1024Ser)
|
rs786203657
|
|
NM_001042492.3(NF1):c.3071C>T (p.Ala1024Val)
|
rs1555614525
|
|
NM_001042492.3(NF1):c.3073A>G (p.Arg1025Gly)
|
|
|
NM_001042492.3(NF1):c.3074G>A (p.Arg1025Lys)
|
rs876659876
|
|
NM_001042492.3(NF1):c.3078A>C (p.Arg1026Ser)
|
rs1597716965
|
|
NM_001042492.3(NF1):c.3080A>G (p.Asp1027Gly)
|
rs2151431688
|
|
NM_001042492.3(NF1):c.3081_3083dup (p.Asp1028_Leu1029insAsp)
|
|
|
NM_001042492.3(NF1):c.3082_3083delinsTT (p.Asp1028Phe)
|
|
|
NM_001042492.3(NF1):c.3083A>G (p.Asp1028Gly)
|
|
|
NM_001042492.3(NF1):c.3084C>A (p.Asp1028Glu)
|
|
|
NM_001042492.3(NF1):c.3085C>T (p.Leu1029Phe)
|
rs1597716976
|
|
NM_001042492.3(NF1):c.3086T>C (p.Leu1029Pro)
|
rs2067092609
|
|
NM_001042492.3(NF1):c.3086T>G (p.Leu1029Arg)
|
rs2067092609
|
|
NM_001042492.3(NF1):c.3089C>T (p.Ser1030Leu)
|
|
|
NM_001042492.3(NF1):c.308G>C (p.Arg103Thr)
|
|
|
NM_001042492.3(NF1):c.3095G>C (p.Cys1032Ser)
|
rs2151431724
|
|
NM_001042492.3(NF1):c.3097C>G (p.Gln1033Glu)
|
|
|
NM_001042492.3(NF1):c.3099A>G (p.Gln1033=)
|
rs2067092832
|
|
NM_001042492.3(NF1):c.309A>T (p.Arg103Ser)
|
rs1225112706
|
|
NM_001042492.3(NF1):c.3104T>C (p.Met1035Thr)
|
rs137854553
|
|
NM_001042492.3(NF1):c.3105G>A (p.Met1035Ile)
|
|
|
NM_001042492.3(NF1):c.3107A>C (p.Lys1036Thr)
|
rs1555614540
|
|
NM_001042492.3(NF1):c.3107A>G (p.Lys1036Arg)
|
rs1555614540
|
|
NM_001042492.3(NF1):c.3112A>T (p.Arg1038Trp)
|
rs1597717017
|
|
NM_001042492.3(NF1):c.3113+2T>C
|
rs876658997
|
|
NM_001042492.3(NF1):c.3113+4A>C
|
|
|
NM_001042492.3(NF1):c.3113G>A (p.Arg1038Lys)
|
|
|
NM_001042492.3(NF1):c.3113G>T (p.Arg1038Met)
|
rs1060500313
|
|
NM_001042492.3(NF1):c.3114-11C>G
|
rs2151432318
|
|
NM_001042492.3(NF1):c.3114-3T>C
|
rs773097190
|
|
NM_001042492.3(NF1):c.3114-4A>C
|
rs201550230
|
|
NM_001042492.3(NF1):c.3114-7T>G
|
rs754931967
|
|
NM_001042492.3(NF1):c.3114G>C (p.Arg1038Ser)
|
rs1555614616
|
|
NM_001042492.3(NF1):c.3117T>A (p.Asn1039Lys)
|
rs1597717516
|
|
NM_001042492.3(NF1):c.3117_3128dup (p.Val1042_Glu1043insAspLysMetVal)
|
|
|
NM_001042492.3(NF1):c.3118A>G (p.Lys1040Glu)
|
rs1555614619
|
|
NM_001042492.3(NF1):c.3119A>C (p.Lys1040Thr)
|
|
|
NM_001042492.3(NF1):c.3119A>G (p.Lys1040Arg)
|
rs2067101256
|
|
NM_001042492.3(NF1):c.3121A>C (p.Met1041Leu)
|
|
|
NM_001042492.3(NF1):c.3121A>G (p.Met1041Val)
|
|
|
NM_001042492.3(NF1):c.3122T>A (p.Met1041Lys)
|
rs2151432359
|
|
NM_001042492.3(NF1):c.3129A>C (p.Glu1043Asp)
|
rs1597717530
|
|
NM_001042492.3(NF1):c.3130T>A (p.Tyr1044Asn)
|
rs1597717533
|
|
NM_001042492.3(NF1):c.3130T>C (p.Tyr1044His)
|
|
|
NM_001042492.3(NF1):c.3131A>G (p.Tyr1044Cys)
|
rs747274278
|
|
NM_001042492.3(NF1):c.3134T>C (p.Leu1045Pro)
|
rs1567850142
|
|
NM_001042492.3(NF1):c.3137C>G (p.Thr1046Arg)
|
rs2151432404
|
|
NM_001042492.3(NF1):c.3140A>G (p.Asp1047Gly)
|
rs1555614631
|
|
NM_001042492.3(NF1):c.3140A>T (p.Asp1047Val)
|
rs1555614631
|
|
NM_001042492.3(NF1):c.3140_3142dup (p.Asp1047_Trp1048insTyr)
|
rs2067101647
|
|
NM_001042492.3(NF1):c.3145G>A (p.Val1049Ile)
|
rs1060500343
|
|
NM_001042492.3(NF1):c.3145G>T (p.Val1049Phe)
|
|
|
NM_001042492.3(NF1):c.3148A>G (p.Met1050Val)
|
rs2067101757
|
|
NM_001042492.3(NF1):c.3149T>A (p.Met1050Lys)
|
rs1597717585
|
|
NM_001042492.3(NF1):c.3149T>C (p.Met1050Thr)
|
|
|
NM_001042492.3(NF1):c.3150G>A (p.Met1050Ile)
|
rs1555614639
|
|
NM_001042492.3(NF1):c.3151G>A (p.Gly1051Arg)
|
|
|
NM_001042492.3(NF1):c.3154A>G (p.Thr1052Ala)
|
rs1597717598
|
|
NM_001042492.3(NF1):c.3155C>T (p.Thr1052Ile)
|
rs2067101916
|
|
NM_001042492.3(NF1):c.3157T>C (p.Ser1053Pro)
|
|
|
NM_001042492.3(NF1):c.3162C>G (p.Asn1054Lys)
|
|
|
NM_001042492.3(NF1):c.3163C>G (p.Gln1055Glu)
|
rs866069972
|
|
NM_001042492.3(NF1):c.3167C>T (p.Ala1056Val)
|
rs759655189
|
|
NM_001042492.3(NF1):c.3169G>A (p.Ala1057Thr)
|
rs1367746167
|
|
NM_001042492.3(NF1):c.3169G>T (p.Ala1057Ser)
|
rs1367746167
|
|
NM_001042492.3(NF1):c.3170C>A (p.Ala1057Glu)
|
rs2151432494
|
|
NM_001042492.3(NF1):c.3171A>G (p.Ala1057=)
|
rs2067102269
|
|
NM_001042492.3(NF1):c.3172G>A (p.Asp1058Asn)
|
rs1597717634
|
|
NM_001042492.3(NF1):c.3173A>G (p.Asp1058Gly)
|
rs1387858614
|
|
NM_001042492.3(NF1):c.3173ATG[2] (p.Asp1060del)
|
rs1597717639
|
|
NM_001042492.3(NF1):c.3173_3174delinsCA (p.Asp1058Ala)
|
rs2067102400
|
|
NM_001042492.3(NF1):c.3175G>A (p.Asp1059Asn)
|
rs765164994
|
|
NM_001042492.3(NF1):c.3176A>G (p.Asp1059Gly)
|
rs1597717658
|
|
NM_001042492.3(NF1):c.3176A>T (p.Asp1059Val)
|
rs1597717658
|
|
NM_001042492.3(NF1):c.3179A>G (p.Asp1060Gly)
|
rs1597717664
|
|
NM_001042492.3(NF1):c.3179A>T (p.Asp1060Val)
|
rs1597717664
|
|
NM_001042492.3(NF1):c.3180T>G (p.Asp1060Glu)
|
rs1555614646
|
|
NM_001042492.3(NF1):c.3182T>C (p.Val1061Ala)
|
|
|
NM_001042492.3(NF1):c.3184A>G (p.Lys1062Glu)
|
rs2151432521
|
|
NM_001042492.3(NF1):c.3185A>G (p.Lys1062Arg)
|
|
|
NM_001042492.3(NF1):c.3185A>T (p.Lys1062Ile)
|
rs1314168961
|
|
NM_001042492.3(NF1):c.3187T>C (p.Cys1063Arg)
|
rs776079267
|
|
NM_001042492.3(NF1):c.3190C>T (p.Leu1064Phe)
|
rs2067102829
|
|
NM_001042492.3(NF1):c.3191T>C (p.Leu1064Pro)
|
|
|
NM_001042492.3(NF1):c.3191T>G (p.Leu1064Arg)
|
|
|
NM_001042492.3(NF1):c.3193A>C (p.Thr1065Pro)
|
|
|
NM_001042492.3(NF1):c.3194C>A (p.Thr1065Lys)
|
rs2067102897
|
|
NM_001042492.3(NF1):c.3194C>G (p.Thr1065Arg)
|
|
|
NM_001042492.3(NF1):c.3195A>C (p.Thr1065=)
|
rs1555614650
|
|
NM_001042492.3(NF1):c.3196A>G (p.Arg1066Gly)
|
rs2067102998
|
|
NM_001042492.3(NF1):c.3197+3A>T
|
rs1359512152
|
|
NM_001042492.3(NF1):c.3197G>A (p.Arg1066Lys)
|
rs1555614652
|
|
NM_001042492.3(NF1):c.3197G>C (p.Arg1066Thr)
|
rs1555614652
|
|
NM_001042492.3(NF1):c.3197G>T (p.Arg1066Ile)
|
rs1555614652
|
|
NM_001042492.3(NF1):c.3198-312_3198-297del
|
|
|
NM_001042492.3(NF1):c.3198-330A>G
|
|
|
NM_001042492.3(NF1):c.3198-3C>A
|
rs777759972
|
|
NM_001042492.3(NF1):c.3198-4_3198-3insAT
|
rs745559136
|
|
NM_001042492.3(NF1):c.3198-4_3198-3insTTGT
|
rs745559136
|
|
NM_001042492.3(NF1):c.3198-5T>G
|
rs587782639
|
|
NM_001042492.3(NF1):c.3198-5_3198-3del
|
rs2067120967
|
|
NM_001042492.3(NF1):c.3198-7_3198-4del
|
rs371047262
|
|
NM_001042492.3(NF1):c.3198-8_3198-4del
|
rs371047262
|
|
NM_001042492.3(NF1):c.3198A>T (p.Arg1066Ser)
|
rs864622469
|
|
NM_001042492.3(NF1):c.3199G>A (p.Asp1067Asn)
|
|
|
NM_001042492.3(NF1):c.319A>G (p.Thr107Ala)
|
rs2065792343
|
|
NM_001042492.3(NF1):c.3200A>G (p.Asp1067Gly)
|
rs746785904
|
|
NM_001042492.3(NF1):c.3204G>C (p.Leu1068Phe)
|
rs1258842007
|
|
NM_001042492.3(NF1):c.3209A>G (p.Gln1070Arg)
|
rs2151433679
|
|
NM_001042492.3(NF1):c.320C>G (p.Thr107Arg)
|
rs1567817857
|
|
NM_001042492.3(NF1):c.320C>T (p.Thr107Met)
|
rs1567817857
|
|
NM_001042492.3(NF1):c.3210_3212dup (p.Ala1071_Ser1072insAla)
|
|
|
NM_001042492.3(NF1):c.3211G>A (p.Ala1071Thr)
|
|
|
NM_001042492.3(NF1):c.3212C>A (p.Ala1071Glu)
|
|
|
NM_001042492.3(NF1):c.3213A>G (p.Ala1071=)
|
rs786202077
|
|
NM_001042492.3(NF1):c.3215G>A (p.Ser1072Asn)
|
rs1597718741
|
|
NM_001042492.3(NF1):c.3216C>A (p.Ser1072Arg)
|
rs1567850647
|
|
NM_001042492.3(NF1):c.3216C>G (p.Ser1072Arg)
|
rs1567850647
|
|
NM_001042492.3(NF1):c.3218T>C (p.Met1073Thr)
|
rs1555614827
|
|
NM_001042492.3(NF1):c.3218T>G (p.Met1073Arg)
|
rs1555614827
|
|
NM_001042492.3(NF1):c.3219G>C (p.Met1073Ile)
|
|
|
NM_001042492.3(NF1):c.3220G>A (p.Glu1074Lys)
|
|
|
NM_001042492.3(NF1):c.3223G>T (p.Ala1075Ser)
|
rs1597718763
|
|
NM_001042492.3(NF1):c.3223_3225delinsAGG (p.Ala1075Arg)
|
|
|
NM_001042492.3(NF1):c.3226G>A (p.Val1076Ile)
|
|
|
NM_001042492.3(NF1):c.3229G>C (p.Val1077Leu)
|
|
|
NM_001042492.3(NF1):c.3235C>A (p.Leu1079Ile)
|
|
|
NM_001042492.3(NF1):c.3235C>T (p.Leu1079Phe)
|
|
|
NM_001042492.3(NF1):c.3238C>G (p.Leu1080Val)
|
rs1555614832
|
|
NM_001042492.3(NF1):c.323T>C (p.Met108Thr)
|
rs780233935
|
|
NM_001042492.3(NF1):c.3241G>A (p.Ala1081Thr)
|
rs1555614834
|
|
NM_001042492.3(NF1):c.3241G>C (p.Ala1081Pro)
|
rs1555614834
|
|
NM_001042492.3(NF1):c.3244G>C (p.Gly1082Arg)
|
rs2067123009
|
|
NM_001042492.3(NF1):c.3245G>A (p.Gly1082Asp)
|
|
|
NM_001042492.3(NF1):c.3245G>C (p.Gly1082Ala)
|
rs1555614839
|
|
NM_001042492.3(NF1):c.3245_3247del (p.Gly1082_Leu1083delinsVal)
|
rs1597718783
|
|
NM_001042492.3(NF1):c.3250C>T (p.Pro1084Ser)
|
rs1555614848
|
|
NM_001042492.3(NF1):c.3251C>T (p.Pro1084Leu)
|
rs1164081667
|
|
NM_001042492.3(NF1):c.3253C>G (p.Leu1085Val)
|
rs145323424
|
|
NM_001042492.3(NF1):c.3254T>C (p.Leu1085Pro)
|
|
|
NM_001042492.3(NF1):c.3254T>G (p.Leu1085Arg)
|
rs1555614849
|
|
NM_001042492.3(NF1):c.3256C>A (p.Gln1086Lys)
|
|
|
NM_001042492.3(NF1):c.3257A>G (p.Gln1086Arg)
|
|
|
NM_001042492.3(NF1):c.3264A>C (p.Glu1088Asp)
|
|
|
NM_001042492.3(NF1):c.3265G>A (p.Glu1089Lys)
|
rs9907627
|
|
NM_001042492.3(NF1):c.3266A>G (p.Glu1089Gly)
|
|
|
NM_001042492.3(NF1):c.3268G>A (p.Gly1090Arg)
|
rs2151433819
|
|
NM_001042492.3(NF1):c.3269G>A (p.Gly1090Glu)
|
|
|
NM_001042492.3(NF1):c.3271G>A (p.Asp1091Asn)
|
rs2151433824
|
|
NM_001042492.3(NF1):c.3272A>G (p.Asp1091Gly)
|
|
|
NM_001042492.3(NF1):c.3272A>T (p.Asp1091Val)
|
|
|
NM_001042492.3(NF1):c.3273T>A (p.Asp1091Glu)
|
rs1131691124
|
|
NM_001042492.3(NF1):c.3274G>A (p.Gly1092Ser)
|
rs1457169236
|
|
NM_001042492.3(NF1):c.3274G>C (p.Gly1092Arg)
|
rs1457169236
|
|
NM_001042492.3(NF1):c.3275G>A (p.Gly1092Asp)
|
rs1597718838
|
|
NM_001042492.3(NF1):c.3275G>C (p.Gly1092Ala)
|
|
|
NM_001042492.3(NF1):c.3278T>C (p.Val1093Ala)
|
rs2067124037
|
|
NM_001042492.3(NF1):c.3279G>A (p.Val1093=)
|
rs769134583
|
|
NM_001042492.3(NF1):c.3287T>C (p.Met1096Thr)
|
rs863224659
|
|
NM_001042492.3(NF1):c.3287_3295del (p.Met1096_Ala1098del)
|
|
|
NM_001042492.3(NF1):c.3289G>A (p.Glu1097Lys)
|
rs1555614865
|
|
NM_001042492.3(NF1):c.3290A>G (p.Glu1097Gly)
|
|
|
NM_001042492.3(NF1):c.3292G>A (p.Ala1098Thr)
|
|
|
NM_001042492.3(NF1):c.3293C>T (p.Ala1098Val)
|
|
|
NM_001042492.3(NF1):c.3295A>C (p.Lys1099Gln)
|
|
|
NM_001042492.3(NF1):c.3296A>C (p.Lys1099Thr)
|
rs2151433877
|
|
NM_001042492.3(NF1):c.3299C>T (p.Ser1100Leu)
|
rs2067124341
|
|
NM_001042492.3(NF1):c.3302A>C (p.Gln1101Pro)
|
|
|
NM_001042492.3(NF1):c.3302A>G (p.Gln1101Arg)
|
|
|
NM_001042492.3(NF1):c.3304T>G (p.Leu1102Val)
|
|
|
NM_001042492.3(NF1):c.3308T>G (p.Phe1103Cys)
|
rs1597718879
|
|
NM_001042492.3(NF1):c.3310C>G (p.Leu1104Val)
|
rs140957113
|
|
NM_001042492.3(NF1):c.3310C>T (p.Leu1104Phe)
|
|
|
NM_001042492.3(NF1):c.3311T>C (p.Leu1104Pro)
|
rs2151433910
|
|
NM_001042492.3(NF1):c.3313A>G (p.Lys1105Glu)
|
rs1555614867
|
|
NM_001042492.3(NF1):c.3314A>G (p.Lys1105Arg)
|
|
|
NM_001042492.3(NF1):c.3315-11T>G
|
|
|
NM_001042492.3(NF1):c.3315-34_3315-4del
|
rs2151434319
|
|
NM_001042492.3(NF1):c.3315-3C>T
|
rs752318318
|
|
NM_001042492.3(NF1):c.3315A>G (p.Lys1105=)
|
rs1555614915
|
|
NM_001042492.3(NF1):c.3315A>T (p.Lys1105Asn)
|
|
|
NM_001042492.3(NF1):c.3317A>G (p.Tyr1106Cys)
|
rs1567850987
|
|
NM_001042492.3(NF1):c.3328T>A (p.Phe1110Ile)
|
rs2067134298
|
|
NM_001042492.3(NF1):c.3328T>C (p.Phe1110Leu)
|
rs2067134298
|
|
NM_001042492.3(NF1):c.3328T>G (p.Phe1110Val)
|
rs2067134298
|
|
NM_001042492.3(NF1):c.3330T>G (p.Phe1110Leu)
|
|
|
NM_001042492.3(NF1):c.3332T>C (p.Met1111Thr)
|
rs1555614920
|
|
NM_001042492.3(NF1):c.3334A>C (p.Asn1112His)
|
|
|
NM_001042492.3(NF1):c.3334A>G (p.Asn1112Asp)
|
|
|
NM_001042492.3(NF1):c.3335A>G (p.Asn1112Ser)
|
|
|
NM_001042492.3(NF1):c.3336C>A (p.Asn1112Lys)
|
rs1060500262
|
|
NM_001042492.3(NF1):c.3336C>G (p.Asn1112Lys)
|
rs1060500262
|
|
NM_001042492.3(NF1):c.3338T>C (p.Leu1113Pro)
|
rs2067134539
|
|
NM_001042492.3(NF1):c.333A>C (p.Lys111Asn)
|
|
|
NM_001042492.3(NF1):c.3346G>C (p.Asp1116His)
|
rs1555614932
|
|
NM_001042492.3(NF1):c.3347A>C (p.Asp1116Ala)
|
rs1597719439
|
|
NM_001042492.3(NF1):c.3349T>G (p.Cys1117Gly)
|
|
|
NM_001042492.3(NF1):c.334C>G (p.Gln112Glu)
|
|
|
NM_001042492.3(NF1):c.3350G>A (p.Cys1117Tyr)
|
rs876660762
|
|
NM_001042492.3(NF1):c.3350G>T (p.Cys1117Phe)
|
|
|
NM_001042492.3(NF1):c.3358G>A (p.Val1120Ile)
|
rs200594167
|
|
NM_001042492.3(NF1):c.3358G>T (p.Val1120Phe)
|
rs200594167
|
|
NM_001042492.3(NF1):c.3359T>A (p.Val1120Asp)
|
|
|
NM_001042492.3(NF1):c.3361G>A (p.Glu1121Lys)
|
rs1567851029
|
|
NM_001042492.3(NF1):c.3362A>C (p.Glu1121Ala)
|
rs757222815
|
|
NM_001042492.3(NF1):c.3363_3365del (p.Glu1121del)
|
rs2067135101
|
|
NM_001042492.3(NF1):c.3365A>G (p.Asp1122Gly)
|
rs1597719461
|
|
NM_001042492.3(NF1):c.3366T>G (p.Asp1122Glu)
|
|
|
NM_001042492.3(NF1):c.3368A>G (p.Glu1123Gly)
|
rs1410465727
|
|
NM_001042492.3(NF1):c.3369A>T (p.Glu1123Asp)
|
rs2151434565
|
|
NM_001042492.3(NF1):c.3371G>T (p.Ser1124Ile)
|
rs374472758
|
|
NM_001042492.3(NF1):c.3374C>G (p.Ala1125Gly)
|
rs902739109
|
|
NM_001042492.3(NF1):c.337T>A (p.Leu113Met)
|
|
|
NM_001042492.3(NF1):c.3383G>A (p.Gly1128Asp)
|
rs1060500325
|
|
NM_001042492.3(NF1):c.3383G>C (p.Gly1128Ala)
|
rs1060500325
|
|
NM_001042492.3(NF1):c.3383_3384insAACTTTTTG (p.Gly1128_Gly1129insThrPheCys)
|
|
|
NM_001042492.3(NF1):c.3387C>T (p.Gly1129=)
|
rs1369392487
|
|
NM_001042492.3(NF1):c.3391A>C (p.Lys1131Gln)
|
rs2067135932
|
|
NM_001042492.3(NF1):c.3394C>G (p.Arg1132Gly)
|
rs587781725
|
|
NM_001042492.3(NF1):c.3395G>T (p.Arg1132Leu)
|
|
|
NM_001042492.3(NF1):c.3397G>A (p.Gly1133Ser)
|
|
|
NM_001042492.3(NF1):c.339G>C (p.Leu113Phe)
|
|
|
NM_001042492.3(NF1):c.3400A>G (p.Met1134Val)
|
rs1597719532
|
|
NM_001042492.3(NF1):c.3402G>A (p.Met1134Ile)
|
rs587782701
|
|
NM_001042492.3(NF1):c.3404C>T (p.Ser1135Phe)
|
rs1555614952
|
|
NM_001042492.3(NF1):c.3406C>T (p.Arg1136Trp)
|
rs1341314304
|
|
NM_001042492.3(NF1):c.3407G>A (p.Arg1136Gln)
|
rs868407539
|
|
NM_001042492.3(NF1):c.3407G>C (p.Arg1136Pro)
|
rs868407539
|
|
NM_001042492.3(NF1):c.3411G>C (p.Arg1137Ser)
|
|
|
NM_001042492.3(NF1):c.3412C>T (p.Leu1138=)
|
rs1555614958
|
|
NM_001042492.3(NF1):c.3415G>A (p.Ala1139Thr)
|
rs587778551
|
|
NM_001042492.3(NF1):c.3415G>C (p.Ala1139Pro)
|
|
|
NM_001042492.3(NF1):c.3416C>A (p.Ala1139Glu)
|
rs1555614960
|
|
NM_001042492.3(NF1):c.3416C>T (p.Ala1139Val)
|
|
|
NM_001042492.3(NF1):c.341T>C (p.Leu114Pro)
|
|
|
NM_001042492.3(NF1):c.3425G>A (p.Arg1142Lys)
|
|
|
NM_001042492.3(NF1):c.3428A>G (p.His1143Arg)
|
rs1555614965
|
|
NM_001042492.3(NF1):c.3429C>A (p.His1143Gln)
|
rs2151434709
|
|
NM_001042492.3(NF1):c.3430T>C (p.Cys1144Arg)
|
rs2067136902
|
|
NM_001042492.3(NF1):c.3431G>C (p.Cys1144Ser)
|
|
|
NM_001042492.3(NF1):c.3433A>G (p.Thr1145Ala)
|
rs1450606511
|
|
NM_001042492.3(NF1):c.3437T>A (p.Val1146Asp)
|
rs2067137147
|
|
NM_001042492.3(NF1):c.3437T>C (p.Val1146Ala)
|
|
|
NM_001042492.3(NF1):c.3437T>G (p.Val1146Gly)
|
|
|
NM_001042492.3(NF1):c.343C>G (p.Pro115Ala)
|
|
|
NM_001042492.3(NF1):c.3442G>A (p.Ala1148Thr)
|
|
|
NM_001042492.3(NF1):c.3442G>C (p.Ala1148Pro)
|
rs2067137289
|
|
NM_001042492.3(NF1):c.3443C>T (p.Ala1148Val)
|
|
|
NM_001042492.3(NF1):c.3445A>T (p.Met1149Leu)
|
rs1187097568
|
|
NM_001042492.3(NF1):c.3446T>G (p.Met1149Arg)
|
rs1131691121
|
|
NM_001042492.3(NF1):c.3448T>C (p.Ser1150Pro)
|
rs2067137547
|
|
NM_001042492.3(NF1):c.3449C>T (p.Ser1150Leu)
|
rs1555614972
|
|
NM_001042492.3(NF1):c.3451A>G (p.Asn1151Asp)
|
rs1567851125
|
|
NM_001042492.3(NF1):c.3452_3457del (p.Asn1151_Leu1153delinsIle)
|
rs2067137679
|
|
NM_001042492.3(NF1):c.3453_3461dup (p.Asn1154_Ala1155insLeuLeuAsn)
|
|
|
NM_001042492.3(NF1):c.3454T>G (p.Leu1152Val)
|
rs771258163
|
|
NM_001042492.3(NF1):c.3455T>C (p.Leu1152Ser)
|
|
|
NM_001042492.3(NF1):c.3456A>C (p.Leu1152Phe)
|
|
|
NM_001042492.3(NF1):c.3457C>T (p.Leu1153Phe)
|
rs2151434781
|
|
NM_001042492.3(NF1):c.3458T>C (p.Leu1153Pro)
|
|
|
NM_001042492.3(NF1):c.3460A>G (p.Asn1154Asp)
|
rs2067137878
|
|
NM_001042492.3(NF1):c.3460A>T (p.Asn1154Tyr)
|
|
|
NM_001042492.3(NF1):c.3461A>C (p.Asn1154Thr)
|
|
|
NM_001042492.3(NF1):c.3462T>A (p.Asn1154Lys)
|
rs2067137994
|
|
NM_001042492.3(NF1):c.3463G>A (p.Ala1155Thr)
|
|
|
NM_001042492.3(NF1):c.3464C>G (p.Ala1155Gly)
|
rs1597719654
|
|
NM_001042492.3(NF1):c.3464C>T (p.Ala1155Val)
|
|
|
NM_001042492.3(NF1):c.3466A>C (p.Asn1156His)
|
|
|
NM_001042492.3(NF1):c.3467A>G (p.Asn1156Ser)
|
rs199474764
|
|
NM_001042492.3(NF1):c.3470T>C (p.Val1157Ala)
|
rs2151434814
|
|
NM_001042492.3(NF1):c.3472G>A (p.Asp1158Asn)
|
rs2151434821
|
|
NM_001042492.3(NF1):c.3473A>G (p.Asp1158Gly)
|
rs2151434824
|
|
NM_001042492.3(NF1):c.3475A>G (p.Ser1159Gly)
|
rs2067138274
|
|
NM_001042492.3(NF1):c.3475_3476insCTCACCTATGGA (p.Asp1158_Ser1159insThrHisLeuTrp)
|
|
|
NM_001042492.3(NF1):c.3476G>C (p.Ser1159Thr)
|
rs2151434835
|
|
NM_001042492.3(NF1):c.3478G>C (p.Gly1160Arg)
|
|
|
NM_001042492.3(NF1):c.3478G>T (p.Gly1160Cys)
|
rs786202815
|
|
NM_001042492.3(NF1):c.3479G>T (p.Gly1160Val)
|
|
|
NM_001042492.3(NF1):c.3484A>C (p.Met1162Leu)
|
|
|
NM_001042492.3(NF1):c.3484A>T (p.Met1162Leu)
|
rs773968270
|
|
NM_001042492.3(NF1):c.3486G>T (p.Met1162Ile)
|
|
|
NM_001042492.3(NF1):c.3487C>A (p.His1163Asn)
|
|
|
NM_001042492.3(NF1):c.348A>C (p.Glu116Asp)
|
rs1231174547
|
|
NM_001042492.3(NF1):c.3494T>C (p.Ile1165Thr)
|
rs786204211
|
|
NM_001042492.3(NF1):c.3495A>G (p.Ile1165Met)
|
rs876660814
|
|
NM_001042492.3(NF1):c.3496+3G>A
|
rs1060500287
|
|
NM_001042492.3(NF1):c.3496+3G>C
|
|
|
NM_001042492.3(NF1):c.3496+4A>G
|
|
|
NM_001042492.3(NF1):c.3496+53T>C
|
rs1555614994
|
|
NM_001042492.3(NF1):c.3496+5G>A
|
rs786202564
|
|
NM_001042492.3(NF1):c.3496+5G>C
|
rs786202564
|
|
NM_001042492.3(NF1):c.3496+5G>T
|
|
|
NM_001042492.3(NF1):c.3496+6A>C
|
rs2151434908
|
|
NM_001042492.3(NF1):c.3497-12T>A
|
rs753605564
|
|
NM_001042492.3(NF1):c.3497-16T>A
|
|
|
NM_001042492.3(NF1):c.3497-2A>G
|
|
|
NM_001042492.3(NF1):c.3497-3T>C
|
rs2067140936
|
|
NM_001042492.3(NF1):c.3497-5A>G
|
rs876660405
|
|
NM_001042492.3(NF1):c.3497G>T (p.Gly1166Val)
|
|
|
NM_001042492.3(NF1):c.349A>G (p.Ile117Val)
|
rs1597635759
|
|
NM_001042492.3(NF1):c.3501A>C (p.Leu1167Phe)
|
rs1555615008
|
|
NM_001042492.3(NF1):c.3503G>T (p.Gly1168Val)
|
|
|
NM_001042492.3(NF1):c.3505T>C (p.Tyr1169His)
|
rs2067141225
|
|
NM_001042492.3(NF1):c.3506A>C (p.Tyr1169Ser)
|
rs1555615014
|
|
NM_001042492.3(NF1):c.3506A>G (p.Tyr1169Cys)
|
rs1555615014
|
|
NM_001042492.3(NF1):c.3509A>T (p.His1170Leu)
|
rs1597719889
|
|
NM_001042492.3(NF1):c.3510C>G (p.His1170Gln)
|
|
|
NM_001042492.3(NF1):c.3512A>G (p.Lys1171Arg)
|
|
|
NM_001042492.3(NF1):c.3515A>G (p.Asp1172Gly)
|
rs1555615017
|
|
NM_001042492.3(NF1):c.3516T>A (p.Asp1172Glu)
|
rs2067141430
|
|
NM_001042492.3(NF1):c.3517C>T (p.Leu1173Phe)
|
rs1060500375
|
|
NM_001042492.3(NF1):c.3518T>C (p.Leu1173Pro)
|
rs2151435305
|
|
NM_001042492.3(NF1):c.3521A>G (p.Gln1174Arg)
|
rs1135402843
|
|
NM_001042492.3(NF1):c.3522G>T (p.Gln1174His)
|
rs2151435319
|
|
NM_001042492.3(NF1):c.3524C>T (p.Thr1175Ile)
|
rs1555615024
|
|
NM_001042492.3(NF1):c.3526A>G (p.Arg1176Gly)
|
rs2067141694
|
|
NM_001042492.3(NF1):c.3528A>C (p.Arg1176Ser)
|
|
|
NM_001042492.3(NF1):c.3530C>A (p.Ala1177Asp)
|
|
|
NM_001042492.3(NF1):c.3530C>T (p.Ala1177Val)
|
rs1597719920
|
|
NM_001042492.3(NF1):c.3532A>T (p.Thr1178Ser)
|
rs2067141791
|
|
NM_001042492.3(NF1):c.3533C>A (p.Thr1178Lys)
|
rs1555615025
|
|
NM_001042492.3(NF1):c.3533C>G (p.Thr1178Arg)
|
rs1555615025
|
|
NM_001042492.3(NF1):c.3533_3538del (p.Thr1178_Phe1179del)
|
|
|
NM_001042492.3(NF1):c.3538A>G (p.Met1180Val)
|
rs786203658
|
|
NM_001042492.3(NF1):c.3538A>T (p.Met1180Leu)
|
rs786203658
|
|
NM_001042492.3(NF1):c.3540G>A (p.Met1180Ile)
|
|
|
NM_001042492.3(NF1):c.3543A>C (p.Glu1181Asp)
|
|
|
NM_001042492.3(NF1):c.3545T>C (p.Val1182Ala)
|
rs2067142076
|
|
NM_001042492.3(NF1):c.3545T>G (p.Val1182Gly)
|
|
|
NM_001042492.3(NF1):c.3548T>C (p.Leu1183Pro)
|
rs1555615028
|
|
NM_001042492.3(NF1):c.3550A>C (p.Thr1184Pro)
|
rs2151435398
|
|
NM_001042492.3(NF1):c.3550A>G (p.Thr1184Ala)
|
rs2151435398
|
|
NM_001042492.3(NF1):c.3551C>G (p.Thr1184Arg)
|
rs752850053
|
|
NM_001042492.3(NF1):c.3553A>G (p.Lys1185Glu)
|
rs2151435410
|
|
NM_001042492.3(NF1):c.3556A>T (p.Ile1186Phe)
|
|
|
NM_001042492.3(NF1):c.3557T>C (p.Ile1186Thr)
|
|
|
NM_001042492.3(NF1):c.3559C>G (p.Leu1187Val)
|
|
|
NM_001042492.3(NF1):c.3559C>T (p.Leu1187Phe)
|
rs2067142260
|
|
NM_001042492.3(NF1):c.355C>A (p.His119Asn)
|
rs1555606066
|
|
NM_001042492.3(NF1):c.355C>T (p.His119Tyr)
|
rs1555606066
|
|
NM_001042492.3(NF1):c.3563A>G (p.Gln1188Arg)
|
rs758419553
|
|
NM_001042492.3(NF1):c.3564A>T (p.Gln1188His)
|
|
|
NM_001042492.3(NF1):c.3565C>G (p.Gln1189Glu)
|
rs878853884
|
|
NM_001042492.3(NF1):c.3567A>G (p.Gln1189=)
|
|
|
NM_001042492.3(NF1):c.356A>G (p.His119Arg)
|
rs150080742
|
|
NM_001042492.3(NF1):c.3571A>G (p.Thr1191Ala)
|
rs1555615033
|
|
NM_001042492.3(NF1):c.3571A>T (p.Thr1191Ser)
|
rs1555615033
|
|
NM_001042492.3(NF1):c.3578T>C (p.Phe1193Ser)
|
rs199474780
|
|
NM_001042492.3(NF1):c.3581A>G (p.Asp1194Gly)
|
|
|
NM_001042492.3(NF1):c.3582C>G (p.Asp1194Glu)
|
rs1555615036
|
|
NM_001042492.3(NF1):c.3584C>T (p.Thr1195Ile)
|
|
|
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.3592G>C (p.Glu1198Gln)
|
|
|
NM_001042492.3(NF1):c.3593A>G (p.Glu1198Gly)
|
|
|
NM_001042492.3(NF1):c.3595A>G (p.Thr1199Ala)
|
rs1453504440
|
|
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.3598G>A (p.Val1200Ile)
|
rs1597720021
|
|
NM_001042492.3(NF1):c.3598G>T (p.Val1200Leu)
|
rs1597720021
|
|
NM_001042492.3(NF1):c.3599T>C (p.Val1200Ala)
|
|
|
NM_001042492.3(NF1):c.359T>C (p.Phe120Ser)
|
|
|
NM_001042492.3(NF1):c.3602T>C (p.Leu1201Ser)
|
|
|
NM_001042492.3(NF1):c.3607G>A (p.Asp1203Asn)
|
rs1555615051
|
|
NM_001042492.3(NF1):c.3608A>T (p.Asp1203Val)
|
|
|
NM_001042492.3(NF1):c.360T>G (p.Phe120Leu)
|
|
|
NM_001042492.3(NF1):c.3611G>A (p.Arg1204Gln)
|
rs1057521848
|
|
NM_001042492.3(NF1):c.3613T>G (p.Phe1205Val)
|
|
|
NM_001042492.3(NF1):c.3614T>G (p.Phe1205Cys)
|
rs1597720068
|
|
NM_001042492.3(NF1):c.3617A>G (p.Glu1206Gly)
|
rs1597720070
|
|
NM_001042492.3(NF1):c.3623T>C (p.Leu1208Ser)
|
rs1060500374
|
|
NM_001042492.3(NF1):c.3625G>C (p.Val1209Leu)
|
rs1458579232
|
|
NM_001042492.3(NF1):c.3625G>T (p.Val1209Leu)
|
rs1458579232
|
|
NM_001042492.3(NF1):c.3632T>C (p.Leu1211Pro)
|
|
|
NM_001042492.3(NF1):c.3632T>G (p.Leu1211Arg)
|
rs1135402845
|
|
NM_001042492.3(NF1):c.3634G>A (p.Val1212Ile)
|
rs1597720116
|
|
NM_001042492.3(NF1):c.3635T>A (p.Val1212Asp)
|
|
|
NM_001042492.3(NF1):c.3637A>T (p.Thr1213Ser)
|
|
|
NM_001042492.3(NF1):c.3643A>G (p.Met1215Val)
|
rs2067143915
|
|
NM_001042492.3(NF1):c.3644T>A (p.Met1215Lys)
|
|
|
NM_001042492.3(NF1):c.3644T>C (p.Met1215Thr)
|
rs1555615071
|
|
NM_001042492.3(NF1):c.3646G>T (p.Gly1216Cys)
|
rs1567851424
|
|
NM_001042492.3(NF1):c.3647G>A (p.Gly1216Asp)
|
|
|
NM_001042492.3(NF1):c.364C>T (p.His122Tyr)
|
rs587782107
|
|
NM_001042492.3(NF1):c.3653A>C (p.Gln1218Pro)
|
rs876659541
|
|
NM_001042492.3(NF1):c.3653A>G (p.Gln1218Arg)
|
rs876659541
|
|
NM_001042492.3(NF1):c.3655G>C (p.Gly1219Arg)
|
rs2067144197
|
|
NM_001042492.3(NF1):c.3656_3658del (p.Gly1219del)
|
rs1555615077
|
|
NM_001042492.3(NF1):c.3658G>A (p.Glu1220Lys)
|
rs1597720155
|
|
NM_001042492.3(NF1):c.3658G>C (p.Glu1220Gln)
|
rs1597720155
|
|
NM_001042492.3(NF1):c.3659A>C (p.Glu1220Ala)
|
rs2067144350
|
|
NM_001042492.3(NF1):c.3660A>T (p.Glu1220Asp)
|
rs1597720161
|
|
NM_001042492.3(NF1):c.3661C>T (p.Leu1221Phe)
|
|
|
NM_001042492.3(NF1):c.3662T>C (p.Leu1221Pro)
|
rs1597720167
|
|
NM_001042492.3(NF1):c.3664C>G (p.Pro1222Ala)
|
rs1555615088
|
|
NM_001042492.3(NF1):c.3664C>T (p.Pro1222Ser)
|
rs1555615088
|
|
NM_001042492.3(NF1):c.3665C>G (p.Pro1222Arg)
|
|
|
NM_001042492.3(NF1):c.3667A>G (p.Ile1223Val)
|
rs1567851470
|
|
NM_001042492.3(NF1):c.3668T>C (p.Ile1223Thr)
|
|
|
NM_001042492.3(NF1):c.3668T>G (p.Ile1223Arg)
|
rs1555615091
|
|
NM_001042492.3(NF1):c.366C>G (p.His122Gln)
|
rs138952888
|
|
NM_001042492.3(NF1):c.3671C>G (p.Ala1224Gly)
|
rs1060500340
|
|
NM_001042492.3(NF1):c.3671C>T (p.Ala1224Val)
|
rs1060500340
|
|
NM_001042492.3(NF1):c.3673A>G (p.Met1225Val)
|
rs770837892
|
|
NM_001042492.3(NF1):c.3674T>C (p.Met1225Thr)
|
|
|
NM_001042492.3(NF1):c.3675G>A (p.Met1225Ile)
|
|
|
NM_001042492.3(NF1):c.3678_3683del (p.Leu1227_Ala1228del)
|
rs2151435745
|
|
NM_001042492.3(NF1):c.3679C>G (p.Leu1227Val)
|
rs876660431
|
|
NM_001042492.3(NF1):c.3683C>T (p.Ala1228Val)
|
rs1060500315
|
|
NM_001042492.3(NF1):c.3685A>G (p.Asn1229Asp)
|
rs1555615102
|
|
NM_001042492.3(NF1):c.3685A>T (p.Asn1229Tyr)
|
rs1555615102
|
|
NM_001042492.3(NF1):c.3686A>C (p.Asn1229Thr)
|
rs140523180
|
|
NM_001042492.3(NF1):c.3689T>C (p.Val1230Ala)
|
rs587782820
|
|
NM_001042492.3(NF1):c.368C>A (p.Thr123Asn)
|
rs878853886
|
|
NM_001042492.3(NF1):c.368C>G (p.Thr123Ser)
|
|
|
NM_001042492.3(NF1):c.368C>T (p.Thr123Ile)
|
rs878853886
|
|
NM_001042492.3(NF1):c.3691G>A (p.Val1231Ile)
|
|
|
NM_001042492.3(NF1):c.3691G>C (p.Val1231Leu)
|
|
|
NM_001042492.3(NF1):c.3691G>T (p.Val1231Phe)
|
rs1597720248
|
|
NM_001042492.3(NF1):c.3695C>T (p.Pro1232Leu)
|
rs2067145287
|
|
NM_001042492.3(NF1):c.3697T>C (p.Cys1233Arg)
|
rs2151435803
|
|
NM_001042492.3(NF1):c.3698G>A (p.Cys1233Tyr)
|
|
|
NM_001042492.3(NF1):c.3698G>C (p.Cys1233Ser)
|
rs2067145365
|
|
NM_001042492.3(NF1):c.3701C>T (p.Ser1234Phe)
|
|
|
NM_001042492.3(NF1):c.3706T>C (p.Trp1236Arg)
|
rs1555615111
|
|
NM_001042492.3(NF1):c.3708+3A>G
|
rs1555615114
|
|
NM_001042492.3(NF1):c.3708+3_3708+6del
|
rs2151435840
|
|
NM_001042492.3(NF1):c.3708+4A>G
|
rs2067145705
|
|
NM_001042492.3(NF1):c.3708+5G>C
|
rs1597720280
|
|
NM_001042492.3(NF1):c.3709-3C>A
|
rs1555615430
|
|
NM_001042492.3(NF1):c.3709-3C>T
|
rs1555615430
|
|
NM_001042492.3(NF1):c.3709-5C>T
|
rs1390680821
|
|
NM_001042492.3(NF1):c.370T>A (p.Cys124Ser)
|
rs1555606074
|
|
NM_001042492.3(NF1):c.3711T>G (p.Asp1237Glu)
|
rs876659917
|
|
NM_001042492.3(NF1):c.3712G>A (p.Glu1238Lys)
|
|
|
NM_001042492.3(NF1):c.3712G>C (p.Glu1238Gln)
|
rs1060500346
|
|
NM_001042492.3(NF1):c.3713A>C (p.Glu1238Ala)
|
rs2151437710
|
|
NM_001042492.3(NF1):c.3714A>T (p.Glu1238Asp)
|
|
|
NM_001042492.3(NF1):c.3718G>C (p.Ala1240Pro)
|
|
|
NM_001042492.3(NF1):c.3718G>T (p.Ala1240Ser)
|
rs2151437719
|
|
NM_001042492.3(NF1):c.3719C>T (p.Ala1240Val)
|
rs2067185676
|
|
NM_001042492.3(NF1):c.3721C>G (p.Arg1241Gly)
|
rs137854562
|
|
NM_001042492.3(NF1):c.3722G>C (p.Arg1241Pro)
|
rs543387071
|
|
NM_001042492.3(NF1):c.3725T>C (p.Val1242Ala)
|
|
|
NM_001042492.3(NF1):c.3725T>G (p.Val1242Gly)
|
rs2067185801
|
|
NM_001042492.3(NF1):c.3727C>G (p.Leu1243Val)
|
|
|
NM_001042492.3(NF1):c.3733A>C (p.Thr1245Pro)
|
|
|
NM_001042492.3(NF1):c.3733A>G (p.Thr1245Ala)
|
rs786203616
|
|
NM_001042492.3(NF1):c.3733A>T (p.Thr1245Ser)
|
rs786203616
|
|
NM_001042492.3(NF1):c.3734C>G (p.Thr1245Ser)
|
rs1363534157
|
|
NM_001042492.3(NF1):c.3734_3735delinsTC (p.Thr1245Ile)
|
rs2151437761
|
|
NM_001042492.3(NF1):c.3736C>G (p.Leu1246Val)
|
rs1567852501
|
|
NM_001042492.3(NF1):c.373C>A (p.Arg125Ser)
|
rs876659418
|
|
NM_001042492.3(NF1):c.373C>G (p.Arg125Gly)
|
rs876659418
|
|
NM_001042492.3(NF1):c.373C>T (p.Arg125Cys)
|
rs876659418
|
|
NM_001042492.3(NF1):c.373_375del (p.Arg125del)
|
rs2143671923
|
|
NM_001042492.3(NF1):c.3740T>G (p.Phe1247Cys)
|
|
|
NM_001042492.3(NF1):c.3743A>G (p.Asp1248Gly)
|
rs2067186495
|
|
NM_001042492.3(NF1):c.3745T>C (p.Ser1249Pro)
|
|
|
NM_001042492.3(NF1):c.3746C>G (p.Ser1249Cys)
|
|
|
NM_001042492.3(NF1):c.3748C>A (p.Arg1250=)
|
|
|
NM_001042492.3(NF1):c.3748C>G (p.Arg1250Gly)
|
|
|
NM_001042492.3(NF1):c.3749G>T (p.Arg1250Leu)
|
rs199474765
|
|
NM_001042492.3(NF1):c.374G>C (p.Arg125Pro)
|
|
|
NM_001042492.3(NF1):c.374G>T (p.Arg125Leu)
|
rs149003051
|
|
NM_001042492.3(NF1):c.3752A>C (p.His1251Pro)
|
rs1567852526
|
|
NM_001042492.3(NF1):c.3752A>G (p.His1251Arg)
|
rs1567852526
|
|
NM_001042492.3(NF1):c.3753T>A (p.His1251Gln)
|
rs1597722470
|
|
NM_001042492.3(NF1):c.3757C>G (p.Leu1253Val)
|
rs2067186931
|
|
NM_001042492.3(NF1):c.3757C>T (p.Leu1253Phe)
|
rs2067186931
|
|
NM_001042492.3(NF1):c.3759_3767del (p.Tyr1254_Leu1256del)
|
rs1597722477
|
|
NM_001042492.3(NF1):c.3760T>C (p.Tyr1254His)
|
rs2067186968
|
|
NM_001042492.3(NF1):c.3761A>C (p.Tyr1254Ser)
|
|
|
NM_001042492.3(NF1):c.3763C>G (p.Gln1255Glu)
|
|
|
NM_001042492.3(NF1):c.3764A>G (p.Gln1255Arg)
|
rs1555615453
|
|
NM_001042492.3(NF1):c.3765A>C (p.Gln1255His)
|
rs766896025
|
|
NM_001042492.3(NF1):c.3765A>T (p.Gln1255His)
|
rs766896025
|
|
NM_001042492.3(NF1):c.3765_3766insATT (p.Gln1255_Leu1256insIle)
|
|
|
NM_001042492.3(NF1):c.3767T>A (p.Leu1256Gln)
|
|
|
NM_001042492.3(NF1):c.3767T>G (p.Leu1256Arg)
|
rs1555615457
|
|
NM_001042492.3(NF1):c.3769C>A (p.Leu1257Ile)
|
rs2151437853
|
|
NM_001042492.3(NF1):c.3769C>T (p.Leu1257Phe)
|
|
|
NM_001042492.3(NF1):c.3773G>T (p.Trp1258Leu)
|
rs1555615458
|
|
NM_001042492.3(NF1):c.3774G>C (p.Trp1258Cys)
|
rs1597722516
|
|
NM_001042492.3(NF1):c.3776A>G (p.Asn1259Ser)
|
rs2151437868
|
|
NM_001042492.3(NF1):c.3779T>C (p.Met1260Thr)
|
rs1555615463
|
|
NM_001042492.3(NF1):c.3780G>T (p.Met1260Ile)
|
|
|
NM_001042492.3(NF1):c.3784T>G (p.Ser1262Ala)
|
rs2067187603
|
|
NM_001042492.3(NF1):c.3787A>G (p.Lys1263Glu)
|
|
|
NM_001042492.3(NF1):c.378A>C (p.Glu126Asp)
|
rs786201914
|
|
NM_001042492.3(NF1):c.3790G>A (p.Glu1264Lys)
|
rs863224660
|
|
NM_001042492.3(NF1):c.3790G>C (p.Glu1264Gln)
|
|
|
NM_001042492.3(NF1):c.3791A>G (p.Glu1264Gly)
|
rs200603400
|
|
NM_001042492.3(NF1):c.3793G>A (p.Val1265Ile)
|
rs2151437905
|
|
NM_001042492.3(NF1):c.3793G>T (p.Val1265Leu)
|
rs2151437905
|
|
NM_001042492.3(NF1):c.3794T>C (p.Val1265Ala)
|
|
|
NM_001042492.3(NF1):c.3794_3796del (p.Val1265del)
|
rs2067187885
|
|
NM_001042492.3(NF1):c.3796G>C (p.Glu1266Gln)
|
rs876660667
|
|
NM_001042492.3(NF1):c.3797A>G (p.Glu1266Gly)
|
|
|
NM_001042492.3(NF1):c.379_380delinsTT (p.Gly127Leu)
|
rs2143672112
|
|
NM_001042492.3(NF1):c.3801G>T (p.Leu1267Phe)
|
rs786201366
|
|
NM_001042492.3(NF1):c.3802G>T (p.Ala1268Ser)
|
rs758051144
|
|
NM_001042492.3(NF1):c.3803C>G (p.Ala1268Gly)
|
rs2067188136
|
|
NM_001042492.3(NF1):c.3803C>T (p.Ala1268Val)
|
rs2067188136
|
|
NM_001042492.3(NF1):c.3805G>A (p.Asp1269Asn)
|
|
|
NM_001042492.3(NF1):c.3806A>G (p.Asp1269Gly)
|
rs2151437934
|
|
NM_001042492.3(NF1):c.3808T>A (p.Ser1270Thr)
|
rs1597722567
|
|
NM_001042492.3(NF1):c.3808T>C (p.Ser1270Pro)
|
rs1597722567
|
|
NM_001042492.3(NF1):c.3809C>T (p.Ser1270Phe)
|
|
|
NM_001042492.3(NF1):c.380G>A (p.Gly127Glu)
|
|
|
NM_001042492.3(NF1):c.3811A>C (p.Met1271Leu)
|
rs746583007
|
|
NM_001042492.3(NF1):c.3812T>C (p.Met1271Thr)
|
rs876659801
|
|
NM_001042492.3(NF1):c.3813G>A (p.Met1271Ile)
|
rs876658565
|
|
NM_001042492.3(NF1):c.3813G>C (p.Met1271Ile)
|
rs876658565
|
|
NM_001042492.3(NF1):c.3814C>A (p.Gln1272Lys)
|
rs2067188361
|
|
NM_001042492.3(NF1):c.3815A>G (p.Gln1272Arg)
|
rs1597722580
|
|
NM_001042492.3(NF1):c.3815A>T (p.Gln1272Leu)
|
rs1597722580
|
|
NM_001042492.3(NF1):c.3816G>C (p.Gln1272His)
|
|
|
NM_001042492.3(NF1):c.3817A>G (p.Thr1273Ala)
|
|
|
NM_001042492.3(NF1):c.3818C>A (p.Thr1273Asn)
|
|
|
NM_001042492.3(NF1):c.3818C>G (p.Thr1273Ser)
|
|
|
NM_001042492.3(NF1):c.3818C>T (p.Thr1273Ile)
|
|
|
NM_001042492.3(NF1):c.3818_3819delinsGA (p.Thr1273Arg)
|
rs2067188491
|
|
NM_001042492.3(NF1):c.3820C>T (p.Leu1274Phe)
|
rs2067188550
|
|
NM_001042492.3(NF1):c.3821T>C (p.Leu1274Pro)
|
|
|
NM_001042492.3(NF1):c.3823T>G (p.Phe1275Val)
|
|
|
NM_001042492.3(NF1):c.3826_3827delinsGA (p.Arg1276Glu)
|
|
|
NM_001042492.3(NF1):c.3830G>A (p.Gly1277Asp)
|
|
|
NM_001042492.3(NF1):c.3830G>C (p.Gly1277Ala)
|
|
|
NM_001042492.3(NF1):c.3830G>T (p.Gly1277Val)
|
rs1555615480
|
|
NM_001042492.3(NF1):c.3831C>T (p.Gly1277=)
|
rs1597722611
|
|
NM_001042492.3(NF1):c.3832A>G (p.Asn1278Asp)
|
|
|
NM_001042492.3(NF1):c.3833A>G (p.Asn1278Ser)
|
rs2067188951
|
|
NM_001042492.3(NF1):c.3833A>T (p.Asn1278Ile)
|
rs2067188951
|
|
NM_001042492.3(NF1):c.3834C>A (p.Asn1278Lys)
|
|
|
NM_001042492.3(NF1):c.3835A>T (p.Ser1279Cys)
|
|
|
NM_001042492.3(NF1):c.3836G>A (p.Ser1279Asn)
|
rs1170788683
|
|
NM_001042492.3(NF1):c.3838T>G (p.Leu1280Val)
|
|
|
NM_001042492.3(NF1):c.383A>G (p.Asn128Ser)
|
|
|
NM_001042492.3(NF1):c.3840G>T (p.Leu1280Phe)
|
|
|
NM_001042492.3(NF1):c.3841G>A (p.Ala1281Thr)
|
rs2151438011
|
|
NM_001042492.3(NF1):c.3841G>C (p.Ala1281Pro)
|
rs2151438011
|
|
NM_001042492.3(NF1):c.3842C>A (p.Ala1281Asp)
|
|
|
NM_001042492.3(NF1):c.3842C>G (p.Ala1281Gly)
|
rs1060500341
|
|
NM_001042492.3(NF1):c.3844A>G (p.Ser1282Gly)
|
|
|
NM_001042492.3(NF1):c.3847A>G (p.Lys1283Glu)
|
|
|
NM_001042492.3(NF1):c.3849A>G (p.Lys1283=)
|
rs1597722644
|
|
NM_001042492.3(NF1):c.3849A>T (p.Lys1283Asn)
|
rs1597722644
|
|
NM_001042492.3(NF1):c.3850A>G (p.Ile1284Val)
|
rs775206529
|
|
NM_001042492.3(NF1):c.3852A>G (p.Ile1284Met)
|
rs1597722650
|
|
NM_001042492.3(NF1):c.3853A>C (p.Met1285Leu)
|
rs2151438030
|
|
NM_001042492.3(NF1):c.3853A>G (p.Met1285Val)
|
|
|
NM_001042492.3(NF1):c.3853A>T (p.Met1285Leu)
|
rs2151438030
|
|
NM_001042492.3(NF1):c.3854T>C (p.Met1285Thr)
|
|
|
NM_001042492.3(NF1):c.3854T>G (p.Met1285Arg)
|
rs2067189465
|
|
NM_001042492.3(NF1):c.3855G>C (p.Met1285Ile)
|
rs2067189497
|
|
NM_001042492.3(NF1):c.3855G>T (p.Met1285Ile)
|
rs2067189497
|
|
NM_001042492.3(NF1):c.3857C>T (p.Thr1286Ile)
|
rs1060500306
|
|
NM_001042492.3(NF1):c.3859T>C (p.Phe1287Leu)
|
rs1434858786
|
|
NM_001042492.3(NF1):c.3859T>G (p.Phe1287Val)
|
rs1434858786
|
|
NM_001042492.3(NF1):c.3861C>A (p.Phe1287Leu)
|
rs749107019
|
|
NM_001042492.3(NF1):c.3863G>A (p.Cys1288Tyr)
|
rs1597722661
|
|
NM_001042492.3(NF1):c.3863G>T (p.Cys1288Phe)
|
|
|
NM_001042492.3(NF1):c.3866T>G (p.Phe1289Cys)
|
rs2151438065
|
|
NM_001042492.3(NF1):c.3867C>G (p.Phe1289Leu)
|
rs138186428
|
|
NM_001042492.3(NF1):c.3868A>G (p.Lys1290Glu)
|
rs876658521
|
|
NM_001042492.3(NF1):c.386A>T (p.Gln129Leu)
|
rs1060500250
|
|
NM_001042492.3(NF1):c.3870+3T>A
|
|
|
NM_001042492.3(NF1):c.3870+5G>A
|
|
|
NM_001042492.3(NF1):c.3871-15C>A
|
|
|
NM_001042492.3(NF1):c.3871-31_3871-8del
|
|
|
NM_001042492.3(NF1):c.3871-4G>A
|
rs558421445
|
|
NM_001042492.3(NF1):c.3871-5T>G
|
rs1597722882
|
|
NM_001042492.3(NF1):c.3871G>A (p.Val1291Ile)
|
|
|
NM_001042492.3(NF1):c.3872T>C (p.Val1291Ala)
|
|
|
NM_001042492.3(NF1):c.3875A>G (p.Tyr1292Cys)
|
rs1060500243
|
|
NM_001042492.3(NF1):c.3877G>A (p.Gly1293Ser)
|
|
|
NM_001042492.3(NF1):c.3878G>A (p.Gly1293Asp)
|
rs2067193448
|
|
NM_001042492.3(NF1):c.387G>C (p.Gln129His)
|
rs1390215440
|
|
NM_001042492.3(NF1):c.3880G>A (p.Ala1294Thr)
|
rs2067193484
|
|
NM_001042492.3(NF1):c.3881C>T (p.Ala1294Val)
|
rs878853889
|
|
NM_001042492.3(NF1):c.3884C>T (p.Thr1295Ile)
|
rs2151438517
|
|
NM_001042492.3(NF1):c.3887A>G (p.Tyr1296Cys)
|
|
|
NM_001042492.3(NF1):c.3889C>A (p.Leu1297Ile)
|
|
|
NM_001042492.3(NF1):c.388C>T (p.His130Tyr)
|
|
|
NM_001042492.3(NF1):c.3890T>C (p.Leu1297Pro)
|
rs1597722927
|
|
NM_001042492.3(NF1):c.3891_3899del (p.Gln1298_Leu1300del)
|
rs2151438534
|
|
NM_001042492.3(NF1):c.3893A>G (p.Gln1298Arg)
|
rs786203509
|
|
NM_001042492.3(NF1):c.3895A>C (p.Lys1299Gln)
|
rs2067193845
|
|
NM_001042492.3(NF1):c.3896A>C (p.Lys1299Thr)
|
|
|
NM_001042492.3(NF1):c.3897A>T (p.Lys1299Asn)
|
|
|
NM_001042492.3(NF1):c.389A>C (p.His130Pro)
|
|
|
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.3900_3902del (p.Leu1301del)
|
rs2067193878
|
|
NM_001042492.3(NF1):c.3902T>C (p.Leu1301Pro)
|
rs2151438576
|
|
NM_001042492.3(NF1):c.3904G>A (p.Asp1302Asn)
|
rs1597722958
|
|
NM_001042492.3(NF1):c.3905A>G (p.Asp1302Gly)
|
rs2067194038
|
|
NM_001042492.3(NF1):c.3906T>A (p.Asp1302Glu)
|
rs549058591
|
|
NM_001042492.3(NF1):c.3907C>T (p.Pro1303Ser)
|
|
|
NM_001042492.3(NF1):c.3908C>G (p.Pro1303Arg)
|
rs1597722962
|
|
NM_001042492.3(NF1):c.3908C>T (p.Pro1303Leu)
|
|
|
NM_001042492.3(NF1):c.390T>A (p.His130Gln)
|
rs1597635884
|
|
NM_001042492.3(NF1):c.3912A>T (p.Leu1304Phe)
|
rs2151438597
|
|
NM_001042492.3(NF1):c.3916C>T (p.Arg1306Ter)
|
rs376576925
|
|
NM_001042492.3(NF1):c.3917G>A (p.Arg1306Gln)
|
rs1306237220
|
|
NM_001042492.3(NF1):c.391G>A (p.Ala131Thr)
|
|
|
NM_001042492.3(NF1):c.3920T>G (p.Ile1307Ser)
|
rs2067194362
|
|
NM_001042492.3(NF1):c.3921T>G (p.Ile1307Met)
|
rs876660805
|
|
NM_001042492.3(NF1):c.3925A>G (p.Ile1309Val)
|
rs1350012235
|
|
NM_001042492.3(NF1):c.3926T>A (p.Ile1309Asn)
|
rs1567852796
|
|
NM_001042492.3(NF1):c.3928A>G (p.Thr1310Ala)
|
|
|
NM_001042492.3(NF1):c.3929C>A (p.Thr1310Lys)
|
rs1555615554
|
|
NM_001042492.3(NF1):c.3929C>T (p.Thr1310Ile)
|
rs1555615554
|
|
NM_001042492.3(NF1):c.392C>T (p.Ala131Val)
|
rs1567817930
|
|
NM_001042492.3(NF1):c.3932C>A (p.Ser1311Tyr)
|
rs587782894
|
|
NM_001042492.3(NF1):c.3932C>T (p.Ser1311Phe)
|
rs587782894
|
|
NM_001042492.3(NF1):c.3937G>C (p.Asp1313His)
|
|
|
NM_001042492.3(NF1):c.393_394delinsCC (p.Ala132Pro)
|
rs2065794141
|
|
NM_001042492.3(NF1):c.3941G>T (p.Trp1314Leu)
|
|
|
NM_001042492.3(NF1):c.3943C>A (p.Gln1315Lys)
|
rs2067194846
|
|
NM_001042492.3(NF1):c.3944A>C (p.Gln1315Pro)
|
|
|
NM_001042492.3(NF1):c.3945A>C (p.Gln1315His)
|
|
|
NM_001042492.3(NF1):c.3946C>T (p.His1316Tyr)
|
rs1218464470
|
|
NM_001042492.3(NF1):c.3947A>C (p.His1316Pro)
|
rs751023085
|
|
NM_001042492.3(NF1):c.3947A>T (p.His1316Leu)
|
rs751023085
|
|
NM_001042492.3(NF1):c.3949G>A (p.Val1317Ile)
|
rs1555615560
|
|
NM_001042492.3(NF1):c.3949G>C (p.Val1317Leu)
|
rs1555615560
|
|
NM_001042492.3(NF1):c.394G>A (p.Ala132Thr)
|
|
|
NM_001042492.3(NF1):c.394G>C (p.Ala132Pro)
|
|
|
NM_001042492.3(NF1):c.3950T>C (p.Val1317Ala)
|
|
|
NM_001042492.3(NF1):c.3952A>G (p.Ser1318Gly)
|
|
|
NM_001042492.3(NF1):c.3953G>A (p.Ser1318Asn)
|
rs587781900
|
|
NM_001042492.3(NF1):c.3953G>C (p.Ser1318Thr)
|
|
|
NM_001042492.3(NF1):c.3955T>C (p.Phe1319Leu)
|
|
|
NM_001042492.3(NF1):c.3955T>G (p.Phe1319Val)
|
|
|
NM_001042492.3(NF1):c.3957T>G (p.Phe1319Leu)
|
|
|
NM_001042492.3(NF1):c.3958G>A (p.Glu1320Lys)
|
rs1273280025
|
|
NM_001042492.3(NF1):c.3959A>C (p.Glu1320Ala)
|
rs1555615562
|
|
NM_001042492.3(NF1):c.3959A>G (p.Glu1320Gly)
|
|
|
NM_001042492.3(NF1):c.3960A>C (p.Glu1320Asp)
|
rs1555615564
|
|
NM_001042492.3(NF1):c.3962T>G (p.Val1321Gly)
|
rs1060500337
|
|
NM_001042492.3(NF1):c.3964G>A (p.Asp1322Asn)
|
rs1597723042
|
|
NM_001042492.3(NF1):c.3964G>C (p.Asp1322His)
|
rs1597723042
|
|
NM_001042492.3(NF1):c.3964G>T (p.Asp1322Tyr)
|
|
|
NM_001042492.3(NF1):c.3965A>C (p.Asp1322Ala)
|
rs1555615565
|
|
NM_001042492.3(NF1):c.3965A>G (p.Asp1322Gly)
|
|
|
NM_001042492.3(NF1):c.3965A>T (p.Asp1322Val)
|
rs1555615565
|
|
NM_001042492.3(NF1):c.3967C>G (p.Pro1323Ala)
|
rs2067195656
|
|
NM_001042492.3(NF1):c.3967C>T (p.Pro1323Ser)
|
rs2067195656
|
|
NM_001042492.3(NF1):c.3968C>G (p.Pro1323Arg)
|
|
|
NM_001042492.3(NF1):c.3968C>T (p.Pro1323Leu)
|
|
|
NM_001042492.3(NF1):c.3971C>T (p.Thr1324Ile)
|
rs2067195762
|
|
NM_001042492.3(NF1):c.3972C>T (p.Thr1324=)
|
rs1597723059
|
|
NM_001042492.3(NF1):c.3973A>G (p.Arg1325Gly)
|
rs2151438704
|
|
NM_001042492.3(NF1):c.3973A>T (p.Arg1325Trp)
|
|
|
NM_001042492.3(NF1):c.3974+260T>G
|
rs1567853044
|
|
NM_001042492.3(NF1):c.3974+3T>G
|
rs1597723069
|
|
NM_001042492.3(NF1):c.3975-2_4018dup
|
rs2151451269
|
|
NM_001042492.3(NF1):c.3975-5dup
|
rs786202231
|
|
NM_001042492.3(NF1):c.3975-7T>C
|
rs2151451258
|
|
NM_001042492.3(NF1):c.3975-8T>C
|
rs1470107394
|
|
NM_001042492.3(NF1):c.3975G>T (p.Arg1325Ser)
|
rs1597734999
|
|
NM_001042492.3(NF1):c.3978A>T (p.Leu1326Phe)
|
rs876660506
|
|
NM_001042492.3(NF1):c.397G>A (p.Glu133Lys)
|
rs2065794225
|
|
NM_001042492.3(NF1):c.3980A>G (p.Glu1327Gly)
|
rs2067447715
|
|
NM_001042492.3(NF1):c.3982C>T (p.Pro1328Ser)
|
rs2151451297
|
|
NM_001042492.3(NF1):c.3986C>T (p.Ser1329Leu)
|
rs1060500319
|
|
NM_001042492.3(NF1):c.3988G>A (p.Glu1330Lys)
|
rs1483311407
|
|
NM_001042492.3(NF1):c.3989A>G (p.Glu1330Gly)
|
rs1256727206
|
|
NM_001042492.3(NF1):c.3991A>G (p.Ser1331Gly)
|
rs1411796317
|
|
NM_001042492.3(NF1):c.3992G>A (p.Ser1331Asn)
|
rs1567858266
|
|
NM_001042492.3(NF1):c.3992G>C (p.Ser1331Thr)
|
rs1567858266
|
|
NM_001042492.3(NF1):c.3993C>G (p.Ser1331Arg)
|
rs2067448156
|
|
NM_001042492.3(NF1):c.3995T>C (p.Leu1332Pro)
|
|
|
NM_001042492.3(NF1):c.3997G>A (p.Glu1333Lys)
|
rs2151451342
|
|
NM_001042492.3(NF1):c.3998A>G (p.Glu1333Gly)
|
rs200618072
|
|
NM_001042492.3(NF1):c.4000G>A (p.Glu1334Lys)
|
rs878853892
|
|
NM_001042492.3(NF1):c.4003A>T (p.Asn1335Tyr)
|
|
|
NM_001042492.3(NF1):c.4004A>C (p.Asn1335Thr)
|
rs1555617304
|
|
NM_001042492.3(NF1):c.4004A>G (p.Asn1335Ser)
|
rs1555617304
|
|
NM_001042492.3(NF1):c.4005C>G (p.Asn1335Lys)
|
rs2067448469
|
|
NM_001042492.3(NF1):c.4007A>C (p.Gln1336Pro)
|
rs1597735043
|
|
NM_001042492.3(NF1):c.4008G>C (p.Gln1336His)
|
|
|
NM_001042492.3(NF1):c.4008G>T (p.Gln1336His)
|
rs2067448530
|
|
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.4012A>C (p.Asn1338His)
|
rs864622202
|
|
NM_001042492.3(NF1):c.4014C>A (p.Asn1338Lys)
|
|
|
NM_001042492.3(NF1):c.4014CCT[1] (p.Leu1340del)
|
rs863224834
|
|
NM_001042492.3(NF1):c.4015C>G (p.Leu1339Val)
|
rs876660466
|
|
NM_001042492.3(NF1):c.4015C>T (p.Leu1339Phe)
|
rs876660466
|
|
NM_001042492.3(NF1):c.4016T>C (p.Leu1339Pro)
|
rs1567858306
|
|
NM_001042492.3(NF1):c.4018C>G (p.Leu1340Val)
|
|
|
NM_001042492.3(NF1):c.4018C>T (p.Leu1340Phe)
|
rs876658268
|
|
NM_001042492.3(NF1):c.4022A>G (p.Gln1341Arg)
|
rs1555617325
|
|
NM_001042492.3(NF1):c.4022A>T (p.Gln1341Leu)
|
rs1555617325
|
|
NM_001042492.3(NF1):c.4023G>C (p.Gln1341His)
|
|
|
NM_001042492.3(NF1):c.4025T>C (p.Met1342Thr)
|
rs1326621088
|
|
NM_001042492.3(NF1):c.4026G>A (p.Met1342Ile)
|
rs2067449278
|
|
NM_001042492.3(NF1):c.4028C>G (p.Thr1343Ser)
|
rs2151451433
|
|
NM_001042492.3(NF1):c.4029_4030insTTT (p.Thr1343_Glu1344insPhe)
|
|
|
NM_001042492.3(NF1):c.4030G>A (p.Glu1344Lys)
|
|
|
NM_001042492.3(NF1):c.4034A>G (p.Lys1345Arg)
|
|
|
NM_001042492.3(NF1):c.4035G>C (p.Lys1345Asn)
|
|
|
NM_001042492.3(NF1):c.4036T>A (p.Phe1346Ile)
|
rs2151451451
|
|
NM_001042492.3(NF1):c.4038C>A (p.Phe1346Leu)
|
rs2067449447
|
|
NM_001042492.3(NF1):c.403_405del (p.Arg135del)
|
rs1597635919
|
|
NM_001042492.3(NF1):c.4041C>A (p.Phe1347Leu)
|
|
|
NM_001042492.3(NF1):c.4043A>C (p.His1348Pro)
|
|
|
NM_001042492.3(NF1):c.4043A>G (p.His1348Arg)
|
rs786201844
|
|
NM_001042492.3(NF1):c.4043A>T (p.His1348Leu)
|
rs786201844
|
|
NM_001042492.3(NF1):c.4044T>A (p.His1348Gln)
|
rs1315375188
|
|
NM_001042492.3(NF1):c.4045G>A (p.Ala1349Thr)
|
rs1555617332
|
|
NM_001042492.3(NF1):c.4045G>T (p.Ala1349Ser)
|
rs1555617332
|
|
NM_001042492.3(NF1):c.4046C>T (p.Ala1349Val)
|
rs1229215269
|
|
NM_001042492.3(NF1):c.4048A>G (p.Ile1350Val)
|
rs1567858357
|
|
NM_001042492.3(NF1):c.4049T>A (p.Ile1350Asn)
|
|
|
NM_001042492.3(NF1):c.4049T>C (p.Ile1350Thr)
|
|
|
NM_001042492.3(NF1):c.404G>T (p.Arg135Leu)
|
rs1060500244
|
|
NM_001042492.3(NF1):c.4051A>C (p.Ile1351Leu)
|
rs1233135542
|
|
NM_001042492.3(NF1):c.4051A>T (p.Ile1351Phe)
|
|
|
NM_001042492.3(NF1):c.4052T>A (p.Ile1351Asn)
|
|
|
NM_001042492.3(NF1):c.4054A>C (p.Ser1352Arg)
|
|
|
NM_001042492.3(NF1):c.4054A>T (p.Ser1352Cys)
|
rs1337343400
|
|
NM_001042492.3(NF1):c.4055G>T (p.Ser1352Ile)
|
rs876660908
|
|
NM_001042492.3(NF1):c.4058C>T (p.Ser1353Phe)
|
rs1555617346
|
|
NM_001042492.3(NF1):c.4060T>A (p.Ser1354Thr)
|
|
|
NM_001042492.3(NF1):c.4061C>A (p.Ser1354Tyr)
|
rs1555617348
|
|
NM_001042492.3(NF1):c.4061C>T (p.Ser1354Phe)
|
rs1555617348
|
|
NM_001042492.3(NF1):c.4064C>T (p.Ser1355Leu)
|
rs1131691087
|
|
NM_001042492.3(NF1):c.4067A>C (p.Glu1356Ala)
|
|
|
NM_001042492.3(NF1):c.4069T>A (p.Phe1357Ile)
|
rs1207255352
|
|
NM_001042492.3(NF1):c.4069T>C (p.Phe1357Leu)
|
rs1207255352
|
|
NM_001042492.3(NF1):c.4069T>G (p.Phe1357Val)
|
|
|
NM_001042492.3(NF1):c.4071C>A (p.Phe1357Leu)
|
|
|
NM_001042492.3(NF1):c.4071C>G (p.Phe1357Leu)
|
rs747272290
|
|
NM_001042492.3(NF1):c.4072C>A (p.Pro1358Thr)
|
|
|
NM_001042492.3(NF1):c.4072C>G (p.Pro1358Ala)
|
rs1555617359
|
|
NM_001042492.3(NF1):c.4072C>T (p.Pro1358Ser)
|
rs1555617359
|
|
NM_001042492.3(NF1):c.4073C>T (p.Pro1358Leu)
|
rs2067450726
|
|
NM_001042492.3(NF1):c.4074_4075delinsAA (p.Pro1359Thr)
|
rs1555617362
|
|
NM_001042492.3(NF1):c.4075C>A (p.Pro1359Thr)
|
rs745931495
|
|
NM_001042492.3(NF1):c.4075C>T (p.Pro1359Ser)
|
|
|
NM_001042492.3(NF1):c.4081C>A (p.Leu1361Ile)
|
|
|
NM_001042492.3(NF1):c.4081C>T (p.Leu1361Phe)
|
|
|
NM_001042492.3(NF1):c.4082T>G (p.Leu1361Arg)
|
|
|
NM_001042492.3(NF1):c.4084C>G (p.Arg1362Gly)
|
|
|
NM_001042492.3(NF1):c.4085G>A (p.Arg1362Gln)
|
rs540108477
|
|
NM_001042492.3(NF1):c.4085G>T (p.Arg1362Leu)
|
rs540108477
|
|
NM_001042492.3(NF1):c.4090G>A (p.Val1364Met)
|
rs749748720
|
|
NM_001042492.3(NF1):c.4093T>C (p.Cys1365Arg)
|
rs1364158639
|
|
NM_001042492.3(NF1):c.4095C>T (p.Cys1365=)
|
rs1060503922
|
|
NM_001042492.3(NF1):c.4096C>T (p.His1366Tyr)
|
|
|
NM_001042492.3(NF1):c.4097A>G (p.His1366Arg)
|
rs769042915
|
|
NM_001042492.3(NF1):c.4099T>C (p.Cys1367Arg)
|
rs2151451647
|
|
NM_001042492.3(NF1):c.4100G>A (p.Cys1367Tyr)
|
rs2151451650
|
|
NM_001042492.3(NF1):c.4103T>C (p.Leu1368Ser)
|
rs1597735265
|
|
NM_001042492.3(NF1):c.4105T>C (p.Tyr1369His)
|
|
|
NM_001042492.3(NF1):c.4109A>C (p.Gln1370Pro)
|
rs1135402853
|
|
NM_001042492.3(NF1):c.410C>T (p.Ser137Phe)
|
rs1597635932
|
|
NM_001042492.3(NF1):c.4110+13T>G
|
|
|
NM_001042492.3(NF1):c.4110+3A>C
|
rs774669878
|
|
NM_001042492.3(NF1):c.4110+4T>A
|
rs587781700
|
|
NM_001042492.3(NF1):c.4110+4T>G
|
rs587781700
|
|
NM_001042492.3(NF1):c.4110+5_4110+8del
|
rs2067451835
|
|
NM_001042492.3(NF1):c.4110+6C>T
|
rs2067451891
|
|
NM_001042492.3(NF1):c.4110G>A (p.Gln1370=)
|
rs1135402854
|
|
NM_001042492.3(NF1):c.4110G>C (p.Gln1370His)
|
rs1135402854
|
|
NM_001042492.3(NF1):c.4118G>C (p.Cys1373Ser)
|
|
|
NM_001042492.3(NF1):c.412G>A (p.Ala138Thr)
|
rs1597635936
|
|
NM_001042492.3(NF1):c.4138G>C (p.Ala1380Pro)
|
rs876658191
|
|
NM_001042492.3(NF1):c.413C>T (p.Ala138Val)
|
rs1597635942
|
|
NM_001042492.3(NF1):c.415T>A (p.Ser139Thr)
|
rs1555606096
|
|
NM_001042492.3(NF1):c.415T>C (p.Ser139Pro)
|
rs1555606096
|
|
NM_001042492.3(NF1):c.415T>G (p.Ser139Ala)
|
rs1555606096
|
|
NM_001042492.3(NF1):c.4169A>G (p.Lys1390Arg)
|
|
|
NM_001042492.3(NF1):c.416C>G (p.Ser139Cys)
|
rs1262333812
|
|
NM_001042492.3(NF1):c.416C>T (p.Ser139Phe)
|
rs1262333812
|
|
NM_001042492.3(NF1):c.4174-15A>G
|
|
|
NM_001042492.3(NF1):c.4174-17_4174-16insCTTGTTTTTAGGTGGTTAGCCTAAA
|
rs2151461675
|
|
NM_001042492.3(NF1):c.4174-22A>G
|
|
|
NM_001042492.3(NF1):c.4174-3T>C
|
rs786202602
|
|
NM_001042492.3(NF1):c.4174G>A (p.Val1392Met)
|
rs1597744525
|
|
NM_001042492.3(NF1):c.4174G>T (p.Val1392Leu)
|
rs1597744525
|
|
NM_001042492.3(NF1):c.4177G>A (p.Val1393Ile)
|
|
|
NM_001042492.3(NF1):c.4178T>G (p.Val1393Gly)
|
rs769555730
|
|
NM_001042492.3(NF1):c.4181G>A (p.Ser1394Asn)
|
|
|
NM_001042492.3(NF1):c.4183C>G (p.Gln1395Glu)
|
|
|
NM_001042492.3(NF1):c.4184A>G (p.Gln1395Arg)
|
rs2151461782
|
|
NM_001042492.3(NF1):c.4186C>T (p.Arg1396Cys)
|
rs1555618495
|
|
NM_001042492.3(NF1):c.418G>A (p.Gly140Arg)
|
rs2065794781
|
|
NM_001042492.3(NF1):c.4191C>A (p.Phe1397Leu)
|
rs1555618498
|
|
NM_001042492.3(NF1):c.4191C>G (p.Phe1397Leu)
|
|
|
NM_001042492.3(NF1):c.4192C>T (p.Pro1398Ser)
|
|
|
NM_001042492.3(NF1):c.4193C>T (p.Pro1398Leu)
|
rs864622299
|
|
NM_001042492.3(NF1):c.4196A>G (p.Gln1399Arg)
|
|
|
NM_001042492.3(NF1):c.4197G>C (p.Gln1399His)
|
rs1355988609
|
|
NM_001042492.3(NF1):c.4197G>T (p.Gln1399His)
|
rs1355988609
|
|
NM_001042492.3(NF1):c.4198A>G (p.Asn1400Asp)
|
|
|
NM_001042492.3(NF1):c.4199A>G (p.Asn1400Ser)
|
|
|
NM_001042492.3(NF1):c.419G>A (p.Gly140Glu)
|
|
|
NM_001042492.3(NF1):c.4200C>G (p.Asn1400Lys)
|
|
|
NM_001042492.3(NF1):c.4200C>T (p.Asn1400=)
|
rs2151461842
|
|
NM_001042492.3(NF1):c.4201A>G (p.Ser1401Gly)
|
rs1060500310
|
|
NM_001042492.3(NF1):c.4202G>A (p.Ser1401Asn)
|
rs1060500249
|
|
NM_001042492.3(NF1):c.4202G>C (p.Ser1401Thr)
|
rs1060500249
|
|
NM_001042492.3(NF1):c.4202G>T (p.Ser1401Ile)
|
rs1060500249
|
|
NM_001042492.3(NF1):c.4204A>T (p.Ile1402Phe)
|
|
|
NM_001042492.3(NF1):c.4206C>G (p.Ile1402Met)
|
rs864622406
|
|
NM_001042492.3(NF1):c.4207G>C (p.Gly1403Arg)
|
rs138227618
|
|
NM_001042492.3(NF1):c.4207G>T (p.Gly1403Cys)
|
|
|
NM_001042492.3(NF1):c.4208G>A (p.Gly1403Asp)
|
|
|
NM_001042492.3(NF1):c.4208G>C (p.Gly1403Ala)
|
|
|
NM_001042492.3(NF1):c.4210G>T (p.Ala1404Ser)
|
|
|
NM_001042492.3(NF1):c.4211C>T (p.Ala1404Val)
|
rs1060500257
|
|
NM_001042492.3(NF1):c.4211_4213dup (p.Ala1404dup)
|
rs2067621081
|
|
NM_001042492.3(NF1):c.4213_4242dup (p.Ile1414_Asn1415insValGlySerAlaMetPheLeuArgPheIle)
|
|
|
NM_001042492.3(NF1):c.4214T>C (p.Val1405Ala)
|
rs1186560791
|
|
NM_001042492.3(NF1):c.4217G>T (p.Gly1406Val)
|
rs1555618505
|
|
NM_001042492.3(NF1):c.4219A>C (p.Ser1407Arg)
|
|
|
NM_001042492.3(NF1):c.4219A>G (p.Ser1407Gly)
|
rs587781755
|
|
NM_001042492.3(NF1):c.421G>A (p.Val141Ile)
|
rs2143672914
|
|
NM_001042492.3(NF1):c.4221T>A (p.Ser1407Arg)
|
|
|
NM_001042492.3(NF1):c.4221T>G (p.Ser1407Arg)
|
rs2067621366
|
|
NM_001042492.3(NF1):c.4223C>A (p.Ala1408Asp)
|
rs2151461922
|
|
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.4227G>A (p.Met1409Ile)
|
rs786201895
|
|
NM_001042492.3(NF1):c.4227G>C (p.Met1409Ile)
|
rs786201895
|
|
NM_001042492.3(NF1):c.4227G>T (p.Met1409Ile)
|
|
|
NM_001042492.3(NF1):c.4228T>A (p.Phe1410Ile)
|
rs2151461937
|
|
NM_001042492.3(NF1):c.4228T>G (p.Phe1410Val)
|
rs2151461937
|
|
NM_001042492.3(NF1):c.4230C>A (p.Phe1410Leu)
|
|
|
NM_001042492.3(NF1):c.4230C>G (p.Phe1410Leu)
|
rs750213850
|
|
NM_001042492.3(NF1):c.4235G>C (p.Arg1412Thr)
|
rs1555618516
|
|
NM_001042492.3(NF1):c.4237T>C (p.Phe1413Leu)
|
rs1190777334
|
|
NM_001042492.3(NF1):c.4239T>G (p.Phe1413Leu)
|
rs1597744644
|
|
NM_001042492.3(NF1):c.4240A>G (p.Ile1414Val)
|
rs2151461966
|
|
NM_001042492.3(NF1):c.4241T>G (p.Ile1414Ser)
|
rs2151461968
|
|
NM_001042492.3(NF1):c.4243A>C (p.Asn1415His)
|
rs1555618518
|
|
NM_001042492.3(NF1):c.4243A>G (p.Asn1415Asp)
|
rs1555618518
|
|
NM_001042492.3(NF1):c.4246C>G (p.Pro1416Ala)
|
rs2151461990
|
|
NM_001042492.3(NF1):c.4247C>A (p.Pro1416His)
|
rs1555618521
|
|
NM_001042492.3(NF1):c.4247C>G (p.Pro1416Arg)
|
rs1555618521
|
|
NM_001042492.3(NF1):c.4247C>T (p.Pro1416Leu)
|
rs1555618521
|
|
NM_001042492.3(NF1):c.4247_4248delinsTC (p.Pro1416Leu)
|
rs2151461995
|
|
NM_001042492.3(NF1):c.4249G>T (p.Ala1417Ser)
|
rs587781941
|
|
NM_001042492.3(NF1):c.4250C>T (p.Ala1417Val)
|
|
|
NM_001042492.3(NF1):c.4252_4253insCAA (p.Ala1417_Ile1418insThr)
|
rs1783538929
|
|
NM_001042492.3(NF1):c.4252_4254del (p.Ile1418del)
|
rs1597744672
|
|
NM_001042492.3(NF1):c.4253T>C (p.Ile1418Thr)
|
|
|
NM_001042492.3(NF1):c.4254T>A (p.Ile1418=)
|
|
|
NM_001042492.3(NF1):c.4255G>A (p.Val1419Ile)
|
rs2067622413
|
|
NM_001042492.3(NF1):c.4256T>C (p.Val1419Ala)
|
|
|
NM_001042492.3(NF1):c.4256T>G (p.Val1419Gly)
|
|
|
NM_001042492.3(NF1):c.4258T>C (p.Ser1420Pro)
|
rs1555618533
|
|
NM_001042492.3(NF1):c.4261C>G (p.Pro1421Ala)
|
rs1347152182
|
|
NM_001042492.3(NF1):c.4261C>T (p.Pro1421Ser)
|
rs1347152182
|
|
NM_001042492.3(NF1):c.4262C>G (p.Pro1421Arg)
|
rs753997885
|
|
NM_001042492.3(NF1):c.4264T>A (p.Tyr1422Asn)
|
|
|
NM_001042492.3(NF1):c.4264T>C (p.Tyr1422His)
|
rs17884349
|
|
NM_001042492.3(NF1):c.4265A>G (p.Tyr1422Cys)
|
rs1555618544
|
|
NM_001042492.3(NF1):c.4267G>A (p.Glu1423Lys)
|
rs2067622976
|
|
NM_001042492.3(NF1):c.426_437del (p.Leu142_Ser146delinsPhe)
|
rs2143673002
|
|
NM_001042492.3(NF1):c.4271C>A (p.Ala1424Glu)
|
rs2067623060
|
|
NM_001042492.3(NF1):c.4274G>A (p.Gly1425Glu)
|
rs1555618547
|
|
NM_001042492.3(NF1):c.4275G>T (p.Gly1425=)
|
|
|
NM_001042492.3(NF1):c.4277T>C (p.Ile1426Thr)
|
rs1555618549
|
|
NM_001042492.3(NF1):c.427T>A (p.Phe143Ile)
|
|
|
NM_001042492.3(NF1):c.427T>C (p.Phe143Leu)
|
rs2065794956
|
|
NM_001042492.3(NF1):c.4282G>T (p.Asp1428Tyr)
|
rs2151462089
|
|
NM_001042492.3(NF1):c.4284T>A (p.Asp1428Glu)
|
|
|
NM_001042492.3(NF1):c.4288A>C (p.Lys1430Gln)
|
rs2151462099
|
|
NM_001042492.3(NF1):c.4288A>G (p.Lys1430Glu)
|
|
|
NM_001042492.3(NF1):c.4289A>G (p.Lys1430Arg)
|
|
|
NM_001042492.3(NF1):c.4290G>C (p.Lys1430Asn)
|
|
|
NM_001042492.3(NF1):c.4290G>T (p.Lys1430Asn)
|
rs373086572
|
|
NM_001042492.3(NF1):c.4290_4291delinsCT (p.Lys1430_Pro1431delinsAsnSer)
|
rs1567862024
|
|
NM_001042492.3(NF1):c.4291C>T (p.Pro1431Ser)
|
|
|
NM_001042492.3(NF1):c.4292C>T (p.Pro1431Leu)
|
rs2067623603
|
|
NM_001042492.3(NF1):c.4294C>T (p.Pro1432Ser)
|
rs1597744750
|
|
NM_001042492.3(NF1):c.4295C>T (p.Pro1432Leu)
|
rs1597744755
|
|
NM_001042492.3(NF1):c.4298C>A (p.Pro1433His)
|
|
|
NM_001042492.3(NF1):c.4298C>G (p.Pro1433Arg)
|
rs1310048288
|
|
NM_001042492.3(NF1):c.4298C>T (p.Pro1433Leu)
|
|
|
NM_001042492.3(NF1):c.4300A>G (p.Arg1434Gly)
|
rs2067623934
|
|
NM_001042492.3(NF1):c.4301G>A (p.Arg1434Lys)
|
rs1597744780
|
|
NM_001042492.3(NF1):c.4301G>T (p.Arg1434Ile)
|
rs1597744780
|
|
NM_001042492.3(NF1):c.4303A>T (p.Ile1435Phe)
|
|
|
NM_001042492.3(NF1):c.4305C>G (p.Ile1435Met)
|
|
|
NM_001042492.3(NF1):c.4306G>C (p.Glu1436Gln)
|
rs876660428
|
|
NM_001042492.3(NF1):c.4307A>T (p.Glu1436Val)
|
|
|
NM_001042492.3(NF1):c.4309A>T (p.Arg1437Trp)
|
rs1555618558
|
|
NM_001042492.3(NF1):c.4310G>A (p.Arg1437Lys)
|
rs1567862061
|
|
NM_001042492.3(NF1):c.4312G>A (p.Gly1438Ser)
|
rs1555618559
|
|
NM_001042492.3(NF1):c.4312G>T (p.Gly1438Cys)
|
rs1555618559
|
|
NM_001042492.3(NF1):c.4313G>A (p.Gly1438Asp)
|
|
|
NM_001042492.3(NF1):c.4313G>C (p.Gly1438Ala)
|
rs748901190
|
|
NM_001042492.3(NF1):c.4313G>T (p.Gly1438Val)
|
rs748901190
|
|
NM_001042492.3(NF1):c.4315T>A (p.Leu1439Met)
|
rs1555618562
|
|
NM_001042492.3(NF1):c.4316T>C (p.Leu1439Ser)
|
rs1567862071
|
|
NM_001042492.3(NF1):c.4316T>G (p.Leu1439Trp)
|
rs1567862071
|
|
NM_001042492.3(NF1):c.4319A>G (p.Lys1440Arg)
|
rs199474788
|
|
NM_001042492.3(NF1):c.431C>T (p.Ser144Phe)
|
rs2065795028
|
|
NM_001042492.3(NF1):c.4321T>A (p.Leu1441Ile)
|
rs786201458
|
|
NM_001042492.3(NF1):c.4322T>C (p.Leu1441Ser)
|
|
|
NM_001042492.3(NF1):c.4324A>G (p.Met1442Val)
|
|
|
NM_001042492.3(NF1):c.4325T>G (p.Met1442Arg)
|
rs1131691097
|
|
NM_001042492.3(NF1):c.4328C>T (p.Ser1443Leu)
|
rs1555618566
|
|
NM_001042492.3(NF1):c.4331A>T (p.Lys1444Met)
|
rs199474781
|
|
NM_001042492.3(NF1):c.4332+22_4332+25del
|
rs768273651
|
|
NM_001042492.3(NF1):c.4333-13_4333-4delinsAACAGGGTTATAAATA
|
|
|
NM_001042492.3(NF1):c.4333-230A>G
|
|
|
NM_001042492.3(NF1):c.4333-2dup
|
|
|
NM_001042492.3(NF1):c.4333-3T>C
|
rs1597745535
|
|
NM_001042492.3(NF1):c.4333-5T>G
|
rs1455774859
|
|
NM_001042492.3(NF1):c.4333A>C (p.Ile1445Leu)
|
rs1555618637
|
|
NM_001042492.3(NF1):c.4333A>G (p.Ile1445Val)
|
|
|
NM_001042492.3(NF1):c.4333A>T (p.Ile1445Leu)
|
rs1555618637
|
|
NM_001042492.3(NF1):c.4334T>C (p.Ile1445Thr)
|
|
|
NM_001042492.3(NF1):c.4334T>G (p.Ile1445Arg)
|
rs1597745565
|
|
NM_001042492.3(NF1):c.4336C>G (p.Leu1446Val)
|
rs1555618639
|
|
NM_001042492.3(NF1):c.4336C>T (p.Leu1446Phe)
|
rs1555618639
|
|
NM_001042492.3(NF1):c.4337T>C (p.Leu1446Pro)
|
rs199474733
|
|
NM_001042492.3(NF1):c.433C>G (p.Leu145Val)
|
rs786203460
|
|
NM_001042492.3(NF1):c.433C>T (p.Leu145Phe)
|
rs786203460
|
|
NM_001042492.3(NF1):c.4344T>G (p.Ser1448Arg)
|
rs1555618644
|
|
NM_001042492.3(NF1):c.4346T>G (p.Ile1449Ser)
|
|
|
NM_001042492.3(NF1):c.4348G>T (p.Ala1450Ser)
|
|
|
NM_001042492.3(NF1):c.4349C>A (p.Ala1450Asp)
|
rs2067636212
|
|
NM_001042492.3(NF1):c.4349C>T (p.Ala1450Val)
|
rs2067636212
|
|
NM_001042492.3(NF1):c.434T>A (p.Leu145His)
|
rs199474734
|
|
NM_001042492.3(NF1):c.4351A>T (p.Asn1451Tyr)
|
|
|
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.4355A>C (p.His1452Pro)
|
|
|
NM_001042492.3(NF1):c.4355A>G (p.His1452Arg)
|
rs1567862291
|
|
NM_001042492.3(NF1):c.4357G>C (p.Val1453Leu)
|
rs199474755
|
|
NM_001042492.3(NF1):c.4357G>T (p.Val1453Phe)
|
rs199474755
|
|
NM_001042492.3(NF1):c.4358T>C (p.Val1453Ala)
|
rs1306807858
|
|
NM_001042492.3(NF1):c.4360C>G (p.Leu1454Val)
|
rs1408832954
|
|
NM_001042492.3(NF1):c.4360C>T (p.Leu1454Phe)
|
rs1408832954
|
|
NM_001042492.3(NF1):c.4361T>C (p.Leu1454Pro)
|
rs2067636896
|
|
NM_001042492.3(NF1):c.4367C>T (p.Thr1456Ile)
|
|
|
NM_001042492.3(NF1):c.4369_4371del (p.Lys1457del)
|
rs1555618653
|
|
NM_001042492.3(NF1):c.436A>G (p.Ser146Gly)
|
rs2143673178
|
|
NM_001042492.3(NF1):c.4370A>T (p.Lys1457Ile)
|
|
|
NM_001042492.3(NF1):c.4372G>C (p.Glu1458Gln)
|
|
|
NM_001042492.3(NF1):c.4373A>T (p.Glu1458Val)
|
|
|
NM_001042492.3(NF1):c.4374A>T (p.Glu1458Asp)
|
|
|
NM_001042492.3(NF1):c.4375G>C (p.Glu1459Gln)
|
rs1597745663
|
|
NM_001042492.3(NF1):c.4378C>A (p.His1460Asn)
|
rs377295676
|
|
NM_001042492.3(NF1):c.4378C>T (p.His1460Tyr)
|
rs377295676
|
|
NM_001042492.3(NF1):c.4379A>G (p.His1460Arg)
|
rs748990989
|
|
NM_001042492.3(NF1):c.4379A>T (p.His1460Leu)
|
rs748990989
|
|
NM_001042492.3(NF1):c.4381A>C (p.Met1461Leu)
|
|
|
NM_001042492.3(NF1):c.4381A>G (p.Met1461Val)
|
rs1555618675
|
|
NM_001042492.3(NF1):c.4381A>T (p.Met1461Leu)
|
rs1555618675
|
|
NM_001042492.3(NF1):c.4382T>G (p.Met1461Arg)
|
rs754639587
|
|
NM_001042492.3(NF1):c.4383G>A (p.Met1461Ile)
|
rs1555618677
|
|
NM_001042492.3(NF1):c.4387C>A (p.Pro1463Thr)
|
rs1597745703
|
|
NM_001042492.3(NF1):c.4387C>T (p.Pro1463Ser)
|
|
|
NM_001042492.3(NF1):c.438C>A (p.Ser146Arg)
|
|
|
NM_001042492.3(NF1):c.4390T>C (p.Phe1464Leu)
|
rs2067638875
|
|
NM_001042492.3(NF1):c.4391T>C (p.Phe1464Ser)
|
|
|
NM_001042492.3(NF1):c.4394A>G (p.Asn1465Ser)
|
rs786202492
|
|
NM_001042492.3(NF1):c.4395T>G (p.Asn1465Lys)
|
|
|
NM_001042492.3(NF1):c.4396G>T (p.Asp1466Tyr)
|
rs878853895
|
|
NM_001042492.3(NF1):c.4398T>G (p.Asp1466Glu)
|
rs2151463134
|
|
NM_001042492.3(NF1):c.439T>C (p.Cys147Arg)
|
rs1555606104
|
|
NM_001042492.3(NF1):c.439_468dup (p.Cys147_Arg156dup)
|
rs2143673214
|
|
NM_001042492.3(NF1):c.4400T>C (p.Phe1467Ser)
|
|
|
NM_001042492.3(NF1):c.4400T>G (p.Phe1467Cys)
|
rs1555618685
|
|
NM_001042492.3(NF1):c.4402G>A (p.Val1468Met)
|
rs876660320
|
|
NM_001042492.3(NF1):c.4405A>G (p.Lys1469Glu)
|
|
|
NM_001042492.3(NF1):c.4411_4416del (p.Asn1471_Phe1472del)
|
rs2151463175
|
|
NM_001042492.3(NF1):c.4412A>C (p.Asn1471Thr)
|
rs876658250
|
|
NM_001042492.3(NF1):c.4412A>G (p.Asn1471Ser)
|
rs876658250
|
|
NM_001042492.3(NF1):c.4415T>C (p.Phe1472Ser)
|
|
|
NM_001042492.3(NF1):c.4415T>G (p.Phe1472Cys)
|
rs1597745737
|
|
NM_001042492.3(NF1):c.4424C>G (p.Ala1475Gly)
|
|
|
NM_001042492.3(NF1):c.4424C>T (p.Ala1475Val)
|
rs2151463210
|
|
NM_001042492.3(NF1):c.4427G>A (p.Arg1476His)
|
rs1555618691
|
|
NM_001042492.3(NF1):c.4427G>T (p.Arg1476Leu)
|
rs1555618691
|
|
NM_001042492.3(NF1):c.4428C>T (p.Arg1476=)
|
rs2067640114
|
|
NM_001042492.3(NF1):c.4429A>G (p.Arg1477Gly)
|
rs2067640173
|
|
NM_001042492.3(NF1):c.4430+14del
|
rs774927748
|
|
NM_001042492.3(NF1):c.4430+1G>A
|
rs773151680
|
|
NM_001042492.3(NF1):c.4430+20C>G
|
rs2151463278
|
|
NM_001042492.3(NF1):c.4430+2dup
|
|
|
NM_001042492.3(NF1):c.4430+4A>C
|
|
|
NM_001042492.3(NF1):c.4430+6T>A
|
rs1567862378
|
|
NM_001042492.3(NF1):c.4430G>A (p.Arg1477Lys)
|
rs1060500293
|
|
NM_001042492.3(NF1):c.4430G>C (p.Arg1477Thr)
|
rs1060500293
|
|
NM_001042492.3(NF1):c.4431-14_4431-13del
|
|
|
NM_001042492.3(NF1):c.4431G>A (p.Arg1477=)
|
rs181462219
|
|
NM_001042492.3(NF1):c.4431G>T (p.Arg1477Ser)
|
rs181462219
|
|
NM_001042492.3(NF1):c.4432T>C (p.Phe1478Leu)
|
|
|
NM_001042492.3(NF1):c.4432T>G (p.Phe1478Val)
|
rs1555618802
|
|
NM_001042492.3(NF1):c.4433T>A (p.Phe1478Tyr)
|
|
|
NM_001042492.3(NF1):c.4433T>G (p.Phe1478Cys)
|
rs1597746900
|
|
NM_001042492.3(NF1):c.4435T>C (p.Phe1479Leu)
|
|
|
NM_001042492.3(NF1):c.4436T>C (p.Phe1479Ser)
|
rs2067662458
|
|
NM_001042492.3(NF1):c.4437C>A (p.Phe1479Leu)
|
rs757953485
|
|
NM_001042492.3(NF1):c.4437C>G (p.Phe1479Leu)
|
rs757953485
|
|
NM_001042492.3(NF1):c.4442A>G (p.Asp1481Gly)
|
rs777229737
|
|
NM_001042492.3(NF1):c.4444A>G (p.Ile1482Val)
|
rs1060500362
|
|
NM_001042492.3(NF1):c.4445T>A (p.Ile1482Lys)
|
|
|
NM_001042492.3(NF1):c.4445T>G (p.Ile1482Arg)
|
rs746994734
|
|
NM_001042492.3(NF1):c.4447G>A (p.Ala1483Thr)
|
rs1555618808
|
|
NM_001042492.3(NF1):c.4447G>C (p.Ala1483Pro)
|
|
|
NM_001042492.3(NF1):c.4447G>T (p.Ala1483Ser)
|
rs1555618808
|
|
NM_001042492.3(NF1):c.4448C>G (p.Ala1483Gly)
|
rs564989006
|
|
NM_001042492.3(NF1):c.4450T>A (p.Ser1484Thr)
|
|
|
NM_001042492.3(NF1):c.4450T>C (p.Ser1484Pro)
|
rs2067662922
|
|
NM_001042492.3(NF1):c.4453G>T (p.Asp1485Tyr)
|
rs2067662991
|
|
NM_001042492.3(NF1):c.4454A>G (p.Asp1485Gly)
|
rs1279391103
|
|
NM_001042492.3(NF1):c.4455T>G (p.Asp1485Glu)
|
|
|
NM_001042492.3(NF1):c.4456T>A (p.Cys1486Ser)
|
|
|
NM_001042492.3(NF1):c.4456T>C (p.Cys1486Arg)
|
|
|
NM_001042492.3(NF1):c.4457G>A (p.Cys1486Tyr)
|
|
|
NM_001042492.3(NF1):c.4459C>T (p.Pro1487Ser)
|
rs1265291141
|
|
NM_001042492.3(NF1):c.445A>G (p.Asn149Asp)
|
rs750974024
|
|
NM_001042492.3(NF1):c.4462A>C (p.Thr1488Pro)
|
rs876660162
|
|
NM_001042492.3(NF1):c.4462A>G (p.Thr1488Ala)
|
rs876660162
|
|
NM_001042492.3(NF1):c.4463C>T (p.Thr1488Ile)
|
rs1597746958
|
|
NM_001042492.3(NF1):c.4466G>A (p.Ser1489Asn)
|
rs2067663434
|
|
NM_001042492.3(NF1):c.4469A>G (p.Asp1490Gly)
|
rs2067663471
|
|
NM_001042492.3(NF1):c.446A>C (p.Asn149Thr)
|
rs2143673370
|
|
NM_001042492.3(NF1):c.446A>G (p.Asn149Ser)
|
rs2143673370
|
|
NM_001042492.3(NF1):c.4470T>A (p.Asp1490Glu)
|
rs745678532
|
|
NM_001042492.3(NF1):c.4471G>A (p.Ala1491Thr)
|
rs2067663552
|
|
NM_001042492.3(NF1):c.4472C>T (p.Ala1491Val)
|
rs876658334
|
|
NM_001042492.3(NF1):c.4475T>C (p.Val1492Ala)
|
rs2067663652
|
|
NM_001042492.3(NF1):c.4478A>G (p.Asn1493Ser)
|
rs1597746976
|
|
NM_001042492.3(NF1):c.4481A>G (p.His1494Arg)
|
rs769417700
|
|
NM_001042492.3(NF1):c.4481A>T (p.His1494Leu)
|
rs769417700
|
|
NM_001042492.3(NF1):c.4486C>A (p.Leu1496Ile)
|
|
|
NM_001042492.3(NF1):c.4486C>G (p.Leu1496Val)
|
|
|
NM_001042492.3(NF1):c.4486C>T (p.Leu1496Phe)
|
rs1555618823
|
|
NM_001042492.3(NF1):c.448T>G (p.Phe150Val)
|
|
|
NM_001042492.3(NF1):c.4490C>A (p.Ser1497Tyr)
|
|
|
NM_001042492.3(NF1):c.4490C>T (p.Ser1497Phe)
|
rs1597746999
|
|
NM_001042492.3(NF1):c.4495A>C (p.Ile1499Leu)
|
rs764654925
|
|
NM_001042492.3(NF1):c.4495A>T (p.Ile1499Leu)
|
rs764654925
|
|
NM_001042492.3(NF1):c.4498A>G (p.Ser1500Gly)
|
rs1135402862
|
|
NM_001042492.3(NF1):c.4499G>C (p.Ser1500Thr)
|
rs1555618829
|
|
NM_001042492.3(NF1):c.4501G>A (p.Asp1501Asn)
|
rs2067664389
|
|
NM_001042492.3(NF1):c.4501G>T (p.Asp1501Tyr)
|
|
|
NM_001042492.3(NF1):c.4502A>G (p.Asp1501Gly)
|
rs1555618835
|
|
NM_001042492.3(NF1):c.4502_4503delinsTT (p.Asp1501Val)
|
|
|
NM_001042492.3(NF1):c.4504_4505delinsAA (p.Gly1502Asn)
|
|
|
NM_001042492.3(NF1):c.4505G>A (p.Gly1502Asp)
|
|
|
NM_001042492.3(NF1):c.4507A>C (p.Asn1503His)
|
rs1555618837
|
|
NM_001042492.3(NF1):c.4507A>G (p.Asn1503Asp)
|
|
|
NM_001042492.3(NF1):c.450C>A (p.Phe150Leu)
|
rs202142624
|
|
NM_001042492.3(NF1):c.4510G>A (p.Val1504Met)
|
rs1555618839
|
|
NM_001042492.3(NF1):c.4516G>C (p.Ala1506Pro)
|
|
|
NM_001042492.3(NF1):c.4516_4517delinsTT (p.Ala1506Phe)
|
rs1567862930
|
|
NM_001042492.3(NF1):c.4517C>T (p.Ala1506Val)
|
|
|
NM_001042492.3(NF1):c.4518_4544dup (p.Asn1514_Gln1515insHisLeuHisArgLeuLeuTrpAsnAsn)
|
|
|
NM_001042492.3(NF1):c.451A>G (p.Asn151Asp)
|
rs769391944
|
|
NM_001042492.3(NF1):c.4520T>C (p.Leu1507Ser)
|
rs1135402863
|
|
NM_001042492.3(NF1):c.4522C>G (p.His1508Asp)
|
rs1393895345
|
|
NM_001042492.3(NF1):c.4523A>G (p.His1508Arg)
|
rs1254695587
|
|
NM_001042492.3(NF1):c.4525C>T (p.Arg1509Cys)
|
rs864622348
|
|
NM_001042492.3(NF1):c.4528C>G (p.Leu1510Val)
|
rs1597747076
|
|
NM_001042492.3(NF1):c.4529T>C (p.Leu1510Pro)
|
rs1597747078
|
|
NM_001042492.3(NF1):c.4529T>G (p.Leu1510Arg)
|
|
|
NM_001042492.3(NF1):c.452A>T (p.Asn151Ile)
|
|
|
NM_001042492.3(NF1):c.4530A>G (p.Leu1510=)
|
rs876660089
|
|
NM_001042492.3(NF1):c.4530_4531insATA (p.Leu1510_Leu1511insIle)
|
|
|
NM_001042492.3(NF1):c.4531C>G (p.Leu1511Val)
|
rs2067665189
|
|
NM_001042492.3(NF1):c.4531C>T (p.Leu1511Phe)
|
rs2067665189
|
|
NM_001042492.3(NF1):c.4532_4533delinsAT (p.Leu1511His)
|
|
|
NM_001042492.3(NF1):c.4536G>C (p.Trp1512Cys)
|
rs878853897
|
|
NM_001042492.3(NF1):c.4538A>G (p.Asn1513Ser)
|
rs113205862
|
|
NM_001042492.3(NF1):c.4539C>G (p.Asn1513Lys)
|
rs2067665418
|
|
NM_001042492.3(NF1):c.4540A>C (p.Asn1514His)
|
rs864622404
|
|
NM_001042492.3(NF1):c.4540A>G (p.Asn1514Asp)
|
rs864622404
|
|
NM_001042492.3(NF1):c.4546G>A (p.Glu1516Lys)
|
|
|
NM_001042492.3(NF1):c.4546G>C (p.Glu1516Gln)
|
rs786203390
|
|
NM_001042492.3(NF1):c.4548G>C (p.Glu1516Asp)
|
rs1567863000
|
|
NM_001042492.3(NF1):c.4548G>T (p.Glu1516Asp)
|
rs1567863000
|
|
NM_001042492.3(NF1):c.4549A>G (p.Lys1517Glu)
|
rs2067665710
|
|
NM_001042492.3(NF1):c.454G>A (p.Ala152Thr)
|
rs2065795636
|
|
NM_001042492.3(NF1):c.4555G>A (p.Gly1519Arg)
|
rs1060500380
|
|
NM_001042492.3(NF1):c.4557_4558delinsTA (p.Gln1520Lys)
|
|
|
NM_001042492.3(NF1):c.4560G>C (p.Gln1520His)
|
rs1555618859
|
|
NM_001042492.3(NF1):c.4560G>T (p.Gln1520His)
|
rs1555618859
|
|
NM_001042492.3(NF1):c.4562A>G (p.Tyr1521Cys)
|
rs2067665932
|
|
NM_001042492.3(NF1):c.4562A>T (p.Tyr1521Phe)
|
rs2067665932
|
|
NM_001042492.3(NF1):c.4565T>C (p.Leu1522Pro)
|
|
|
NM_001042492.3(NF1):c.4567T>C (p.Ser1523Pro)
|
|
|
NM_001042492.3(NF1):c.4568C>A (p.Ser1523Tyr)
|
|
|
NM_001042492.3(NF1):c.4568C>G (p.Ser1523Cys)
|
|
|
NM_001042492.3(NF1):c.4570A>G (p.Ser1524Gly)
|
rs2151464855
|
|
NM_001042492.3(NF1):c.4571_4572delinsAA (p.Ser1524Lys)
|
rs1555618860
|
|
NM_001042492.3(NF1):c.4572C>A (p.Ser1524Arg)
|
rs1597747170
|
|
NM_001042492.3(NF1):c.4573A>G (p.Asn1525Asp)
|
rs1555618861
|
|
NM_001042492.3(NF1):c.4574A>G (p.Asn1525Ser)
|
|
|
NM_001042492.3(NF1):c.4575C>A (p.Asn1525Lys)
|
|
|
NM_001042492.3(NF1):c.4576A>G (p.Arg1526Gly)
|
|
|
NM_001042492.3(NF1):c.4577+2T>C
|
rs1597747184
|
|
NM_001042492.3(NF1):c.4577+2dup
|
rs2067666266
|
|
NM_001042492.3(NF1):c.4577+4A>G
|
rs1555618863
|
|
NM_001042492.3(NF1):c.4577+4del
|
|
|
NM_001042492.3(NF1):c.4577+6A>G
|
rs2067666398
|
|
NM_001042492.3(NF1):c.4578-11_4578-10del
|
|
|
NM_001042492.3(NF1):c.4578-19A>C
|
|
|
NM_001042492.3(NF1):c.4578-31_4578-30insAGGGAAA
|
|
|
NM_001042492.3(NF1):c.4578-3T>A
|
rs1597748656
|
|
NM_001042492.3(NF1):c.4578-3del
|
rs1597748663
|
|
NM_001042492.3(NF1):c.4578-7T>A
|
rs2067689107
|
|
NM_001042492.3(NF1):c.4578-8G>C
|
rs375758486
|
|
NM_001042492.3(NF1):c.4578-9T>A
|
rs2067688959
|
|
NM_001042492.3(NF1):c.4578G>T (p.Arg1526Ser)
|
rs1356757316
|
|
NM_001042492.3(NF1):c.4579G>A (p.Asp1527Asn)
|
|
|
NM_001042492.3(NF1):c.4579G>T (p.Asp1527Tyr)
|
rs587781542
|
|
NM_001042492.3(NF1):c.4580A>T (p.Asp1527Val)
|
|
|
NM_001042492.3(NF1):c.4582C>T (p.His1528Tyr)
|
|
|
NM_001042492.3(NF1):c.4585A>G (p.Lys1529Glu)
|
|
|
NM_001042492.3(NF1):c.4588G>A (p.Ala1530Thr)
|
rs2151466206
|
|
NM_001042492.3(NF1):c.458T>A (p.Val153Asp)
|
rs2143673698
|
|
NM_001042492.3(NF1):c.458T>C (p.Val153Ala)
|
rs2143673698
|
|
NM_001042492.3(NF1):c.4591G>A (p.Val1531Ile)
|
|
|
NM_001042492.3(NF1):c.4591G>T (p.Val1531Phe)
|
|
|
NM_001042492.3(NF1):c.4595G>A (p.Gly1532Glu)
|
|
|
NM_001042492.3(NF1):c.4595G>T (p.Gly1532Val)
|
|
|
NM_001042492.3(NF1):c.4598G>A (p.Arg1533Lys)
|
|
|
NM_001042492.3(NF1):c.4599A>T (p.Arg1533Ser)
|
rs1597748710
|
|
NM_001042492.3(NF1):c.4607T>C (p.Phe1536Ser)
|
|
|
NM_001042492.3(NF1):c.460T>C (p.Phe154Leu)
|
|
|
NM_001042492.3(NF1):c.4615A>G (p.Met1539Val)
|
|
|
NM_001042492.3(NF1):c.4616T>A (p.Met1539Lys)
|
rs1567863578
|
|
NM_001042492.3(NF1):c.4616T>C (p.Met1539Thr)
|
rs1567863578
|
|
NM_001042492.3(NF1):c.4618G>A (p.Ala1540Thr)
|
rs2151466274
|
|
NM_001042492.3(NF1):c.4619C>A (p.Ala1540Glu)
|
rs2151466279
|
|
NM_001042492.3(NF1):c.4621A>G (p.Thr1541Ala)
|
rs2067690191
|
|
NM_001042492.3(NF1):c.4622C>T (p.Thr1541Ile)
|
rs2151466288
|
|
NM_001042492.3(NF1):c.4624C>G (p.Leu1542Val)
|
rs1555619011
|
|
NM_001042492.3(NF1):c.4624C>T (p.Leu1542Phe)
|
rs1555619011
|
|
NM_001042492.3(NF1):c.4624CTT[1] (p.Leu1543del)
|
|
|
NM_001042492.3(NF1):c.4628T>C (p.Leu1543Pro)
|
|
|
NM_001042492.3(NF1):c.4631C>A (p.Ala1544Glu)
|
rs1555619015
|
|
NM_001042492.3(NF1):c.4633T>C (p.Tyr1545His)
|
rs1555619019
|
|
NM_001042492.3(NF1):c.4634A>G (p.Tyr1545Cys)
|
rs1597748795
|
|
NM_001042492.3(NF1):c.4637T>C (p.Leu1546Pro)
|
rs876660760
|
|
NM_001042492.3(NF1):c.4637T>G (p.Leu1546Arg)
|
|
|
NM_001042492.3(NF1):c.4639G>A (p.Gly1547Ser)
|
|
|
NM_001042492.3(NF1):c.463A>T (p.Ser155Cys)
|
rs1272106481
|
|
NM_001042492.3(NF1):c.4640G>A (p.Gly1547Asp)
|
rs2151466343
|
|
NM_001042492.3(NF1):c.4642C>T (p.Pro1548Ser)
|
rs876658396
|
|
NM_001042492.3(NF1):c.4645C>G (p.Pro1549Ala)
|
rs1555619025
|
|
NM_001042492.3(NF1):c.4646C>G (p.Pro1549Arg)
|
rs2151466351
|
|
NM_001042492.3(NF1):c.4649A>G (p.Glu1550Gly)
|
rs2067690886
|
|
NM_001042492.3(NF1):c.464G>A (p.Ser155Asn)
|
rs1555606113
|
|
NM_001042492.3(NF1):c.4657C>T (p.Pro1553Ser)
|
rs1033427343
|
|
NM_001042492.3(NF1):c.4658C>G (p.Pro1553Arg)
|
rs1597748857
|
|
NM_001042492.3(NF1):c.4658C>T (p.Pro1553Leu)
|
|
|
NM_001042492.3(NF1):c.4660G>A (p.Val1554Met)
|
rs1319687326
|
|
NM_001042492.3(NF1):c.4663G>A (p.Ala1555Thr)
|
rs1597748868
|
|
NM_001042492.3(NF1):c.4666G>C (p.Asp1556His)
|
|
|
NM_001042492.3(NF1):c.4667A>T (p.Asp1556Val)
|
|
|
NM_001042492.3(NF1):c.466C>T (p.Arg156Cys)
|
rs755890242
|
|
NM_001042492.3(NF1):c.4670C>A (p.Thr1557Lys)
|
rs876660065
|
|
NM_001042492.3(NF1):c.4670C>G (p.Thr1557Arg)
|
rs876660065
|
|
NM_001042492.3(NF1):c.4670C>T (p.Thr1557Ile)
|
rs876660065
|
|
NM_001042492.3(NF1):c.4672C>T (p.His1558Tyr)
|
rs1468638747
|
|
NM_001042492.3(NF1):c.4673A>G (p.His1558Arg)
|
rs1597748910
|
|
NM_001042492.3(NF1):c.467G>C (p.Arg156Pro)
|
rs754096545
|
|
NM_001042492.3(NF1):c.467G>T (p.Arg156Leu)
|
rs754096545
|
|
NM_001042492.3(NF1):c.4681A>G (p.Ser1561Gly)
|
|
|
NM_001042492.3(NF1):c.4681A>T (p.Ser1561Cys)
|
rs2151466435
|
|
NM_001042492.3(NF1):c.4682G>C (p.Ser1561Thr)
|
rs751414513
|
|
NM_001042492.3(NF1):c.4682G>T (p.Ser1561Ile)
|
|
|
NM_001042492.3(NF1):c.4683C>G (p.Ser1561Arg)
|
rs2067691723
|
|
NM_001042492.3(NF1):c.4684C>T (p.Leu1562Phe)
|
|
|
NM_001042492.3(NF1):c.4685T>A (p.Leu1562His)
|
|
|
NM_001042492.3(NF1):c.4688A>T (p.Asn1563Ile)
|
|
|
NM_001042492.3(NF1):c.4694C>G (p.Thr1565Ser)
|
rs2067691859
|
|
NM_001042492.3(NF1):c.4696A>G (p.Ser1566Gly)
|
|
|
NM_001042492.3(NF1):c.469A>G (p.Ile157Val)
|
rs1555606118
|
|
NM_001042492.3(NF1):c.4700C>T (p.Ser1567Leu)
|
rs1555619051
|
|
NM_001042492.3(NF1):c.4706T>C (p.Phe1569Ser)
|
|
|
NM_001042492.3(NF1):c.470T>A (p.Ile157Asn)
|
rs199474744
|
|
NM_001042492.3(NF1):c.4717A>G (p.Met1573Val)
|
|
|
NM_001042492.3(NF1):c.4721C>T (p.Thr1574Ile)
|
rs1567863650
|
|
NM_001042492.3(NF1):c.4724+1102A>C
|
|
|
NM_001042492.3(NF1):c.4724+2_4724+3insTTT
|
rs2151466559
|
|
NM_001042492.3(NF1):c.4724+3A>C
|
|
|
NM_001042492.3(NF1):c.4724+5A>G
|
rs2151466564
|
|
NM_001042492.3(NF1):c.4724+6G>A
|
rs2067692408
|
|
NM_001042492.3(NF1):c.4724+7T>G
|
|
|
NM_001042492.3(NF1):c.4724G>A (p.Arg1575Lys)
|
|
|
NM_001042492.3(NF1):c.4725-3T>C
|
rs892441625
|
|
NM_001042492.3(NF1):c.4725G>A (p.Arg1575=)
|
rs147755637
|
|
NM_001042492.3(NF1):c.4725G>T (p.Arg1575Ser)
|
|
|
NM_001042492.3(NF1):c.4729C>G (p.Gln1577Glu)
|
|
|
NM_001042492.3(NF1):c.4732G>A (p.Val1578Ile)
|
rs1597753156
|
|
NM_001042492.3(NF1):c.4736A>C (p.His1579Pro)
|
rs1275751975
|
|
NM_001042492.3(NF1):c.4740A>T (p.Glu1580Asp)
|
|
|
NM_001042492.3(NF1):c.4749A>T (p.Glu1583Asp)
|
rs144091165
|
|
NM_001042492.3(NF1):c.4754A>G (p.Lys1585Arg)
|
|
|
NM_001042492.3(NF1):c.4756G>A (p.Ala1586Thr)
|
rs767438491
|
|
NM_001042492.3(NF1):c.4756G>T (p.Ala1586Ser)
|
rs767438491
|
|
NM_001042492.3(NF1):c.475A>C (p.Thr159Pro)
|
rs371192107
|
|
NM_001042492.3(NF1):c.4760T>C (p.Leu1587Ser)
|
|
|
NM_001042492.3(NF1):c.4762A>G (p.Lys1588Glu)
|
rs2067765422
|
|
NM_001042492.3(NF1):c.4765A>C (p.Thr1589Pro)
|
|
|
NM_001042492.3(NF1):c.4765A>G (p.Thr1589Ala)
|
rs2067765502
|
|
NM_001042492.3(NF1):c.4768T>G (p.Leu1590Val)
|
rs1567865010
|
|
NM_001042492.3(NF1):c.4769T>C (p.Leu1590Ser)
|
|
|
NM_001042492.3(NF1):c.476C>T (p.Thr159Ile)
|
|
|
NM_001042492.3(NF1):c.4770A>C (p.Leu1590Phe)
|
rs1567865021
|
|
NM_001042492.3(NF1):c.4772G>A (p.Ser1591Asn)
|
rs1597753246
|
|
NM_001042492.3(NF1):c.4772G>C (p.Ser1591Thr)
|
rs1597753246
|
|
NM_001042492.3(NF1):c.4774A>G (p.Ile1592Val)
|
|
|
NM_001042492.3(NF1):c.4775T>C (p.Ile1592Thr)
|
rs765799937
|
|
NM_001042492.3(NF1):c.4779C>A (p.Phe1593Leu)
|
rs2151470179
|
|
NM_001042492.3(NF1):c.4781A>G (p.Tyr1594Cys)
|
rs1060500303
|
|
NM_001042492.3(NF1):c.4784A>G (p.Gln1595Arg)
|
rs2151470206
|
|
NM_001042492.3(NF1):c.4786G>C (p.Ala1596Pro)
|
rs2151470213
|
|
NM_001042492.3(NF1):c.4787C>A (p.Ala1596Asp)
|
|
|
NM_001042492.3(NF1):c.4787C>G (p.Ala1596Gly)
|
rs1567865042
|
|
NM_001042492.3(NF1):c.4789G>A (p.Gly1597Arg)
|
|
|
NM_001042492.3(NF1):c.478A>G (p.Arg160Gly)
|
rs1555606128
|
|
NM_001042492.3(NF1):c.478A>T (p.Arg160Trp)
|
|
|
NM_001042492.3(NF1):c.479+3T>G
|
rs876658752
|
|
NM_001042492.3(NF1):c.479+5G>T
|
rs1567818033
|
|
NM_001042492.3(NF1):c.479+6T>C
|
rs1567818036
|
|
NM_001042492.3(NF1):c.4790G>A (p.Gly1597Glu)
|
|
|
NM_001042492.3(NF1):c.4790G>C (p.Gly1597Ala)
|
|
|
NM_001042492.3(NF1):c.4790G>T (p.Gly1597Val)
|
rs2067766230
|
|
NM_001042492.3(NF1):c.4791G>T (p.Gly1597=)
|
rs1412795566
|
|
NM_001042492.3(NF1):c.4792A>G (p.Thr1598Ala)
|
|
|
NM_001042492.3(NF1):c.4793_4807del (p.Thr1598_Gly1602del)
|
|
|
NM_001042492.3(NF1):c.4795T>C (p.Ser1599Pro)
|
|
|
NM_001042492.3(NF1):c.4796C>A (p.Ser1599Tyr)
|
rs1555619407
|
|
NM_001042492.3(NF1):c.4796C>G (p.Ser1599Cys)
|
rs1555619407
|
|
NM_001042492.3(NF1):c.4796C>T (p.Ser1599Phe)
|
rs1555619407
|
|
NM_001042492.3(NF1):c.480-2746A>G
|
|
|
NM_001042492.3(NF1):c.480-29A>G
|
|
|
NM_001042492.3(NF1):c.480-3del
|
|
|
NM_001042492.3(NF1):c.480-5T>C
|
rs1555607069
|
|
NM_001042492.3(NF1):c.480-5T>G
|
|
|
NM_001042492.3(NF1):c.480-6T>G
|
|
|
NM_001042492.3(NF1):c.480-7T>C
|
rs2143706752
|
|
NM_001042492.3(NF1):c.4801G>A (p.Ala1601Thr)
|
rs754651519
|
|
NM_001042492.3(NF1):c.4801G>C (p.Ala1601Pro)
|
|
|
NM_001042492.3(NF1):c.4802C>A (p.Ala1601Asp)
|
rs2151470269
|
|
NM_001042492.3(NF1):c.4804G>A (p.Gly1602Arg)
|
rs878853898
|
|
NM_001042492.3(NF1):c.4805G>A (p.Gly1602Glu)
|
|
|
NM_001042492.3(NF1):c.4808A>G (p.Asn1603Ser)
|
rs2067766672
|
|
NM_001042492.3(NF1):c.4808A>T (p.Asn1603Ile)
|
|
|
NM_001042492.3(NF1):c.480G>T (p.Arg160Ser)
|
rs1555607071
|
|
NM_001042492.3(NF1):c.4811C>G (p.Pro1604Arg)
|
rs2067766742
|
|
NM_001042492.3(NF1):c.4811C>T (p.Pro1604Leu)
|
rs2067766742
|
|
NM_001042492.3(NF1):c.4813A>T (p.Ile1605Phe)
|
rs199474766
|
|
NM_001042492.3(NF1):c.4814T>A (p.Ile1605Asn)
|
|
|
NM_001042492.3(NF1):c.4817T>C (p.Phe1606Ser)
|
|
|
NM_001042492.3(NF1):c.4819TAT[1] (p.Tyr1608del)
|
|
|
NM_001042492.3(NF1):c.4820A>G (p.Tyr1607Cys)
|
|
|
NM_001042492.3(NF1):c.4822T>G (p.Tyr1608Asp)
|
rs2067766985
|
|
NM_001042492.3(NF1):c.4823A>C (p.Tyr1608Ser)
|
rs1555619417
|
|
NM_001042492.3(NF1):c.4823A>G (p.Tyr1608Cys)
|
rs1555619417
|
|
NM_001042492.3(NF1):c.4825G>A (p.Val1609Ile)
|
rs876658973
|
|
NM_001042492.3(NF1):c.4826T>C (p.Val1609Ala)
|
rs876660303
|
|
NM_001042492.3(NF1):c.4828G>A (p.Ala1610Thr)
|
rs2067767184
|
|
NM_001042492.3(NF1):c.4828G>T (p.Ala1610Ser)
|
rs2067767184
|
|
NM_001042492.3(NF1):c.4829C>T (p.Ala1610Val)
|
|
|
NM_001042492.3(NF1):c.482T>C (p.Leu161Ser)
|
|
|
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.4834A>T (p.Arg1612Trp)
|
|
|
NM_001042492.3(NF1):c.4835+3_4835+10delinsT
|
rs2067767641
|
|
NM_001042492.3(NF1):c.4835+4A>C
|
|
|
NM_001042492.3(NF1):c.4835+4A>G
|
|
|
NM_001042492.3(NF1):c.4835G>A (p.Arg1612Lys)
|
rs1555619423
|
|
NM_001042492.3(NF1):c.4835G>C (p.Arg1612Thr)
|
rs1555619423
|
|
NM_001042492.3(NF1):c.4835G>T (p.Arg1612Met)
|
rs1555619423
|
|
NM_001042492.3(NF1):c.4836-15T>A
|
rs2151537408
|
|
NM_001042492.3(NF1):c.4836-3T>A
|
|
|
NM_001042492.3(NF1):c.4836G>T (p.Arg1612Ser)
|
rs1555533268
|
|
NM_001042492.3(NF1):c.4838T>G (p.Phe1613Cys)
|
rs2151537477
|
|
NM_001042492.3(NF1):c.4841A>G (p.Lys1614Arg)
|
|
|
NM_001042492.3(NF1):c.4846G>A (p.Gly1616Ser)
|
rs1555533271
|
|
NM_001042492.3(NF1):c.4847G>A (p.Gly1616Asp)
|
rs1597829516
|
|
NM_001042492.3(NF1):c.4849C>G (p.Gln1617Glu)
|
|
|
NM_001042492.3(NF1):c.484C>A (p.Gln162Lys)
|
rs1555607073
|
|
NM_001042492.3(NF1):c.484C>G (p.Gln162Glu)
|
rs1555607073
|
|
NM_001042492.3(NF1):c.4852A>G (p.Ile1618Val)
|
|
|
NM_001042492.3(NF1):c.4852A>T (p.Ile1618Phe)
|
rs1208118952
|
|
NM_001042492.3(NF1):c.4856A>G (p.Asn1619Ser)
|
rs1466167635
|
|
NM_001042492.3(NF1):c.4862A>C (p.Asp1621Ala)
|
rs2151537564
|
|
NM_001042492.3(NF1):c.4865T>G (p.Leu1622Trp)
|
|
|
NM_001042492.3(NF1):c.4866G>T (p.Leu1622Phe)
|
|
|
NM_001042492.3(NF1):c.4868T>C (p.Leu1623Pro)
|
rs2151537585
|
|
NM_001042492.3(NF1):c.4868T>G (p.Leu1623Arg)
|
|
|
NM_001042492.3(NF1):c.4871T>C (p.Ile1624Thr)
|
|
|
NM_001042492.3(NF1):c.4872A>G (p.Ile1624Met)
|
|
|
NM_001042492.3(NF1):c.487G>A (p.Glu163Lys)
|
|
|
NM_001042492.3(NF1):c.4880T>G (p.Val1627Gly)
|
rs1567611231
|
|
NM_001042492.3(NF1):c.4881_4883del (p.Leu1629del)
|
|
|
NM_001042492.3(NF1):c.4884A>C (p.Leu1628Phe)
|
rs2151537649
|
|
NM_001042492.3(NF1):c.4885C>G (p.Leu1629Val)
|
|
|
NM_001042492.3(NF1):c.4886T>C (p.Leu1629Pro)
|
rs1555533288
|
|
NM_001042492.3(NF1):c.4889C>T (p.Thr1630Ile)
|
|
|
NM_001042492.3(NF1):c.488A>G (p.Glu163Gly)
|
|
|
NM_001042492.3(NF1):c.4892T>C (p.Leu1631Ser)
|
rs1555533292
|
|
NM_001042492.3(NF1):c.4894A>C (p.Lys1632Gln)
|
rs1597829604
|
|
NM_001042492.3(NF1):c.4895A>G (p.Lys1632Arg)
|
rs2069327086
|
|
NM_001042492.3(NF1):c.4897C>A (p.Pro1633Thr)
|
rs1567611255
|
|
NM_001042492.3(NF1):c.4898C>T (p.Pro1633Leu)
|
|
|
NM_001042492.3(NF1):c.4900T>A (p.Tyr1634Asn)
|
|
|
NM_001042492.3(NF1):c.4903T>C (p.Tyr1635His)
|
|
|
NM_001042492.3(NF1):c.4903_4917dup (p.Tyr1635_Tyr1639dup)
|
rs2069327013
|
|
NM_001042492.3(NF1):c.4904A>G (p.Tyr1635Cys)
|
rs786202866
|
|
NM_001042492.3(NF1):c.4904A>T (p.Tyr1635Phe)
|
rs786202866
|
|
NM_001042492.3(NF1):c.4916A>G (p.Tyr1639Cys)
|
|
|
NM_001042492.3(NF1):c.4921A>G (p.Ile1641Val)
|
rs2151537768
|
|
NM_001042492.3(NF1):c.4922T>C (p.Ile1641Thr)
|
rs1567611281
|
|
NM_001042492.3(NF1):c.4924G>A (p.Val1642Ile)
|
rs2151537778
|
|
NM_001042492.3(NF1):c.4924G>T (p.Val1642Leu)
|
|
|
NM_001042492.3(NF1):c.4925T>A (p.Val1642Glu)
|
rs1555533301
|
|
NM_001042492.3(NF1):c.4927G>A (p.Val1643Met)
|
rs1060500381
|
|
NM_001042492.3(NF1):c.4927_4929delinsATA (p.Val1643Ile)
|
rs1597829655
|
|
NM_001042492.3(NF1):c.4928T>C (p.Val1643Ala)
|
|
|
NM_001042492.3(NF1):c.4929G>T (p.Val1643=)
|
rs17880521
|
|
NM_001042492.3(NF1):c.4930G>C (p.Asp1644His)
|
rs1131691123
|
|
NM_001042492.3(NF1):c.4933C>G (p.Leu1645Val)
|
rs2069328058
|
|
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>G (p.Thr1646Ala)
|
|
|
NM_001042492.3(NF1):c.4936A>T (p.Thr1646Ser)
|
|
|
NM_001042492.3(NF1):c.4937C>A (p.Thr1646Asn)
|
|
|
NM_001042492.3(NF1):c.4937C>T (p.Thr1646Ile)
|
rs1597829686
|
|
NM_001042492.3(NF1):c.493A>G (p.Thr165Ala)
|
rs786203186
|
|
NM_001042492.3(NF1):c.4940A>C (p.His1647Pro)
|
rs1555533307
|
|
NM_001042492.3(NF1):c.4942A>C (p.Thr1648Pro)
|
|
|
NM_001042492.3(NF1):c.4942A>T (p.Thr1648Ser)
|
rs770558820
|
|
NM_001042492.3(NF1):c.4945G>T (p.Gly1649Trp)
|
|
|
NM_001042492.3(NF1):c.4946G>A (p.Gly1649Glu)
|
rs1597829715
|
|
NM_001042492.3(NF1):c.4949C>T (p.Pro1650Leu)
|
rs1597829723
|
|
NM_001042492.3(NF1):c.4949_4954del (p.Pro1650_Asn1652delinsHis)
|
rs1567611339
|
|
NM_001042492.3(NF1):c.494C>G (p.Thr165Ser)
|
rs876660009
|
|
NM_001042492.3(NF1):c.494C>T (p.Thr165Ile)
|
rs876660009
|
|
NM_001042492.3(NF1):c.4951A>C (p.Ser1651Arg)
|
rs1555533314
|
|
NM_001042492.3(NF1):c.4951A>G (p.Ser1651Gly)
|
rs1555533314
|
|
NM_001042492.3(NF1):c.4951A>T (p.Ser1651Cys)
|
rs1555533314
|
|
NM_001042492.3(NF1):c.4953C>G (p.Ser1651Arg)
|
|
|
NM_001042492.3(NF1):c.4955A>G (p.Asn1652Ser)
|
rs775874538
|
|
NM_001042492.3(NF1):c.4956T>A (p.Asn1652Lys)
|
rs1597829740
|
|
NM_001042492.3(NF1):c.4958G>T (p.Arg1653Leu)
|
rs763413441
|
|
NM_001042492.3(NF1):c.4961T>C (p.Phe1654Ser)
|
rs1597829760
|
|
NM_001042492.3(NF1):c.4966A>G (p.Thr1656Ala)
|
|
|
NM_001042492.3(NF1):c.4967C>T (p.Thr1656Ile)
|
|
|
NM_001042492.3(NF1):c.4969_4970delinsTT (p.Asp1657Phe)
|
rs1597829765
|
|
NM_001042492.3(NF1):c.496G>A (p.Val166Ile)
|
|
|
NM_001042492.3(NF1):c.4970A>G (p.Asp1657Gly)
|
|
|
NM_001042492.3(NF1):c.4975C>G (p.Leu1659Val)
|
rs786203709
|
|
NM_001042492.3(NF1):c.4975C>T (p.Leu1659Phe)
|
|
|
NM_001042492.3(NF1):c.4976T>C (p.Leu1659Pro)
|
rs2151537955
|
|
NM_001042492.3(NF1):c.4978T>C (p.Ser1660Pro)
|
|
|
NM_001042492.3(NF1):c.4979C>G (p.Ser1660Cys)
|
rs2069329686
|
|
NM_001042492.3(NF1):c.4979C>T (p.Ser1660Phe)
|
rs2069329686
|
|
NM_001042492.3(NF1):c.497T>C (p.Val166Ala)
|
|
|
NM_001042492.3(NF1):c.4982A>T (p.Lys1661Met)
|
|
|
NM_001042492.3(NF1):c.4984T>A (p.Trp1662Arg)
|
rs1555533328
|
|
NM_001042492.3(NF1):c.4984T>C (p.Trp1662Arg)
|
rs1555533328
|
|
NM_001042492.3(NF1):c.4985G>C (p.Trp1662Ser)
|
rs1567611375
|
|
NM_001042492.3(NF1):c.4985G>T (p.Trp1662Leu)
|
|
|
NM_001042492.3(NF1):c.4990G>T (p.Val1664Phe)
|
|
|
NM_001042492.3(NF1):c.4998T>A (p.Phe1666Leu)
|
rs2151538054
|
|
NM_001042492.3(NF1):c.499T>G (p.Cys167Gly)
|
rs2065903351
|
|
NM_001042492.3(NF1):c.5000C>T (p.Pro1667Leu)
|
|
|
NM_001042492.3(NF1):c.5001T>A (p.Pro1667=)
|
|
|
NM_001042492.3(NF1):c.5003G>T (p.Gly1668Val)
|
rs1555533332
|
|
NM_001042492.3(NF1):c.5007T>G (p.Phe1669Leu)
|
rs761807609
|
|
NM_001042492.3(NF1):c.500G>C (p.Cys167Ser)
|
rs2143707075
|
|
NM_001042492.3(NF1):c.5014G>A (p.Asp1672Asn)
|
rs1483541195
|
|
NM_001042492.3(NF1):c.5015A>G (p.Asp1672Gly)
|
rs1555533338
|
|
NM_001042492.3(NF1):c.5015A>T (p.Asp1672Val)
|
rs1555533338
|
|
NM_001042492.3(NF1):c.5017_5019del (p.Asn1673del)
|
rs2151538129
|
|
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.5024C>T (p.Ser1675Phe)
|
|
|
NM_001042492.3(NF1):c.5026G>T (p.Ala1676Ser)
|
rs756450772
|
|
NM_001042492.3(NF1):c.5030T>A (p.Val1677Asp)
|
rs1060500384
|
|
NM_001042492.3(NF1):c.5030T>C (p.Val1677Ala)
|
rs1060500384
|
|
NM_001042492.3(NF1):c.5030TCTATA[3] (p.Ile1679_Tyr1680dup)
|
rs1135402868
|
|
NM_001042492.3(NF1):c.5030_5031delinsAT (p.Val1677Asp)
|
|
|
NM_001042492.3(NF1):c.5032T>C (p.Tyr1678His)
|
rs786203241
|
|
NM_001042492.3(NF1):c.5033A>C (p.Tyr1678Ser)
|
rs1555533347
|
|
NM_001042492.3(NF1):c.5033A>G (p.Tyr1678Cys)
|
rs1555533347
|
|
NM_001042492.3(NF1):c.5036T>C (p.Ile1679Thr)
|
rs2151538224
|
|
NM_001042492.3(NF1):c.5037C>G (p.Ile1679Met)
|
rs1555533349
|
|
NM_001042492.3(NF1):c.5038T>G (p.Tyr1680Asp)
|
rs2069331474
|
|
NM_001042492.3(NF1):c.5039A>C (p.Tyr1680Ser)
|
|
|
NM_001042492.3(NF1):c.5039A>G (p.Tyr1680Cys)
|
rs758361270
|
|
NM_001042492.3(NF1):c.503C>T (p.Ser168Leu)
|
|
|
NM_001042492.3(NF1):c.5044T>C (p.Cys1682Arg)
|
rs1597829901
|
|
NM_001042492.3(NF1):c.5050T>C (p.Ser1684Pro)
|
|
|
NM_001042492.3(NF1):c.5051C>G (p.Ser1684Cys)
|
rs2151538280
|
|
NM_001042492.3(NF1):c.5055G>T (p.Trp1685Cys)
|
|
|
NM_001042492.3(NF1):c.5057T>A (p.Val1686Asp)
|
|
|
NM_001042492.3(NF1):c.5059A>G (p.Arg1687Gly)
|
rs746461616
|
|
NM_001042492.3(NF1):c.5060G>A (p.Arg1687Lys)
|
rs2151538312
|
|
NM_001042492.3(NF1):c.5060G>C (p.Arg1687Thr)
|
|
|
NM_001042492.3(NF1):c.5060_5069delinsTGTA (p.Arg1687_Thr1690delinsMetTyr)
|
|
|
NM_001042492.3(NF1):c.5061G>C (p.Arg1687Ser)
|
rs2069332144
|
|
NM_001042492.3(NF1):c.5064G>T (p.Glu1688Asp)
|
rs587781693
|
|
NM_001042492.3(NF1):c.5066A>G (p.Tyr1689Cys)
|
|
|
NM_001042492.3(NF1):c.5068A>C (p.Thr1690Pro)
|
rs2069332520
|
|
NM_001042492.3(NF1):c.5069_5070insTTG (p.Thr1690_Lys1691insCys)
|
|
|
NM_001042492.3(NF1):c.5071A>G (p.Lys1691Glu)
|
|
|
NM_001042492.3(NF1):c.5072A>C (p.Lys1691Thr)
|
rs863224661
|
|
NM_001042492.3(NF1):c.5072A>G (p.Lys1691Arg)
|
rs863224661
|
|
NM_001042492.3(NF1):c.5073G>C (p.Lys1691Asn)
|
rs1597829953
|
|
NM_001042492.3(NF1):c.5073G>T (p.Lys1691Asn)
|
|
|
NM_001042492.3(NF1):c.5074T>A (p.Tyr1692Asn)
|
rs1597829956
|
|
NM_001042492.3(NF1):c.5075A>G (p.Tyr1692Cys)
|
|
|
NM_001042492.3(NF1):c.5077C>A (p.His1693Asn)
|
rs2069332893
|
|
NM_001042492.3(NF1):c.5078A>G (p.His1693Arg)
|
rs2151538392
|
|
NM_001042492.3(NF1):c.507A>C (p.Glu169Asp)
|
|
|
NM_001042492.3(NF1):c.5083C>T (p.Arg1695Trp)
|
rs1567611500
|
|
NM_001042492.3(NF1):c.5084G>A (p.Arg1695Gln)
|
rs1555533367
|
|
NM_001042492.3(NF1):c.508G>T (p.Asp170Tyr)
|
rs2065903486
|
|
NM_001042492.3(NF1):c.5092A>T (p.Thr1698Ser)
|
rs876659017
|
|
NM_001042492.3(NF1):c.5093C>G (p.Thr1698Ser)
|
rs769469854
|
|
NM_001042492.3(NF1):c.5093C>T (p.Thr1698Ile)
|
|
|
NM_001042492.3(NF1):c.5095G>A (p.Gly1699Ser)
|
rs1597830004
|
|
NM_001042492.3(NF1):c.5096G>A (p.Gly1699Asp)
|
rs2069333669
|
|
NM_001042492.3(NF1):c.5096G>C (p.Gly1699Ala)
|
rs2069333669
|
|
NM_001042492.3(NF1):c.5096G>T (p.Gly1699Val)
|
rs2069333669
|
|
NM_001042492.3(NF1):c.5101A>C (p.Lys1701Gln)
|
rs876659279
|
|
NM_001042492.3(NF1):c.5101A>G (p.Lys1701Glu)
|
|
|
NM_001042492.3(NF1):c.5102A>C (p.Lys1701Thr)
|
rs1597830021
|
|
NM_001042492.3(NF1):c.5102A>T (p.Lys1701Ile)
|
rs1597830021
|
|
NM_001042492.3(NF1):c.5104G>A (p.Gly1702Ser)
|
|
|
NM_001042492.3(NF1):c.5105G>A (p.Gly1702Asp)
|
rs2069333953
|
|
NM_001042492.3(NF1):c.5107A>G (p.Ser1703Gly)
|
rs1555533374
|
|
NM_001042492.3(NF1):c.5108G>A (p.Ser1703Asn)
|
rs876660159
|
|
NM_001042492.3(NF1):c.5108G>C (p.Ser1703Thr)
|
rs876660159
|
|
NM_001042492.3(NF1):c.510C>A (p.Asp170Glu)
|
rs1597643788
|
|
NM_001042492.3(NF1):c.510C>G (p.Asp170Glu)
|
|
|
NM_001042492.3(NF1):c.5110A>G (p.Lys1704Glu)
|
|
|
NM_001042492.3(NF1):c.5111A>G (p.Lys1704Arg)
|
|
|
NM_001042492.3(NF1):c.5113A>G (p.Arg1705Gly)
|
|
|
NM_001042492.3(NF1):c.5114G>A (p.Arg1705Lys)
|
rs876660487
|
|
NM_001042492.3(NF1):c.5115G>T (p.Arg1705Ser)
|
|
|
NM_001042492.3(NF1):c.5119G>A (p.Val1707Ile)
|
rs1302949776
|
|
NM_001042492.3(NF1):c.511A>C (p.Asn171His)
|
rs1597643796
|
|
NM_001042492.3(NF1):c.511A>G (p.Asn171Asp)
|
rs1597643796
|
|
NM_001042492.3(NF1):c.5123T>G (p.Phe1708Cys)
|
rs1597830056
|
|
NM_001042492.3(NF1):c.5126T>A (p.Ile1709Lys)
|
rs876660316
|
|
NM_001042492.3(NF1):c.5126T>G (p.Ile1709Arg)
|
rs876660316
|
|
NM_001042492.3(NF1):c.5128G>A (p.Asp1710Asn)
|
rs1428709938
|
|
NM_001042492.3(NF1):c.512A>C (p.Asn171Thr)
|
rs767500770
|
|
NM_001042492.3(NF1):c.512A>T (p.Asn171Ile)
|
|
|
NM_001042492.3(NF1):c.5132G>C (p.Cys1711Ser)
|
rs1567611549
|
|
NM_001042492.3(NF1):c.5132G>T (p.Cys1711Phe)
|
rs1567611549
|
|
NM_001042492.3(NF1):c.5134C>A (p.Pro1712Thr)
|
rs1567611556
|
|
NM_001042492.3(NF1):c.5134C>T (p.Pro1712Ser)
|
rs1567611556
|
|
NM_001042492.3(NF1):c.5135C>T (p.Pro1712Leu)
|
|
|
NM_001042492.3(NF1):c.5137G>C (p.Gly1713Arg)
|
rs2151538644
|
|
NM_001042492.3(NF1):c.5140A>G (p.Lys1714Glu)
|
rs1597830089
|
|
NM_001042492.3(NF1):c.5141A>C (p.Lys1714Thr)
|
rs2069334864
|
|
NM_001042492.3(NF1):c.5142A>C (p.Lys1714Asn)
|
rs1555533379
|
|
NM_001042492.3(NF1):c.5142A>G (p.Lys1714=)
|
rs1555533379
|
|
NM_001042492.3(NF1):c.5143C>G (p.Leu1715Val)
|
|
|
NM_001042492.3(NF1):c.5144T>C (p.Leu1715Pro)
|
rs2151538677
|
|
NM_001042492.3(NF1):c.5146G>A (p.Ala1716Thr)
|
rs767469374
|
|
NM_001042492.3(NF1):c.514G>A (p.Val172Ile)
|
rs1555607083
|
|
NM_001042492.3(NF1):c.5152C>G (p.His1718Asp)
|
|
|
NM_001042492.3(NF1):c.5152C>T (p.His1718Tyr)
|
rs1555533381
|
|
NM_001042492.3(NF1):c.5155A>C (p.Ile1719Leu)
|
|
|
NM_001042492.3(NF1):c.5155A>G (p.Ile1719Val)
|
rs1434439252
|
|
NM_001042492.3(NF1):c.5156T>C (p.Ile1719Thr)
|
rs1597830137
|
|
NM_001042492.3(NF1):c.5158G>A (p.Glu1720Lys)
|
|
|
NM_001042492.3(NF1):c.5158G>C (p.Glu1720Gln)
|
|
|
NM_001042492.3(NF1):c.5160G>C (p.Glu1720Asp)
|
rs773378630
|
|
NM_001042492.3(NF1):c.5162A>C (p.His1721Pro)
|
|
|
NM_001042492.3(NF1):c.5162A>G (p.His1721Arg)
|
rs1597830164
|
|
NM_001042492.3(NF1):c.5162A>T (p.His1721Leu)
|
|
|
NM_001042492.3(NF1):c.5163T>G (p.His1721Gln)
|
rs267604792
|
|
NM_001042492.3(NF1):c.5164G>A (p.Glu1722Lys)
|
|
|
NM_001042492.3(NF1):c.5166A>T (p.Glu1722Asp)
|
rs1597830174
|
|
NM_001042492.3(NF1):c.5168A>G (p.Gln1723Arg)
|
|
|
NM_001042492.3(NF1):c.5169A>T (p.Gln1723His)
|
rs864622372
|
|
NM_001042492.3(NF1):c.5170C>G (p.Gln1724Glu)
|
rs1567611587
|
|
NM_001042492.3(NF1):c.5175A>T (p.Lys1725Asn)
|
|
|
NM_001042492.3(NF1):c.5176C>T (p.Leu1726=)
|
|
|
NM_001042492.3(NF1):c.5177T>G (p.Leu1726Arg)
|
rs2151538809
|
|
NM_001042492.3(NF1):c.5179C>T (p.Pro1727Ser)
|
|
|
NM_001042492.3(NF1):c.5180C>G (p.Pro1727Arg)
|
rs2069336255
|
|
NM_001042492.3(NF1):c.5180C>T (p.Pro1727Leu)
|
|
|
NM_001042492.3(NF1):c.5185G>C (p.Ala1729Pro)
|
|
|
NM_001042492.3(NF1):c.5186C>T (p.Ala1729Val)
|
|
|
NM_001042492.3(NF1):c.5188A>C (p.Thr1730Pro)
|
|
|
NM_001042492.3(NF1):c.5188A>G (p.Thr1730Ala)
|
|
|
NM_001042492.3(NF1):c.5189C>G (p.Thr1730Ser)
|
rs772831692
|
|
NM_001042492.3(NF1):c.5189C>T (p.Thr1730Ile)
|
rs772831692
|
|
NM_001042492.3(NF1):c.518A>T (p.Asp173Val)
|
rs1597643820
|
|
NM_001042492.3(NF1):c.5191T>A (p.Leu1731Met)
|
rs876658602
|
|
NM_001042492.3(NF1):c.5191T>G (p.Leu1731Val)
|
rs876658602
|
|
NM_001042492.3(NF1):c.5193_5194insAATGCCACCTTG (p.Leu1731_Ala1732insAsnAlaThrLeu)
|
rs2151538831
|
|
NM_001042492.3(NF1):c.5194G>A (p.Ala1732Thr)
|
rs2069336671
|
|
NM_001042492.3(NF1):c.5195C>G (p.Ala1732Gly)
|
rs202037436
|
|
NM_001042492.3(NF1):c.519_520insCAA (p.Asp173_Val174insGln)
|
rs2143707301
|
|
NM_001042492.3(NF1):c.520G>A (p.Val174Ile)
|
rs1555607084
|
|
NM_001042492.3(NF1):c.520G>T (p.Val174Phe)
|
rs1555607084
|
|
NM_001042492.3(NF1):c.5210T>A (p.Leu1737Gln)
|
|
|
NM_001042492.3(NF1):c.5210T>C (p.Leu1737Pro)
|
|
|
NM_001042492.3(NF1):c.5212A>G (p.Lys1738Glu)
|
rs2069337096
|
|
NM_001042492.3(NF1):c.5215G>A (p.Val1739Ile)
|
|
|
NM_001042492.3(NF1):c.5215G>C (p.Val1739Leu)
|
rs876659956
|
|
NM_001042492.3(NF1):c.5217A>T (p.Val1739=)
|
|
|
NM_001042492.3(NF1):c.5221C>A (p.His1741Asn)
|
rs780529277
|
|
NM_001042492.3(NF1):c.5221C>G (p.His1741Asp)
|
|
|
NM_001042492.3(NF1):c.5221C>T (p.His1741Tyr)
|
rs780529277
|
|
NM_001042492.3(NF1):c.5222A>T (p.His1741Leu)
|
rs1555533402
|
|
NM_001042492.3(NF1):c.5224A>G (p.Asn1742Asp)
|
rs2069337415
|
|
NM_001042492.3(NF1):c.5226_5234del (p.Asn1742_Leu1744del)
|
|
|
NM_001042492.3(NF1):c.5227G>C (p.Ala1743Pro)
|
rs878853900
|
|
NM_001042492.3(NF1):c.5227G>T (p.Ala1743Ser)
|
|
|
NM_001042492.3(NF1):c.5228C>G (p.Ala1743Gly)
|
|
|
NM_001042492.3(NF1):c.5230C>T (p.Leu1744Phe)
|
rs1555533407
|
|
NM_001042492.3(NF1):c.5233A>C (p.Lys1745Gln)
|
rs2151538985
|
|
NM_001042492.3(NF1):c.5236C>A (p.Leu1746Ile)
|
|
|
NM_001042492.3(NF1):c.5240C>G (p.Ala1747Gly)
|
|
|
NM_001042492.3(NF1):c.5240C>T (p.Ala1747Val)
|
|
|
NM_001042492.3(NF1):c.5244C>G (p.His1748Gln)
|
|
|
NM_001042492.3(NF1):c.5245A>G (p.Lys1749Glu)
|
rs2069338050
|
|
NM_001042492.3(NF1):c.5246A>G (p.Lys1749Arg)
|
|
|
NM_001042492.3(NF1):c.524A>G (p.His175Arg)
|
|
|
NM_001042492.3(NF1):c.5252C>A (p.Thr1751Asn)
|
|
|
NM_001042492.3(NF1):c.5252C>T (p.Thr1751Ile)
|
|
|
NM_001042492.3(NF1):c.5253C>A (p.Thr1751=)
|
rs768884582
|
|
NM_001042492.3(NF1):c.5253C>G (p.Thr1751=)
|
|
|
NM_001042492.3(NF1):c.5254A>G (p.Lys1752Glu)
|
rs2069338262
|
|
NM_001042492.3(NF1):c.5257G>C (p.Val1753Leu)
|
rs148540952
|
|
NM_001042492.3(NF1):c.5260T>C (p.Ser1754Pro)
|
|
|
NM_001042492.3(NF1):c.5260T>G (p.Ser1754Ala)
|
|
|
NM_001042492.3(NF1):c.5261C>A (p.Ser1754Tyr)
|
|
|
NM_001042492.3(NF1):c.5261C>G (p.Ser1754Cys)
|
|
|
NM_001042492.3(NF1):c.5264T>G (p.Ile1755Ser)
|
|
|
NM_001042492.3(NF1):c.5267A>C (p.Lys1756Thr)
|
|
|
NM_001042492.3(NF1):c.5268+2T>A
|
|
|
NM_001042492.3(NF1):c.5268+2dup
|
|
|
NM_001042492.3(NF1):c.5268+3A>C
|
|
|
NM_001042492.3(NF1):c.5268+3A>T
|
|
|
NM_001042492.3(NF1):c.5268+4A>G
|
rs1555533418
|
|
NM_001042492.3(NF1):c.5268+5del
|
|
|
NM_001042492.3(NF1):c.5269-11C>G
|
|
|
NM_001042492.3(NF1):c.5269-14C>G
|
rs753463683
|
|
NM_001042492.3(NF1):c.5269-19C>A
|
rs755620051
|
|
NM_001042492.3(NF1):c.5269-3C>G
|
|
|
NM_001042492.3(NF1):c.5269G>T (p.Val1757Phe)
|
|
|
NM_001042492.3(NF1):c.526G>T (p.Asp176Tyr)
|
|
|
NM_001042492.3(NF1):c.5270T>A (p.Val1757Asp)
|
rs1021835871
|
|
NM_001042492.3(NF1):c.5271T>A (p.Val1757=)
|
rs1399095966
|
|
NM_001042492.3(NF1):c.5273G>A (p.Gly1758Asp)
|
rs1358882546
|
|
NM_001042492.3(NF1):c.5273G>C (p.Gly1758Ala)
|
rs1358882546
|
|
NM_001042492.3(NF1):c.5275T>C (p.Ser1759Pro)
|
rs2069375050
|
|
NM_001042492.3(NF1):c.5275T>G (p.Ser1759Ala)
|
rs2069375050
|
|
NM_001042492.3(NF1):c.5276C>A (p.Ser1759Tyr)
|
|
|
NM_001042492.3(NF1):c.5278A>G (p.Thr1760Ala)
|
|
|
NM_001042492.3(NF1):c.527A>G (p.Asp176Gly)
|
rs1567820732
|
|
NM_001042492.3(NF1):c.5281G>A (p.Ala1761Thr)
|
rs2069375243
|
|
NM_001042492.3(NF1):c.5281G>C (p.Ala1761Pro)
|
rs2069375243
|
|
NM_001042492.3(NF1):c.5282C>G (p.Ala1761Gly)
|
rs2069375331
|
|
NM_001042492.3(NF1):c.5282C>T (p.Ala1761Val)
|
|
|
NM_001042492.3(NF1):c.5283_5300del (p.Val1762_Ala1767del)
|
|
|
NM_001042492.3(NF1):c.5284G>A (p.Val1762Ile)
|
rs1060500290
|
|
NM_001042492.3(NF1):c.5285T>A (p.Val1762Asp)
|
rs1555533550
|
|
NM_001042492.3(NF1):c.5285T>C (p.Val1762Ala)
|
rs1555533550
|
|
NM_001042492.3(NF1):c.5287C>G (p.Gln1763Glu)
|
|
|
NM_001042492.3(NF1):c.5290G>T (p.Val1764Leu)
|
rs778427434
|
|
NM_001042492.3(NF1):c.5294C>T (p.Thr1765Ile)
|
rs2151540847
|
|
NM_001042492.3(NF1):c.5299G>A (p.Ala1767Thr)
|
rs529905904
|
|
NM_001042492.3(NF1):c.5299G>T (p.Ala1767Ser)
|
rs529905904
|
|
NM_001042492.3(NF1):c.529A>C (p.Ile177Leu)
|
|
|
NM_001042492.3(NF1):c.5303A>G (p.Glu1768Gly)
|
rs2151540883
|
|
NM_001042492.3(NF1):c.5304G>C (p.Glu1768Asp)
|
rs2069376025
|
|
NM_001042492.3(NF1):c.5305C>G (p.Arg1769Gly)
|
|
|
NM_001042492.3(NF1):c.5306G>A (p.Arg1769Gln)
|
rs1555533559
|
|
NM_001042492.3(NF1):c.5306G>C (p.Arg1769Pro)
|
|
|
NM_001042492.3(NF1):c.5310A>C (p.Thr1770=)
|
rs2069376282
|
|
NM_001042492.3(NF1):c.5314G>A (p.Val1772Ile)
|
|
|
NM_001042492.3(NF1):c.5314G>C (p.Val1772Leu)
|
rs1567612377
|
|
NM_001042492.3(NF1):c.5317C>G (p.Leu1773Val)
|
|
|
NM_001042492.3(NF1):c.5318T>C (p.Leu1773Pro)
|
rs1597831917
|
|
NM_001042492.3(NF1):c.531A>G (p.Ile177Met)
|
|
|
NM_001042492.3(NF1):c.5321G>A (p.Gly1774Glu)
|
|
|
NM_001042492.3(NF1):c.5324A>T (p.Gln1775Leu)
|
|
|
NM_001042492.3(NF1):c.5328_5329delinsTA (p.Val1777Ile)
|
rs2069377113
|
|
NM_001042492.3(NF1):c.5329G>A (p.Val1777Ile)
|
rs876658562
|
|
NM_001042492.3(NF1):c.5329G>T (p.Val1777Phe)
|
rs876658562
|
|
NM_001042492.3(NF1):c.5332T>C (p.Phe1778Leu)
|
|
|
NM_001042492.3(NF1):c.5336T>G (p.Leu1779Arg)
|
rs2151541015
|
|
NM_001042492.3(NF1):c.5339A>G (p.Asn1780Ser)
|
rs1411525800
|
|
NM_001042492.3(NF1):c.5344A>C (p.Ile1782Leu)
|
rs1160436761
|
|
NM_001042492.3(NF1):c.5348A>G (p.Tyr1783Cys)
|
rs1597831963
|
|
NM_001042492.3(NF1):c.5350T>A (p.Tyr1784Asn)
|
|
|
NM_001042492.3(NF1):c.5350T>G (p.Tyr1784Asp)
|
rs2151541060
|
|
NM_001042492.3(NF1):c.5351A>C (p.Tyr1784Ser)
|
rs1060500280
|
|
NM_001042492.3(NF1):c.5351A>G (p.Tyr1784Cys)
|
rs1060500280
|
|
NM_001042492.3(NF1):c.5353G>A (p.Ala1785Thr)
|
|
|
NM_001042492.3(NF1):c.5353G>T (p.Ala1785Ser)
|
rs199474782
|
|
NM_001042492.3(NF1):c.5360A>C (p.Glu1787Ala)
|
rs1555533570
|
|
NM_001042492.3(NF1):c.5361A>C (p.Glu1787Asp)
|
rs2151541092
|
|
NM_001042492.3(NF1):c.5362A>G (p.Ile1788Val)
|
rs2069378035
|
|
NM_001042492.3(NF1):c.5363T>C (p.Ile1788Thr)
|
rs2069378120
|
|
NM_001042492.3(NF1):c.5365G>A (p.Glu1789Lys)
|
|
|
NM_001042492.3(NF1):c.5365G>C (p.Glu1789Gln)
|
rs1555533571
|
|
NM_001042492.3(NF1):c.5366A>G (p.Glu1789Gly)
|
rs1555533573
|
|
NM_001042492.3(NF1):c.5371A>G (p.Ile1791Val)
|
|
|
NM_001042492.3(NF1):c.5371A>T (p.Ile1791Phe)
|
rs2151541120
|
|
NM_001042492.3(NF1):c.5373C>G (p.Ile1791Met)
|
rs1597831996
|
|
NM_001042492.3(NF1):c.5375G>C (p.Cys1792Ser)
|
|
|
NM_001042492.3(NF1):c.5375G>T (p.Cys1792Phe)
|
rs1263046457
|
|
NM_001042492.3(NF1):c.5377C>A (p.Leu1793Ile)
|
rs761676110
|
|
NM_001042492.3(NF1):c.5378T>C (p.Leu1793Pro)
|
|
|
NM_001042492.3(NF1):c.537G>T (p.Leu179Phe)
|
|
|
NM_001042492.3(NF1):c.5380G>A (p.Val1794Ile)
|
rs1555533574
|
|
NM_001042492.3(NF1):c.5381T>G (p.Val1794Gly)
|
|
|
NM_001042492.3(NF1):c.5384A>G (p.Asp1795Gly)
|
rs1567612446
|
|
NM_001042492.3(NF1):c.5384_5410del (p.Asp1795_Ile1803del)
|
rs2069378982
|
|
NM_001042492.3(NF1):c.5385T>A (p.Asp1795Glu)
|
rs1135402870
|
|
NM_001042492.3(NF1):c.5385T>G (p.Asp1795Glu)
|
rs1135402870
|
|
NM_001042492.3(NF1):c.5389A>G (p.Asn1797Asp)
|
|
|
NM_001042492.3(NF1):c.5390A>G (p.Asn1797Ser)
|
|
|
NM_001042492.3(NF1):c.5391_5393dup (p.Asn1797_Gln1798insHis)
|
|
|
NM_001042492.3(NF1):c.5407A>C (p.Ile1803Leu)
|
|
|
NM_001042492.3(NF1):c.5407A>T (p.Ile1803Phe)
|
|
|
NM_001042492.3(NF1):c.5409T>G (p.Ile1803Met)
|
rs2069379800
|
|
NM_001042492.3(NF1):c.540A>C (p.Leu180Phe)
|
rs1597643865
|
|
NM_001042492.3(NF1):c.5410G>A (p.Ala1804Thr)
|
rs2151541269
|
|
NM_001042492.3(NF1):c.5411C>G (p.Ala1804Gly)
|
|
|
NM_001042492.3(NF1):c.5413A>G (p.Asn1805Asp)
|
rs1287561681
|
|
NM_001042492.3(NF1):c.5419G>A (p.Gly1807Ser)
|
rs1443729188
|
|
NM_001042492.3(NF1):c.5419G>T (p.Gly1807Cys)
|
|
|
NM_001042492.3(NF1):c.5421C>T (p.Gly1807=)
|
rs1060500279
|
|
NM_001042492.3(NF1):c.5422A>G (p.Thr1808Ala)
|
|
|
NM_001042492.3(NF1):c.5423C>A (p.Thr1808Lys)
|
rs760649828
|
|
NM_001042492.3(NF1):c.5427G>A (p.Pro1809=)
|
rs1281695642
|
|
NM_001042492.3(NF1):c.5428C>T (p.Leu1810Phe)
|
|
|
NM_001042492.3(NF1):c.5429T>C (p.Leu1810Pro)
|
|
|
NM_001042492.3(NF1):c.542A>G (p.Gln181Arg)
|
rs2065904138
|
|
NM_001042492.3(NF1):c.5431A>G (p.Thr1811Ala)
|
|
|
NM_001042492.3(NF1):c.5432C>T (p.Thr1811Ile)
|
rs2151541340
|
|
NM_001042492.3(NF1):c.5434T>C (p.Phe1812Leu)
|
rs2069380487
|
|
NM_001042492.3(NF1):c.5438T>C (p.Met1813Thr)
|
|
|
NM_001042492.3(NF1):c.5439G>T (p.Met1813Ile)
|
|
|
NM_001042492.3(NF1):c.5440C>T (p.His1814Tyr)
|
rs1036523228
|
|
NM_001042492.3(NF1):c.5442C>G (p.His1814Gln)
|
rs991848606
|
|
NM_001042492.3(NF1):c.5443C>G (p.Gln1815Glu)
|
rs1555533587
|
|
NM_001042492.3(NF1):c.5447A>G (p.Glu1816Gly)
|
|
|
NM_001042492.3(NF1):c.544T>G (p.Tyr182Asp)
|
rs1597643876
|
|
NM_001042492.3(NF1):c.5450G>A (p.Cys1817Tyr)
|
rs1555533589
|
|
NM_001042492.3(NF1):c.5450G>T (p.Cys1817Phe)
|
rs1555533589
|
|
NM_001042492.3(NF1):c.5456C>T (p.Ala1819Val)
|
rs1555533590
|
|
NM_001042492.3(NF1):c.5458A>G (p.Ile1820Val)
|
rs786202459
|
|
NM_001042492.3(NF1):c.5459T>C (p.Ile1820Thr)
|
rs1597832129
|
|
NM_001042492.3(NF1):c.545A>G (p.Tyr182Cys)
|
rs2143707725
|
|
NM_001042492.3(NF1):c.545A>T (p.Tyr182Phe)
|
|
|
NM_001042492.3(NF1):c.5461G>A (p.Val1821Ile)
|
|
|
NM_001042492.3(NF1):c.5461G>C (p.Val1821Leu)
|
rs1597832135
|
|
NM_001042492.3(NF1):c.5462T>C (p.Val1821Ala)
|
rs2151541436
|
|
NM_001042492.3(NF1):c.5462T>G (p.Val1821Gly)
|
|
|
NM_001042492.3(NF1):c.5465A>C (p.Gln1822Pro)
|
rs1060500328
|
|
NM_001042492.3(NF1):c.5467T>C (p.Ser1823Pro)
|
rs1555533592
|
|
NM_001042492.3(NF1):c.5468C>A (p.Ser1823Tyr)
|
|
|
NM_001042492.3(NF1):c.5471T>G (p.Ile1824Ser)
|
|
|
NM_001042492.3(NF1):c.5473A>G (p.Ile1825Val)
|
rs2069381682
|
|
NM_001042492.3(NF1):c.5476C>G (p.His1826Asp)
|
rs1135402871
|
|
NM_001042492.3(NF1):c.5476C>T (p.His1826Tyr)
|
|
|
NM_001042492.3(NF1):c.5477A>G (p.His1826Arg)
|
rs878853902
|
|
NM_001042492.3(NF1):c.5479A>G (p.Ile1827Val)
|
rs1299780528
|
|
NM_001042492.3(NF1):c.5480T>C (p.Ile1827Thr)
|
rs1555533605
|
|
NM_001042492.3(NF1):c.5480T>G (p.Ile1827Ser)
|
|
|
NM_001042492.3(NF1):c.5481C>G (p.Ile1827Met)
|
rs1555533607
|
|
NM_001042492.3(NF1):c.5482C>G (p.Arg1828Gly)
|
rs1555533609
|
|
NM_001042492.3(NF1):c.5482C>T (p.Arg1828Trp)
|
rs1555533609
|
|
NM_001042492.3(NF1):c.5483G>A (p.Arg1828Gln)
|
rs876660298
|
|
NM_001042492.3(NF1):c.5483G>C (p.Arg1828Pro)
|
|
|
NM_001042492.3(NF1):c.5486C>A (p.Thr1829Asn)
|
|
|
NM_001042492.3(NF1):c.5489G>A (p.Arg1830His)
|
rs771529172
|
|
NM_001042492.3(NF1):c.548T>A (p.Ile183Asn)
|
rs2143707759
|
|
NM_001042492.3(NF1):c.5491T>C (p.Trp1831Arg)
|
rs2069382435
|
|
NM_001042492.3(NF1):c.5491T>G (p.Trp1831Gly)
|
rs2069382435
|
|
NM_001042492.3(NF1):c.5493G>C (p.Trp1831Cys)
|
|
|
NM_001042492.3(NF1):c.5494G>A (p.Glu1832Lys)
|
rs2069382639
|
|
NM_001042492.3(NF1):c.5494G>C (p.Glu1832Gln)
|
|
|
NM_001042492.3(NF1):c.5497C>G (p.Leu1833Val)
|
rs372932380
|
|
NM_001042492.3(NF1):c.5498T>C (p.Leu1833Pro)
|
rs2151541565
|
|
NM_001042492.3(NF1):c.549C>G (p.Ile183Met)
|
rs1597643884
|
|
NM_001042492.3(NF1):c.5503C>A (p.Gln1835Lys)
|
|
|
NM_001042492.3(NF1):c.5503C>G (p.Gln1835Glu)
|
rs786202177
|
|
NM_001042492.3(NF1):c.5504A>G (p.Gln1835Arg)
|
rs876660025
|
|
NM_001042492.3(NF1):c.5505G>T (p.Gln1835His)
|
rs1555533615
|
|
NM_001042492.3(NF1):c.5509G>C (p.Asp1837His)
|
rs771597781
|
|
NM_001042492.3(NF1):c.5510_5518del (p.Asp1837_Pro1840delinsAla)
|
rs876660622
|
|
NM_001042492.3(NF1):c.5512T>C (p.Ser1838Pro)
|
rs1555533619
|
|
NM_001042492.3(NF1):c.5515A>C (p.Ile1839Leu)
|
|
|
NM_001042492.3(NF1):c.5515A>G (p.Ile1839Val)
|
rs2151541625
|
|
NM_001042492.3(NF1):c.5516T>C (p.Ile1839Thr)
|
rs1597832296
|
|
NM_001042492.3(NF1):c.5518C>A (p.Pro1840Thr)
|
|
|
NM_001042492.3(NF1):c.5519C>G (p.Pro1840Arg)
|
|
|
NM_001042492.3(NF1):c.551A>T (p.Asn184Ile)
|
|
|
NM_001042492.3(NF1):c.5521C>A (p.Gln1841Lys)
|
rs786203570
|
|
NM_001042492.3(NF1):c.5522A>G (p.Gln1841Arg)
|
|
|
NM_001042492.3(NF1):c.5523A>T (p.Gln1841His)
|
rs151046636
|
|
NM_001042492.3(NF1):c.5524C>A (p.His1842Asn)
|
|
|
NM_001042492.3(NF1):c.5524C>G (p.His1842Asp)
|
rs1597832336
|
|
NM_001042492.3(NF1):c.5524C>T (p.His1842Tyr)
|
|
|
NM_001042492.3(NF1):c.5525A>G (p.His1842Arg)
|
rs876660928
|
|
NM_001042492.3(NF1):c.5528C>A (p.Thr1843Asn)
|
|
|
NM_001042492.3(NF1):c.5528C>T (p.Thr1843Ile)
|
rs1567612632
|
|
NM_001042492.3(NF1):c.5530A>G (p.Lys1844Glu)
|
|
|
NM_001042492.3(NF1):c.5531A>G (p.Lys1844Arg)
|
rs2069383981
|
|
NM_001042492.3(NF1):c.5532G>T (p.Lys1844Asn)
|
rs2151541680
|
|
NM_001042492.3(NF1):c.5533A>T (p.Ile1845Phe)
|
rs1567612641
|
|
NM_001042492.3(NF1):c.5536C>G (p.Arg1846Gly)
|
rs769843989
|
|
NM_001042492.3(NF1):c.5537G>A (p.Arg1846Gln)
|
rs2069384348
|
|
NM_001042492.3(NF1):c.5537G>T (p.Arg1846Leu)
|
|
|
NM_001042492.3(NF1):c.5539C>A (p.Pro1847Thr)
|
rs2069384394
|
|
NM_001042492.3(NF1):c.5539C>G (p.Pro1847Ala)
|
rs2069384394
|
|
NM_001042492.3(NF1):c.5539C>T (p.Pro1847Ser)
|
rs2069384394
|
|
NM_001042492.3(NF1):c.553G>A (p.Val185Met)
|
|
|
NM_001042492.3(NF1):c.553G>T (p.Val185Leu)
|
|
|
NM_001042492.3(NF1):c.5540C>G (p.Pro1847Arg)
|
rs1555533631
|
|
NM_001042492.3(NF1):c.5545G>C (p.Asp1849His)
|
|
|
NM_001042492.3(NF1):c.5546A>G (p.Asp1849Gly)
|
|
|
NM_001042492.3(NF1):c.5546A>T (p.Asp1849Val)
|
rs1170679293
|
|
NM_001042492.3(NF1):c.5548G>A (p.Val1850Ile)
|
rs1597832397
|
|
NM_001042492.3(NF1):c.5548G>T (p.Val1850Phe)
|
rs1597832397
|
|
NM_001042492.3(NF1):c.5549T>A (p.Val1850Asp)
|
rs1555533637
|
|
NM_001042492.3(NF1):c.5549T>C (p.Val1850Ala)
|
rs1555533637
|
|
NM_001042492.3(NF1):c.5549T>G (p.Val1850Gly)
|
rs1555533637
|
|
NM_001042492.3(NF1):c.5551_5552delinsTT (p.Pro1851Phe)
|
rs2151541748
|
|
NM_001042492.3(NF1):c.5552C>G (p.Pro1851Arg)
|
rs1555533638
|
|
NM_001042492.3(NF1):c.5552C>T (p.Pro1851Leu)
|
rs1555533638
|
|
NM_001042492.3(NF1):c.5554G>A (p.Gly1852Arg)
|
rs1436590774
|
|
NM_001042492.3(NF1):c.5558C>G (p.Thr1853Arg)
|
rs2069385223
|
|
NM_001042492.3(NF1):c.5561T>A (p.Leu1854Gln)
|
rs878853903
|
|
NM_001042492.3(NF1):c.5563C>T (p.Leu1855Phe)
|
rs2069385474
|
|
NM_001042492.3(NF1):c.5564T>A (p.Leu1855His)
|
rs2069385520
|
|
NM_001042492.3(NF1):c.5564T>C (p.Leu1855Pro)
|
rs2069385520
|
|
NM_001042492.3(NF1):c.5566A>G (p.Asn1856Asp)
|
|
|
NM_001042492.3(NF1):c.5569A>G (p.Ile1857Val)
|
|
|
NM_001042492.3(NF1):c.556G>T (p.Asp186Tyr)
|
rs1567820765
|
|
NM_001042492.3(NF1):c.5571C>G (p.Ile1857Met)
|
rs771837192
|
|
NM_001042492.3(NF1):c.5572G>A (p.Ala1858Thr)
|
rs786203416
|
|
NM_001042492.3(NF1):c.5572G>T (p.Ala1858Ser)
|
rs786203416
|
|
NM_001042492.3(NF1):c.5577A>C (p.Leu1859Phe)
|
rs876659180
|
|
NM_001042492.3(NF1):c.5578C>A (p.Leu1860Ile)
|
rs746689492
|
|
NM_001042492.3(NF1):c.5582A>G (p.Asn1861Ser)
|
rs1555533647
|
|
NM_001042492.3(NF1):c.5582A>T (p.Asn1861Ile)
|
rs1555533647
|
|
NM_001042492.3(NF1):c.5587G>A (p.Gly1863Ser)
|
rs1060500332
|
|
NM_001042492.3(NF1):c.5588G>A (p.Gly1863Asp)
|
rs1597832460
|
|
NM_001042492.3(NF1):c.5590A>T (p.Ser1864Cys)
|
rs2151541898
|
|
NM_001042492.3(NF1):c.5591G>A (p.Ser1864Asn)
|
rs1567612716
|
|
NM_001042492.3(NF1):c.5591G>C (p.Ser1864Thr)
|
rs1567612716
|
|
NM_001042492.3(NF1):c.5591G>T (p.Ser1864Ile)
|
|
|
NM_001042492.3(NF1):c.5594C>G (p.Ser1865Cys)
|
|
|
NM_001042492.3(NF1):c.5597A>G (p.Asp1866Gly)
|
|
|
NM_001042492.3(NF1):c.559T>A (p.Cys187Ser)
|
|
|
NM_001042492.3(NF1):c.5600C>T (p.Pro1867Leu)
|
|
|
NM_001042492.3(NF1):c.5605T>A (p.Leu1869Ile)
|
|
|
NM_001042492.3(NF1):c.5608C>A (p.Arg1870=)
|
rs1049849034
|
|
NM_001042492.3(NF1):c.5608C>G (p.Arg1870Gly)
|
|
|
NM_001042492.3(NF1):c.5608C>T (p.Arg1870Trp)
|
|
|
NM_001042492.3(NF1):c.5609+3A>G
|
rs2151541987
|
|
NM_001042492.3(NF1):c.5609+3A>T
|
rs2151541987
|
|
NM_001042492.3(NF1):c.5609+4G>A
|
|
|
NM_001042492.3(NF1):c.5609+4G>C
|
rs2069386889
|
|
NM_001042492.3(NF1):c.5609+5G>T
|
rs1597832498
|
|
NM_001042492.3(NF1):c.5609G>C (p.Arg1870Pro)
|
|
|
NM_001042492.3(NF1):c.5610-13T>G
|
|
|
NM_001042492.3(NF1):c.5610-15T>G
|
|
|
NM_001042492.3(NF1):c.5610-17T>G
|
|
|
NM_001042492.3(NF1):c.5610-3T>C
|
rs2069447812
|
|
NM_001042492.3(NF1):c.5610-5C>G
|
rs2151544379
|
|
NM_001042492.3(NF1):c.5615C>T (p.Ala1872Val)
|
|
|
NM_001042492.3(NF1):c.5617G>A (p.Ala1873Thr)
|
rs1597834618
|
|
NM_001042492.3(NF1):c.5619C>G (p.Ala1873=)
|
rs786203335
|
|
NM_001042492.3(NF1):c.5621A>T (p.Tyr1874Phe)
|
|
|
NM_001042492.3(NF1):c.5625T>A (p.Asn1875Lys)
|
rs1275173622
|
|
NM_001042492.3(NF1):c.5625TCT[1] (p.Leu1877del)
|
rs1131691081
|
|
NM_001042492.3(NF1):c.5627T>C (p.Leu1876Pro)
|
|
|
NM_001042492.3(NF1):c.562G>A (p.Ala188Thr)
|
rs778975931
|
|
NM_001042492.3(NF1):c.562G>C (p.Ala188Pro)
|
|
|
NM_001042492.3(NF1):c.5630T>G (p.Leu1877Arg)
|
rs2069448419
|
|
NM_001042492.3(NF1):c.5636C>T (p.Ala1879Val)
|
rs1555533845
|
|
NM_001042492.3(NF1):c.5639T>C (p.Leu1880Ser)
|
rs1567613595
|
|
NM_001042492.3(NF1):c.563C>A (p.Ala188Glu)
|
rs1060500309
|
|
NM_001042492.3(NF1):c.5641A>C (p.Thr1881Pro)
|
|
|
NM_001042492.3(NF1):c.5642C>A (p.Thr1881Asn)
|
rs876658349
|
|
NM_001042492.3(NF1):c.5642C>T (p.Thr1881Ile)
|
rs876658349
|
|
NM_001042492.3(NF1):c.5645G>A (p.Cys1882Tyr)
|
rs1597834656
|
|
NM_001042492.3(NF1):c.5646T>G (p.Cys1882Trp)
|
rs1597834659
|
|
NM_001042492.3(NF1):c.5648C>T (p.Thr1883Ile)
|
|
|
NM_001042492.3(NF1):c.5650T>G (p.Phe1884Val)
|
rs1060500378
|
|
NM_001042492.3(NF1):c.5651T>G (p.Phe1884Cys)
|
|
|
NM_001042492.3(NF1):c.5654A>G (p.Asn1885Ser)
|
|
|
NM_001042492.3(NF1):c.5654A>T (p.Asn1885Ile)
|
|
|
NM_001042492.3(NF1):c.5661A>G (p.Lys1887=)
|
rs149759456
|
|
NM_001042492.3(NF1):c.5662A>T (p.Ile1888Phe)
|
rs863224662
|
|
NM_001042492.3(NF1):c.5668G>A (p.Gly1890Ser)
|
|
|
NM_001042492.3(NF1):c.5668G>T (p.Gly1890Cys)
|
rs1597834706
|
|
NM_001042492.3(NF1):c.5669G>A (p.Gly1890Asp)
|
|
|
NM_001042492.3(NF1):c.5669G>T (p.Gly1890Val)
|
rs1567613630
|
|
NM_001042492.3(NF1):c.5671C>G (p.Gln1891Glu)
|
|
|
NM_001042492.3(NF1):c.5672A>C (p.Gln1891Pro)
|
|
|
NM_001042492.3(NF1):c.5673G>T (p.Gln1891His)
|
rs1555533857
|
|
NM_001042492.3(NF1):c.5676A>C (p.Leu1892Phe)
|
rs876658130
|
|
NM_001042492.3(NF1):c.5676A>T (p.Leu1892Phe)
|
|
|
NM_001042492.3(NF1):c.5677C>G (p.Leu1893Val)
|
|
|
NM_001042492.3(NF1):c.5681A>G (p.Glu1894Gly)
|
|
|
NM_001042492.3(NF1):c.5682_5683delinsCT (p.Glu1894_Thr1895delinsAspSer)
|
rs2151544601
|
|
NM_001042492.3(NF1):c.5689G>A (p.Gly1897Ser)
|
rs368201829
|
|
NM_001042492.3(NF1):c.5690G>T (p.Gly1897Val)
|
rs1597834751
|
|
NM_001042492.3(NF1):c.5694A>G (p.Leu1898=)
|
rs1555533863
|
|
NM_001042492.3(NF1):c.5699T>C (p.Ile1900Thr)
|
|
|
NM_001042492.3(NF1):c.5702C>T (p.Pro1901Leu)
|
rs2069451171
|
|
NM_001042492.3(NF1):c.5705C>A (p.Ala1902Asp)
|
rs1465309384
|
|
NM_001042492.3(NF1):c.5705C>G (p.Ala1902Gly)
|
|
|
NM_001042492.3(NF1):c.5705C>T (p.Ala1902Val)
|
rs1465309384
|
|
NM_001042492.3(NF1):c.5709C>G (p.Asn1903Lys)
|
rs1597834780
|
|
NM_001042492.3(NF1):c.570A>T (p.Leu190Phe)
|
rs2143708067
|
|
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.5719T>C (p.Phe1907Leu)
|
rs876660040
|
|
NM_001042492.3(NF1):c.5720T>A (p.Phe1907Tyr)
|
rs1567613677
|
|
NM_001042492.3(NF1):c.5721T>A (p.Phe1907Leu)
|
rs1555533868
|
|
NM_001042492.3(NF1):c.5725G>A (p.Val1909Ile)
|
|
|
NM_001042492.3(NF1):c.5729C>G (p.Ser1910Cys)
|
rs751904277
|
|
NM_001042492.3(NF1):c.5729C>T (p.Ser1910Phe)
|
rs751904277
|
|
NM_001042492.3(NF1):c.572A>C (p.Lys191Thr)
|
rs1555607113
|
|
NM_001042492.3(NF1):c.5731A>T (p.Ile1911Phe)
|
|
|
NM_001042492.3(NF1):c.5732T>A (p.Ile1911Asn)
|
rs1597834839
|
|
NM_001042492.3(NF1):c.5732T>C (p.Ile1911Thr)
|
rs1597834839
|
|
NM_001042492.3(NF1):c.5733_5734delinsAC (p.Ser1912Arg)
|
rs2069452266
|
|
NM_001042492.3(NF1):c.5734_5735insATA (p.Ile1911_Ser1912insAsn)
|
|
|
NM_001042492.3(NF1):c.5735G>A (p.Ser1912Asn)
|
|
|
NM_001042492.3(NF1):c.5736T>G (p.Ser1912Arg)
|
|
|
NM_001042492.3(NF1):c.5738_5740dup (p.Lys1913_Thr1914insLys)
|
|
|
NM_001042492.3(NF1):c.5740A>C (p.Thr1914Pro)
|
rs2069452483
|
|
NM_001042492.3(NF1):c.5741C>A (p.Thr1914Lys)
|
rs1555533873
|
|
NM_001042492.3(NF1):c.5742A>G (p.Thr1914=)
|
|
|
NM_001042492.3(NF1):c.5743C>G (p.Leu1915Val)
|
|
|
NM_001042492.3(NF1):c.5746G>C (p.Ala1916Pro)
|
rs62070718
|
|
NM_001042492.3(NF1):c.5746G>T (p.Ala1916Ser)
|
rs62070718
|
|
NM_001042492.3(NF1):c.5747C>T (p.Ala1916Val)
|
|
|
NM_001042492.3(NF1):c.5750C>A (p.Ala1917Asp)
|
rs2069452996
|
|
NM_001042492.3(NF1):c.5750C>G (p.Ala1917Gly)
|
rs2069452996
|
|
NM_001042492.3(NF1):c.5752A>C (p.Asn1918His)
|
rs750915711
|
|
NM_001042492.3(NF1):c.5752A>G (p.Asn1918Asp)
|
|
|
NM_001042492.3(NF1):c.5755G>A (p.Glu1919Lys)
|
rs1227869359
|
|
NM_001042492.3(NF1):c.5756A>T (p.Glu1919Val)
|
|
|
NM_001042492.3(NF1):c.5762A>G (p.His1921Arg)
|
rs2151544881
|
|
NM_001042492.3(NF1):c.5764C>T (p.Leu1922Phe)
|
rs1597834892
|
|
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.5773G>C (p.Glu1925Gln)
|
|
|
NM_001042492.3(NF1):c.5775A>T (p.Glu1925Asp)
|
rs2151544922
|
|
NM_001042492.3(NF1):c.5780T>G (p.Leu1927Trp)
|
rs2151544934
|
|
NM_001042492.3(NF1):c.5783A>G (p.Glu1928Gly)
|
rs2069453957
|
|
NM_001042492.3(NF1):c.5785G>A (p.Glu1929Lys)
|
rs2069454068
|
|
NM_001042492.3(NF1):c.5785G>C (p.Glu1929Gln)
|
|
|
NM_001042492.3(NF1):c.5786A>C (p.Glu1929Ala)
|
|
|
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>A (p.Cys1930Ser)
|
rs2069454402
|
|
NM_001042492.3(NF1):c.5789G>A (p.Cys1930Tyr)
|
rs755138009
|
|
NM_001042492.3(NF1):c.5792T>A (p.Ile1931Asn)
|
|
|
NM_001042492.3(NF1):c.5797G>A (p.Gly1933Arg)
|
|
|
NM_001042492.3(NF1):c.5800T>A (p.Phe1934Ile)
|
|
|
NM_001042492.3(NF1):c.5800T>C (p.Phe1934Leu)
|
rs2151544983
|
|
NM_001042492.3(NF1):c.5801T>G (p.Phe1934Cys)
|
rs2151544987
|
|
NM_001042492.3(NF1):c.5807A>G (p.Lys1936Arg)
|
rs2069454728
|
|
NM_001042492.3(NF1):c.5810C>A (p.Ser1937Tyr)
|
|
|
NM_001042492.3(NF1):c.5812+2dup
|
rs1597834973
|
|
NM_001042492.3(NF1):c.5812+3A>C
|
rs1597834976
|
|
NM_001042492.3(NF1):c.5812+3A>G
|
rs1597834976
|
|
NM_001042492.3(NF1):c.5812+3_5812+4del
|
rs1555533888
|
|
NM_001042492.3(NF1):c.5812+489C>G
|
|
|
NM_001042492.3(NF1):c.5812+4A>G
|
|
|
NM_001042492.3(NF1):c.5812+5G>T
|
|
|
NM_001042492.3(NF1):c.5812+5_5812+8del
|
|
|
NM_001042492.3(NF1):c.5812+6T>G
|
rs1555533893
|
|
NM_001042492.3(NF1):c.5812A>G (p.Ser1938Gly)
|
rs1555533885
|
|
NM_001042492.3(NF1):c.5813-1042A>G
|
|
|
NM_001042492.3(NF1):c.5813-3C>T
|
rs2151550224
|
|
NM_001042492.3(NF1):c.5813-5T>C
|
rs2151550215
|
|
NM_001042492.3(NF1):c.5813G>A (p.Ser1938Asn)
|
rs906075234
|
|
NM_001042492.3(NF1):c.5814_5815insTTTTT (p.Ile1939fs)
|
rs1481408918
|
|
NM_001042492.3(NF1):c.5815A>G (p.Ile1939Val)
|
rs1173859882
|
|
NM_001042492.3(NF1):c.5815A>T (p.Ile1939Phe)
|
rs1173859882
|
|
NM_001042492.3(NF1):c.5816T>C (p.Ile1939Thr)
|
rs1304057833
|
|
NM_001042492.3(NF1):c.5816T>G (p.Ile1939Ser)
|
rs1304057833
|
|
NM_001042492.3(NF1):c.5825A>G (p.Lys1942Arg)
|
rs2069601534
|
|
NM_001042492.3(NF1):c.5831T>C (p.Leu1944Pro)
|
rs2069601725
|
|
NM_001042492.3(NF1):c.5834G>A (p.Cys1945Tyr)
|
|
|
NM_001042492.3(NF1):c.5836T>A (p.Leu1946Met)
|
rs1422333640
|
|
NM_001042492.3(NF1):c.5836T>G (p.Leu1946Val)
|
|
|
NM_001042492.3(NF1):c.5837T>G (p.Leu1946Trp)
|
rs1597840024
|
|
NM_001042492.3(NF1):c.5842T>C (p.Tyr1948His)
|
rs1057520575
|
|
NM_001042492.3(NF1):c.5845A>T (p.Met1949Leu)
|
rs1597840049
|
|
NM_001042492.3(NF1):c.584A>C (p.Lys195Thr)
|
|
|
NM_001042492.3(NF1):c.5851C>G (p.Pro1951Ala)
|
rs1555534391
|
|
NM_001042492.3(NF1):c.5852C>A (p.Pro1951Gln)
|
|
|
NM_001042492.3(NF1):c.5858T>C (p.Leu1953Pro)
|
rs199474792
|
|
NM_001042492.3(NF1):c.5858T>G (p.Leu1953Arg)
|
rs199474792
|
|
NM_001042492.3(NF1):c.586+10_586+15del
|
rs1555607130
|
|
NM_001042492.3(NF1):c.586+3A>G
|
rs2065905008
|
|
NM_001042492.3(NF1):c.586+3A>T
|
|
|
NM_001042492.3(NF1):c.586+4A>G
|
rs1597644028
|
|
NM_001042492.3(NF1):c.586+4dup
|
rs2143708312
|
|
NM_001042492.3(NF1):c.586+5G>C
|
rs1060500284
|
|
NM_001042492.3(NF1):c.586+5del
|
rs1567820838
|
|
NM_001042492.3(NF1):c.586+664A>G
|
|
|
NM_001042492.3(NF1):c.5861C>T (p.Ser1954Leu)
|
rs2069602711
|
|
NM_001042492.3(NF1):c.5863A>T (p.Asn1955Tyr)
|
rs1567615782
|
|
NM_001042492.3(NF1):c.5864A>G (p.Asn1955Ser)
|
|
|
NM_001042492.3(NF1):c.5866C>A (p.Leu1956Ile)
|
rs747678243
|
|
NM_001042492.3(NF1):c.5866C>G (p.Leu1956Val)
|
|
|
NM_001042492.3(NF1):c.5867T>C (p.Leu1956Pro)
|
rs1597840087
|
|
NM_001042492.3(NF1):c.5867T>G (p.Leu1956Arg)
|
rs1597840087
|
|
NM_001042492.3(NF1):c.586G>A (p.Glu196Lys)
|
rs876659079
|
|
NM_001042492.3(NF1):c.586G>C (p.Glu196Gln)
|
rs876659079
|
|
NM_001042492.3(NF1):c.587-12T>C
|
|
|
NM_001042492.3(NF1):c.587-14T>A
|
rs940581106
|
|
NM_001042492.3(NF1):c.587-3C>G
|
rs375188075
|
|
NM_001042492.3(NF1):c.587-5dup
|
rs759349569
|
|
NM_001042492.3(NF1):c.5870T>C (p.Val1957Ala)
|
rs2069602993
|
|
NM_001042492.3(NF1):c.5870T>G (p.Val1957Gly)
|
|
|
NM_001042492.3(NF1):c.5873G>A (p.Arg1958His)
|
|
|
NM_001042492.3(NF1):c.5882A>G (p.Lys1961Arg)
|
rs2069603347
|
|
NM_001042492.3(NF1):c.5885A>C (p.His1962Pro)
|
rs1555534402
|
|
NM_001042492.3(NF1):c.5885A>G (p.His1962Arg)
|
rs1555534402
|
|
NM_001042492.3(NF1):c.5887_5889del (p.Asn1963del)
|
rs1555534403
|
|
NM_001042492.3(NF1):c.5890G>A (p.Asp1964Asn)
|
|
|
NM_001042492.3(NF1):c.5893G>A (p.Asp1965Asn)
|
|
|
NM_001042492.3(NF1):c.5894A>T (p.Asp1965Val)
|
rs2151550455
|
|
NM_001042492.3(NF1):c.5896_5897delinsAT (p.Ala1966Ile)
|
rs2151550467
|
|
NM_001042492.3(NF1):c.5897C>T (p.Ala1966Val)
|
|
|
NM_001042492.3(NF1):c.589A>G (p.Thr197Ala)
|
rs1171626658
|
|
NM_001042492.3(NF1):c.5900A>G (p.Lys1967Arg)
|
rs1567615807
|
|
NM_001042492.3(NF1):c.5903G>A (p.Arg1968Gln)
|
|
|
NM_001042492.3(NF1):c.5906A>G (p.Gln1969Arg)
|
|
|
NM_001042492.3(NF1):c.590C>G (p.Thr197Arg)
|
rs1597658021
|
|
NM_001042492.3(NF1):c.590C>T (p.Thr197Ile)
|
|
|
NM_001042492.3(NF1):c.5911G>A (p.Val1971Ile)
|
rs2069605938
|
|
NM_001042492.3(NF1):c.5918C>G (p.Ala1973Gly)
|
rs1597840153
|
|
NM_001042492.3(NF1):c.5918C>T (p.Ala1973Val)
|
rs1597840153
|
|
NM_001042492.3(NF1):c.5920A>G (p.Ile1974Val)
|
rs1597840159
|
|
NM_001042492.3(NF1):c.5924T>A (p.Leu1975His)
|
rs1555534411
|
|
NM_001042492.3(NF1):c.5924T>C (p.Leu1975Pro)
|
rs1555534411
|
|
NM_001042492.3(NF1):c.5926G>C (p.Asp1976His)
|
|
|
NM_001042492.3(NF1):c.5928C>A (p.Asp1976Glu)
|
rs568852704
|
|
NM_001042492.3(NF1):c.5928C>G (p.Asp1976Glu)
|
rs568852704
|
|
NM_001042492.3(NF1):c.592G>A (p.Ala198Thr)
|
rs1555608643
|
|
NM_001042492.3(NF1):c.5930A>G (p.Lys1977Arg)
|
rs1555534416
|
|
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.5935A>G (p.Ile1979Val)
|
rs775480099
|
|
NM_001042492.3(NF1):c.5935A>T (p.Ile1979Leu)
|
rs775480099
|
|
NM_001042492.3(NF1):c.5936T>G (p.Ile1979Arg)
|
|
|
NM_001042492.3(NF1):c.5937A>G (p.Ile1979Met)
|
rs1555534418
|
|
NM_001042492.3(NF1):c.5939C>T (p.Thr1980Ile)
|
rs1060500336
|
|
NM_001042492.3(NF1):c.593C>A (p.Ala198Glu)
|
rs863224663
|
|
NM_001042492.3(NF1):c.593C>T (p.Ala198Val)
|
rs863224663
|
|
NM_001042492.3(NF1):c.5943G>T (p.Met1981Ile)
|
|
|
NM_001042492.3(NF1):c.5945C>A (p.Thr1982Asn)
|
rs1336219677
|
|
NM_001042492.3(NF1):c.5945C>G (p.Thr1982Ser)
|
|
|
NM_001042492.3(NF1):c.5953G>A (p.Glu1985Lys)
|
rs1567615890
|
|
NM_001042492.3(NF1):c.5954A>T (p.Glu1985Val)
|
|
|
NM_001042492.3(NF1):c.5957A>G (p.Lys1986Arg)
|
rs2069607779
|
|
NM_001042492.3(NF1):c.5959C>G (p.Gln1987Glu)
|
rs876659070
|
|
NM_001042492.3(NF1):c.5960A>G (p.Gln1987Arg)
|
rs2151550646
|
|
NM_001042492.3(NF1):c.5961G>C (p.Gln1987His)
|
rs757536610
|
|
NM_001042492.3(NF1):c.596T>A (p.Phe199Tyr)
|
|
|
NM_001042492.3(NF1):c.5971T>A (p.Ser1991Thr)
|
|
|
NM_001042492.3(NF1):c.5974A>G (p.Ile1992Val)
|
|
|
NM_001042492.3(NF1):c.5974A>T (p.Ile1992Phe)
|
rs1597840279
|
|
NM_001042492.3(NF1):c.5977C>G (p.Gln1993Glu)
|
|
|
NM_001042492.3(NF1):c.5984A>G (p.Lys1995Arg)
|
rs1567615913
|
|
NM_001042492.3(NF1):c.5988A>G (p.Ile1996Met)
|
|
|
NM_001042492.3(NF1):c.5989T>C (p.Trp1997Arg)
|
rs1597840306
|
|
NM_001042492.3(NF1):c.5992G>A (p.Gly1998Arg)
|
rs1555534426
|
|
NM_001042492.3(NF1):c.5995A>T (p.Ser1999Cys)
|
rs753703741
|
|
NM_001042492.3(NF1):c.5997C>A (p.Ser1999Arg)
|
rs2069608865
|
|
NM_001042492.3(NF1):c.5997C>G (p.Ser1999Arg)
|
|
|
NM_001042492.3(NF1):c.5998C>G (p.Leu2000Val)
|
rs1555534429
|
|
NM_001042492.3(NF1):c.5998C>T (p.Leu2000Phe)
|
rs1555534429
|
|
NM_001042492.3(NF1):c.5999T>C (p.Leu2000Pro)
|
rs2069608977
|
|
NM_001042492.3(NF1):c.599A>C (p.Lys200Thr)
|
|
|
NM_001042492.3(NF1):c.599A>T (p.Lys200Ile)
|
rs1597658055
|
|
NM_001042492.3(NF1):c.60+29485G>A
|
|
|
NM_001042492.3(NF1):c.6001G>C (p.Gly2001Arg)
|
rs199474751
|
|
NM_001042492.3(NF1):c.6002G>A (p.Gly2001Glu)
|
rs878853905
|
|
NM_001042492.3(NF1):c.6002G>T (p.Gly2001Val)
|
rs878853905
|
|
NM_001042492.3(NF1):c.6005A>C (p.Gln2002Pro)
|
|
|
NM_001042492.3(NF1):c.6006+5T>C
|
|
|
NM_001042492.3(NF1):c.6006+5_6006+25del
|
rs1555534435
|
|
NM_001042492.3(NF1):c.6006+6G>T
|
|
|
NM_001042492.3(NF1):c.6006G>C (p.Gln2002His)
|
rs1555534432
|
|
NM_001042492.3(NF1):c.6006G>T (p.Gln2002His)
|
rs1555534432
|
|
NM_001042492.3(NF1):c.6009T>G (p.Ile2003Met)
|
|
|
NM_001042492.3(NF1):c.600A>C (p.Lys200Asn)
|
|
|
NM_001042492.3(NF1):c.6010A>G (p.Thr2004Ala)
|
|
|
NM_001042492.3(NF1):c.6010A>T (p.Thr2004Ser)
|
rs2069668251
|
|
NM_001042492.3(NF1):c.6011C>T (p.Thr2004Ile)
|
rs1597842207
|
|
NM_001042492.3(NF1):c.6013G>A (p.Asp2005Asn)
|
rs876658702
|
|
NM_001042492.3(NF1):c.6013G>C (p.Asp2005His)
|
rs876658702
|
|
NM_001042492.3(NF1):c.6014A>T (p.Asp2005Val)
|
rs2151553171
|
|
NM_001042492.3(NF1):c.6015T>G (p.Asp2005Glu)
|
rs2151553173
|
|
NM_001042492.3(NF1):c.6016C>G (p.Leu2006Val)
|
rs2151553176
|
|
NM_001042492.3(NF1):c.6018_6020del (p.Leu2007del)
|
rs2151553179
|
|
NM_001042492.3(NF1):c.6019C>G (p.Leu2007Val)
|
|
|
NM_001042492.3(NF1):c.6020T>C (p.Leu2007Pro)
|
|
|
NM_001042492.3(NF1):c.6020T>G (p.Leu2007Arg)
|
rs2069668597
|
|
NM_001042492.3(NF1):c.6023A>T (p.Asp2008Val)
|
rs2069668717
|
|
NM_001042492.3(NF1):c.6024TGT[1] (p.Val2010del)
|
rs2069668833
|
|
NM_001042492.3(NF1):c.6025G>T (p.Val2009Phe)
|
|
|
NM_001042492.3(NF1):c.6028G>A (p.Val2010Ile)
|
|
|
NM_001042492.3(NF1):c.6028G>C (p.Val2010Leu)
|
|
|
NM_001042492.3(NF1):c.6029T>A (p.Val2010Glu)
|
rs2151553215
|
|
NM_001042492.3(NF1):c.602T>G (p.Phe201Cys)
|
rs2066131098
|
|
NM_001042492.3(NF1):c.6031C>G (p.Leu2011Val)
|
rs1567616649
|
|
NM_001042492.3(NF1):c.6032T>C (p.Leu2011Pro)
|
rs878853906
|
|
NM_001042492.3(NF1):c.6034G>C (p.Asp2012His)
|
rs199474783
|
|
NM_001042492.3(NF1):c.6037A>G (p.Ser2013Gly)
|
rs876658710
|
|
NM_001042492.3(NF1):c.6038G>A (p.Ser2013Asn)
|
rs1567616663
|
|
NM_001042492.3(NF1):c.6041T>G (p.Phe2014Cys)
|
rs1000572454
|
|
NM_001042492.3(NF1):c.6043A>G (p.Ile2015Val)
|
rs2151553260
|
|
NM_001042492.3(NF1):c.6044T>C (p.Ile2015Thr)
|
rs2069669370
|
|
NM_001042492.3(NF1):c.6047A>C (p.Lys2016Thr)
|
|
|
NM_001042492.3(NF1):c.6049A>C (p.Thr2017Pro)
|
|
|
NM_001042492.3(NF1):c.604A>G (p.Lys202Glu)
|
rs2143774078
|
|
NM_001042492.3(NF1):c.6050C>T (p.Thr2017Ile)
|
|
|
NM_001042492.3(NF1):c.6052A>C (p.Ser2018Arg)
|
rs2151553286
|
|
NM_001042492.3(NF1):c.6052A>G (p.Ser2018Gly)
|
rs2151553286
|
|
NM_001042492.3(NF1):c.6053G>A (p.Ser2018Asn)
|
rs2069669492
|
|
NM_001042492.3(NF1):c.6055G>C (p.Ala2019Pro)
|
rs2069669625
|
|
NM_001042492.3(NF1):c.6056C>T (p.Ala2019Val)
|
rs1567616673
|
|
NM_001042492.3(NF1):c.6058A>G (p.Thr2020Ala)
|
rs1597842258
|
|
NM_001042492.3(NF1):c.6061G>A (p.Gly2021Ser)
|
|
|
NM_001042492.3(NF1):c.6061G>C (p.Gly2021Arg)
|
rs2151553314
|
|
NM_001042492.3(NF1):c.6061G>T (p.Gly2021Cys)
|
|
|
NM_001042492.3(NF1):c.6062G>A (p.Gly2021Asp)
|
rs1555534605
|
|
NM_001042492.3(NF1):c.6062G>C (p.Gly2021Ala)
|
|
|
NM_001042492.3(NF1):c.6062G>T (p.Gly2021Val)
|
|
|
NM_001042492.3(NF1):c.6065G>T (p.Gly2022Val)
|
rs1555534606
|
|
NM_001042492.3(NF1):c.6069G>C (p.Leu2023Phe)
|
rs1555534607
|
|
NM_001042492.3(NF1):c.6076A>G (p.Ile2026Val)
|
rs1376868609
|
|
NM_001042492.3(NF1):c.607G>A (p.Ala203Thr)
|
rs904361724
|
|
NM_001042492.3(NF1):c.6082G>C (p.Ala2028Pro)
|
rs767869530
|
|
NM_001042492.3(NF1):c.6089T>C (p.Val2030Ala)
|
|
|
NM_001042492.3(NF1):c.608C>G (p.Ala203Gly)
|
|
|
NM_001042492.3(NF1):c.6091A>T (p.Met2031Leu)
|
|
|
NM_001042492.3(NF1):c.6092T>A (p.Met2031Lys)
|
rs753624907
|
|
NM_001042492.3(NF1):c.6092T>G (p.Met2031Arg)
|
|
|
NM_001042492.3(NF1):c.6093G>A (p.Met2031Ile)
|
rs1597842296
|
|
NM_001042492.3(NF1):c.6099T>A (p.Asp2033Glu)
|
rs1597842300
|
|
NM_001042492.3(NF1):c.61-13_61-12del
|
rs2143624815
|
|
NM_001042492.3(NF1):c.61-3del
|
|
|
NM_001042492.3(NF1):c.61-7464_61-7440del
|
rs1479491862
|
|
NM_001042492.3(NF1):c.61-7486G>C
|
|
|
NM_001042492.3(NF1):c.6101C>T (p.Thr2034Ile)
|
rs1567616695
|
|
NM_001042492.3(NF1):c.6103G>C (p.Ala2035Pro)
|
|
|
NM_001042492.3(NF1):c.6104C>A (p.Ala2035Asp)
|
rs2151553465
|
|
NM_001042492.3(NF1):c.6109G>A (p.Ala2037Thr)
|
rs1555534612
|
|
NM_001042492.3(NF1):c.610C>G (p.Leu204Val)
|
rs1460076498
|
|
NM_001042492.3(NF1):c.6116C>T (p.Ala2039Val)
|
rs1555534614
|
|
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.6121G>A (p.Gly2041Arg)
|
rs1555534616
|
|
NM_001042492.3(NF1):c.6122G>A (p.Gly2041Glu)
|
rs2151553528
|
|
NM_001042492.3(NF1):c.6124A>G (p.Asn2042Asp)
|
rs2151553540
|
|
NM_001042492.3(NF1):c.6127G>A (p.Val2043Met)
|
|
|
NM_001042492.3(NF1):c.6130A>G (p.Lys2044Glu)
|
|
|
NM_001042492.3(NF1):c.6137T>C (p.Val2046Ala)
|
|
|
NM_001042492.3(NF1):c.6137T>G (p.Val2046Gly)
|
|
|
NM_001042492.3(NF1):c.6141A>C (p.Ser2047=)
|
rs2069671830
|
|
NM_001042492.3(NF1):c.6143G>A (p.Ser2048Asn)
|
rs2151553604
|
|
NM_001042492.3(NF1):c.6146A>C (p.Lys2049Thr)
|
|
|
NM_001042492.3(NF1):c.6146A>T (p.Lys2049Met)
|
|
|
NM_001042492.3(NF1):c.6147+3A>G
|
rs1014307120
|
|
NM_001042492.3(NF1):c.6147+5T>A
|
rs1597842332
|
|
NM_001042492.3(NF1):c.6147+5T>C
|
rs1597842332
|
|
NM_001042492.3(NF1):c.6147G>A (p.Lys2049=)
|
|
|
NM_001042492.3(NF1):c.6147G>C (p.Lys2049Asn)
|
rs1135402882
|
|
NM_001042492.3(NF1):c.6148-12G>C
|
rs562331001
|
|
NM_001042492.3(NF1):c.6148-16T>G
|
rs769223408
|
|
NM_001042492.3(NF1):c.6148-3C>G
|
rs1597842697
|
|
NM_001042492.3(NF1):c.6148-4A>T
|
rs1597842686
|
|
NM_001042492.3(NF1):c.6148-5T>C
|
rs1597842678
|
|
NM_001042492.3(NF1):c.6148G>A (p.Val2050Ile)
|
|
|
NM_001042492.3(NF1):c.614A>G (p.Lys205Arg)
|
rs1555608659
|
|
NM_001042492.3(NF1):c.6151A>G (p.Ile2051Val)
|
|
|
NM_001042492.3(NF1):c.6154G>A (p.Gly2052Arg)
|
rs2069681516
|
|
NM_001042492.3(NF1):c.6157A>G (p.Arg2053Gly)
|
|
|
NM_001042492.3(NF1):c.6158G>A (p.Arg2053Lys)
|
rs1060500289
|
|
NM_001042492.3(NF1):c.6158G>C (p.Arg2053Thr)
|
rs1060500289
|
|
NM_001042492.3(NF1):c.6159G>C (p.Arg2053Ser)
|
|
|
NM_001042492.3(NF1):c.615G>A (p.Lys205=)
|
rs1135402794
|
|
NM_001042492.3(NF1):c.6160A>G (p.Met2054Val)
|
rs1037341012
|
|
NM_001042492.3(NF1):c.6160A>T (p.Met2054Leu)
|
rs1037341012
|
|
NM_001042492.3(NF1):c.6161T>A (p.Met2054Lys)
|
rs1555534665
|
|
NM_001042492.3(NF1):c.6161T>C (p.Met2054Thr)
|
rs1555534665
|
|
NM_001042492.3(NF1):c.6162G>A (p.Met2054Ile)
|
rs876660651
|
|
NM_001042492.3(NF1):c.6162G>T (p.Met2054Ile)
|
rs876660651
|
|
NM_001042492.3(NF1):c.6164G>C (p.Cys2055Ser)
|
rs1597842735
|
|
NM_001042492.3(NF1):c.6166A>C (p.Lys2056Gln)
|
rs1555534667
|
|
NM_001042492.3(NF1):c.6169A>G (p.Ile2057Val)
|
|
|
NM_001042492.3(NF1):c.616A>G (p.Lys206Glu)
|
rs1060500269
|
|
NM_001042492.3(NF1):c.6170T>C (p.Ile2057Thr)
|
|
|
NM_001042492.3(NF1):c.6175G>A (p.Asp2059Asn)
|
rs761029453
|
|
NM_001042492.3(NF1):c.6179A>G (p.Lys2060Arg)
|
rs1597842757
|
|
NM_001042492.3(NF1):c.6185G>C (p.Cys2062Ser)
|
rs1555534668
|
|
NM_001042492.3(NF1):c.618G>C (p.Lys206Asn)
|
rs1567825917
|
|
NM_001042492.3(NF1):c.6190T>A (p.Ser2064Thr)
|
|
|
NM_001042492.3(NF1):c.6190T>C (p.Ser2064Pro)
|
|
|
NM_001042492.3(NF1):c.6191C>T (p.Ser2064Phe)
|
rs2069682819
|
|
NM_001042492.3(NF1):c.6196A>G (p.Thr2066Ala)
|
rs1567616928
|
|
NM_001042492.3(NF1):c.6196A>T (p.Thr2066Ser)
|
|
|
NM_001042492.3(NF1):c.619G>T (p.Val207Phe)
|
|
|
NM_001042492.3(NF1):c.61C>A (p.Leu21Ile)
|
|
|
NM_001042492.3(NF1):c.61C>G (p.Leu21Val)
|
rs779453629
|
|
NM_001042492.3(NF1):c.6200C>A (p.Pro2067His)
|
rs2151554428
|
|
NM_001042492.3(NF1):c.6203C>G (p.Thr2068Ser)
|
rs876659172
|
|
NM_001042492.3(NF1):c.6203C>T (p.Thr2068Ile)
|
rs876659172
|
|
NM_001042492.3(NF1):c.6212A>G (p.Gln2071Arg)
|
rs1597842800
|
|
NM_001042492.3(NF1):c.6214C>T (p.His2072Tyr)
|
|
|
NM_001042492.3(NF1):c.6217C>T (p.Leu2073Phe)
|
rs1026776734
|
|
NM_001042492.3(NF1):c.6220A>T (p.Met2074Leu)
|
|
|
NM_001042492.3(NF1):c.6226G>T (p.Asp2076Tyr)
|
|
|
NM_001042492.3(NF1):c.6227A>G (p.Asp2076Gly)
|
rs1597842820
|
|
NM_001042492.3(NF1):c.6229G>A (p.Asp2077Asn)
|
rs1597842830
|
|
NM_001042492.3(NF1):c.6229G>T (p.Asp2077Tyr)
|
rs1597842830
|
|
NM_001042492.3(NF1):c.6230A>G (p.Asp2077Gly)
|
rs1555534684
|
|
NM_001042492.3(NF1):c.6230A>T (p.Asp2077Val)
|
rs1555534684
|
|
NM_001042492.3(NF1):c.6235G>C (p.Ala2079Pro)
|
|
|
NM_001042492.3(NF1):c.6238A>G (p.Ile2080Val)
|
rs2069684102
|
|
NM_001042492.3(NF1):c.6247C>T (p.Arg2083Cys)
|
|
|
NM_001042492.3(NF1):c.6249C>G (p.Arg2083=)
|
rs1567616975
|
|
NM_001042492.3(NF1):c.624_632del (p.Gln209_Ala211del)
|
rs1555608666
|
|
NM_001042492.3(NF1):c.6251A>G (p.Tyr2084Cys)
|
|
|
NM_001042492.3(NF1):c.6257T>C (p.Leu2086Pro)
|
|
|
NM_001042492.3(NF1):c.6263T>C (p.Leu2088Pro)
|
rs137854561
|
|
NM_001042492.3(NF1):c.6268T>C (p.Phe2090Leu)
|
rs2069685496
|
|
NM_001042492.3(NF1):c.6268_6279del (p.Phe2090_Ser2093del)
|
rs2151554649
|
|
NM_001042492.3(NF1):c.6270C>G (p.Phe2090Leu)
|
rs1597842872
|
|
NM_001042492.3(NF1):c.6272A>G (p.Asn2091Ser)
|
rs1555534696
|
|
NM_001042492.3(NF1):c.6276T>G (p.Asn2092Lys)
|
rs2069685829
|
|
NM_001042492.3(NF1):c.6278C>G (p.Ser2093Cys)
|
rs1555534698
|
|
NM_001042492.3(NF1):c.6280C>T (p.Leu2094Phe)
|
rs2069686019
|
|
NM_001042492.3(NF1):c.6283G>A (p.Asp2095Asn)
|
rs1254820959
|
|
NM_001042492.3(NF1):c.6283G>T (p.Asp2095Tyr)
|
|
|
NM_001042492.3(NF1):c.6289G>T (p.Ala2097Ser)
|
|
|
NM_001042492.3(NF1):c.6292G>A (p.Ala2098Thr)
|
rs894460960
|
|
NM_001042492.3(NF1):c.6292G>C (p.Ala2098Pro)
|
rs894460960
|
|
NM_001042492.3(NF1):c.6293C>T (p.Ala2098Val)
|
rs764106639
|
|
NM_001042492.3(NF1):c.6295C>G (p.His2099Asp)
|
|
|
NM_001042492.3(NF1):c.6295C>T (p.His2099Tyr)
|
rs1060500382
|
|
NM_001042492.3(NF1):c.6296A>G (p.His2099Arg)
|
|
|
NM_001042492.3(NF1):c.6296A>T (p.His2099Leu)
|
|
|
NM_001042492.3(NF1):c.6298C>A (p.Leu2100Ile)
|
rs2069686615
|
|
NM_001042492.3(NF1):c.6298C>G (p.Leu2100Val)
|
|
|
NM_001042492.3(NF1):c.6299T>A (p.Leu2100His)
|
|
|
NM_001042492.3(NF1):c.6299T>C (p.Leu2100Pro)
|
rs1555534708
|
|
NM_001042492.3(NF1):c.6299T>G (p.Leu2100Arg)
|
rs1555534708
|
|
NM_001042492.3(NF1):c.6299_6304del (p.Leu2100_Tyr2102delinsHis)
|
|
|
NM_001042492.3(NF1):c.62T>A (p.Leu21His)
|
rs1567814403
|
|
NM_001042492.3(NF1):c.62T>C (p.Leu21Pro)
|
rs1567814403
|
|
NM_001042492.3(NF1):c.6302C>G (p.Pro2101Arg)
|
rs756746198
|
|
NM_001042492.3(NF1):c.6302C>T (p.Pro2101Leu)
|
rs756746198
|
|
NM_001042492.3(NF1):c.6305A>G (p.Tyr2102Cys)
|
|
|
NM_001042492.3(NF1):c.6305A>T (p.Tyr2102Phe)
|
rs1162388561
|
|
NM_001042492.3(NF1):c.6307C>A (p.Leu2103Ile)
|
|
|
NM_001042492.3(NF1):c.6307C>T (p.Leu2103Phe)
|
rs1555534719
|
|
NM_001042492.3(NF1):c.6308T>A (p.Leu2103His)
|
rs2069687450
|
|
NM_001042492.3(NF1):c.6310T>C (p.Phe2104Leu)
|
rs876660000
|
|
NM_001042492.3(NF1):c.6312C>G (p.Phe2104Leu)
|
rs780728198
|
|
NM_001042492.3(NF1):c.6314A>C (p.His2105Pro)
|
rs1555534726
|
|
NM_001042492.3(NF1):c.6316G>C (p.Val2106Leu)
|
rs755791578
|
|
NM_001042492.3(NF1):c.6316GTT[3] (p.Val2107_Thr2108insVal)
|
|
|
NM_001042492.3(NF1):c.6317T>C (p.Val2106Ala)
|
rs1597843007
|
|
NM_001042492.3(NF1):c.6319G>A (p.Val2107Ile)
|
rs2151554822
|
|
NM_001042492.3(NF1):c.6323C>T (p.Thr2108Ile)
|
rs876658920
|
|
NM_001042492.3(NF1):c.6325T>A (p.Phe2109Ile)
|
rs786203627
|
|
NM_001042492.3(NF1):c.6327C>G (p.Phe2109Leu)
|
rs2069688250
|
|
NM_001042492.3(NF1):c.632C>T (p.Ala211Val)
|
rs1555608675
|
|
NM_001042492.3(NF1):c.6338C>A (p.Thr2113Lys)
|
rs768982249
|
|
NM_001042492.3(NF1):c.6338C>T (p.Thr2113Ile)
|
rs768982249
|
|
NM_001042492.3(NF1):c.6340G>T (p.Gly2114Cys)
|
rs1567617070
|
|
NM_001042492.3(NF1):c.6344C>G (p.Pro2115Arg)
|
rs867091831
|
|
NM_001042492.3(NF1):c.6344C>T (p.Pro2115Leu)
|
rs867091831
|
|
NM_001042492.3(NF1):c.6346C>G (p.Leu2116Val)
|
|
|
NM_001042492.3(NF1):c.634G>A (p.Val212Ile)
|
rs2143774495
|
|
NM_001042492.3(NF1):c.6352C>G (p.Leu2118Val)
|
rs2151554931
|
|
NM_001042492.3(NF1):c.6364A>G (p.Thr2122Ala)
|
rs139387354
|
|
NM_001042492.3(NF1):c.6365C>T (p.Thr2122Ile)
|
rs878853907
|
|
NM_001042492.3(NF1):c.6368A>G (p.His2123Arg)
|
rs112546213
|
|
NM_001042492.3(NF1):c.6368A>T (p.His2123Leu)
|
rs112546213
|
|
NM_001042492.3(NF1):c.6370G>A (p.Gly2124Arg)
|
|
|
NM_001042492.3(NF1):c.6373C>G (p.Leu2125Val)
|
rs786204236
|
|
NM_001042492.3(NF1):c.6374T>C (p.Leu2125Pro)
|
rs1597843129
|
|
NM_001042492.3(NF1):c.6376G>A (p.Val2126Ile)
|
rs1567617114
|
|
NM_001042492.3(NF1):c.6377T>A (p.Val2126Asp)
|
rs1597843145
|
|
NM_001042492.3(NF1):c.6377T>G (p.Val2126Gly)
|
rs1597843145
|
|
NM_001042492.3(NF1):c.6379A>T (p.Ile2127Phe)
|
|
|
NM_001042492.3(NF1):c.637A>G (p.Ile213Val)
|
rs2066132329
|
|
NM_001042492.3(NF1):c.6382A>T (p.Asn2128Tyr)
|
rs2151555041
|
|
NM_001042492.3(NF1):c.6385A>G (p.Ile2129Val)
|
rs2151555054
|
|
NM_001042492.3(NF1):c.6386T>C (p.Ile2129Thr)
|
rs1287981187
|
|
NM_001042492.3(NF1):c.6388A>C (p.Ile2130Leu)
|
rs2069690351
|
|
NM_001042492.3(NF1):c.638T>C (p.Ile213Thr)
|
|
|
NM_001042492.3(NF1):c.6394T>C (p.Ser2132Pro)
|
rs2151555087
|
|
NM_001042492.3(NF1):c.6398T>A (p.Leu2133Gln)
|
|
|
NM_001042492.3(NF1):c.6398T>C (p.Leu2133Pro)
|
rs2069690617
|
|
NM_001042492.3(NF1):c.6400T>G (p.Cys2134Gly)
|
|
|
NM_001042492.3(NF1):c.6403A>C (p.Thr2135Pro)
|
rs1555534767
|
|
NM_001042492.3(NF1):c.6403A>G (p.Thr2135Ala)
|
|
|
NM_001042492.3(NF1):c.6403A>T (p.Thr2135Ser)
|
rs1555534767
|
|
NM_001042492.3(NF1):c.6404C>T (p.Thr2135Ile)
|
rs1555534770
|
|
NM_001042492.3(NF1):c.640A>C (p.Asn214His)
|
rs2143774553
|
|
NM_001042492.3(NF1):c.6415C>T (p.Leu2139Phe)
|
|
|
NM_001042492.3(NF1):c.6416T>C (p.Leu2139Pro)
|
|
|
NM_001042492.3(NF1):c.641A>G (p.Asn214Ser)
|
rs746291745
|
|
NM_001042492.3(NF1):c.6421T>G (p.Phe2141Val)
|
rs2069691314
|
|
NM_001042492.3(NF1):c.6424A>C (p.Ser2142Arg)
|
rs1135402886
|
|
NM_001042492.3(NF1):c.6425G>A (p.Ser2142Asn)
|
rs876658896
|
|
NM_001042492.3(NF1):c.6425G>T (p.Ser2142Ile)
|
|
|
NM_001042492.3(NF1):c.6426T>C (p.Ser2142=)
|
rs1060500251
|
|
NM_001042492.3(NF1):c.6427+3A>G
|
|
|
NM_001042492.3(NF1):c.6427+5G>A
|
rs1060500311
|
|
NM_001042492.3(NF1):c.6427+5G>C
|
rs1060500311
|
|
NM_001042492.3(NF1):c.6427+5G>T
|
|
|
NM_001042492.3(NF1):c.6427+8C>A
|
rs864622598
|
|
NM_001042492.3(NF1):c.6428-3C>A
|
rs374014162
|
|
NM_001042492.3(NF1):c.6428-5T>C
|
rs1597843627
|
|
NM_001042492.3(NF1):c.6430G>A (p.Glu2144Lys)
|
|
|
NM_001042492.3(NF1):c.6430G>C (p.Glu2144Gln)
|
|
|
NM_001042492.3(NF1):c.6431A>G (p.Glu2144Gly)
|
rs2069703452
|
|
NM_001042492.3(NF1):c.6432G>C (p.Glu2144Asp)
|
|
|
NM_001042492.3(NF1):c.6432G>T (p.Glu2144Asp)
|
|
|
NM_001042492.3(NF1):c.6434C>T (p.Thr2145Ile)
|
rs1597843658
|
|
NM_001042492.3(NF1):c.6436A>G (p.Lys2146Glu)
|
rs1597843675
|
|
NM_001042492.3(NF1):c.6437A>G (p.Lys2146Arg)
|
rs1597843678
|
|
NM_001042492.3(NF1):c.6439C>A (p.Gln2147Lys)
|
rs1555534859
|
|
NM_001042492.3(NF1):c.643A>T (p.Ser215Cys)
|
rs1331838002
|
|
NM_001042492.3(NF1):c.6440A>G (p.Gln2147Arg)
|
rs1597843700
|
|
NM_001042492.3(NF1):c.6441A>C (p.Gln2147His)
|
rs1597843705
|
|
NM_001042492.3(NF1):c.6449_6460del (p.Arg2150_Leu2153del)
|
rs1555534860
|
|
NM_001042492.3(NF1):c.644G>A (p.Ser215Asn)
|
rs2143774620
|
|
NM_001042492.3(NF1):c.644G>C (p.Ser215Thr)
|
|
|
NM_001042492.3(NF1):c.6458T>C (p.Leu2153Pro)
|
rs2069704188
|
|
NM_001042492.3(NF1):c.6461C>T (p.Thr2154Ile)
|
rs876658495
|
|
NM_001042492.3(NF1):c.6466T>C (p.Phe2156Leu)
|
|
|
NM_001042492.3(NF1):c.646C>G (p.Leu216Val)
|
rs1597658201
|
|
NM_001042492.3(NF1):c.6475C>T (p.Pro2159Ser)
|
rs2151556095
|
|
NM_001042492.3(NF1):c.6478A>C (p.Lys2160Gln)
|
rs2151556114
|
|
NM_001042492.3(NF1):c.6479A>G (p.Lys2160Arg)
|
rs2151556119
|
|
NM_001042492.3(NF1):c.647T>C (p.Leu216Pro)
|
rs199474756
|
|
NM_001042492.3(NF1):c.647T>G (p.Leu216Arg)
|
rs199474756
|
|
NM_001042492.3(NF1):c.6480A>T (p.Lys2160Asn)
|
|
|
NM_001042492.3(NF1):c.6482T>A (p.Phe2161Tyr)
|
|
|
NM_001042492.3(NF1):c.6488T>C (p.Leu2163Ser)
|
rs1353492847
|
|
NM_001042492.3(NF1):c.6489G>C (p.Leu2163Phe)
|
rs2151556147
|
|
NM_001042492.3(NF1):c.6497G>T (p.Gly2166Val)
|
|
|
NM_001042492.3(NF1):c.6499A>C (p.Ile2167Leu)
|
rs2069704731
|
|
NM_001042492.3(NF1):c.6499A>T (p.Ile2167Phe)
|
|
|
NM_001042492.3(NF1):c.64C>G (p.Pro22Ala)
|
rs1597625794
|
|
NM_001042492.3(NF1):c.64C>T (p.Pro22Ser)
|
rs1597625794
|
|
NM_001042492.3(NF1):c.6508G>A (p.Val2170Ile)
|
rs2069704816
|
|
NM_001042492.3(NF1):c.6520G>A (p.Ala2174Thr)
|
rs2069705000
|
|
NM_001042492.3(NF1):c.6521C>T (p.Ala2174Val)
|
rs1555534865
|
|
NM_001042492.3(NF1):c.6522T>C (p.Ala2174=)
|
|
|
NM_001042492.3(NF1):c.6523G>A (p.Val2175Ile)
|
|
|
NM_001042492.3(NF1):c.6523G>C (p.Val2175Leu)
|
|
|
NM_001042492.3(NF1):c.6526A>G (p.Ile2176Val)
|
rs2069705304
|
|
NM_001042492.3(NF1):c.6527T>C (p.Ile2176Thr)
|
rs2069705362
|
|
NM_001042492.3(NF1):c.6534C>T (p.Phe2178=)
|
|
|
NM_001042492.3(NF1):c.6535C>T (p.Arg2179Cys)
|
rs878853908
|
|
NM_001042492.3(NF1):c.6536G>A (p.Arg2179His)
|
rs772639479
|
|
NM_001042492.3(NF1):c.6536G>T (p.Arg2179Leu)
|
rs772639479
|
|
NM_001042492.3(NF1):c.653A>G (p.Lys218Arg)
|
rs1332171832
|
|
NM_001042492.3(NF1):c.654+2dup
|
|
|
NM_001042492.3(NF1):c.654+4del
|
rs1555608683
|
|
NM_001042492.3(NF1):c.6545A>G (p.Tyr2182Cys)
|
rs2069705839
|
|
NM_001042492.3(NF1):c.6548G>A (p.Arg2183Gln)
|
rs2069706142
|
|
NM_001042492.3(NF1):c.6548G>C (p.Arg2183Pro)
|
rs2069706142
|
|
NM_001042492.3(NF1):c.655-3T>G
|
rs746584147
|
|
NM_001042492.3(NF1):c.655-5T>C
|
rs377264487
|
|
NM_001042492.3(NF1):c.655-9T>C
|
rs2143777099
|
|
NM_001042492.3(NF1):c.6550G>A (p.Asp2184Asn)
|
rs1597843887
|
|
NM_001042492.3(NF1):c.6550G>C (p.Asp2184His)
|
|
|
NM_001042492.3(NF1):c.6555G>A (p.Arg2185=)
|
rs786203189
|
|
NM_001042492.3(NF1):c.6556T>C (p.Ser2186Pro)
|
rs765867354
|
|
NM_001042492.3(NF1):c.6559T>C (p.Phe2187Leu)
|
rs1555534876
|
|
NM_001042492.3(NF1):c.6559T>G (p.Phe2187Val)
|
|
|
NM_001042492.3(NF1):c.655G>C (p.Ala219Pro)
|
rs2066137928
|
|
NM_001042492.3(NF1):c.6563C>G (p.Ser2188Cys)
|
|
|
NM_001042492.3(NF1):c.6563C>T (p.Ser2188Phe)
|
rs1555534877
|
|
NM_001042492.3(NF1):c.6566C>T (p.Pro2189Leu)
|
rs2069706766
|
|
NM_001042492.3(NF1):c.6569G>T (p.Gly2190Val)
|
|
|
NM_001042492.3(NF1):c.656C>G (p.Ala219Gly)
|
rs1160353919
|
|
NM_001042492.3(NF1):c.656C>T (p.Ala219Val)
|
rs1160353919
|
|
NM_001042492.3(NF1):c.6571T>C (p.Ser2191Pro)
|
rs754630324
|
|
NM_001042492.3(NF1):c.6571T>G (p.Ser2191Ala)
|
|
|
NM_001042492.3(NF1):c.6572C>G (p.Ser2191Cys)
|
rs765598479
|
|
NM_001042492.3(NF1):c.6572C>T (p.Ser2191Phe)
|
rs765598479
|
|
NM_001042492.3(NF1):c.6574T>C (p.Tyr2192His)
|
rs267606598
|
|
NM_001042492.3(NF1):c.6575A>G (p.Tyr2192Cys)
|
|
|
NM_001042492.3(NF1):c.6575A>T (p.Tyr2192Phe)
|
|
|
NM_001042492.3(NF1):c.6577G>C (p.Glu2193Gln)
|
rs1135402891
|
|
NM_001042492.3(NF1):c.6581G>A (p.Arg2194Lys)
|
rs2069707550
|
|
NM_001042492.3(NF1):c.6583G>C (p.Glu2195Gln)
|
rs1597843959
|
|
NM_001042492.3(NF1):c.6585G>C (p.Glu2195Asp)
|
|
|
NM_001042492.3(NF1):c.6586A>G (p.Thr2196Ala)
|
rs372169109
|
|
NM_001042492.3(NF1):c.6587C>T (p.Thr2196Ile)
|
rs2151556471
|
|
NM_001042492.3(NF1):c.6592G>A (p.Ala2198Thr)
|
rs1555534882
|
|
NM_001042492.3(NF1):c.6593C>G (p.Ala2198Gly)
|
rs1597843976
|
|
NM_001042492.3(NF1):c.6597G>C (p.Leu2199Phe)
|
rs2151556504
|
|
NM_001042492.3(NF1):c.65C>T (p.Pro22Leu)
|
rs2065654347
|
|
NM_001042492.3(NF1):c.6602C>T (p.Ser2201Phe)
|
rs2151556524
|
|
NM_001042492.3(NF1):c.6611C>T (p.Thr2204Ile)
|
rs1597843996
|
|
NM_001042492.3(NF1):c.6616A>C (p.Thr2206Pro)
|
|
|
NM_001042492.3(NF1):c.6616A>G (p.Thr2206Ala)
|
rs781167415
|
|
NM_001042492.3(NF1):c.6617C>T (p.Thr2206Ile)
|
rs1555534885
|
|
NM_001042492.3(NF1):c.6620_6622del (p.Glu2207del)
|
rs2069708499
|
|
NM_001042492.3(NF1):c.6621A>C (p.Glu2207Asp)
|
rs111405163
|
|
NM_001042492.3(NF1):c.6622G>A (p.Ala2208Thr)
|
rs2151556592
|
|
NM_001042492.3(NF1):c.6623C>G (p.Ala2208Gly)
|
rs1555534886
|
|
NM_001042492.3(NF1):c.6623C>T (p.Ala2208Val)
|
rs1555534886
|
|
NM_001042492.3(NF1):c.6625T>G (p.Leu2209Val)
|
rs2151556602
|
|
NM_001042492.3(NF1):c.6630G>A (p.Leu2210=)
|
rs886052801
|
|
NM_001042492.3(NF1):c.6630G>C (p.Leu2210Phe)
|
rs886052801
|
|
NM_001042492.3(NF1):c.6635T>A (p.Ile2212Asn)
|
rs1597844075
|
|
NM_001042492.3(NF1):c.6637A>G (p.Met2213Val)
|
rs864622330
|
|
NM_001042492.3(NF1):c.6638T>C (p.Met2213Thr)
|
|
|
NM_001042492.3(NF1):c.6641A>G (p.Glu2214Gly)
|
|
|
NM_001042492.3(NF1):c.6642+11C>G
|
rs375446476
|
|
NM_001042492.3(NF1):c.6642+18A>G
|
rs1555534893
|
|
NM_001042492.3(NF1):c.6642+26C>G
|
|
|
NM_001042492.3(NF1):c.6642+3A>G
|
rs1555534891
|
|
NM_001042492.3(NF1):c.6642+3A>T
|
|
|
NM_001042492.3(NF1):c.6642+5A>G
|
rs1567617536
|
|
NM_001042492.3(NF1):c.6642+6G>A
|
rs2069709590
|
|
NM_001042492.3(NF1):c.6642+6del
|
rs1597844152
|
|
NM_001042492.3(NF1):c.6642G>A (p.Glu2214=)
|
rs876660207
|
|
NM_001042492.3(NF1):c.6643-10C>T
|
rs1597844527
|
|
NM_001042492.3(NF1):c.6643-18G>C
|
|
|
NM_001042492.3(NF1):c.6643-3T>A
|
rs1326745383
|
|
NM_001042492.3(NF1):c.6643-3T>G
|
rs1326745383
|
|
NM_001042492.3(NF1):c.6643-4T>C
|
rs1555534908
|
|
NM_001042492.3(NF1):c.6643-5T>G
|
rs1555534907
|
|
NM_001042492.3(NF1):c.6644C>T (p.Ala2215Val)
|
rs2069716487
|
|
NM_001042492.3(NF1):c.6646T>C (p.Cys2216Arg)
|
rs757736155
|
|
NM_001042492.3(NF1):c.6647G>A (p.Cys2216Tyr)
|
|
|
NM_001042492.3(NF1):c.6647G>T (p.Cys2216Phe)
|
rs1567617669
|
|
NM_001042492.3(NF1):c.6648C>T (p.Cys2216=)
|
rs1597844556
|
|
NM_001042492.3(NF1):c.6649A>G (p.Met2217Val)
|
rs876658255
|
|
NM_001042492.3(NF1):c.664A>G (p.Asn222Asp)
|
rs2143777490
|
|
NM_001042492.3(NF1):c.6650T>A (p.Met2217Lys)
|
rs2069716815
|
|
NM_001042492.3(NF1):c.6656A>G (p.Asp2219Gly)
|
|
|
NM_001042492.3(NF1):c.6656A>T (p.Asp2219Val)
|
rs1567617676
|
|
NM_001042492.3(NF1):c.6657T>G (p.Asp2219Glu)
|
rs786203831
|
|
NM_001042492.3(NF1):c.6658A>C (p.Ile2220Leu)
|
rs781284066
|
|
NM_001042492.3(NF1):c.6658A>G (p.Ile2220Val)
|
rs781284066
|
|
NM_001042492.3(NF1):c.665A>C (p.Asn222Thr)
|
rs587781709
|
|
NM_001042492.3(NF1):c.6664A>T (p.Thr2222Ser)
|
|
|
NM_001042492.3(NF1):c.6679G>A (p.Asp2227Asn)
|
rs993364800
|
|
NM_001042492.3(NF1):c.6680A>T (p.Asp2227Val)
|
rs1485756462
|
|
NM_001042492.3(NF1):c.6681C>A (p.Asp2227Glu)
|
rs876659371
|
|
NM_001042492.3(NF1):c.6681C>G (p.Asp2227Glu)
|
rs876659371
|
|
NM_001042492.3(NF1):c.6683A>G (p.Gln2228Arg)
|
|
|
NM_001042492.3(NF1):c.6687G>C (p.Trp2229Cys)
|
|
|
NM_001042492.3(NF1):c.6691G>A (p.Glu2231Lys)
|
rs1024484381
|
|
NM_001042492.3(NF1):c.6691G>C (p.Glu2231Gln)
|
|
|
NM_001042492.3(NF1):c.6693A>C (p.Glu2231Asp)
|
rs777588905
|
|
NM_001042492.3(NF1):c.6694C>G (p.Leu2232Val)
|
rs1597844673
|
|
NM_001042492.3(NF1):c.6697G>A (p.Ala2233Thr)
|
rs2069718829
|
|
NM_001042492.3(NF1):c.6698C>T (p.Ala2233Val)
|
|
|
NM_001042492.3(NF1):c.669G>T (p.Trp223Cys)
|
rs1057517967
|
|
NM_001042492.3(NF1):c.6700C>G (p.Gln2234Glu)
|
rs1567617727
|
|
NM_001042492.3(NF1):c.6701A>G (p.Gln2234Arg)
|
rs1597844689
|
|
NM_001042492.3(NF1):c.6702A>G (p.Gln2234=)
|
|
|
NM_001042492.3(NF1):c.6704+4T>C
|
rs1555534930
|
|
NM_001042492.3(NF1):c.6704+5G>A
|
rs2069719353
|
|
NM_001042492.3(NF1):c.6704G>T (p.Arg2235Ile)
|
rs2069719031
|
|
NM_001042492.3(NF1):c.6705-14T>G
|
|
|
NM_001042492.3(NF1):c.6705-17G>A
|
rs1064795966
|
|
NM_001042492.3(NF1):c.6705-3C>T
|
|
|
NM_001042492.3(NF1):c.6705-4del
|
|
|
NM_001042492.3(NF1):c.6705-5T>G
|
rs1597844956
|
|
NM_001042492.3(NF1):c.6705-9T>G
|
|
|
NM_001042492.3(NF1):c.6705-9_6705-8insGCAGATTG
|
rs2069723972
|
|
NM_001042492.3(NF1):c.6706T>A (p.Phe2236Ile)
|
rs2151558031
|
|
NM_001042492.3(NF1):c.6706T>C (p.Phe2236Leu)
|
|
|
NM_001042492.3(NF1):c.670G>C (p.Val224Leu)
|
rs1567826116
|
|
NM_001042492.3(NF1):c.6713T>C (p.Phe2238Ser)
|
rs1555534947
|
|
NM_001042492.3(NF1):c.6714C>A (p.Phe2238Leu)
|
rs2069724756
|
|
NM_001042492.3(NF1):c.6716A>T (p.Gln2239Leu)
|
rs1597844989
|
|
NM_001042492.3(NF1):c.6717A>G (p.Gln2239=)
|
rs2069724967
|
|
NM_001042492.3(NF1):c.6725C>T (p.Pro2242Leu)
|
|
|
NM_001042492.3(NF1):c.6728C>G (p.Ser2243Cys)
|
rs2151558088
|
|
NM_001042492.3(NF1):c.6730C>G (p.Leu2244Val)
|
|
|
NM_001042492.3(NF1):c.6736C>A (p.Pro2246Thr)
|
rs2151558118
|
|
NM_001042492.3(NF1):c.6745C>T (p.Leu2249Phe)
|
|
|
NM_001042492.3(NF1):c.6746T>G (p.Leu2249Arg)
|
rs2151558158
|
|
NM_001042492.3(NF1):c.6748G>C (p.Val2250Leu)
|
|
|
NM_001042492.3(NF1):c.6748G>T (p.Val2250Phe)
|
|
|
NM_001042492.3(NF1):c.6749T>C (p.Val2250Ala)
|
rs1567617869
|
|
NM_001042492.3(NF1):c.6751G>T (p.Val2251Phe)
|
|
|
NM_001042492.3(NF1):c.6756T>G (p.Phe2252Leu)
|
rs1597845056
|
|
NM_001042492.3(NF1):c.6757G>C (p.Gly2253Arg)
|
|
|
NM_001042492.3(NF1):c.6758G>A (p.Gly2253Glu)
|
rs876659295
|
|
NM_001042492.3(NF1):c.6762T>G (p.Cys2254Trp)
|
|
|
NM_001042492.3(NF1):c.6763A>C (p.Ile2255Leu)
|
|
|
NM_001042492.3(NF1):c.6763A>T (p.Ile2255Phe)
|
|
|
NM_001042492.3(NF1):c.6764T>G (p.Ile2255Ser)
|
rs2069726396
|
|
NM_001042492.3(NF1):c.6766A>G (p.Ser2256Gly)
|
|
|
NM_001042492.3(NF1):c.6768C>A (p.Ser2256Arg)
|
|
|
NM_001042492.3(NF1):c.676A>G (p.Asn226Asp)
|
|
|
NM_001042492.3(NF1):c.6771A>T (p.Lys2257Asn)
|
rs2151558249
|
|
NM_001042492.3(NF1):c.6772C>G (p.Arg2258Gly)
|
|
|
NM_001042492.3(NF1):c.6775G>A (p.Val2259Met)
|
rs1348782175
|
|
NM_001042492.3(NF1):c.6775G>T (p.Val2259Leu)
|
|
|
NM_001042492.3(NF1):c.6776T>C (p.Val2259Ala)
|
rs1597845104
|
|
NM_001042492.3(NF1):c.677A>C (p.Asn226Thr)
|
rs770339628
|
|
NM_001042492.3(NF1):c.6781C>G (p.His2261Asp)
|
rs750869272
|
|
NM_001042492.3(NF1):c.6781C>T (p.His2261Tyr)
|
rs750869272
|
|
NM_001042492.3(NF1):c.6782A>C (p.His2261Pro)
|
rs201336602
|
|
NM_001042492.3(NF1):c.6782A>G (p.His2261Arg)
|
rs201336602
|
|
NM_001042492.3(NF1):c.6782A>T (p.His2261Leu)
|
|
|
NM_001042492.3(NF1):c.6784G>T (p.Gly2262Trp)
|
rs1392981001
|
|
NM_001042492.3(NF1):c.6784_6801dup (p.Gly2262_Ile2267dup)
|
rs2151558293
|
|
NM_001042492.3(NF1):c.6787C>A (p.Gln2263Lys)
|
rs2069727121
|
|
NM_001042492.3(NF1):c.6790A>G (p.Ile2264Val)
|
rs761213794
|
|
NM_001042492.3(NF1):c.6791T>A (p.Ile2264Lys)
|
|
|
NM_001042492.3(NF1):c.6792A>G (p.Ile2264Met)
|
|
|
NM_001042492.3(NF1):c.6793A>G (p.Lys2265Glu)
|
|
|
NM_001042492.3(NF1):c.6794A>G (p.Lys2265Arg)
|
rs1060500258
|
|
NM_001042492.3(NF1):c.6794A>T (p.Lys2265Met)
|
rs1060500258
|
|
NM_001042492.3(NF1):c.6798G>T (p.Gln2266His)
|
|
|
NM_001042492.3(NF1):c.6799A>G (p.Ile2267Val)
|
|
|
NM_001042492.3(NF1):c.679T>C (p.Tyr227His)
|
rs780682850
|
|
NM_001042492.3(NF1):c.6800T>C (p.Ile2267Thr)
|
rs1555534957
|
|
NM_001042492.3(NF1):c.6801A>G (p.Ile2267Met)
|
rs876659381
|
|
NM_001042492.3(NF1):c.6805C>G (p.Arg2269Gly)
|
rs1555534961
|
|
NM_001042492.3(NF1):c.6805C>T (p.Arg2269Cys)
|
rs1555534961
|
|
NM_001042492.3(NF1):c.6808A>G (p.Ile2270Val)
|
|
|
NM_001042492.3(NF1):c.680A>G (p.Tyr227Cys)
|
|
|
NM_001042492.3(NF1):c.6811C>G (p.Leu2271Val)
|
|
|
NM_001042492.3(NF1):c.6811C>T (p.Leu2271Phe)
|
rs2151558388
|
|
NM_001042492.3(NF1):c.6815G>C (p.Ser2272Thr)
|
|
|
NM_001042492.3(NF1):c.6818A>G (p.Lys2273Arg)
|
rs1060500344
|
|
NM_001042492.3(NF1):c.6819+3_6819+4del
|
|
|
NM_001042492.3(NF1):c.6819+3del
|
rs2069728377
|
|
NM_001042492.3(NF1):c.6819+4C>A
|
rs755135948
|
|
NM_001042492.3(NF1):c.6819+5C>A
|
rs876659499
|
|
NM_001042492.3(NF1):c.6819G>T (p.Lys2273Asn)
|
rs1060500373
|
|
NM_001042492.3(NF1):c.6820-10T>G
|
rs1597845883
|
|
NM_001042492.3(NF1):c.6820-14T>G
|
|
|
NM_001042492.3(NF1):c.6820-29_6820-5del
|
|
|
NM_001042492.3(NF1):c.6820-3A>G
|
|
|
NM_001042492.3(NF1):c.6820-6T>C
|
rs1597845896
|
|
NM_001042492.3(NF1):c.6820-7C>A
|
rs1555535020
|
|
NM_001042492.3(NF1):c.6820-8C>G
|
rs1060503909
|
|
NM_001042492.3(NF1):c.6820-8C>T
|
rs1060503909
|
|
NM_001042492.3(NF1):c.6821C>G (p.Ala2274Gly)
|
rs2069742248
|
|
NM_001042492.3(NF1):c.6826G>A (p.Glu2276Lys)
|
rs2069742475
|
|
NM_001042492.3(NF1):c.6830G>A (p.Ser2277Asn)
|
rs1597845918
|
|
NM_001042492.3(NF1):c.6832T>A (p.Cys2278Ser)
|
rs2069742802
|
|
NM_001042492.3(NF1):c.6832T>G (p.Cys2278Gly)
|
|
|
NM_001042492.3(NF1):c.6835T>A (p.Leu2279Ile)
|
|
|
NM_001042492.3(NF1):c.6841G>A (p.Gly2281Arg)
|
|
|
NM_001042492.3(NF1):c.6845C>G (p.Pro2282Arg)
|
rs2069743547
|
|
NM_001042492.3(NF1):c.6850A>G (p.Thr2284Ala)
|
rs1597845953
|
|
NM_001042492.3(NF1):c.6853T>C (p.Tyr2285His)
|
|
|
NM_001042492.3(NF1):c.6854ACA[1] (p.Asn2286del)
|
|
|
NM_001042492.3(NF1):c.6854_6855insTGA (p.Tyr2285_Asn2286insAsp)
|
|
|
NM_001042492.3(NF1):c.6855C>T (p.Tyr2285=)
|
rs772295894
|
|
NM_001042492.3(NF1):c.6856A>C (p.Asn2286His)
|
|
|
NM_001042492.3(NF1):c.6858C>G (p.Asn2286Lys)
|
rs2151559216
|
|
NM_001042492.3(NF1):c.685G>C (p.Asp229His)
|
rs2066138591
|
|
NM_001042492.3(NF1):c.6861T>G (p.Ser2287Arg)
|
rs2069744324
|
|
NM_001042492.3(NF1):c.6864A>G (p.Gln2288=)
|
rs1064794756
|
|
NM_001042492.3(NF1):c.6865G>C (p.Val2289Leu)
|
rs943381724
|
|
NM_001042492.3(NF1):c.6869T>C (p.Leu2290Pro)
|
|
|
NM_001042492.3(NF1):c.6869T>G (p.Leu2290Arg)
|
|
|
NM_001042492.3(NF1):c.686A>G (p.Asp229Gly)
|
rs1060500285
|
|
NM_001042492.3(NF1):c.686A>T (p.Asp229Val)
|
|
|
NM_001042492.3(NF1):c.6871A>C (p.Ile2291Leu)
|
rs876659722
|
|
NM_001042492.3(NF1):c.6871A>T (p.Ile2291Leu)
|
rs876659722
|
|
NM_001042492.3(NF1):c.6872T>C (p.Ile2291Thr)
|
|
|
NM_001042492.3(NF1):c.6877_6878delinsAG (p.Ala2293Ser)
|
|
|
NM_001042492.3(NF1):c.6881C>T (p.Thr2294Ile)
|
rs786201902
|
|
NM_001042492.3(NF1):c.6883G>T (p.Val2295Leu)
|
rs2151559300
|
|
NM_001042492.3(NF1):c.6886_6903del (p.Ile2296_Leu2301del)
|
rs2069744859
|
|
NM_001042492.3(NF1):c.6887T>C (p.Ile2296Thr)
|
rs1212022548
|
|
NM_001042492.3(NF1):c.6889G>A (p.Ala2297Thr)
|
rs2151559310
|
|
NM_001042492.3(NF1):c.688G>C (p.Glu230Gln)
|
|
|
NM_001042492.3(NF1):c.6890C>G (p.Ala2297Gly)
|
rs2069744965
|
|
NM_001042492.3(NF1):c.6892C>A (p.Leu2298Ile)
|
rs1555535049
|
|
NM_001042492.3(NF1):c.6893T>C (p.Leu2298Pro)
|
rs1597846070
|
|
NM_001042492.3(NF1):c.6896C>A (p.Thr2299Asn)
|
|
|
NM_001042492.3(NF1):c.6896C>T (p.Thr2299Ile)
|
|
|
NM_001042492.3(NF1):c.6898A>G (p.Lys2300Glu)
|
|
|
NM_001042492.3(NF1):c.689A>G (p.Glu230Gly)
|
|
|
NM_001042492.3(NF1):c.6900A>C (p.Lys2300Asn)
|
rs786203861
|
|
NM_001042492.3(NF1):c.6900A>T (p.Lys2300Asn)
|
rs786203861
|
|
NM_001042492.3(NF1):c.6905A>G (p.Gln2302Arg)
|
|
|
NM_001042492.3(NF1):c.6906G>T (p.Gln2302His)
|
|
|
NM_001042492.3(NF1):c.6908C>T (p.Pro2303Leu)
|
rs2151559381
|
|
NM_001042492.3(NF1):c.690A>C (p.Glu230Asp)
|
rs2066138707
|
|
NM_001042492.3(NF1):c.6917A>G (p.Asn2306Ser)
|
rs1597846107
|
|
NM_001042492.3(NF1):c.6917A>T (p.Asn2306Ile)
|
|
|
NM_001042492.3(NF1):c.6918T>A (p.Asn2306Lys)
|
rs1597846111
|
|
NM_001042492.3(NF1):c.6919_6921del (p.Lys2307del)
|
rs587782819
|
|
NM_001042492.3(NF1):c.691T>G (p.Phe231Val)
|
rs2143777882
|
|
NM_001042492.3(NF1):c.6920A>G (p.Lys2307Arg)
|
rs765418194
|
|
NM_001042492.3(NF1):c.6921+10G>A
|
rs767166725
|
|
NM_001042492.3(NF1):c.6921+2_6921+3dup
|
|
|
NM_001042492.3(NF1):c.6921+3A>C
|
rs1085307885
|
|
NM_001042492.3(NF1):c.6921+3_6921+64dup
|
rs2151559419
|
|
NM_001042492.3(NF1):c.6921+6T>G
|
rs368541645
|
|
NM_001042492.3(NF1):c.6921G>T (p.Lys2307Asn)
|
rs1057523533
|
|
NM_001042492.3(NF1):c.6922-13T>A
|
rs199901687
|
|
NM_001042492.3(NF1):c.6922-3C>T
|
rs876659438
|
|
NM_001042492.3(NF1):c.6922-4C>T
|
rs2069789284
|
|
NM_001042492.3(NF1):c.6922-9_6922-7del
|
rs2151561376
|
|
NM_001042492.3(NF1):c.6922G>A (p.Asp2308Asn)
|
rs775660003
|
|
NM_001042492.3(NF1):c.6922G>T (p.Asp2308Tyr)
|
|
|
NM_001042492.3(NF1):c.6925T>G (p.Ser2309Ala)
|
rs2151561428
|
|
NM_001042492.3(NF1):c.6926C>T (p.Ser2309Leu)
|
rs1555535159
|
|
NM_001042492.3(NF1):c.6928C>G (p.Pro2310Ala)
|
|
|
NM_001042492.3(NF1):c.6928C>T (p.Pro2310Ser)
|
rs2069789708
|
|
NM_001042492.3(NF1):c.6931C>A (p.Leu2311Met)
|
rs1044698498
|
|
NM_001042492.3(NF1):c.6931C>G (p.Leu2311Val)
|
rs1044698498
|
|
NM_001042492.3(NF1):c.6935A>C (p.His2312Pro)
|
rs2151561492
|
|
NM_001042492.3(NF1):c.6938A>G (p.Lys2313Arg)
|
rs2069790077
|
|
NM_001042492.3(NF1):c.693_694delinsCT (p.Thr232Ser)
|
rs1555608748
|
|
NM_001042492.3(NF1):c.6941C>T (p.Ala2314Val)
|
rs2151561523
|
|
NM_001042492.3(NF1):c.6943C>G (p.Leu2315Val)
|
rs1361377546
|
|
NM_001042492.3(NF1):c.6946T>C (p.Phe2316Leu)
|
|
|
NM_001042492.3(NF1):c.6948T>G (p.Phe2316Leu)
|
rs1597847958
|
|
NM_001042492.3(NF1):c.6949T>G (p.Trp2317Gly)
|
rs1060500297
|
|
NM_001042492.3(NF1):c.694A>G (p.Thr232Ala)
|
rs876660027
|
|
NM_001042492.3(NF1):c.694A>T (p.Thr232Ser)
|
rs876660027
|
|
NM_001042492.3(NF1):c.6951G>C (p.Trp2317Cys)
|
rs2069790642
|
|
NM_001042492.3(NF1):c.6952G>T (p.Val2318Leu)
|
rs760528229
|
|
NM_001042492.3(NF1):c.6953T>A (p.Val2318Glu)
|
|
|
NM_001042492.3(NF1):c.6953T>C (p.Val2318Ala)
|
rs2069790813
|
|
NM_001042492.3(NF1):c.6955G>A (p.Ala2319Thr)
|
rs786203881
|
|
NM_001042492.3(NF1):c.6955G>C (p.Ala2319Pro)
|
rs786203881
|
|
NM_001042492.3(NF1):c.6955G>T (p.Ala2319Ser)
|
rs786203881
|
|
NM_001042492.3(NF1):c.6955_6969del (p.Ala2319_Leu2323del)
|
rs2069790969
|
|
NM_001042492.3(NF1):c.6956C>T (p.Ala2319Val)
|
|
|
NM_001042492.3(NF1):c.6959T>C (p.Val2320Ala)
|
rs2069791087
|
|
NM_001042492.3(NF1):c.6959T>G (p.Val2320Gly)
|
|
|
NM_001042492.3(NF1):c.695C>G (p.Thr232Arg)
|
rs769719064
|
|
NM_001042492.3(NF1):c.695C>T (p.Thr232Ile)
|
rs769719064
|
|
NM_001042492.3(NF1):c.6968T>C (p.Leu2323Pro)
|
rs1131691267
|
|
NM_001042492.3(NF1):c.6971A>G (p.Gln2324Arg)
|
|
|
NM_001042492.3(NF1):c.6972G>C (p.Gln2324His)
|
|
|
NM_001042492.3(NF1):c.6973C>A (p.Leu2325Ile)
|
rs1597848038
|
|
NM_001042492.3(NF1):c.6976G>A (p.Asp2326Asn)
|
rs1374858930
|
|
NM_001042492.3(NF1):c.6976G>C (p.Asp2326His)
|
|
|
NM_001042492.3(NF1):c.6977A>G (p.Asp2326Gly)
|
|
|
NM_001042492.3(NF1):c.6977A>T (p.Asp2326Val)
|
rs2069791654
|
|
NM_001042492.3(NF1):c.6978T>C (p.Asp2326=)
|
rs1135402896
|
|
NM_001042492.3(NF1):c.6979G>A (p.Glu2327Lys)
|
rs2151561691
|
|
NM_001042492.3(NF1):c.697A>C (p.Lys233Gln)
|
rs922257267
|
|
NM_001042492.3(NF1):c.697A>G (p.Lys233Glu)
|
rs922257267
|
|
NM_001042492.3(NF1):c.6980A>T (p.Glu2327Val)
|
rs1555535175
|
|
NM_001042492.3(NF1):c.6982G>A (p.Val2328Ile)
|
rs1597848066
|
|
NM_001042492.3(NF1):c.6985A>G (p.Asn2329Asp)
|
rs1597848075
|
|
NM_001042492.3(NF1):c.6986A>G (p.Asn2329Ser)
|
rs1597848079
|
|
NM_001042492.3(NF1):c.698A>G (p.Lys233Arg)
|
rs2066138986
|
|
NM_001042492.3(NF1):c.6990_6991insATGAGG (p.Leu2330_Tyr2331insMetArg)
|
rs1597848085
|
|
NM_001042492.3(NF1):c.6992A>T (p.Tyr2331Phe)
|
rs1060500304
|
|
NM_001042492.3(NF1):c.6994T>G (p.Ser2332Ala)
|
|
|
NM_001042492.3(NF1):c.6995CAG[1] (p.Ala2333del)
|
rs2151561758
|
|
NM_001042492.3(NF1):c.6996A>C (p.Ser2332=)
|
|
|
NM_001042492.3(NF1):c.6997G>T (p.Ala2333Ser)
|
rs1555535178
|
|
NM_001042492.3(NF1):c.699A>C (p.Lys233Asn)
|
rs1597658628
|
|
NM_001042492.3(NF1):c.69A>G (p.Ile23Met)
|
rs1555604870
|
|
NM_001042492.3(NF1):c.7000G>A (p.Gly2334Ser)
|
rs1597848100
|
|
NM_001042492.3(NF1):c.7000G>C (p.Gly2334Arg)
|
rs1597848100
|
|
NM_001042492.3(NF1):c.7001G>T (p.Gly2334Val)
|
|
|
NM_001042492.3(NF1):c.7002T>G (p.Gly2334=)
|
|
|
NM_001042492.3(NF1):c.7003A>C (p.Thr2335Pro)
|
rs370209920
|
|
NM_001042492.3(NF1):c.7004C>A (p.Thr2335Asn)
|
|
|
NM_001042492.3(NF1):c.7004C>T (p.Thr2335Ile)
|
|
|
NM_001042492.3(NF1):c.7006G>C (p.Ala2336Pro)
|
rs587781428
|
|
NM_001042492.3(NF1):c.7006G>T (p.Ala2336Ser)
|
rs587781428
|
|
NM_001042492.3(NF1):c.7007C>A (p.Ala2336Glu)
|
rs886052802
|
|
NM_001042492.3(NF1):c.7010T>G (p.Leu2337Arg)
|
rs1555535179
|
|
NM_001042492.3(NF1):c.7012C>G (p.Leu2338Val)
|
rs1597848149
|
|
NM_001042492.3(NF1):c.7012C>T (p.Leu2338Phe)
|
rs1597848149
|
|
NM_001042492.3(NF1):c.7025T>C (p.Leu2342Pro)
|
|
|
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.7028A>G (p.His2343Arg)
|
|
|
NM_001042492.3(NF1):c.702_703inv (p.Tyr235His)
|
|
|
NM_001042492.3(NF1):c.7030A>G (p.Thr2344Ala)
|
rs1555535189
|
|
NM_001042492.3(NF1):c.7031C>G (p.Thr2344Ser)
|
|
|
NM_001042492.3(NF1):c.7031C>T (p.Thr2344Ile)
|
rs2069793613
|
|
NM_001042492.3(NF1):c.7033T>G (p.Leu2345Val)
|
|
|
NM_001042492.3(NF1):c.7034T>C (p.Leu2345Ser)
|
rs1555535195
|
|
NM_001042492.3(NF1):c.7036G>A (p.Asp2346Asn)
|
rs2069793959
|
|
NM_001042492.3(NF1):c.7036G>C (p.Asp2346His)
|
rs2069793959
|
|
NM_001042492.3(NF1):c.7036G>T (p.Asp2346Tyr)
|
|
|
NM_001042492.3(NF1):c.7037A>G (p.Asp2346Gly)
|
rs2151561935
|
|
NM_001042492.3(NF1):c.7037A>T (p.Asp2346Val)
|
rs2151561935
|
|
NM_001042492.3(NF1):c.7038T>G (p.Asp2346Glu)
|
|
|
NM_001042492.3(NF1):c.7040G>C (p.Ser2347Thr)
|
rs1567619102
|
|
NM_001042492.3(NF1):c.7042C>T (p.Leu2348Phe)
|
|
|
NM_001042492.3(NF1):c.7043T>G (p.Leu2348Arg)
|
rs1597848222
|
|
NM_001042492.3(NF1):c.7045C>G (p.Arg2349Gly)
|
rs56013763
|
|
NM_001042492.3(NF1):c.7046G>T (p.Arg2349Leu)
|
rs864622065
|
|
NM_001042492.3(NF1):c.7048A>C (p.Ile2350Leu)
|
rs1381254564
|
|
NM_001042492.3(NF1):c.7048A>G (p.Ile2350Val)
|
|
|
NM_001042492.3(NF1):c.7048A>T (p.Ile2350Leu)
|
|
|
NM_001042492.3(NF1):c.7049T>A (p.Ile2350Lys)
|
rs2069794814
|
|
NM_001042492.3(NF1):c.7049T>C (p.Ile2350Thr)
|
|
|
NM_001042492.3(NF1):c.704A>G (p.Tyr235Cys)
|
|
|
NM_001042492.3(NF1):c.7050A>G (p.Ile2350Met)
|
|
|
NM_001042492.3(NF1):c.7052T>A (p.Phe2351Tyr)
|
|
|
NM_001042492.3(NF1):c.7052T>C (p.Phe2351Ser)
|
|
|
NM_001042492.3(NF1):c.7054A>G (p.Asn2352Asp)
|
rs1441937734
|
|
NM_001042492.3(NF1):c.7057_7059del (p.Asp2353del)
|
rs786203558
|
|
NM_001042492.3(NF1):c.7060A>G (p.Lys2354Glu)
|
rs2069795315
|
|
NM_001042492.3(NF1):c.7062+17T>G
|
rs2151562120
|
|
NM_001042492.3(NF1):c.7062+3A>G
|
|
|
NM_001042492.3(NF1):c.7062+3A>T
|
|
|
NM_001042492.3(NF1):c.7062+3_7062+31del
|
|
|
NM_001042492.3(NF1):c.7062+6C>G
|
rs2069795623
|
|
NM_001042492.3(NF1):c.7062+6C>T
|
|
|
NM_001042492.3(NF1):c.7062G>A (p.Lys2354=)
|
rs184142864
|
|
NM_001042492.3(NF1):c.7063-3T>C
|
rs1241158120
|
|
NM_001042492.3(NF1):c.7063-3T>G
|
rs1241158120
|
|
NM_001042492.3(NF1):c.7063-4A>G
|
rs749805168
|
|
NM_001042492.3(NF1):c.7063-4_7063-2del
|
rs1597851237
|
|
NM_001042492.3(NF1):c.7063-7T>A
|
|
|
NM_001042492.3(NF1):c.7063-9C>G
|
rs1555535398
|
|
NM_001042492.3(NF1):c.7063-9_7063-7del
|
|
|
NM_001042492.3(NF1):c.7063A>C (p.Ser2355Arg)
|
|
|
NM_001042492.3(NF1):c.7064G>A (p.Ser2355Asn)
|
rs1555535399
|
|
NM_001042492.3(NF1):c.7064G>T (p.Ser2355Ile)
|
|
|
NM_001042492.3(NF1):c.7065T>A (p.Ser2355Arg)
|
|
|
NM_001042492.3(NF1):c.7065T>G (p.Ser2355Arg)
|
rs1567620376
|
|
NM_001042492.3(NF1):c.7066C>T (p.Pro2356Ser)
|
rs2151564948
|
|
NM_001042492.3(NF1):c.7067C>A (p.Pro2356Gln)
|
rs1555535402
|
|
NM_001042492.3(NF1):c.7067C>G (p.Pro2356Arg)
|
|
|
NM_001042492.3(NF1):c.7067C>T (p.Pro2356Leu)
|
rs1555535402
|
|
NM_001042492.3(NF1):c.7069G>A (p.Glu2357Lys)
|
rs199474784
|
|
NM_001042492.3(NF1):c.706C>G (p.Gln236Glu)
|
rs1597658664
|
|
NM_001042492.3(NF1):c.7070A>G (p.Glu2357Gly)
|
rs786203596
|
|
NM_001042492.3(NF1):c.7070A>T (p.Glu2357Val)
|
rs786203596
|
|
NM_001042492.3(NF1):c.7072G>A (p.Glu2358Lys)
|
rs2069865899
|
|
NM_001042492.3(NF1):c.7072G>C (p.Glu2358Gln)
|
rs2069865899
|
|
NM_001042492.3(NF1):c.7073A>G (p.Glu2358Gly)
|
|
|
NM_001042492.3(NF1):c.7074A>T (p.Glu2358Asp)
|
|
|
NM_001042492.3(NF1):c.7078T>C (p.Phe2360Leu)
|
rs2069866148
|
|
NM_001042492.3(NF1):c.7078T>G (p.Phe2360Val)
|
rs2069866148
|
|
NM_001042492.3(NF1):c.7079T>G (p.Phe2360Cys)
|
rs1567620390
|
|
NM_001042492.3(NF1):c.707A>G (p.Gln236Arg)
|
rs1321998864
|
|
NM_001042492.3(NF1):c.7081A>G (p.Met2361Val)
|
rs1022562410
|
|
NM_001042492.3(NF1):c.7082T>C (p.Met2361Thr)
|
|
|
NM_001042492.3(NF1):c.7083G>A (p.Met2361Ile)
|
rs1293010884
|
|
NM_001042492.3(NF1):c.7089C>G (p.Ile2363Met)
|
rs2069866501
|
|
NM_001042492.3(NF1):c.7090C>T (p.Arg2364Trp)
|
rs1567620403
|
|
NM_001042492.3(NF1):c.7097C>G (p.Pro2366Arg)
|
rs1597851311
|
|
NM_001042492.3(NF1):c.7097C>T (p.Pro2366Leu)
|
rs1597851311
|
|
NM_001042492.3(NF1):c.7099C>G (p.Leu2367Val)
|
rs1259241665
|
|
NM_001042492.3(NF1):c.709A>G (p.Ile237Val)
|
|
|
NM_001042492.3(NF1):c.7102G>A (p.Glu2368Lys)
|
rs2151565046
|
|
NM_001042492.3(NF1):c.7102G>C (p.Glu2368Gln)
|
|
|
NM_001042492.3(NF1):c.7108C>T (p.His2370Tyr)
|
rs587781479
|
|
NM_001042492.3(NF1):c.7110C>G (p.His2370Gln)
|
|
|
NM_001042492.3(NF1):c.7113C>T (p.Cys2371=)
|
rs2069867490
|
|
NM_001042492.3(NF1):c.711C>G (p.Ile237Met)
|
rs2066139444
|
|
NM_001042492.3(NF1):c.7120A>G (p.Met2374Val)
|
rs2069867800
|
|
NM_001042492.3(NF1):c.7120A>T (p.Met2374Leu)
|
|
|
NM_001042492.3(NF1):c.7121T>G (p.Met2374Arg)
|
|
|
NM_001042492.3(NF1):c.7122G>A (p.Met2374Ile)
|
rs2151565097
|
|
NM_001042492.3(NF1):c.7125T>A (p.Asp2375Glu)
|
rs1597851343
|
|
NM_001042492.3(NF1):c.712C>G (p.Pro238Ala)
|
rs1060500365
|
|
NM_001042492.3(NF1):c.7138C>T (p.Leu2380Phe)
|
rs2069868324
|
|
NM_001042492.3(NF1):c.7139T>C (p.Leu2380Pro)
|
rs1597851364
|
|
NM_001042492.3(NF1):c.713C>T (p.Pro238Leu)
|
rs1567826152
|
|
NM_001042492.3(NF1):c.7144T>A (p.Phe2382Ile)
|
rs2069868688
|
|
NM_001042492.3(NF1):c.7146C>G (p.Phe2382Leu)
|
rs2151565177
|
|
NM_001042492.3(NF1):c.7148A>C (p.Asn2383Thr)
|
|
|
NM_001042492.3(NF1):c.7150T>C (p.Ser2384Pro)
|
rs1555535429
|
|
NM_001042492.3(NF1):c.7153A>C (p.Asn2385His)
|
|
|
NM_001042492.3(NF1):c.7153A>G (p.Asn2385Asp)
|
rs1597851405
|
|
NM_001042492.3(NF1):c.7156T>G (p.Phe2386Val)
|
rs1597851418
|
|
NM_001042492.3(NF1):c.7157T>C (p.Phe2386Ser)
|
rs1555535439
|
|
NM_001042492.3(NF1):c.7159A>T (p.Asn2387Tyr)
|
rs763556723
|
|
NM_001042492.3(NF1):c.7160A>C (p.Asn2387Thr)
|
rs2069869339
|
|
NM_001042492.3(NF1):c.7160A>G (p.Asn2387Ser)
|
|
|
NM_001042492.3(NF1):c.7161C>G (p.Asn2387Lys)
|
rs1555535444
|
|
NM_001042492.3(NF1):c.7162T>A (p.Phe2388Ile)
|
rs1425642121
|
|
NM_001042492.3(NF1):c.7162T>C (p.Phe2388Leu)
|
rs1425642121
|
|
NM_001042492.3(NF1):c.7162T>G (p.Phe2388Val)
|
|
|
NM_001042492.3(NF1):c.7170G>C (p.Leu2390Phe)
|
rs751081026
|
|
NM_001042492.3(NF1):c.7170G>T (p.Leu2390Phe)
|
rs751081026
|
|
NM_001042492.3(NF1):c.7172T>C (p.Val2391Ala)
|
rs2069869918
|
|
NM_001042492.3(NF1):c.7174G>A (p.Gly2392Arg)
|
|
|
NM_001042492.3(NF1):c.7174G>C (p.Gly2392Arg)
|
rs1357330262
|
|
NM_001042492.3(NF1):c.7175G>A (p.Gly2392Glu)
|
rs2151565294
|
|
NM_001042492.3(NF1):c.7177C>T (p.His2393Tyr)
|
rs1597851468
|
|
NM_001042492.3(NF1):c.7178A>C (p.His2393Pro)
|
|
|
NM_001042492.3(NF1):c.7178A>G (p.His2393Arg)
|
rs2069870134
|
|
NM_001042492.3(NF1):c.7179C>A (p.His2393Gln)
|
rs2069870191
|
|
NM_001042492.3(NF1):c.7179C>G (p.His2393Gln)
|
rs2069870191
|
|
NM_001042492.3(NF1):c.7180C>A (p.Leu2394Ile)
|
rs1555535452
|
|
NM_001042492.3(NF1):c.7180C>G (p.Leu2394Val)
|
rs1555535452
|
|
NM_001042492.3(NF1):c.7181T>A (p.Leu2394His)
|
rs1135402899
|
|
NM_001042492.3(NF1):c.7183T>G (p.Leu2395Val)
|
rs1567620503
|
|
NM_001042492.3(NF1):c.7188A>G (p.Lys2396=)
|
rs202067626
|
|
NM_001042492.3(NF1):c.7189+4A>C
|
rs756834212
|
|
NM_001042492.3(NF1):c.7189+6A>C
|
|
|
NM_001042492.3(NF1):c.7189G>C (p.Gly2397Arg)
|
rs1135402900
|
|
NM_001042492.3(NF1):c.7190-10_7190-3delinsCTTTTGG
|
rs2151572443
|
|
NM_001042492.3(NF1):c.7190-34C>A
|
rs1757582806
|
|
NM_001042492.3(NF1):c.7190-3T>C
|
rs2070073286
|
|
NM_001042492.3(NF1):c.7190-5T>C
|
rs748245325
|
|
NM_001042492.3(NF1):c.7190-5T>G
|
rs748245325
|
|
NM_001042492.3(NF1):c.7190-5del
|
rs769290414
|
|
NM_001042492.3(NF1):c.7190-6T>C
|
rs1597858313
|
|
NM_001042492.3(NF1):c.7190G>A (p.Gly2397Glu)
|
rs2070073482
|
|
NM_001042492.3(NF1):c.7193A>G (p.Tyr2398Cys)
|
rs1567623401
|
|
NM_001042492.3(NF1):c.7195A>G (p.Arg2399Gly)
|
|
|
NM_001042492.3(NF1):c.7196G>A (p.Arg2399Lys)
|
|
|
NM_001042492.3(NF1):c.7197G>T (p.Arg2399Ser)
|
|
|
NM_001042492.3(NF1):c.7198C>T (p.His2400Tyr)
|
rs1567623421
|
|
NM_001042492.3(NF1):c.7199A>G (p.His2400Arg)
|
rs1597858362
|
|
NM_001042492.3(NF1):c.71A>G (p.Lys24Arg)
|
|
|
NM_001042492.3(NF1):c.7201C>T (p.Pro2401Ser)
|
rs1597858372
|
|
NM_001042492.3(NF1):c.7202C>T (p.Pro2401Leu)
|
|
|
NM_001042492.3(NF1):c.7204T>G (p.Ser2402Ala)
|
rs1287571228
|
|
NM_001042492.3(NF1):c.7210G>A (p.Ala2404Thr)
|
rs2151572526
|
|
NM_001042492.3(NF1):c.7214T>C (p.Ile2405Thr)
|
|
|
NM_001042492.3(NF1):c.7214T>G (p.Ile2405Ser)
|
|
|
NM_001042492.3(NF1):c.7217T>C (p.Val2406Ala)
|
rs950181978
|
|
NM_001042492.3(NF1):c.7219G>C (p.Ala2407Pro)
|
rs2151572572
|
|
NM_001042492.3(NF1):c.721G>A (p.Asp241Asn)
|
rs2066139718
|
|
NM_001042492.3(NF1):c.721G>T (p.Asp241Tyr)
|
|
|
NM_001042492.3(NF1):c.7220C>G (p.Ala2407Gly)
|
rs2151572575
|
|
NM_001042492.3(NF1):c.7222A>G (p.Arg2408Gly)
|
|
|
NM_001042492.3(NF1):c.7223G>A (p.Arg2408Lys)
|
rs1597858407
|
|
NM_001042492.3(NF1):c.7225A>G (p.Thr2409Ala)
|
rs1555536021
|
|
NM_001042492.3(NF1):c.7226C>T (p.Thr2409Ile)
|
rs1597858415
|
|
NM_001042492.3(NF1):c.7228G>A (p.Val2410Ile)
|
rs1060500372
|
|
NM_001042492.3(NF1):c.7228G>C (p.Val2410Leu)
|
rs1060500372
|
|
NM_001042492.3(NF1):c.722A>C (p.Asp241Ala)
|
|
|
NM_001042492.3(NF1):c.7233A>T (p.Arg2411Ser)
|
|
|
NM_001042492.3(NF1):c.7235T>G (p.Ile2412Ser)
|
|
|
NM_001042492.3(NF1):c.7237T>G (p.Leu2413Val)
|
|
|
NM_001042492.3(NF1):c.723T>A (p.Asp241Glu)
|
|
|
NM_001042492.3(NF1):c.7240C>G (p.His2414Asp)
|
|
|
NM_001042492.3(NF1):c.7240C>T (p.His2414Tyr)
|
rs2070075234
|
|
NM_001042492.3(NF1):c.7241A>C (p.His2414Pro)
|
rs876659855
|
|
NM_001042492.3(NF1):c.7243A>G (p.Thr2415Ala)
|
|
|
NM_001042492.3(NF1):c.7244C>A (p.Thr2415Lys)
|
|
|
NM_001042492.3(NF1):c.7246C>G (p.Leu2416Val)
|
rs786201310
|
|
NM_001042492.3(NF1):c.7246C>T (p.Leu2416=)
|
rs786201310
|
|
NM_001042492.3(NF1):c.7246CTA[1] (p.Leu2417del)
|
rs1555536023
|
|
NM_001042492.3(NF1):c.7249C>G (p.Leu2417Val)
|
rs2070075539
|
|
NM_001042492.3(NF1):c.724A>G (p.Met242Val)
|
rs1555608762
|
|
NM_001042492.3(NF1):c.7253C>G (p.Thr2418Ser)
|
|
|
NM_001042492.3(NF1):c.7256T>C (p.Leu2419Pro)
|
|
|
NM_001042492.3(NF1):c.7256T>G (p.Leu2419Arg)
|
rs2070075780
|
|
NM_001042492.3(NF1):c.7258G>A (p.Val2420Ile)
|
rs1597858484
|
|
NM_001042492.3(NF1):c.7258G>C (p.Val2420Leu)
|
rs1597858484
|
|
NM_001042492.3(NF1):c.725T>C (p.Met242Thr)
|
rs1555608765
|
|
NM_001042492.3(NF1):c.725T>G (p.Met242Arg)
|
rs1555608765
|
|
NM_001042492.3(NF1):c.7262A>C (p.Asn2421Thr)
|
rs774339063
|
|
NM_001042492.3(NF1):c.7262A>G (p.Asn2421Ser)
|
rs774339063
|
|
NM_001042492.3(NF1):c.7265A>G (p.Lys2422Arg)
|
rs1597858501
|
|
NM_001042492.3(NF1):c.7266A>T (p.Lys2422Asn)
|
|
|
NM_001042492.3(NF1):c.7267C>T (p.His2423Tyr)
|
rs761299521
|
|
NM_001042492.3(NF1):c.7269C>A (p.His2423Gln)
|
|
|
NM_001042492.3(NF1):c.7269C>G (p.His2423Gln)
|
|
|
NM_001042492.3(NF1):c.726G>A (p.Met242Ile)
|
|
|
NM_001042492.3(NF1):c.7271G>T (p.Arg2424Ile)
|
rs1555536029
|
|
NM_001042492.3(NF1):c.7272A>C (p.Arg2424Ser)
|
rs139997141
|
|
NM_001042492.3(NF1):c.7274A>C (p.Asn2425Thr)
|
|
|
NM_001042492.3(NF1):c.7274A>G (p.Asn2425Ser)
|
rs2070076752
|
|
NM_001042492.3(NF1):c.7276T>G (p.Cys2426Gly)
|
rs767059035
|
|
NM_001042492.3(NF1):c.7279G>C (p.Asp2427His)
|
rs1230353186
|
|
NM_001042492.3(NF1):c.727G>A (p.Ala243Thr)
|
|
|
NM_001042492.3(NF1):c.7281C>A (p.Asp2427Glu)
|
rs1567623519
|
|
NM_001042492.3(NF1):c.7282A>C (p.Lys2428Gln)
|
|
|
NM_001042492.3(NF1):c.7283A>T (p.Lys2428Ile)
|
rs2070077385
|
|
NM_001042492.3(NF1):c.7286T>C (p.Phe2429Ser)
|
|
|
NM_001042492.3(NF1):c.7289A>C (p.Glu2430Ala)
|
rs876659449
|
|
NM_001042492.3(NF1):c.7291G>A (p.Val2431Met)
|
|
|
NM_001042492.3(NF1):c.7292T>C (p.Val2431Ala)
|
|
|
NM_001042492.3(NF1):c.7292T>G (p.Val2431Gly)
|
rs2070077893
|
|
NM_001042492.3(NF1):c.7294A>C (p.Asn2432His)
|
|
|
NM_001042492.3(NF1):c.7295A>G (p.Asn2432Ser)
|
rs2070077965
|
|
NM_001042492.3(NF1):c.7297A>G (p.Thr2433Ala)
|
rs1597858568
|
|
NM_001042492.3(NF1):c.730+3A>T
|
rs762029774
|
|
NM_001042492.3(NF1):c.730+4A>G
|
rs767510113
|
|
NM_001042492.3(NF1):c.730+5G>A
|
rs1567826200
|
|
NM_001042492.3(NF1):c.730+6G>C
|
rs1444298546
|
|
NM_001042492.3(NF1):c.730+6G>T
|
|
|
NM_001042492.3(NF1):c.7301A>C (p.Gln2434Pro)
|
|
|
NM_001042492.3(NF1):c.7302G>C (p.Gln2434His)
|
|
|
NM_001042492.3(NF1):c.7303A>G (p.Ser2435Gly)
|
rs1555536038
|
|
NM_001042492.3(NF1):c.7303A>T (p.Ser2435Cys)
|
rs1555536038
|
|
NM_001042492.3(NF1):c.7304G>A (p.Ser2435Asn)
|
rs2151572910
|
|
NM_001042492.3(NF1):c.7306G>C (p.Val2436Leu)
|
rs876659856
|
|
NM_001042492.3(NF1):c.7309G>A (p.Ala2437Thr)
|
|
|
NM_001042492.3(NF1):c.730G>A (p.Glu244Lys)
|
rs1567826188
|
|
NM_001042492.3(NF1):c.731-3C>G
|
|
|
NM_001042492.3(NF1):c.731-8del
|
rs1438618408
|
|
NM_001042492.3(NF1):c.7310C>A (p.Ala2437Asp)
|
rs2070078591
|
|
NM_001042492.3(NF1):c.7310C>T (p.Ala2437Val)
|
|
|
NM_001042492.3(NF1):c.7313A>G (p.Tyr2438Cys)
|
rs876660597
|
|
NM_001042492.3(NF1):c.7315T>A (p.Leu2439Ile)
|
rs1597858629
|
|
NM_001042492.3(NF1):c.7315T>G (p.Leu2439Val)
|
|
|
NM_001042492.3(NF1):c.7316T>C (p.Leu2439Ser)
|
rs2070078996
|
|
NM_001042492.3(NF1):c.7317A>C (p.Leu2439Phe)
|
rs1597858633
|
|
NM_001042492.3(NF1):c.7317AGC[1] (p.Ala2441del)
|
rs1085307506
|
|
NM_001042492.3(NF1):c.731A>G (p.Glu244Gly)
|
|
|
NM_001042492.3(NF1):c.7321+3A>G
|
rs1597858650
|
|
NM_001042492.3(NF1):c.7321+3A>T
|
rs1597858650
|
|
NM_001042492.3(NF1):c.7321+4A>G
|
rs1597858660
|
|
NM_001042492.3(NF1):c.7321+6A>G
|
rs1597858669
|
|
NM_001042492.3(NF1):c.7322-14C>A
|
|
|
NM_001042492.3(NF1):c.7324T>A (p.Leu2442Ile)
|
|
|
NM_001042492.3(NF1):c.7327C>G (p.Leu2443Val)
|
|
|
NM_001042492.3(NF1):c.7330A>G (p.Thr2444Ala)
|
rs2070103253
|
|
NM_001042492.3(NF1):c.7334T>C (p.Val2445Ala)
|
rs1567623931
|
|
NM_001042492.3(NF1):c.7334T>G (p.Val2445Gly)
|
rs1567623931
|
|
NM_001042492.3(NF1):c.7336T>G (p.Ser2446Ala)
|
rs2151574285
|
|
NM_001042492.3(NF1):c.7339G>C (p.Glu2447Gln)
|
rs878853914
|
|
NM_001042492.3(NF1):c.7340AAG[1] (p.Glu2448del)
|
rs587781961
|
|
NM_001042492.3(NF1):c.7343A>C (p.Glu2448Ala)
|
rs1597859599
|
|
NM_001042492.3(NF1):c.7343A>G (p.Glu2448Gly)
|
|
|
NM_001042492.3(NF1):c.7346T>C (p.Val2449Ala)
|
|
|
NM_001042492.3(NF1):c.734G>A (p.Cys245Tyr)
|
rs587781869
|
|
NM_001042492.3(NF1):c.734G>C (p.Cys245Ser)
|
|
|
NM_001042492.3(NF1):c.734G>T (p.Cys245Phe)
|
rs587781869
|
|
NM_001042492.3(NF1):c.7355G>A (p.Arg2452His)
|
rs1555536122
|
|
NM_001042492.3(NF1):c.7355G>C (p.Arg2452Pro)
|
|
|
NM_001042492.3(NF1):c.7355G>T (p.Arg2452Leu)
|
rs1555536122
|
|
NM_001042492.3(NF1):c.7357T>C (p.Cys2453Arg)
|
|
|
NM_001042492.3(NF1):c.7357_7359del (p.Cys2453del)
|
|
|
NM_001042492.3(NF1):c.7358G>A (p.Cys2453Tyr)
|
|
|
NM_001042492.3(NF1):c.7358G>T (p.Cys2453Phe)
|
|
|
NM_001042492.3(NF1):c.7361G>C (p.Ser2454Thr)
|
rs1555536127
|
|
NM_001042492.3(NF1):c.7364T>C (p.Leu2455Pro)
|
rs1555536128
|
|
NM_001042492.3(NF1):c.7366A>C (p.Lys2456Gln)
|
rs2151574384
|
|
NM_001042492.3(NF1):c.7368A>C (p.Lys2456Asn)
|
rs201287021
|
|
NM_001042492.3(NF1):c.7368A>T (p.Lys2456Asn)
|
rs201287021
|
|
NM_001042492.3(NF1):c.7369C>T (p.His2457Tyr)
|
rs768404575
|
|
NM_001042492.3(NF1):c.736G>T (p.Ala246Ser)
|
rs1597659751
|
|
NM_001042492.3(NF1):c.7373G>A (p.Arg2458Lys)
|
rs1555536130
|
|
NM_001042492.3(NF1):c.7373G>T (p.Arg2458Ile)
|
|
|
NM_001042492.3(NF1):c.7374A>C (p.Arg2458Ser)
|
rs2070105352
|
|
NM_001042492.3(NF1):c.7379C>T (p.Ser2460Leu)
|
rs2151574431
|
|
NM_001042492.3(NF1):c.7381C>G (p.Leu2461Val)
|
rs1199046022
|
|
NM_001042492.3(NF1):c.7381C>T (p.Leu2461Phe)
|
rs1199046022
|
|
NM_001042492.3(NF1):c.7381CTT[2] (p.Leu2463del)
|
rs786203184
|
|
NM_001042492.3(NF1):c.7382T>A (p.Leu2461His)
|
rs2070105653
|
|
NM_001042492.3(NF1):c.7382T>C (p.Leu2461Pro)
|
|
|
NM_001042492.3(NF1):c.7384C>A (p.Leu2462Ile)
|
|
|
NM_001042492.3(NF1):c.7385T>C (p.Leu2462Pro)
|
rs1060500302
|
|
NM_001042492.3(NF1):c.7387C>G (p.Leu2463Val)
|
rs2070105859
|
|
NM_001042492.3(NF1):c.7387C>T (p.Leu2463Phe)
|
|
|
NM_001042492.3(NF1):c.7390A>C (p.Thr2464Pro)
|
|
|
NM_001042492.3(NF1):c.7391C>A (p.Thr2464Asn)
|
|
|
NM_001042492.3(NF1):c.7391C>T (p.Thr2464Ile)
|
rs1597859696
|
|
NM_001042492.3(NF1):c.7396A>C (p.Ile2466Leu)
|
rs748027595
|
|
NM_001042492.3(NF1):c.7399T>G (p.Ser2467Ala)
|
|
|
NM_001042492.3(NF1):c.7400C>T (p.Ser2467Leu)
|
rs1555536135
|
|
NM_001042492.3(NF1):c.7406A>G (p.Glu2469Gly)
|
rs1281096294
|
|
NM_001042492.3(NF1):c.7406A>T (p.Glu2469Val)
|
rs1281096294
|
|
NM_001042492.3(NF1):c.740A>G (p.Glu247Gly)
|
rs864622385
|
|
NM_001042492.3(NF1):c.740A>T (p.Glu247Val)
|
|
|
NM_001042492.3(NF1):c.7411G>A (p.Val2471Ile)
|
rs876660126
|
|
NM_001042492.3(NF1):c.7412T>C (p.Val2471Ala)
|
|
|
NM_001042492.3(NF1):c.7414C>T (p.Pro2472Ser)
|
rs2151574519
|
|
NM_001042492.3(NF1):c.7415C>G (p.Pro2472Arg)
|
rs786202184
|
|
NM_001042492.3(NF1):c.7415C>T (p.Pro2472Leu)
|
rs786202184
|
|
NM_001042492.3(NF1):c.7417A>G (p.Met2473Val)
|
rs1555536144
|
|
NM_001042492.3(NF1):c.7419G>A (p.Met2473Ile)
|
|
|
NM_001042492.3(NF1):c.7420G>T (p.Asp2474Tyr)
|
rs1405212000
|
|
NM_001042492.3(NF1):c.7421A>G (p.Asp2474Gly)
|
rs2070107259
|
|
NM_001042492.3(NF1):c.7421A>T (p.Asp2474Val)
|
|
|
NM_001042492.3(NF1):c.7423A>G (p.Thr2475Ala)
|
rs1597859789
|
|
NM_001042492.3(NF1):c.7424C>A (p.Thr2475Lys)
|
|
|
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.7427A>T (p.Tyr2476Phe)
|
|
|
NM_001042492.3(NF1):c.7429C>G (p.Pro2477Ala)
|
rs876658722
|
|
NM_001042492.3(NF1):c.7429C>T (p.Pro2477Ser)
|
rs876658722
|
|
NM_001042492.3(NF1):c.742A>G (p.Lys248Glu)
|
rs876658252
|
|
NM_001042492.3(NF1):c.7435C>T (p.His2479Tyr)
|
rs587782119
|
|
NM_001042492.3(NF1):c.7438C>T (p.His2480Tyr)
|
rs1555536166
|
|
NM_001042492.3(NF1):c.7442G>T (p.Gly2481Val)
|
rs786202540
|
|
NM_001042492.3(NF1):c.7444G>A (p.Asp2482Asn)
|
|
|
NM_001042492.3(NF1):c.7444G>T (p.Asp2482Tyr)
|
rs2151574641
|
|
NM_001042492.3(NF1):c.7446C>A (p.Asp2482Glu)
|
rs876660614
|
|
NM_001042492.3(NF1):c.7447C>T (p.Pro2483Ser)
|
rs1291550449
|
|
NM_001042492.3(NF1):c.7448C>G (p.Pro2483Arg)
|
rs2070108464
|
|
NM_001042492.3(NF1):c.7448C>T (p.Pro2483Leu)
|
rs2070108464
|
|
NM_001042492.3(NF1):c.744G>T (p.Lys248Asn)
|
|
|
NM_001042492.3(NF1):c.7450_7451delinsAT (p.Ser2484Ile)
|
|
|
NM_001042492.3(NF1):c.7454A>C (p.Tyr2485Ser)
|
|
|
NM_001042492.3(NF1):c.7456A>C (p.Arg2486=)
|
rs752162999
|
|
NM_001042492.3(NF1):c.7456A>T (p.Arg2486Trp)
|
|
|
NM_001042492.3(NF1):c.7457+1G>C
|
rs2151574698
|
|
NM_001042492.3(NF1):c.7457+3A>G
|
rs1555536170
|
|
NM_001042492.3(NF1):c.7457+5G>A
|
rs1555536171
|
|
NM_001042492.3(NF1):c.7457+5G>C
|
|
|
NM_001042492.3(NF1):c.7457G>T (p.Arg2486Met)
|
|
|
NM_001042492.3(NF1):c.7458-16T>A
|
|
|
NM_001042492.3(NF1):c.7458-339G>A
|
rs2151576361
|
|
NM_001042492.3(NF1):c.7458-3C>A
|
rs1158267419
|
|
NM_001042492.3(NF1):c.7458-3C>G
|
rs1158267419
|
|
NM_001042492.3(NF1):c.7458-5T>G
|
|
|
NM_001042492.3(NF1):c.7458G>A (p.Arg2486=)
|
rs2070166426
|
|
NM_001042492.3(NF1):c.7458G>T (p.Arg2486Ser)
|
rs2070166426
|
|
NM_001042492.3(NF1):c.7459A>G (p.Thr2487Ala)
|
rs2070166547
|
|
NM_001042492.3(NF1):c.745C>G (p.Leu249Val)
|
rs2143785034
|
|
NM_001042492.3(NF1):c.7460C>T (p.Thr2487Ile)
|
rs2070166606
|
|
NM_001042492.3(NF1):c.7462C>G (p.Leu2488Val)
|
rs876660345
|
|
NM_001042492.3(NF1):c.7463T>C (p.Leu2488Pro)
|
rs2070166801
|
|
NM_001042492.3(NF1):c.7465A>G (p.Lys2489Glu)
|
rs1555536338
|
|
NM_001042492.3(NF1):c.7466A>C (p.Lys2489Thr)
|
rs864622249
|
|
NM_001042492.3(NF1):c.7466A>G (p.Lys2489Arg)
|
rs864622249
|
|
NM_001042492.3(NF1):c.746T>C (p.Leu249Pro)
|
rs1567826623
|
|
NM_001042492.3(NF1):c.746T>G (p.Leu249Arg)
|
rs1567826623
|
|
NM_001042492.3(NF1):c.7472C>T (p.Thr2491Ile)
|
rs2151576935
|
|
NM_001042492.3(NF1):c.7475A>T (p.Gln2492Leu)
|
|
|
NM_001042492.3(NF1):c.7477C>T (p.Pro2493Ser)
|
rs2070167112
|
|
NM_001042492.3(NF1):c.7478C>T (p.Pro2493Leu)
|
rs2151576963
|
|
NM_001042492.3(NF1):c.7487C>T (p.Ser2496Phe)
|
rs371773406
|
|
NM_001042492.3(NF1):c.7490C>T (p.Pro2497Leu)
|
rs1555536347
|
|
NM_001042492.3(NF1):c.7494A>C (p.Lys2498Asn)
|
rs2070167780
|
|
NM_001042492.3(NF1):c.7495_7496delinsCT (p.Gly2499Leu)
|
rs2070167904
|
|
NM_001042492.3(NF1):c.7496G>A (p.Gly2499Asp)
|
rs375176282
|
|
NM_001042492.3(NF1):c.7499C>A (p.Ser2500Tyr)
|
rs2070168165
|
|
NM_001042492.3(NF1):c.749T>C (p.Phe250Ser)
|
|
|
NM_001042492.3(NF1):c.74C>G (p.Thr25Arg)
|
rs1555604874
|
|
NM_001042492.3(NF1):c.74C>T (p.Thr25Ile)
|
rs1555604874
|
|
NM_001042492.3(NF1):c.7504G>C (p.Gly2502Arg)
|
rs1555536357
|
|
NM_001042492.3(NF1):c.7505G>T (p.Gly2502Val)
|
|
|
NM_001042492.3(NF1):c.7509C>T (p.Tyr2503=)
|
rs1555536359
|
|
NM_001042492.3(NF1):c.750T>A (p.Phe250Leu)
|
rs2143785091
|
|
NM_001042492.3(NF1):c.7510C>A (p.Leu2504Ile)
|
rs876658333
|
|
NM_001042492.3(NF1):c.7510C>T (p.Leu2504Phe)
|
rs876658333
|
|
NM_001042492.3(NF1):c.7511T>C (p.Leu2504Pro)
|
rs2151577076
|
|
NM_001042492.3(NF1):c.7513G>C (p.Ala2505Pro)
|
rs786202955
|
|
NM_001042492.3(NF1):c.7514C>G (p.Ala2505Gly)
|
rs1567625126
|
|
NM_001042492.3(NF1):c.7514C>T (p.Ala2505Val)
|
rs1567625126
|
|
NM_001042492.3(NF1):c.7517C>A (p.Ala2506Asp)
|
|
|
NM_001042492.3(NF1):c.7519A>G (p.Thr2507Ala)
|
rs1597862129
|
|
NM_001042492.3(NF1):c.7523A>T (p.Tyr2508Phe)
|
rs762169098
|
|
NM_001042492.3(NF1):c.7525C>A (p.Pro2509Thr)
|
rs886052803
|
|
NM_001042492.3(NF1):c.7526C>G (p.Pro2509Arg)
|
rs786202146
|
|
NM_001042492.3(NF1):c.7526C>T (p.Pro2509Leu)
|
rs786202146
|
|
NM_001042492.3(NF1):c.752A>G (p.Asp251Gly)
|
rs2143785113
|
|
NM_001042492.3(NF1):c.7531G>A (p.Val2511Ile)
|
|
|
NM_001042492.3(NF1):c.7539G>C (p.Gln2513His)
|
rs2070170345
|
|
NM_001042492.3(NF1):c.753C>G (p.Asp251Glu)
|
rs1567826636
|
|
NM_001042492.3(NF1):c.7540A>G (p.Thr2514Ala)
|
rs1597862168
|
|
NM_001042492.3(NF1):c.7543A>C (p.Ser2515Arg)
|
|
|
NM_001042492.3(NF1):c.7543A>G (p.Ser2515Gly)
|
rs2070170553
|
|
NM_001042492.3(NF1):c.7544G>T (p.Ser2515Ile)
|
rs1597862174
|
|
NM_001042492.3(NF1):c.7546C>T (p.Pro2516Ser)
|
rs753977783
|
|
NM_001042492.3(NF1):c.7547C>A (p.Pro2516His)
|
|
|
NM_001042492.3(NF1):c.754T>G (p.Leu252Val)
|
|
|
NM_001042492.3(NF1):c.7550G>A (p.Arg2517Gln)
|
rs755260088
|
|
NM_001042492.3(NF1):c.7550G>C (p.Arg2517Pro)
|
|
|
NM_001042492.3(NF1):c.7553C>A (p.Ala2518Asp)
|
rs1060500265
|
|
NM_001042492.3(NF1):c.7564A>G (p.Met2522Val)
|
rs1597862205
|
|
NM_001042492.3(NF1):c.7566G>A (p.Met2522Ile)
|
rs2070171212
|
|
NM_001042492.3(NF1):c.7568G>A (p.Ser2523Asn)
|
|
|
NM_001042492.3(NF1):c.7568_7615+1494del
|
|
|
NM_001042492.3(NF1):c.7570C>G (p.Leu2524Val)
|
|
|
NM_001042492.3(NF1):c.7579G>A (p.Gly2527Arg)
|
rs2151577333
|
|
NM_001042492.3(NF1):c.757G>A (p.Val253Met)
|
rs786203607
|
|
NM_001042492.3(NF1):c.757G>C (p.Val253Leu)
|
rs786203607
|
|
NM_001042492.3(NF1):c.757G>T (p.Val253Leu)
|
rs786203607
|
|
NM_001042492.3(NF1):c.7580G>A (p.Gly2527Glu)
|
rs2151577339
|
|
NM_001042492.3(NF1):c.7588T>C (p.Ser2530Pro)
|
rs1567625190
|
|
NM_001042492.3(NF1):c.758T>A (p.Val253Glu)
|
rs2066156105
|
|
NM_001042492.3(NF1):c.7593G>C (p.Gln2531His)
|
rs2070172055
|
|
NM_001042492.3(NF1):c.7594G>A (p.Ala2532Thr)
|
rs1555536373
|
|
NM_001042492.3(NF1):c.7597A>T (p.Asn2533Tyr)
|
rs2151577390
|
|
NM_001042492.3(NF1):c.7598A>G (p.Asn2533Ser)
|
|
|
NM_001042492.3(NF1):c.7603A>G (p.Lys2535Glu)
|
|
|
NM_001042492.3(NF1):c.7608G>T (p.Lys2536Asn)
|
rs1597862283
|
|
NM_001042492.3(NF1):c.7609T>G (p.Leu2537Val)
|
|
|
NM_001042492.3(NF1):c.7610T>C (p.Leu2537Ser)
|
rs876658670
|
|
NM_001042492.3(NF1):c.7615+1_7615+5dup
|
|
|
NM_001042492.3(NF1):c.7615+5G>A
|
rs1555536382
|
|
NM_001042492.3(NF1):c.7615+6T>C
|
|
|
NM_001042492.3(NF1):c.7615G>A (p.Gly2539Arg)
|
|
|
NM_001042492.3(NF1):c.7616-13C>G
|
|
|
NM_001042492.3(NF1):c.7616G>C (p.Gly2539Ala)
|
rs1597865736
|
|
NM_001042492.3(NF1):c.7618A>G (p.Thr2540Ala)
|
rs1555536632
|
|
NM_001042492.3(NF1):c.7619C>A (p.Thr2540Lys)
|
rs1555536633
|
|
NM_001042492.3(NF1):c.761A>G (p.Asp254Gly)
|
rs2066156209
|
|
NM_001042492.3(NF1):c.7623_7625del (p.Lys2542del)
|
rs2151581007
|
|
NM_001042492.3(NF1):c.7633G>T (p.Asp2545Tyr)
|
|
|
NM_001042492.3(NF1):c.7635T>A (p.Asp2545Glu)
|
rs876659530
|
|
NM_001042492.3(NF1):c.7637A>C (p.His2546Pro)
|
|
|
NM_001042492.3(NF1):c.763G>A (p.Gly255Ser)
|
rs773207833
|
|
NM_001042492.3(NF1):c.7642A>G (p.Ile2548Val)
|
rs1555536636
|
|
NM_001042492.3(NF1):c.7642A>T (p.Ile2548Leu)
|
|
|
NM_001042492.3(NF1):c.7643T>A (p.Ile2548Lys)
|
rs864622266
|
|
NM_001042492.3(NF1):c.7644A>G (p.Ile2548Met)
|
rs2070273405
|
|
NM_001042492.3(NF1):c.7648G>C (p.Asp2550His)
|
rs2151581078
|
|
NM_001042492.3(NF1):c.7649A>C (p.Asp2550Ala)
|
|
|
NM_001042492.3(NF1):c.7651A>G (p.Thr2551Ala)
|
rs2151581089
|
|
NM_001042492.3(NF1):c.7657G>C (p.Ala2553Pro)
|
rs1555536644
|
|
NM_001042492.3(NF1):c.7657G>T (p.Ala2553Ser)
|
rs1555536644
|
|
NM_001042492.3(NF1):c.7660C>T (p.Pro2554Ser)
|
|
|
NM_001042492.3(NF1):c.7663A>G (p.Lys2555Glu)
|
rs786203792
|
|
NM_001042492.3(NF1):c.7667G>T (p.Arg2556Met)
|
rs1597865787
|
|
NM_001042492.3(NF1):c.7669C>G (p.Gln2557Glu)
|
rs2151581157
|
|
NM_001042492.3(NF1):c.7670A>C (p.Gln2557Pro)
|
rs2070273995
|
|
NM_001042492.3(NF1):c.7674A>T (p.Glu2558Asp)
|
|
|
NM_001042492.3(NF1):c.7676T>C (p.Met2559Thr)
|
rs2070274119
|
|
NM_001042492.3(NF1):c.7684G>A (p.Gly2562Arg)
|
rs1555536647
|
|
NM_001042492.3(NF1):c.7685G>T (p.Gly2562Val)
|
rs2070274448
|
|
NM_001042492.3(NF1):c.7687A>C (p.Ile2563Leu)
|
rs1555536648
|
|
NM_001042492.3(NF1):c.7687A>G (p.Ile2563Val)
|
rs1555536648
|
|
NM_001042492.3(NF1):c.7688T>A (p.Ile2563Asn)
|
|
|
NM_001042492.3(NF1):c.768T>G (p.Phe256Leu)
|
rs1597659838
|
|
NM_001042492.3(NF1):c.7690A>C (p.Thr2564Pro)
|
rs2151581238
|
|
NM_001042492.3(NF1):c.7693A>C (p.Thr2565Pro)
|
rs786202548
|
|
NM_001042492.3(NF1):c.7693A>G (p.Thr2565Ala)
|
rs786202548
|
|
NM_001042492.3(NF1):c.7694C>T (p.Thr2565Ile)
|
|
|
NM_001042492.3(NF1):c.7696C>A (p.Pro2566Thr)
|
|
|
NM_001042492.3(NF1):c.7696C>G (p.Pro2566Ala)
|
rs2151581259
|
|
NM_001042492.3(NF1):c.7697C>T (p.Pro2566Leu)
|
rs1218492217
|
|
NM_001042492.3(NF1):c.769G>C (p.Ala257Pro)
|
rs2066156448
|
|
NM_001042492.3(NF1):c.76G>A (p.Gly26Arg)
|
rs778973022
|
|
NM_001042492.3(NF1):c.7700C>A (p.Pro2567His)
|
rs754511534
|
|
NM_001042492.3(NF1):c.7700C>G (p.Pro2567Arg)
|
rs754511534
|
|
NM_001042492.3(NF1):c.7703A>C (p.Lys2568Thr)
|
|
|
NM_001042492.3(NF1):c.7704A>C (p.Lys2568Asn)
|
|
|
NM_001042492.3(NF1):c.7705A>G (p.Met2569Val)
|
rs2070275038
|
|
NM_001042492.3(NF1):c.7706T>C (p.Met2569Thr)
|
rs2151581300
|
|
NM_001042492.3(NF1):c.7706T>G (p.Met2569Arg)
|
|
|
NM_001042492.3(NF1):c.7708A>G (p.Arg2570Gly)
|
rs786202086
|
|
NM_001042492.3(NF1):c.7709G>A (p.Arg2570Lys)
|
rs2151581311
|
|
NM_001042492.3(NF1):c.770C>G (p.Ala257Gly)
|
|
|
NM_001042492.3(NF1):c.770C>T (p.Ala257Val)
|
rs2143785365
|
|
NM_001042492.3(NF1):c.7711A>C (p.Arg2571=)
|
|
|
NM_001042492.3(NF1):c.7712G>A (p.Arg2571Lys)
|
rs1597865842
|
|
NM_001042492.3(NF1):c.7712G>C (p.Arg2571Thr)
|
|
|
NM_001042492.3(NF1):c.7714G>C (p.Val2572Leu)
|
rs1555536652
|
|
NM_001042492.3(NF1):c.7717G>A (p.Ala2573Thr)
|
rs1555536654
|
|
NM_001042492.3(NF1):c.7718C>A (p.Ala2573Glu)
|
rs2070275358
|
|
NM_001042492.3(NF1):c.7718C>G (p.Ala2573Gly)
|
|
|
NM_001042492.3(NF1):c.7724C>T (p.Thr2575Ile)
|
rs1597865850
|
|
NM_001042492.3(NF1):c.7727A>G (p.Asp2576Gly)
|
rs2151581354
|
|
NM_001042492.3(NF1):c.7729T>G (p.Tyr2577Asp)
|
|
|
NM_001042492.3(NF1):c.7735A>G (p.Met2579Val)
|
|
|
NM_001042492.3(NF1):c.7737G>A (p.Met2579Ile)
|
rs587781834
|
|
NM_001042492.3(NF1):c.7738+3G>A
|
rs771445239
|
|
NM_001042492.3(NF1):c.7738+6A>T
|
rs2070275951
|
|
NM_001042492.3(NF1):c.7739-11T>G
|
|
|
NM_001042492.3(NF1):c.7739-19_7739-11del
|
|
|
NM_001042492.3(NF1):c.7739-3C>A
|
rs747382969
|
|
NM_001042492.3(NF1):c.7739-3C>T
|
rs747382969
|
|
NM_001042492.3(NF1):c.7741A>G (p.Thr2581Ala)
|
|
|
NM_001042492.3(NF1):c.7741A>T (p.Thr2581Ser)
|
rs1597866308
|
|
NM_001042492.3(NF1):c.7744C>A (p.Gln2582Lys)
|
rs587781651
|
|
NM_001042492.3(NF1):c.7744C>G (p.Gln2582Glu)
|
|
|
NM_001042492.3(NF1):c.7745A>G (p.Gln2582Arg)
|
rs2151582173
|
|
NM_001042492.3(NF1):c.7748G>A (p.Arg2583Lys)
|
rs2151582191
|
|
NM_001042492.3(NF1):c.7751T>G (p.Ile2584Ser)
|
rs1597866331
|
|
NM_001042492.3(NF1):c.7754C>T (p.Ser2585Phe)
|
|
|
NM_001042492.3(NF1):c.7762C>G (p.Gln2588Glu)
|
|
|
NM_001042492.3(NF1):c.7763A>G (p.Gln2588Arg)
|
|
|
NM_001042492.3(NF1):c.7763A>T (p.Gln2588Leu)
|
|
|
NM_001042492.3(NF1):c.7767G>C (p.Gln2589His)
|
rs587782168
|
|
NM_001042492.3(NF1):c.7768C>T (p.His2590Tyr)
|
rs1555536690
|
|
NM_001042492.3(NF1):c.7769A>C (p.His2590Pro)
|
|
|
NM_001042492.3(NF1):c.776G>A (p.Ser259Asn)
|
rs2066156591
|
|
NM_001042492.3(NF1):c.776G>T (p.Ser259Ile)
|
|
|
NM_001042492.3(NF1):c.7770C>A (p.His2590Gln)
|
rs1060503906
|
|
NM_001042492.3(NF1):c.7772C>G (p.Pro2591Arg)
|
|
|
NM_001042492.3(NF1):c.7774C>A (p.His2592Asn)
|
rs749460130
|
|
NM_001042492.3(NF1):c.7774C>G (p.His2592Asp)
|
|
|
NM_001042492.3(NF1):c.7774C>T (p.His2592Tyr)
|
|
|
NM_001042492.3(NF1):c.7775A>G (p.His2592Arg)
|
|
|
NM_001042492.3(NF1):c.7775A>T (p.His2592Leu)
|
rs1597866394
|
|
NM_001042492.3(NF1):c.7775_7780del (p.His2592_Leu2593del)
|
|
|
NM_001042492.3(NF1):c.7776T>A (p.His2592Gln)
|
rs1555536692
|
|
NM_001042492.3(NF1):c.7776T>G (p.His2592Gln)
|
|
|
NM_001042492.3(NF1):c.7781G>C (p.Arg2594Pro)
|
|
|
NM_001042492.3(NF1):c.7781G>T (p.Arg2594Leu)
|
rs774781617
|
|
NM_001042492.3(NF1):c.7783A>G (p.Lys2595Glu)
|
rs2151582291
|
|
NM_001042492.3(NF1):c.7786G>A (p.Val2596Ile)
|
|
|
NM_001042492.3(NF1):c.7789T>C (p.Ser2597Pro)
|
rs864622364
|
|
NM_001042492.3(NF1):c.778A>G (p.Thr260Ala)
|
rs1466892954
|
|
NM_001042492.3(NF1):c.7792G>A (p.Val2598Met)
|
|
|
NM_001042492.3(NF1):c.7792G>C (p.Val2598Leu)
|
|
|
NM_001042492.3(NF1):c.7792G>T (p.Val2598Leu)
|
rs2151582315
|
|
NM_001042492.3(NF1):c.779C>T (p.Thr260Ile)
|
rs1567826665
|
|
NM_001042492.3(NF1):c.77G>A (p.Gly26Glu)
|
rs2143625375
|
|
NM_001042492.3(NF1):c.7804A>G (p.Asn2602Asp)
|
rs150657839
|
|
NM_001042492.3(NF1):c.7804A>T (p.Asn2602Tyr)
|
rs150657839
|
|
NM_001042492.3(NF1):c.7805A>G (p.Asn2602Ser)
|
rs2151582358
|
|
NM_001042492.3(NF1):c.7806T>A (p.Asn2602Lys)
|
|
|
NM_001042492.3(NF1):c.7807G>A (p.Val2603Ile)
|
rs766135206
|
|
NM_001042492.3(NF1):c.7807G>C (p.Val2603Leu)
|
rs766135206
|
|
NM_001042492.3(NF1):c.7808T>C (p.Val2603Ala)
|
rs1597866454
|
|
NM_001042492.3(NF1):c.7810C>T (p.Leu2604Phe)
|
rs776602307
|
|
NM_001042492.3(NF1):c.7815G>A (p.Leu2605=)
|
rs1555536703
|
|
NM_001042492.3(NF1):c.7816G>A (p.Asp2606Asn)
|
rs2151582401
|
|
NM_001042492.3(NF1):c.7818T>A (p.Asp2606Glu)
|
|
|
NM_001042492.3(NF1):c.781A>C (p.Lys261Gln)
|
rs2066156804
|
|
NM_001042492.3(NF1):c.7820A>C (p.Glu2607Ala)
|
rs1597866483
|
|
NM_001042492.3(NF1):c.7820A>G (p.Glu2607Gly)
|
rs1597866483
|
|
NM_001042492.3(NF1):c.7820AAG[1] (p.Glu2608del)
|
rs2070288954
|
|
NM_001042492.3(NF1):c.7822G>A (p.Glu2608Lys)
|
rs1597866487
|
|
NM_001042492.3(NF1):c.7823A>G (p.Glu2608Gly)
|
rs2070289110
|
|
NM_001042492.3(NF1):c.7823A>T (p.Glu2608Val)
|
|
|
NM_001042492.3(NF1):c.7824A>T (p.Glu2608Asp)
|
rs1567626984
|
|
NM_001042492.3(NF1):c.7825G>C (p.Val2609Leu)
|
rs786203848
|
|
NM_001042492.3(NF1):c.7826T>C (p.Val2609Ala)
|
|
|
NM_001042492.3(NF1):c.7828C>G (p.Leu2610Val)
|
|
|
NM_001042492.3(NF1):c.7828C>T (p.Leu2610Phe)
|
|
|
NM_001042492.3(NF1):c.7829T>C (p.Leu2610Pro)
|
|
|
NM_001042492.3(NF1):c.782A>G (p.Lys261Arg)
|
|
|
NM_001042492.3(NF1):c.7831A>G (p.Thr2611Ala)
|
rs759424718
|
|
NM_001042492.3(NF1):c.7834G>A (p.Asp2612Asn)
|
|
|
NM_001042492.3(NF1):c.7837C>A (p.Pro2613Thr)
|
rs138839077
|
|
NM_001042492.3(NF1):c.7838C>A (p.Pro2613Gln)
|
rs750972729
|
|
NM_001042492.3(NF1):c.7840A>G (p.Lys2614Glu)
|
|
|
NM_001042492.3(NF1):c.7842G>T (p.Lys2614Asn)
|
rs1555536710
|
|
NM_001042492.3(NF1):c.7844T>A (p.Ile2615Asn)
|
rs1555536711
|
|
NM_001042492.3(NF1):c.7844T>G (p.Ile2615Ser)
|
|
|
NM_001042492.3(NF1):c.7845_7847del (p.Ile2615_Gln2616delinsMet)
|
rs2070290251
|
|
NM_001042492.3(NF1):c.7846C>G (p.Gln2616Glu)
|
rs1555536713
|
|
NM_001042492.3(NF1):c.7847A>G (p.Gln2616Arg)
|
rs876659308
|
|
NM_001042492.3(NF1):c.784C>T (p.Arg262Cys)
|
rs754343223
|
|
NM_001042492.3(NF1):c.7855C>T (p.Leu2619Phe)
|
rs781437770
|
|
NM_001042492.3(NF1):c.7855CTT[1] (p.Leu2620del)
|
|
|
NM_001042492.3(NF1):c.7856T>G (p.Leu2619Arg)
|
rs916881278
|
|
NM_001042492.3(NF1):c.7859T>G (p.Leu2620Arg)
|
rs2151582531
|
|
NM_001042492.3(NF1):c.785G>A (p.Arg262His)
|
rs1555608957
|
|
NM_001042492.3(NF1):c.785G>C (p.Arg262Pro)
|
rs1555608957
|
|
NM_001042492.3(NF1):c.7864G>A (p.Val2622Ile)
|
rs1471144465
|
|
NM_001042492.3(NF1):c.7864G>C (p.Val2622Leu)
|
rs1471144465
|
|
NM_001042492.3(NF1):c.7867C>A (p.Leu2623Ile)
|
|
|
NM_001042492.3(NF1):c.7867C>G (p.Leu2623Val)
|
rs1555536721
|
|
NM_001042492.3(NF1):c.7869+4A>G
|
rs1567627046
|
|
NM_001042492.3(NF1):c.7869+5G>A
|
rs1555536725
|
|
NM_001042492.3(NF1):c.7869+5G>C
|
rs1555536725
|
|
NM_001042492.3(NF1):c.7869A>G (p.Leu2623=)
|
rs876659536
|
|
NM_001042492.3(NF1):c.7870-13dup
|
rs369360556
|
|
NM_001042492.3(NF1):c.7870-19C>G
|
|
|
NM_001042492.3(NF1):c.7870-20A>G
|
rs574898272
|
|
NM_001042492.3(NF1):c.7870-3C>T
|
rs1597866792
|
|
NM_001042492.3(NF1):c.7870-5G>T
|
rs1169181885
|
|
NM_001042492.3(NF1):c.7870-6T>A
|
rs2151583143
|
|
NM_001042492.3(NF1):c.7870G>A (p.Ala2624Thr)
|
rs1597866802
|
|
NM_001042492.3(NF1):c.7870G>C (p.Ala2624Pro)
|
rs1597866802
|
|
NM_001042492.3(NF1):c.7873A>G (p.Thr2625Ala)
|
rs2070296220
|
|
NM_001042492.3(NF1):c.7874C>T (p.Thr2625Ile)
|
rs2151583169
|
|
NM_001042492.3(NF1):c.7876C>A (p.Leu2626Met)
|
rs1555536748
|
|
NM_001042492.3(NF1):c.7877T>A (p.Leu2626Gln)
|
rs2151583174
|
|
NM_001042492.3(NF1):c.7888A>G (p.Thr2630Ala)
|
rs1567627155
|
|
NM_001042492.3(NF1):c.7889C>T (p.Thr2630Ile)
|
rs1283946778
|
|
NM_001042492.3(NF1):c.7896T>A (p.Asp2632Glu)
|
rs1277560744
|
|
NM_001042492.3(NF1):c.7898A>T (p.Glu2633Val)
|
|
|
NM_001042492.3(NF1):c.7902T>A (p.Phe2634Leu)
|
rs2151583253
|
|
NM_001042492.3(NF1):c.7903G>A (p.Asp2635Asn)
|
rs2151583254
|
|
NM_001042492.3(NF1):c.7904A>T (p.Asp2635Val)
|
rs2070297198
|
|
NM_001042492.3(NF1):c.7905T>A (p.Asp2635Glu)
|
|
|
NM_001042492.3(NF1):c.7905T>G (p.Asp2635Glu)
|
|
|
NM_001042492.3(NF1):c.7906C>G (p.Gln2636Glu)
|
|
|
NM_001042492.3(NF1):c.7907A>C (p.Gln2636Pro)
|
rs1597866867
|
|
NM_001042492.3(NF1):c.790G>A (p.Ala264Thr)
|
|
|
NM_001042492.3(NF1):c.7910G>T (p.Arg2637Leu)
|
rs560262404
|
|
NM_001042492.3(NF1):c.7912A>C (p.Ile2638Leu)
|
|
|
NM_001042492.3(NF1):c.7912A>G (p.Ile2638Val)
|
rs2151583282
|
|
NM_001042492.3(NF1):c.7913T>G (p.Ile2638Ser)
|
rs2151583287
|
|
NM_001042492.3(NF1):c.7914T>G (p.Ile2638Met)
|
rs1597866892
|
|
NM_001042492.3(NF1):c.7915C>A (p.Leu2639Ile)
|
rs1057518362
|
|
NM_001042492.3(NF1):c.7915C>G (p.Leu2639Val)
|
rs1057518362
|
|
NM_001042492.3(NF1):c.7915C>T (p.Leu2639Phe)
|
rs1057518362
|
|
NM_001042492.3(NF1):c.7919A>G (p.Tyr2640Cys)
|
rs1597866901
|
|
NM_001042492.3(NF1):c.7919A>T (p.Tyr2640Phe)
|
rs1597866901
|
|
NM_001042492.3(NF1):c.791C>T (p.Ala264Val)
|
rs2143785708
|
|
NM_001042492.3(NF1):c.7921G>A (p.Glu2641Lys)
|
rs2151583310
|
|
NM_001042492.3(NF1):c.7922A>C (p.Glu2641Ala)
|
rs876658205
|
|
NM_001042492.3(NF1):c.7922A>G (p.Glu2641Gly)
|
|
|
NM_001042492.3(NF1):c.7922A>T (p.Glu2641Val)
|
rs876658205
|
|
NM_001042492.3(NF1):c.7930G>C (p.Ala2644Pro)
|
rs2070298197
|
|
NM_001042492.3(NF1):c.7933G>A (p.Glu2645Lys)
|
|
|
NM_001042492.3(NF1):c.7934A>G (p.Glu2645Gly)
|
|
|
NM_001042492.3(NF1):c.7937C>T (p.Ala2646Val)
|
|
|
NM_001042492.3(NF1):c.7940G>A (p.Ser2647Asn)
|
|
|
NM_001042492.3(NF1):c.7943T>C (p.Val2648Ala)
|
|
|
NM_001042492.3(NF1):c.7945G>A (p.Val2649Met)
|
rs1555536761
|
|
NM_001042492.3(NF1):c.7945G>C (p.Val2649Leu)
|
rs1555536761
|
|
NM_001042492.3(NF1):c.7946T>G (p.Val2649Gly)
|
|
|
NM_001042492.3(NF1):c.7948T>C (p.Phe2650Leu)
|
|
|
NM_001042492.3(NF1):c.7948T>G (p.Phe2650Val)
|
|
|
NM_001042492.3(NF1):c.7949T>G (p.Phe2650Cys)
|
rs754443238
|
|
NM_001042492.3(NF1):c.794C>T (p.Ala265Val)
|
|
|
NM_001042492.3(NF1):c.7954A>G (p.Lys2652Glu)
|
|
|
NM_001042492.3(NF1):c.7955A>G (p.Lys2652Arg)
|
rs1597866986
|
|
NM_001042492.3(NF1):c.7962T>G (p.Phe2654Leu)
|
rs1597867008
|
|
NM_001042492.3(NF1):c.7963C>A (p.Pro2655Thr)
|
rs587781791
|
|
NM_001042492.3(NF1):c.7963C>G (p.Pro2655Ala)
|
rs587781791
|
|
NM_001042492.3(NF1):c.7963C>T (p.Pro2655Ser)
|
rs587781791
|
|
NM_001042492.3(NF1):c.7964C>T (p.Pro2655Leu)
|
rs2070299592
|
|
NM_001042492.3(NF1):c.7966G>A (p.Val2656Ile)
|
|
|
NM_001042492.3(NF1):c.7969G>A (p.Val2657Met)
|
|
|
NM_001042492.3(NF1):c.7969G>C (p.Val2657Leu)
|
rs1597867034
|
|
NM_001042492.3(NF1):c.796G>A (p.Val266Ile)
|
rs2066157267
|
|
NM_001042492.3(NF1):c.7970+3A>G
|
rs1567627282
|
|
NM_001042492.3(NF1):c.7970+3_7970+4del
|
rs2151583488
|
|
NM_001042492.3(NF1):c.7970+4_7970+7del
|
rs1064794279
|
|
NM_001042492.3(NF1):c.7970+5G>A
|
rs1567627286
|
|
NM_001042492.3(NF1):c.7970+6T>G
|
rs1555536775
|
|
NM_001042492.3(NF1):c.7970+7A>G
|
rs1597867052
|
|
NM_001042492.3(NF1):c.7971-1G>T
|
rs1417908560
|
|
NM_001042492.3(NF1):c.7971-3T>G
|
rs2151584771
|
|
NM_001042492.3(NF1):c.7971-4T>G
|
rs1555536865
|
|
NM_001042492.3(NF1):c.7972C>A (p.His2658Asn)
|
rs1555536868
|
|
NM_001042492.3(NF1):c.7975A>C (p.Asn2659His)
|
rs1177245412
|
|
NM_001042492.3(NF1):c.7976A>C (p.Asn2659Thr)
|
rs1597868051
|
|
NM_001042492.3(NF1):c.797T>G (p.Val266Gly)
|
rs2143785789
|
|
NM_001042492.3(NF1):c.7981T>G (p.Leu2661Val)
|
|
|
NM_001042492.3(NF1):c.7987T>A (p.Ser2663Thr)
|
rs2151584821
|
|
NM_001042492.3(NF1):c.7988C>A (p.Ser2663Tyr)
|
|
|
NM_001042492.3(NF1):c.7988C>G (p.Ser2663Cys)
|
rs786202579
|
|
NM_001042492.3(NF1):c.7988C>T (p.Ser2663Phe)
|
rs786202579
|
|
NM_001042492.3(NF1):c.7990A>G (p.Lys2664Glu)
|
|
|
NM_001042492.3(NF1):c.7992G>C (p.Lys2664Asn)
|
rs1060500377
|
|
NM_001042492.3(NF1):c.7992G>T (p.Lys2664Asn)
|
|
|
NM_001042492.3(NF1):c.7995C>G (p.Ile2665Met)
|
rs1037082087
|
|
NM_001042492.3(NF1):c.7996A>G (p.Asn2666Asp)
|
rs1555536888
|
|
NM_001042492.3(NF1):c.7997A>G (p.Asn2666Ser)
|
|
|
NM_001042492.3(NF1):c.7999A>G (p.Thr2667Ala)
|
rs995645937
|
|
NM_001042492.3(NF1):c.7999A>T (p.Thr2667Ser)
|
|
|
NM_001042492.3(NF1):c.799_802del (p.Trp267fs)
|
rs1567826683
|
|
NM_001042492.3(NF1):c.8000C>G (p.Thr2667Ser)
|
rs786203669
|
|
NM_001042492.3(NF1):c.8000C>T (p.Thr2667Ile)
|
rs786203669
|
|
NM_001042492.3(NF1):c.8002C>A (p.Leu2668Met)
|
rs1060503905
|
|
NM_001042492.3(NF1):c.8002C>G (p.Leu2668Val)
|
rs1060503905
|
|
NM_001042492.3(NF1):c.8005T>A (p.Leu2669Ile)
|
|
|
NM_001042492.3(NF1):c.8008T>C (p.Ser2670Pro)
|
rs1597868102
|
|
NM_001042492.3(NF1):c.8009C>T (p.Ser2670Leu)
|
rs1131691074
|
|
NM_001042492.3(NF1):c.8009_8011del (p.Ser2670del)
|
|
|
NM_001042492.3(NF1):c.8011T>A (p.Leu2671Met)
|
rs2070326229
|
|
NM_001042492.3(NF1):c.8020G>A (p.Asp2674Asn)
|
rs1597868123
|
|
NM_001042492.3(NF1):c.8023C>A (p.Pro2675Thr)
|
rs1597868132
|
|
NM_001042492.3(NF1):c.8024C>T (p.Pro2675Leu)
|
rs1260740048
|
|
NM_001042492.3(NF1):c.8026A>G (p.Asn2676Asp)
|
rs1555536902
|
|
NM_001042492.3(NF1):c.8032T>A (p.Leu2678Ile)
|
rs1597868148
|
|
NM_001042492.3(NF1):c.8036A>C (p.Asn2679Thr)
|
|
|
NM_001042492.3(NF1):c.8039C>G (p.Pro2680Arg)
|
rs2151584968
|
|
NM_001042492.3(NF1):c.8039C>T (p.Pro2680Leu)
|
|
|
NM_001042492.3(NF1):c.803C>A (p.Pro268Gln)
|
rs1441060549
|
|
NM_001042492.3(NF1):c.803C>G (p.Pro268Arg)
|
|
|
NM_001042492.3(NF1):c.803C>T (p.Pro268Leu)
|
rs1441060549
|
|
NM_001042492.3(NF1):c.8046T>A (p.His2682Gln)
|
rs1184642602
|
|
NM_001042492.3(NF1):c.8048G>A (p.Gly2683Glu)
|
rs2070327151
|
|
NM_001042492.3(NF1):c.8048G>C (p.Gly2683Ala)
|
|
|
NM_001042492.3(NF1):c.8050A>C (p.Ile2684Leu)
|
rs1555536913
|
|
NM_001042492.3(NF1):c.8057A>G (p.Gln2686Arg)
|
rs890017184
|
|
NM_001042492.3(NF1):c.8058G>C (p.Gln2686His)
|
|
|
NM_001042492.3(NF1):c.8059A>T (p.Ser2687Cys)
|
rs2070327470
|
|
NM_001042492.3(NF1):c.8060G>T (p.Ser2687Ile)
|
rs1555536916
|
|
NM_001042492.3(NF1):c.8062G>A (p.Val2688Met)
|
|
|
NM_001042492.3(NF1):c.8062G>T (p.Val2688Leu)
|
rs1567627780
|
|
NM_001042492.3(NF1):c.8065G>A (p.Val2689Met)
|
rs761214867
|
|
NM_001042492.3(NF1):c.8072A>G (p.His2691Arg)
|
rs1597868213
|
|
NM_001042492.3(NF1):c.8075A>T (p.Glu2692Val)
|
|
|
NM_001042492.3(NF1):c.8080T>A (p.Ser2694Thr)
|
rs876658554
|
|
NM_001042492.3(NF1):c.8081C>A (p.Ser2694Tyr)
|
rs1597868223
|
|
NM_001042492.3(NF1):c.8083C>T (p.Pro2695Ser)
|
rs772707560
|
|
NM_001042492.3(NF1):c.8084C>T (p.Pro2695Leu)
|
rs2070328290
|
|
NM_001042492.3(NF1):c.8086C>A (p.Pro2696Thr)
|
rs764508546
|
|
NM_001042492.3(NF1):c.8086C>T (p.Pro2696Ser)
|
|
|
NM_001042492.3(NF1):c.8087C>G (p.Pro2696Arg)
|
rs1597868252
|
|
NM_001042492.3(NF1):c.808C>G (p.Gln270Glu)
|
rs1555608970
|
|
NM_001042492.3(NF1):c.8090A>C (p.Gln2697Pro)
|
rs2151585121
|
|
NM_001042492.3(NF1):c.8091A>C (p.Gln2697His)
|
|
|
NM_001042492.3(NF1):c.8095C>G (p.Gln2699Glu)
|
rs786203443
|
|
NM_001042492.3(NF1):c.809A>G (p.Gln270Arg)
|
rs1597659939
|
|
NM_001042492.3(NF1):c.809A>T (p.Gln270Leu)
|
|
|
NM_001042492.3(NF1):c.8104T>C (p.Tyr2702His)
|
|
|
NM_001042492.3(NF1):c.8107C>A (p.Leu2703Met)
|
rs955074155
|
|
NM_001042492.3(NF1):c.8108T>C (p.Leu2703Pro)
|
|
|
NM_001042492.3(NF1):c.810A>G (p.Gln270=)
|
rs2066157647
|
|
NM_001042492.3(NF1):c.8111A>C (p.Gln2704Pro)
|
rs2151585162
|
|
NM_001042492.3(NF1):c.8113+12T>C
|
|
|
NM_001042492.3(NF1):c.8113+6T>G
|
|
|
NM_001042492.3(NF1):c.8113+93A>T
|
|
|
NM_001042492.3(NF1):c.8113A>G (p.Ser2705Gly)
|
rs1597868305
|
|
NM_001042492.3(NF1):c.8114-3C>G
|
|
|
NM_001042492.3(NF1):c.8114G>A (p.Ser2705Asn)
|
|
|
NM_001042492.3(NF1):c.8124T>A (p.Phe2708Leu)
|
rs2151585975
|
|
NM_001042492.3(NF1):c.8126A>G (p.Asn2709Ser)
|
rs2070339296
|
|
NM_001042492.3(NF1):c.8128G>A (p.Gly2710Ser)
|
|
|
NM_001042492.3(NF1):c.8129G>A (p.Gly2710Asp)
|
rs1597868740
|
|
NM_001042492.3(NF1):c.8129G>T (p.Gly2710Val)
|
rs1597868740
|
|
NM_001042492.3(NF1):c.812T>C (p.Ile271Thr)
|
rs1597659948
|
|
NM_001042492.3(NF1):c.8137C>T (p.Arg2713Trp)
|
rs757391670
|
|
NM_001042492.3(NF1):c.8138G>A (p.Arg2713Gln)
|
rs1170836879
|
|
NM_001042492.3(NF1):c.8139dup (p.Phe2714fs)
|
rs1567628013
|
|
NM_001042492.3(NF1):c.8141T>A (p.Phe2714Tyr)
|
rs2151586035
|
|
NM_001042492.3(NF1):c.8143G>A (p.Ala2715Thr)
|
rs2070340047
|
|
NM_001042492.3(NF1):c.8144C>T (p.Ala2715Val)
|
rs1597868802
|
|
NM_001042492.3(NF1):c.8148A>T (p.Gly2716=)
|
rs2151586062
|
|
NM_001042492.3(NF1):c.814A>G (p.Ile272Val)
|
rs1555608971
|
|
NM_001042492.3(NF1):c.814_819del (p.Ile272_Leu273del)
|
rs2143785976
|
|
NM_001042492.3(NF1):c.8152T>C (p.Phe2718Leu)
|
|
|
NM_001042492.3(NF1):c.8156C>T (p.Ser2719Leu)
|
|
|
NM_001042492.3(NF1):c.8158A>G (p.Lys2720Glu)
|
rs1597868832
|
|
NM_001042492.3(NF1):c.8160+2T>G
|
rs1135402909
|
|
NM_001042492.3(NF1):c.8160+4A>C
|
rs1555537033
|
|
NM_001042492.3(NF1):c.8160+4A>G
|
rs1555537033
|
|
NM_001042492.3(NF1):c.8160+5G>A
|
|
|
NM_001042492.3(NF1):c.8160G>A (p.Lys2720=)
|
rs1555537030
|
|
NM_001042492.3(NF1):c.8160G>C (p.Lys2720Asn)
|
rs1555537030
|
|
NM_001042492.3(NF1):c.8161-3C>T
|
rs786203684
|
|
NM_001042492.3(NF1):c.8161-4A>G
|
rs2151587589
|
|
NM_001042492.3(NF1):c.8161C>G (p.Gln2721Glu)
|
rs2070372971
|
|
NM_001042492.3(NF1):c.8162A>G (p.Gln2721Arg)
|
rs876657933
|
|
NM_001042492.3(NF1):c.8163A>C (p.Gln2721His)
|
|
|
NM_001042492.3(NF1):c.8176G>A (p.Asp2726Asn)
|
rs1135402910
|
|
NM_001042492.3(NF1):c.8177A>G (p.Asp2726Gly)
|
|
|
NM_001042492.3(NF1):c.8179T>C (p.Tyr2727His)
|
rs876660178
|
|
NM_001042492.3(NF1):c.8183C>T (p.Ala2728Val)
|
rs760973918
|
|
NM_001042492.3(NF1):c.8188C>T (p.Leu2730Phe)
|
rs2151587710
|
|
NM_001042492.3(NF1):c.8198A>C (p.Lys2733Thr)
|
rs2070373730
|
|
NM_001042492.3(NF1):c.8203C>G (p.Leu2735Val)
|
|
|
NM_001042492.3(NF1):c.8206G>A (p.Asp2736Asn)
|
rs1597870148
|
|
NM_001042492.3(NF1):c.8207A>G (p.Asp2736Gly)
|
|
|
NM_001042492.3(NF1):c.8209G>A (p.Ala2737Thr)
|
rs2151587791
|
|
NM_001042492.3(NF1):c.8210C>G (p.Ala2737Gly)
|
|
|
NM_001042492.3(NF1):c.8214G>C (p.Leu2738Phe)
|
rs786201597
|
|
NM_001042492.3(NF1):c.8215A>G (p.Ile2739Val)
|
|
|
NM_001042492.3(NF1):c.8217_8218delinsAA (p.Asp2740Asn)
|
|
|
NM_001042492.3(NF1):c.8218G>A (p.Asp2740Asn)
|
rs1555537228
|
|
NM_001042492.3(NF1):c.821T>A (p.Leu274His)
|
rs2066157974
|
|
NM_001042492.3(NF1):c.821T>C (p.Leu274Pro)
|
rs2066157974
|
|
NM_001042492.3(NF1):c.821T>G (p.Leu274Arg)
|
rs2066157974
|
|
NM_001042492.3(NF1):c.8220C>G (p.Asp2740Glu)
|
rs2070374242
|
|
NM_001042492.3(NF1):c.8222C>A (p.Thr2741Lys)
|
rs144178015
|
|
NM_001042492.3(NF1):c.8222C>T (p.Thr2741Met)
|
rs144178015
|
|
NM_001042492.3(NF1):c.8227C>A (p.Leu2743Met)
|
|
|
NM_001042492.3(NF1):c.8227C>G (p.Leu2743Val)
|
rs1597870180
|
|
NM_001042492.3(NF1):c.8230C>T (p.Pro2744Ser)
|
|
|
NM_001042492.3(NF1):c.8231C>G (p.Pro2744Arg)
|
|
|
NM_001042492.3(NF1):c.8239G>A (p.Asp2747Asn)
|
rs745472917
|
|
NM_001042492.3(NF1):c.823A>C (p.Ile275Leu)
|
rs786202464
|
|
NM_001042492.3(NF1):c.823A>G (p.Ile275Val)
|
rs786202464
|
|
NM_001042492.3(NF1):c.823A>T (p.Ile275Phe)
|
rs786202464
|
|
NM_001042492.3(NF1):c.8240A>G (p.Asp2747Gly)
|
rs2151587891
|
|
NM_001042492.3(NF1):c.8241T>A (p.Asp2747Glu)
|
|
|
NM_001042492.3(NF1):c.8243A>C (p.Glu2748Ala)
|
|
|
NM_001042492.3(NF1):c.8244A>T (p.Glu2748Asp)
|
rs878853919
|
|
NM_001042492.3(NF1):c.8248A>G (p.Thr2750Ala)
|
|
|
NM_001042492.3(NF1):c.8249C>G (p.Thr2750Ser)
|
rs2070374835
|
|
NM_001042492.3(NF1):c.8249C>T (p.Thr2750Ile)
|
|
|
NM_001042492.3(NF1):c.8252G>A (p.Ser2751Asn)
|
rs2151587925
|
|
NM_001042492.3(NF1):c.8252G>T (p.Ser2751Ile)
|
rs2151587925
|
|
NM_001042492.3(NF1):c.8259A>C (p.Glu2753Asp)
|
rs2070374976
|
|
NM_001042492.3(NF1):c.825C>G (p.Ile275Met)
|
|
|
NM_001042492.3(NF1):c.825C>T (p.Ile275=)
|
rs1597659985
|
|
NM_001042492.3(NF1):c.8261C>T (p.Ser2754Phe)
|
rs2151587952
|
|
NM_001042492.3(NF1):c.8263C>G (p.Leu2755Val)
|
|
|
NM_001042492.3(NF1):c.8263C>T (p.Leu2755Phe)
|
|
|
NM_001042492.3(NF1):c.8267T>A (p.Leu2756Gln)
|
rs1555537241
|
|
NM_001042492.3(NF1):c.8267T>G (p.Leu2756Arg)
|
rs1555537241
|
|
NM_001042492.3(NF1):c.8269A>G (p.Thr2757Ala)
|
|
|
NM_001042492.3(NF1):c.8269_8293dup (p.Ala2765fs)
|
rs2151587957
|
|
NM_001042492.3(NF1):c.8270C>T (p.Thr2757Ile)
|
rs1555537244
|
|
NM_001042492.3(NF1):c.8270_8294dup (p.Leu2766fs)
|
rs1597870232
|
|
NM_001042492.3(NF1):c.8273C>G (p.Pro2758Arg)
|
rs2151588007
|
|
NM_001042492.3(NF1):c.8276C>T (p.Thr2759Ile)
|
|
|
NM_001042492.3(NF1):c.8278T>G (p.Ser2760Ala)
|
rs2151588025
|
|
NM_001042492.3(NF1):c.827T>C (p.Leu276Ser)
|
|
|
NM_001042492.3(NF1):c.8281C>T (p.Pro2761Ser)
|
rs2151588032
|
|
NM_001042492.3(NF1):c.8285A>C (p.Tyr2762Ser)
|
rs1597870238
|
|
NM_001042492.3(NF1):c.8287C>A (p.Pro2763Thr)
|
rs2070375557
|
|
NM_001042492.3(NF1):c.8288C>A (p.Pro2763His)
|
rs878853920
|
|
NM_001042492.3(NF1):c.8290C>T (p.Pro2764Ser)
|
|
|
NM_001042492.3(NF1):c.8293G>C (p.Ala2765Pro)
|
|
|
NM_001042492.3(NF1):c.8294C>T (p.Ala2765Val)
|
|
|
NM_001042492.3(NF1):c.829T>C (p.Cys277Arg)
|
|
|
NM_001042492.3(NF1):c.8300A>G (p.Gln2767Arg)
|
rs2151588076
|
|
NM_001042492.3(NF1):c.8301_8322dup (p.Asn2775delinsGluProAlaTer)
|
rs1597870268
|
|
NM_001042492.3(NF1):c.8303G>T (p.Ser2768Ile)
|
rs2151588087
|
|
NM_001042492.3(NF1):c.8307G>C (p.Gln2769His)
|
|
|
NM_001042492.3(NF1):c.830G>A (p.Cys277Tyr)
|
rs2066158274
|
|
NM_001042492.3(NF1):c.8312G>C (p.Ser2771Thr)
|
rs2070376310
|
|
NM_001042492.3(NF1):c.8314A>G (p.Ile2772Val)
|
rs762336662
|
|
NM_001042492.3(NF1):c.8318C>T (p.Thr2773Ile)
|
rs1597870290
|
|
NM_001042492.3(NF1):c.8321C>T (p.Ala2774Val)
|
|
|
NM_001042492.3(NF1):c.8323A>T (p.Asn2775Tyr)
|
rs1555537252
|
|
NM_001042492.3(NF1):c.8324A>C (p.Asn2775Thr)
|
rs772090874
|
|
NM_001042492.3(NF1):c.8324A>T (p.Asn2775Ile)
|
|
|
NM_001042492.3(NF1):c.8327T>G (p.Leu2776Arg)
|
|
|
NM_001042492.3(NF1):c.8333T>G (p.Leu2778Arg)
|
rs1555537253
|
|
NM_001042492.3(NF1):c.8336C>G (p.Ser2779Cys)
|
|
|
NM_001042492.3(NF1):c.8340T>G (p.Asn2780Lys)
|
|
|
NM_001042492.3(NF1):c.8348C>T (p.Thr2783Ile)
|
|
|
NM_001042492.3(NF1):c.8350_8351del (p.Ser2784fs)
|
|
|
NM_001042492.3(NF1):c.8357C>T (p.Ala2786Val)
|
rs2070377037
|
|
NM_001042492.3(NF1):c.835G>C (p.Glu279Gln)
|
|
|
NM_001042492.3(NF1):c.8360C>T (p.Thr2787Ile)
|
|
|
NM_001042492.3(NF1):c.8362T>G (p.Ser2788Ala)
|
rs374004608
|
|
NM_001042492.3(NF1):c.8363C>T (p.Ser2788Phe)
|
rs1567628713
|
|
NM_001042492.3(NF1):c.8366A>G (p.Gln2789Arg)
|
rs1454723879
|
|
NM_001042492.3(NF1):c.8366A>T (p.Gln2789Leu)
|
rs1454723879
|
|
NM_001042492.3(NF1):c.8369A>T (p.His2790Leu)
|
|
|
NM_001042492.3(NF1):c.8372C>T (p.Ser2791Phe)
|
rs1597870350
|
|
NM_001042492.3(NF1):c.8374C>T (p.Pro2792Ser)
|
rs2070377546
|
|
NM_001042492.3(NF1):c.8375C>T (p.Pro2792Leu)
|
|
|
NM_001042492.3(NF1):c.8376A>C (p.Pro2792=)
|
rs1028961967
|
|
NM_001042492.3(NF1):c.8377+4A>C
|
|
|
NM_001042492.3(NF1):c.8377+5G>A
|
|
|
NM_001042492.3(NF1):c.8377+6T>C
|
|
|
NM_001042492.3(NF1):c.8378-13T>C
|
rs903336927
|
|
NM_001042492.3(NF1):c.8378-3C>T
|
|
|
NM_001042492.3(NF1):c.8378-5214A>G
|
|
|
NM_001042492.3(NF1):c.8380A>G (p.Ile2794Val)
|
rs2151601231
|
|
NM_001042492.3(NF1):c.8381T>C (p.Ile2794Thr)
|
rs2151601235
|
|
NM_001042492.3(NF1):c.8381T>G (p.Ile2794Ser)
|
|
|
NM_001042492.3(NF1):c.8383G>A (p.Asp2795Asn)
|
rs1475978079
|
|
NM_001042492.3(NF1):c.8383G>C (p.Asp2795His)
|
rs1475978079
|
|
NM_001042492.3(NF1):c.8389G>A (p.Glu2797Lys)
|
|
|
NM_001042492.3(NF1):c.8389_8391del (p.Glu2797del)
|
rs1555538511
|
|
NM_001042492.3(NF1):c.8391dup (p.Asn2798fs)
|
rs1555538513
|
|
NM_001042492.3(NF1):c.8392A>T (p.Asn2798Tyr)
|
rs1555538514
|
|
NM_001042492.3(NF1):c.8393A>G (p.Asn2798Ser)
|
rs1555538515
|
|
NM_001042492.3(NF1):c.8394C>G (p.Asn2798Lys)
|
rs376136174
|
|
NM_001042492.3(NF1):c.8395G>C (p.Val2799Leu)
|
rs377393842
|
|
NM_001042492.3(NF1):c.8395G>T (p.Val2799Phe)
|
rs377393842
|
|
NM_001042492.3(NF1):c.8396T>C (p.Val2799Ala)
|
rs2070695501
|
|
NM_001042492.3(NF1):c.8398G>A (p.Glu2800Lys)
|
rs1597882991
|
|
NM_001042492.3(NF1):c.8398G>C (p.Glu2800Gln)
|
rs1597882991
|
|
NM_001042492.3(NF1):c.8399A>C (p.Glu2800Ala)
|
rs753479281
|
|
NM_001042492.3(NF1):c.839T>C (p.Ile280Thr)
|
rs1555608976
|
|
NM_001042492.3(NF1):c.8404T>C (p.Ser2802Pro)
|
rs1597883017
|
|
NM_001042492.3(NF1):c.8405C>A (p.Ser2802Tyr)
|
rs754638282
|
|
NM_001042492.3(NF1):c.8407C>A (p.Pro2803Thr)
|
rs779180729
|
|
NM_001042492.3(NF1):c.8407C>G (p.Pro2803Ala)
|
rs779180729
|
|
NM_001042492.3(NF1):c.8407C>T (p.Pro2803Ser)
|
rs779180729
|
|
NM_001042492.3(NF1):c.8408C>T (p.Pro2803Leu)
|
rs2151601322
|
|
NM_001042492.3(NF1):c.8412C>T (p.Thr2804=)
|
rs1555538531
|
|
NM_001042492.3(NF1):c.8420A>G (p.His2807Arg)
|
rs2070695954
|
|
NM_001042492.3(NF1):c.8420A>T (p.His2807Leu)
|
rs2070695954
|
|
NM_001042492.3(NF1):c.8421C>A (p.His2807Gln)
|
rs1326795798
|
|
NM_001042492.3(NF1):c.8421C>G (p.His2807Gln)
|
|
|
NM_001042492.3(NF1):c.8422T>C (p.Cys2808Arg)
|
rs1597883056
|
|
NM_001042492.3(NF1):c.8422_8427del (p.Cys2808_Asn2809del)
|
rs2070696010
|
|
NM_001042492.3(NF1):c.8423G>A (p.Cys2808Tyr)
|
|
|
NM_001042492.3(NF1):c.8423G>T (p.Cys2808Phe)
|
|
|
NM_001042492.3(NF1):c.8423_8424delinsTC (p.Cys2808Phe)
|
|
|
NM_001042492.3(NF1):c.8428A>G (p.Ser2810Gly)
|
rs1597883071
|
|
NM_001042492.3(NF1):c.8429G>A (p.Ser2810Asn)
|
|
|
NM_001042492.3(NF1):c.8434C>T (p.Arg2812Ter)
|
|
|
NM_001042492.3(NF1):c.8437A>T (p.Thr2813Ser)
|
rs1597883075
|
|
NM_001042492.3(NF1):c.8438C>G (p.Thr2813Ser)
|
rs2070696371
|
|
NM_001042492.3(NF1):c.8438C>T (p.Thr2813Ile)
|
|
|
NM_001042492.3(NF1):c.8440C>T (p.Arg2814Cys)
|
rs876658139
|
|
NM_001042492.3(NF1):c.8443C>T (p.His2815Tyr)
|
rs2070696484
|
|
NM_001042492.3(NF1):c.8444A>C (p.His2815Pro)
|
|
|
NM_001042492.3(NF1):c.8445C>A (p.His2815Gln)
|
rs1597883082
|
|
NM_001042492.3(NF1):c.8448A>G (p.Gly2816=)
|
rs2070696565
|
|
NM_001042492.3(NF1):c.8450C>T (p.Ser2817Phe)
|
rs1048863798
|
|
NM_001042492.3(NF1):c.8452G>A (p.Ala2818Thr)
|
rs771006452
|
|
NM_001042492.3(NF1):c.8452G>T (p.Ala2818Ser)
|
rs771006452
|
|
NM_001042492.3(NF1):c.8458C>G (p.Gln2820Glu)
|
rs2151601501
|
|
NM_001042492.3(NF1):c.8461G>A (p.Val2821Met)
|
rs1567634549
|
|
NM_001042492.3(NF1):c.8465A>G (p.Gln2822Arg)
|
|
|
NM_001042492.3(NF1):c.8465A>T (p.Gln2822Leu)
|
|
|
NM_001042492.3(NF1):c.8467A>G (p.Lys2823Glu)
|
rs2151601529
|
|
NM_001042492.3(NF1):c.8469G>A (p.Lys2823=)
|
rs1203883572
|
|
NM_001042492.3(NF1):c.8469G>T (p.Lys2823Asn)
|
rs1203883572
|
|
NM_001042492.3(NF1):c.8471A>C (p.Gln2824Pro)
|
|
|
NM_001042492.3(NF1):c.8471A>G (p.Gln2824Arg)
|
|
|
NM_001042492.3(NF1):c.8472A>C (p.Gln2824His)
|
|
|
NM_001042492.3(NF1):c.8475A>C (p.Arg2825Ser)
|
|
|
NM_001042492.3(NF1):c.8477G>C (p.Ser2826Thr)
|
rs1057523477
|
|
NM_001042492.3(NF1):c.8477G>T (p.Ser2826Ile)
|
|
|
NM_001042492.3(NF1):c.8479G>A (p.Ala2827Thr)
|
rs199878086
|
|
NM_001042492.3(NF1):c.847G>A (p.Asp283Asn)
|
rs200572531
|
|
NM_001042492.3(NF1):c.847G>C (p.Asp283His)
|
|
|
NM_001042492.3(NF1):c.8482G>A (p.Gly2828Ser)
|
rs2070697456
|
|
NM_001042492.3(NF1):c.8485A>G (p.Ser2829Gly)
|
|
|
NM_001042492.3(NF1):c.8486G>A (p.Ser2829Asn)
|
|
|
NM_001042492.3(NF1):c.8489_8493del (p.Phe2830fs)
|
|
|
NM_001042492.3(NF1):c.848A>G (p.Asp283Gly)
|
rs878853921
|
|
NM_001042492.3(NF1):c.8490C>G (p.Phe2830Leu)
|
rs760550772
|
|
NM_001042492.3(NF1):c.8494C>A (p.Arg2832Ser)
|
|
|
NM_001042492.3(NF1):c.8495G>T (p.Arg2832Leu)
|
|
|
NM_001042492.3(NF1):c.8497A>C (p.Asn2833His)
|
rs786202863
|
|
NM_001042492.3(NF1):c.8498A>G (p.Asn2833Ser)
|
rs1567634576
|
|
NM_001042492.3(NF1):c.8498dup (p.Asn2833fs)
|
|
|
NM_001042492.3(NF1):c.8499T>G (p.Asn2833Lys)
|
rs142636150
|
|
NM_001042492.3(NF1):c.8500A>C (p.Ser2834Arg)
|
|
|
NM_001042492.3(NF1):c.8501G>A (p.Ser2834Asn)
|
|
|
NM_001042492.3(NF1):c.8501G>C (p.Ser2834Thr)
|
|
|
NM_001042492.3(NF1):c.8501G>T (p.Ser2834Ile)
|
rs2151601621
|
|
NM_001042492.3(NF1):c.8502C>G (p.Ser2834Arg)
|
|
|
NM_001042492.3(NF1):c.8503A>C (p.Ile2835Leu)
|
|
|
NM_001042492.3(NF1):c.8503A>G (p.Ile2835Val)
|
rs2151601629
|
|
NM_001042492.3(NF1):c.8507AGA[1] (p.Lys2837del)
|
rs1555538565
|
|
NM_001042492.3(NF1):c.8509A>C (p.Lys2837Gln)
|
rs2070698110
|
|
NM_001042492.3(NF1):c.8511G>T (p.Lys2837Asn)
|
|
|
NM_001042492.3(NF1):c.8512A>T (p.Ile2838Phe)
|
|
|
NM_001042492.3(NF1):c.8514C>G (p.Ile2838Met)
|
rs1567634589
|
|
NM_001042492.3(NF1):c.8515G>C (p.Val2839Leu)
|
rs368149035
|
|
NM_001042492.3(NF1):c.8515G>T (p.Val2839Leu)
|
rs368149035
|
|
NM_001042492.3(NF1):c.8516T>C (p.Val2839Ala)
|
rs2151601671
|
|
NM_001042492.3(NF1):c.851T>C (p.Ile284Thr)
|
rs2066158910
|
|
NM_001042492.3(NF1):c.852A>G (p.Ile284Met)
|
rs1567826762
|
|
NM_001042492.3(NF1):c.854C>T (p.Ser285Phe)
|
rs2066159067
|
|
NM_001042492.3(NF1):c.861C>A (p.Asp287Glu)
|
|
|
NM_001042492.3(NF1):c.862G>C (p.Val288Leu)
|
|
|
NM_001042492.3(NF1):c.865G>A (p.Val289Ile)
|
rs1326607708
|
|
NM_001042492.3(NF1):c.866T>C (p.Val289Ala)
|
rs749251299
|
|
NM_001042492.3(NF1):c.868G>A (p.Asp290Asn)
|
rs1597660081
|
|
NM_001042492.3(NF1):c.86A>G (p.Asn29Ser)
|
|
|
NM_001042492.3(NF1):c.871G>A (p.Glu291Lys)
|
rs2143786875
|
|
NM_001042492.3(NF1):c.872A>C (p.Glu291Ala)
|
rs876660171
|
|
NM_001042492.3(NF1):c.875A>C (p.Asn292Thr)
|
rs2143786939
|
|
NM_001042492.3(NF1):c.875A>G (p.Asn292Ser)
|
|
|
NM_001042492.3(NF1):c.877A>G (p.Asn293Asp)
|
rs2143786964
|
|
NM_001042492.3(NF1):c.87C>A (p.Asn29Lys)
|
|
|
NM_001042492.3(NF1):c.880A>G (p.Met294Val)
|
rs1597660112
|
|
NM_001042492.3(NF1):c.884A>G (p.Asn295Ser)
|
rs1555608994
|
|
NM_001042492.3(NF1):c.885T>A (p.Asn295Lys)
|
rs864622300
|
|
NM_001042492.3(NF1):c.886A>G (p.Lys296Glu)
|
|
|
NM_001042492.3(NF1):c.886A>T (p.Lys296Ter)
|
rs1135402798
|
|
NM_001042492.3(NF1):c.888+2T>C
|
rs2066160116
|
|
NM_001042492.3(NF1):c.888+652G>A
|
|
|
NM_001042492.3(NF1):c.888+6G>A
|
rs1555609000
|
|
NM_001042492.3(NF1):c.888+744A>G
|
rs1597660915
|
|
NM_001042492.3(NF1):c.888+789A>G
|
rs1597660974
|
|
NM_001042492.3(NF1):c.888G>A (p.Lys296=)
|
rs1597660134
|
|
NM_001042492.3(NF1):c.889-11_889-6delinsAAATT
|
rs2143871690
|
|
NM_001042492.3(NF1):c.889-18T>G
|
|
|
NM_001042492.3(NF1):c.889-21C>A
|
rs753797445
|
|
NM_001042492.3(NF1):c.889-2A>G
|
rs878853922
|
|
NM_001042492.3(NF1):c.889-458T>C
|
rs2143869041
|
|
NM_001042492.3(NF1):c.889-5del
|
rs1555610837
|
|
NM_001042492.3(NF1):c.889-6C>G
|
|
|
NM_001042492.3(NF1):c.889-8T>G
|
rs1452485831
|
|
NM_001042492.3(NF1):c.889-9A>G
|
|
|
NM_001042492.3(NF1):c.889A>C (p.Lys297Gln)
|
rs786202384
|
|
NM_001042492.3(NF1):c.88A>C (p.Thr30Pro)
|
rs1555604881
|
|
NM_001042492.3(NF1):c.88A>G (p.Thr30Ala)
|
|
|
NM_001042492.3(NF1):c.893T>C (p.Leu298Ser)
|
|
|
NM_001042492.3(NF1):c.894A>C (p.Leu298Phe)
|
|
|
NM_001042492.3(NF1):c.894A>T (p.Leu298Phe)
|
|
|
NM_001042492.3(NF1):c.895T>C (p.Phe299Leu)
|
rs2143872037
|
|
NM_001042492.3(NF1):c.899T>C (p.Leu300Pro)
|
rs2066505649
|
|
NM_001042492.3(NF1):c.901G>A (p.Asp301Asn)
|
rs2066505718
|
|
NM_001042492.3(NF1):c.901G>C (p.Asp301His)
|
|
|
NM_001042492.3(NF1):c.902A>T (p.Asp301Val)
|
|
|
NM_001042492.3(NF1):c.903C>G (p.Asp301Glu)
|
|
|
NM_001042492.3(NF1):c.905G>A (p.Ser302Asn)
|
rs786202746
|
|
NM_001042492.3(NF1):c.907C>G (p.Leu303Val)
|
rs1555610847
|
|
NM_001042492.3(NF1):c.908T>C (p.Leu303Pro)
|
|
|
NM_001042492.3(NF1):c.910C>G (p.Arg304Gly)
|
rs786203950
|
|
NM_001042492.3(NF1):c.911G>T (p.Arg304Leu)
|
rs76015786
|
|
NM_001042492.3(NF1):c.913A>G (p.Lys305Glu)
|
rs1567835041
|
|
NM_001042492.3(NF1):c.917C>T (p.Ala306Val)
|
rs1597680783
|
|
NM_001042492.3(NF1):c.919C>T (p.Leu307Phe)
|
|
|
NM_001042492.3(NF1):c.91C>G (p.His31Asp)
|
rs786202864
|
|
NM_001042492.3(NF1):c.922_923delinsTT (p.Ala308Phe)
|
rs1597680797
|
|
NM_001042492.3(NF1):c.923C>G (p.Ala308Gly)
|
rs876660836
|
|
NM_001042492.3(NF1):c.923C>T (p.Ala308Val)
|
|
|
NM_001042492.3(NF1):c.925G>A (p.Gly309Ser)
|
|
|
NM_001042492.3(NF1):c.925_926delinsAT (p.Gly309Ile)
|
|
|
NM_001042492.3(NF1):c.926G>A (p.Gly309Asp)
|
rs1555610862
|
|
NM_001042492.3(NF1):c.926G>T (p.Gly309Val)
|
|
|
NM_001042492.3(NF1):c.928C>T (p.His310Tyr)
|
rs1597680837
|
|
NM_001042492.3(NF1):c.929A>G (p.His310Arg)
|
|
|
NM_001042492.3(NF1):c.92A>C (p.His31Pro)
|
|
|
NM_001042492.3(NF1):c.92A>G (p.His31Arg)
|
rs199474725
|
|
NM_001042492.3(NF1):c.930T>A (p.His310Gln)
|
rs1555610865
|
|
NM_001042492.3(NF1):c.930T>G (p.His310Gln)
|
rs1555610865
|
|
NM_001042492.3(NF1):c.935G>A (p.Gly312Glu)
|
rs1555610868
|
|
NM_001042492.3(NF1):c.935G>T (p.Gly312Val)
|
rs1555610868
|
|
NM_001042492.3(NF1):c.936A>G (p.Gly312=)
|
|
|
NM_001042492.3(NF1):c.937A>G (p.Ser313Gly)
|
rs373320953
|
|
NM_001042492.3(NF1):c.938G>C (p.Ser313Thr)
|
rs2066506773
|
|
NM_001042492.3(NF1):c.938G>T (p.Ser313Ile)
|
|
|
NM_001042492.3(NF1):c.93T>A (p.His31Gln)
|
rs2143625630
|
|
NM_001042492.3(NF1):c.940A>G (p.Arg314Gly)
|
|
|
NM_001042492.3(NF1):c.945G>C (p.Gln315His)
|
|
|
NM_001042492.3(NF1):c.94A>G (p.Thr32Ala)
|
|
|
NM_001042492.3(NF1):c.950C>T (p.Thr317Ile)
|
|
|
NM_001042492.3(NF1):c.955A>G (p.Ser319Gly)
|
|
|
NM_001042492.3(NF1):c.958G>C (p.Ala320Pro)
|
rs2066507272
|
|
NM_001042492.3(NF1):c.958_959delinsTT (p.Ala320Phe)
|
|
|
NM_001042492.3(NF1):c.959C>A (p.Ala320Asp)
|
rs1555610884
|
|
NM_001042492.3(NF1):c.95C>A (p.Thr32Asn)
|
rs2065655236
|
|
NM_001042492.3(NF1):c.961G>C (p.Ala321Pro)
|
rs2066507408
|
|
NM_001042492.3(NF1):c.962C>T (p.Ala321Val)
|
rs2143873023
|
|
NM_001042492.3(NF1):c.965T>C (p.Ile322Thr)
|
rs1417994243
|
|
NM_001042492.3(NF1):c.967G>A (p.Ala323Thr)
|
rs2143873082
|
|
NM_001042492.3(NF1):c.971G>T (p.Cys324Phe)
|
|
|
NM_001042492.3(NF1):c.974T>G (p.Val325Gly)
|
rs1422095982
|
|
NM_001042492.3(NF1):c.976A>G (p.Lys326Glu)
|
rs1597680956
|
|
NM_001042492.3(NF1):c.977A>G (p.Lys326Arg)
|
rs2066507912
|
|
NM_001042492.3(NF1):c.978_980del (p.Leu327del)
|
rs2066507983
|
|
NM_001042492.3(NF1):c.97A>G (p.Lys33Glu)
|
rs1060500324
|
|
NM_001042492.3(NF1):c.980T>A (p.Leu327Gln)
|
|
|
NM_001042492.3(NF1):c.980T>C (p.Leu327Pro)
|
rs201624827
|
|
NM_001042492.3(NF1):c.983G>A (p.Cys328Tyr)
|
rs2143873368
|
|
NM_001042492.3(NF1):c.984T>G (p.Cys328Trp)
|
|
|
NM_001042492.3(NF1):c.986A>G (p.Lys329Arg)
|
rs1555610894
|
|
NM_001042492.3(NF1):c.987A>G (p.Lys329=)
|
rs2066508210
|
|
NM_001042492.3(NF1):c.988G>C (p.Ala330Pro)
|
rs199474767
|
|
NM_001042492.3(NF1):c.989C>A (p.Ala330Glu)
|
rs1555610898
|
|
NM_001042492.3(NF1):c.98A>G (p.Lys33Arg)
|
rs1555604887
|
|
NM_001042492.3(NF1):c.992G>A (p.Ser331Asn)
|
rs1555610899
|
|
NM_001042492.3(NF1):c.992G>C (p.Ser331Thr)
|
rs1555610899
|
|
NM_001042492.3(NF1):c.996T>G (p.Thr332=)
|
|
|
NM_001042492.3(NF1):c.997T>C (p.Tyr333His)
|
rs2066508508
|
|
NM_001042492.3(NF1):c.99A>G (p.Lys33=)
|
rs786203280
|
|