NM_006767.4(LZTR1):c.1785+21A>G
|
rs178292
|
0.80067
|
NM_006767.4(LZTR1):c.994-18T>C
|
rs112544
|
0.71870
|
NM_001042492.3(NF1):c.702G>A (p.Leu234=)
|
rs1801052
|
0.56607
|
NM_001042492.3(NF1):c.2034G>A (p.Pro678=)
|
rs2285892
|
0.42930
|
NM_006767.4(LZTR1):c.210G>A (p.Lys70=)
|
rs13054014
|
0.26457
|
NM_006767.4(LZTR1):c.1683C>T (p.Arg561=)
|
rs4822790
|
0.14494
|
NM_006767.4(LZTR1):c.1962C>T (p.Asp654=)
|
rs1131176
|
0.03087
|
NM_001042492.3(NF1):c.2544G>A (p.Gly848=)
|
rs17883704
|
0.02535
|
NM_001042492.3(NF1):c.4882T>C (p.Leu1628=)
|
rs10512435
|
0.02270
|
NM_006767.4(LZTR1):c.2160C>T (p.Phe720=)
|
rs79640036
|
0.01999
|
NM_001042492.3(NF1):c.2851-16T>C
|
rs17880825
|
0.01543
|
NM_001042492.3(NF1):c.4929G>A (p.Val1643=)
|
rs17880521
|
0.01527
|
NM_006767.4(LZTR1):c.2253C>T (p.Phe751=)
|
rs143758478
|
0.01424
|
NM_001042492.3(NF1):c.168C>T (p.Ser56=)
|
rs17881168
|
0.01374
|
NM_001042492.3(NF1):c.7755C>T (p.Ser2585=)
|
rs17881980
|
0.01075
|
NM_006767.4(LZTR1):c.2219+13C>T
|
rs144005025
|
0.00972
|
NM_006767.4(LZTR1):c.1209C>T (p.Phe403=)
|
rs145833752
|
0.00550
|
NM_001042492.3(NF1):c.3198-3C>T
|
rs777759972
|
0.00502
|
NM_001042492.3(NF1):c.2985G>C (p.Leu995=)
|
rs17881467
|
0.00426
|
NM_001042492.3(NF1):c.3198-4T>C
|
rs587782218
|
0.00387
|
NM_006767.4(LZTR1):c.2007C>T (p.Ile669=)
|
rs138664443
|
0.00386
|
NM_001042492.3(NF1):c.4577+12C>T
|
rs17878332
|
0.00352
|
NM_001042492.3(NF1):c.5235G>A (p.Lys1745=)
|
rs17887014
|
0.00305
|
NM_006767.4(LZTR1):c.2373C>T (p.His791=)
|
rs148993324
|
0.00299
|
NM_006767.4(LZTR1):c.2187C>T (p.Tyr729=)
|
rs117346988
|
0.00222
|
NM_001042492.3(NF1):c.1994C>T (p.Ser665Phe)
|
rs145891889
|
0.00220
|
NM_006767.4(LZTR1):c.401-26G>A
|
rs72617209
|
0.00205
|
NM_001042492.3(NF1):c.7531G>C (p.Val2511Leu)
|
rs2230850
|
0.00189
|
NM_006767.4(LZTR1):c.741C>T (p.Ser247=)
|
rs114458679
|
0.00183
|
NM_006767.4(LZTR1):c.1530C>T (p.His510=)
|
rs190714197
|
0.00155
|
NM_001042492.3(NF1):c.846G>A (p.Gln282=)
|
rs138840528
|
0.00149
|
NM_001042492.3(NF1):c.4577+11C>G
|
rs190614908
|
0.00124
|
NM_001042492.3(NF1):c.1810T>C (p.Leu604=)
|
rs142712751
|
0.00123
|
NM_006767.4(LZTR1):c.666C>T (p.Gly222=)
|
rs35767542
|
0.00122
|
NM_006767.4(LZTR1):c.1395G>A (p.Ala465=)
|
rs142418387
|
0.00108
|
NM_006767.4(LZTR1):c.1719C>T (p.Ser573=)
|
rs150897932
|
0.00097
|
NM_006767.4(LZTR1):c.906G>A (p.Ala302=)
|
rs143128466
|
0.00090
|
NM_001042492.3(NF1):c.3867C>T (p.Phe1289=)
|
rs138186428
|
0.00089
|
NM_001042492.3(NF1):c.8114-70A>T
|
rs192112633
|
0.00088
|
NM_006767.4(LZTR1):c.1904C>T (p.Pro635Leu)
|
rs148677674
|
0.00077
|
NM_006767.4(LZTR1):c.1990G>A (p.Ala664Thr)
|
rs140874089
|
0.00072
|
NM_006767.4(LZTR1):c.453C>T (p.Asp151=)
|
rs142421078
|
0.00069
|
NM_001042492.3(NF1):c.7595C>T (p.Ala2532Val)
|
rs148154172
|
0.00066
|
NM_001042492.3(NF1):c.3198-3dup
|
rs1555614816
|
0.00063
|
NM_006767.4(LZTR1):c.543G>A (p.Thr181=)
|
rs151294009
|
0.00063
|
NM_006767.4(LZTR1):c.1723G>A (p.Asp575Asn)
|
rs139368531
|
0.00061
|
NM_001042492.3(NF1):c.2033C>T (p.Pro678Leu)
|
rs17881753
|
0.00058
|
NM_001042492.3(NF1):c.6147+11T>C
|
rs201275748
|
0.00058
|
NM_001042492.3(NF1):c.6379A>G (p.Ile2127Val)
|
rs200022550
|
0.00053
|
NM_006767.4(LZTR1):c.2316C>T (p.Asn772=)
|
rs140327903
|
0.00047
|
NM_006767.4(LZTR1):c.1531G>A (p.Val511Met)
|
rs200062851
|
0.00046
|
NM_006767.4(LZTR1):c.2022C>T (p.Asp674=)
|
rs145303406
|
0.00044
|
NM_006767.4(LZTR1):c.855C>T (p.Tyr285=)
|
rs140612093
|
0.00043
|
NM_006767.4(LZTR1):c.1164G>A (p.Arg388=)
|
rs200801199
|
0.00040
|
NM_006767.4(LZTR1):c.2208C>T (p.Pro736=)
|
rs140879560
|
0.00039
|
NM_006767.4(LZTR1):c.2511C>T (p.Gly837=)
|
rs202072955
|
0.00036
|
NM_006767.4(LZTR1):c.2190C>T (p.Gly730=)
|
rs144092577
|
0.00034
|
NM_001042492.3(NF1):c.8041A>G (p.Ile2681Val)
|
rs146315101
|
0.00031
|
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_006767.4(LZTR1):c.1939A>G (p.Ile647Val)
|
rs148916790
|
0.00025
|
NM_006767.4(LZTR1):c.1333G>A (p.Val445Met)
|
rs201070853
|
0.00024
|
NM_001042492.3(NF1):c.1062+113A>G
|
rs868553650
|
0.00021
|
NM_006767.4(LZTR1):c.1412G>A (p.Arg471His)
|
rs139031749
|
0.00021
|
NM_006767.4(LZTR1):c.2301C>T (p.Asn767=)
|
rs112615858
|
0.00021
|
NM_006767.4(LZTR1):c.678A>T (p.Pro226=)
|
rs200001328
|
0.00021
|
NM_001042492.3(NF1):c.8499T>C (p.Asn2833=)
|
rs142636150
|
0.00020
|
NM_006767.4(LZTR1):c.-4C>T
|
rs573275770
|
0.00019
|
NM_006767.4(LZTR1):c.1407G>A (p.Trp469Ter)
|
rs777243508
|
0.00019
|
NM_001042492.3(NF1):c.6172A>G (p.Ile2058Val)
|
rs201712827
|
0.00017
|
NM_006767.4(LZTR1):c.264-13G>A
|
rs587777176
|
0.00017
|
NM_006767.4(LZTR1):c.1329C>T (p.Cys443=)
|
rs145473401
|
0.00016
|
NM_006767.4(LZTR1):c.1517C>T (p.Pro506Leu)
|
rs763950976
|
0.00016
|
NM_006767.4(LZTR1):c.2058C>T (p.Ala686=)
|
rs201272562
|
0.00016
|
NM_006767.4(LZTR1):c.945C>T (p.Asp315=)
|
rs559942119
|
0.00016
|
NM_001042492.3(NF1):c.107C>G (p.Thr36Ser)
|
rs199966218
|
0.00015
|
NM_001042492.3(NF1):c.3436G>A (p.Val1146Ile)
|
rs201047812
|
0.00015
|
NM_001042492.3(NF1):c.6929C>T (p.Pro2310Leu)
|
rs148736217
|
0.00015
|
NM_006767.4(LZTR1):c.1194C>T (p.Asp398=)
|
rs557960320
|
0.00015
|
NM_006767.4(LZTR1):c.54C>G (p.Gly18=)
|
rs371007598
|
0.00015
|
NM_006767.4(LZTR1):c.594-3C>T
|
rs373968693
|
0.00015
|
NM_006767.4(LZTR1):c.96T>C (p.His32=)
|
rs372440263
|
0.00015
|
NM_001042492.3(NF1):c.3871-15C>T
|
rs200104394
|
0.00014
|
NM_001042492.3(NF1):c.7368A>G (p.Lys2456=)
|
rs201287021
|
0.00014
|
NM_006767.4(LZTR1):c.488C>T (p.Thr163Met)
|
rs200806641
|
0.00014
|
NM_001042492.3(NF1):c.2032C>G (p.Pro678Ala)
|
rs758691069
|
0.00013
|
NM_001042492.3(NF1):c.2191C>T (p.Leu731Phe)
|
rs185204667
|
0.00012
|
NM_006767.4(LZTR1):c.1449+3G>A
|
rs369605093
|
0.00012
|
NM_006767.4(LZTR1):c.1563C>T (p.Phe521=)
|
rs145974096
|
0.00012
|
NM_006767.4(LZTR1):c.351C>T (p.Pro117=)
|
rs202066345
|
0.00012
|
NM_001042492.3(NF1):c.7354C>T (p.Arg2452Cys)
|
rs377662483
|
0.00011
|
NM_006767.4(LZTR1):c.2205G>A (p.Pro735=)
|
rs368690209
|
0.00011
|
NM_006767.4(LZTR1):c.2448G>A (p.Leu816=)
|
rs760496619
|
0.00010
|
NM_006767.4(LZTR1):c.410C>A (p.Thr137Asn)
|
rs146627447
|
0.00010
|
NM_006767.4(LZTR1):c.628C>T (p.Arg210Ter)
|
rs150419186
|
0.00010
|
NM_001042492.3(NF1):c.4836-3T>C
|
rs372460369
|
0.00009
|
NM_001042492.3(NF1):c.5513C>G (p.Ser1838Cys)
|
rs368654378
|
0.00009
|
NM_006767.4(LZTR1):c.1377C>T (p.His459=)
|
rs752985853
|
0.00009
|
NM_006767.4(LZTR1):c.1943-256C>T
|
rs761685529
|
0.00009
|
NM_006767.4(LZTR1):c.2130C>T (p.Ile710=)
|
rs149449207
|
0.00009
|
NM_006767.4(LZTR1):c.2428C>T (p.Arg810Trp)
|
rs776893978
|
0.00009
|
NM_006767.4(LZTR1):c.366G>A (p.Ser122=)
|
rs367767120
|
0.00009
|
NM_001042492.3(NF1):c.5497C>T (p.Leu1833=)
|
rs372932380
|
0.00008
|
NM_001042492.3(NF1):c.8105A>T (p.Tyr2702Phe)
|
rs201824349
|
0.00008
|
NM_006767.4(LZTR1):c.1303C>T (p.Arg435Trp)
|
rs369722558
|
0.00008
|
NM_006767.4(LZTR1):c.1548C>T (p.Ala516=)
|
rs545065457
|
0.00008
|
NM_006767.4(LZTR1):c.1711G>A (p.Glu571Lys)
|
rs5761750
|
0.00008
|
NM_006767.4(LZTR1):c.1855C>T (p.Arg619Cys)
|
rs373488966
|
0.00008
|
NM_006767.4(LZTR1):c.2023G>A (p.Gly675Arg)
|
rs369362070
|
0.00008
|
NM_006767.4(LZTR1):c.369C>T (p.Ala123=)
|
rs773126123
|
0.00008
|
NM_006767.4(LZTR1):c.888C>G (p.Leu296=)
|
rs772839774
|
0.00008
|
NM_001042492.3(NF1):c.1392+5G>T
|
rs199999754
|
0.00007
|
NM_001042492.3(NF1):c.4943C>T (p.Thr1648Ile)
|
rs376655102
|
0.00007
|
NM_006767.4(LZTR1):c.1084C>T (p.Arg362Ter)
|
rs189150283
|
0.00007
|
NM_006767.4(LZTR1):c.2499C>T (p.Cys833=)
|
rs746037698
|
0.00007
|
NM_006767.4(LZTR1):c.373G>A (p.Val125Ile)
|
rs775434314
|
0.00007
|
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.4526G>A (p.Arg1509His)
|
rs546073780
|
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.8395G>A (p.Val2799Ile)
|
rs377393842
|
0.00006
|
NM_006767.4(LZTR1):c.1055A>C (p.Tyr352Ser)
|
rs368649599
|
0.00006
|
NM_006767.4(LZTR1):c.1354A>G (p.Lys452Glu)
|
rs200296313
|
0.00006
|
NM_006767.4(LZTR1):c.1396C>T (p.Arg466Trp)
|
rs550922200
|
0.00006
|
NM_006767.4(LZTR1):c.1397G>A (p.Arg466Gln)
|
rs587777180
|
0.00006
|
NM_006767.4(LZTR1):c.1424C>T (p.Thr475Met)
|
rs376046310
|
0.00006
|
NM_006767.4(LZTR1):c.1498G>C (p.Ala500Pro)
|
rs377075596
|
0.00006
|
NM_006767.4(LZTR1):c.1616-5C>T
|
rs201238759
|
0.00006
|
NM_006767.4(LZTR1):c.1852G>A (p.Glu618Lys)
|
rs766345180
|
0.00006
|
NM_006767.4(LZTR1):c.2062C>T (p.Arg688Cys)
|
rs587777178
|
0.00006
|
NM_006767.4(LZTR1):c.2089C>T (p.Arg697Trp)
|
rs751516987
|
0.00006
|
NM_006767.4(LZTR1):c.21G>A (p.Thr7=)
|
rs377622689
|
0.00006
|
NM_006767.4(LZTR1):c.2232G>A (p.Ala744=)
|
rs139261473
|
0.00006
|
NM_006767.4(LZTR1):c.2429G>A (p.Arg810Gln)
|
rs200195452
|
0.00006
|
NM_006767.4(LZTR1):c.372C>T (p.Val124=)
|
rs371891909
|
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_006767.4(LZTR1):c.1018C>T (p.Arg340Ter)
|
rs149850248
|
0.00005
|
NM_006767.4(LZTR1):c.1299C>T (p.Tyr433=)
|
rs148969689
|
0.00005
|
NM_006767.4(LZTR1):c.1354-4G>A
|
rs747750987
|
0.00005
|
NM_006767.4(LZTR1):c.1416G>A (p.Arg472=)
|
rs367740343
|
0.00005
|
NM_006767.4(LZTR1):c.1555C>T (p.Arg519Trp)
|
rs565364639
|
0.00005
|
NM_006767.4(LZTR1):c.2131G>A (p.Gly711Arg)
|
rs777021795
|
0.00005
|
NM_006767.4(LZTR1):c.2260A>C (p.Asn754His)
|
rs745755957
|
0.00005
|
NM_006767.4(LZTR1):c.2271G>A (p.Gln757=)
|
rs761430270
|
0.00005
|
NM_006767.4(LZTR1):c.2387T>C (p.Ile796Thr)
|
rs141672122
|
0.00005
|
NM_006767.4(LZTR1):c.2514C>T (p.Ala838=)
|
rs772037780
|
0.00005
|
NM_006767.4(LZTR1):c.710G>A (p.Arg237Gln)
|
rs773696598
|
0.00005
|
NM_006767.4(LZTR1):c.988A>G (p.Ser330Gly)
|
rs777443417
|
0.00005
|
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.3114-4A>G
|
rs201550230
|
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.3883A>G (p.Thr1295Ala)
|
rs143836226
|
0.00004
|
NM_001042492.3(NF1):c.3947A>G (p.His1316Arg)
|
rs751023085
|
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.6428-3C>T
|
rs374014162
|
0.00004
|
NM_001042492.3(NF1):c.6600A>C (p.Thr2200=)
|
rs747576584
|
0.00004
|
NM_001042492.3(NF1):c.6664A>G (p.Thr2222Ala)
|
rs745945481
|
0.00004
|
NM_001042492.3(NF1):c.6750T>C (p.Val2250=)
|
rs762075320
|
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_006767.4(LZTR1):c.1019G>A (p.Arg340Gln)
|
rs368589786
|
0.00004
|
NM_006767.4(LZTR1):c.1183G>A (p.Val395Ile)
|
rs373591504
|
0.00004
|
NM_006767.4(LZTR1):c.1195G>A (p.Ala399Thr)
|
rs778238285
|
0.00004
|
NM_006767.4(LZTR1):c.1318C>T (p.Arg440Cys)
|
rs776696572
|
0.00004
|
NM_006767.4(LZTR1):c.1394C>T (p.Ala465Val)
|
rs753757778
|
0.00004
|
NM_006767.4(LZTR1):c.1403G>A (p.Arg468His)
|
rs146427018
|
0.00004
|
NM_006767.4(LZTR1):c.1433G>A (p.Arg478Gln)
|
rs138036477
|
0.00004
|
NM_006767.4(LZTR1):c.1514G>A (p.Arg505Gln)
|
rs201773172
|
0.00004
|
NM_006767.4(LZTR1):c.1615+5G>A
|
rs758783465
|
0.00004
|
NM_006767.4(LZTR1):c.1710C>T (p.Ile570=)
|
rs779730131
|
0.00004
|
NM_006767.4(LZTR1):c.1768C>T (p.Gln590Ter)
|
rs754685052
|
0.00004
|
NM_006767.4(LZTR1):c.1942+3A>G
|
rs763690028
|
0.00004
|
NM_006767.4(LZTR1):c.1943-1G>A
|
rs1189015572
|
0.00004
|
NM_006767.4(LZTR1):c.1943-4C>G
|
rs368391573
|
0.00004
|
NM_006767.4(LZTR1):c.1978G>A (p.Glu660Lys)
|
rs151000791
|
0.00004
|
NM_006767.4(LZTR1):c.2032C>T (p.Arg678Trp)
|
rs780217270
|
0.00004
|
NM_006767.4(LZTR1):c.2247C>T (p.Tyr749=)
|
rs779077819
|
0.00004
|
NM_006767.4(LZTR1):c.2274G>A (p.Ala758=)
|
rs144870586
|
0.00004
|
NM_006767.4(LZTR1):c.2306C>T (p.Thr769Met)
|
rs531211534
|
0.00004
|
NM_006767.4(LZTR1):c.2317G>A (p.Val773Met)
|
rs199586863
|
0.00004
|
NM_006767.4(LZTR1):c.2355A>G (p.Ala785=)
|
rs751681487
|
0.00004
|
NM_006767.4(LZTR1):c.23G>C (p.Gly8Ala)
|
rs764439278
|
0.00004
|
NM_006767.4(LZTR1):c.824G>A (p.Arg275Gln)
|
rs778001313
|
0.00004
|
NM_006767.4(LZTR1):c.946G>A (p.Val316Met)
|
rs370315661
|
0.00004
|
NM_006767.4(LZTR1):c.970G>A (p.Val324Ile)
|
rs140013693
|
0.00004
|
NM_006767.4(LZTR1):c.981C>G (p.Ser327Arg)
|
rs778587887
|
0.00004
|
NM_001042492.3(NF1):c.100G>A (p.Val34Ile)
|
rs772995929
|
0.00003
|
NM_001042492.3(NF1):c.1296G>A (p.Val432=)
|
rs371599283
|
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.2916A>C (p.Leu972=)
|
rs1210119104
|
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.5553T>C (p.Pro1851=)
|
rs974310759
|
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.6696A>C (p.Leu2232=)
|
rs1265616273
|
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.7185A>G (p.Leu2395=)
|
rs1172296616
|
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_006767.4(LZTR1):c.1332C>T (p.Asp444=)
|
rs373226374
|
0.00003
|
NM_006767.4(LZTR1):c.1385T>C (p.Ile462Thr)
|
rs147684991
|
0.00003
|
NM_006767.4(LZTR1):c.138G>A (p.Gly46=)
|
rs977844214
|
0.00003
|
NM_006767.4(LZTR1):c.1402C>T (p.Arg468Cys)
|
rs374741798
|
0.00003
|
NM_006767.4(LZTR1):c.1491C>T (p.Pro497=)
|
rs749713272
|
0.00003
|
NM_006767.4(LZTR1):c.1549G>A (p.Glu517Lys)
|
rs748528782
|
0.00003
|
NM_006767.4(LZTR1):c.1556G>A (p.Arg519Gln)
|
rs149502567
|
0.00003
|
NM_006767.4(LZTR1):c.1591G>A (p.Asp531Asn)
|
rs138615487
|
0.00003
|
NM_006767.4(LZTR1):c.1610G>A (p.Arg537Gln)
|
rs769150226
|
0.00003
|
NM_006767.4(LZTR1):c.1623G>A (p.Val541=)
|
rs780972940
|
0.00003
|
NM_006767.4(LZTR1):c.1758C>T (p.Ala586=)
|
rs764325793
|
0.00003
|
NM_006767.4(LZTR1):c.1806G>A (p.Val602=)
|
rs1157548960
|
0.00003
|
NM_006767.4(LZTR1):c.1851C>T (p.Phe617=)
|
rs761878206
|
0.00003
|
NM_006767.4(LZTR1):c.2394C>T (p.His798=)
|
rs770445427
|
0.00003
|
NM_006767.4(LZTR1):c.2401A>C (p.Thr801Pro)
|
rs1215965010
|
0.00003
|
NM_006767.4(LZTR1):c.27G>A (p.Gly9=)
|
rs750714248
|
0.00003
|
NM_006767.4(LZTR1):c.387C>T (p.Ser129=)
|
rs368158143
|
0.00003
|
NM_006767.4(LZTR1):c.489G>A (p.Thr163=)
|
rs549102364
|
0.00003
|
NM_006767.4(LZTR1):c.506G>A (p.Gly169Glu)
|
rs751873839
|
0.00003
|
NM_006767.4(LZTR1):c.508C>T (p.Arg170Trp)
|
rs757502214
|
0.00003
|
NM_006767.4(LZTR1):c.667G>A (p.Glu223Lys)
|
rs369204535
|
0.00003
|
NM_006767.4(LZTR1):c.788A>G (p.Lys263Arg)
|
rs144573377
|
0.00003
|
NM_006767.4(LZTR1):c.823C>T (p.Arg275Trp)
|
rs758651123
|
0.00003
|
NM_006767.4(LZTR1):c.842C>T (p.Pro281Leu)
|
rs1390048261
|
0.00003
|
NM_006767.4(LZTR1):c.989G>T (p.Ser330Ile)
|
rs376331457
|
0.00003
|
NM_001042492.3(NF1):c.105T>C (p.Ser35=)
|
rs370026303
|
0.00002
|
NM_001042492.3(NF1):c.1134C>T (p.Asp378=)
|
rs781367679
|
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.1901T>C (p.Ile634Thr)
|
rs527563505
|
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.2224G>T (p.Ala742Ser)
|
rs587781896
|
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.2556C>T (p.Leu852=)
|
rs771308677
|
0.00002
|
NM_001042492.3(NF1):c.2617C>T (p.Arg873Cys)
|
rs199474739
|
0.00002
|
NM_001042492.3(NF1):c.264T>C (p.Asp88=)
|
rs1359209770
|
0.00002
|
NM_001042492.3(NF1):c.2819C>G (p.Thr940Ser)
|
rs368995630
|
0.00002
|
NM_001042492.3(NF1):c.3063A>C (p.Val1021=)
|
rs768611775
|
0.00002
|
NM_001042492.3(NF1):c.3345T>C (p.Asn1115=)
|
rs1443772199
|
0.00002
|
NM_001042492.3(NF1):c.3374C>T (p.Ala1125Val)
|
rs902739109
|
0.00002
|
NM_001042492.3(NF1):c.3441T>C (p.Leu1147=)
|
rs747330799
|
0.00002
|
NM_001042492.3(NF1):c.3678T>C (p.Ala1226=)
|
rs776473273
|
0.00002
|
NM_001042492.3(NF1):c.367A>G (p.Thr123Ala)
|
rs587781757
|
0.00002
|
NM_001042492.3(NF1):c.3684C>T (p.Ala1228=)
|
rs200276071
|
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.4286A>G (p.Lys1429Arg)
|
rs778056258
|
0.00002
|
NM_001042492.3(NF1):c.42C>T (p.Val14=)
|
rs755413799
|
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.4434T>C (p.Phe1478=)
|
rs1310523976
|
0.00002
|
NM_001042492.3(NF1):c.4632A>G (p.Ala1544=)
|
rs781741727
|
0.00002
|
NM_001042492.3(NF1):c.4657C>G (p.Pro1553Ala)
|
rs1033427343
|
0.00002
|
NM_001042492.3(NF1):c.4668T>C (p.Asp1556=)
|
rs763874870
|
0.00002
|
NM_001042492.3(NF1):c.48C>T (p.Arg16=)
|
rs1315327163
|
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.5955A>G (p.Glu1985=)
|
rs369043956
|
0.00002
|
NM_001042492.3(NF1):c.623C>T (p.Ala208Val)
|
rs758624540
|
0.00002
|
NM_001042492.3(NF1):c.6547C>A (p.Arg2183=)
|
rs760177417
|
0.00002
|
NM_001042492.3(NF1):c.6678G>A (p.Leu2226=)
|
rs959023829
|
0.00002
|
NM_001042492.3(NF1):c.6819+11C>T
|
rs201213225
|
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.7275T>C (p.Asn2425=)
|
rs1060503904
|
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.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_006767.4(LZTR1):c.1085G>A (p.Arg362Gln)
|
rs745476291
|
0.00002
|
NM_006767.4(LZTR1):c.1110C>T (p.Gly370=)
|
rs61742226
|
0.00002
|
NM_006767.4(LZTR1):c.1175C>T (p.Ala392Val)
|
rs767354230
|
0.00002
|
NM_006767.4(LZTR1):c.1230C>T (p.Asn410=)
|
rs778212001
|
0.00002
|
NM_006767.4(LZTR1):c.1360G>A (p.Glu454Lys)
|
rs771525633
|
0.00002
|
NM_006767.4(LZTR1):c.1384A>G (p.Ile462Val)
|
rs751597202
|
0.00002
|
NM_006767.4(LZTR1):c.1494C>T (p.Gly498=)
|
rs772242645
|
0.00002
|
NM_006767.4(LZTR1):c.1540C>T (p.Arg514Trp)
|
rs779673877
|
0.00002
|
NM_006767.4(LZTR1):c.1576C>T (p.Gln526Ter)
|
rs768530578
|
0.00002
|
NM_006767.4(LZTR1):c.1615+4C>T
|
rs551144605
|
0.00002
|
NM_006767.4(LZTR1):c.1678T>C (p.Cys560Arg)
|
rs754093586
|
0.00002
|
NM_006767.4(LZTR1):c.1749C>T (p.Cys583=)
|
rs758399311
|
0.00002
|
NM_006767.4(LZTR1):c.1759G>A (p.Ala587Thr)
|
rs1305693117
|
0.00002
|
NM_006767.4(LZTR1):c.1782C>T (p.Leu594=)
|
rs771464089
|
0.00002
|
NM_006767.4(LZTR1):c.1794C>A (p.Cys598Ter)
|
rs982944299
|
0.00002
|
NM_006767.4(LZTR1):c.1985C>T (p.Ala662Val)
|
rs200248773
|
0.00002
|
NM_006767.4(LZTR1):c.1991C>T (p.Ala664Val)
|
rs776112712
|
0.00002
|
NM_006767.4(LZTR1):c.2026C>A (p.His676Asn)
|
rs756293448
|
0.00002
|
NM_006767.4(LZTR1):c.2063G>A (p.Arg688His)
|
rs535779363
|
0.00002
|
NM_006767.4(LZTR1):c.2173C>T (p.Arg725Cys)
|
rs778626874
|
0.00002
|
NM_006767.4(LZTR1):c.2174G>A (p.Arg725His)
|
rs752191147
|
0.00002
|
NM_006767.4(LZTR1):c.2191G>A (p.Glu731Lys)
|
rs377445349
|
0.00002
|
NM_006767.4(LZTR1):c.2263C>T (p.Arg755Trp)
|
rs141161152
|
0.00002
|
NM_006767.4(LZTR1):c.2265G>T (p.Arg755=)
|
rs370009707
|
0.00002
|
NM_006767.4(LZTR1):c.2307G>A (p.Thr769=)
|
rs201831578
|
0.00002
|
NM_006767.4(LZTR1):c.2326-2A>G
|
rs1475060729
|
0.00002
|
NM_006767.4(LZTR1):c.2326-3C>T
|
rs375845428
|
0.00002
|
NM_006767.4(LZTR1):c.2368C>T (p.Arg790Trp)
|
rs767637944
|
0.00002
|
NM_006767.4(LZTR1):c.2463dup (p.Asp822fs)
|
rs781251567
|
0.00002
|
NM_006767.4(LZTR1):c.2496G>A (p.Gln832=)
|
rs1220437076
|
0.00002
|
NM_006767.4(LZTR1):c.344C>T (p.Pro115Leu)
|
rs756852884
|
0.00002
|
NM_006767.4(LZTR1):c.353G>A (p.Arg118His)
|
rs769001939
|
0.00002
|
NM_006767.4(LZTR1):c.582C>T (p.Asp194=)
|
rs753897372
|
0.00002
|
NM_006767.4(LZTR1):c.613A>G (p.Ile205Val)
|
rs1046322896
|
0.00002
|
NM_006767.4(LZTR1):c.635T>G (p.Leu212Arg)
|
rs138301732
|
0.00002
|
NM_006767.4(LZTR1):c.816C>T (p.His272=)
|
rs563695082
|
0.00002
|
NM_006767.4(LZTR1):c.843G>A (p.Pro281=)
|
rs779901332
|
0.00002
|
NM_006767.4(LZTR1):c.905C>T (p.Ala302Val)
|
rs765881289
|
0.00002
|
NM_006767.4(LZTR1):c.969C>T (p.Val323=)
|
rs749217623
|
0.00002
|
NM_006767.4(LZTR1):c.978C>T (p.Pro326=)
|
rs1170118415
|
0.00002
|
NM_006767.4(LZTR1):c.984C>T (p.Ser328=)
|
rs374054699
|
0.00002
|
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.1082G>C (p.Ser361Thr)
|
rs876660103
|
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.1156A>G (p.Ile386Val)
|
rs779930387
|
0.00001
|
NM_001042492.3(NF1):c.1170C>T (p.Asn390=)
|
rs769004910
|
0.00001
|
NM_001042492.3(NF1):c.1186-4A>G
|
rs769295150
|
0.00001
|
NM_001042492.3(NF1):c.1212T>A (p.Ser404=)
|
rs1757298995
|
0.00001
|
NM_001042492.3(NF1):c.1215A>G (p.Thr405=)
|
rs1405569320
|
0.00001
|
NM_001042492.3(NF1):c.1261-1G>A
|
rs2066618707
|
0.00001
|
NM_001042492.3(NF1):c.1264G>A (p.Ala422Thr)
|
rs786202145
|
0.00001
|
NM_001042492.3(NF1):c.1290T>C (p.Asp430=)
|
rs766688203
|
0.00001
|
NM_001042492.3(NF1):c.1293T>A (p.Ala431=)
|
rs2066619379
|
0.00001
|
NM_001042492.3(NF1):c.1319G>A (p.Arg440Gln)
|
rs1466678870
|
0.00001
|
NM_001042492.3(NF1):c.132C>A (p.Ile44=)
|
rs765778199
|
0.00001
|
NM_001042492.3(NF1):c.1356A>G (p.Gln452=)
|
rs1324833228
|
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.1371C>T (p.His457=)
|
rs1318894606
|
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.144A>G (p.Lys48=)
|
rs763375105
|
0.00001
|
NM_001042492.3(NF1):c.1472A>G (p.Tyr491Cys)
|
rs199474757
|
0.00001
|
NM_001042492.3(NF1):c.1506A>G (p.Ala502=)
|
rs1597698488
|
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.1627C>T (p.Gln543Ter)
|
rs894292181
|
0.00001
|
NM_001042492.3(NF1):c.1641+3A>G
|
rs754159326
|
0.00001
|
NM_001042492.3(NF1):c.1662G>T (p.Gln554His)
|
rs147594815
|
0.00001
|
NM_001042492.3(NF1):c.1680G>A (p.Leu560=)
|
rs773225166
|
0.00001
|
NM_001042492.3(NF1):c.1721+1G>A
|
rs1131691096
|
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.17C>G (p.Pro6Arg)
|
rs864622210
|
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.1875C>T (p.Leu625=)
|
rs974172157
|
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.1944A>G (p.Glu648=)
|
rs1465016257
|
0.00001
|
NM_001042492.3(NF1):c.1956T>G (p.Arg652=)
|
rs1429522155
|
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.1995C>T (p.Ser665=)
|
rs1352726800
|
0.00001
|
NM_001042492.3(NF1):c.1999A>G (p.Met667Val)
|
rs749833271
|
0.00001
|
NM_001042492.3(NF1):c.200A>G (p.Asn67Ser)
|
rs375038808
|
0.00001
|
NM_001042492.3(NF1):c.2031C>T (p.Pro677=)
|
rs753177596
|
0.00001
|
NM_001042492.3(NF1):c.2041C>T (p.Arg681Ter)
|
rs768638173
|
0.00001
|
NM_001042492.3(NF1):c.2045A>C (p.Gln682Pro)
|
rs1304889984
|
0.00001
|
NM_001042492.3(NF1):c.2054C>G (p.Thr685Ser)
|
rs876658190
|
0.00001
|
NM_001042492.3(NF1):c.2065G>A (p.Val689Met)
|
rs771784652
|
0.00001
|
NM_001042492.3(NF1):c.2097C>T (p.Asp699=)
|
rs547905840
|
0.00001
|
NM_001042492.3(NF1):c.2118C>T (p.Ala706=)
|
rs1156646242
|
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.2211A>G (p.Thr737=)
|
rs1178560430
|
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.2342A>T (p.His781Leu)
|
rs199474763
|
0.00001
|
NM_001042492.3(NF1):c.2345C>G (p.Ala782Gly)
|
rs1203924788
|
0.00001
|
NM_001042492.3(NF1):c.234T>C (p.Asn78=)
|
rs876658354
|
0.00001
|
NM_001042492.3(NF1):c.2364A>G (p.Thr788=)
|
rs1240233000
|
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.2447G>A (p.Arg816Gln)
|
rs762709897
|
0.00001
|
NM_001042492.3(NF1):c.2454C>G (p.Ser818=)
|
rs763634947
|
0.00001
|
NM_001042492.3(NF1):c.2476A>C (p.Ile826Leu)
|
rs767069721
|
0.00001
|
NM_001042492.3(NF1):c.2496C>T (p.Asp832=)
|
rs1227092939
|
0.00001
|
NM_001042492.3(NF1):c.2502A>G (p.Leu834=)
|
rs953405312
|
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.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.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.2850G>C (p.Gln950His)
|
rs863224446
|
0.00001
|
NM_001042492.3(NF1):c.2880T>C (p.Phe960=)
|
rs1377177645
|
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.294A>G (p.Pro98=)
|
rs1445884708
|
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.2991G>A (p.Arg997=)
|
rs755501749
|
0.00001
|
NM_001042492.3(NF1):c.2998C>T (p.Arg1000Cys)
|
rs367684252
|
0.00001
|
NM_001042492.3(NF1):c.3013A>G (p.Met1005Val)
|
rs1555614502
|
0.00001
|
NM_001042492.3(NF1):c.3030A>C (p.Gln1010His)
|
rs1405071456
|
0.00001
|
NM_001042492.3(NF1):c.3038C>T (p.Thr1013Met)
|
rs786203132
|
0.00001
|
NM_001042492.3(NF1):c.3045G>A (p.Leu1015=)
|
rs926335233
|
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.30C>G (p.Val10=)
|
rs1033348008
|
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.3198-5T>C
|
rs587782639
|
0.00001
|
NM_001042492.3(NF1):c.3242C>G (p.Ala1081Gly)
|
rs769941435
|
0.00001
|
NM_001042492.3(NF1):c.3285G>A (p.Leu1095=)
|
rs774759676
|
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.3395G>A (p.Arg1132His)
|
rs778920556
|
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.3586C>T (p.Leu1196Phe)
|
rs1555615039
|
0.00001
|
NM_001042492.3(NF1):c.3590C>G (p.Ala1197Gly)
|
rs370820478
|
0.00001
|
NM_001042492.3(NF1):c.3610C>T (p.Arg1204Trp)
|
rs199474732
|
0.00001
|
NM_001042492.3(NF1):c.3619A>C (p.Arg1207=)
|
rs202208560
|
0.00001
|
NM_001042492.3(NF1):c.3694C>T (p.Pro1232Ser)
|
rs1482085668
|
0.00001
|
NM_001042492.3(NF1):c.3709-2A>G
|
rs1597722374
|
0.00001
|
NM_001042492.3(NF1):c.3722G>A (p.Arg1241Gln)
|
rs543387071
|
0.00001
|
NM_001042492.3(NF1):c.3748C>T (p.Arg1250Trp)
|
rs1452005208
|
0.00001
|
NM_001042492.3(NF1):c.3749G>A (p.Arg1250Gln)
|
rs199474765
|
0.00001
|
NM_001042492.3(NF1):c.374G>A (p.Arg125His)
|
rs149003051
|
0.00001
|
NM_001042492.3(NF1):c.3778A>G (p.Met1260Val)
|
rs1264981144
|
0.00001
|
NM_001042492.3(NF1):c.37G>A (p.Val13Met)
|
rs1060500261
|
0.00001
|
NM_001042492.3(NF1):c.3811A>G (p.Met1271Val)
|
rs746583007
|
0.00001
|
NM_001042492.3(NF1):c.3822C>T (p.Leu1274=)
|
rs1489818104
|
0.00001
|
NM_001042492.3(NF1):c.3827G>A (p.Arg1276Gln)
|
rs137854556
|
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.3945A>G (p.Gln1315=)
|
rs1365148212
|
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.3987A>G (p.Ser1329=)
|
rs753270018
|
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.4032A>G (p.Glu1344=)
|
rs1555617330
|
0.00001
|
NM_001042492.3(NF1):c.403C>T (p.Arg135Trp)
|
rs775191883
|
0.00001
|
NM_001042492.3(NF1):c.4044T>C (p.His1348=)
|
rs1315375188
|
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.414C>G (p.Ala138=)
|
rs1597635949
|
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.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.4272A>T (p.Ala1424=)
|
rs753182376
|
0.00001
|
NM_001042492.3(NF1):c.4296A>G (p.Pro1432=)
|
rs864622492
|
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.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.452A>G (p.Asn151Ser)
|
rs1567817981
|
0.00001
|
NM_001042492.3(NF1):c.4577+3A>G
|
rs1060500246
|
0.00001
|
NM_001042492.3(NF1):c.4578-5T>C
|
rs772759508
|
0.00001
|
NM_001042492.3(NF1):c.4578G>A (p.Arg1526=)
|
rs1356757316
|
0.00001
|
NM_001042492.3(NF1):c.4593T>C (p.Val1531=)
|
rs773315342
|
0.00001
|
NM_001042492.3(NF1):c.4601G>A (p.Arg1534Gln)
|
rs867955218
|
0.00001
|
NM_001042492.3(NF1):c.462T>C (p.Phe154=)
|
rs750268216
|
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.468C>T (p.Arg156=)
|
rs779074793
|
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.4737T>C (p.His1579=)
|
rs1233883371
|
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.4793C>A (p.Thr1598Asn)
|
rs753453385
|
0.00001
|
NM_001042492.3(NF1):c.4813A>G (p.Ile1605Val)
|
rs199474766
|
0.00001
|
NM_001042492.3(NF1):c.4830A>G (p.Ala1610=)
|
rs552732964
|
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.4887G>A (p.Leu1629=)
|
rs368638966
|
0.00001
|
NM_001042492.3(NF1):c.4901A>G (p.Tyr1634Cys)
|
rs1597829621
|
0.00001
|
NM_001042492.3(NF1):c.4914A>G (p.Pro1638=)
|
rs186482097
|
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.5028A>G (p.Ala1676=)
|
rs778817599
|
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.5145G>A (p.Leu1715=)
|
rs762436173
|
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.5271T>C (p.Val1757=)
|
rs1399095966
|
0.00001
|
NM_001042492.3(NF1):c.5280T>C (p.Thr1760=)
|
rs779104728
|
0.00001
|
NM_001042492.3(NF1):c.5286C>T (p.Val1762=)
|
rs748566277
|
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.5455G>A (p.Ala1819Thr)
|
rs368998534
|
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.5488C>T (p.Arg1830Cys)
|
rs797045139
|
0.00001
|
NM_001042492.3(NF1):c.5490C>T (p.Arg1830=)
|
rs1245095693
|
0.00001
|
NM_001042492.3(NF1):c.5502A>G (p.Ser1834=)
|
rs747487014
|
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.5547T>C (p.Asp1849=)
|
rs1555533634
|
0.00001
|
NM_001042492.3(NF1):c.5571C>T (p.Ile1857=)
|
rs771837192
|
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.5665G>A (p.Glu1889Lys)
|
rs764782945
|
0.00001
|
NM_001042492.3(NF1):c.5731A>G (p.Ile1911Val)
|
rs146523293
|
0.00001
|
NM_001042492.3(NF1):c.5745G>T (p.Leu1915=)
|
rs1234091349
|
0.00001
|
NM_001042492.3(NF1):c.574C>T (p.Arg192Ter)
|
rs397514641
|
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.5772A>G (p.Leu1924=)
|
rs1337615274
|
0.00001
|
NM_001042492.3(NF1):c.5812+332A>G
|
rs863224491
|
0.00001
|
NM_001042492.3(NF1):c.5820A>G (p.Glu1940=)
|
rs1387817581
|
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.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.5958A>G (p.Lys1986=)
|
rs1216926117
|
0.00001
|
NM_001042492.3(NF1):c.60+5C>G
|
rs879413062
|
0.00001
|
NM_001042492.3(NF1):c.6006+4T>C
|
rs754909198
|
0.00001
|
NM_001042492.3(NF1):c.6012A>G (p.Thr2004=)
|
rs1232336416
|
0.00001
|
NM_001042492.3(NF1):c.607G>T (p.Ala203Ser)
|
rs904361724
|
0.00001
|
NM_001042492.3(NF1):c.6189A>G (p.Leu2063=)
|
rs1060503911
|
0.00001
|
NM_001042492.3(NF1):c.6192T>C (p.Ser2064=)
|
rs765094377
|
0.00001
|
NM_001042492.3(NF1):c.6262C>G (p.Leu2088Val)
|
rs752569823
|
0.00001
|
NM_001042492.3(NF1):c.6297T>C (p.His2099=)
|
rs751517473
|
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.6328T>C (p.Leu2110=)
|
rs780230966
|
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.6420T>C (p.His2140=)
|
rs762803346
|
0.00001
|
NM_001042492.3(NF1):c.6438G>A (p.Lys2146=)
|
rs1172220920
|
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.645C>T (p.Ser215=)
|
rs746163138
|
0.00001
|
NM_001042492.3(NF1):c.6468C>G (p.Phe2156Leu)
|
rs768464936
|
0.00001
|
NM_001042492.3(NF1):c.6480A>G (p.Lys2160=)
|
rs1060503918
|
0.00001
|
NM_001042492.3(NF1):c.6549G>A (p.Arg2183=)
|
rs1028183407
|
0.00001
|
NM_001042492.3(NF1):c.655-3T>C
|
rs746584147
|
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.6674G>A (p.Trp2225Ter)
|
rs1193716348
|
0.00001
|
NM_001042492.3(NF1):c.6704+1G>T
|
rs1060500376
|
0.00001
|
NM_001042492.3(NF1):c.6704+3A>G
|
rs375560135
|
0.00001
|
NM_001042492.3(NF1):c.6729C>G (p.Ser2243=)
|
rs1337738132
|
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.6783T>C (p.His2261=)
|
rs1311531049
|
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.6837A>C (p.Leu2279Phe)
|
rs144287929
|
0.00001
|
NM_001042492.3(NF1):c.6839A>G (p.Lys2280Arg)
|
rs773858629
|
0.00001
|
NM_001042492.3(NF1):c.6855C>G (p.Tyr2285Ter)
|
rs772295894
|
0.00001
|
NM_001042492.3(NF1):c.6879T>C (p.Ala2293=)
|
rs761125983
|
0.00001
|
NM_001042492.3(NF1):c.6891A>G (p.Ala2297=)
|
rs776626153
|
0.00001
|
NM_001042492.3(NF1):c.6921+5T>C
|
rs370402788
|
0.00001
|
NM_001042492.3(NF1):c.6936C>G (p.His2312Gln)
|
rs1567618937
|
0.00001
|
NM_001042492.3(NF1):c.6945C>G (p.Leu2315=)
|
rs751893971
|
0.00001
|
NM_001042492.3(NF1):c.6958G>A (p.Val2320Met)
|
rs766323701
|
0.00001
|
NM_001042492.3(NF1):c.6C>G (p.Ala2=)
|
rs876660128
|
0.00001
|
NM_001042492.3(NF1):c.7009C>T (p.Leu2337Phe)
|
rs367734104
|
0.00001
|
NM_001042492.3(NF1):c.7014T>C (p.Leu2338=)
|
rs1309666510
|
0.00001
|
NM_001042492.3(NF1):c.7020A>G (p.Gln2340=)
|
rs777399429
|
0.00001
|
NM_001042492.3(NF1):c.7032T>C (p.Thr2344=)
|
rs1201730858
|
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.7044C>T (p.Leu2348=)
|
rs1350755921
|
0.00001
|
NM_001042492.3(NF1):c.7045C>T (p.Arg2349Cys)
|
rs56013763
|
0.00001
|
NM_001042492.3(NF1):c.7071G>A (p.Glu2357=)
|
rs1368077280
|
0.00001
|
NM_001042492.3(NF1):c.7074A>G (p.Glu2358=)
|
rs1388098913
|
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.7140C>A (p.Leu2380=)
|
rs1318891665
|
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.7149C>T (p.Asn2383=)
|
rs2069868799
|
0.00001
|
NM_001042492.3(NF1):c.7190-4G>A
|
rs1414521347
|
0.00001
|
NM_001042492.3(NF1):c.7191G>A (p.Gly2397=)
|
rs773474652
|
0.00001
|
NM_001042492.3(NF1):c.7211C>T (p.Ala2404Val)
|
rs771706364
|
0.00001
|
NM_001042492.3(NF1):c.7213A>G (p.Ile2405Val)
|
rs565708398
|
0.00001
|
NM_001042492.3(NF1):c.7253C>T (p.Thr2418Ile)
|
rs764022114
|
0.00001
|
NM_001042492.3(NF1):c.7298C>T (p.Thr2433Ile)
|
rs755749772
|
0.00001
|
NM_001042492.3(NF1):c.7306G>A (p.Val2436Met)
|
rs876659856
|
0.00001
|
NM_001042492.3(NF1):c.731-5T>C
|
rs1597659721
|
0.00001
|
NM_001042492.3(NF1):c.7314C>T (p.Tyr2438=)
|
rs1060500385
|
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.7332A>G (p.Thr2444=)
|
rs759005886
|
0.00001
|
NM_001042492.3(NF1):c.7335G>A (p.Val2445=)
|
rs1333741084
|
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>T (p.Gly2499Val)
|
rs375176282
|
0.00001
|
NM_001042492.3(NF1):c.7503A>G (p.Glu2501=)
|
rs1466552910
|
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.7533C>T (p.Val2511=)
|
rs760733171
|
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.7616-4A>G
|
rs761675429
|
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.7739-5T>C
|
rs1156443249
|
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.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.7839G>A (p.Pro2613=)
|
rs752218441
|
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.7872T>A (p.Ala2624=)
|
rs1399938334
|
0.00001
|
NM_001042492.3(NF1):c.7875A>G (p.Thr2625=)
|
rs763646216
|
0.00001
|
NM_001042492.3(NF1):c.7876C>G (p.Leu2626Val)
|
rs1555536748
|
0.00001
|
NM_001042492.3(NF1):c.7887T>C (p.Tyr2629=)
|
rs767860040
|
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.7980G>A (p.Leu2660=)
|
rs758573977
|
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.8106C>T (p.Tyr2702=)
|
rs754271057
|
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.8238T>G (p.Ile2746Met)
|
rs779789452
|
0.00001
|
NM_001042492.3(NF1):c.824T>C (p.Ile275Thr)
|
rs1406698961
|
0.00001
|
NM_001042492.3(NF1):c.8289T>G (p.Pro2763=)
|
rs1335800376
|
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.8328T>C (p.Leu2776=)
|
rs1408608099
|
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.8463G>A (p.Val2821=)
|
rs746049685
|
0.00001
|
NM_001042492.3(NF1):c.8478C>T (p.Ser2826=)
|
rs770148738
|
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.888+5G>A
|
rs556444929
|
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_006767.4(LZTR1):c.-38T>A
|
rs1459786357
|
0.00001
|
NM_006767.4(LZTR1):c.1001G>C (p.Gly334Ala)
|
rs777494767
|
0.00001
|
NM_006767.4(LZTR1):c.1014C>T (p.Pro338=)
|
rs770548687
|
0.00001
|
NM_006767.4(LZTR1):c.1048C>T (p.Leu350=)
|
rs199565862
|
0.00001
|
NM_006767.4(LZTR1):c.1064G>A (p.Arg355Gln)
|
rs1169088155
|
0.00001
|
NM_006767.4(LZTR1):c.1067T>C (p.Val356Ala)
|
rs777546040
|
0.00001
|
NM_006767.4(LZTR1):c.1104C>G (p.Asp368Glu)
|
rs1271934002
|
0.00001
|
NM_006767.4(LZTR1):c.1146G>A (p.Ser382=)
|
rs751444145
|
0.00001
|
NM_006767.4(LZTR1):c.1149+3A>G
|
rs542715642
|
0.00001
|
NM_006767.4(LZTR1):c.115G>T (p.Glu39Ter)
|
rs762434811
|
0.00001
|
NM_006767.4(LZTR1):c.1173C>T (p.His391=)
|
rs761619498
|
0.00001
|
NM_006767.4(LZTR1):c.1176G>A (p.Ala392=)
|
rs750130648
|
0.00001
|
NM_006767.4(LZTR1):c.118T>C (p.Tyr40His)
|
rs146436209
|
0.00001
|
NM_006767.4(LZTR1):c.1210G>A (p.Gly404Arg)
|
rs1470449160
|
0.00001
|
NM_006767.4(LZTR1):c.1251C>G (p.Tyr417Ter)
|
rs1924657431
|
0.00001
|
NM_006767.4(LZTR1):c.1260+1G>A
|
rs143868364
|
0.00001
|
NM_006767.4(LZTR1):c.1283C>T (p.Thr428Met)
|
rs1253225013
|
0.00001
|
NM_006767.4(LZTR1):c.1304G>A (p.Arg435Gln)
|
rs1157807812
|
0.00001
|
NM_006767.4(LZTR1):c.1311G>A (p.Trp437Ter)
|
rs770933647
|
0.00001
|
NM_006767.4(LZTR1):c.1330G>A (p.Asp444Asn)
|
rs775051211
|
0.00001
|
NM_006767.4(LZTR1):c.1353+5G>A
|
rs544140578
|
0.00001
|
NM_006767.4(LZTR1):c.1354-5T>A
|
rs368421766
|
0.00001
|
NM_006767.4(LZTR1):c.1365C>T (p.Cys455=)
|
rs1386837360
|
0.00001
|
NM_006767.4(LZTR1):c.1387G>A (p.Val463Ile)
|
rs1269398431
|
0.00001
|
NM_006767.4(LZTR1):c.1411C>T (p.Arg471Cys)
|
rs1366650212
|
0.00001
|
NM_006767.4(LZTR1):c.1425G>A (p.Thr475=)
|
rs140414846
|
0.00001
|
NM_006767.4(LZTR1):c.1432C>T (p.Arg478Trp)
|
rs150365548
|
0.00001
|
NM_006767.4(LZTR1):c.1467C>T (p.Ala489=)
|
rs554516790
|
0.00001
|
NM_006767.4(LZTR1):c.1469C>A (p.Ala490Asp)
|
rs751255482
|
0.00001
|
NM_006767.4(LZTR1):c.1492G>A (p.Gly498Ser)
|
rs779080464
|
0.00001
|
NM_006767.4(LZTR1):c.1509G>A (p.Gly503=)
|
rs1015929081
|
0.00001
|
NM_006767.4(LZTR1):c.1519C>T (p.Pro507Ser)
|
rs1461135179
|
0.00001
|
NM_006767.4(LZTR1):c.1520C>T (p.Pro507Leu)
|
rs983395423
|
0.00001
|
NM_006767.4(LZTR1):c.1541G>A (p.Arg514Gln)
|
rs201687217
|
0.00001
|
NM_006767.4(LZTR1):c.1564G>A (p.Glu522Lys)
|
rs201159165
|
0.00001
|
NM_006767.4(LZTR1):c.1570C>T (p.Leu524Phe)
|
rs1268689557
|
0.00001
|
NM_006767.4(LZTR1):c.1609C>T (p.Arg537Trp)
|
rs754507552
|
0.00001
|
NM_006767.4(LZTR1):c.1615G>A (p.Gly539Ser)
|
rs1232362523
|
0.00001
|
NM_006767.4(LZTR1):c.1621G>A (p.Val541Met)
|
rs1009167232
|
0.00001
|
NM_006767.4(LZTR1):c.1624G>A (p.Glu542Lys)
|
rs745516367
|
0.00001
|
NM_006767.4(LZTR1):c.1675T>C (p.Leu559=)
|
rs1472282882
|
0.00001
|
NM_006767.4(LZTR1):c.1689G>A (p.Glu563=)
|
rs977829129
|
0.00001
|
NM_006767.4(LZTR1):c.1717T>C (p.Ser573Pro)
|
rs1269824662
|
0.00001
|
NM_006767.4(LZTR1):c.1729C>T (p.Gln577Ter)
|
rs1390034681
|
0.00001
|
NM_006767.4(LZTR1):c.1733_1734del (p.Asn578fs)
|
rs1460026299
|
0.00001
|
NM_006767.4(LZTR1):c.1734C>T (p.Asn578=)
|
rs199619910
|
0.00001
|
NM_006767.4(LZTR1):c.1735G>A (p.Val579Met)
|
rs765416902
|
0.00001
|
NM_006767.4(LZTR1):c.1785+1G>A
|
rs145594158
|
0.00001
|
NM_006767.4(LZTR1):c.1786-4C>T
|
rs980847802
|
0.00001
|
NM_006767.4(LZTR1):c.1786G>A (p.Glu596Lys)
|
rs1035245166
|
0.00001
|
NM_006767.4(LZTR1):c.180C>T (p.Cys60=)
|
rs766446110
|
0.00001
|
NM_006767.4(LZTR1):c.1842G>A (p.Met614Ile)
|
rs763044573
|
0.00001
|
NM_006767.4(LZTR1):c.1856G>A (p.Arg619His)
|
rs568213908
|
0.00001
|
NM_006767.4(LZTR1):c.1874T>C (p.Ile625Thr)
|
rs757928335
|
0.00001
|
NM_006767.4(LZTR1):c.1889G>A (p.Arg630Gln)
|
rs781776791
|
0.00001
|
NM_006767.4(LZTR1):c.1892G>A (p.Arg631Gln)
|
rs372970613
|
0.00001
|
NM_006767.4(LZTR1):c.1894A>C (p.Lys632Gln)
|
rs1353029152
|
0.00001
|
NM_006767.4(LZTR1):c.1907C>T (p.Pro636Leu)
|
rs553579098
|
0.00001
|
NM_006767.4(LZTR1):c.1912C>T (p.Arg638Cys)
|
rs1213535694
|
0.00001
|
NM_006767.4(LZTR1):c.1913G>A (p.Arg638His)
|
rs1924778440
|
0.00001
|
NM_006767.4(LZTR1):c.1919C>T (p.Pro640Leu)
|
rs866139168
|
0.00001
|
NM_006767.4(LZTR1):c.1934T>G (p.Val645Gly)
|
rs1190268151
|
0.00001
|
NM_006767.4(LZTR1):c.1959G>A (p.Gln653=)
|
rs372034133
|
0.00001
|
NM_006767.4(LZTR1):c.1964T>C (p.Met655Thr)
|
rs199696566
|
0.00001
|
NM_006767.4(LZTR1):c.1971A>G (p.Ala657=)
|
rs764398850
|
0.00001
|
NM_006767.4(LZTR1):c.1977G>A (p.Leu659=)
|
rs751734655
|
0.00001
|
NM_006767.4(LZTR1):c.1982G>A (p.Gly661Glu)
|
rs750582696
|
0.00001
|
NM_006767.4(LZTR1):c.1986G>A (p.Ala662=)
|
rs779018174
|
0.00001
|
NM_006767.4(LZTR1):c.2002G>T (p.Asp668Tyr)
|
rs776005012
|
0.00001
|
NM_006767.4(LZTR1):c.2033G>A (p.Arg678Gln)
|
rs752699291
|
0.00001
|
NM_006767.4(LZTR1):c.2044A>G (p.Lys682Glu)
|
rs758472207
|
0.00001
|
NM_006767.4(LZTR1):c.2059G>A (p.Ala687Thr)
|
rs780915875
|
0.00001
|
NM_006767.4(LZTR1):c.2069+3G>T
|
rs1924822444
|
0.00001
|
NM_006767.4(LZTR1):c.2069G>C (p.Ser690Thr)
|
rs774921494
|
0.00001
|
NM_006767.4(LZTR1):c.2071T>C (p.Tyr691His)
|
rs1924826632
|
0.00001
|
NM_006767.4(LZTR1):c.2075T>C (p.Phe692Ser)
|
rs766752047
|
0.00001
|
NM_006767.4(LZTR1):c.2098A>G (p.Met700Val)
|
rs755871821
|
0.00001
|
NM_006767.4(LZTR1):c.2101C>T (p.Pro701Ser)
|
rs1215936951
|
0.00001
|
NM_006767.4(LZTR1):c.2138T>C (p.Met713Thr)
|
rs371920401
|
0.00001
|
NM_006767.4(LZTR1):c.2145C>T (p.Pro715=)
|
rs769927418
|
0.00001
|
NM_006767.4(LZTR1):c.2161G>A (p.Glu721Lys)
|
rs570948606
|
0.00001
|
NM_006767.4(LZTR1):c.2188G>A (p.Gly730Ser)
|
rs199625022
|
0.00001
|
NM_006767.4(LZTR1):c.2216C>T (p.Ser739Leu)
|
rs762991620
|
0.00001
|
NM_006767.4(LZTR1):c.2217G>A (p.Ser739=)
|
rs768672857
|
0.00001
|
NM_006767.4(LZTR1):c.2220-5C>T
|
rs979427939
|
0.00001
|
NM_006767.4(LZTR1):c.2234C>T (p.Ala745Val)
|
rs1189643616
|
0.00001
|
NM_006767.4(LZTR1):c.2246A>G (p.Tyr749Cys)
|
rs755260815
|
0.00001
|
NM_006767.4(LZTR1):c.2259C>T (p.Asn753=)
|
rs1319068656
|
0.00001
|
NM_006767.4(LZTR1):c.2278T>C (p.Cys760Arg)
|
rs1419388177
|
0.00001
|
NM_006767.4(LZTR1):c.2295G>A (p.Glu765=)
|
rs1175579360
|
0.00001
|
NM_006767.4(LZTR1):c.2296A>G (p.Met766Val)
|
rs766793703
|
0.00001
|
NM_006767.4(LZTR1):c.2309T>C (p.Val770Ala)
|
rs752880731
|
0.00001
|
NM_006767.4(LZTR1):c.2343C>G (p.Asp781Glu)
|
rs763193690
|
0.00001
|
NM_006767.4(LZTR1):c.2406+1G>A
|
rs770322736
|
0.00001
|
NM_006767.4(LZTR1):c.2407-2A>G
|
rs1158550690
|
0.00001
|
NM_006767.4(LZTR1):c.2432C>T (p.Ser811Leu)
|
rs769880462
|
0.00001
|
NM_006767.4(LZTR1):c.2433G>A (p.Ser811=)
|
rs761683620
|
0.00001
|
NM_006767.4(LZTR1):c.2437A>C (p.Ser813Arg)
|
rs1311281590
|
0.00001
|
NM_006767.4(LZTR1):c.2456A>C (p.Asp819Ala)
|
rs765969026
|
0.00001
|
NM_006767.4(LZTR1):c.2462T>C (p.Ile821Thr)
|
rs1275511136
|
0.00001
|
NM_006767.4(LZTR1):c.2471T>C (p.Leu824Pro)
|
rs752239353
|
0.00001
|
NM_006767.4(LZTR1):c.2487dup (p.Asp830fs)
|
rs745630993
|
0.00001
|
NM_006767.4(LZTR1):c.2490C>T (p.Asp830=)
|
rs778388713
|
0.00001
|
NM_006767.4(LZTR1):c.2500G>A (p.Ala834Thr)
|
rs894106897
|
0.00001
|
NM_006767.4(LZTR1):c.2512G>A (p.Ala838Thr)
|
rs749366666
|
0.00001
|
NM_006767.4(LZTR1):c.260A>G (p.Asn87Ser)
|
rs971970608
|
0.00001
|
NM_006767.4(LZTR1):c.263+1G>A
|
rs761241914
|
0.00001
|
NM_006767.4(LZTR1):c.320G>C (p.Arg107Thr)
|
rs1301901369
|
0.00001
|
NM_006767.4(LZTR1):c.321-5C>G
|
rs758140794
|
0.00001
|
NM_006767.4(LZTR1):c.360C>T (p.His120=)
|
rs1249605552
|
0.00001
|
NM_006767.4(LZTR1):c.361C>T (p.His121Tyr)
|
rs1569154492
|
0.00001
|
NM_006767.4(LZTR1):c.365C>T (p.Ser122Leu)
|
rs587777177
|
0.00001
|
NM_006767.4(LZTR1):c.36G>A (p.Gly12=)
|
rs756364667
|
0.00001
|
NM_006767.4(LZTR1):c.375C>A (p.Val125=)
|
rs201356174
|
0.00001
|
NM_006767.4(LZTR1):c.396C>T (p.Val132=)
|
rs1601717032
|
0.00001
|
NM_006767.4(LZTR1):c.400+3A>G
|
rs371956748
|
0.00001
|
NM_006767.4(LZTR1):c.401-2A>G
|
rs1222197005
|
0.00001
|
NM_006767.4(LZTR1):c.401-2_401-1del
|
rs769200796
|
0.00001
|
NM_006767.4(LZTR1):c.450C>T (p.Asn150=)
|
rs560328641
|
0.00001
|
NM_006767.4(LZTR1):c.465C>G (p.Tyr155Ter)
|
rs753295968
|
0.00001
|
NM_006767.4(LZTR1):c.47T>C (p.Leu16Pro)
|
rs578100969
|
0.00001
|
NM_006767.4(LZTR1):c.482del (p.Gln161fs)
|
rs1924462309
|
0.00001
|
NM_006767.4(LZTR1):c.485G>A (p.Trp162Ter)
|
rs1458120855
|
0.00001
|
NM_006767.4(LZTR1):c.509G>A (p.Arg170Gln)
|
rs781431741
|
0.00001
|
NM_006767.4(LZTR1):c.510-2A>G
|
rs1458682620
|
0.00001
|
NM_006767.4(LZTR1):c.519C>T (p.Val173=)
|
rs1359944207
|
0.00001
|
NM_006767.4(LZTR1):c.522T>G (p.Ala174=)
|
rs745514794
|
0.00001
|
NM_006767.4(LZTR1):c.529del (p.Ala177fs)
|
rs558510095
|
0.00001
|
NM_006767.4(LZTR1):c.533A>G (p.His178Arg)
|
rs775028367
|
0.00001
|
NM_006767.4(LZTR1):c.539C>T (p.Ala180Val)
|
rs1404043176
|
0.00001
|
NM_006767.4(LZTR1):c.542C>T (p.Thr181Met)
|
rs774992323
|
0.00001
|
NM_006767.4(LZTR1):c.548A>T (p.Tyr183Phe)
|
rs538624569
|
0.00001
|
NM_006767.4(LZTR1):c.55G>C (p.Gly19Arg)
|
rs375788038
|
0.00001
|
NM_006767.4(LZTR1):c.588C>T (p.Asn196=)
|
rs752462405
|
0.00001
|
NM_006767.4(LZTR1):c.589G>A (p.Ala197Thr)
|
rs371522487
|
0.00001
|
NM_006767.4(LZTR1):c.59C>T (p.Ala20Val)
|
rs770762358
|
0.00001
|
NM_006767.4(LZTR1):c.614T>C (p.Ile205Thr)
|
rs1287917092
|
0.00001
|
NM_006767.4(LZTR1):c.636C>T (p.Leu212=)
|
rs1423472953
|
0.00001
|
NM_006767.4(LZTR1):c.651+1G>T
|
rs1450044732
|
0.00001
|
NM_006767.4(LZTR1):c.658C>T (p.Gln220Ter)
|
rs749437251
|
0.00001
|
NM_006767.4(LZTR1):c.671dup (p.Ser227fs)
|
rs1351226319
|
0.00001
|
NM_006767.4(LZTR1):c.689A>G (p.Asn230Ser)
|
rs752439876
|
0.00001
|
NM_006767.4(LZTR1):c.696C>T (p.Pro232=)
|
rs763686274
|
0.00001
|
NM_006767.4(LZTR1):c.704T>C (p.Val235Ala)
|
rs1413588941
|
0.00001
|
NM_006767.4(LZTR1):c.714C>T (p.Asp238=)
|
rs899390523
|
0.00001
|
NM_006767.4(LZTR1):c.723T>C (p.Phe241=)
|
rs138965288
|
0.00001
|
NM_006767.4(LZTR1):c.73G>T (p.Ala25Ser)
|
rs780281625
|
0.00001
|
NM_006767.4(LZTR1):c.784G>A (p.Asp262Asn)
|
rs772266158
|
0.00001
|
NM_006767.4(LZTR1):c.786C>T (p.Asp262=)
|
rs759517574
|
0.00001
|
NM_006767.4(LZTR1):c.791C>T (p.Thr264Met)
|
rs775102121
|
0.00001
|
NM_006767.4(LZTR1):c.820C>T (p.Leu274Phe)
|
rs1200675291
|
0.00001
|
NM_006767.4(LZTR1):c.836C>T (p.Pro279Leu)
|
rs373707826
|
0.00001
|
NM_006767.4(LZTR1):c.850C>T (p.Arg284Cys)
|
rs797045165
|
0.00001
|
NM_006767.4(LZTR1):c.856G>A (p.Gly286Arg)
|
rs773016962
|
0.00001
|
NM_006767.4(LZTR1):c.909C>T (p.Ala303=)
|
rs765549963
|
0.00001
|
NM_006767.4(LZTR1):c.927C>T (p.Asn309=)
|
rs146177621
|
0.00001
|
NM_006767.4(LZTR1):c.928G>A (p.Glu310Lys)
|
rs1192715554
|
0.00001
|
NM_006767.4(LZTR1):c.954C>T (p.Phe318=)
|
rs1445469428
|
0.00001
|
NM_006767.4(LZTR1):c.990C>T (p.Ser330=)
|
rs548900356
|
0.00001
|
NM_006767.4(LZTR1):c.993+1G>A
|
rs770368435
|
0.00001
|
NC_000022.11:g.20988013del
|
rs774779041
|
|
NM_000267.3(NF1):c.1393_1394delAG
|
rs1597698310
|
|
NM_000267.3(NF1):c.2252delG
|
rs1597713259
|
|
NM_000267.3(NF1):c.3199_3200delGA
|
|
|
NM_000267.3(NF1):c.6791dup (p.Tyr2264Ter)
|
rs876657715
|
|
NM_000267.3:c.4773-12649_4773-3del12647
|
|
|
NM_000267.3:c.5845_5846insALU
|
|
|
NM_000267.3:c.6130_6131insALU
|
|
|
NM_000267.3:c.8455_8456insALU
|
|
|
NM_001042492.3(NF1):c.-2A>G
|
rs876659342
|
|
NM_001042492.3(NF1):c.-2A>T
|
rs876659342
|
|
NM_001042492.3(NF1):c.-2_3del (p.Met1fs)
|
|
|
NM_001042492.3(NF1):c.-4G>A
|
|
|
NM_001042492.3(NF1):c.1002C>G (p.Ile334Met)
|
rs2143873647
|
|
NM_001042492.3(NF1):c.1014T>C (p.Asp338=)
|
rs2066508867
|
|
NM_001042492.3(NF1):c.1019_1020del (p.Ser340fs)
|
rs1555610903
|
|
NM_001042492.3(NF1):c.101T>C (p.Val34Ala)
|
rs1217358160
|
|
NM_001042492.3(NF1):c.1021G>A (p.Val341Ile)
|
rs1555610907
|
|
NM_001042492.3(NF1):c.1021_1022del (p.Val341fs)
|
rs2066509100
|
|
NM_001042492.3(NF1):c.1023_1024insGACA (p.Ile342fs)
|
rs2143874147
|
|
NM_001042492.3(NF1):c.1024A>G (p.Ile342Val)
|
rs2066509214
|
|
NM_001042492.3(NF1):c.1024A>T (p.Ile342Phe)
|
|
|
NM_001042492.3(NF1):c.1029C>G (p.Phe343Leu)
|
|
|
NM_001042492.3(NF1):c.1029C>T (p.Phe343=)
|
|
|
NM_001042492.3(NF1):c.102C>T (p.Val34=)
|
rs760823948
|
|
NM_001042492.3(NF1):c.1031T>C (p.Leu344Pro)
|
|
|
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>T (p.Gln347Ter)
|
rs1555610910
|
|
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.1044C>T (p.Ser348=)
|
|
|
NM_001042492.3(NF1):c.1045A>G (p.Met349Val)
|
rs776050648
|
|
NM_001042492.3(NF1):c.1048G>T (p.Val350Leu)
|
|
|
NM_001042492.3(NF1):c.1050G>A (p.Val350=)
|
|
|
NM_001042492.3(NF1):c.1051G>T (p.Val351Phe)
|
rs1597681173
|
|
NM_001042492.3(NF1):c.1052T>C (p.Val351Ala)
|
rs878853861
|
|
NM_001042492.3(NF1):c.1057C>T (p.Leu353Phe)
|
|
|
NM_001042492.3(NF1):c.1059T>G (p.Leu353=)
|
|
|
NM_001042492.3(NF1):c.1062+2T>C
|
rs2066510391
|
|
NM_001042492.3(NF1):c.1062+2T>G
|
rs2066510391
|
|
NM_001042492.3(NF1):c.1062+3A>G
|
rs1057521098
|
|
NM_001042492.3(NF1):c.1062+5C>T
|
rs1555610916
|
|
NM_001042492.3(NF1):c.1062G>A (p.Lys354=)
|
rs1131691118
|
|
NM_001042492.3(NF1):c.1063-13G>A
|
rs1131691066
|
|
NM_001042492.3(NF1):c.1063-1G>A
|
rs1555610955
|
|
NM_001042492.3(NF1):c.1063-2A>G
|
rs1060500358
|
|
NM_001042492.3(NF1):c.1063-4A>G
|
|
|
NM_001042492.3(NF1):c.1065C>G (p.Asn355Lys)
|
|
|
NM_001042492.3(NF1):c.1067T>C (p.Leu356Pro)
|
|
|
NM_001042492.3(NF1):c.1069C>T (p.Leu357Phe)
|
rs1567835662
|
|
NM_001042492.3(NF1):c.1074del (p.Phe358fs)
|
|
|
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.1081A>G (p.Ser361Gly)
|
|
|
NM_001042492.3(NF1):c.1085A>G (p.Lys362Arg)
|
rs1555610976
|
|
NM_001042492.3(NF1):c.1089A>C (p.Pro363=)
|
|
|
NM_001042492.3(NF1):c.1094C>T (p.Ser365Leu)
|
|
|
NM_001042492.3(NF1):c.1095A>T (p.Ser365=)
|
rs150814769
|
|
NM_001042492.3(NF1):c.1095_1096del (p.Gly367fs)
|
rs1597681960
|
|
NM_001042492.3(NF1):c.1096A>C (p.Arg366=)
|
|
|
NM_001042492.3(NF1):c.1099G>A (p.Gly367Ser)
|
|
|
NM_001042492.3(NF1):c.1103G>A (p.Ser368Asn)
|
rs1597681975
|
|
NM_001042492.3(NF1):c.1107G>A (p.Gln369=)
|
rs1193249274
|
|
NM_001042492.3(NF1):c.1108C>A (p.Pro370Thr)
|
|
|
NM_001042492.3(NF1):c.1108C>T (p.Pro370Ser)
|
rs878853862
|
|
NM_001042492.3(NF1):c.110A>C (p.Glu37Ala)
|
|
|
NM_001042492.3(NF1):c.1110del (p.Ala371fs)
|
rs2066519817
|
|
NM_001042492.3(NF1):c.1113A>G (p.Ala371=)
|
rs786201652
|
|
NM_001042492.3(NF1):c.1116T>C (p.Asp372=)
|
rs1597682008
|
|
NM_001042492.3(NF1):c.1119G>A (p.Val373=)
|
|
|
NM_001042492.3(NF1):c.111G>A (p.Glu37=)
|
rs1555604893
|
|
NM_001042492.3(NF1):c.1121_1122del (p.Asp374fs)
|
rs1597682030
|
|
NM_001042492.3(NF1):c.1122T>C (p.Asp374=)
|
rs2143879438
|
|
NM_001042492.3(NF1):c.1123C>A (p.Leu375Ile)
|
|
|
NM_001042492.3(NF1):c.1128G>A (p.Met376Ile)
|
rs2143879572
|
|
NM_001042492.3(NF1):c.1128G>T (p.Met376Ile)
|
|
|
NM_001042492.3(NF1):c.1128dup (p.Ile377fs)
|
|
|
NM_001042492.3(NF1):c.1129A>G (p.Ile377Val)
|
rs2143879598
|
|
NM_001042492.3(NF1):c.1131T>C (p.Ile377=)
|
rs1555610993
|
|
NM_001042492.3(NF1):c.1137C>G (p.Cys379Trp)
|
|
|
NM_001042492.3(NF1):c.1139T>C (p.Leu380Pro)
|
rs1555611004
|
|
NM_001042492.3(NF1):c.1152dup (p.Arg385fs)
|
|
|
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.1160G>A (p.Ser387Asn)
|
rs1555611025
|
|
NM_001042492.3(NF1):c.1160G>T (p.Ser387Ile)
|
|
|
NM_001042492.3(NF1):c.116A>G (p.Asn39Ser)
|
rs1567814494
|
|
NM_001042492.3(NF1):c.1179del (p.Phe394fs)
|
rs2143880536
|
|
NM_001042492.3(NF1):c.117C>T (p.Asn39=)
|
rs1555604894
|
|
NM_001042492.3(NF1):c.1182T>G (p.Phe394Leu)
|
rs786202581
|
|
NM_001042492.3(NF1):c.1182dup (p.Lys395Ter)
|
rs1597682159
|
|
NM_001042492.3(NF1):c.1184A>C (p.Lys395Thr)
|
|
|
NM_001042492.3(NF1):c.1185+1G>A
|
rs864622161
|
|
NM_001042492.3(NF1):c.1185+2T>A
|
|
|
NM_001042492.3(NF1):c.1185+4A>G
|
|
|
NM_001042492.3(NF1):c.1185+5G>C
|
rs1597682182
|
|
NM_001042492.3(NF1):c.1186-1G>A
|
rs876660782
|
|
NM_001042492.3(NF1):c.1186-2A>C
|
|
|
NM_001042492.3(NF1):c.1186A>C (p.Ile396Leu)
|
rs1413735911
|
|
NM_001042492.3(NF1):c.1188C>G (p.Ile396Met)
|
|
|
NM_001042492.3(NF1):c.118A>T (p.Lys40Ter)
|
|
|
NM_001042492.3(NF1):c.1190G>A (p.Cys397Tyr)
|
|
|
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.1197T>C (p.Ala399=)
|
rs1597682745
|
|
NM_001042492.3(NF1):c.1198C>T (p.Gln400Ter)
|
rs1597682751
|
|
NM_001042492.3(NF1):c.119A>G (p.Lys40Arg)
|
|
|
NM_001042492.3(NF1):c.1200G>C (p.Gln400His)
|
rs2066527837
|
|
NM_001042492.3(NF1):c.1210_1212del (p.Ser404del)
|
|
|
NM_001042492.3(NF1):c.1211C>A (p.Ser404Tyr)
|
rs1597682758
|
|
NM_001042492.3(NF1):c.1214C>T (p.Thr405Ile)
|
rs1555611082
|
|
NM_001042492.3(NF1):c.1220A>T (p.His407Leu)
|
|
|
NM_001042492.3(NF1):c.1222T>G (p.Tyr408Asp)
|
rs2066528210
|
|
NM_001042492.3(NF1):c.1224T>A (p.Tyr408Ter)
|
rs1555611089
|
|
NM_001042492.3(NF1):c.1225G>A (p.Val409Met)
|
rs2143886228
|
|
NM_001042492.3(NF1):c.1228C>T (p.Leu410=)
|
rs2143886319
|
|
NM_001042492.3(NF1):c.122A>C (p.Glu41Ala)
|
rs786203038
|
|
NM_001042492.3(NF1):c.1230G>A (p.Leu410=)
|
rs1168457824
|
|
NM_001042492.3(NF1):c.1231G>A (p.Val411Ile)
|
rs199703072
|
|
NM_001042492.3(NF1):c.1233A>T (p.Val411=)
|
|
|
NM_001042492.3(NF1):c.1238C>G (p.Ser413Ter)
|
rs1241533665
|
|
NM_001042492.3(NF1):c.1238C>T (p.Ser413Leu)
|
|
|
NM_001042492.3(NF1):c.1240C>T (p.Leu414Phe)
|
|
|
NM_001042492.3(NF1):c.1242C>T (p.Leu414=)
|
|
|
NM_001042492.3(NF1):c.1246C>T (p.Arg416Ter)
|
rs764079291
|
|
NM_001042492.3(NF1):c.1247G>C (p.Arg416Pro)
|
|
|
NM_001042492.3(NF1):c.1252A>G (p.Ile418Val)
|
rs1597682898
|
|
NM_001042492.3(NF1):c.1257C>A (p.Thr419=)
|
rs774269651
|
|
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>T (p.Cys42Phe)
|
|
|
NM_001042492.3(NF1):c.1260+1604A>G
|
rs1131691067
|
|
NM_001042492.3(NF1):c.1260+1G>C
|
rs267606603
|
|
NM_001042492.3(NF1):c.1260+1G>T
|
rs267606603
|
|
NM_001042492.3(NF1):c.1260+2T>C
|
rs1555611110
|
|
NM_001042492.3(NF1):c.1260+3A>G
|
|
|
NM_001042492.3(NF1):c.1260T>C (p.Asn420=)
|
rs2143887054
|
|
NM_001042492.3(NF1):c.1261-19G>A
|
rs1597688663
|
|
NM_001042492.3(NF1):c.1261-2A>G
|
rs2066618684
|
|
NM_001042492.3(NF1):c.1261-3T>C
|
|
|
NM_001042492.3(NF1):c.1261-5_1262del
|
|
|
NM_001042492.3(NF1):c.1261T>G (p.Ser421Ala)
|
rs878853864
|
|
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.1267T>C (p.Leu423=)
|
rs773108080
|
|
NM_001042492.3(NF1):c.1268T>G (p.Leu423Trp)
|
|
|
NM_001042492.3(NF1):c.1273T>C (p.Trp425Arg)
|
|
|
NM_001042492.3(NF1):c.1274G>C (p.Trp425Ser)
|
rs1597688734
|
|
NM_001042492.3(NF1):c.127C>T (p.Leu43=)
|
rs1060503913
|
|
NM_001042492.3(NF1):c.1282A>G (p.Lys428Glu)
|
rs1597688751
|
|
NM_001042492.3(NF1):c.128T>C (p.Leu43Pro)
|
rs1555604899
|
|
NM_001042492.3(NF1):c.1291G>A (p.Ala431Thr)
|
rs2066619337
|
|
NM_001042492.3(NF1):c.1298A>T (p.Tyr433Phe)
|
|
|
NM_001042492.3(NF1):c.129A>G (p.Leu43=)
|
rs759576680
|
|
NM_001042492.3(NF1):c.12C>T (p.His4=)
|
|
|
NM_001042492.3(NF1):c.1302T>A (p.Cys434Ter)
|
rs1555611570
|
|
NM_001042492.3(NF1):c.1303C>T (p.His435Tyr)
|
|
|
NM_001042492.3(NF1):c.1304A>G (p.His435Arg)
|
rs1555611571
|
|
NM_001042492.3(NF1):c.1307C>T (p.Ser436Leu)
|
rs755190083
|
|
NM_001042492.3(NF1):c.1307_1316del (p.Ser436fs)
|
rs1597688786
|
|
NM_001042492.3(NF1):c.1308G>T (p.Ser436=)
|
rs765425127
|
|
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>G (p.Leu439Arg)
|
|
|
NM_001042492.3(NF1):c.1317T>G (p.Leu439=)
|
|
|
NM_001042492.3(NF1):c.1319G>C (p.Arg440Pro)
|
|
|
NM_001042492.3(NF1):c.1322A>G (p.Asn441Ser)
|
rs370020114
|
|
NM_001042492.3(NF1):c.1325T>C (p.Met442Thr)
|
rs1555611580
|
|
NM_001042492.3(NF1):c.1329T>C (p.Phe443=)
|
rs1597688853
|
|
NM_001042492.3(NF1):c.1330G>C (p.Gly444Arg)
|
rs1162173842
|
|
NM_001042492.3(NF1):c.1330G>T (p.Gly444Cys)
|
|
|
NM_001042492.3(NF1):c.1331G>A (p.Gly444Asp)
|
rs1555611582
|
|
NM_001042492.3(NF1):c.1332T>C (p.Gly444=)
|
rs1597688871
|
|
NM_001042492.3(NF1):c.133A>C (p.Asn45His)
|
|
|
NM_001042492.3(NF1):c.1342C>T (p.His448Tyr)
|
rs1131691257
|
|
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.1352T>C (p.Val451Ala)
|
rs747466938
|
|
NM_001042492.3(NF1):c.1352T>G (p.Val451Gly)
|
rs747466938
|
|
NM_001042492.3(NF1):c.1353G>A (p.Val451=)
|
|
|
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>C (p.Gly453Ala)
|
|
|
NM_001042492.3(NF1):c.1358G>T (p.Gly453Val)
|
rs876660915
|
|
NM_001042492.3(NF1):c.1359T>C (p.Gly453=)
|
rs1555611595
|
|
NM_001042492.3(NF1):c.1361G>A (p.Cys454Tyr)
|
rs983914251
|
|
NM_001042492.3(NF1):c.1362_1364del (p.Cys454_Gly455delinsTer)
|
rs2143915068
|
|
NM_001042492.3(NF1):c.1365A>C (p.Gly455=)
|
rs1597688953
|
|
NM_001042492.3(NF1):c.1367C>T (p.Ala456Val)
|
rs1597688962
|
|
NM_001042492.3(NF1):c.1370A>T (p.His457Leu)
|
rs786202763
|
|
NM_001042492.3(NF1):c.1371C>A (p.His457Gln)
|
rs1318894606
|
|
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>T (p.Ala459Val)
|
rs1131691070
|
|
NM_001042492.3(NF1):c.1379T>C (p.Ile460Thr)
|
rs147417054
|
|
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.1386G>A (p.Met462Ile)
|
|
|
NM_001042492.3(NF1):c.1387G>C (p.Ala463Pro)
|
rs1555611607
|
|
NM_001042492.3(NF1):c.1389A>G (p.Ala463=)
|
rs1131923
|
|
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+1G>A
|
rs267604791
|
|
NM_001042492.3(NF1):c.1392+2del
|
rs1597689068
|
|
NM_001042492.3(NF1):c.1392+4A>G
|
rs1555611611
|
|
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.1393-2A>G
|
rs1555612266
|
|
NM_001042492.3(NF1):c.1393-2dup
|
rs1394021280
|
|
NM_001042492.3(NF1):c.13A>C (p.Arg5=)
|
|
|
NM_001042492.3(NF1):c.13A>G (p.Arg5Gly)
|
rs1598173775
|
|
NM_001042492.3(NF1):c.13A>T (p.Arg5Trp)
|
rs1598173775
|
|
NM_001042492.3(NF1):c.1400C>T (p.Thr467Ile)
|
rs1567841729
|
|
NM_001042492.3(NF1):c.1404T>A (p.Phe468Leu)
|
|
|
NM_001042492.3(NF1):c.1407A>G (p.Lys469=)
|
rs2143958833
|
|
NM_001042492.3(NF1):c.1408G>T (p.Glu470Ter)
|
rs1597698330
|
|
NM_001042492.3(NF1):c.141C>A (p.Ser47=)
|
|
|
NM_001042492.3(NF1):c.141C>T (p.Ser47=)
|
rs1597626009
|
|
NM_001042492.3(NF1):c.1421G>A (p.Ser474Asn)
|
rs2066785879
|
|
NM_001042492.3(NF1):c.1423del (p.Lys476fs)
|
|
|
NM_001042492.3(NF1):c.1428del (p.Lys476fs)
|
|
|
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.1431_1433delinsAT (p.Phe477fs)
|
|
|
NM_001042492.3(NF1):c.1433A>T (p.Lys478Ile)
|
|
|
NM_001042492.3(NF1):c.1435_1438del (p.Glu479fs)
|
|
|
NM_001042492.3(NF1):c.1438A>T (p.Lys480Ter)
|
rs2143959211
|
|
NM_001042492.3(NF1):c.1440_1441delinsG (p.Pro481fs)
|
|
|
NM_001042492.3(NF1):c.1441C>G (p.Pro481Ala)
|
|
|
NM_001042492.3(NF1):c.1442C>T (p.Pro481Leu)
|
rs1355572914
|
|
NM_001042492.3(NF1):c.1443T>C (p.Pro481=)
|
|
|
NM_001042492.3(NF1):c.1445C>T (p.Thr482Ile)
|
rs1004943800
|
|
NM_001042492.3(NF1):c.1446A>G (p.Thr482=)
|
|
|
NM_001042492.3(NF1):c.1447G>A (p.Asp483Asn)
|
|
|
NM_001042492.3(NF1):c.1450C>T (p.Leu484=)
|
rs876657544
|
|
NM_001042492.3(NF1):c.1450del (p.Leu484fs)
|
rs2143959373
|
|
NM_001042492.3(NF1):c.1452G>A (p.Leu484=)
|
rs2143959403
|
|
NM_001042492.3(NF1):c.1458A>C (p.Thr486=)
|
rs878853866
|
|
NM_001042492.3(NF1):c.1459A>G (p.Arg487Gly)
|
rs1597698420
|
|
NM_001042492.3(NF1):c.145T>C (p.Tyr49His)
|
|
|
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.1466A>C (p.Tyr489Ser)
|
|
|
NM_001042492.3(NF1):c.1467T>C (p.Tyr489=)
|
rs1567841799
|
|
NM_001042492.3(NF1):c.1467dup (p.Lys490Ter)
|
|
|
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.146dup (p.Tyr49Ter)
|
|
|
NM_001042492.3(NF1):c.1478T>G (p.Leu493Arg)
|
|
|
NM_001042492.3(NF1):c.1479C>T (p.Leu493=)
|
|
|
NM_001042492.3(NF1):c.1482G>A (p.Leu494=)
|
|
|
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.1492A>C (p.Lys498Gln)
|
|
|
NM_001042492.3(NF1):c.1493A>T (p.Lys498Ile)
|
|
|
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.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.1509T>C (p.Asp503=)
|
rs1597698493
|
|
NM_001042492.3(NF1):c.150G>A (p.Lys50=)
|
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.1515G>A (p.Lys505=)
|
rs1555612290
|
|
NM_001042492.3(NF1):c.1515G>C (p.Lys505Asn)
|
|
|
NM_001042492.3(NF1):c.1518C>T (p.Leu506=)
|
rs1597698504
|
|
NM_001042492.3(NF1):c.1522C>A (p.Leu508Ile)
|
|
|
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+1G>T
|
rs1060500331
|
|
NM_001042492.3(NF1):c.1527+1del
|
rs2143960866
|
|
NM_001042492.3(NF1):c.1527+2T>G
|
rs1064796700
|
|
NM_001042492.3(NF1):c.1527+2dup
|
rs1597698533
|
|
NM_001042492.3(NF1):c.1527+4_1527+7del
|
rs1555612294
|
|
NM_001042492.3(NF1):c.1527+4dup
|
|
|
NM_001042492.3(NF1):c.1527+5G>A
|
rs1060500352
|
|
NM_001042492.3(NF1):c.1527+5G>C
|
rs1060500352
|
|
NM_001042492.3(NF1):c.1527+675C>T
|
|
|
NM_001042492.3(NF1):c.1528-1G>T
|
rs876660595
|
|
NM_001042492.3(NF1):c.1528-2A>G
|
rs1368005133
|
|
NM_001042492.3(NF1):c.1528-3C>T
|
rs1060500294
|
|
NM_001042492.3(NF1):c.1531C>A (p.Pro511Thr)
|
|
|
NM_001042492.3(NF1):c.1533A>C (p.Pro511=)
|
rs1597703360
|
|
NM_001042492.3(NF1):c.1535G>T (p.Arg512Ile)
|
|
|
NM_001042492.3(NF1):c.1540C>T (p.Gln514Ter)
|
rs1316926587
|
|
NM_001042492.3(NF1):c.1541A>G (p.Gln514Arg)
|
rs775369084
|
|
NM_001042492.3(NF1):c.1542G>A (p.Gln514=)
|
|
|
NM_001042492.3(NF1):c.1545G>T (p.Gly515=)
|
rs876658203
|
|
NM_001042492.3(NF1):c.1546C>A (p.Pro516Thr)
|
|
|
NM_001042492.3(NF1):c.154_158del (p.Ser52fs)
|
|
|
NM_001042492.3(NF1):c.1551A>C (p.Glu517Asp)
|
|
|
NM_001042492.3(NF1):c.1560C>T (p.Gly520=)
|
rs112168406
|
|
NM_001042492.3(NF1):c.1565C>T (p.Thr522Ile)
|
|
|
NM_001042492.3(NF1):c.1570G>T (p.Glu524Ter)
|
rs1135402815
|
|
NM_001042492.3(NF1):c.1572del (p.Glu524fs)
|
rs1085307461
|
|
NM_001042492.3(NF1):c.1578T>A (p.Ile526=)
|
rs1597703458
|
|
NM_001042492.3(NF1):c.1584G>T (p.Gly528=)
|
rs2143986476
|
|
NM_001042492.3(NF1):c.1585C>T (p.Leu529Phe)
|
rs1135402816
|
|
NM_001042492.3(NF1):c.1587del (p.Val530fs)
|
|
|
NM_001042492.3(NF1):c.1594C>T (p.Leu532=)
|
rs2143986669
|
|
NM_001042492.3(NF1):c.1595T>G (p.Leu532Arg)
|
rs199474737
|
|
NM_001042492.3(NF1):c.1599C>T (p.Val533=)
|
rs369458366
|
|
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.1602T>C (p.Pro534=)
|
rs1205604823
|
|
NM_001042492.3(NF1):c.1609C>T (p.His537Tyr)
|
rs786203860
|
|
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.1611C>T (p.His537=)
|
rs1597703539
|
|
NM_001042492.3(NF1):c.1614G>A (p.Met538Ile)
|
|
|
NM_001042492.3(NF1):c.1623T>A (p.Ile541=)
|
rs1597703569
|
|
NM_001042492.3(NF1):c.1624G>A (p.Ala542Thr)
|
|
|
NM_001042492.3(NF1):c.1626T>C (p.Ala542=)
|
rs2143987218
|
|
NM_001042492.3(NF1):c.1630del (p.Glu544fs)
|
|
|
NM_001042492.3(NF1):c.1633G>C (p.Ala545Pro)
|
rs1567843945
|
|
NM_001042492.3(NF1):c.1633G>T (p.Ala545Ser)
|
|
|
NM_001042492.3(NF1):c.1636A>G (p.Met546Val)
|
rs2066877456
|
|
NM_001042492.3(NF1):c.1639G>T (p.Glu547Ter)
|
rs2066877587
|
|
NM_001042492.3(NF1):c.1641+4A>C
|
rs1597703610
|
|
NM_001042492.3(NF1):c.1641+4A>G
|
rs1597703610
|
|
NM_001042492.3(NF1):c.1641G>A (p.Glu547=)
|
|
|
NM_001042492.3(NF1):c.1642-3C>G
|
rs1597706610
|
|
NM_001042492.3(NF1):c.1642-449A>G
|
rs863224655
|
|
NM_001042492.3(NF1):c.1642-4T>C
|
rs786202197
|
|
NM_001042492.3(NF1):c.1642-5T>A
|
|
|
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.1647G>A (p.Leu549=)
|
rs774627695
|
|
NM_001042492.3(NF1):c.1647G>T (p.Leu549=)
|
rs774627695
|
|
NM_001042492.3(NF1):c.164T>C (p.Ile55Thr)
|
rs2065657050
|
|
NM_001042492.3(NF1):c.1650G>C (p.Leu550=)
|
rs1555613190
|
|
NM_001042492.3(NF1):c.1652T>C (p.Val551Ala)
|
rs113867817
|
|
NM_001042492.3(NF1):c.1653T>A (p.Val551=)
|
rs1060503902
|
|
NM_001042492.3(NF1):c.1657C>A (p.His553Asn)
|
|
|
NM_001042492.3(NF1):c.1657C>G (p.His553Asp)
|
|
|
NM_001042492.3(NF1):c.1658A>G (p.His553Arg)
|
rs1064794274
|
|
NM_001042492.3(NF1):c.1661A>G (p.Gln554Arg)
|
rs863224656
|
|
NM_001042492.3(NF1):c.1661A>T (p.Gln554Leu)
|
|
|
NM_001042492.3(NF1):c.1661_1663dup (p.Leu555Ter)
|
|
|
NM_001042492.3(NF1):c.1662G>A (p.Gln554=)
|
|
|
NM_001042492.3(NF1):c.1666G>C (p.Asp556His)
|
|
|
NM_001042492.3(NF1):c.1667A>G (p.Asp556Gly)
|
rs2144004099
|
|
NM_001042492.3(NF1):c.1667_1670del (p.Asp556fs)
|
rs1135402819
|
|
NM_001042492.3(NF1):c.1668T>C (p.Asp556=)
|
rs1597706678
|
|
NM_001042492.3(NF1):c.1668T>G (p.Asp556Glu)
|
|
|
NM_001042492.3(NF1):c.166del (p.Ser56fs)
|
|
|
NM_001042492.3(NF1):c.1670G>A (p.Ser557Asn)
|
rs1567845046
|
|
NM_001042492.3(NF1):c.1671C>T (p.Ser557=)
|
rs1440915203
|
|
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.1677T>C (p.Asp559=)
|
rs1209447028
|
|
NM_001042492.3(NF1):c.1677T>G (p.Asp559Glu)
|
|
|
NM_001042492.3(NF1):c.1678T>C (p.Leu560=)
|
|
|
NM_001042492.3(NF1):c.1685A>C (p.Asn562Thr)
|
rs1597706709
|
|
NM_001042492.3(NF1):c.1687C>A (p.Pro563Thr)
|
|
|
NM_001042492.3(NF1):c.1689T>C (p.Pro563=)
|
rs1445925500
|
|
NM_001042492.3(NF1):c.1690G>T (p.Asp564Tyr)
|
rs2144004484
|
|
NM_001042492.3(NF1):c.1696C>G (p.Pro566Ala)
|
rs2066928875
|
|
NM_001042492.3(NF1):c.1696C>T (p.Pro566Ser)
|
|
|
NM_001042492.3(NF1):c.1700T>C (p.Val567Ala)
|
rs2144004648
|
|
NM_001042492.3(NF1):c.1701A>C (p.Val567=)
|
|
|
NM_001042492.3(NF1):c.1702G>C (p.Glu568Gln)
|
|
|
NM_001042492.3(NF1):c.1705A>G (p.Thr569Ala)
|
|
|
NM_001042492.3(NF1):c.1707A>C (p.Thr569=)
|
|
|
NM_001042492.3(NF1):c.170G>A (p.Gly57Asp)
|
rs1555604925
|
|
NM_001042492.3(NF1):c.1710T>C (p.Phe570=)
|
rs1462741584
|
|
NM_001042492.3(NF1):c.1711del (p.Trp571fs)
|
rs1597706737
|
|
NM_001042492.3(NF1):c.1715A>G (p.Glu572Gly)
|
|
|
NM_001042492.3(NF1):c.1720A>G (p.Ser574Gly)
|
|
|
NM_001042492.3(NF1):c.1721+453T>G
|
|
|
NM_001042492.3(NF1):c.1721+542A>G
|
rs2066942173
|
|
NM_001042492.3(NF1):c.1721+5A>G
|
rs876658961
|
|
NM_001042492.3(NF1):c.1721G>A (p.Ser574Asn)
|
rs1555613206
|
|
NM_001042492.3(NF1):c.1722-14_1722-5del
|
rs2144015153
|
|
NM_001042492.3(NF1):c.1722-19_1722-13del
|
|
|
NM_001042492.3(NF1):c.1722-1G>A
|
rs1567845818
|
|
NM_001042492.3(NF1):c.1722-26T>C
|
rs1597708542
|
|
NM_001042492.3(NF1):c.1722-29T>C
|
|
|
NM_001042492.3(NF1):c.1722C>G (p.Ser574Arg)
|
rs2144015494
|
|
NM_001042492.3(NF1):c.1724C>G (p.Ser575Ter)
|
rs915463951
|
|
NM_001042492.3(NF1):c.1726C>T (p.Gln576Ter)
|
rs1060500278
|
|
NM_001042492.3(NF1):c.1728A>G (p.Gln576=)
|
rs1057523206
|
|
NM_001042492.3(NF1):c.1729del (p.Met577fs)
|
|
|
NM_001042492.3(NF1):c.172C>G (p.Leu58Val)
|
|
|
NM_001042492.3(NF1):c.1733T>C (p.Leu578Pro)
|
rs199474774
|
|
NM_001042492.3(NF1):c.1733T>G (p.Leu578Arg)
|
rs199474774
|
|
NM_001042492.3(NF1):c.1737T>C (p.Phe579=)
|
rs1555613411
|
|
NM_001042492.3(NF1):c.173T>G (p.Leu58Arg)
|
rs1597626094
|
|
NM_001042492.3(NF1):c.1743C>T (p.Ile581=)
|
|
|
NM_001042492.3(NF1):c.1747A>G (p.Lys583Glu)
|
|
|
NM_001042492.3(NF1):c.1748A>G (p.Lys583Arg)
|
rs199474760
|
|
NM_001042492.3(NF1):c.174C>T (p.Leu58=)
|
rs2065657421
|
|
NM_001042492.3(NF1):c.1754del (p.Lys584_Leu585insTer)
|
|
|
NM_001042492.3(NF1):c.1755A>C (p.Leu585Phe)
|
|
|
NM_001042492.3(NF1):c.1755A>G (p.Leu585=)
|
rs1597708685
|
|
NM_001042492.3(NF1):c.1756_1759del (p.Thr586fs)
|
rs786202782
|
|
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.1759dup (p.Ser587fs)
|
|
|
NM_001042492.3(NF1):c.1761_1762del (p.Ser587fs)
|
|
|
NM_001042492.3(NF1):c.1762C>T (p.His588Tyr)
|
|
|
NM_001042492.3(NF1):c.1764T>C (p.His588=)
|
rs1229784876
|
|
NM_001042492.3(NF1):c.1766A>T (p.Gln589Leu)
|
|
|
NM_001042492.3(NF1):c.1767A>G (p.Gln589=)
|
rs2144016279
|
|
NM_001042492.3(NF1):c.1767A>T (p.Gln589His)
|
|
|
NM_001042492.3(NF1):c.176CTA[1] (p.Thr60del)
|
rs2143627187
|
|
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.1779C>T (p.Ser593=)
|
|
|
NM_001042492.3(NF1):c.1788T>C (p.Ile596=)
|
|
|
NM_001042492.3(NF1):c.1788del (p.Leu597fs)
|
|
|
NM_001042492.3(NF1):c.1789C>T (p.Leu597Phe)
|
rs2066963329
|
|
NM_001042492.3(NF1):c.1791C>G (p.Leu597=)
|
rs1597708736
|
|
NM_001042492.3(NF1):c.1791C>T (p.Leu597=)
|
|
|
NM_001042492.3(NF1):c.1796G>A (p.Trp599Ter)
|
rs1131691130
|
|
NM_001042492.3(NF1):c.179C>G (p.Thr60Ser)
|
rs1007047958
|
|
NM_001042492.3(NF1):c.179C>T (p.Thr60Ile)
|
|
|
NM_001042492.3(NF1):c.17C>A (p.Pro6Gln)
|
|
|
NM_001042492.3(NF1):c.17C>T (p.Pro6Leu)
|
rs864622210
|
|
NM_001042492.3(NF1):c.1801C>A (p.Arg601=)
|
rs587782592
|
|
NM_001042492.3(NF1):c.1801C>G (p.Arg601Gly)
|
|
|
NM_001042492.3(NF1):c.1802G>A (p.Arg601Gln)
|
rs1060500288
|
|
NM_001042492.3(NF1):c.1805A>T (p.Glu602Val)
|
rs1597708772
|
|
NM_001042492.3(NF1):c.180T>C (p.Thr60=)
|
rs1597626116
|
|
NM_001042492.3(NF1):c.1811T>A (p.Leu604Ter)
|
rs1555613427
|
|
NM_001042492.3(NF1):c.1812G>A (p.Leu604=)
|
rs2066963883
|
|
NM_001042492.3(NF1):c.1813A>G (p.Ile605Val)
|
rs2144016888
|
|
NM_001042492.3(NF1):c.1817G>A (p.Cys606Tyr)
|
|
|
NM_001042492.3(NF1):c.1817G>T (p.Cys606Phe)
|
|
|
NM_001042492.3(NF1):c.1818C>A (p.Cys606Ter)
|
rs1567845937
|
|
NM_001042492.3(NF1):c.1818C>T (p.Cys606=)
|
rs1567845937
|
|
NM_001042492.3(NF1):c.1831C>T (p.Leu611Phe)
|
|
|
NM_001042492.3(NF1):c.1839_1844del (p.Asn614_Lys615del)
|
rs1597708816
|
|
NM_001042492.3(NF1):c.1845+1G>A
|
rs1567845945
|
|
NM_001042492.3(NF1):c.1845+1G>T
|
|
|
NM_001042492.3(NF1):c.1845+2T>G
|
|
|
NM_001042492.3(NF1):c.1845+3A>G
|
|
|
NM_001042492.3(NF1):c.1845+5G>A
|
|
|
NM_001042492.3(NF1):c.1845G>A (p.Lys615=)
|
rs1131691080
|
|
NM_001042492.3(NF1):c.1846-3T>C
|
rs1555613541
|
|
NM_001042492.3(NF1):c.1846-569A>C
|
|
|
NM_001042492.3(NF1):c.1846-5dup
|
rs779012139
|
|
NM_001042492.3(NF1):c.1846C>G (p.Gln616Glu)
|
rs1555613543
|
|
NM_001042492.3(NF1):c.1852G>A (p.Asp618Asn)
|
|
|
NM_001042492.3(NF1):c.1854T>C (p.Asp618=)
|
|
|
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.1862C>A (p.Ser621Tyr)
|
|
|
NM_001042492.3(NF1):c.1862C>T (p.Ser621Phe)
|
rs760346063
|
|
NM_001042492.3(NF1):c.1864T>G (p.Cys622Gly)
|
|
|
NM_001042492.3(NF1):c.1866T>A (p.Cys622Ter)
|
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>T (p.His623=)
|
rs1555613556
|
|
NM_001042492.3(NF1):c.186A>G (p.Leu62=)
|
|
|
NM_001042492.3(NF1):c.1871T>C (p.Phe624Ser)
|
rs1597710397
|
|
NM_001042492.3(NF1):c.1874T>A (p.Leu625His)
|
|
|
NM_001042492.3(NF1):c.1876del (p.Leu626fs)
|
rs1597710409
|
|
NM_001042492.3(NF1):c.1877T>C (p.Leu626Pro)
|
rs752591958
|
|
NM_001042492.3(NF1):c.1882dup (p.Tyr628fs)
|
rs1555613558
|
|
NM_001042492.3(NF1):c.1884C>A (p.Tyr628Ter)
|
rs555635097
|
|
NM_001042492.3(NF1):c.1884_1885delinsTAA (p.Gly629fs)
|
|
|
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.1890A>G (p.Val630=)
|
rs2144026306
|
|
NM_001042492.3(NF1):c.1892G>A (p.Gly631Glu)
|
rs876660272
|
|
NM_001042492.3(NF1):c.1892G>T (p.Gly631Val)
|
rs876660272
|
|
NM_001042492.3(NF1):c.1893A>G (p.Gly631=)
|
rs1597710471
|
|
NM_001042492.3(NF1):c.1893A>T (p.Gly631=)
|
rs1597710471
|
|
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.18G>T (p.Pro6=)
|
|
|
NM_001042492.3(NF1):c.1902_1959dup (p.Pro654delinsSerPheTer)
|
|
|
NM_001042492.3(NF1):c.1907dup (p.Ser636_Ser637insTer)
|
|
|
NM_001042492.3(NF1):c.1910G>C (p.Ser637Thr)
|
rs749745247
|
|
NM_001042492.3(NF1):c.1911T>C (p.Ser637=)
|
|
|
NM_001042492.3(NF1):c.1911T>G (p.Ser637Arg)
|
rs1456848774
|
|
NM_001042492.3(NF1):c.1916A>G (p.Asn639Ser)
|
rs1060500275
|
|
NM_001042492.3(NF1):c.1917dup (p.Thr640fs)
|
|
|
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.191del (p.Asn64fs)
|
rs1555604941
|
|
NM_001042492.3(NF1):c.1923T>A (p.Ser641Arg)
|
rs1555613576
|
|
NM_001042492.3(NF1):c.1923T>C (p.Ser641=)
|
|
|
NM_001042492.3(NF1):c.1929G>A (p.Met643Ile)
|
rs2144026901
|
|
NM_001042492.3(NF1):c.1929_1932del (p.Met643fs)
|
|
|
NM_001042492.3(NF1):c.1930T>C (p.Ser644Pro)
|
|
|
NM_001042492.3(NF1):c.1934dup (p.Met645fs)
|
|
|
NM_001042492.3(NF1):c.1935G>A (p.Met645Ile)
|
rs1597710605
|
|
NM_001042492.3(NF1):c.1939C>T (p.His647Tyr)
|
rs776251084
|
|
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>C (p.His647=)
|
rs1397958327
|
|
NM_001042492.3(NF1):c.1948T>C (p.Leu650=)
|
rs1597710638
|
|
NM_001042492.3(NF1):c.1949TAC[1] (p.Leu651del)
|
|
|
NM_001042492.3(NF1):c.1950A>C (p.Leu650Phe)
|
rs1597710650
|
|
NM_001042492.3(NF1):c.1951C>T (p.Leu651=)
|
rs1555613590
|
|
NM_001042492.3(NF1):c.1953A>G (p.Leu651=)
|
rs1298717179
|
|
NM_001042492.3(NF1):c.1954C>G (p.Arg652Gly)
|
|
|
NM_001042492.3(NF1):c.1954C>T (p.Arg652Cys)
|
rs786202436
|
|
NM_001042492.3(NF1):c.1954del (p.Arg652fs)
|
rs1597710675
|
|
NM_001042492.3(NF1):c.1955del (p.Arg652fs)
|
rs1597710690
|
|
NM_001042492.3(NF1):c.1960C>A (p.Pro654Thr)
|
rs765281937
|
|
NM_001042492.3(NF1):c.1960C>T (p.Pro654Ser)
|
rs765281937
|
|
NM_001042492.3(NF1):c.1961C>T (p.Pro654Leu)
|
rs1597710728
|
|
NM_001042492.3(NF1):c.1962T>C (p.Pro654=)
|
rs1555613595
|
|
NM_001042492.3(NF1):c.1962T>G (p.Pro654=)
|
rs1555613595
|
|
NM_001042492.3(NF1):c.1964G>A (p.Gly655Glu)
|
|
|
NM_001042492.3(NF1):c.1964G>C (p.Gly655Ala)
|
rs1555613596
|
|
NM_001042492.3(NF1):c.1965A>G (p.Gly655=)
|
rs2144027490
|
|
NM_001042492.3(NF1):c.1966G>A (p.Ala656Thr)
|
rs1555613598
|
|
NM_001042492.3(NF1):c.1966G>T (p.Ala656Ser)
|
|
|
NM_001042492.3(NF1):c.1970C>T (p.Ser657Phe)
|
|
|
NM_001042492.3(NF1):c.1976G>T (p.Arg659Leu)
|
|
|
NM_001042492.3(NF1):c.1977G>A (p.Arg659=)
|
rs1597710788
|
|
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.1985_1986del (p.Lys662fs)
|
rs2066993468
|
|
NM_001042492.3(NF1):c.1986A>G (p.Lys662=)
|
rs2144027825
|
|
NM_001042492.3(NF1):c.1994_2001+7del
|
|
|
NM_001042492.3(NF1):c.1995del (p.Ser666fs)
|
rs2066993840
|
|
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.1998T>C (p.Ser666=)
|
rs1567846823
|
|
NM_001042492.3(NF1):c.19G>A (p.Val7Met)
|
rs1911552278
|
|
NM_001042492.3(NF1):c.1A>G (p.Met1Val)
|
rs1060500252
|
|
NM_001042492.3(NF1):c.1A>T (p.Met1Leu)
|
rs1060500252
|
|
NM_001042492.3(NF1):c.2001+4A>G
|
|
|
NM_001042492.3(NF1):c.2001+5G>A
|
|
|
NM_001042492.3(NF1):c.2001G>A (p.Met667Ile)
|
rs1597710853
|
|
NM_001042492.3(NF1):c.2002-2A>C
|
rs1555613741
|
|
NM_001042492.3(NF1):c.2002-4_2002-3del
|
rs786203664
|
|
NM_001042492.3(NF1):c.2002-5C>G
|
rs1165625614
|
|
NM_001042492.3(NF1):c.2002G>A (p.Asp668Asn)
|
rs1445299269
|
|
NM_001042492.3(NF1):c.2002G>C (p.Asp668His)
|
|
|
NM_001042492.3(NF1):c.2007T>C (p.Ser669=)
|
rs750622783
|
|
NM_001042492.3(NF1):c.2007_2010dup (p.Ala671fs)
|
|
|
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>T (p.Gly672Val)
|
rs371817372
|
|
NM_001042492.3(NF1):c.2016A>C (p.Gly672=)
|
|
|
NM_001042492.3(NF1):c.2016_2031del (p.Cys673fs)
|
|
|
NM_001042492.3(NF1):c.2018G>A (p.Cys673Tyr)
|
rs878853872
|
|
NM_001042492.3(NF1):c.201T>C (p.Asn67=)
|
|
|
NM_001042492.3(NF1):c.2020A>G (p.Ser674Gly)
|
rs1555613753
|
|
NM_001042492.3(NF1):c.2023G>T (p.Gly675Ter)
|
|
|
NM_001042492.3(NF1):c.2025A>G (p.Gly675=)
|
|
|
NM_001042492.3(NF1):c.2027C>A (p.Thr676Asn)
|
|
|
NM_001042492.3(NF1):c.2027C>G (p.Thr676Ser)
|
|
|
NM_001042492.3(NF1):c.2027C>T (p.Thr676Ile)
|
rs1294581001
|
|
NM_001042492.3(NF1):c.2028C>A (p.Thr676=)
|
rs878853873
|
|
NM_001042492.3(NF1):c.2028C>G (p.Thr676=)
|
rs878853873
|
|
NM_001042492.3(NF1):c.2031C>G (p.Pro677=)
|
rs753177596
|
|
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_2034delinsA (p.Pro678fs)
|
rs2151425601
|
|
NM_001042492.3(NF1):c.2033_2034delinsTA (p.Pro678Leu)
|
rs1597712334
|
|
NM_001042492.3(NF1):c.2034G>T (p.Pro678=)
|
rs2285892
|
|
NM_001042492.3(NF1):c.2034del (p.Ile679fs)
|
rs1567847384
|
|
NM_001042492.3(NF1):c.2034delinsCA (p.Ile679fs)
|
rs1064796331
|
|
NM_001042492.3(NF1):c.2035A>G (p.Ile679Val)
|
|
|
NM_001042492.3(NF1):c.2036_2043dup (p.Gln682fs)
|
rs2151425597
|
|
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+1G>A
|
rs886039548
|
|
NM_001042492.3(NF1):c.204+1G>T
|
rs886039548
|
|
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+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>G (p.Gln682Glu)
|
|
|
NM_001042492.3(NF1):c.2047G>A (p.Ala683Thr)
|
rs2151425636
|
|
NM_001042492.3(NF1):c.2047_2057dup (p.Leu687fs)
|
rs1597712403
|
|
NM_001042492.3(NF1):c.204G>A (p.Met68Ile)
|
rs1441153485
|
|
NM_001042492.3(NF1):c.205-16A>G
|
rs2143645089
|
|
NM_001042492.3(NF1):c.205-1G>A
|
rs1555605362
|
|
NM_001042492.3(NF1):c.205-31_205-28del
|
|
|
NM_001042492.3(NF1):c.205-3_205-2del
|
|
|
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>T (p.Leu687=)
|
rs1597712422
|
|
NM_001042492.3(NF1):c.2060T>A (p.Leu687Gln)
|
|
|
NM_001042492.3(NF1):c.2061A>C (p.Leu687=)
|
rs143671377
|
|
NM_001042492.3(NF1):c.2062G>C (p.Glu688Gln)
|
rs1555613784
|
|
NM_001042492.3(NF1):c.2068G>A (p.Ala690Thr)
|
|
|
NM_001042492.3(NF1):c.2068G>T (p.Ala690Ser)
|
|
|
NM_001042492.3(NF1):c.206G>T (p.Arg69Ile)
|
rs1216707810
|
|
NM_001042492.3(NF1):c.2070C>T (p.Ala690=)
|
rs2151425696
|
|
NM_001042492.3(NF1):c.2072T>C (p.Leu691Pro)
|
rs1131691132
|
|
NM_001042492.3(NF1):c.2075A>T (p.Tyr692Phe)
|
rs1555613792
|
|
NM_001042492.3(NF1):c.2077A>G (p.Met693Val)
|
rs1555613794
|
|
NM_001042492.3(NF1):c.2079G>A (p.Met693Ile)
|
|
|
NM_001042492.3(NF1):c.207A>G (p.Arg69=)
|
|
|
NM_001042492.3(NF1):c.2080T>C (p.Phe694Leu)
|
rs1597712476
|
|
NM_001042492.3(NF1):c.2084T>C (p.Leu695Pro)
|
rs199474761
|
|
NM_001042492.3(NF1):c.2085G>A (p.Leu695=)
|
rs1060503889
|
|
NM_001042492.3(NF1):c.2094T>A (p.Pro698=)
|
|
|
NM_001042492.3(NF1):c.2094T>C (p.Pro698=)
|
rs1555613798
|
|
NM_001042492.3(NF1):c.2095G>C (p.Asp699His)
|
|
|
NM_001042492.3(NF1):c.2098A>G (p.Thr700Ala)
|
rs1555613801
|
|
NM_001042492.3(NF1):c.2098del (p.Thr700fs)
|
|
|
NM_001042492.3(NF1):c.2100T>C (p.Thr700=)
|
|
|
NM_001042492.3(NF1):c.2102A>C (p.Glu701Ala)
|
|
|
NM_001042492.3(NF1):c.2103A>G (p.Glu701=)
|
rs2151425793
|
|
NM_001042492.3(NF1):c.2109_2122del (p.Val705fs)
|
|
|
NM_001042492.3(NF1):c.2110C>G (p.Leu704Val)
|
rs1597712521
|
|
NM_001042492.3(NF1):c.2110C>T (p.Leu704=)
|
|
|
NM_001042492.3(NF1):c.2111T>C (p.Leu704Pro)
|
|
|
NM_001042492.3(NF1):c.2112G>A (p.Leu704=)
|
|
|
NM_001042492.3(NF1):c.2115T>A (p.Val705=)
|
|
|
NM_001042492.3(NF1):c.2115T>C (p.Val705=)
|
|
|
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.2119A>C (p.Met707Leu)
|
|
|
NM_001042492.3(NF1):c.2120T>C (p.Met707Thr)
|
|
|
NM_001042492.3(NF1):c.2125T>C (p.Cys709Arg)
|
rs1131691095
|
|
NM_001042492.3(NF1):c.2126G>T (p.Cys709Phe)
|
|
|
NM_001042492.3(NF1):c.2128T>G (p.Phe710Val)
|
|
|
NM_001042492.3(NF1):c.2130C>T (p.Phe710=)
|
rs1555613806
|
|
NM_001042492.3(NF1):c.2131C>T (p.Arg711Cys)
|
rs1400902839
|
|
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>T (p.His712=)
|
rs1597712580
|
|
NM_001042492.3(NF1):c.2136_2142del (p.His712fs)
|
rs1555613811
|
|
NM_001042492.3(NF1):c.2142T>A (p.Cys714Ter)
|
rs141382637
|
|
NM_001042492.3(NF1):c.2142T>C (p.Cys714=)
|
rs141382637
|
|
NM_001042492.3(NF1):c.2144A>T (p.Glu715Val)
|
rs2067018762
|
|
NM_001042492.3(NF1):c.214G>A (p.Gly72Arg)
|
|
|
NM_001042492.3(NF1):c.2151A>G (p.Ala717=)
|
|
|
NM_001042492.3(NF1):c.2155A>G (p.Ile719Val)
|
|
|
NM_001042492.3(NF1):c.2157C>A (p.Ile719=)
|
|
|
NM_001042492.3(NF1):c.2158C>T (p.Arg720Trp)
|
rs759679443
|
|
NM_001042492.3(NF1):c.2158del (p.Arg720fs)
|
rs1597712619
|
|
NM_001042492.3(NF1):c.215G>C (p.Gly72Ala)
|
|
|
NM_001042492.3(NF1):c.2160G>A (p.Arg720=)
|
rs765339408
|
|
NM_001042492.3(NF1):c.2160G>T (p.Arg720=)
|
rs765339408
|
|
NM_001042492.3(NF1):c.2160dup (p.Cys721fs)
|
|
|
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>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.2166_2170del (p.Gly722_Val723insTer)
|
|
|
NM_001042492.3(NF1):c.2169G>A (p.Val723=)
|
rs2151425959
|
|
NM_001042492.3(NF1):c.2175A>G (p.Glu725=)
|
rs1555613817
|
|
NM_001042492.3(NF1):c.2177T>G (p.Val726Gly)
|
|
|
NM_001042492.3(NF1):c.2186A>T (p.His729Leu)
|
|
|
NM_001042492.3(NF1):c.2188A>C (p.Asn730His)
|
rs758893131
|
|
NM_001042492.3(NF1):c.2189dup (p.Asn730fs)
|
|
|
NM_001042492.3(NF1):c.2192T>C (p.Leu731Pro)
|
|
|
NM_001042492.3(NF1):c.2198C>T (p.Pro733Leu)
|
|
|
NM_001042492.3(NF1):c.2199C>A (p.Pro733=)
|
rs1555613826
|
|
NM_001042492.3(NF1):c.2201_2215del (p.Asn734_Phe738del)
|
|
|
NM_001042492.3(NF1):c.2206A>C (p.Asn736His)
|
rs1567847621
|
|
NM_001042492.3(NF1):c.2208C>T (p.Asn736=)
|
rs1597712710
|
|
NM_001042492.3(NF1):c.2209A>G (p.Thr737Ala)
|
|
|
NM_001042492.3(NF1):c.2212T>A (p.Phe738Ile)
|
|
|
NM_001042492.3(NF1):c.221C>T (p.Ala74Val)
|
rs199474726
|
|
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.2226C>G (p.Ala742=)
|
rs1060503912
|
|
NM_001042492.3(NF1):c.2229dup (p.Val744fs)
|
rs2067020544
|
|
NM_001042492.3(NF1):c.2230G>A (p.Val744Ile)
|
rs786201833
|
|
NM_001042492.3(NF1):c.2232C>T (p.Val744=)
|
rs748865537
|
|
NM_001042492.3(NF1):c.2233A>G (p.Ser745Gly)
|
rs786201865
|
|
NM_001042492.3(NF1):c.2235C>T (p.Ser745=)
|
rs1060503901
|
|
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.2241G>A (p.Met747Ile)
|
rs1597712751
|
|
NM_001042492.3(NF1):c.2244G>A (p.Met748Ile)
|
rs786202478
|
|
NM_001042492.3(NF1):c.2247A>G (p.Ser749=)
|
|
|
NM_001042492.3(NF1):c.2251+11A>G
|
|
|
NM_001042492.3(NF1):c.2251+1G>A
|
rs1555613843
|
|
NM_001042492.3(NF1):c.2251+2T>G
|
rs864622142
|
|
NM_001042492.3(NF1):c.2251+3A>C
|
|
|
NM_001042492.3(NF1):c.2251+4A>T
|
rs2067021300
|
|
NM_001042492.3(NF1):c.2251G>A (p.Gly751Arg)
|
rs1567847681
|
|
NM_001042492.3(NF1):c.2252-3T>G
|
rs1057518842
|
|
NM_001042492.3(NF1):c.2252G>C (p.Gly751Ala)
|
|
|
NM_001042492.3(NF1):c.2252G>T (p.Gly751Val)
|
|
|
NM_001042492.3(NF1):c.2255G>C (p.Arg752Thr)
|
|
|
NM_001042492.3(NF1):c.2258C>A (p.Ala753Glu)
|
|
|
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.2262A>T (p.Ala754=)
|
|
|
NM_001042492.3(NF1):c.2266C>T (p.Gln756Ter)
|
rs1567847905
|
|
NM_001042492.3(NF1):c.2271A>T (p.Lys757Asn)
|
rs1555613916
|
|
NM_001042492.3(NF1):c.2274A>G (p.Arg758=)
|
|
|
NM_001042492.3(NF1):c.2274_2275del (p.Arg758fs)
|
rs2151426874
|
|
NM_001042492.3(NF1):c.2275G>C (p.Val759Leu)
|
|
|
NM_001042492.3(NF1):c.2275G>T (p.Val759Leu)
|
rs978948341
|
|
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.2283A>G (p.Ala761=)
|
|
|
NM_001042492.3(NF1):c.2287C>G (p.Leu763Val)
|
rs1597713340
|
|
NM_001042492.3(NF1):c.2293del (p.Arg765fs)
|
rs1597713360
|
|
NM_001042492.3(NF1):c.2294G>T (p.Arg765Leu)
|
rs199474777
|
|
NM_001042492.3(NF1):c.2294_2295del (p.Arg765fs)
|
rs2067031470
|
|
NM_001042492.3(NF1):c.2294del (p.Arg765fs)
|
rs2151426934
|
|
NM_001042492.3(NF1):c.2304T>G (p.His768Gln)
|
rs1597713390
|
|
NM_001042492.3(NF1):c.2308A>T (p.Thr770Ser)
|
|
|
NM_001042492.3(NF1):c.2312C>T (p.Ala771Val)
|
rs1555613928
|
|
NM_001042492.3(NF1):c.2313A>G (p.Ala771=)
|
|
|
NM_001042492.3(NF1):c.2320A>G (p.Thr774Ala)
|
rs2151427000
|
|
NM_001042492.3(NF1):c.2321C>T (p.Thr774Ile)
|
rs917302286
|
|
NM_001042492.3(NF1):c.2322T>C (p.Thr774=)
|
rs770111990
|
|
NM_001042492.3(NF1):c.2325+1G>A
|
rs1555613933
|
|
NM_001042492.3(NF1):c.2325+3A>G
|
rs1057517848
|
|
NM_001042492.3(NF1):c.2325+4T>C
|
rs1555613934
|
|
NM_001042492.3(NF1):c.2325+5G>T
|
rs1597713425
|
|
NM_001042492.3(NF1):c.2325G>A (p.Glu775=)
|
rs1555613932
|
|
NM_001042492.3(NF1):c.2326-2A>G
|
rs1555613975
|
|
NM_001042492.3(NF1):c.2326-5T>A
|
rs1131691086
|
|
NM_001042492.3(NF1):c.2326-5T>C
|
rs1131691086
|
|
NM_001042492.3(NF1):c.2326-5T>G
|
|
|
NM_001042492.3(NF1):c.2326G>T (p.Ala776Ser)
|
rs199474771
|
|
NM_001042492.3(NF1):c.2328T>A (p.Ala776=)
|
|
|
NM_001042492.3(NF1):c.2328T>G (p.Ala776=)
|
rs1555613978
|
|
NM_001042492.3(NF1):c.2329T>A (p.Trp777Arg)
|
rs876658853
|
|
NM_001042492.3(NF1):c.2329T>C (p.Trp777Arg)
|
rs876658853
|
|
NM_001042492.3(NF1):c.232_234del (p.Asn78del)
|
rs1555605367
|
|
NM_001042492.3(NF1):c.2330G>A (p.Trp777Ter)
|
rs199474745
|
|
NM_001042492.3(NF1):c.2330G>C (p.Trp777Ser)
|
rs199474745
|
|
NM_001042492.3(NF1):c.2336A>T (p.Asp779Val)
|
|
|
NM_001042492.3(NF1):c.2337T>G (p.Asp779Glu)
|
rs1555613989
|
|
NM_001042492.3(NF1):c.2338A>C (p.Thr780Pro)
|
rs1205746953
|
|
NM_001042492.3(NF1):c.2338A>G (p.Thr780Ala)
|
rs1205746953
|
|
NM_001042492.3(NF1):c.2339C>A (p.Thr780Lys)
|
rs199474746
|
|
NM_001042492.3(NF1):c.2339C>G (p.Thr780Arg)
|
rs199474746
|
|
NM_001042492.3(NF1):c.233A>G (p.Asn78Ser)
|
rs561555410
|
|
NM_001042492.3(NF1):c.2341C>T (p.His781Tyr)
|
rs1443362216
|
|
NM_001042492.3(NF1):c.2344G>T (p.Ala782Ser)
|
rs1352143970
|
|
NM_001042492.3(NF1):c.2346A>G (p.Ala782=)
|
rs1201234374
|
|
NM_001042492.3(NF1):c.234T>A (p.Asn78Lys)
|
rs876658354
|
|
NM_001042492.3(NF1):c.2352G>T (p.Trp784Cys)
|
|
|
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.2357A>G (p.Gln786Arg)
|
|
|
NM_001042492.3(NF1):c.2361A>C (p.Ala787=)
|
|
|
NM_001042492.3(NF1):c.2370A>G (p.Leu790=)
|
|
|
NM_001042492.3(NF1):c.2370A>T (p.Leu790=)
|
|
|
NM_001042492.3(NF1):c.2373C>A (p.Ile791=)
|
rs1033227891
|
|
NM_001042492.3(NF1):c.2373C>T (p.Ile791=)
|
rs1033227891
|
|
NM_001042492.3(NF1):c.2374C>T (p.Leu792Phe)
|
rs1555614005
|
|
NM_001042492.3(NF1):c.2379C>T (p.Asn793=)
|
rs1555614006
|
|
NM_001042492.3(NF1):c.237A>G (p.Leu79=)
|
rs752208826
|
|
NM_001042492.3(NF1):c.237A>T (p.Leu79Phe)
|
rs752208826
|
|
NM_001042492.3(NF1):c.2385A>G (p.Pro795=)
|
rs1555614009
|
|
NM_001042492.3(NF1):c.2388dup (p.Ala797fs)
|
rs1555614011
|
|
NM_001042492.3(NF1):c.2389G>A (p.Ala797Thr)
|
|
|
NM_001042492.3(NF1):c.2390C>T (p.Ala797Val)
|
rs1181350360
|
|
NM_001042492.3(NF1):c.2391C>G (p.Ala797=)
|
|
|
NM_001042492.3(NF1):c.2392A>G (p.Lys798Glu)
|
rs1135402830
|
|
NM_001042492.3(NF1):c.2393A>G (p.Lys798Arg)
|
|
|
NM_001042492.3(NF1):c.2394A>G (p.Lys798=)
|
rs1597713814
|
|
NM_001042492.3(NF1):c.2395A>T (p.Met799Leu)
|
rs1060500317
|
|
NM_001042492.3(NF1):c.2395del (p.Met799fs)
|
|
|
NM_001042492.3(NF1):c.2398G>T (p.Glu800Ter)
|
rs2151427599
|
|
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.239_240del (p.Tyr80fs)
|
|
|
NM_001042492.3(NF1):c.2403T>C (p.Asp801=)
|
|
|
NM_001042492.3(NF1):c.2405G>A (p.Gly802Asp)
|
rs752404130
|
|
NM_001042492.3(NF1):c.2407C>G (p.Gln803Glu)
|
|
|
NM_001042492.3(NF1):c.2408A>C (p.Gln803Pro)
|
|
|
NM_001042492.3(NF1):c.2409+1G>A
|
rs1555614022
|
|
NM_001042492.3(NF1):c.2409+1G>C
|
rs1555614022
|
|
NM_001042492.3(NF1):c.2409+1G>T
|
rs1555614022
|
|
NM_001042492.3(NF1):c.2409+3A>G
|
|
|
NM_001042492.3(NF1):c.2409+4A>G
|
rs536864173
|
|
NM_001042492.3(NF1):c.240T>G (p.Tyr80Ter)
|
|
|
NM_001042492.3(NF1):c.2410-1G>A
|
rs1057518792
|
|
NM_001042492.3(NF1):c.2410-1G>C
|
rs1057518792
|
|
NM_001042492.3(NF1):c.2410G>C (p.Ala804Pro)
|
rs761109477
|
|
NM_001042492.3(NF1):c.2412T>C (p.Ala804=)
|
rs2151428788
|
|
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.2424T>C (p.Leu808=)
|
|
|
NM_001042492.3(NF1):c.2428A>G (p.Lys810Glu)
|
rs2151428832
|
|
NM_001042492.3(NF1):c.2429_2493del (p.Lys810fs)
|
rs1597715102
|
|
NM_001042492.3(NF1):c.2431A>G (p.Thr811Ala)
|
|
|
NM_001042492.3(NF1):c.2439T>A (p.Val813=)
|
|
|
NM_001042492.3(NF1):c.243C>T (p.Leu81=)
|
rs1597629805
|
|
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.2443A>G (p.Arg815Gly)
|
|
|
NM_001042492.3(NF1):c.2444G>A (p.Arg815Lys)
|
rs1597715123
|
|
NM_001042492.3(NF1):c.2444G>C (p.Arg815Thr)
|
|
|
NM_001042492.3(NF1):c.2446C>G (p.Arg816Gly)
|
|
|
NM_001042492.3(NF1):c.2446C>T (p.Arg816Ter)
|
rs886041347
|
|
NM_001042492.3(NF1):c.2448A>G (p.Arg816=)
|
|
|
NM_001042492.3(NF1):c.244_247del (p.Ser82_Gln83insTer)
|
rs771115661
|
|
NM_001042492.3(NF1):c.2450T>C (p.Met817Thr)
|
rs1597715147
|
|
NM_001042492.3(NF1):c.2454C>T (p.Ser818=)
|
rs763634947
|
|
NM_001042492.3(NF1):c.2455C>T (p.His819Tyr)
|
rs1597715162
|
|
NM_001042492.3(NF1):c.2456A>G (p.His819Arg)
|
rs786202297
|
|
NM_001042492.3(NF1):c.2457T>C (p.His819=)
|
rs976466916
|
|
NM_001042492.3(NF1):c.2460G>A (p.Val820=)
|
rs1216764866
|
|
NM_001042492.3(NF1):c.2462G>A (p.Ser821Asn)
|
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.2465G>A (p.Gly822Glu)
|
|
|
NM_001042492.3(NF1):c.2467G>A (p.Gly823Arg)
|
rs1597715196
|
|
NM_001042492.3(NF1):c.2468G>C (p.Gly823Ala)
|
|
|
NM_001042492.3(NF1):c.246_247del (p.Gln83fs)
|
rs771115661
|
|
NM_001042492.3(NF1):c.2473T>G (p.Ser825Ala)
|
|
|
NM_001042492.3(NF1):c.2475C>G (p.Ser825=)
|
rs1597715206
|
|
NM_001042492.3(NF1):c.2475C>T (p.Ser825=)
|
rs1597715206
|
|
NM_001042492.3(NF1):c.2476A>G (p.Ile826Val)
|
rs767069721
|
|
NM_001042492.3(NF1):c.2479G>A (p.Asp827Asn)
|
rs1597715215
|
|
NM_001042492.3(NF1):c.2482T>G (p.Leu828Val)
|
|
|
NM_001042492.3(NF1):c.2484G>A (p.Leu828=)
|
|
|
NM_001042492.3(NF1):c.2485T>G (p.Ser829Ala)
|
rs1555614202
|
|
NM_001042492.3(NF1):c.2486C>T (p.Ser829Phe)
|
rs1567848794
|
|
NM_001042492.3(NF1):c.248A>C (p.Gln83Pro)
|
rs1060500360
|
|
NM_001042492.3(NF1):c.2491A>G (p.Thr831Ala)
|
rs1555614204
|
|
NM_001042492.3(NF1):c.2491del (p.Thr831fs)
|
|
|
NM_001042492.3(NF1):c.2492_2493delinsAATCT (p.Thr831delinsLysSer)
|
rs1597715231
|
|
NM_001042492.3(NF1):c.2493A>G (p.Thr831=)
|
|
|
NM_001042492.3(NF1):c.2493A>T (p.Thr831=)
|
rs1597715234
|
|
NM_001042492.3(NF1):c.2494del (p.Asp832fs)
|
|
|
NM_001042492.3(NF1):c.2495A>G (p.Asp832Gly)
|
rs1060500283
|
|
NM_001042492.3(NF1):c.2498C>A (p.Ser833Tyr)
|
|
|
NM_001042492.3(NF1):c.2499C>T (p.Ser833=)
|
rs2067066249
|
|
NM_001042492.3(NF1):c.249G>A (p.Gln83=)
|
rs1555605387
|
|
NM_001042492.3(NF1):c.24A>G (p.Glu8=)
|
|
|
NM_001042492.3(NF1):c.2500C>T (p.Leu834=)
|
rs1597715242
|
|
NM_001042492.3(NF1):c.2508A>G (p.Glu836=)
|
rs1555614208
|
|
NM_001042492.3(NF1):c.250T>G (p.Leu84Val)
|
|
|
NM_001042492.3(NF1):c.2512A>G (p.Ile838Val)
|
rs1555614212
|
|
NM_001042492.3(NF1):c.2517C>G (p.Asn839Lys)
|
|
|
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>C (p.Thr841Pro)
|
rs2067066952
|
|
NM_001042492.3(NF1):c.2523T>G (p.Thr841=)
|
rs1597715281
|
|
NM_001042492.3(NF1):c.2524G>A (p.Gly842Ser)
|
|
|
NM_001042492.3(NF1):c.2525G>A (p.Gly842Asp)
|
rs1597715290
|
|
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.2530C>T (p.Leu844Phe)
|
rs199474785
|
|
NM_001042492.3(NF1):c.2538C>T (p.Ala846=)
|
|
|
NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro)
|
rs199474747
|
|
NM_001042492.3(NF1):c.2540T>G (p.Leu847Arg)
|
rs199474747
|
|
NM_001042492.3(NF1):c.2542G>C (p.Gly848Arg)
|
rs1060500368
|
|
NM_001042492.3(NF1):c.2549T>C (p.Val850Ala)
|
rs1424956205
|
|
NM_001042492.3(NF1):c.2549T>G (p.Val850Gly)
|
|
|
NM_001042492.3(NF1):c.2550G>A (p.Val850=)
|
rs772148227
|
|
NM_001042492.3(NF1):c.2554C>T (p.Leu852Phe)
|
rs747579293
|
|
NM_001042492.3(NF1):c.2567G>A (p.Ser856Asn)
|
rs2151429147
|
|
NM_001042492.3(NF1):c.2569A>C (p.Asn857His)
|
rs1060500259
|
|
NM_001042492.3(NF1):c.2570A>T (p.Asn857Ile)
|
|
|
NM_001042492.3(NF1):c.2572T>C (p.Ser858Pro)
|
rs587778550
|
|
NM_001042492.3(NF1):c.2578C>G (p.Leu860Val)
|
rs1597715404
|
|
NM_001042492.3(NF1):c.2578C>T (p.Leu860=)
|
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.2583A>G (p.Ala861=)
|
rs1060503891
|
|
NM_001042492.3(NF1):c.2584A>G (p.Thr862Ala)
|
rs1597715417
|
|
NM_001042492.3(NF1):c.2585C>A (p.Thr862Asn)
|
|
|
NM_001042492.3(NF1):c.2586C>G (p.Thr862=)
|
rs1567848941
|
|
NM_001042492.3(NF1):c.2588A>G (p.Tyr863Cys)
|
rs1344682851
|
|
NM_001042492.3(NF1):c.2589T>C (p.Tyr863=)
|
rs587782814
|
|
NM_001042492.3(NF1):c.2594C>T (p.Pro865Leu)
|
rs786203084
|
|
NM_001042492.3(NF1):c.2598C>T (p.Pro866=)
|
|
|
NM_001042492.3(NF1):c.2599A>G (p.Met867Val)
|
rs864622715
|
|
NM_001042492.3(NF1):c.2608G>A (p.Val870Ile)
|
|
|
NM_001042492.3(NF1):c.2608G>C (p.Val870Leu)
|
|
|
NM_001042492.3(NF1):c.2610_2613dup (p.Glu872delinsGlnTer)
|
|
|
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.2617C>G (p.Arg873Gly)
|
rs199474739
|
|
NM_001042492.3(NF1):c.2618G>C (p.Arg873Pro)
|
rs949092641
|
|
NM_001042492.3(NF1):c.2621_2634dup (p.Ser879delinsArgValLeuTer)
|
rs1597715490
|
|
NM_001042492.3(NF1):c.2623G>A (p.Gly875Ser)
|
rs754734571
|
|
NM_001042492.3(NF1):c.2623G>T (p.Gly875Cys)
|
rs754734571
|
|
NM_001042492.3(NF1):c.2625T>G (p.Gly875=)
|
rs1597715502
|
|
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.2635T>G (p.Ser879Ala)
|
|
|
NM_001042492.3(NF1):c.2637A>G (p.Ser879=)
|
rs1555614288
|
|
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.2648C>G (p.Ser883Ter)
|
|
|
NM_001042492.3(NF1):c.2648C>T (p.Ser883Leu)
|
rs2151429346
|
|
NM_001042492.3(NF1):c.2649A>G (p.Ser883=)
|
rs2067070240
|
|
NM_001042492.3(NF1):c.2650G>T (p.Glu884Ter)
|
|
|
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>A (p.Gly885Glu)
|
|
|
NM_001042492.3(NF1):c.2654G>C (p.Gly885Ala)
|
|
|
NM_001042492.3(NF1):c.2658C>A (p.Asn886Lys)
|
|
|
NM_001042492.3(NF1):c.2658C>G (p.Asn886Lys)
|
rs781549970
|
|
NM_001042492.3(NF1):c.2660C>G (p.Ala887Gly)
|
|
|
NM_001042492.3(NF1):c.2660C>T (p.Ala887Val)
|
rs1567849029
|
|
NM_001042492.3(NF1):c.2661A>C (p.Ala887=)
|
rs1555614292
|
|
NM_001042492.3(NF1):c.2661A>G (p.Ala887=)
|
rs1555614292
|
|
NM_001042492.3(NF1):c.2665dup (p.Thr889fs)
|
rs886041348
|
|
NM_001042492.3(NF1):c.2666C>A (p.Thr889Lys)
|
|
|
NM_001042492.3(NF1):c.2666C>T (p.Thr889Ile)
|
|
|
NM_001042492.3(NF1):c.2667A>C (p.Thr889=)
|
rs1597715583
|
|
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.2673C>T (p.Val891=)
|
|
|
NM_001042492.3(NF1):c.2674A>T (p.Ser892Cys)
|
rs746324091
|
|
NM_001042492.3(NF1):c.2674del (p.Ser892fs)
|
rs1555614296
|
|
NM_001042492.3(NF1):c.2679del (p.Lys893fs)
|
rs2067071059
|
|
NM_001042492.3(NF1):c.267A>C (p.Thr89=)
|
rs1597629858
|
|
NM_001042492.3(NF1):c.2681T>G (p.Phe894Cys)
|
|
|
NM_001042492.3(NF1):c.2683A>G (p.Met895Val)
|
rs876659129
|
|
NM_001042492.3(NF1):c.2685G>A (p.Met895Ile)
|
rs770295902
|
|
NM_001042492.3(NF1):c.268C>A (p.Leu90Met)
|
|
|
NM_001042492.3(NF1):c.2694G>A (p.Leu898=)
|
rs1060503923
|
|
NM_001042492.3(NF1):c.2694G>C (p.Leu898=)
|
rs1060503923
|
|
NM_001042492.3(NF1):c.2698T>A (p.Ser900Thr)
|
|
|
NM_001042492.3(NF1):c.269T>C (p.Leu90Pro)
|
rs1555605393
|
|
NM_001042492.3(NF1):c.269T>G (p.Leu90Arg)
|
rs1555605393
|
|
NM_001042492.3(NF1):c.2700C>A (p.Ser900=)
|
|
|
NM_001042492.3(NF1):c.2700C>T (p.Ser900=)
|
|
|
NM_001042492.3(NF1):c.2704A>G (p.Met902Val)
|
|
|
NM_001042492.3(NF1):c.2705T>C (p.Met902Thr)
|
|
|
NM_001042492.3(NF1):c.2707G>C (p.Val903Leu)
|
|
|
NM_001042492.3(NF1):c.2709G>T (p.Val903=)
|
rs771820789
|
|
NM_001042492.3(NF1):c.2711G>A (p.Cys904Tyr)
|
|
|
NM_001042492.3(NF1):c.2713A>T (p.Asn905Tyr)
|
|
|
NM_001042492.3(NF1):c.2714A>G (p.Asn905Ser)
|
|
|
NM_001042492.3(NF1):c.2716C>T (p.His906Tyr)
|
|
|
NM_001042492.3(NF1):c.2718T>C (p.His906=)
|
|
|
NM_001042492.3(NF1):c.2726T>C (p.Val909Ala)
|
|
|
NM_001042492.3(NF1):c.2728G>A (p.Gly910Arg)
|
rs1555614314
|
|
NM_001042492.3(NF1):c.2729G>A (p.Gly910Glu)
|
|
|
NM_001042492.3(NF1):c.2732T>A (p.Leu911His)
|
rs1555614315
|
|
NM_001042492.3(NF1):c.2734C>T (p.Gln912Ter)
|
rs1597715673
|
|
NM_001042492.3(NF1):c.2745C>A (p.Thr915=)
|
rs759465116
|
|
NM_001042492.3(NF1):c.274A>G (p.Lys92Glu)
|
rs1555605396
|
|
NM_001042492.3(NF1):c.2754G>A (p.Lys918=)
|
rs1555614330
|
|
NM_001042492.3(NF1):c.2755G>A (p.Asp919Asn)
|
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.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.2763G>T (p.Val921=)
|
|
|
NM_001042492.3(NF1):c.2767C>A (p.Leu923Ile)
|
rs1567849138
|
|
NM_001042492.3(NF1):c.2769A>C (p.Leu923=)
|
|
|
NM_001042492.3(NF1):c.2769A>G (p.Leu923=)
|
rs1450651152
|
|
NM_001042492.3(NF1):c.276del (p.Lys92fs)
|
|
|
NM_001042492.3(NF1):c.2772A>C (p.Glu924Asp)
|
rs2151429630
|
|
NM_001042492.3(NF1):c.2773T>C (p.Leu925=)
|
rs2151429634
|
|
NM_001042492.3(NF1):c.2776A>T (p.Ser926Cys)
|
|
|
NM_001042492.3(NF1):c.277T>C (p.Cys93Arg)
|
rs1555605398
|
|
NM_001042492.3(NF1):c.2781T>A (p.Pro927=)
|
rs1555614337
|
|
NM_001042492.3(NF1):c.2782G>T (p.Ala928Ser)
|
|
|
NM_001042492.3(NF1):c.2786T>C (p.Leu929Pro)
|
rs1555614338
|
|
NM_001042492.3(NF1):c.2787G>A (p.Leu929=)
|
|
|
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>A (p.Leu933Gln)
|
|
|
NM_001042492.3(NF1):c.2798T>C (p.Leu933Pro)
|
rs1555614342
|
|
NM_001042492.3(NF1):c.2799A>G (p.Leu933=)
|
rs1597715783
|
|
NM_001042492.3(NF1):c.279T>C (p.Cys93=)
|
rs1597629882
|
|
NM_001042492.3(NF1):c.2805C>T (p.Asn935=)
|
rs1060503894
|
|
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.2810del (p.Lys936_Leu937insTer)
|
rs2067074098
|
|
NM_001042492.3(NF1):c.2811G>A (p.Leu937=)
|
|
|
NM_001042492.3(NF1):c.2813A>C (p.Lys938Thr)
|
|
|
NM_001042492.3(NF1):c.2815A>G (p.Asn939Asp)
|
|
|
NM_001042492.3(NF1):c.2820_2826del (p.Ile941fs)
|
rs1597715824
|
|
NM_001042492.3(NF1):c.2823C>T (p.Ile941=)
|
|
|
NM_001042492.3(NF1):c.2825G>C (p.Ser942Thr)
|
rs1555614350
|
|
NM_001042492.3(NF1):c.2827A>G (p.Lys943Glu)
|
rs1567849199
|
|
NM_001042492.3(NF1):c.2827A>T (p.Lys943Ter)
|
rs1567849199
|
|
NM_001042492.3(NF1):c.2829dup (p.Phe944fs)
|
|
|
NM_001042492.3(NF1):c.2831T>A (p.Phe944Tyr)
|
|
|
NM_001042492.3(NF1):c.2835dup (p.Asp946Ter)
|
rs1567849208
|
|
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.2847A>G (p.Gly949=)
|
rs1555614361
|
|
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.284del (p.Ala95fs)
|
rs1597629895
|
|
NM_001042492.3(NF1):c.2850+1G>T
|
rs1131691122
|
|
NM_001042492.3(NF1):c.2850+2T>C
|
rs1597715880
|
|
NM_001042492.3(NF1):c.2850+2T>G
|
rs1597715880
|
|
NM_001042492.3(NF1):c.2850+4A>G
|
|
|
NM_001042492.3(NF1):c.2850G>A (p.Gln950=)
|
rs863224446
|
|
NM_001042492.3(NF1):c.2850_2850+2dup
|
rs1597715874
|
|
NM_001042492.3(NF1):c.2851-1G>A
|
rs1597716274
|
|
NM_001042492.3(NF1):c.2851-1G>T
|
rs1597716274
|
|
NM_001042492.3(NF1):c.2851-21_2851-17del
|
rs758020046
|
|
NM_001042492.3(NF1):c.2851-2A>C
|
|
|
NM_001042492.3(NF1):c.2851-3del
|
rs876660379
|
|
NM_001042492.3(NF1):c.2851-6_2851-3del
|
rs1597716256
|
|
NM_001042492.3(NF1):c.2855_3113+154dup
|
|
|
NM_001042492.3(NF1):c.2855del (p.Leu952fs)
|
|
|
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.2868C>T (p.Thr956=)
|
rs1597716290
|
|
NM_001042492.3(NF1):c.2869A>C (p.Asn957His)
|
|
|
NM_001042492.3(NF1):c.286G>T (p.Gly96Trp)
|
rs1597629902
|
|
NM_001042492.3(NF1):c.2870A>G (p.Asn957Ser)
|
|
|
NM_001042492.3(NF1):c.2870del (p.Asn957fs)
|
rs1555614423
|
|
NM_001042492.3(NF1):c.2874T>A (p.Thr958=)
|
|
|
NM_001042492.3(NF1):c.2875C>T (p.Gln959Ter)
|
rs2151430537
|
|
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+1G>T
|
rs1567816131
|
|
NM_001042492.3(NF1):c.288+1del
|
rs1057519370
|
|
NM_001042492.3(NF1):c.288+2025T>G
|
|
|
NM_001042492.3(NF1):c.288+4A>C
|
|
|
NM_001042492.3(NF1):c.288+5G>A
|
rs1555605409
|
|
NM_001042492.3(NF1):c.2887C>G (p.Gln963Glu)
|
|
|
NM_001042492.3(NF1):c.288G>A (p.Gly96=)
|
rs1430988476
|
|
NM_001042492.3(NF1):c.289-327T>C
|
|
|
NM_001042492.3(NF1):c.2895A>C (p.Ile965=)
|
rs1597716325
|
|
NM_001042492.3(NF1):c.2896G>A (p.Ala966Thr)
|
rs876658849
|
|
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.289C>T (p.Gln97Ter)
|
rs1597635615
|
|
NM_001042492.3(NF1):c.28_34del (p.Val10fs)
|
|
|
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>C (p.Met968Thr)
|
|
|
NM_001042492.3(NF1):c.2904G>A (p.Met968Ile)
|
rs1597716342
|
|
NM_001042492.3(NF1):c.2906del (p.Lys969fs)
|
|
|
NM_001042492.3(NF1):c.2907G>T (p.Lys969Asn)
|
|
|
NM_001042492.3(NF1):c.2915T>C (p.Leu972Pro)
|
rs1597716348
|
|
NM_001042492.3(NF1):c.2916A>G (p.Leu972=)
|
|
|
NM_001042492.3(NF1):c.2918A>G (p.Asp973Gly)
|
|
|
NM_001042492.3(NF1):c.2918del (p.Asp973fs)
|
|
|
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.2922T>C (p.Asn974=)
|
|
|
NM_001042492.3(NF1):c.2924A>G (p.His975Arg)
|
|
|
NM_001042492.3(NF1):c.2927C>G (p.Thr976Ser)
|
rs755404523
|
|
NM_001042492.3(NF1):c.2928T>C (p.Thr976=)
|
rs1555614446
|
|
NM_001042492.3(NF1):c.2931A>G (p.Glu977=)
|
rs1555614447
|
|
NM_001042492.3(NF1):c.2931A>T (p.Glu977Asp)
|
|
|
NM_001042492.3(NF1):c.2933G>A (p.Gly978Asp)
|
rs1597716371
|
|
NM_001042492.3(NF1):c.2934del (p.Ser979fs)
|
rs1555614448
|
|
NM_001042492.3(NF1):c.2938T>A (p.Ser980Thr)
|
|
|
NM_001042492.3(NF1):c.293C>A (p.Pro98Gln)
|
rs780979519
|
|
NM_001042492.3(NF1):c.293C>G (p.Pro98Arg)
|
|
|
NM_001042492.3(NF1):c.2941G>C (p.Glu981Gln)
|
rs1555614449
|
|
NM_001042492.3(NF1):c.2948T>C (p.Leu983Pro)
|
|
|
NM_001042492.3(NF1):c.2949A>G (p.Leu983=)
|
rs1555614452
|
|
NM_001042492.3(NF1):c.2951G>A (p.Gly984Glu)
|
|
|
NM_001042492.3(NF1):c.2953C>T (p.Gln985Ter)
|
rs1555614455
|
|
NM_001042492.3(NF1):c.295A>G (p.Lys99Glu)
|
|
|
NM_001042492.3(NF1):c.2961C>T (p.Ser987=)
|
|
|
NM_001042492.3(NF1):c.2970_2971del (p.Met991fs)
|
rs1597716432
|
|
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.2978T>A (p.Leu993Ter)
|
rs1555614460
|
|
NM_001042492.3(NF1):c.2978T>G (p.Leu993Ter)
|
rs1555614460
|
|
NM_001042492.3(NF1):c.2979A>G (p.Leu993=)
|
|
|
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.2985G>T (p.Leu995=)
|
|
|
NM_001042492.3(NF1):c.2988C>G (p.Val996=)
|
|
|
NM_001042492.3(NF1):c.2990+1G>A
|
rs1135402836
|
|
NM_001042492.3(NF1):c.2990+5G>A
|
rs1555614464
|
|
NM_001042492.3(NF1):c.2990+5G>C
|
|
|
NM_001042492.3(NF1):c.2990G>A (p.Arg997Lys)
|
rs1555614462
|
|
NM_001042492.3(NF1):c.2991-1G>A
|
rs1060500273
|
|
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.2994T>A (p.Tyr998Ter)
|
|
|
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.2T>A (p.Met1Lys)
|
rs886041346
|
|
NM_001042492.3(NF1):c.2T>C (p.Met1Thr)
|
rs886041346
|
|
NM_001042492.3(NF1):c.2T>G (p.Met1Arg)
|
rs886041346
|
|
NM_001042492.3(NF1):c.3005T>C (p.Leu1002Pro)
|
|
|
NM_001042492.3(NF1):c.3009G>A (p.Gly1003=)
|
rs780895334
|
|
NM_001042492.3(NF1):c.3010_3017dup (p.His1007fs)
|
|
|
NM_001042492.3(NF1):c.3014T>C (p.Met1005Thr)
|
rs1555614504
|
|
NM_001042492.3(NF1):c.3017T>C (p.Val1006Ala)
|
rs755636107
|
|
NM_001042492.3(NF1):c.3017T>G (p.Val1006Gly)
|
|
|
NM_001042492.3(NF1):c.3018C>G (p.Val1006=)
|
|
|
NM_001042492.3(NF1):c.3023C>A (p.Ala1008Glu)
|
|
|
NM_001042492.3(NF1):c.3024A>C (p.Ala1008=)
|
rs779490777
|
|
NM_001042492.3(NF1):c.3025A>G (p.Ile1009Val)
|
rs1597716866
|
|
NM_001042492.3(NF1):c.3028C>A (p.Gln1010Lys)
|
|
|
NM_001042492.3(NF1):c.3030A>G (p.Gln1010=)
|
rs1405071456
|
|
NM_001042492.3(NF1):c.3030A>T (p.Gln1010His)
|
|
|
NM_001042492.3(NF1):c.3032T>A (p.Ile1011Lys)
|
|
|
NM_001042492.3(NF1):c.3033A>G (p.Ile1011Met)
|
rs2151431575
|
|
NM_001042492.3(NF1):c.3033A>T (p.Ile1011=)
|
|
|
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.3037del (p.Thr1013fs)
|
rs1135402838
|
|
NM_001042492.3(NF1):c.303A>G (p.Thr101=)
|
rs1597635650
|
|
NM_001042492.3(NF1):c.3044T>C (p.Leu1015Pro)
|
rs1131691112
|
|
NM_001042492.3(NF1):c.3046dup (p.Cys1016fs)
|
rs2151431612
|
|
NM_001042492.3(NF1):c.3047_3048del (p.Cys1016fs)
|
rs1597716910
|
|
NM_001042492.3(NF1):c.3049C>T (p.Gln1017Ter)
|
rs2067091604
|
|
NM_001042492.3(NF1):c.3051A>G (p.Gln1017=)
|
rs201891488
|
|
NM_001042492.3(NF1):c.3055G>A (p.Val1019Ile)
|
rs1567849826
|
|
NM_001042492.3(NF1):c.3059A>C (p.Glu1020Ala)
|
|
|
NM_001042492.3(NF1):c.3060A>G (p.Glu1020=)
|
|
|
NM_001042492.3(NF1):c.3061G>A (p.Val1021Ile)
|
|
|
NM_001042492.3(NF1):c.3062T>C (p.Val1021Ala)
|
|
|
NM_001042492.3(NF1):c.3063A>G (p.Val1021=)
|
|
|
NM_001042492.3(NF1):c.3066G>A (p.Met1022Ile)
|
|
|
NM_001042492.3(NF1):c.3067A>G (p.Met1023Val)
|
|
|
NM_001042492.3(NF1):c.3069G>T (p.Met1023Ile)
|
|
|
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.3072A>C (p.Ala1024=)
|
rs2151431674
|
|
NM_001042492.3(NF1):c.3074G>A (p.Arg1025Lys)
|
rs876659876
|
|
NM_001042492.3(NF1):c.3074_3096dup (p.Gln1033fs)
|
rs1555614527
|
|
NM_001042492.3(NF1):c.3078A>C (p.Arg1026Ser)
|
rs1597716965
|
|
NM_001042492.3(NF1):c.3081T>C (p.Asp1027=)
|
rs1555614532
|
|
NM_001042492.3(NF1):c.3082_3088del (p.Asp1028fs)
|
|
|
NM_001042492.3(NF1):c.3084C>A (p.Asp1028Glu)
|
|
|
NM_001042492.3(NF1):c.3084C>T (p.Asp1028=)
|
rs1235103530
|
|
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.3089C>G (p.Ser1030Ter)
|
rs1567849864
|
|
NM_001042492.3(NF1):c.308G>C (p.Arg103Thr)
|
|
|
NM_001042492.3(NF1):c.3090A>G (p.Ser1030=)
|
|
|
NM_001042492.3(NF1):c.3093T>C (p.Phe1031=)
|
rs2067092711
|
|
NM_001042492.3(NF1):c.3099A>G (p.Gln1033=)
|
rs2067092832
|
|
NM_001042492.3(NF1):c.3102G>A (p.Glu1034=)
|
rs1555614536
|
|
NM_001042492.3(NF1):c.3104T>A (p.Met1035Lys)
|
rs137854553
|
|
NM_001042492.3(NF1):c.3104T>C (p.Met1035Thr)
|
rs137854553
|
|
NM_001042492.3(NF1):c.3105G>A (p.Met1035Ile)
|
|
|
NM_001042492.3(NF1):c.3107A>G (p.Lys1036Arg)
|
rs1555614540
|
|
NM_001042492.3(NF1):c.3108del (p.Lys1036fs)
|
|
|
NM_001042492.3(NF1):c.310T>C (p.Leu104=)
|
|
|
NM_001042492.3(NF1):c.3111del (p.Phe1037fs)
|
rs1131691127
|
|
NM_001042492.3(NF1):c.3113+1G>A
|
rs267606599
|
|
NM_001042492.3(NF1):c.3113+1G>C
|
rs267606599
|
|
NM_001042492.3(NF1):c.3113+1G>T
|
rs267606599
|
|
NM_001042492.3(NF1):c.3113+5G>A
|
rs1555614549
|
|
NM_001042492.3(NF1):c.3114-1G>A
|
rs1555614611
|
|
NM_001042492.3(NF1):c.3114-1G>T
|
|
|
NM_001042492.3(NF1):c.3114-2A>G
|
rs1428885377
|
|
NM_001042492.3(NF1):c.3114-4A>C
|
rs201550230
|
|
NM_001042492.3(NF1):c.3114-4A>T
|
rs201550230
|
|
NM_001042492.3(NF1):c.3114-8T>G
|
rs1597717471
|
|
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.3119A>C (p.Lys1040Thr)
|
|
|
NM_001042492.3(NF1):c.3120G>A (p.Lys1040=)
|
|
|
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.3129A>G (p.Glu1043=)
|
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.3133C>T (p.Leu1045=)
|
rs1555614626
|
|
NM_001042492.3(NF1):c.3145G>A (p.Val1049Ile)
|
rs1060500343
|
|
NM_001042492.3(NF1):c.3150G>A (p.Met1050Ile)
|
rs1555614639
|
|
NM_001042492.3(NF1):c.3154A>G (p.Thr1052Ala)
|
rs1597717598
|
|
NM_001042492.3(NF1):c.3156A>G (p.Thr1052=)
|
rs1597717604
|
|
NM_001042492.3(NF1):c.3158C>A (p.Ser1053Ter)
|
rs1597717610
|
|
NM_001042492.3(NF1):c.3158C>G (p.Ser1053Ter)
|
rs1597717610
|
|
NM_001042492.3(NF1):c.3161_3165del (p.Asn1054fs)
|
rs1555614642
|
|
NM_001042492.3(NF1):c.3162C>G (p.Asn1054Lys)
|
|
|
NM_001042492.3(NF1):c.3167C>T (p.Ala1056Val)
|
rs759655189
|
|
NM_001042492.3(NF1):c.3168A>G (p.Ala1056=)
|
rs2067102179
|
|
NM_001042492.3(NF1):c.3169G>A (p.Ala1057Thr)
|
rs1367746167
|
|
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.3175G>C (p.Asp1059His)
|
|
|
NM_001042492.3(NF1):c.3176A>T (p.Asp1059Val)
|
rs1597717658
|
|
NM_001042492.3(NF1):c.3179A>T (p.Asp1060Val)
|
rs1597717664
|
|
NM_001042492.3(NF1):c.3183_3189del (p.Lys1062fs)
|
|
|
NM_001042492.3(NF1):c.3184A>G (p.Lys1062Glu)
|
rs2151432521
|
|
NM_001042492.3(NF1):c.3185A>T (p.Lys1062Ile)
|
rs1314168961
|
|
NM_001042492.3(NF1):c.3186A>T (p.Lys1062Asn)
|
|
|
NM_001042492.3(NF1):c.3187T>C (p.Cys1063Arg)
|
rs776079267
|
|
NM_001042492.3(NF1):c.3189T>A (p.Cys1063Ter)
|
rs1135402841
|
|
NM_001042492.3(NF1):c.3191T>C (p.Leu1064Pro)
|
|
|
NM_001042492.3(NF1):c.3194C>G (p.Thr1065Arg)
|
|
|
NM_001042492.3(NF1):c.3195A>G (p.Thr1065=)
|
rs1555614650
|
|
NM_001042492.3(NF1):c.3197+9dup
|
rs755212937
|
|
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.3198-10_3198-4del
|
rs371047262
|
|
NM_001042492.3(NF1):c.3198-28_3198-4dup
|
|
|
NM_001042492.3(NF1):c.3198-314G>A
|
rs2067116490
|
|
NM_001042492.3(NF1):c.3198-330A>G
|
|
|
NM_001042492.3(NF1):c.3198-4_3198-3insGT
|
rs745559136
|
|
NM_001042492.3(NF1):c.3198-4_3198-3insTC
|
rs864622717
|
|
NM_001042492.3(NF1):c.3198-5T>G
|
rs587782639
|
|
NM_001042492.3(NF1):c.319del (p.Thr107fs)
|
rs1131691116
|
|
NM_001042492.3(NF1):c.3200A>T (p.Asp1067Val)
|
rs746785904
|
|
NM_001042492.3(NF1):c.3204G>A (p.Leu1068=)
|
rs1258842007
|
|
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.3212C>A (p.Ala1071Glu)
|
|
|
NM_001042492.3(NF1):c.3212C>T (p.Ala1071Val)
|
rs2151433685
|
|
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>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.3227dup (p.Val1077fs)
|
rs1597718765
|
|
NM_001042492.3(NF1):c.3229G>C (p.Val1077Leu)
|
|
|
NM_001042492.3(NF1):c.3231T>G (p.Val1077=)
|
|
|
NM_001042492.3(NF1):c.3234A>T (p.Ser1078=)
|
rs2151433727
|
|
NM_001042492.3(NF1):c.3235C>A (p.Leu1079Ile)
|
|
|
NM_001042492.3(NF1):c.3235C>T (p.Leu1079Phe)
|
|
|
NM_001042492.3(NF1):c.3238C>T (p.Leu1080=)
|
rs1555614832
|
|
NM_001042492.3(NF1):c.323T>C (p.Met108Thr)
|
rs780233935
|
|
NM_001042492.3(NF1):c.3240A>G (p.Leu1080=)
|
|
|
NM_001042492.3(NF1):c.3241G>C (p.Ala1081Pro)
|
rs1555614834
|
|
NM_001042492.3(NF1):c.3243T>A (p.Ala1081=)
|
rs1567850679
|
|
NM_001042492.3(NF1):c.3245G>A (p.Gly1082Asp)
|
|
|
NM_001042492.3(NF1):c.3246T>A (p.Gly1082=)
|
rs876660670
|
|
NM_001042492.3(NF1):c.3249C>T (p.Leu1083=)
|
|
|
NM_001042492.3(NF1):c.3250C>G (p.Pro1084Ala)
|
rs1555614848
|
|
NM_001042492.3(NF1):c.3250C>T (p.Pro1084Ser)
|
rs1555614848
|
|
NM_001042492.3(NF1):c.3251C>G (p.Pro1084Arg)
|
rs1164081667
|
|
NM_001042492.3(NF1):c.3251del (p.Pro1084fs)
|
|
|
NM_001042492.3(NF1):c.3253C>G (p.Leu1085Val)
|
rs145323424
|
|
NM_001042492.3(NF1):c.3253_3254del (p.Leu1085fs)
|
|
|
NM_001042492.3(NF1):c.3254T>G (p.Leu1085Arg)
|
rs1555614849
|
|
NM_001042492.3(NF1):c.3255G>A (p.Leu1085=)
|
|
|
NM_001042492.3(NF1):c.3256C>T (p.Gln1086Ter)
|
rs2067123355
|
|
NM_001042492.3(NF1):c.325del (p.Leu109fs)
|
|
|
NM_001042492.3(NF1):c.3261T>C (p.Pro1087=)
|
rs1597718814
|
|
NM_001042492.3(NF1):c.3262G>T (p.Glu1088Ter)
|
rs2151433803
|
|
NM_001042492.3(NF1):c.3266A>G (p.Glu1089Gly)
|
|
|
NM_001042492.3(NF1):c.3267A>C (p.Glu1089Asp)
|
|
|
NM_001042492.3(NF1):c.3267A>G (p.Glu1089=)
|
rs1156280518
|
|
NM_001042492.3(NF1):c.3267A>T (p.Glu1089Asp)
|
|
|
NM_001042492.3(NF1):c.3269G>A (p.Gly1090Glu)
|
|
|
NM_001042492.3(NF1):c.3271_3272dup (p.Asp1091fs)
|
|
|
NM_001042492.3(NF1):c.3273T>A (p.Asp1091Glu)
|
rs1131691124
|
|
NM_001042492.3(NF1):c.3273T>C (p.Asp1091=)
|
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>C (p.Gly1092Ala)
|
|
|
NM_001042492.3(NF1):c.3276T>C (p.Gly1092=)
|
rs763555840
|
|
NM_001042492.3(NF1):c.3279G>A (p.Val1093=)
|
rs769134583
|
|
NM_001042492.3(NF1):c.327G>A (p.Leu109=)
|
rs2143671003
|
|
NM_001042492.3(NF1):c.327G>T (p.Leu109=)
|
rs2143671003
|
|
NM_001042492.3(NF1):c.3283T>C (p.Leu1095=)
|
rs1597718850
|
|
NM_001042492.3(NF1):c.3284T>A (p.Leu1095Ter)
|
|
|
NM_001042492.3(NF1):c.3289G>A (p.Glu1097Lys)
|
rs1555614865
|
|
NM_001042492.3(NF1):c.328G>A (p.Val110Ile)
|
|
|
NM_001042492.3(NF1):c.3292G>A (p.Ala1098Thr)
|
|
|
NM_001042492.3(NF1):c.3295A>C (p.Lys1099Gln)
|
|
|
NM_001042492.3(NF1):c.3297A>G (p.Lys1099=)
|
|
|
NM_001042492.3(NF1):c.3301C>T (p.Gln1101Ter)
|
rs2151433888
|
|
NM_001042492.3(NF1):c.3308T>G (p.Phe1103Cys)
|
rs1597718879
|
|
NM_001042492.3(NF1):c.330C>T (p.Val110=)
|
|
|
NM_001042492.3(NF1):c.3313A>G (p.Lys1105Glu)
|
rs1555614867
|
|
NM_001042492.3(NF1):c.3315-10_3335del
|
rs2151434411
|
|
NM_001042492.3(NF1):c.3315-2A>C
|
rs1555614914
|
|
NM_001042492.3(NF1):c.3315-2A>G
|
rs1555614914
|
|
NM_001042492.3(NF1):c.3315-3C>T
|
rs752318318
|
|
NM_001042492.3(NF1):c.3315-5C>G
|
|
|
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.3324A>G (p.Thr1108=)
|
|
|
NM_001042492.3(NF1):c.3324dup (p.Leu1109fs)
|
rs2151434460
|
|
NM_001042492.3(NF1):c.3327A>G (p.Leu1109=)
|
|
|
NM_001042492.3(NF1):c.332A>G (p.Lys111Arg)
|
|
|
NM_001042492.3(NF1):c.3330_3333del (p.Phe1110fs)
|
|
|
NM_001042492.3(NF1):c.3331del (p.Phe1110_Met1111insTer)
|
rs2067134394
|
|
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.3336C>T (p.Asn1112=)
|
rs1060500262
|
|
NM_001042492.3(NF1):c.3347A>C (p.Asp1116Ala)
|
rs1597719439
|
|
NM_001042492.3(NF1):c.334C>T (p.Gln112Ter)
|
rs1555606061
|
|
NM_001042492.3(NF1):c.3352_3353del (p.Cys1117_Ser1118insTer)
|
|
|
NM_001042492.3(NF1):c.3354T>C (p.Ser1118=)
|
rs2151434529
|
|
NM_001042492.3(NF1):c.3358G>A (p.Val1120Ile)
|
rs200594167
|
|
NM_001042492.3(NF1):c.3361G>A (p.Glu1121Lys)
|
rs1567851029
|
|
NM_001042492.3(NF1):c.3365A>G (p.Asp1122Gly)
|
rs1597719461
|
|
NM_001042492.3(NF1):c.3367G>T (p.Glu1123Ter)
|
rs1555614940
|
|
NM_001042492.3(NF1):c.3368A>G (p.Glu1123Gly)
|
rs1410465727
|
|
NM_001042492.3(NF1):c.3370A>G (p.Ser1124Gly)
|
|
|
NM_001042492.3(NF1):c.3371G>T (p.Ser1124Ile)
|
rs374472758
|
|
NM_001042492.3(NF1):c.3376C>T (p.Gln1126Ter)
|
rs1555614947
|
|
NM_001042492.3(NF1):c.3380C>T (p.Thr1127Ile)
|
|
|
NM_001042492.3(NF1):c.3380del (p.Thr1127fs)
|
rs1597719498
|
|
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.338dup (p.Leu113fs)
|
rs1597635740
|
|
NM_001042492.3(NF1):c.3391A>C (p.Lys1131Gln)
|
rs2067135932
|
|
NM_001042492.3(NF1):c.3397G>A (p.Gly1133Ser)
|
|
|
NM_001042492.3(NF1):c.3402G>A (p.Met1134Ile)
|
rs587782701
|
|
NM_001042492.3(NF1):c.3404C>G (p.Ser1135Cys)
|
|
|
NM_001042492.3(NF1):c.3407G>C (p.Arg1136Pro)
|
rs868407539
|
|
NM_001042492.3(NF1):c.3408G>A (p.Arg1136=)
|
|
|
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>T (p.Ala1139Val)
|
|
|
NM_001042492.3(NF1):c.3417A>C (p.Ala1139=)
|
rs864622524
|
|
NM_001042492.3(NF1):c.3417A>T (p.Ala1139=)
|
rs864622524
|
|
NM_001042492.3(NF1):c.3419C>A (p.Ser1140Ter)
|
|
|
NM_001042492.3(NF1):c.3420A>G (p.Ser1140=)
|
rs1555614961
|
|
NM_001042492.3(NF1):c.3420A>T (p.Ser1140=)
|
rs1555614961
|
|
NM_001042492.3(NF1):c.3421C>T (p.Leu1141=)
|
rs1597719568
|
|
NM_001042492.3(NF1):c.3426G>A (p.Arg1142=)
|
rs1597719572
|
|
NM_001042492.3(NF1):c.3426del (p.Arg1142fs)
|
|
|
NM_001042492.3(NF1):c.3427C>T (p.His1143Tyr)
|
rs1555614963
|
|
NM_001042492.3(NF1):c.3428A>G (p.His1143Arg)
|
rs1555614965
|
|
NM_001042492.3(NF1):c.342G>A (p.Leu114=)
|
|
|
NM_001042492.3(NF1):c.3430T>C (p.Cys1144Arg)
|
rs2067136902
|
|
NM_001042492.3(NF1):c.3433A>G (p.Thr1145Ala)
|
rs1450606511
|
|
NM_001042492.3(NF1):c.3435G>T (p.Thr1145=)
|
rs772432150
|
|
NM_001042492.3(NF1):c.3437T>C (p.Val1146Ala)
|
|
|
NM_001042492.3(NF1):c.3437T>G (p.Val1146Gly)
|
|
|
NM_001042492.3(NF1):c.3443C>T (p.Ala1148Val)
|
|
|
NM_001042492.3(NF1):c.3444A>G (p.Ala1148=)
|
|
|
NM_001042492.3(NF1):c.3445A>G (p.Met1149Val)
|
rs1187097568
|
|
NM_001042492.3(NF1):c.3446T>G (p.Met1149Arg)
|
rs1131691121
|
|
NM_001042492.3(NF1):c.3449C>G (p.Ser1150Ter)
|
rs1555614972
|
|
NM_001042492.3(NF1):c.3453C>T (p.Asn1151=)
|
rs2151434768
|
|
NM_001042492.3(NF1):c.3455T>C (p.Leu1152Ser)
|
|
|
NM_001042492.3(NF1):c.3457C>A (p.Leu1153Ile)
|
|
|
NM_001042492.3(NF1):c.3457C>T (p.Leu1153Phe)
|
rs2151434781
|
|
NM_001042492.3(NF1):c.3459C>G (p.Leu1153=)
|
|
|
NM_001042492.3(NF1):c.3460A>T (p.Asn1154Tyr)
|
|
|
NM_001042492.3(NF1):c.3464C>A (p.Ala1155Asp)
|
|
|
NM_001042492.3(NF1):c.3472G>T (p.Asp1158Tyr)
|
|
|
NM_001042492.3(NF1):c.3473A>G (p.Asp1158Gly)
|
rs2151434824
|
|
NM_001042492.3(NF1):c.3479G>A (p.Gly1160Asp)
|
rs2067138342
|
|
NM_001042492.3(NF1):c.3483C>A (p.Leu1161=)
|
rs1597719677
|
|
NM_001042492.3(NF1):c.3484A>T (p.Met1162Leu)
|
rs773968270
|
|
NM_001042492.3(NF1):c.3486G>C (p.Met1162Ile)
|
|
|
NM_001042492.3(NF1):c.3487C>A (p.His1163Asn)
|
|
|
NM_001042492.3(NF1):c.3489C>T (p.His1163=)
|
|
|
NM_001042492.3(NF1):c.3492C>T (p.Ser1164=)
|
rs370206701
|
|
NM_001042492.3(NF1):c.3494T>C (p.Ile1165Thr)
|
rs786204211
|
|
NM_001042492.3(NF1):c.3495A>T (p.Ile1165=)
|
rs876660814
|
|
NM_001042492.3(NF1):c.3496+1G>A
|
rs2067138719
|
|
NM_001042492.3(NF1):c.3496+3G>A
|
rs1060500287
|
|
NM_001042492.3(NF1):c.3496+5G>A
|
rs786202564
|
|
NM_001042492.3(NF1):c.3496G>A (p.Gly1166Ser)
|
rs1597719704
|
|
NM_001042492.3(NF1):c.3496G>C (p.Gly1166Arg)
|
|
|
NM_001042492.3(NF1):c.3497-2A>G
|
|
|
NM_001042492.3(NF1):c.3497-3T>A
|
|
|
NM_001042492.3(NF1):c.3497-5A>G
|
rs876660405
|
|
NM_001042492.3(NF1):c.3500T>G (p.Leu1167Ter)
|
rs786204253
|
|
NM_001042492.3(NF1):c.3503G>T (p.Gly1168Val)
|
|
|
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.350T>G (p.Ile117Ser)
|
rs199474731
|
|
NM_001042492.3(NF1):c.3510C>G (p.His1170Gln)
|
|
|
NM_001042492.3(NF1):c.3515A>G (p.Asp1172Gly)
|
rs1555615017
|
|
NM_001042492.3(NF1):c.3517C>T (p.Leu1173Phe)
|
rs1060500375
|
|
NM_001042492.3(NF1):c.3519C>T (p.Leu1173=)
|
rs1555615020
|
|
NM_001042492.3(NF1):c.3524C>T (p.Thr1175Ile)
|
rs1555615024
|
|
NM_001042492.3(NF1):c.3526A>C (p.Arg1176=)
|
|
|
NM_001042492.3(NF1):c.3528A>G (p.Arg1176=)
|
|
|
NM_001042492.3(NF1):c.3530C>A (p.Ala1177Asp)
|
|
|
NM_001042492.3(NF1):c.3533C>G (p.Thr1178Arg)
|
rs1555615025
|
|
NM_001042492.3(NF1):c.3534A>C (p.Thr1178=)
|
rs876658210
|
|
NM_001042492.3(NF1):c.3537T>C (p.Phe1179=)
|
|
|
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.3543A>C (p.Glu1181Asp)
|
|
|
NM_001042492.3(NF1):c.3544G>T (p.Val1182Phe)
|
rs1555615027
|
|
NM_001042492.3(NF1):c.3549G>A (p.Leu1183=)
|
rs1051842
|
|
NM_001042492.3(NF1):c.3550A>G (p.Thr1184Ala)
|
rs2151435398
|
|
NM_001042492.3(NF1):c.3553A>G (p.Lys1185Glu)
|
rs2151435410
|
|
NM_001042492.3(NF1):c.3557T>C (p.Ile1186Thr)
|
|
|
NM_001042492.3(NF1):c.3558C>T (p.Ile1186=)
|
|
|
NM_001042492.3(NF1):c.355C>A (p.His119Asn)
|
rs1555606066
|
|
NM_001042492.3(NF1):c.3563A>G (p.Gln1188Arg)
|
rs758419553
|
|
NM_001042492.3(NF1):c.3565C>G (p.Gln1189Glu)
|
rs878853884
|
|
NM_001042492.3(NF1):c.3565C>T (p.Gln1189Ter)
|
rs878853884
|
|
NM_001042492.3(NF1):c.3568G>A (p.Gly1190Ser)
|
rs1597719982
|
|
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.3577T>A (p.Phe1193Ile)
|
rs2151435475
|
|
NM_001042492.3(NF1):c.3579T>C (p.Phe1193=)
|
|
|
NM_001042492.3(NF1):c.3580G>C (p.Asp1194His)
|
|
|
NM_001042492.3(NF1):c.3581A>G (p.Asp1194Gly)
|
|
|
NM_001042492.3(NF1):c.3582C>T (p.Asp1194=)
|
rs1555615036
|
|
NM_001042492.3(NF1):c.3584C>T (p.Thr1195Ile)
|
|
|
NM_001042492.3(NF1):c.3585A>G (p.Thr1195=)
|
|
|
NM_001042492.3(NF1):c.3586C>A (p.Leu1196Ile)
|
|
|
NM_001042492.3(NF1):c.3587T>G (p.Leu1196Arg)
|
rs199474741
|
|
NM_001042492.3(NF1):c.358T>C (p.Phe120Leu)
|
|
|
NM_001042492.3(NF1):c.3590C>T (p.Ala1197Val)
|
rs370820478
|
|
NM_001042492.3(NF1):c.3596C>T (p.Thr1199Ile)
|
rs1555615047
|
|
NM_001042492.3(NF1):c.3597A>G (p.Thr1199=)
|
|
|
NM_001042492.3(NF1):c.3598G>C (p.Val1200Leu)
|
|
|
NM_001042492.3(NF1):c.3599T>C (p.Val1200Ala)
|
|
|
NM_001042492.3(NF1):c.35C>T (p.Ala12Val)
|
rs1911554964
|
|
NM_001042492.3(NF1):c.3604_3616del (p.Ala1202fs)
|
|
|
NM_001042492.3(NF1):c.3604del (p.Ala1202fs)
|
rs1597720036
|
|
NM_001042492.3(NF1):c.3606T>G (p.Ala1202=)
|
|
|
NM_001042492.3(NF1):c.3607_3614del (p.Ala1202_Asp1203insTer)
|
|
|
NM_001042492.3(NF1):c.360T>C (p.Phe120=)
|
rs1597635781
|
|
NM_001042492.3(NF1):c.3610C>G (p.Arg1204Gly)
|
rs199474732
|
|
NM_001042492.3(NF1):c.3611G>A (p.Arg1204Gln)
|
rs1057521848
|
|
NM_001042492.3(NF1):c.3612G>T (p.Arg1204=)
|
rs1597720061
|
|
NM_001042492.3(NF1):c.3617A>G (p.Glu1206Gly)
|
rs1597720070
|
|
NM_001042492.3(NF1):c.3622T>C (p.Leu1208=)
|
rs2151435620
|
|
NM_001042492.3(NF1):c.3623T>G (p.Leu1208Trp)
|
rs1060500374
|
|
NM_001042492.3(NF1):c.3623del (p.Leu1208fs)
|
|
|
NM_001042492.3(NF1):c.3624G>A (p.Leu1208=)
|
rs1597720089
|
|
NM_001042492.3(NF1):c.3625G>T (p.Val1209Leu)
|
rs1458579232
|
|
NM_001042492.3(NF1):c.3633G>T (p.Leu1211=)
|
|
|
NM_001042492.3(NF1):c.3634G>A (p.Val1212Ile)
|
rs1597720116
|
|
NM_001042492.3(NF1):c.3635T>G (p.Val1212Gly)
|
|
|
NM_001042492.3(NF1):c.3639_3641del (p.Met1215del)
|
rs1060500276
|
|
NM_001042492.3(NF1):c.363T>G (p.Leu121=)
|
|
|
NM_001042492.3(NF1):c.3646G>T (p.Gly1216Cys)
|
rs1567851424
|
|
NM_001042492.3(NF1):c.364C>T (p.His122Tyr)
|
rs587782107
|
|
NM_001042492.3(NF1):c.3653A>G (p.Gln1218Arg)
|
rs876659541
|
|
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.3662del (p.Leu1221fs)
|
|
|
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>T (p.Pro1222Leu)
|
|
|
NM_001042492.3(NF1):c.3667A>G (p.Ile1223Val)
|
rs1567851470
|
|
NM_001042492.3(NF1):c.3668T>C (p.Ile1223Thr)
|
|
|
NM_001042492.3(NF1):c.366del (p.His122fs)
|
|
|
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.3675G>A (p.Met1225Ile)
|
|
|
NM_001042492.3(NF1):c.3679C>G (p.Leu1227Val)
|
rs876660431
|
|
NM_001042492.3(NF1):c.367_368del (p.Thr123fs)
|
rs1597635793
|
|
NM_001042492.3(NF1):c.3681G>A (p.Leu1227=)
|
|
|
NM_001042492.3(NF1):c.3683C>T (p.Ala1228Val)
|
rs1060500315
|
|
NM_001042492.3(NF1):c.3685A>T (p.Asn1229Tyr)
|
rs1555615102
|
|
NM_001042492.3(NF1):c.3687T>C (p.Asn1229=)
|
rs752937870
|
|
NM_001042492.3(NF1):c.368C>A (p.Thr123Asn)
|
rs878853886
|
|
NM_001042492.3(NF1):c.368C>G (p.Thr123Ser)
|
|
|
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.369C>A (p.Thr123=)
|
|
|
NM_001042492.3(NF1):c.3703C>T (p.Gln1235Ter)
|
rs1555615109
|
|
NM_001042492.3(NF1):c.3706T>C (p.Trp1236Arg)
|
rs1555615111
|
|
NM_001042492.3(NF1):c.3708G>A (p.Trp1236Ter)
|
rs2067145586
|
|
NM_001042492.3(NF1):c.3709-5C>T
|
rs1390680821
|
|
NM_001042492.3(NF1):c.370T>G (p.Cys124Gly)
|
|
|
NM_001042492.3(NF1):c.3712G>A (p.Glu1238Lys)
|
|
|
NM_001042492.3(NF1):c.3714A>G (p.Glu1238=)
|
rs1597722384
|
|
NM_001042492.3(NF1):c.3714A>T (p.Glu1238Asp)
|
|
|
NM_001042492.3(NF1):c.3718G>C (p.Ala1240Pro)
|
|
|
NM_001042492.3(NF1):c.3719C>T (p.Ala1240Val)
|
rs2067185676
|
|
NM_001042492.3(NF1):c.371G>T (p.Cys124Phe)
|
|
|
NM_001042492.3(NF1):c.3720_3721del (p.Arg1241fs)
|
|
|
NM_001042492.3(NF1):c.3723A>G (p.Arg1241=)
|
|
|
NM_001042492.3(NF1):c.3727C>G (p.Leu1243Val)
|
|
|
NM_001042492.3(NF1):c.372del (p.Arg125fs)
|
|
|
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.3735T>C (p.Thr1245=)
|
|
|
NM_001042492.3(NF1):c.3736C>G (p.Leu1246Val)
|
rs1567852501
|
|
NM_001042492.3(NF1):c.3738G>A (p.Leu1246=)
|
|
|
NM_001042492.3(NF1):c.3738G>C (p.Leu1246=)
|
|
|
NM_001042492.3(NF1):c.3739_3742del (p.Phe1247fs)
|
rs1064794276
|
|
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.3741T>A (p.Phe1247Leu)
|
|
|
NM_001042492.3(NF1):c.3748C>A (p.Arg1250=)
|
|
|
NM_001042492.3(NF1):c.374G>T (p.Arg125Leu)
|
rs149003051
|
|
NM_001042492.3(NF1):c.3750G>A (p.Arg1250=)
|
rs201756981
|
|
NM_001042492.3(NF1):c.3752A>G (p.His1251Arg)
|
rs1567852526
|
|
NM_001042492.3(NF1):c.3756A>G (p.Leu1252=)
|
rs1298630862
|
|
NM_001042492.3(NF1):c.3757C>T (p.Leu1253Phe)
|
rs2067186931
|
|
NM_001042492.3(NF1):c.3759C>T (p.Leu1253=)
|
|
|
NM_001042492.3(NF1):c.3762C>A (p.Tyr1254Ter)
|
|
|
NM_001042492.3(NF1):c.3763C>T (p.Gln1255Ter)
|
rs1060500308
|
|
NM_001042492.3(NF1):c.3765_3766insATT (p.Gln1255_Leu1256insIle)
|
|
|
NM_001042492.3(NF1):c.3767T>A (p.Leu1256Gln)
|
|
|
NM_001042492.3(NF1):c.3774G>C (p.Trp1258Cys)
|
rs1597722516
|
|
NM_001042492.3(NF1):c.3778_3782del (p.Met1260fs)
|
rs1555615462
|
|
NM_001042492.3(NF1):c.3779T>C (p.Met1260Thr)
|
rs1555615463
|
|
NM_001042492.3(NF1):c.3780G>T (p.Met1260Ile)
|
|
|
NM_001042492.3(NF1):c.378A>C (p.Glu126Asp)
|
rs786201914
|
|
NM_001042492.3(NF1):c.378A>G (p.Glu126=)
|
rs786201914
|
|
NM_001042492.3(NF1):c.3790G>C (p.Glu1264Gln)
|
|
|
NM_001042492.3(NF1):c.3793G>T (p.Val1265Leu)
|
rs2151437905
|
|
NM_001042492.3(NF1):c.3794T>C (p.Val1265Ala)
|
|
|
NM_001042492.3(NF1):c.3795A>G (p.Val1265=)
|
rs2151437907
|
|
NM_001042492.3(NF1):c.3797A>G (p.Glu1266Gly)
|
|
|
NM_001042492.3(NF1):c.37G>T (p.Val13Leu)
|
rs1060500261
|
|
NM_001042492.3(NF1):c.3805G>A (p.Asp1269Asn)
|
|
|
NM_001042492.3(NF1):c.3808T>A (p.Ser1270Thr)
|
rs1597722567
|
|
NM_001042492.3(NF1):c.3809C>T (p.Ser1270Phe)
|
|
|
NM_001042492.3(NF1):c.3810C>T (p.Ser1270=)
|
|
|
NM_001042492.3(NF1):c.3812T>C (p.Met1271Thr)
|
rs876659801
|
|
NM_001042492.3(NF1):c.3814C>T (p.Gln1272Ter)
|
rs2067188361
|
|
NM_001042492.3(NF1):c.3815A>T (p.Gln1272Leu)
|
rs1597722580
|
|
NM_001042492.3(NF1):c.3816G>A (p.Gln1272=)
|
|
|
NM_001042492.3(NF1):c.3816G>C (p.Gln1272His)
|
|
|
NM_001042492.3(NF1):c.3817A>T (p.Thr1273Ser)
|
|
|
NM_001042492.3(NF1):c.3826C>A (p.Arg1276=)
|
rs199474742
|
|
NM_001042492.3(NF1):c.3826C>G (p.Arg1276Gly)
|
rs199474742
|
|
NM_001042492.3(NF1):c.3827G>C (p.Arg1276Pro)
|
rs137854556
|
|
NM_001042492.3(NF1):c.3830G>C (p.Gly1277Ala)
|
|
|
NM_001042492.3(NF1):c.3832A>G (p.Asn1278Asp)
|
|
|
NM_001042492.3(NF1):c.3834C>A (p.Asn1278Lys)
|
|
|
NM_001042492.3(NF1):c.3834C>T (p.Asn1278=)
|
|
|
NM_001042492.3(NF1):c.3838T>G (p.Leu1280Val)
|
|
|
NM_001042492.3(NF1):c.3840G>T (p.Leu1280Phe)
|
|
|
NM_001042492.3(NF1):c.3841G>A (p.Ala1281Thr)
|
rs2151438011
|
|
NM_001042492.3(NF1):c.3842C>G (p.Ala1281Gly)
|
rs1060500341
|
|
NM_001042492.3(NF1):c.3842C>T (p.Ala1281Val)
|
|
|
NM_001042492.3(NF1):c.3844A>G (p.Ser1282Gly)
|
|
|
NM_001042492.3(NF1):c.3849A>G (p.Lys1283=)
|
rs1597722644
|
|
NM_001042492.3(NF1):c.384C>A (p.Asn128Lys)
|
|
|
NM_001042492.3(NF1):c.384C>T (p.Asn128=)
|
rs1597635852
|
|
NM_001042492.3(NF1):c.3853A>C (p.Met1285Leu)
|
rs2151438030
|
|
NM_001042492.3(NF1):c.3855G>C (p.Met1285Ile)
|
rs2067189497
|
|
NM_001042492.3(NF1):c.3859T>C (p.Phe1287Leu)
|
rs1434858786
|
|
NM_001042492.3(NF1):c.385C>T (p.Gln129Ter)
|
rs2143672195
|
|
NM_001042492.3(NF1):c.3861C>T (p.Phe1287=)
|
rs749107019
|
|
NM_001042492.3(NF1):c.3866_3867insACCC (p.Phe1289fs)
|
|
|
NM_001042492.3(NF1):c.3866del (p.Phe1289fs)
|
|
|
NM_001042492.3(NF1):c.386A>T (p.Gln129Leu)
|
rs1060500250
|
|
NM_001042492.3(NF1):c.3870+3T>A
|
|
|
NM_001042492.3(NF1):c.3870+4T>C
|
rs1555615499
|
|
NM_001042492.3(NF1):c.3870+5G>A
|
|
|
NM_001042492.3(NF1):c.3871-1G>A
|
rs1567852753
|
|
NM_001042492.3(NF1):c.3871-2A>G
|
rs1131691077
|
|
NM_001042492.3(NF1):c.3871-4G>A
|
rs558421445
|
|
NM_001042492.3(NF1):c.3871G>A (p.Val1291Ile)
|
|
|
NM_001042492.3(NF1):c.3872T>C (p.Val1291Ala)
|
|
|
NM_001042492.3(NF1):c.3873A>G (p.Val1291=)
|
rs1250496630
|
|
NM_001042492.3(NF1):c.3875A>G (p.Tyr1292Cys)
|
rs1060500243
|
|
NM_001042492.3(NF1):c.3876T>A (p.Tyr1292Ter)
|
|
|
NM_001042492.3(NF1):c.3877G>A (p.Gly1293Ser)
|
|
|
NM_001042492.3(NF1):c.3877G>T (p.Gly1293Cys)
|
|
|
NM_001042492.3(NF1):c.3878G>A (p.Gly1293Asp)
|
rs2067193448
|
|
NM_001042492.3(NF1):c.387G>A (p.Gln129=)
|
rs1390215440
|
|
NM_001042492.3(NF1):c.387G>C (p.Gln129His)
|
rs1390215440
|
|
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.3892C>T (p.Gln1298Ter)
|
rs2067193761
|
|
NM_001042492.3(NF1):c.3897del (p.Lys1299fs)
|
rs878853890
|
|
NM_001042492.3(NF1):c.3898del (p.Leu1300fs)
|
|
|
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.38T>C (p.Val13Ala)
|
rs1911556061
|
|
NM_001042492.3(NF1):c.3904G>A (p.Asp1302Asn)
|
rs1597722958
|
|
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.3916C>T (p.Arg1306Ter)
|
rs376576925
|
|
NM_001042492.3(NF1):c.3917G>A (p.Arg1306Gln)
|
rs1306237220
|
|
NM_001042492.3(NF1):c.3917G>C (p.Arg1306Pro)
|
|
|
NM_001042492.3(NF1):c.3918A>T (p.Arg1306=)
|
|
|
NM_001042492.3(NF1):c.391G>A (p.Ala131Thr)
|
|
|
NM_001042492.3(NF1):c.3921T>C (p.Ile1307=)
|
|
|
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.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.3939T>C (p.Asp1313=)
|
rs864622325
|
|
NM_001042492.3(NF1):c.3942G>A (p.Trp1314Ter)
|
rs2067194816
|
|
NM_001042492.3(NF1):c.3943C>A (p.Gln1315Lys)
|
rs2067194846
|
|
NM_001042492.3(NF1):c.3943C>T (p.Gln1315Ter)
|
rs2067194846
|
|
NM_001042492.3(NF1):c.3944A>G (p.Gln1315Arg)
|
|
|
NM_001042492.3(NF1):c.3947A>C (p.His1316Pro)
|
rs751023085
|
|
NM_001042492.3(NF1):c.3948dup (p.Val1317fs)
|
rs1555615559
|
|
NM_001042492.3(NF1):c.3949G>A (p.Val1317Ile)
|
rs1555615560
|
|
NM_001042492.3(NF1):c.394G>A (p.Ala132Thr)
|
|
|
NM_001042492.3(NF1):c.3951T>C (p.Val1317=)
|
rs1597723015
|
|
NM_001042492.3(NF1):c.3953G>C (p.Ser1318Thr)
|
|
|
NM_001042492.3(NF1):c.3959A>C (p.Glu1320Ala)
|
rs1555615562
|
|
NM_001042492.3(NF1):c.3960A>C (p.Glu1320Asp)
|
rs1555615564
|
|
NM_001042492.3(NF1):c.3960A>G (p.Glu1320=)
|
rs1555615564
|
|
NM_001042492.3(NF1):c.3962T>G (p.Val1321Gly)
|
rs1060500337
|
|
NM_001042492.3(NF1):c.3964G>C (p.Asp1322His)
|
rs1597723042
|
|
NM_001042492.3(NF1):c.3966T>A (p.Asp1322Glu)
|
|
|
NM_001042492.3(NF1):c.396T>C (p.Ala132=)
|
rs2143672460
|
|
NM_001042492.3(NF1):c.3972C>T (p.Thr1324=)
|
rs1597723059
|
|
NM_001042492.3(NF1):c.3974+1G>A
|
rs1567852849
|
|
NM_001042492.3(NF1):c.3974+1G>C
|
rs1567852849
|
|
NM_001042492.3(NF1):c.3974+260T>G
|
rs1567853044
|
|
NM_001042492.3(NF1):c.3974+3T>G
|
rs1597723069
|
|
NM_001042492.3(NF1):c.3974G>A (p.Arg1325Lys)
|
rs863224447
|
|
NM_001042492.3(NF1):c.3974G>C (p.Arg1325Thr)
|
rs863224447
|
|
NM_001042492.3(NF1):c.3975-1G>A
|
rs1060500370
|
|
NM_001042492.3(NF1):c.3975-2694A>G
|
|
|
NM_001042492.3(NF1):c.3975-2A>G
|
rs864622431
|
|
NM_001042492.3(NF1):c.3975-2A>T
|
rs864622431
|
|
NM_001042492.3(NF1):c.3975-5dup
|
rs786202231
|
|
NM_001042492.3(NF1):c.3975G>A (p.Arg1325=)
|
rs1597734999
|
|
NM_001042492.3(NF1):c.3978A>G (p.Leu1326=)
|
rs876660506
|
|
NM_001042492.3(NF1):c.3978A>T (p.Leu1326Phe)
|
rs876660506
|
|
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.3991A>G (p.Ser1331Gly)
|
rs1411796317
|
|
NM_001042492.3(NF1):c.3991_3992del (p.Ser1331fs)
|
|
|
NM_001042492.3(NF1):c.3991del (p.Ser1331fs)
|
rs2151451319
|
|
NM_001042492.3(NF1):c.3992G>A (p.Ser1331Asn)
|
rs1567858266
|
|
NM_001042492.3(NF1):c.3995T>C (p.Leu1332Pro)
|
|
|
NM_001042492.3(NF1):c.3996T>A (p.Leu1332=)
|
|
|
NM_001042492.3(NF1):c.3998A>G (p.Glu1333Gly)
|
rs200618072
|
|
NM_001042492.3(NF1):c.39G>T (p.Val13=)
|
|
|
NM_001042492.3(NF1):c.3G>A (p.Met1Ile)
|
rs1598173737
|
|
NM_001042492.3(NF1):c.3G>C (p.Met1Ile)
|
rs1598173737
|
|
NM_001042492.3(NF1):c.4000G>A (p.Glu1334Lys)
|
rs878853892
|
|
NM_001042492.3(NF1):c.4003A>T (p.Asn1335Tyr)
|
|
|
NM_001042492.3(NF1):c.4004del (p.Asn1335fs)
|
|
|
NM_001042492.3(NF1):c.4005C>T (p.Asn1335=)
|
|
|
NM_001042492.3(NF1):c.4006_4007del (p.Gln1336fs)
|
|
|
NM_001042492.3(NF1):c.4007A>C (p.Gln1336Pro)
|
rs1597735043
|
|
NM_001042492.3(NF1):c.4010G>A (p.Arg1337Gln)
|
rs1060500379
|
|
NM_001042492.3(NF1):c.4015C>T (p.Leu1339Phe)
|
rs876660466
|
|
NM_001042492.3(NF1):c.4022A>T (p.Gln1341Leu)
|
rs1555617325
|
|
NM_001042492.3(NF1):c.4023G>C (p.Gln1341His)
|
|
|
NM_001042492.3(NF1):c.4030G>A (p.Glu1344Lys)
|
|
|
NM_001042492.3(NF1):c.4034A>G (p.Lys1345Arg)
|
|
|
NM_001042492.3(NF1):c.4041C>A (p.Phe1347Leu)
|
|
|
NM_001042492.3(NF1):c.4043A>C (p.His1348Pro)
|
|
|
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.4049T>A (p.Ile1350Asn)
|
|
|
NM_001042492.3(NF1):c.4051A>T (p.Ile1351Phe)
|
|
|
NM_001042492.3(NF1):c.4053C>T (p.Ile1351=)
|
|
|
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.4063T>A (p.Ser1355Thr)
|
|
|
NM_001042492.3(NF1):c.4064C>T (p.Ser1355Leu)
|
rs1131691087
|
|
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.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.4074C>A (p.Pro1358=)
|
rs757398594
|
|
NM_001042492.3(NF1):c.4074C>G (p.Pro1358=)
|
rs757398594
|
|
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.4076del (p.Pro1359fs)
|
rs1135402852
|
|
NM_001042492.3(NF1):c.4077T>C (p.Pro1359=)
|
rs1555617366
|
|
NM_001042492.3(NF1):c.4078C>T (p.Gln1360Ter)
|
rs1555617368
|
|
NM_001042492.3(NF1):c.407del (p.Asn136fs)
|
|
|
NM_001042492.3(NF1):c.4080A>G (p.Gln1360=)
|
|
|
NM_001042492.3(NF1):c.4081C>A (p.Leu1361Ile)
|
|
|
NM_001042492.3(NF1):c.4085G>A (p.Arg1362Gln)
|
rs540108477
|
|
NM_001042492.3(NF1):c.408T>C (p.Asn136=)
|
|
|
NM_001042492.3(NF1):c.4090G>T (p.Val1364Leu)
|
|
|
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.40G>T (p.Val14Phe)
|
rs2143145306
|
|
NM_001042492.3(NF1):c.4102_4103del (p.Leu1368fs)
|
|
|
NM_001042492.3(NF1):c.4103T>A (p.Leu1368Ter)
|
|
|
NM_001042492.3(NF1):c.4103T>C (p.Leu1368Ser)
|
rs1597735265
|
|
NM_001042492.3(NF1):c.4108C>T (p.Gln1370Ter)
|
rs868573462
|
|
NM_001042492.3(NF1):c.4109A>C (p.Gln1370Pro)
|
rs1135402853
|
|
NM_001042492.3(NF1):c.4109del (p.Gln1370fs)
|
rs2151451681
|
|
NM_001042492.3(NF1):c.4110+1G>A
|
rs1555617383
|
|
NM_001042492.3(NF1):c.4110+3A>C
|
rs774669878
|
|
NM_001042492.3(NF1):c.4110+4T>A
|
rs587781700
|
|
NM_001042492.3(NF1):c.4110+945A>G
|
rs2067468999
|
|
NM_001042492.3(NF1):c.4110G>A (p.Gln1370=)
|
rs1135402854
|
|
NM_001042492.3(NF1):c.411T>C (p.Ser137=)
|
|
|
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.4174-2A>G
|
rs1555618489
|
|
NM_001042492.3(NF1):c.4174-8_4174-6del
|
rs751729752
|
|
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.4176G>A (p.Val1392=)
|
|
|
NM_001042492.3(NF1):c.4179T>G (p.Val1393=)
|
|
|
NM_001042492.3(NF1):c.4183C>T (p.Gln1395Ter)
|
rs1555618494
|
|
NM_001042492.3(NF1):c.4184A>G (p.Gln1395Arg)
|
rs2151461782
|
|
NM_001042492.3(NF1):c.4185G>A (p.Gln1395=)
|
rs775206746
|
|
NM_001042492.3(NF1):c.4186C>T (p.Arg1396Cys)
|
rs1555618495
|
|
NM_001042492.3(NF1):c.4191C>A (p.Phe1397Leu)
|
rs1555618498
|
|
NM_001042492.3(NF1):c.4192_4193dup (p.Gln1399fs)
|
|
|
NM_001042492.3(NF1):c.4193C>T (p.Pro1398Leu)
|
rs864622299
|
|
NM_001042492.3(NF1):c.4195del (p.Gln1399fs)
|
|
|
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.4200C>T (p.Asn1400=)
|
rs2151461842
|
|
NM_001042492.3(NF1):c.4202G>C (p.Ser1401Thr)
|
rs1060500249
|
|
NM_001042492.3(NF1):c.4203C>T (p.Ser1401=)
|
rs991237227
|
|
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>C (p.Gly1403Ala)
|
|
|
NM_001042492.3(NF1):c.4208del (p.Gly1403fs)
|
rs2067621019
|
|
NM_001042492.3(NF1):c.4209T>A (p.Gly1403=)
|
|
|
NM_001042492.3(NF1):c.420G>A (p.Gly140=)
|
rs1597635982
|
|
NM_001042492.3(NF1):c.4210G>T (p.Ala1404Ser)
|
|
|
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.4216G>A (p.Gly1406Arg)
|
|
|
NM_001042492.3(NF1):c.4219A>G (p.Ser1407Gly)
|
rs587781755
|
|
NM_001042492.3(NF1):c.421del (p.Val141fs)
|
rs1131691119
|
|
NM_001042492.3(NF1):c.4221T>A (p.Ser1407Arg)
|
|
|
NM_001042492.3(NF1):c.4222G>C (p.Ala1408Pro)
|
|
|
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.4227G>A (p.Met1409Ile)
|
rs786201895
|
|
NM_001042492.3(NF1):c.4227G>C (p.Met1409Ile)
|
rs786201895
|
|
NM_001042492.3(NF1):c.4228T>A (p.Phe1410Ile)
|
rs2151461937
|
|
NM_001042492.3(NF1):c.4231C>G (p.Leu1411Val)
|
rs199474789
|
|
NM_001042492.3(NF1):c.4231del (p.Leu1411fs)
|
|
|
NM_001042492.3(NF1):c.4232T>G (p.Leu1411Arg)
|
|
|
NM_001042492.3(NF1):c.4235G>C (p.Arg1412Thr)
|
rs1555618516
|
|
NM_001042492.3(NF1):c.4236A>T (p.Arg1412Ser)
|
rs137854554
|
|
NM_001042492.3(NF1):c.4237T>C (p.Phe1413Leu)
|
rs1190777334
|
|
NM_001042492.3(NF1):c.4239T>C (p.Phe1413=)
|
|
|
NM_001042492.3(NF1):c.4239T>G (p.Phe1413Leu)
|
rs1597744644
|
|
NM_001042492.3(NF1):c.4241T>A (p.Ile1414Asn)
|
|
|
NM_001042492.3(NF1):c.4242C>T (p.Ile1414=)
|
rs2151461973
|
|
NM_001042492.3(NF1):c.4243A>G (p.Asn1415Asp)
|
rs1555618518
|
|
NM_001042492.3(NF1):c.4247C>T (p.Pro1416Leu)
|
rs1555618521
|
|
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_4254del (p.Ile1418del)
|
rs1597744672
|
|
NM_001042492.3(NF1):c.4253T>C (p.Ile1418Thr)
|
|
|
NM_001042492.3(NF1):c.4255G>A (p.Val1419Ile)
|
rs2067622413
|
|
NM_001042492.3(NF1):c.4257C>T (p.Val1419=)
|
rs886038395
|
|
NM_001042492.3(NF1):c.4259C>G (p.Ser1420Ter)
|
|
|
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.4263del (p.Tyr1422fs)
|
rs1555618542
|
|
NM_001042492.3(NF1):c.4265A>G (p.Tyr1422Cys)
|
rs1555618544
|
|
NM_001042492.3(NF1):c.426A>C (p.Leu142Phe)
|
|
|
NM_001042492.3(NF1):c.4275G>A (p.Gly1425=)
|
rs1555618548
|
|
NM_001042492.3(NF1):c.4275G>T (p.Gly1425=)
|
|
|
NM_001042492.3(NF1):c.4277T>C (p.Ile1426Thr)
|
rs1555618549
|
|
NM_001042492.3(NF1):c.4280del (p.Ile1426_Leu1427insTer)
|
|
|
NM_001042492.3(NF1):c.4284T>C (p.Asp1428=)
|
rs1555618550
|
|
NM_001042492.3(NF1):c.4288A>G (p.Lys1430Glu)
|
|
|
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>G (p.Pro1433Arg)
|
rs1310048288
|
|
NM_001042492.3(NF1):c.4299T>C (p.Pro1433=)
|
rs1597744769
|
|
NM_001042492.3(NF1):c.42C>G (p.Val14=)
|
|
|
NM_001042492.3(NF1):c.4300A>T (p.Arg1434Ter)
|
rs2067623934
|
|
NM_001042492.3(NF1):c.4301G>A (p.Arg1434Lys)
|
rs1597744780
|
|
NM_001042492.3(NF1):c.4305C>G (p.Ile1435Met)
|
|
|
NM_001042492.3(NF1):c.4305C>T (p.Ile1435=)
|
rs779865988
|
|
NM_001042492.3(NF1):c.4306G>C (p.Glu1436Gln)
|
rs876660428
|
|
NM_001042492.3(NF1):c.4311G>A (p.Arg1437=)
|
rs1060503896
|
|
NM_001042492.3(NF1):c.4312G>A (p.Gly1438Ser)
|
rs1555618559
|
|
NM_001042492.3(NF1):c.4312G>C (p.Gly1438Arg)
|
|
|
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.4314C>A (p.Gly1438=)
|
|
|
NM_001042492.3(NF1):c.4314C>T (p.Gly1438=)
|
rs1555618561
|
|
NM_001042492.3(NF1):c.4315T>A (p.Leu1439Met)
|
rs1555618562
|
|
NM_001042492.3(NF1):c.4316T>G (p.Leu1439Trp)
|
rs1567862071
|
|
NM_001042492.3(NF1):c.4321T>G (p.Leu1441Val)
|
|
|
NM_001042492.3(NF1):c.4324A>G (p.Met1442Val)
|
|
|
NM_001042492.3(NF1):c.4328C>T (p.Ser1443Leu)
|
rs1555618566
|
|
NM_001042492.3(NF1):c.4330A>C (p.Lys1444Gln)
|
rs137854550
|
|
NM_001042492.3(NF1):c.4331A>C (p.Lys1444Thr)
|
|
|
NM_001042492.3(NF1):c.4332+1G>A
|
rs1555618572
|
|
NM_001042492.3(NF1):c.4332+1dup
|
|
|
NM_001042492.3(NF1):c.4332+3G>A
|
|
|
NM_001042492.3(NF1):c.4332+5A>G
|
|
|
NM_001042492.3(NF1):c.4332G>A (p.Lys1444=)
|
rs199474750
|
|
NM_001042492.3(NF1):c.4332G>C (p.Lys1444Asn)
|
rs199474750
|
|
NM_001042492.3(NF1):c.4333-13_4333-4delinsAACAGGGTTATAAATA
|
|
|
NM_001042492.3(NF1):c.4333-3T>C
|
rs1597745535
|
|
NM_001042492.3(NF1):c.4333-5T>G
|
rs1455774859
|
|
NM_001042492.3(NF1):c.4333-7T>A
|
|
|
NM_001042492.3(NF1):c.4333A>C (p.Ile1445Leu)
|
rs1555618637
|
|
NM_001042492.3(NF1):c.4333A>G (p.Ile1445Val)
|
|
|
NM_001042492.3(NF1):c.4333del (p.Ile1445fs)
|
rs1597745559
|
|
NM_001042492.3(NF1):c.4336C>T (p.Leu1446Phe)
|
rs1555618639
|
|
NM_001042492.3(NF1):c.4339C>A (p.Gln1447Lys)
|
rs1135402857
|
|
NM_001042492.3(NF1):c.4339C>G (p.Gln1447Glu)
|
rs1135402857
|
|
NM_001042492.3(NF1):c.433C>G (p.Leu145Val)
|
rs786203460
|
|
NM_001042492.3(NF1):c.433C>T (p.Leu145Phe)
|
rs786203460
|
|
NM_001042492.3(NF1):c.4341G>C (p.Gln1447His)
|
rs876660206
|
|
NM_001042492.3(NF1):c.4346T>G (p.Ile1449Ser)
|
|
|
NM_001042492.3(NF1):c.434T>A (p.Leu145His)
|
rs199474734
|
|
NM_001042492.3(NF1):c.4350C>T (p.Ala1450=)
|
rs752055412
|
|
NM_001042492.3(NF1):c.4351A>G (p.Asn1451Asp)
|
rs1567862283
|
|
NM_001042492.3(NF1):c.4351A>T (p.Asn1451Tyr)
|
|
|
NM_001042492.3(NF1):c.4352A>C (p.Asn1451Thr)
|
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.4356T>C (p.His1452=)
|
rs1391955681
|
|
NM_001042492.3(NF1):c.4357G>T (p.Val1453Phe)
|
rs199474755
|
|
NM_001042492.3(NF1):c.4358T>A (p.Val1453Asp)
|
|
|
NM_001042492.3(NF1):c.435C>G (p.Leu145=)
|
rs876659818
|
|
NM_001042492.3(NF1):c.4360C>G (p.Leu1454Val)
|
rs1408832954
|
|
NM_001042492.3(NF1):c.4364_4380del (p.Phe1455fs)
|
|
|
NM_001042492.3(NF1):c.4365C>T (p.Phe1455=)
|
rs1597745625
|
|
NM_001042492.3(NF1):c.4367C>T (p.Thr1456Ile)
|
|
|
NM_001042492.3(NF1):c.4369A>G (p.Lys1457Glu)
|
rs878853893
|
|
NM_001042492.3(NF1):c.4370A>G (p.Lys1457Arg)
|
rs1555618656
|
|
NM_001042492.3(NF1):c.4371A>G (p.Lys1457=)
|
rs1555618658
|
|
NM_001042492.3(NF1):c.4372GAA[1] (p.Glu1459del)
|
rs267606607
|
|
NM_001042492.3(NF1):c.4374A>G (p.Glu1458=)
|
rs1597745662
|
|
NM_001042492.3(NF1):c.4379A>G (p.His1460Arg)
|
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.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.439T>C (p.Cys147Arg)
|
rs1555606104
|
|
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>T (p.Lys1469Ter)
|
rs1567862353
|
|
NM_001042492.3(NF1):c.4407A>G (p.Lys1469=)
|
|
|
NM_001042492.3(NF1):c.4412A>G (p.Asn1471Ser)
|
rs876658250
|
|
NM_001042492.3(NF1):c.4413C>T (p.Asn1471=)
|
|
|
NM_001042492.3(NF1):c.4415T>C (p.Phe1472Ser)
|
|
|
NM_001042492.3(NF1):c.4415T>G (p.Phe1472Cys)
|
rs1597745737
|
|
NM_001042492.3(NF1):c.4416_4430+8del
|
|
|
NM_001042492.3(NF1):c.4422A>G (p.Ala1474=)
|
|
|
NM_001042492.3(NF1):c.4424C>G (p.Ala1475Gly)
|
|
|
NM_001042492.3(NF1):c.4425A>G (p.Ala1475=)
|
rs1597745756
|
|
NM_001042492.3(NF1):c.4427G>A (p.Arg1476His)
|
rs1555618691
|
|
NM_001042492.3(NF1):c.4428C>G (p.Arg1476=)
|
|
|
NM_001042492.3(NF1):c.4430+14del
|
rs774927748
|
|
NM_001042492.3(NF1):c.4430+1G>T
|
rs773151680
|
|
NM_001042492.3(NF1):c.4430+2dup
|
|
|
NM_001042492.3(NF1):c.4430G>A (p.Arg1477Lys)
|
rs1060500293
|
|
NM_001042492.3(NF1):c.4431-1G>A
|
rs1597746891
|
|
NM_001042492.3(NF1):c.4431G>A (p.Arg1477=)
|
rs181462219
|
|
NM_001042492.3(NF1):c.4432T>G (p.Phe1478Val)
|
rs1555618802
|
|
NM_001042492.3(NF1):c.4433T>C (p.Phe1478Ser)
|
|
|
NM_001042492.3(NF1):c.4435T>C (p.Phe1479Leu)
|
|
|
NM_001042492.3(NF1):c.4435_4436del (p.Phe1479fs)
|
|
|
NM_001042492.3(NF1):c.4436T>C (p.Phe1479Ser)
|
rs2067662458
|
|
NM_001042492.3(NF1):c.4436dup (p.Leu1480fs)
|
rs1555618803
|
|
NM_001042492.3(NF1):c.4437C>G (p.Phe1479Leu)
|
rs757953485
|
|
NM_001042492.3(NF1):c.443del (p.Asn148fs)
|
|
|
NM_001042492.3(NF1):c.4444A>G (p.Ile1482Val)
|
rs1060500362
|
|
NM_001042492.3(NF1):c.4447G>A (p.Ala1483Thr)
|
rs1555618808
|
|
NM_001042492.3(NF1):c.4449A>G (p.Ala1483=)
|
rs1237298231
|
|
NM_001042492.3(NF1):c.4449A>T (p.Ala1483=)
|
rs1237298231
|
|
NM_001042492.3(NF1):c.4450T>C (p.Ser1484Pro)
|
rs2067662922
|
|
NM_001042492.3(NF1):c.4454A>G (p.Asp1485Gly)
|
rs1279391103
|
|
NM_001042492.3(NF1):c.4455T>C (p.Asp1485=)
|
rs186556778
|
|
NM_001042492.3(NF1):c.4456T>A (p.Cys1486Ser)
|
|
|
NM_001042492.3(NF1):c.4457G>A (p.Cys1486Tyr)
|
|
|
NM_001042492.3(NF1):c.4457_4458delinsAA (p.Cys1486Ter)
|
|
|
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>G (p.Thr1488Ala)
|
rs876660162
|
|
NM_001042492.3(NF1):c.4463C>T (p.Thr1488Ile)
|
rs1597746958
|
|
NM_001042492.3(NF1):c.4465A>G (p.Ser1489Gly)
|
rs199474743
|
|
NM_001042492.3(NF1):c.446A>C (p.Asn149Thr)
|
rs2143673370
|
|
NM_001042492.3(NF1):c.4472C>T (p.Ala1491Val)
|
rs876658334
|
|
NM_001042492.3(NF1):c.4473A>G (p.Ala1491=)
|
rs2067663618
|
|
NM_001042492.3(NF1):c.4476A>G (p.Val1492=)
|
rs1597746972
|
|
NM_001042492.3(NF1):c.4477_4502del (p.Asn1493fs)
|
|
|
NM_001042492.3(NF1):c.4479T>C (p.Asn1493=)
|
rs1060503888
|
|
NM_001042492.3(NF1):c.4481A>G (p.His1494Arg)
|
rs769417700
|
|
NM_001042492.3(NF1):c.4482T>C (p.His1494=)
|
rs2151464642
|
|
NM_001042492.3(NF1):c.4483_4484insC (p.Ser1495fs)
|
|
|
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.4491C>T (p.Ser1497=)
|
rs1555618826
|
|
NM_001042492.3(NF1):c.4494C>T (p.Phe1498=)
|
|
|
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.4499G>C (p.Ser1500Thr)
|
rs1555618829
|
|
NM_001042492.3(NF1):c.449dup (p.Asn151fs)
|
|
|
NM_001042492.3(NF1):c.44G>A (p.Ser15Asn)
|
rs1598173852
|
|
NM_001042492.3(NF1):c.4502A>G (p.Asp1501Gly)
|
rs1555618835
|
|
NM_001042492.3(NF1):c.4505G>A (p.Gly1502Asp)
|
|
|
NM_001042492.3(NF1):c.4506dup (p.Asn1503fs)
|
|
|
NM_001042492.3(NF1):c.4507A>C (p.Asn1503His)
|
rs1555618837
|
|
NM_001042492.3(NF1):c.4507A>G (p.Asn1503Asp)
|
|
|
NM_001042492.3(NF1):c.4509T>C (p.Asn1503=)
|
|
|
NM_001042492.3(NF1):c.4510G>A (p.Val1504Met)
|
rs1555618839
|
|
NM_001042492.3(NF1):c.4512G>T (p.Val1504=)
|
rs1597747038
|
|
NM_001042492.3(NF1):c.4517C>T (p.Ala1506Val)
|
|
|
NM_001042492.3(NF1):c.4520T>C (p.Leu1507Ser)
|
rs1135402863
|
|
NM_001042492.3(NF1):c.4525C>T (p.Arg1509Cys)
|
rs864622348
|
|
NM_001042492.3(NF1):c.4525del (p.Arg1509fs)
|
|
|
NM_001042492.3(NF1):c.4528C>G (p.Leu1510Val)
|
rs1597747076
|
|
NM_001042492.3(NF1):c.4530A>G (p.Leu1510=)
|
rs876660089
|
|
NM_001042492.3(NF1):c.4532T>G (p.Leu1511Arg)
|
rs1135402864
|
|
NM_001042492.3(NF1):c.4533C>G (p.Leu1511=)
|
rs1462064585
|
|
NM_001042492.3(NF1):c.4533C>T (p.Leu1511=)
|
|
|
NM_001042492.3(NF1):c.4536G>C (p.Trp1512Cys)
|
rs878853897
|
|
NM_001042492.3(NF1):c.453T>C (p.Asn151=)
|
|
|
NM_001042492.3(NF1):c.453del (p.Asn151fs)
|
|
|
NM_001042492.3(NF1):c.4540A>T (p.Asn1514Tyr)
|
|
|
NM_001042492.3(NF1):c.4546G>A (p.Glu1516Lys)
|
|
|
NM_001042492.3(NF1):c.4548G>C (p.Glu1516Asp)
|
rs1567863000
|
|
NM_001042492.3(NF1):c.4554T>C (p.Ile1518=)
|
rs1597747129
|
|
NM_001042492.3(NF1):c.4555G>A (p.Gly1519Arg)
|
rs1060500380
|
|
NM_001042492.3(NF1):c.4557_4558delinsTA (p.Gln1520Lys)
|
|
|
NM_001042492.3(NF1):c.4558C>T (p.Gln1520Ter)
|
rs1060500242
|
|
NM_001042492.3(NF1):c.455C>T (p.Ala152Val)
|
|
|
NM_001042492.3(NF1):c.4561dup (p.Tyr1521fs)
|
|
|
NM_001042492.3(NF1):c.4562A>G (p.Tyr1521Cys)
|
rs2067665932
|
|
NM_001042492.3(NF1):c.4565T>C (p.Leu1522Pro)
|
|
|
NM_001042492.3(NF1):c.4568C>G (p.Ser1523Cys)
|
|
|
NM_001042492.3(NF1):c.4569C>G (p.Ser1523=)
|
rs1597747154
|
|
NM_001042492.3(NF1):c.4569C>T (p.Ser1523=)
|
|
|
NM_001042492.3(NF1):c.456A>C (p.Ala152=)
|
rs377481833
|
|
NM_001042492.3(NF1):c.4571G>A (p.Ser1524Asn)
|
|
|
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.4575C>T (p.Asn1525=)
|
rs2151464873
|
|
NM_001042492.3(NF1):c.4576A>G (p.Arg1526Gly)
|
|
|
NM_001042492.3(NF1):c.4577+1G>A
|
rs1279529138
|
|
NM_001042492.3(NF1):c.4577+1del
|
|
|
NM_001042492.3(NF1):c.4577+357T>G
|
|
|
NM_001042492.3(NF1):c.4577+4A>G
|
rs1555618863
|
|
NM_001042492.3(NF1):c.4580A>T (p.Asp1527Val)
|
|
|
NM_001042492.3(NF1):c.4582C>T (p.His1528Tyr)
|
|
|
NM_001042492.3(NF1):c.4587dup (p.Ala1530fs)
|
|
|
NM_001042492.3(NF1):c.4588G>A (p.Ala1530Thr)
|
rs2151466206
|
|
NM_001042492.3(NF1):c.4591G>T (p.Val1531Phe)
|
|
|
NM_001042492.3(NF1):c.4599A>G (p.Arg1533=)
|
rs1597748710
|
|
NM_001042492.3(NF1):c.4599del (p.Arg1533fs)
|
|
|
NM_001042492.3(NF1):c.459C>A (p.Val153=)
|
|
|
NM_001042492.3(NF1):c.459C>T (p.Val153=)
|
|
|
NM_001042492.3(NF1):c.4602A>T (p.Arg1534=)
|
|
|
NM_001042492.3(NF1):c.4607T>C (p.Phe1536Ser)
|
|
|
NM_001042492.3(NF1):c.4608del (p.Phe1536fs)
|
rs2151466252
|
|
NM_001042492.3(NF1):c.4608dup (p.Asp1537Ter)
|
|
|
NM_001042492.3(NF1):c.4615A>G (p.Met1539Val)
|
|
|
NM_001042492.3(NF1):c.4616T>A (p.Met1539Lys)
|
rs1567863578
|
|
NM_001042492.3(NF1):c.4623A>C (p.Thr1541=)
|
rs2151466293
|
|
NM_001042492.3(NF1):c.4624CTT[1] (p.Leu1543del)
|
|
|
NM_001042492.3(NF1):c.4626T>C (p.Leu1542=)
|
rs1555619012
|
|
NM_001042492.3(NF1):c.4628T>C (p.Leu1543Pro)
|
|
|
NM_001042492.3(NF1):c.4629del (p.Ala1544fs)
|
|
|
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.4638G>A (p.Leu1546=)
|
|
|
NM_001042492.3(NF1):c.4647A>G (p.Pro1549=)
|
rs1305841472
|
|
NM_001042492.3(NF1):c.464G>A (p.Ser155Asn)
|
rs1555606113
|
|
NM_001042492.3(NF1):c.4653C>T (p.His1551=)
|
rs2151466362
|
|
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.4658del (p.Pro1553fs)
|
rs1555619029
|
|
NM_001042492.3(NF1):c.4659T>C (p.Pro1553=)
|
|
|
NM_001042492.3(NF1):c.465T>C (p.Ser155=)
|
|
|
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.4669dup (p.Thr1557fs)
|
rs1555619033
|
|
NM_001042492.3(NF1):c.466C>T (p.Arg156Cys)
|
rs755890242
|
|
NM_001042492.3(NF1):c.4670C>T (p.Thr1557Ile)
|
rs876660065
|
|
NM_001042492.3(NF1):c.4673A>G (p.His1558Arg)
|
rs1597748910
|
|
NM_001042492.3(NF1):c.4674C>T (p.His1558=)
|
|
|
NM_001042492.3(NF1):c.4678T>C (p.Ser1560Pro)
|
|
|
NM_001042492.3(NF1):c.467G>T (p.Arg156Leu)
|
rs754096545
|
|
NM_001042492.3(NF1):c.4680C>T (p.Ser1560=)
|
rs2067691696
|
|
NM_001042492.3(NF1):c.4681A>G (p.Ser1561Gly)
|
|
|
NM_001042492.3(NF1):c.4686_4687dup (p.Asn1563fs)
|
|
|
NM_001042492.3(NF1):c.4692dup (p.Thr1565fs)
|
|
|
NM_001042492.3(NF1):c.4693_4694insAA (p.Thr1565fs)
|
|
|
NM_001042492.3(NF1):c.4693dup (p.Thr1565fs)
|
|
|
NM_001042492.3(NF1):c.4694C>G (p.Thr1565Ser)
|
rs2067691859
|
|
NM_001042492.3(NF1):c.4695C>T (p.Thr1565=)
|
rs1555619045
|
|
NM_001042492.3(NF1):c.4698T>C (p.Ser1566=)
|
|
|
NM_001042492.3(NF1):c.4699T>G (p.Ser1567Ala)
|
|
|
NM_001042492.3(NF1):c.469A>G (p.Ile157Val)
|
rs1555606118
|
|
NM_001042492.3(NF1):c.46C>G (p.Arg16Gly)
|
|
|
NM_001042492.3(NF1):c.46C>T (p.Arg16Cys)
|
rs1057520334
|
|
NM_001042492.3(NF1):c.4700C>G (p.Ser1567Ter)
|
rs1555619051
|
|
NM_001042492.3(NF1):c.4700C>T (p.Ser1567Leu)
|
rs1555619051
|
|
NM_001042492.3(NF1):c.4701A>G (p.Ser1567=)
|
rs1597748963
|
|
NM_001042492.3(NF1):c.4704G>A (p.Lys1568=)
|
rs1424931932
|
|
NM_001042492.3(NF1):c.4706T>C (p.Phe1569Ser)
|
|
|
NM_001042492.3(NF1):c.4707del (p.Phe1569fs)
|
|
|
NM_001042492.3(NF1):c.4713A>T (p.Glu1571Asp)
|
|
|
NM_001042492.3(NF1):c.4721C>T (p.Thr1574Ile)
|
rs1567863650
|
|
NM_001042492.3(NF1):c.4722T>G (p.Thr1574=)
|
rs1555619054
|
|
NM_001042492.3(NF1):c.4724+2T>G
|
rs1597748995
|
|
NM_001042492.3(NF1):c.4724+5A>G
|
rs2151466564
|
|
NM_001042492.3(NF1):c.4725-2A>C
|
rs1295045178
|
|
NM_001042492.3(NF1):c.4725-2A>G
|
rs1295045178
|
|
NM_001042492.3(NF1):c.4725-3T>C
|
rs892441625
|
|
NM_001042492.3(NF1):c.4725-4T>C
|
|
|
NM_001042492.3(NF1):c.4728T>C (p.His1576=)
|
|
|
NM_001042492.3(NF1):c.4729C>G (p.Gln1577Glu)
|
|
|
NM_001042492.3(NF1):c.4731G>A (p.Gln1577=)
|
rs2067764593
|
|
NM_001042492.3(NF1):c.4732G>A (p.Val1578Ile)
|
rs1597753156
|
|
NM_001042492.3(NF1):c.4735C>G (p.His1579Asp)
|
|
|
NM_001042492.3(NF1):c.4736A>C (p.His1579Pro)
|
rs1275751975
|
|
NM_001042492.3(NF1):c.4740A>G (p.Glu1580=)
|
|
|
NM_001042492.3(NF1):c.4751del (p.Phe1584fs)
|
rs2151470069
|
|
NM_001042492.3(NF1):c.4752C>T (p.Phe1584=)
|
rs876657545
|
|
NM_001042492.3(NF1):c.4755G>A (p.Lys1585=)
|
|
|
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.4768T>G (p.Leu1590Val)
|
rs1567865010
|
|
NM_001042492.3(NF1):c.4769T>C (p.Leu1590Ser)
|
|
|
NM_001042492.3(NF1):c.4770A>G (p.Leu1590=)
|
rs1567865021
|
|
NM_001042492.3(NF1):c.4772G>A (p.Ser1591Asn)
|
rs1597753246
|
|
NM_001042492.3(NF1):c.4776T>A (p.Ile1592=)
|
rs1346039502
|
|
NM_001042492.3(NF1):c.4780T>C (p.Tyr1594His)
|
|
|
NM_001042492.3(NF1):c.4781A>G (p.Tyr1594Cys)
|
rs1060500303
|
|
NM_001042492.3(NF1):c.4782C>T (p.Tyr1594=)
|
|
|
NM_001042492.3(NF1):c.4787C>G (p.Ala1596Gly)
|
rs1567865042
|
|
NM_001042492.3(NF1):c.4789G>A (p.Gly1597Arg)
|
|
|
NM_001042492.3(NF1):c.479+1G>A
|
rs1555606137
|
|
NM_001042492.3(NF1):c.479+2T>G
|
|
|
NM_001042492.3(NF1):c.479+3T>G
|
rs876658752
|
|
NM_001042492.3(NF1):c.4790G>A (p.Gly1597Glu)
|
|
|
NM_001042492.3(NF1):c.4791G>A (p.Gly1597=)
|
rs1412795566
|
|
NM_001042492.3(NF1):c.4791G>T (p.Gly1597=)
|
rs1412795566
|
|
NM_001042492.3(NF1):c.4792A>G (p.Thr1598Ala)
|
|
|
NM_001042492.3(NF1):c.4795T>C (p.Ser1599Pro)
|
|
|
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.4798A>G (p.Lys1600Glu)
|
|
|
NM_001042492.3(NF1):c.479G>A (p.Arg160Lys)
|
rs199474752
|
|
NM_001042492.3(NF1):c.479G>C (p.Arg160Thr)
|
rs199474752
|
|
NM_001042492.3(NF1):c.47G>C (p.Arg16Pro)
|
rs1555594493
|
|
NM_001042492.3(NF1):c.480-1G>A
|
rs2065902916
|
|
NM_001042492.3(NF1):c.480-4T>A
|
|
|
NM_001042492.3(NF1):c.480-4T>C
|
rs1597643710
|
|
NM_001042492.3(NF1):c.480-5T>C
|
rs1555607069
|
|
NM_001042492.3(NF1):c.480-65G>A
|
|
|
NM_001042492.3(NF1):c.4800A>G (p.Lys1600=)
|
rs1555619409
|
|
NM_001042492.3(NF1):c.4801G>A (p.Ala1601Thr)
|
rs754651519
|
|
NM_001042492.3(NF1):c.4804G>A (p.Gly1602Arg)
|
rs878853898
|
|
NM_001042492.3(NF1):c.4805G>A (p.Gly1602Glu)
|
|
|
NM_001042492.3(NF1):c.4809T>C (p.Asn1603=)
|
rs2067766712
|
|
NM_001042492.3(NF1):c.480G>A (p.Arg160=)
|
rs1555607071
|
|
NM_001042492.3(NF1):c.480G>T (p.Arg160Ser)
|
rs1555607071
|
|
NM_001042492.3(NF1):c.4810C>G (p.Pro1604Ala)
|
|
|
NM_001042492.3(NF1):c.4811C>G (p.Pro1604Arg)
|
rs2067766742
|
|
NM_001042492.3(NF1):c.4813A>T (p.Ile1605Phe)
|
rs199474766
|
|
NM_001042492.3(NF1):c.4821T>C (p.Tyr1607=)
|
rs1555619416
|
|
NM_001042492.3(NF1):c.4821T>G (p.Tyr1607Ter)
|
rs1555619416
|
|
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.4824T>G (p.Tyr1608Ter)
|
rs1567865089
|
|
NM_001042492.3(NF1):c.4825G>A (p.Val1609Ile)
|
rs876658973
|
|
NM_001042492.3(NF1):c.4828G>A (p.Ala1610Thr)
|
rs2067767184
|
|
NM_001042492.3(NF1):c.4829C>T (p.Ala1610Val)
|
|
|
NM_001042492.3(NF1):c.4831C>A (p.Arg1611=)
|
rs1060500316
|
|
NM_001042492.3(NF1):c.4832G>A (p.Arg1611Gln)
|
rs876659197
|
|
NM_001042492.3(NF1):c.4834A>T (p.Arg1612Trp)
|
|
|
NM_001042492.3(NF1):c.4835+4A>C
|
|
|
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.4836-2A>C
|
rs1555533265
|
|
NM_001042492.3(NF1):c.4836-4T>C
|
rs1309702477
|
|
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.4845T>C (p.Thr1615=)
|
rs753606794
|
|
NM_001042492.3(NF1):c.4846G>A (p.Gly1616Ser)
|
rs1555533271
|
|
NM_001042492.3(NF1):c.4847G>T (p.Gly1616Val)
|
|
|
NM_001042492.3(NF1):c.4849C>T (p.Gln1617Ter)
|
|
|
NM_001042492.3(NF1):c.484C>G (p.Gln162Glu)
|
rs1555607073
|
|
NM_001042492.3(NF1):c.484C>T (p.Gln162Ter)
|
rs1555607073
|
|
NM_001042492.3(NF1):c.4852A>G (p.Ile1618Val)
|
|
|
NM_001042492.3(NF1):c.4854C>T (p.Ile1618=)
|
rs1268872486
|
|
NM_001042492.3(NF1):c.4854del (p.Asn1619fs)
|
|
|
NM_001042492.3(NF1):c.4856A>G (p.Asn1619Ser)
|
rs1466167635
|
|
NM_001042492.3(NF1):c.4869G>A (p.Leu1623=)
|
rs1555533279
|
|
NM_001042492.3(NF1):c.486G>A (p.Gln162=)
|
rs1555607076
|
|
NM_001042492.3(NF1):c.4872A>G (p.Ile1624Met)
|
|
|
NM_001042492.3(NF1):c.4873_4874dup (p.His1626fs)
|
rs1555533284
|
|
NM_001042492.3(NF1):c.4874A>G (p.Tyr1625Cys)
|
|
|
NM_001042492.3(NF1):c.4877A>C (p.His1626Pro)
|
|
|
NM_001042492.3(NF1):c.487G>A (p.Glu163Lys)
|
|
|
NM_001042492.3(NF1):c.4885C>G (p.Leu1629Val)
|
|
|
NM_001042492.3(NF1):c.4888A>T (p.Thr1630Ser)
|
|
|
NM_001042492.3(NF1):c.4889C>T (p.Thr1630Ile)
|
|
|
NM_001042492.3(NF1):c.4890T>C (p.Thr1630=)
|
rs2151537674
|
|
NM_001042492.3(NF1):c.4892T>A (p.Leu1631Ter)
|
|
|
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.4897C>G (p.Pro1633Ala)
|
|
|
NM_001042492.3(NF1):c.4899A>C (p.Pro1633=)
|
rs876658422
|
|
NM_001042492.3(NF1):c.4899A>T (p.Pro1633=)
|
rs876658422
|
|
NM_001042492.3(NF1):c.4904A>T (p.Tyr1635Phe)
|
rs786202866
|
|
NM_001042492.3(NF1):c.4905T>C (p.Tyr1635=)
|
rs948982039
|
|
NM_001042492.3(NF1):c.4911G>A (p.Lys1637=)
|
|
|
NM_001042492.3(NF1):c.491T>G (p.Leu164Ter)
|
|
|
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.4925T>A (p.Val1642Glu)
|
rs1555533301
|
|
NM_001042492.3(NF1):c.4926A>G (p.Val1642=)
|
rs2151537784
|
|
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.4928del (p.Val1643fs)
|
rs2151537791
|
|
NM_001042492.3(NF1):c.492_495del (p.Thr165fs)
|
|
|
NM_001042492.3(NF1):c.4930G>T (p.Asp1644Tyr)
|
rs1131691123
|
|
NM_001042492.3(NF1):c.4932C>T (p.Asp1644=)
|
rs1555533304
|
|
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.4935T>C (p.Leu1645=)
|
rs2151537807
|
|
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.4938C>T (p.Thr1646=)
|
rs1555533306
|
|
NM_001042492.3(NF1):c.493A>G (p.Thr165Ala)
|
rs786203186
|
|
NM_001042492.3(NF1):c.4945G>C (p.Gly1649Arg)
|
|
|
NM_001042492.3(NF1):c.4946G>A (p.Gly1649Glu)
|
rs1597829715
|
|
NM_001042492.3(NF1):c.4947G>T (p.Gly1649=)
|
|
|
NM_001042492.3(NF1):c.4947del (p.Pro1650fs)
|
rs2151537841
|
|
NM_001042492.3(NF1):c.4949C>T (p.Pro1650Leu)
|
rs1597829723
|
|
NM_001042492.3(NF1):c.494C>G (p.Thr165Ser)
|
rs876660009
|
|
NM_001042492.3(NF1):c.4950T>C (p.Pro1650=)
|
rs1396903872
|
|
NM_001042492.3(NF1):c.4953C>T (p.Ser1651=)
|
rs941643920
|
|
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.4956T>C (p.Asn1652=)
|
rs1597829740
|
|
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.496_497del (p.Val166fs)
|
rs1135402788
|
|
NM_001042492.3(NF1):c.4972T>A (p.Phe1658Ile)
|
|
|
NM_001042492.3(NF1):c.4976T>G (p.Leu1659Arg)
|
|
|
NM_001042492.3(NF1):c.4977C>G (p.Leu1659=)
|
rs863224355
|
|
NM_001042492.3(NF1):c.4977dup (p.Ser1660fs)
|
rs1597829782
|
|
NM_001042492.3(NF1):c.4979C>G (p.Ser1660Cys)
|
rs2069329686
|
|
NM_001042492.3(NF1):c.4980T>C (p.Ser1660=)
|
|
|
NM_001042492.3(NF1):c.4985G>A (p.Trp1662Ter)
|
rs1567611375
|
|
NM_001042492.3(NF1):c.4986G>A (p.Trp1662Ter)
|
rs2151538007
|
|
NM_001042492.3(NF1):c.4998dup (p.Pro1667fs)
|
rs1135402867
|
|
NM_001042492.3(NF1):c.499_502del (p.Cys167fs)
|
rs786201874
|
|
NM_001042492.3(NF1):c.4G>T (p.Ala2Ser)
|
rs2143144232
|
|
NM_001042492.3(NF1):c.4_5delinsTT (p.Ala2Phe)
|
rs1555594471
|
|
NM_001042492.3(NF1):c.5000C>T (p.Pro1667Leu)
|
|
|
NM_001042492.3(NF1):c.5002G>C (p.Gly1668Arg)
|
|
|
NM_001042492.3(NF1):c.5003G>T (p.Gly1668Val)
|
rs1555533332
|
|
NM_001042492.3(NF1):c.5006_5007dup (p.Ala1670fs)
|
|
|
NM_001042492.3(NF1):c.5007T>G (p.Phe1669Leu)
|
rs761807609
|
|
NM_001042492.3(NF1):c.5013C>G (p.Tyr1671Ter)
|
rs1060500255
|
|
NM_001042492.3(NF1):c.5013C>T (p.Tyr1671=)
|
rs1060500255
|
|
NM_001042492.3(NF1):c.5014G>A (p.Asp1672Asn)
|
rs1483541195
|
|
NM_001042492.3(NF1):c.5015A>T (p.Asp1672Val)
|
rs1555533338
|
|
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.5022C>T (p.Val1674=)
|
rs1597829853
|
|
NM_001042492.3(NF1):c.5026G>T (p.Ala1676Ser)
|
rs756450772
|
|
NM_001042492.3(NF1):c.5030TCTATA[1] (p.Ile1679_Tyr1680del)
|
rs1135402868
|
|
NM_001042492.3(NF1):c.5031C>A (p.Val1677=)
|
|
|
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.5037C>A (p.Ile1679=)
|
|
|
NM_001042492.3(NF1):c.5039A>G (p.Tyr1680Cys)
|
rs758361270
|
|
NM_001042492.3(NF1):c.503C>G (p.Ser168Ter)
|
rs1131691994
|
|
NM_001042492.3(NF1):c.5040T>C (p.Tyr1680=)
|
rs1555533351
|
|
NM_001042492.3(NF1):c.5040dup (p.Asn1681Ter)
|
|
|
NM_001042492.3(NF1):c.5043C>T (p.Asn1681=)
|
|
|
NM_001042492.3(NF1):c.5046del (p.Asn1681_Cys1682insTer)
|
|
|
NM_001042492.3(NF1):c.5057T>A (p.Val1686Asp)
|
|
|
NM_001042492.3(NF1):c.5058C>T (p.Val1686=)
|
rs1315128684
|
|
NM_001042492.3(NF1):c.5059A>G (p.Arg1687Gly)
|
rs746461616
|
|
NM_001042492.3(NF1):c.5060_5069delinsTGTA (p.Arg1687_Thr1690delinsMetTyr)
|
|
|
NM_001042492.3(NF1):c.5061_5064dup (p.Tyr1689fs)
|
|
|
NM_001042492.3(NF1):c.5064G>A (p.Glu1688=)
|
|
|
NM_001042492.3(NF1):c.5067C>A (p.Tyr1689Ter)
|
rs756708811
|
|
NM_001042492.3(NF1):c.5072A>C (p.Lys1691Thr)
|
rs863224661
|
|
NM_001042492.3(NF1):c.5073G>A (p.Lys1691=)
|
rs1597829953
|
|
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.5076T>A (p.Tyr1692Ter)
|
rs1597829961
|
|
NM_001042492.3(NF1):c.5079T>C (p.His1693=)
|
|
|
NM_001042492.3(NF1):c.507A>G (p.Glu169=)
|
rs1597643779
|
|
NM_001042492.3(NF1):c.5080G>T (p.Glu1694Ter)
|
|
|
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.5085G>C (p.Arg1695=)
|
|
|
NM_001042492.3(NF1):c.5087del (p.Leu1696fs)
|
rs1555533368
|
|
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.5095G>A (p.Gly1699Ser)
|
rs1597830004
|
|
NM_001042492.3(NF1):c.5096G>A (p.Gly1699Asp)
|
rs2069333669
|
|
NM_001042492.3(NF1):c.50T>C (p.Phe17Ser)
|
rs1911557433
|
|
NM_001042492.3(NF1):c.5101A>G (p.Lys1701Glu)
|
|
|
NM_001042492.3(NF1):c.5107A>G (p.Ser1703Gly)
|
rs1555533374
|
|
NM_001042492.3(NF1):c.510C>A (p.Asp170Glu)
|
rs1597643788
|
|
NM_001042492.3(NF1):c.5110A>G (p.Lys1704Glu)
|
|
|
NM_001042492.3(NF1):c.5111A>C (p.Lys1704Thr)
|
|
|
NM_001042492.3(NF1):c.5111A>G (p.Lys1704Arg)
|
|
|
NM_001042492.3(NF1):c.5112A>G (p.Lys1704=)
|
|
|
NM_001042492.3(NF1):c.5113A>C (p.Arg1705=)
|
|
|
NM_001042492.3(NF1):c.5114G>A (p.Arg1705Lys)
|
rs876660487
|
|
NM_001042492.3(NF1):c.5115dup (p.Leu1706fs)
|
|
|
NM_001042492.3(NF1):c.5118T>A (p.Leu1706=)
|
rs1597830053
|
|
NM_001042492.3(NF1):c.5128G>A (p.Asp1710Asn)
|
rs1428709938
|
|
NM_001042492.3(NF1):c.512A>T (p.Asn171Ile)
|
|
|
NM_001042492.3(NF1):c.5133T>C (p.Cys1711=)
|
rs2151538622
|
|
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.5141A>C (p.Lys1714Thr)
|
rs2069334864
|
|
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>T (p.His1718Tyr)
|
rs1555533381
|
|
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.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>C (p.His1721=)
|
rs267604792
|
|
NM_001042492.3(NF1):c.5166A>G (p.Glu1722=)
|
rs1597830174
|
|
NM_001042492.3(NF1):c.5166A>T (p.Glu1722Asp)
|
rs1597830174
|
|
NM_001042492.3(NF1):c.5167C>T (p.Gln1723Ter)
|
rs766727694
|
|
NM_001042492.3(NF1):c.5168A>G (p.Gln1723Arg)
|
|
|
NM_001042492.3(NF1):c.5169A>G (p.Gln1723=)
|
rs864622372
|
|
NM_001042492.3(NF1):c.5169A>T (p.Gln1723His)
|
rs864622372
|
|
NM_001042492.3(NF1):c.5175A>G (p.Lys1725=)
|
rs1372069749
|
|
NM_001042492.3(NF1):c.5175A>T (p.Lys1725Asn)
|
|
|
NM_001042492.3(NF1):c.5179C>T (p.Pro1727Ser)
|
|
|
NM_001042492.3(NF1):c.517del (p.Asp173fs)
|
rs1597643815
|
|
NM_001042492.3(NF1):c.5180C>T (p.Pro1727Leu)
|
|
|
NM_001042492.3(NF1):c.5181T>C (p.Pro1727=)
|
rs2151538814
|
|
NM_001042492.3(NF1):c.5182G>A (p.Ala1728Thr)
|
|
|
NM_001042492.3(NF1):c.5186C>T (p.Ala1729Val)
|
|
|
NM_001042492.3(NF1):c.5186_5187insG (p.Thr1730fs)
|
|
|
NM_001042492.3(NF1):c.5188A>G (p.Thr1730Ala)
|
|
|
NM_001042492.3(NF1):c.5189C>G (p.Thr1730Ser)
|
rs772831692
|
|
NM_001042492.3(NF1):c.5190C>T (p.Thr1730=)
|
rs143230984
|
|
NM_001042492.3(NF1):c.5191T>C (p.Leu1731=)
|
rs876658602
|
|
NM_001042492.3(NF1):c.5191T>G (p.Leu1731Val)
|
rs876658602
|
|
NM_001042492.3(NF1):c.5195C>G (p.Ala1732Gly)
|
rs202037436
|
|
NM_001042492.3(NF1):c.5206G>A (p.Asp1736Asn)
|
|
|
NM_001042492.3(NF1):c.5208C>T (p.Asp1736=)
|
rs757260226
|
|
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.520del (p.Val174fs)
|
|
|
NM_001042492.3(NF1):c.5210T>C (p.Leu1737Pro)
|
|
|
NM_001042492.3(NF1):c.5215G>A (p.Val1739Ile)
|
|
|
NM_001042492.3(NF1):c.5215G>C (p.Val1739Leu)
|
rs876659956
|
|
NM_001042492.3(NF1):c.5221C>A (p.His1741Asn)
|
rs780529277
|
|
NM_001042492.3(NF1):c.5222A>T (p.His1741Leu)
|
rs1555533402
|
|
NM_001042492.3(NF1):c.5223C>G (p.His1741Gln)
|
|
|
NM_001042492.3(NF1):c.5226T>C (p.Asn1742=)
|
rs1597830255
|
|
NM_001042492.3(NF1):c.5227G>C (p.Ala1743Pro)
|
rs878853900
|
|
NM_001042492.3(NF1):c.5228C>G (p.Ala1743Gly)
|
|
|
NM_001042492.3(NF1):c.5229T>G (p.Ala1743=)
|
|
|
NM_001042492.3(NF1):c.5238A>G (p.Leu1746=)
|
rs779689556
|
|
NM_001042492.3(NF1):c.5238A>T (p.Leu1746=)
|
|
|
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.5247dup (p.Asp1750fs)
|
rs1555533409
|
|
NM_001042492.3(NF1):c.5250C>G (p.Asp1750Glu)
|
|
|
NM_001042492.3(NF1):c.5250C>T (p.Asp1750=)
|
rs1210732116
|
|
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>T (p.Lys1752Ter)
|
|
|
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.5265_5268del (p.Ile1755fs)
|
|
|
NM_001042492.3(NF1):c.5265del (p.Val1757fs)
|
|
|
NM_001042492.3(NF1):c.5268+2T>A
|
|
|
NM_001042492.3(NF1):c.5268+2dup
|
|
|
NM_001042492.3(NF1):c.5268+3A>T
|
|
|
NM_001042492.3(NF1):c.5268+5_5268+6del
|
|
|
NM_001042492.3(NF1):c.5269-4C>A
|
|
|
NM_001042492.3(NF1):c.5269-4C>G
|
rs1555533547
|
|
NM_001042492.3(NF1):c.5269-5del
|
|
|
NM_001042492.3(NF1):c.5269G>A (p.Val1757Ile)
|
|
|
NM_001042492.3(NF1):c.5269G>T (p.Val1757Phe)
|
|
|
NM_001042492.3(NF1):c.526G>T (p.Asp176Tyr)
|
|
|
NM_001042492.3(NF1):c.5274T>C (p.Gly1758=)
|
rs2151540780
|
|
NM_001042492.3(NF1):c.5275T>C (p.Ser1759Pro)
|
rs2069375050
|
|
NM_001042492.3(NF1):c.5276C>A (p.Ser1759Tyr)
|
|
|
NM_001042492.3(NF1):c.5276C>G (p.Ser1759Cys)
|
|
|
NM_001042492.3(NF1):c.5280T>G (p.Thr1760=)
|
|
|
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>T (p.Ala1761Val)
|
|
|
NM_001042492.3(NF1):c.5290G>T (p.Val1764Leu)
|
rs778427434
|
|
NM_001042492.3(NF1):c.5295T>C (p.Thr1765=)
|
rs1286956337
|
|
NM_001042492.3(NF1):c.5298A>C (p.Ser1766=)
|
rs1597831887
|
|
NM_001042492.3(NF1):c.5299G>A (p.Ala1767Thr)
|
rs529905904
|
|
NM_001042492.3(NF1):c.529A>C (p.Ile177Leu)
|
|
|
NM_001042492.3(NF1):c.5305C>T (p.Arg1769Ter)
|
rs876657714
|
|
NM_001042492.3(NF1):c.5306G>A (p.Arg1769Gln)
|
rs1555533559
|
|
NM_001042492.3(NF1):c.5309C>T (p.Thr1770Ile)
|
|
|
NM_001042492.3(NF1):c.5310A>G (p.Thr1770=)
|
|
|
NM_001042492.3(NF1):c.5311A>G (p.Lys1771Glu)
|
rs1131691103
|
|
NM_001042492.3(NF1):c.5313del (p.Val1772fs)
|
rs2151540910
|
|
NM_001042492.3(NF1):c.5315T>A (p.Val1772Asp)
|
rs1209831572
|
|
NM_001042492.3(NF1):c.5316C>T (p.Val1772=)
|
|
|
NM_001042492.3(NF1):c.5317C>G (p.Leu1773Val)
|
|
|
NM_001042492.3(NF1):c.5317C>T (p.Leu1773=)
|
rs1597831909
|
|
NM_001042492.3(NF1):c.5318T>C (p.Leu1773Pro)
|
rs1597831917
|
|
NM_001042492.3(NF1):c.5318_5319del (p.Leu1773fs)
|
|
|
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.5325A>G (p.Gln1775=)
|
rs2069376896
|
|
NM_001042492.3(NF1):c.5327C>G (p.Ser1776Ter)
|
rs2069376973
|
|
NM_001042492.3(NF1):c.5327del (p.Gln1775_Ser1776insTer)
|
rs1131691128
|
|
NM_001042492.3(NF1):c.5328A>G (p.Ser1776=)
|
rs759639187
|
|
NM_001042492.3(NF1):c.5329del (p.Val1777fs)
|
rs2069377259
|
|
NM_001042492.3(NF1):c.5332T>C (p.Phe1778Leu)
|
|
|
NM_001042492.3(NF1):c.533A>T (p.Glu178Val)
|
|
|
NM_001042492.3(NF1):c.5344A>C (p.Ile1782Leu)
|
rs1160436761
|
|
NM_001042492.3(NF1):c.5346T>A (p.Ile1782=)
|
rs1597831959
|
|
NM_001042492.3(NF1):c.5348A>G (p.Tyr1783Cys)
|
rs1597831963
|
|
NM_001042492.3(NF1):c.5351A>G (p.Tyr1784Cys)
|
rs1060500280
|
|
NM_001042492.3(NF1):c.5352T>G (p.Tyr1784Ter)
|
|
|
NM_001042492.3(NF1):c.5353G>A (p.Ala1785Thr)
|
|
|
NM_001042492.3(NF1):c.5356del (p.Ser1786fs)
|
|
|
NM_001042492.3(NF1):c.5358G>C (p.Ser1786=)
|
rs373313111
|
|
NM_001042492.3(NF1):c.5362A>G (p.Ile1788Val)
|
rs2069378035
|
|
NM_001042492.3(NF1):c.5364del (p.Ile1788fs)
|
rs1597831986
|
|
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.5373C>T (p.Ile1791=)
|
rs1597831996
|
|
NM_001042492.3(NF1):c.5376C>A (p.Cys1792Ter)
|
rs1597832002
|
|
NM_001042492.3(NF1):c.5377C>A (p.Leu1793Ile)
|
rs761676110
|
|
NM_001042492.3(NF1):c.537G>A (p.Leu179=)
|
rs1555607095
|
|
NM_001042492.3(NF1):c.537G>T (p.Leu179Phe)
|
|
|
NM_001042492.3(NF1):c.5380G>A (p.Val1794Ile)
|
rs1555533574
|
|
NM_001042492.3(NF1):c.5385T>C (p.Asp1795=)
|
|
|
NM_001042492.3(NF1):c.5385T>G (p.Asp1795Glu)
|
rs1135402870
|
|
NM_001042492.3(NF1):c.5390A>G (p.Asn1797Ser)
|
|
|
NM_001042492.3(NF1):c.5391_5393dup (p.Asn1797_Gln1798insHis)
|
|
|
NM_001042492.3(NF1):c.5395T>G (p.Phe1799Val)
|
|
|
NM_001042492.3(NF1):c.5397C>T (p.Phe1799=)
|
rs878853901
|
|
NM_001042492.3(NF1):c.539del (p.Leu180fs)
|
|
|
NM_001042492.3(NF1):c.53A>G (p.Asp18Gly)
|
|
|
NM_001042492.3(NF1):c.5400C>T (p.Thr1800=)
|
|
|
NM_001042492.3(NF1):c.5400del (p.Thr1800_Leu1801insTer)
|
|
|
NM_001042492.3(NF1):c.5406C>A (p.Thr1802=)
|
rs895918165
|
|
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.5412A>T (p.Ala1804=)
|
|
|
NM_001042492.3(NF1):c.5413A>G (p.Asn1805Asp)
|
rs1287561681
|
|
NM_001042492.3(NF1):c.5416dup (p.Gln1806fs)
|
|
|
NM_001042492.3(NF1):c.541C>T (p.Gln181Ter)
|
rs753529924
|
|
NM_001042492.3(NF1):c.5420G>A (p.Gly1807Asp)
|
|
|
NM_001042492.3(NF1):c.5421C>T (p.Gly1807=)
|
rs1060500279
|
|
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.5434T>C (p.Phe1812Leu)
|
rs2069380487
|
|
NM_001042492.3(NF1):c.5438T>C (p.Met1813Thr)
|
|
|
NM_001042492.3(NF1):c.5439G>C (p.Met1813Ile)
|
|
|
NM_001042492.3(NF1):c.543G>A (p.Gln181=)
|
rs2143707678
|
|
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.5442C>T (p.His1814=)
|
rs991848606
|
|
NM_001042492.3(NF1):c.5443C>G (p.Gln1815Glu)
|
rs1555533587
|
|
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.5457C>T (p.Ala1819=)
|
rs2069381058
|
|
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.5460T>A (p.Ile1820=)
|
|
|
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.5464C>T (p.Gln1822Ter)
|
rs2069381323
|
|
NM_001042492.3(NF1):c.5465A>C (p.Gln1822Pro)
|
rs1060500328
|
|
NM_001042492.3(NF1):c.5467T>A (p.Ser1823Thr)
|
|
|
NM_001042492.3(NF1):c.5467T>C (p.Ser1823Pro)
|
rs1555533592
|
|
NM_001042492.3(NF1):c.5469T>C (p.Ser1823=)
|
|
|
NM_001042492.3(NF1):c.5471T>G (p.Ile1824Ser)
|
|
|
NM_001042492.3(NF1):c.5472C>A (p.Ile1824=)
|
rs758784558
|
|
NM_001042492.3(NF1):c.5472C>T (p.Ile1824=)
|
|
|
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.547A>G (p.Ile183Val)
|
|
|
NM_001042492.3(NF1):c.5480T>G (p.Ile1827Ser)
|
|
|
NM_001042492.3(NF1):c.5481C>G (p.Ile1827Met)
|
rs1555533607
|
|
NM_001042492.3(NF1):c.5481C>T (p.Ile1827=)
|
rs1555533607
|
|
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.5486C>A (p.Thr1829Asn)
|
|
|
NM_001042492.3(NF1):c.5488del (p.Arg1830fs)
|
|
|
NM_001042492.3(NF1):c.5489G>A (p.Arg1830His)
|
rs771529172
|
|
NM_001042492.3(NF1):c.5489G>T (p.Arg1830Leu)
|
rs771529172
|
|
NM_001042492.3(NF1):c.5494G>C (p.Glu1832Gln)
|
|
|
NM_001042492.3(NF1):c.5496A>G (p.Glu1832=)
|
rs1555533613
|
|
NM_001042492.3(NF1):c.5496del (p.Glu1832fs)
|
rs2151541558
|
|
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>A (p.Ile183=)
|
|
|
NM_001042492.3(NF1):c.54C>T (p.Asp18=)
|
rs1598173882
|
|
NM_001042492.3(NF1):c.5504A>G (p.Gln1835Arg)
|
rs876660025
|
|
NM_001042492.3(NF1):c.5505G>A (p.Gln1835=)
|
rs1555533615
|
|
NM_001042492.3(NF1):c.5505G>T (p.Gln1835His)
|
rs1555533615
|
|
NM_001042492.3(NF1):c.5514_5517del (p.Ile1839fs)
|
rs1555533621
|
|
NM_001042492.3(NF1):c.5516T>C (p.Ile1839Thr)
|
rs1597832296
|
|
NM_001042492.3(NF1):c.5516dup (p.Gln1841fs)
|
|
|
NM_001042492.3(NF1):c.5517C>A (p.Ile1839=)
|
rs865839207
|
|
NM_001042492.3(NF1):c.551A>T (p.Asn184Ile)
|
|
|
NM_001042492.3(NF1):c.5521C>T (p.Gln1841Ter)
|
rs786203570
|
|
NM_001042492.3(NF1):c.5522A>G (p.Gln1841Arg)
|
|
|
NM_001042492.3(NF1):c.5524C>G (p.His1842Asp)
|
rs1597832336
|
|
NM_001042492.3(NF1):c.5524C>T (p.His1842Tyr)
|
|
|
NM_001042492.3(NF1):c.5527_5528del (p.Thr1843fs)
|
|
|
NM_001042492.3(NF1):c.5529C>T (p.Thr1843=)
|
|
|
NM_001042492.3(NF1):c.552T>C (p.Asn184=)
|
|
|
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.5535del (p.Arg1846fs)
|
rs1567612647
|
|
NM_001042492.3(NF1):c.5536C>A (p.Arg1846=)
|
|
|
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.5539C>T (p.Pro1847Ser)
|
rs2069384394
|
|
NM_001042492.3(NF1):c.5540C>G (p.Pro1847Arg)
|
rs1555533631
|
|
NM_001042492.3(NF1):c.5540C>T (p.Pro1847Leu)
|
rs1555533631
|
|
NM_001042492.3(NF1):c.5541A>G (p.Pro1847=)
|
rs775779014
|
|
NM_001042492.3(NF1):c.5544del (p.Asp1849fs)
|
|
|
NM_001042492.3(NF1):c.5545G>C (p.Asp1849His)
|
|
|
NM_001042492.3(NF1):c.5546A>G (p.Asp1849Gly)
|
|
|
NM_001042492.3(NF1):c.5548G>A (p.Val1850Ile)
|
rs1597832397
|
|
NM_001042492.3(NF1):c.5550C>A (p.Val1850=)
|
|
|
NM_001042492.3(NF1):c.5556G>A (p.Gly1852=)
|
rs763146785
|
|
NM_001042492.3(NF1):c.555G>C (p.Val185=)
|
|
|
NM_001042492.3(NF1):c.555G>T (p.Val185=)
|
|
|
NM_001042492.3(NF1):c.5561T>G (p.Leu1854Arg)
|
rs878853903
|
|
NM_001042492.3(NF1):c.5563C>T (p.Leu1855Phe)
|
rs2069385474
|
|
NM_001042492.3(NF1):c.5564T>C (p.Leu1855Pro)
|
rs2069385520
|
|
NM_001042492.3(NF1):c.5565C>T (p.Leu1855=)
|
|
|
NM_001042492.3(NF1):c.5566A>G (p.Asn1856Asp)
|
|
|
NM_001042492.3(NF1):c.5567del (p.Asn1856fs)
|
|
|
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.5581_5586delinsG (p.Asn1861fs)
|
|
|
NM_001042492.3(NF1):c.5582A>G (p.Asn1861Ser)
|
rs1555533647
|
|
NM_001042492.3(NF1):c.5585T>A (p.Leu1862Ter)
|
rs2151541881
|
|
NM_001042492.3(NF1):c.5586A>G (p.Leu1862=)
|
|
|
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.558T>C (p.Asp186=)
|
|
|
NM_001042492.3(NF1):c.5594C>G (p.Ser1865Cys)
|
|
|
NM_001042492.3(NF1):c.5594_5595del (p.Ser1864_Ser1865insTer)
|
rs1555533650
|
|
NM_001042492.3(NF1):c.5597A>G (p.Asp1866Gly)
|
|
|
NM_001042492.3(NF1):c.55G>A (p.Glu19Lys)
|
rs786203307
|
|
NM_001042492.3(NF1):c.5609+1G>A
|
rs1131691117
|
|
NM_001042492.3(NF1):c.5609+4G>A
|
|
|
NM_001042492.3(NF1):c.5609+5G>A
|
rs1597832498
|
|
NM_001042492.3(NF1):c.5609G>A (p.Arg1870Gln)
|
rs786202112
|
|
NM_001042492.3(NF1):c.5609G>C (p.Arg1870Pro)
|
|
|
NM_001042492.3(NF1):c.5610-1G>C
|
rs1567613569
|
|
NM_001042492.3(NF1):c.5610-1G>T
|
|
|
NM_001042492.3(NF1):c.5610-2A>C
|
|
|
NM_001042492.3(NF1):c.5610-2A>G
|
rs1135402876
|
|
NM_001042492.3(NF1):c.5610-5C>G
|
rs2151544379
|
|
NM_001042492.3(NF1):c.5610-5C>T
|
rs2151544379
|
|
NM_001042492.3(NF1):c.5617G>A (p.Ala1873Thr)
|
rs1597834618
|
|
NM_001042492.3(NF1):c.5617del (p.Ala1873fs)
|
|
|
NM_001042492.3(NF1):c.5619C>T (p.Ala1873=)
|
|
|
NM_001042492.3(NF1):c.5619del (p.Tyr1874fs)
|
rs1555533842
|
|
NM_001042492.3(NF1):c.5621A>T (p.Tyr1874Phe)
|
|
|
NM_001042492.3(NF1):c.5622T>C (p.Tyr1874=)
|
|
|
NM_001042492.3(NF1):c.5625T>C (p.Asn1875=)
|
rs1275173622
|
|
NM_001042492.3(NF1):c.5625_5630delinsG (p.Asn1875fs)
|
rs1131691081
|
|
NM_001042492.3(NF1):c.5627T>A (p.Leu1876His)
|
|
|
NM_001042492.3(NF1):c.562G>A (p.Ala188Thr)
|
rs778975931
|
|
NM_001042492.3(NF1):c.5631G>T (p.Leu1877=)
|
rs1555533844
|
|
NM_001042492.3(NF1):c.5636C>T (p.Ala1879Val)
|
rs1555533845
|
|
NM_001042492.3(NF1):c.5641A>T (p.Thr1881Ser)
|
|
|
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.5643T>C (p.Thr1881=)
|
|
|
NM_001042492.3(NF1):c.5645G>A (p.Cys1882Tyr)
|
rs1597834656
|
|
NM_001042492.3(NF1):c.5648C>T (p.Thr1883Ile)
|
|
|
NM_001042492.3(NF1):c.5652T>C (p.Phe1884=)
|
rs1567613616
|
|
NM_001042492.3(NF1):c.5655T>C (p.Asn1885=)
|
|
|
NM_001042492.3(NF1):c.5668G>A (p.Gly1890Ser)
|
|
|
NM_001042492.3(NF1):c.5669G>T (p.Gly1890Val)
|
rs1567613630
|
|
NM_001042492.3(NF1):c.5673G>T (p.Gln1891His)
|
rs1555533857
|
|
NM_001042492.3(NF1):c.5677C>G (p.Leu1893Val)
|
|
|
NM_001042492.3(NF1):c.5677C>T (p.Leu1893=)
|
rs1597834730
|
|
NM_001042492.3(NF1):c.5679A>G (p.Leu1893=)
|
rs2151544593
|
|
NM_001042492.3(NF1):c.567A>C (p.Lys189Asn)
|
|
|
NM_001042492.3(NF1):c.567A>G (p.Lys189=)
|
rs1567820796
|
|
NM_001042492.3(NF1):c.5686dup (p.Ser1896fs)
|
|
|
NM_001042492.3(NF1):c.5687C>G (p.Ser1896Ter)
|
rs1135402879
|
|
NM_001042492.3(NF1):c.5688A>G (p.Ser1896=)
|
rs1597834745
|
|
NM_001042492.3(NF1):c.568T>C (p.Leu190=)
|
|
|
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.5698A>G (p.Ile1900Val)
|
|
|
NM_001042492.3(NF1):c.5700C>A (p.Ile1900=)
|
rs763851410
|
|
NM_001042492.3(NF1):c.5700C>T (p.Ile1900=)
|
rs763851410
|
|
NM_001042492.3(NF1):c.5703T>A (p.Pro1901=)
|
|
|
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.5708del (p.Asn1903fs)
|
|
|
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.5715C>G (p.Thr1905=)
|
|
|
NM_001042492.3(NF1):c.5718C>G (p.Leu1906=)
|
rs2151544713
|
|
NM_001042492.3(NF1):c.5719T>C (p.Phe1907Leu)
|
rs876660040
|
|
NM_001042492.3(NF1):c.5721T>A (p.Phe1907Leu)
|
rs1555533868
|
|
NM_001042492.3(NF1):c.5721T>C (p.Phe1907=)
|
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.572A>C (p.Lys191Thr)
|
rs1555607113
|
|
NM_001042492.3(NF1):c.5737A>T (p.Lys1913Ter)
|
rs1597834842
|
|
NM_001042492.3(NF1):c.5741C>A (p.Thr1914Lys)
|
rs1555533873
|
|
NM_001042492.3(NF1):c.5742A>T (p.Thr1914=)
|
rs1555533874
|
|
NM_001042492.3(NF1):c.5743C>G (p.Leu1915Val)
|
|
|
NM_001042492.3(NF1):c.5744T>C (p.Leu1915Pro)
|
rs1555533875
|
|
NM_001042492.3(NF1):c.5746dup (p.Ala1916fs)
|
|
|
NM_001042492.3(NF1):c.5747C>T (p.Ala1916Val)
|
|
|
NM_001042492.3(NF1):c.5750C>A (p.Ala1917Asp)
|
rs2069452996
|
|
NM_001042492.3(NF1):c.5752A>G (p.Asn1918Asp)
|
|
|
NM_001042492.3(NF1):c.5754T>C (p.Asn1918=)
|
rs1555533879
|
|
NM_001042492.3(NF1):c.5764C>T (p.Leu1922Phe)
|
rs1597834892
|
|
NM_001042492.3(NF1):c.5766C>A (p.Leu1922=)
|
|
|
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.5768_5769insA (p.Leu1924fs)
|
|
|
NM_001042492.3(NF1):c.576A>C (p.Arg192=)
|
|
|
NM_001042492.3(NF1):c.576dup (p.Leu193fs)
|
|
|
NM_001042492.3(NF1):c.5771T>G (p.Leu1924Ter)
|
|
|
NM_001042492.3(NF1):c.5784A>G (p.Glu1928=)
|
|
|
NM_001042492.3(NF1):c.5785G>C (p.Glu1929Gln)
|
|
|
NM_001042492.3(NF1):c.5786del (p.Glu1929fs)
|
rs1555533883
|
|
NM_001042492.3(NF1):c.5788T>A (p.Cys1930Ser)
|
rs2069454402
|
|
NM_001042492.3(NF1):c.5792T>A (p.Ile1931Asn)
|
|
|
NM_001042492.3(NF1):c.5792_5812+7del
|
|
|
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.5804G>A (p.Ser1935Asn)
|
|
|
NM_001042492.3(NF1):c.5810C>A (p.Ser1937Tyr)
|
|
|
NM_001042492.3(NF1):c.5812+2dup
|
rs1597834973
|
|
NM_001042492.3(NF1):c.5812+3A>G
|
rs1597834976
|
|
NM_001042492.3(NF1):c.5812A>G (p.Ser1938Gly)
|
rs1555533885
|
|
NM_001042492.3(NF1):c.5813-184_5813-178dup
|
|
|
NM_001042492.3(NF1):c.5813-271A>G
|
|
|
NM_001042492.3(NF1):c.5813-3C>T
|
rs2151550224
|
|
NM_001042492.3(NF1):c.5813-5del
|
rs775451791
|
|
NM_001042492.3(NF1):c.5813G>A (p.Ser1938Asn)
|
rs906075234
|
|
NM_001042492.3(NF1):c.5815A>G (p.Ile1939Val)
|
rs1173859882
|
|
NM_001042492.3(NF1):c.5816T>C (p.Ile1939Thr)
|
rs1304057833
|
|
NM_001042492.3(NF1):c.5818G>T (p.Glu1940Ter)
|
rs1376900184
|
|
NM_001042492.3(NF1):c.5821T>A (p.Leu1941Met)
|
|
|
NM_001042492.3(NF1):c.5821T>C (p.Leu1941=)
|
rs2151550259
|
|
NM_001042492.3(NF1):c.5821_5825del (p.Leu1941fs)
|
rs2151550241
|
|
NM_001042492.3(NF1):c.5826A>G (p.Lys1942=)
|
rs111842743
|
|
NM_001042492.3(NF1):c.5829_5830insTG (p.Leu1944fs)
|
rs1597840008
|
|
NM_001042492.3(NF1):c.5834G>A (p.Cys1945Tyr)
|
|
|
NM_001042492.3(NF1):c.5836T>C (p.Leu1946=)
|
|
|
NM_001042492.3(NF1):c.5837T>G (p.Leu1946Trp)
|
rs1597840024
|
|
NM_001042492.3(NF1):c.5838G>A (p.Leu1946=)
|
|
|
NM_001042492.3(NF1):c.5851C>G (p.Pro1951Ala)
|
rs1555534391
|
|
NM_001042492.3(NF1):c.5852C>A (p.Pro1951Gln)
|
|
|
NM_001042492.3(NF1):c.5853A>G (p.Pro1951=)
|
|
|
NM_001042492.3(NF1):c.5853A>T (p.Pro1951=)
|
|
|
NM_001042492.3(NF1):c.5853_5855delinsC (p.Trp1952fs)
|
|
|
NM_001042492.3(NF1):c.5854T>C (p.Trp1952Arg)
|
rs199474791
|
|
NM_001042492.3(NF1):c.5857C>T (p.Leu1953=)
|
rs1555534394
|
|
NM_001042492.3(NF1):c.586+1G>A
|
rs1555607126
|
|
NM_001042492.3(NF1):c.586+2T>A
|
|
|
NM_001042492.3(NF1):c.586+3A>C
|
|
|
NM_001042492.3(NF1):c.586+4A>G
|
rs1597644028
|
|
NM_001042492.3(NF1):c.5861C>A (p.Ser1954Ter)
|
|
|
NM_001042492.3(NF1):c.5861C>G (p.Ser1954Ter)
|
rs2069602711
|
|
NM_001042492.3(NF1):c.5865T>C (p.Asn1955=)
|
rs863224356
|
|
NM_001042492.3(NF1):c.5866C>A (p.Leu1956Ile)
|
rs747678243
|
|
NM_001042492.3(NF1):c.5866del (p.Asn1955_Leu1956insTer)
|
|
|
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.587-14T>A
|
rs940581106
|
|
NM_001042492.3(NF1):c.587-1G>C
|
|
|
NM_001042492.3(NF1):c.587-3C>G
|
rs375188075
|
|
NM_001042492.3(NF1):c.587-6_587-5del
|
rs759349569
|
|
NM_001042492.3(NF1):c.5870T>G (p.Val1957Gly)
|
|
|
NM_001042492.3(NF1):c.5877T>C (p.Phe1959=)
|
|
|
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.5891A>G (p.Asp1964Gly)
|
|
|
NM_001042492.3(NF1):c.5894_5895del (p.Asp1965fs)
|
|
|
NM_001042492.3(NF1):c.5897C>T (p.Ala1966Val)
|
|
|
NM_001042492.3(NF1):c.5898C>G (p.Ala1966=)
|
rs2151550470
|
|
NM_001042492.3(NF1):c.5898C>T (p.Ala1966=)
|
|
|
NM_001042492.3(NF1):c.589A>G (p.Thr197Ala)
|
rs1171626658
|
|
NM_001042492.3(NF1):c.58C>G (p.Gln20Glu)
|
rs1567786905
|
|
NM_001042492.3(NF1):c.58C>T (p.Gln20Ter)
|
rs1567786905
|
|
NM_001042492.3(NF1):c.5900A>G (p.Lys1967Arg)
|
rs1567615807
|
|
NM_001042492.3(NF1):c.5902C>A (p.Arg1968=)
|
rs137854552
|
|
NM_001042492.3(NF1):c.5902C>T (p.Arg1968Ter)
|
rs137854552
|
|
NM_001042492.3(NF1):c.5903G>A (p.Arg1968Gln)
|
|
|
NM_001042492.3(NF1):c.5904A>T (p.Arg1968=)
|
|
|
NM_001042492.3(NF1):c.5916T>G (p.Thr1972=)
|
|
|
NM_001042492.3(NF1):c.5918C>G (p.Ala1973Gly)
|
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.5925del (p.Asp1976fs)
|
rs1060500349
|
|
NM_001042492.3(NF1):c.5926G>C (p.Asp1976His)
|
|
|
NM_001042492.3(NF1):c.5927A>G (p.Asp1976Gly)
|
|
|
NM_001042492.3(NF1):c.5928C>A (p.Asp1976Glu)
|
rs568852704
|
|
NM_001042492.3(NF1):c.592G>A (p.Ala198Thr)
|
rs1555608643
|
|
NM_001042492.3(NF1):c.5931G>C (p.Lys1977Asn)
|
|
|
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.5940A>G (p.Thr1980=)
|
rs1555534422
|
|
NM_001042492.3(NF1):c.5943_5965dup (p.Tyr1989Ter)
|
|
|
NM_001042492.3(NF1):c.5946C>T (p.Thr1982=)
|
rs1555534423
|
|
NM_001042492.3(NF1):c.594A>G (p.Ala198=)
|
rs138411879
|
|
NM_001042492.3(NF1):c.5959C>G (p.Gln1987Glu)
|
rs876659070
|
|
NM_001042492.3(NF1):c.5961G>C (p.Gln1987His)
|
rs757536610
|
|
NM_001042492.3(NF1):c.596T>A (p.Phe199Tyr)
|
|
|
NM_001042492.3(NF1):c.5970A>C (p.Pro1990=)
|
rs876658601
|
|
NM_001042492.3(NF1):c.5971T>A (p.Ser1991Thr)
|
|
|
NM_001042492.3(NF1):c.5971_5978del (p.Ile1992fs)
|
rs1597840273
|
|
NM_001042492.3(NF1):c.5976T>C (p.Ile1992=)
|
rs766233634
|
|
NM_001042492.3(NF1):c.5977C>T (p.Gln1993Ter)
|
|
|
NM_001042492.3(NF1):c.5982A>C (p.Ala1994=)
|
|
|
NM_001042492.3(NF1):c.5989T>C (p.Trp1997Arg)
|
rs1597840306
|
|
NM_001042492.3(NF1):c.5990G>A (p.Trp1997Ter)
|
|
|
NM_001042492.3(NF1):c.5995A>T (p.Ser1999Cys)
|
rs753703741
|
|
NM_001042492.3(NF1):c.5997C>T (p.Ser1999=)
|
rs2069608865
|
|
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.59A>G (p.Gln20Arg)
|
rs1598173901
|
|
NM_001042492.3(NF1):c.60+1del
|
|
|
NM_001042492.3(NF1):c.60+2T>C
|
rs2143145948
|
|
NM_001042492.3(NF1):c.60+4A>G
|
rs1911560774
|
|
NM_001042492.3(NF1):c.60+5C>T
|
rs879413062
|
|
NM_001042492.3(NF1):c.6003G>A (p.Gly2001=)
|
rs1346833291
|
|
NM_001042492.3(NF1):c.6003_6006+1dup
|
|
|
NM_001042492.3(NF1):c.6004C>T (p.Gln2002Ter)
|
rs1567615941
|
|
NM_001042492.3(NF1):c.6005A>C (p.Gln2002Pro)
|
|
|
NM_001042492.3(NF1):c.6006+1G>A
|
rs1555534433
|
|
NM_001042492.3(NF1):c.6006+5_6006+25del
|
rs1555534435
|
|
NM_001042492.3(NF1):c.6007-1G>C
|
rs1555534596
|
|
NM_001042492.3(NF1):c.6007-2A>G
|
rs1555534595
|
|
NM_001042492.3(NF1):c.6007-2_6007del
|
rs1597842196
|
|
NM_001042492.3(NF1):c.6007-3T>C
|
|
|
NM_001042492.3(NF1):c.6007-4C>T
|
|
|
NM_001042492.3(NF1):c.6007-5A>G
|
rs267606604
|
|
NM_001042492.3(NF1):c.6009T>G (p.Ile2003Met)
|
|
|
NM_001042492.3(NF1):c.6009del (p.Thr2004fs)
|
rs1179712488
|
|
NM_001042492.3(NF1):c.6011C>T (p.Thr2004Ile)
|
rs1597842207
|
|
NM_001042492.3(NF1):c.6013del (p.Asp2005fs)
|
rs1597842221
|
|
NM_001042492.3(NF1):c.6016C>T (p.Leu2006=)
|
rs2151553176
|
|
NM_001042492.3(NF1):c.6017T>C (p.Leu2006Pro)
|
|
|
NM_001042492.3(NF1):c.6019C>G (p.Leu2007Val)
|
|
|
NM_001042492.3(NF1):c.6028G>C (p.Val2010Leu)
|
|
|
NM_001042492.3(NF1):c.6030A>G (p.Val2010=)
|
|
|
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.603T>C (p.Phe201=)
|
rs1597658060
|
|
NM_001042492.3(NF1):c.6043A>G (p.Ile2015Val)
|
rs2151553260
|
|
NM_001042492.3(NF1):c.6045C>A (p.Ile2015=)
|
rs1433863184
|
|
NM_001042492.3(NF1):c.6049_6050del (p.Thr2017fs)
|
|
|
NM_001042492.3(NF1):c.6051C>T (p.Thr2017=)
|
|
|
NM_001042492.3(NF1):c.6052A>C (p.Ser2018Arg)
|
rs2151553286
|
|
NM_001042492.3(NF1):c.6053G>A (p.Ser2018Asn)
|
rs2069669492
|
|
NM_001042492.3(NF1):c.6054T>G (p.Ser2018Arg)
|
rs1555534600
|
|
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.6059C>T (p.Thr2020Ile)
|
|
|
NM_001042492.3(NF1):c.6062G>A (p.Gly2021Asp)
|
rs1555534605
|
|
NM_001042492.3(NF1):c.6065G>T (p.Gly2022Val)
|
rs1555534606
|
|
NM_001042492.3(NF1):c.6066C>A (p.Gly2022=)
|
|
|
NM_001042492.3(NF1):c.6076A>G (p.Ile2026Val)
|
rs1376868609
|
|
NM_001042492.3(NF1):c.6084T>A (p.Ala2028=)
|
|
|
NM_001042492.3(NF1):c.6088_6092delinsCAC (p.Val2030fs)
|
|
|
NM_001042492.3(NF1):c.6089T>C (p.Val2030Ala)
|
|
|
NM_001042492.3(NF1):c.6090G>A (p.Val2030=)
|
|
|
NM_001042492.3(NF1):c.6091A>T (p.Met2031Leu)
|
|
|
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.60G>A (p.Gln20=)
|
|
|
NM_001042492.3(NF1):c.61-1G>T
|
rs1263745475
|
|
NM_001042492.3(NF1):c.61-2A>G
|
rs1131691100
|
|
NM_001042492.3(NF1):c.61-4T>C
|
|
|
NM_001042492.3(NF1):c.61-4del
|
rs551568608
|
|
NM_001042492.3(NF1):c.6102T>C (p.Thr2034=)
|
rs1597842306
|
|
NM_001042492.3(NF1):c.6105T>C (p.Ala2035=)
|
|
|
NM_001042492.3(NF1):c.6116C>T (p.Ala2039Val)
|
rs1555534614
|
|
NM_001042492.3(NF1):c.6120T>C (p.Ser2040=)
|
rs2069671357
|
|
NM_001042492.3(NF1):c.6121G>A (p.Gly2041Arg)
|
rs1555534616
|
|
NM_001042492.3(NF1):c.6124A>G (p.Asn2042Asp)
|
rs2151553540
|
|
NM_001042492.3(NF1):c.612A>G (p.Leu204=)
|
rs1555608658
|
|
NM_001042492.3(NF1):c.6130A>G (p.Lys2044Glu)
|
|
|
NM_001042492.3(NF1):c.6131A>G (p.Lys2044Arg)
|
|
|
NM_001042492.3(NF1):c.6132A>G (p.Lys2044=)
|
|
|
NM_001042492.3(NF1):c.6132del (p.Lys2044fs)
|
|
|
NM_001042492.3(NF1):c.6133T>C (p.Leu2045=)
|
rs2151553576
|
|
NM_001042492.3(NF1):c.6135G>A (p.Leu2045=)
|
|
|
NM_001042492.3(NF1):c.6135G>T (p.Leu2045Phe)
|
|
|
NM_001042492.3(NF1):c.6136dup (p.Val2046fs)
|
rs1555534618
|
|
NM_001042492.3(NF1):c.6138T>C (p.Val2046=)
|
rs2151553588
|
|
NM_001042492.3(NF1):c.613A>G (p.Lys205Glu)
|
|
|
NM_001042492.3(NF1):c.6146A>C (p.Lys2049Thr)
|
|
|
NM_001042492.3(NF1):c.6146A>T (p.Lys2049Met)
|
|
|
NM_001042492.3(NF1):c.6147+1G>T
|
rs1060500296
|
|
NM_001042492.3(NF1):c.6147+3A>G
|
rs1014307120
|
|
NM_001042492.3(NF1):c.6147+5T>C
|
rs1597842332
|
|
NM_001042492.3(NF1):c.6147+8C>G
|
rs182709912
|
|
NM_001042492.3(NF1):c.6147G>A (p.Lys2049=)
|
|
|
NM_001042492.3(NF1):c.6147G>C (p.Lys2049Asn)
|
rs1135402882
|
|
NM_001042492.3(NF1):c.6148-17dup
|
rs33925668
|
|
NM_001042492.3(NF1):c.6148-18A>G
|
|
|
NM_001042492.3(NF1):c.6148-1G>T
|
|
|
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.6149_6150delinsGGC (p.Val2050fs)
|
rs1597842710
|
|
NM_001042492.3(NF1):c.614A>G (p.Lys205Arg)
|
rs1555608659
|
|
NM_001042492.3(NF1):c.6158G>A (p.Arg2053Lys)
|
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>T (p.Met2054Leu)
|
rs1037341012
|
|
NM_001042492.3(NF1):c.6162G>A (p.Met2054Ile)
|
rs876660651
|
|
NM_001042492.3(NF1):c.6166A>C (p.Lys2056Gln)
|
rs1555534667
|
|
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.6183A>G (p.Thr2061=)
|
rs1225702258
|
|
NM_001042492.3(NF1):c.6185G>C (p.Cys2062Ser)
|
rs1555534668
|
|
NM_001042492.3(NF1):c.6189A>C (p.Leu2063Phe)
|
|
|
NM_001042492.3(NF1):c.618G>A (p.Lys206=)
|
rs1567825917
|
|
NM_001042492.3(NF1):c.618G>C (p.Lys206Asn)
|
rs1567825917
|
|
NM_001042492.3(NF1):c.6195A>C (p.Pro2065=)
|
rs1060503920
|
|
NM_001042492.3(NF1):c.6195A>G (p.Pro2065=)
|
|
|
NM_001042492.3(NF1):c.6196A>G (p.Thr2066Ala)
|
rs1567616928
|
|
NM_001042492.3(NF1):c.6198T>C (p.Thr2066=)
|
|
|
NM_001042492.3(NF1):c.61C>A (p.Leu21Ile)
|
|
|
NM_001042492.3(NF1):c.6201T>C (p.Pro2067=)
|
rs1555534671
|
|
NM_001042492.3(NF1):c.6202_6257dup (p.Leu2086_Met2087insLeuTer)
|
|
|
NM_001042492.3(NF1):c.6203C>G (p.Thr2068Ser)
|
rs876659172
|
|
NM_001042492.3(NF1):c.6207A>G (p.Leu2069=)
|
rs1597842793
|
|
NM_001042492.3(NF1):c.6212A>G (p.Gln2071Arg)
|
rs1597842800
|
|
NM_001042492.3(NF1):c.6213A>G (p.Gln2071=)
|
rs1060503910
|
|
NM_001042492.3(NF1):c.6220dup (p.Met2074fs)
|
rs1555534673
|
|
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.6230A>T (p.Asp2077Val)
|
rs1555534684
|
|
NM_001042492.3(NF1):c.6231T>C (p.Asp2077=)
|
rs1398569642
|
|
NM_001042492.3(NF1):c.6238A>G (p.Ile2080Val)
|
rs2069684102
|
|
NM_001042492.3(NF1):c.6243A>G (p.Leu2081=)
|
|
|
NM_001042492.3(NF1):c.6249C>A (p.Arg2083=)
|
|
|
NM_001042492.3(NF1):c.6249C>G (p.Arg2083=)
|
rs1567616975
|
|
NM_001042492.3(NF1):c.6249C>T (p.Arg2083=)
|
|
|
NM_001042492.3(NF1):c.624G>A (p.Ala208=)
|
rs370184932
|
|
NM_001042492.3(NF1):c.6253del (p.Met2085fs)
|
|
|
NM_001042492.3(NF1):c.6257T>C (p.Leu2086Pro)
|
|
|
NM_001042492.3(NF1):c.6258G>C (p.Leu2086=)
|
|
|
NM_001042492.3(NF1):c.6263T>C (p.Leu2088Pro)
|
rs137854561
|
|
NM_001042492.3(NF1):c.6264G>C (p.Leu2088=)
|
rs762751192
|
|
NM_001042492.3(NF1):c.6264G>T (p.Leu2088=)
|
|
|
NM_001042492.3(NF1):c.6267C>T (p.Ser2089=)
|
rs1597842870
|
|
NM_001042492.3(NF1):c.6268T>C (p.Phe2090Leu)
|
rs2069685496
|
|
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.6277del (p.Ser2093fs)
|
|
|
NM_001042492.3(NF1):c.6279C>T (p.Ser2093=)
|
rs1055695069
|
|
NM_001042492.3(NF1):c.627G>A (p.Gln209=)
|
rs1060503919
|
|
NM_001042492.3(NF1):c.6280C>T (p.Leu2094Phe)
|
rs2069686019
|
|
NM_001042492.3(NF1):c.6282T>C (p.Leu2094=)
|
|
|
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.62T>A (p.Leu21His)
|
rs1567814403
|
|
NM_001042492.3(NF1):c.6302C>G (p.Pro2101Arg)
|
rs756746198
|
|
NM_001042492.3(NF1):c.6303C>G (p.Pro2101=)
|
|
|
NM_001042492.3(NF1):c.6303C>T (p.Pro2101=)
|
rs1161009317
|
|
NM_001042492.3(NF1):c.6303_6315dup (p.Val2106fs)
|
|
|
NM_001042492.3(NF1):c.6303del (p.Tyr2102fs)
|
rs1597842936
|
|
NM_001042492.3(NF1):c.6305A>T (p.Tyr2102Phe)
|
rs1162388561
|
|
NM_001042492.3(NF1):c.6307C>T (p.Leu2103Phe)
|
rs1555534719
|
|
NM_001042492.3(NF1):c.6307del (p.Leu2103fs)
|
rs1131691125
|
|
NM_001042492.3(NF1):c.630A>G (p.Leu210=)
|
|
|
NM_001042492.3(NF1):c.6310T>C (p.Phe2104Leu)
|
rs876660000
|
|
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.6322A>G (p.Thr2108Ala)
|
|
|
NM_001042492.3(NF1):c.6323C>T (p.Thr2108Ile)
|
rs876658920
|
|
NM_001042492.3(NF1):c.6325_6326delinsA (p.Phe2109fs)
|
|
|
NM_001042492.3(NF1):c.632C>T (p.Ala211Val)
|
rs1555608675
|
|
NM_001042492.3(NF1):c.6334del (p.Ala2112fs)
|
rs1555534735
|
|
NM_001042492.3(NF1):c.6337A>T (p.Thr2113Ser)
|
|
|
NM_001042492.3(NF1):c.6338C>A (p.Thr2113Lys)
|
rs768982249
|
|
NM_001042492.3(NF1):c.6343C>A (p.Pro2115Thr)
|
|
|
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.6345G>T (p.Pro2115=)
|
rs779475182
|
|
NM_001042492.3(NF1):c.6346C>G (p.Leu2116Val)
|
|
|
NM_001042492.3(NF1):c.6348C>G (p.Leu2116=)
|
rs748725395
|
|
NM_001042492.3(NF1):c.6355dup (p.Arg2119fs)
|
|
|
NM_001042492.3(NF1):c.6363C>T (p.Ser2121=)
|
rs1555534749
|
|
NM_001042492.3(NF1):c.6365C>T (p.Thr2122Ile)
|
rs878853907
|
|
NM_001042492.3(NF1):c.6366A>G (p.Thr2122=)
|
rs876657547
|
|
NM_001042492.3(NF1):c.6368A>T (p.His2123Leu)
|
rs112546213
|
|
NM_001042492.3(NF1):c.6369T>C (p.His2123=)
|
rs1597843123
|
|
NM_001042492.3(NF1):c.6369T>G (p.His2123Gln)
|
|
|
NM_001042492.3(NF1):c.6370G>A (p.Gly2124Arg)
|
|
|
NM_001042492.3(NF1):c.6374_6377delinsAC (p.Leu2125fs)
|
|
|
NM_001042492.3(NF1):c.6379A>T (p.Ile2127Phe)
|
|
|
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.638T>C (p.Ile213Thr)
|
|
|
NM_001042492.3(NF1):c.6396T>G (p.Ser2132=)
|
rs1555534764
|
|
NM_001042492.3(NF1):c.6397_6398del (p.Leu2133fs)
|
rs1567617129
|
|
NM_001042492.3(NF1):c.6399G>A (p.Leu2133=)
|
rs1448544243
|
|
NM_001042492.3(NF1):c.639A>G (p.Ile213Met)
|
|
|
NM_001042492.3(NF1):c.6401_6402del (p.Cys2134fs)
|
rs1597843186
|
|
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.6405T>A (p.Thr2135=)
|
|
|
NM_001042492.3(NF1):c.6410C>G (p.Ser2137Ter)
|
rs2069691055
|
|
NM_001042492.3(NF1):c.6411A>G (p.Ser2137=)
|
|
|
NM_001042492.3(NF1):c.6412C>T (p.Gln2138Ter)
|
rs2069691114
|
|
NM_001042492.3(NF1):c.641dup (p.Asn214fs)
|
|
|
NM_001042492.3(NF1):c.6424A>C (p.Ser2142Arg)
|
rs1135402886
|
|
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+1G>A
|
rs2151555200
|
|
NM_001042492.3(NF1):c.6427+2T>C
|
rs1567617158
|
|
NM_001042492.3(NF1):c.6427+3A>G
|
|
|
NM_001042492.3(NF1):c.6427+5G>A
|
rs1060500311
|
|
NM_001042492.3(NF1):c.6428-2A>G
|
rs1060500312
|
|
NM_001042492.3(NF1):c.6428-5T>C
|
rs1597843627
|
|
NM_001042492.3(NF1):c.6430G>C (p.Glu2144Gln)
|
|
|
NM_001042492.3(NF1):c.6432G>C (p.Glu2144Asp)
|
|
|
NM_001042492.3(NF1):c.6435C>G (p.Thr2145=)
|
|
|
NM_001042492.3(NF1):c.6435C>T (p.Thr2145=)
|
rs1597843667
|
|
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.643del (p.Ser215fs)
|
rs1597658192
|
|
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.644G>C (p.Ser215Thr)
|
|
|
NM_001042492.3(NF1):c.6451C>T (p.Leu2151Phe)
|
|
|
NM_001042492.3(NF1):c.6453C>A (p.Leu2151=)
|
rs1597843719
|
|
NM_001042492.3(NF1):c.6454A>G (p.Ser2152Gly)
|
|
|
NM_001042492.3(NF1):c.6461C>T (p.Thr2154Ile)
|
rs876658495
|
|
NM_001042492.3(NF1):c.6462dup (p.Glu2155fs)
|
rs1135402888
|
|
NM_001042492.3(NF1):c.6465G>A (p.Glu2155=)
|
rs1394945517
|
|
NM_001042492.3(NF1):c.646C>T (p.Leu216=)
|
rs1597658201
|
|
NM_001042492.3(NF1):c.6475C>T (p.Pro2159Ser)
|
rs2151556095
|
|
NM_001042492.3(NF1):c.6476C>G (p.Pro2159Arg)
|
|
|
NM_001042492.3(NF1):c.647T>C (p.Leu216Pro)
|
rs199474756
|
|
NM_001042492.3(NF1):c.6482T>A (p.Phe2161Tyr)
|
|
|
NM_001042492.3(NF1):c.6484del (p.Tyr2162fs)
|
rs2151556124
|
|
NM_001042492.3(NF1):c.6485A>T (p.Tyr2162Phe)
|
|
|
NM_001042492.3(NF1):c.6488T>C (p.Leu2163Ser)
|
rs1353492847
|
|
NM_001042492.3(NF1):c.6488del (p.Leu2163fs)
|
rs2151556143
|
|
NM_001042492.3(NF1):c.6495T>C (p.Phe2165=)
|
|
|
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.6499_6502delinsTG (p.Ile2167fs)
|
|
|
NM_001042492.3(NF1):c.6502del (p.Ser2168fs)
|
|
|
NM_001042492.3(NF1):c.6503del (p.Ser2168fs)
|
rs1597843782
|
|
NM_001042492.3(NF1):c.650A>G (p.Glu217Gly)
|
|
|
NM_001042492.3(NF1):c.6510C>T (p.Val2170=)
|
rs2151556214
|
|
NM_001042492.3(NF1):c.6513_6514delinsTGA (p.Lys2171fs)
|
|
|
NM_001042492.3(NF1):c.6520G>A (p.Ala2174Thr)
|
rs2069705000
|
|
NM_001042492.3(NF1):c.6523G>A (p.Val2175Ile)
|
|
|
NM_001042492.3(NF1):c.6523_6524del (p.Val2175fs)
|
|
|
NM_001042492.3(NF1):c.6525C>T (p.Val2175=)
|
rs761686171
|
|
NM_001042492.3(NF1):c.6526A>G (p.Ile2176Val)
|
rs2069705304
|
|
NM_001042492.3(NF1):c.6531C>T (p.Ala2177=)
|
rs2151556280
|
|
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.654+1G>T
|
rs1060500245
|
|
NM_001042492.3(NF1):c.654+2T>A
|
rs2143774762
|
|
NM_001042492.3(NF1):c.6540C>T (p.Ser2180=)
|
rs1555534868
|
|
NM_001042492.3(NF1):c.6540del (p.Ser2181fs)
|
rs1597843853
|
|
NM_001042492.3(NF1):c.6541A>C (p.Ser2181Arg)
|
|
|
NM_001042492.3(NF1):c.6545A>G (p.Tyr2182Cys)
|
rs2069705839
|
|
NM_001042492.3(NF1):c.6546C>G (p.Tyr2182Ter)
|
rs876659768
|
|
NM_001042492.3(NF1):c.6548G>A (p.Arg2183Gln)
|
rs2069706142
|
|
NM_001042492.3(NF1):c.6549G>T (p.Arg2183=)
|
rs1028183407
|
|
NM_001042492.3(NF1):c.654G>A (p.Lys218=)
|
|
|
NM_001042492.3(NF1):c.655-1G>A
|
rs2143777263
|
|
NM_001042492.3(NF1):c.655-2A>G
|
rs1555608734
|
|
NM_001042492.3(NF1):c.655-5T>C
|
rs377264487
|
|
NM_001042492.3(NF1):c.6550G>A (p.Asp2184Asn)
|
rs1597843887
|
|
NM_001042492.3(NF1):c.6550G>C (p.Asp2184His)
|
|
|
NM_001042492.3(NF1):c.6553A>G (p.Arg2185Gly)
|
|
|
NM_001042492.3(NF1):c.6556T>G (p.Ser2186Ala)
|
|
|
NM_001042492.3(NF1):c.6557C>A (p.Ser2186Ter)
|
|
|
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>T (p.Ser2188Phe)
|
rs1555534877
|
|
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.6570C>A (p.Gly2190=)
|
|
|
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.6573C>G (p.Ser2191=)
|
|
|
NM_001042492.3(NF1):c.6574T>C (p.Tyr2192His)
|
rs267606598
|
|
NM_001042492.3(NF1):c.6575A>G (p.Tyr2192Cys)
|
|
|
NM_001042492.3(NF1):c.6576T>C (p.Tyr2192=)
|
rs758917402
|
|
NM_001042492.3(NF1):c.657A>G (p.Ala219=)
|
rs2143777330
|
|
NM_001042492.3(NF1):c.6583G>C (p.Glu2195Gln)
|
rs1597843959
|
|
NM_001042492.3(NF1):c.6585_6586del (p.Glu2195fs)
|
rs1131691084
|
|
NM_001042492.3(NF1):c.6586A>G (p.Thr2196Ala)
|
rs372169109
|
|
NM_001042492.3(NF1):c.6587_6588delinsG (p.Thr2196fs)
|
|
|
NM_001042492.3(NF1):c.6588T>G (p.Thr2196=)
|
|
|
NM_001042492.3(NF1):c.6590_6591del (p.Phe2197fs)
|
rs2069707755
|
|
NM_001042492.3(NF1):c.6591T>C (p.Phe2197=)
|
rs1298866989
|
|
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.6594T>C (p.Ala2198=)
|
rs2151556493
|
|
NM_001042492.3(NF1):c.6597G>C (p.Leu2199Phe)
|
rs2151556504
|
|
NM_001042492.3(NF1):c.6602C>T (p.Ser2201Phe)
|
rs2151556524
|
|
NM_001042492.3(NF1):c.6606G>A (p.Leu2202=)
|
rs2151556537
|
|
NM_001042492.3(NF1):c.6611C>T (p.Thr2204Ile)
|
rs1597843996
|
|
NM_001042492.3(NF1):c.6612A>G (p.Thr2204=)
|
rs1555534883
|
|
NM_001042492.3(NF1):c.6616A>C (p.Thr2206Pro)
|
|
|
NM_001042492.3(NF1):c.6616A>G (p.Thr2206Ala)
|
rs781167415
|
|
NM_001042492.3(NF1):c.6616_6619delinsCA (p.Thr2206fs)
|
|
|
NM_001042492.3(NF1):c.6624T>G (p.Ala2208=)
|
|
|
NM_001042492.3(NF1):c.6625T>C (p.Leu2209=)
|
rs2151556602
|
|
NM_001042492.3(NF1):c.6627G>A (p.Leu2209=)
|
rs2151556608
|
|
NM_001042492.3(NF1):c.662G>A (p.Trp221Ter)
|
rs1131691126
|
|
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.6636C>T (p.Ile2212=)
|
rs1597844091
|
|
NM_001042492.3(NF1):c.6637A>G (p.Met2213Val)
|
rs864622330
|
|
NM_001042492.3(NF1):c.6637A>T (p.Met2213Leu)
|
|
|
NM_001042492.3(NF1):c.663G>A (p.Trp221Ter)
|
rs1555608737
|
|
NM_001042492.3(NF1):c.6642+18A>G
|
rs1555534893
|
|
NM_001042492.3(NF1):c.6642+1G>T
|
rs1060500345
|
|
NM_001042492.3(NF1):c.6642+31T>G
|
|
|
NM_001042492.3(NF1):c.6642+3A>G
|
rs1555534891
|
|
NM_001042492.3(NF1):c.6642+5A>G
|
rs1567617536
|
|
NM_001042492.3(NF1):c.6642G>A (p.Glu2214=)
|
rs876660207
|
|
NM_001042492.3(NF1):c.6643-3dup
|
rs35917458
|
|
NM_001042492.3(NF1):c.6643-4T>C
|
rs1555534908
|
|
NM_001042492.3(NF1):c.6643-5T>G
|
rs1555534907
|
|
NM_001042492.3(NF1):c.6645A>G (p.Ala2215=)
|
|
|
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.6649A>G (p.Met2217Val)
|
rs876658255
|
|
NM_001042492.3(NF1):c.6656A>G (p.Asp2219Gly)
|
|
|
NM_001042492.3(NF1):c.6657T>G (p.Asp2219Glu)
|
rs786203831
|
|
NM_001042492.3(NF1):c.665A>C (p.Asn222Thr)
|
rs587781709
|
|
NM_001042492.3(NF1):c.6660T>C (p.Ile2220=)
|
|
|
NM_001042492.3(NF1):c.6664A>T (p.Thr2222Ser)
|
|
|
NM_001042492.3(NF1):c.6664_6665inv (p.Thr2222Val)
|
|
|
NM_001042492.3(NF1):c.6668del (p.Cys2223fs)
|
|
|
NM_001042492.3(NF1):c.6675G>A (p.Trp2225Ter)
|
rs2069717916
|
|
NM_001042492.3(NF1):c.6679G>A (p.Asp2227Asn)
|
rs993364800
|
|
NM_001042492.3(NF1):c.667T>A (p.Trp223Arg)
|
|
|
NM_001042492.3(NF1):c.6681C>A (p.Asp2227Glu)
|
rs876659371
|
|
NM_001042492.3(NF1):c.6681C>T (p.Asp2227=)
|
rs876659371
|
|
NM_001042492.3(NF1):c.6682C>T (p.Gln2228Ter)
|
rs2069718249
|
|
NM_001042492.3(NF1):c.6683A>G (p.Gln2228Arg)
|
|
|
NM_001042492.3(NF1):c.6685T>C (p.Trp2229Arg)
|
rs1060500342
|
|
NM_001042492.3(NF1):c.6686G>A (p.Trp2229Ter)
|
rs2151557496
|
|
NM_001042492.3(NF1):c.6686_6697delinsCA (p.Trp2229fs)
|
|
|
NM_001042492.3(NF1):c.6687G>A (p.Trp2229Ter)
|
rs1597844653
|
|
NM_001042492.3(NF1):c.6690A>G (p.Thr2230=)
|
rs1597844663
|
|
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>G (p.Glu2231=)
|
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.6697del (p.Ala2233fs)
|
|
|
NM_001042492.3(NF1):c.6698C>T (p.Ala2233Val)
|
|
|
NM_001042492.3(NF1):c.6699T>C (p.Ala2233=)
|
|
|
NM_001042492.3(NF1):c.66A>G (p.Pro22=)
|
|
|
NM_001042492.3(NF1):c.6700C>T (p.Gln2234Ter)
|
rs1567617727
|
|
NM_001042492.3(NF1):c.6701A>G (p.Gln2234Arg)
|
rs1597844689
|
|
NM_001042492.3(NF1):c.6704+1G>A
|
rs1060500376
|
|
NM_001042492.3(NF1):c.6704+1G>C
|
rs1060500376
|
|
NM_001042492.3(NF1):c.6704+1del
|
rs1597844692
|
|
NM_001042492.3(NF1):c.6704+4T>C
|
rs1555534930
|
|
NM_001042492.3(NF1):c.6704G>T (p.Arg2235Ile)
|
rs2069719031
|
|
NM_001042492.3(NF1):c.6705-1G>C
|
rs1060500356
|
|
NM_001042492.3(NF1):c.6705-3C>A
|
rs1131691079
|
|
NM_001042492.3(NF1):c.6705-4del
|
|
|
NM_001042492.3(NF1):c.6705A>G (p.Arg2235=)
|
|
|
NM_001042492.3(NF1):c.6708T>C (p.Phe2236=)
|
rs2151558039
|
|
NM_001042492.3(NF1):c.6709G>A (p.Ala2237Thr)
|
|
|
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.6717A>G (p.Gln2239=)
|
rs2069724967
|
|
NM_001042492.3(NF1):c.6729C>T (p.Ser2243=)
|
rs1337738132
|
|
NM_001042492.3(NF1):c.672A>G (p.Val224=)
|
rs2143777618
|
|
NM_001042492.3(NF1):c.6744T>G (p.Ala2248=)
|
rs878853910
|
|
NM_001042492.3(NF1):c.6746T>G (p.Leu2249Arg)
|
rs2151558158
|
|
NM_001042492.3(NF1):c.6747T>C (p.Leu2249=)
|
|
|
NM_001042492.3(NF1):c.6748G>C (p.Val2250Leu)
|
|
|
NM_001042492.3(NF1):c.6750T>A (p.Val2250=)
|
rs762075320
|
|
NM_001042492.3(NF1):c.6751_6754dup (p.Phe2252fs)
|
|
|
NM_001042492.3(NF1):c.6756T>G (p.Phe2252Leu)
|
rs1597845056
|
|
NM_001042492.3(NF1):c.6756del (p.Phe2252fs)
|
|
|
NM_001042492.3(NF1):c.6763A>C (p.Ile2255Leu)
|
|
|
NM_001042492.3(NF1):c.6767G>T (p.Ser2256Ile)
|
|
|
NM_001042492.3(NF1):c.6771A>G (p.Lys2257=)
|
|
|
NM_001042492.3(NF1):c.6772C>A (p.Arg2258=)
|
rs876658541
|
|
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.6777G>A (p.Val2259=)
|
rs1281405147
|
|
NM_001042492.3(NF1):c.677A>C (p.Asn226Thr)
|
rs770339628
|
|
NM_001042492.3(NF1):c.6781C>T (p.His2261Tyr)
|
rs750869272
|
|
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.6786G>A (p.Gly2262=)
|
rs878853911
|
|
NM_001042492.3(NF1):c.6789G>A (p.Gln2263=)
|
|
|
NM_001042492.3(NF1):c.6789del (p.Gln2263_Ile2264insTer)
|
|
|
NM_001042492.3(NF1):c.6790A>G (p.Ile2264Val)
|
rs761213794
|
|
NM_001042492.3(NF1):c.6793A>G (p.Lys2265Glu)
|
|
|
NM_001042492.3(NF1):c.6795G>A (p.Lys2265=)
|
rs1597845162
|
|
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>C (p.Ile2267=)
|
rs876659381
|
|
NM_001042492.3(NF1):c.6801A>G (p.Ile2267Met)
|
rs876659381
|
|
NM_001042492.3(NF1):c.6805C>T (p.Arg2269Cys)
|
rs1555534961
|
|
NM_001042492.3(NF1):c.6806_6819+5del
|
|
|
NM_001042492.3(NF1):c.6807T>G (p.Arg2269=)
|
|
|
NM_001042492.3(NF1):c.6808A>G (p.Ile2270Val)
|
|
|
NM_001042492.3(NF1):c.6811C>G (p.Leu2271Val)
|
|
|
NM_001042492.3(NF1):c.6816C>T (p.Ser2272=)
|
rs864622360
|
|
NM_001042492.3(NF1):c.6819+1G>A
|
rs1555534964
|
|
NM_001042492.3(NF1):c.6819+1G>C
|
rs1555534964
|
|
NM_001042492.3(NF1):c.6819+1del
|
|
|
NM_001042492.3(NF1):c.6819+3A>C
|
|
|
NM_001042492.3(NF1):c.6819+4C>A
|
rs755135948
|
|
NM_001042492.3(NF1):c.6819+5C>A
|
rs876659499
|
|
NM_001042492.3(NF1):c.6820-1G>C
|
rs1060500266
|
|
NM_001042492.3(NF1):c.6820-2A>C
|
rs2151559073
|
|
NM_001042492.3(NF1):c.6820-2del
|
|
|
NM_001042492.3(NF1):c.6820-3A>G
|
|
|
NM_001042492.3(NF1):c.6820-5A>G
|
rs1555535022
|
|
NM_001042492.3(NF1):c.6820G>T (p.Ala2274Ser)
|
rs1555535023
|
|
NM_001042492.3(NF1):c.6822A>G (p.Ala2274=)
|
|
|
NM_001042492.3(NF1):c.6826G>A (p.Glu2276Lys)
|
rs2069742475
|
|
NM_001042492.3(NF1):c.6845C>G (p.Pro2282Arg)
|
rs2069743547
|
|
NM_001042492.3(NF1):c.6845C>T (p.Pro2282Leu)
|
rs2069743547
|
|
NM_001042492.3(NF1):c.6849C>T (p.Asp2283=)
|
rs1597845951
|
|
NM_001042492.3(NF1):c.684A>G (p.Pro228=)
|
rs1555608746
|
|
NM_001042492.3(NF1):c.6853T>C (p.Tyr2285His)
|
|
|
NM_001042492.3(NF1):c.6854_6855insTGA (p.Tyr2285_Asn2286insAsp)
|
|
|
NM_001042492.3(NF1):c.6858C>G (p.Asn2286Lys)
|
rs2151559216
|
|
NM_001042492.3(NF1):c.6858_6859del (p.Asn2286fs)
|
rs1555535044
|
|
NM_001042492.3(NF1):c.685G>C (p.Asp229His)
|
rs2066138591
|
|
NM_001042492.3(NF1):c.6862C>G (p.Gln2288Glu)
|
|
|
NM_001042492.3(NF1):c.6862C>T (p.Gln2288Ter)
|
|
|
NM_001042492.3(NF1):c.6864A>G (p.Gln2288=)
|
rs1064794756
|
|
NM_001042492.3(NF1):c.6868C>T (p.Leu2290=)
|
|
|
NM_001042492.3(NF1):c.6869T>G (p.Leu2290Arg)
|
|
|
NM_001042492.3(NF1):c.686A>G (p.Asp229Gly)
|
rs1060500285
|
|
NM_001042492.3(NF1):c.6872T>C (p.Ile2291Thr)
|
|
|
NM_001042492.3(NF1):c.6879T>G (p.Ala2293=)
|
|
|
NM_001042492.3(NF1):c.6881C>T (p.Thr2294Ile)
|
rs786201902
|
|
NM_001042492.3(NF1):c.6882A>G (p.Thr2294=)
|
rs766889312
|
|
NM_001042492.3(NF1):c.6885A>G (p.Val2295=)
|
|
|
NM_001042492.3(NF1):c.6887T>C (p.Ile2296Thr)
|
rs1212022548
|
|
NM_001042492.3(NF1):c.688G>C (p.Glu230Gln)
|
|
|
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.6897C>A (p.Thr2299=)
|
|
|
NM_001042492.3(NF1):c.6897C>T (p.Thr2299=)
|
|
|
NM_001042492.3(NF1):c.689A>G (p.Glu230Gly)
|
|
|
NM_001042492.3(NF1):c.68dup (p.Thr25fs)
|
rs2143625205
|
|
NM_001042492.3(NF1):c.6900A>G (p.Lys2300=)
|
|
|
NM_001042492.3(NF1):c.6904C>T (p.Gln2302Ter)
|
rs1057518807
|
|
NM_001042492.3(NF1):c.6905A>G (p.Gln2302Arg)
|
|
|
NM_001042492.3(NF1):c.6906G>T (p.Gln2302His)
|
|
|
NM_001042492.3(NF1):c.6906del (p.Gln2302fs)
|
rs1597846091
|
|
NM_001042492.3(NF1):c.6914_6915insATTAT (p.Asn2306fs)
|
|
|
NM_001042492.3(NF1):c.6915T>C (p.Leu2305=)
|
|
|
NM_001042492.3(NF1):c.6917A>G (p.Asn2306Ser)
|
rs1597846107
|
|
NM_001042492.3(NF1):c.6918T>A (p.Asn2306Lys)
|
rs1597846111
|
|
NM_001042492.3(NF1):c.6921+1G>A
|
rs1060500355
|
|
NM_001042492.3(NF1):c.6921+2del
|
|
|
NM_001042492.3(NF1):c.6922-14_6922-13del
|
rs146785663
|
|
NM_001042492.3(NF1):c.6922-1G>C
|
rs1131691115
|
|
NM_001042492.3(NF1):c.6922-3C>T
|
rs876659438
|
|
NM_001042492.3(NF1):c.6922-4C>T
|
rs2069789284
|
|
NM_001042492.3(NF1):c.6922G>A (p.Asp2308Asn)
|
rs775660003
|
|
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>T (p.Pro2310Ser)
|
rs2069789708
|
|
NM_001042492.3(NF1):c.6931C>G (p.Leu2311Val)
|
rs1044698498
|
|
NM_001042492.3(NF1):c.6936_6954del (p.His2312fs)
|
|
|
NM_001042492.3(NF1):c.693_694delinsCT (p.Thr232Ser)
|
rs1555608748
|
|
NM_001042492.3(NF1):c.6946T>C (p.Phe2316Leu)
|
|
|
NM_001042492.3(NF1):c.6948T>C (p.Phe2316=)
|
|
|
NM_001042492.3(NF1):c.6948T>G (p.Phe2316Leu)
|
rs1597847958
|
|
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.6952G>T (p.Val2318Leu)
|
rs760528229
|
|
NM_001042492.3(NF1):c.6955G>A (p.Ala2319Thr)
|
rs786203881
|
|
NM_001042492.3(NF1):c.6955G>T (p.Ala2319Ser)
|
rs786203881
|
|
NM_001042492.3(NF1):c.695C>A (p.Thr232Lys)
|
|
|
NM_001042492.3(NF1):c.695C>T (p.Thr232Ile)
|
rs769719064
|
|
NM_001042492.3(NF1):c.6963dup (p.Val2322fs)
|
|
|
NM_001042492.3(NF1):c.6966G>A (p.Val2322=)
|
rs753793900
|
|
NM_001042492.3(NF1):c.6968T>C (p.Leu2323Pro)
|
rs1131691267
|
|
NM_001042492.3(NF1):c.6969G>A (p.Leu2323=)
|
rs2151561643
|
|
NM_001042492.3(NF1):c.696A>C (p.Thr232=)
|
|
|
NM_001042492.3(NF1):c.6972del (p.Gln2324fs)
|
|
|
NM_001042492.3(NF1):c.6973C>A (p.Leu2325Ile)
|
rs1597848038
|
|
NM_001042492.3(NF1):c.6976G>C (p.Asp2326His)
|
|
|
NM_001042492.3(NF1):c.6978T>C (p.Asp2326=)
|
rs1135402896
|
|
NM_001042492.3(NF1):c.697A>C (p.Lys233Gln)
|
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.6993_7008del (p.Ser2332fs)
|
rs1555535177
|
|
NM_001042492.3(NF1):c.6994T>G (p.Ser2332Ala)
|
|
|
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.699del (p.Lys233fs)
|
|
|
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.7001G>T (p.Gly2334Val)
|
|
|
NM_001042492.3(NF1):c.7002T>A (p.Gly2334=)
|
|
|
NM_001042492.3(NF1):c.7002T>C (p.Gly2334=)
|
|
|
NM_001042492.3(NF1):c.7004C>T (p.Thr2335Ile)
|
|
|
NM_001042492.3(NF1):c.7005C>G (p.Thr2335=)
|
rs2040793
|
|
NM_001042492.3(NF1):c.7006G>T (p.Ala2336Ser)
|
rs587781428
|
|
NM_001042492.3(NF1):c.7008A>G (p.Ala2336=)
|
rs201153017
|
|
NM_001042492.3(NF1):c.7009C>G (p.Leu2337Val)
|
|
|
NM_001042492.3(NF1):c.7018C>T (p.Gln2340Ter)
|
rs2069793099
|
|
NM_001042492.3(NF1):c.7021A>G (p.Asn2341Asp)
|
|
|
NM_001042492.3(NF1):c.7027C>T (p.His2343Tyr)
|
rs781578248
|
|
NM_001042492.3(NF1):c.7029T>C (p.His2343=)
|
rs1555535187
|
|
NM_001042492.3(NF1):c.702_703inv (p.Tyr235His)
|
|
|
NM_001042492.3(NF1):c.702_711delinsATA (p.Gln236fs)
|
|
|
NM_001042492.3(NF1):c.7030A>G (p.Thr2344Ala)
|
rs1555535189
|
|
NM_001042492.3(NF1):c.7031C>T (p.Thr2344Ile)
|
rs2069793613
|
|
NM_001042492.3(NF1):c.7033T>G (p.Leu2345Val)
|
|
|
NM_001042492.3(NF1):c.7036G>T (p.Asp2346Tyr)
|
|
|
NM_001042492.3(NF1):c.7037A>G (p.Asp2346Gly)
|
rs2151561935
|
|
NM_001042492.3(NF1):c.7037_7040del (p.Asp2346fs)
|
rs1597848201
|
|
NM_001042492.3(NF1):c.7038T>C (p.Asp2346=)
|
rs1597848208
|
|
NM_001042492.3(NF1):c.7038T>G (p.Asp2346Glu)
|
|
|
NM_001042492.3(NF1):c.7038del (p.Asp2346fs)
|
|
|
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.7046G>T (p.Arg2349Leu)
|
rs864622065
|
|
NM_001042492.3(NF1):c.7047T>C (p.Arg2349=)
|
rs775364451
|
|
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.7052T>A (p.Phe2351Tyr)
|
|
|
NM_001042492.3(NF1):c.7052T>C (p.Phe2351Ser)
|
|
|
NM_001042492.3(NF1):c.7053C>T (p.Phe2351=)
|
rs2069794864
|
|
NM_001042492.3(NF1):c.7057_7059del (p.Asp2353del)
|
rs786203558
|
|
NM_001042492.3(NF1):c.7059C>T (p.Asp2353=)
|
rs1555535200
|
|
NM_001042492.3(NF1):c.705C>T (p.Tyr235=)
|
rs769048538
|
|
NM_001042492.3(NF1):c.7061A>G (p.Lys2354Arg)
|
|
|
NM_001042492.3(NF1):c.7062+1G>A
|
rs863224492
|
|
NM_001042492.3(NF1):c.7062+1_7062+5del
|
rs1567619134
|
|
NM_001042492.3(NF1):c.7062G>A (p.Lys2354=)
|
rs184142864
|
|
NM_001042492.3(NF1):c.7063-1G>T
|
rs1131691114
|
|
NM_001042492.3(NF1):c.7063-2A>G
|
rs1597851255
|
|
NM_001042492.3(NF1):c.7063-3T>C
|
rs1241158120
|
|
NM_001042492.3(NF1):c.7063-4_7063-2del
|
rs1597851237
|
|
NM_001042492.3(NF1):c.7065T>A (p.Ser2355Arg)
|
|
|
NM_001042492.3(NF1):c.7068A>G (p.Pro2356=)
|
|
|
NM_001042492.3(NF1):c.706C>G (p.Gln236Glu)
|
rs1597658664
|
|
NM_001042492.3(NF1):c.706C>T (p.Gln236Ter)
|
|
|
NM_001042492.3(NF1):c.706dup (p.Gln236fs)
|
rs1597658661
|
|
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.7077A>T (p.Val2359=)
|
rs1483485648
|
|
NM_001042492.3(NF1):c.7078T>G (p.Phe2360Val)
|
rs2069866148
|
|
NM_001042492.3(NF1):c.7081del (p.Met2361fs)
|
|
|
NM_001042492.3(NF1):c.7083G>A (p.Met2361Ile)
|
rs1293010884
|
|
NM_001042492.3(NF1):c.7089C>T (p.Ile2363=)
|
|
|
NM_001042492.3(NF1):c.708G>T (p.Gln236His)
|
|
|
NM_001042492.3(NF1):c.7090C>T (p.Arg2364Trp)
|
rs1567620403
|
|
NM_001042492.3(NF1):c.7095T>C (p.Asn2365=)
|
rs981246691
|
|
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.7099C>T (p.Leu2367=)
|
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.7107G>A (p.Trp2369Ter)
|
rs1060500286
|
|
NM_001042492.3(NF1):c.7108C>T (p.His2370Tyr)
|
rs587781479
|
|
NM_001042492.3(NF1):c.7109A>T (p.His2370Leu)
|
|
|
NM_001042492.3(NF1):c.7110C>G (p.His2370Gln)
|
|
|
NM_001042492.3(NF1):c.7114A>T (p.Lys2372Ter)
|
rs776506332
|
|
NM_001042492.3(NF1):c.711C>A (p.Ile237=)
|
rs2066139444
|
|
NM_001042492.3(NF1):c.7125T>C (p.Asp2375=)
|
rs1597851343
|
|
NM_001042492.3(NF1):c.7134T>G (p.Val2378=)
|
rs1597851356
|
|
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.7140C>G (p.Leu2380=)
|
rs1318891665
|
|
NM_001042492.3(NF1):c.7146C>G (p.Phe2382Leu)
|
rs2151565177
|
|
NM_001042492.3(NF1):c.7146C>T (p.Phe2382=)
|
|
|
NM_001042492.3(NF1):c.714A>C (p.Pro238=)
|
|
|
NM_001042492.3(NF1):c.714A>T (p.Pro238=)
|
|
|
NM_001042492.3(NF1):c.7152dup (p.Asn2385Ter)
|
rs1555535434
|
|
NM_001042492.3(NF1):c.7153A>G (p.Asn2385Asp)
|
rs1597851405
|
|
NM_001042492.3(NF1):c.7153AACTTT[1] (p.2385NF[1])
|
rs864622639
|
|
NM_001042492.3(NF1):c.7159A>T (p.Asn2387Tyr)
|
rs763556723
|
|
NM_001042492.3(NF1):c.7160A>G (p.Asn2387Ser)
|
|
|
NM_001042492.3(NF1):c.7160del (p.Asn2387fs)
|
|
|
NM_001042492.3(NF1):c.7163_7164del (p.Phe2388fs)
|
|
|
NM_001042492.3(NF1):c.7166C>G (p.Ala2389Gly)
|
|
|
NM_001042492.3(NF1):c.7167A>C (p.Ala2389=)
|
rs1555535447
|
|
NM_001042492.3(NF1):c.7167A>G (p.Ala2389=)
|
|
|
NM_001042492.3(NF1):c.7169T>G (p.Leu2390Trp)
|
rs1597851443
|
|
NM_001042492.3(NF1):c.7170G>C (p.Leu2390Phe)
|
rs751081026
|
|
NM_001042492.3(NF1):c.7171del (p.Val2391fs)
|
rs2151565274
|
|
NM_001042492.3(NF1):c.7172T>C (p.Val2391Ala)
|
rs2069869918
|
|
NM_001042492.3(NF1):c.7174G>A (p.Gly2392Arg)
|
|
|
NM_001042492.3(NF1):c.7178A>C (p.His2393Pro)
|
|
|
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.7179C>T (p.His2393=)
|
rs2069870191
|
|
NM_001042492.3(NF1):c.717G>A (p.Gln239=)
|
rs1597658684
|
|
NM_001042492.3(NF1):c.7180C>A (p.Leu2394Ile)
|
rs1555535452
|
|
NM_001042492.3(NF1):c.7183T>C (p.Leu2395=)
|
|
|
NM_001042492.3(NF1):c.7188A>G (p.Lys2396=)
|
rs202067626
|
|
NM_001042492.3(NF1):c.7188del (p.Tyr2398fs)
|
rs777872719
|
|
NM_001042492.3(NF1):c.7188dup (p.Gly2397fs)
|
|
|
NM_001042492.3(NF1):c.7189+4A>C
|
rs756834212
|
|
NM_001042492.3(NF1):c.7189G>A (p.Gly2397Arg)
|
rs1135402900
|
|
NM_001042492.3(NF1):c.7190-1G>A
|
rs2070073417
|
|
NM_001042492.3(NF1):c.7190-33TTGT[5]
|
rs149197458
|
|
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.7190-5dup
|
rs769290414
|
|
NM_001042492.3(NF1):c.7191G>C (p.Gly2397=)
|
rs773474652
|
|
NM_001042492.3(NF1):c.7193A>G (p.Tyr2398Cys)
|
rs1567623401
|
|
NM_001042492.3(NF1):c.7195A>C (p.Arg2399=)
|
rs1555536016
|
|
NM_001042492.3(NF1):c.7195A>G (p.Arg2399Gly)
|
|
|
NM_001042492.3(NF1):c.7197G>A (p.Arg2399=)
|
rs1555536017
|
|
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.7209T>C (p.Pro2403=)
|
rs1597858377
|
|
NM_001042492.3(NF1):c.7209del (p.Ala2404fs)
|
rs2070074227
|
|
NM_001042492.3(NF1):c.720T>A (p.Thr240=)
|
|
|
NM_001042492.3(NF1):c.720T>C (p.Thr240=)
|
rs1555608761
|
|
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.7218T>C (p.Val2406=)
|
|
|
NM_001042492.3(NF1):c.7219G>T (p.Ala2407Ser)
|
|
|
NM_001042492.3(NF1):c.721G>A (p.Asp241Asn)
|
rs2066139718
|
|
NM_001042492.3(NF1):c.721G>T (p.Asp241Tyr)
|
|
|
NM_001042492.3(NF1):c.7221A>G (p.Ala2407=)
|
|
|
NM_001042492.3(NF1):c.7222A>G (p.Arg2408Gly)
|
|
|
NM_001042492.3(NF1):c.7223G>A (p.Arg2408Lys)
|
rs1597858407
|
|
NM_001042492.3(NF1):c.7224A>T (p.Arg2408Ser)
|
|
|
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.7227A>G (p.Thr2409=)
|
|
|
NM_001042492.3(NF1):c.7228G>A (p.Val2410Ile)
|
rs1060500372
|
|
NM_001042492.3(NF1):c.7229_7232del (p.Val2410fs)
|
|
|
NM_001042492.3(NF1):c.722A>G (p.Asp241Gly)
|
|
|
NM_001042492.3(NF1):c.7230C>T (p.Val2410=)
|
rs1555536022
|
|
NM_001042492.3(NF1):c.7232G>C (p.Arg2411Thr)
|
|
|
NM_001042492.3(NF1):c.7234A>G (p.Ile2412Val)
|
|
|
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.7244C>A (p.Thr2415Lys)
|
|
|
NM_001042492.3(NF1):c.7246C>G (p.Leu2416Val)
|
rs786201310
|
|
NM_001042492.3(NF1):c.7249C>T (p.Leu2417=)
|
|
|
NM_001042492.3(NF1):c.7249_7258dup (p.Val2420fs)
|
|
|
NM_001042492.3(NF1):c.7249del (p.Leu2416_Leu2417insTer)
|
rs1597858445
|
|
NM_001042492.3(NF1):c.724A>G (p.Met242Val)
|
rs1555608762
|
|
NM_001042492.3(NF1):c.7254T>G (p.Thr2418=)
|
rs1597858465
|
|
NM_001042492.3(NF1):c.7255_7256del (p.Leu2419fs)
|
rs1597858459
|
|
NM_001042492.3(NF1):c.7256T>C (p.Leu2419Pro)
|
|
|
NM_001042492.3(NF1):c.7256T>G (p.Leu2419Arg)
|
rs2070075780
|
|
NM_001042492.3(NF1):c.725T>C (p.Met242Thr)
|
rs1555608765
|
|
NM_001042492.3(NF1):c.7260T>C (p.Val2420=)
|
|
|
NM_001042492.3(NF1):c.7261A>G (p.Asn2421Asp)
|
|
|
NM_001042492.3(NF1):c.7262A>G (p.Asn2421Ser)
|
rs774339063
|
|
NM_001042492.3(NF1):c.7263C>T (p.Asn2421=)
|
rs1597858494
|
|
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>G (p.His2423Gln)
|
|
|
NM_001042492.3(NF1):c.7269C>T (p.His2423=)
|
|
|
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.7278T>C (p.Cys2426=)
|
rs1567623508
|
|
NM_001042492.3(NF1):c.7279G>C (p.Asp2427His)
|
rs1230353186
|
|
NM_001042492.3(NF1):c.7281C>T (p.Asp2427=)
|
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.7284A>G (p.Lys2428=)
|
rs1555536034
|
|
NM_001042492.3(NF1):c.7287del (p.Phe2429fs)
|
rs1135402902
|
|
NM_001042492.3(NF1):c.7290A>G (p.Glu2430=)
|
rs2070077790
|
|
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.7299A>G (p.Thr2433=)
|
|
|
NM_001042492.3(NF1):c.72A>T (p.Lys24Asn)
|
|
|
NM_001042492.3(NF1):c.730+1G>A
|
rs1060500274
|
|
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.7303_7304del (p.Ser2435fs)
|
rs1597858594
|
|
NM_001042492.3(NF1):c.7307dup (p.Ala2437fs)
|
|
|
NM_001042492.3(NF1):c.731-1G>T
|
rs1555608928
|
|
NM_001042492.3(NF1):c.731-3C>G
|
|
|
NM_001042492.3(NF1):c.7315T>A (p.Leu2439Ile)
|
rs1597858629
|
|
NM_001042492.3(NF1):c.7315T>C (p.Leu2439=)
|
rs1597858629
|
|
NM_001042492.3(NF1):c.7315T>G (p.Leu2439Val)
|
|
|
NM_001042492.3(NF1):c.7317A>C (p.Leu2439Phe)
|
rs1597858633
|
|
NM_001042492.3(NF1):c.731A>G (p.Glu244Gly)
|
|
|
NM_001042492.3(NF1):c.7320A>C (p.Ala2440=)
|
|
|
NM_001042492.3(NF1):c.7321+3A>G
|
rs1597858650
|
|
NM_001042492.3(NF1):c.7321+4A>G
|
rs1597858660
|
|
NM_001042492.3(NF1):c.7322-4T>A
|
|
|
NM_001042492.3(NF1):c.7322del (p.Ala2441fs)
|
rs1131691113
|
|
NM_001042492.3(NF1):c.7324T>A (p.Leu2442Ile)
|
|
|
NM_001042492.3(NF1):c.7325T>A (p.Leu2442Ter)
|
|
|
NM_001042492.3(NF1):c.7326A>T (p.Leu2442Phe)
|
|
|
NM_001042492.3(NF1):c.732dup (p.Cys245fs)
|
|
|
NM_001042492.3(NF1):c.7330_7331insAA (p.Thr2444fs)
|
rs1064794278
|
|
NM_001042492.3(NF1):c.7334T>A (p.Val2445Glu)
|
|
|
NM_001042492.3(NF1):c.7334T>C (p.Val2445Ala)
|
rs1567623931
|
|
NM_001042492.3(NF1):c.7340AAG[1] (p.Glu2448del)
|
rs587781961
|
|
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>T (p.Cys245Phe)
|
rs587781869
|
|
NM_001042492.3(NF1):c.7355G>A (p.Arg2452His)
|
rs1555536122
|
|
NM_001042492.3(NF1):c.7355G>T (p.Arg2452Leu)
|
rs1555536122
|
|
NM_001042492.3(NF1):c.7356C>T (p.Arg2452=)
|
|
|
NM_001042492.3(NF1):c.7361G>A (p.Ser2454Asn)
|
|
|
NM_001042492.3(NF1):c.7366_7457+21del
|
|
|
NM_001042492.3(NF1):c.7368A>C (p.Lys2456Asn)
|
rs201287021
|
|
NM_001042492.3(NF1):c.7368del (p.Lys2456fs)
|
|
|
NM_001042492.3(NF1):c.7369C>T (p.His2457Tyr)
|
rs768404575
|
|
NM_001042492.3(NF1):c.736G>C (p.Ala246Pro)
|
|
|
NM_001042492.3(NF1):c.7371T>C (p.His2457=)
|
|
|
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>G (p.Arg2458=)
|
|
|
NM_001042492.3(NF1):c.7381C>G (p.Leu2461Val)
|
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.7387C>G (p.Leu2463Val)
|
rs2070105859
|
|
NM_001042492.3(NF1):c.7387C>T (p.Leu2463Phe)
|
|
|
NM_001042492.3(NF1):c.7389T>C (p.Leu2463=)
|
rs1032859497
|
|
NM_001042492.3(NF1):c.7389del (p.Thr2464fs)
|
|
|
NM_001042492.3(NF1):c.7391C>T (p.Thr2464Ile)
|
rs1597859696
|
|
NM_001042492.3(NF1):c.7391_7407del (p.Thr2464fs)
|
|
|
NM_001042492.3(NF1):c.7392T>G (p.Thr2464=)
|
|
|
NM_001042492.3(NF1):c.7395T>C (p.Asp2465=)
|
|
|
NM_001042492.3(NF1):c.739G>T (p.Glu247Ter)
|
rs2143784954
|
|
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.7411G>A (p.Val2471Ile)
|
rs876660126
|
|
NM_001042492.3(NF1):c.7415C>G (p.Pro2472Arg)
|
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.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.7428T>C (p.Tyr2476=)
|
rs181397225
|
|
NM_001042492.3(NF1):c.7429C>G (p.Pro2477Ala)
|
rs876658722
|
|
NM_001042492.3(NF1):c.7430C>A (p.Pro2477His)
|
|
|
NM_001042492.3(NF1):c.7437T>C (p.His2479=)
|
rs1355368926
|
|
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.7442del (p.Gly2481fs)
|
rs2151574635
|
|
NM_001042492.3(NF1):c.7443T>C (p.Gly2481=)
|
rs2151574639
|
|
NM_001042492.3(NF1):c.7444G>A (p.Asp2482Asn)
|
|
|
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.744G>T (p.Lys248Asn)
|
|
|
NM_001042492.3(NF1):c.7452C>A (p.Ser2484=)
|
rs764502383
|
|
NM_001042492.3(NF1):c.7454A>C (p.Tyr2485Ser)
|
|
|
NM_001042492.3(NF1):c.7455T>C (p.Tyr2485=)
|
rs1597859871
|
|
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+5G>A
|
rs1555536171
|
|
NM_001042492.3(NF1):c.7457G>T (p.Arg2486Met)
|
|
|
NM_001042492.3(NF1):c.7458-1G>T
|
|
|
NM_001042492.3(NF1):c.7458-3C>G
|
rs1158267419
|
|
NM_001042492.3(NF1):c.7458-5T>G
|
|
|
NM_001042492.3(NF1):c.7458G>T (p.Arg2486Ser)
|
rs2070166426
|
|
NM_001042492.3(NF1):c.745del (p.Leu249fs)
|
|
|
NM_001042492.3(NF1):c.7461A>T (p.Thr2487=)
|
rs149924365
|
|
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.7470G>A (p.Glu2490=)
|
rs1555536339
|
|
NM_001042492.3(NF1):c.7474C>T (p.Gln2492Ter)
|
rs1555536340
|
|
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.7480T>C (p.Trp2494Arg)
|
|
|
NM_001042492.3(NF1):c.7482G>A (p.Trp2494Ter)
|
rs863224493
|
|
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.7491C>T (p.Pro2497=)
|
|
|
NM_001042492.3(NF1):c.7494A>C (p.Lys2498Asn)
|
rs2070167780
|
|
NM_001042492.3(NF1):c.7495G>C (p.Gly2499Arg)
|
|
|
NM_001042492.3(NF1):c.7495_7496delinsCT (p.Gly2499Leu)
|
rs2070167904
|
|
NM_001042492.3(NF1):c.7496del (p.Gly2499fs)
|
rs1555536352
|
|
NM_001042492.3(NF1):c.7497T>G (p.Gly2499=)
|
|
|
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.7506A>G (p.Gly2502=)
|
|
|
NM_001042492.3(NF1):c.7506A>T (p.Gly2502=)
|
rs775258088
|
|
NM_001042492.3(NF1):c.7509C>A (p.Tyr2503Ter)
|
rs1555536359
|
|
NM_001042492.3(NF1):c.7509C>T (p.Tyr2503=)
|
rs1555536359
|
|
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.7512T>A (p.Leu2504=)
|
rs1597862110
|
|
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.7518C>T (p.Ala2506=)
|
rs1597862123
|
|
NM_001042492.3(NF1):c.7525C>A (p.Pro2509Thr)
|
rs886052803
|
|
NM_001042492.3(NF1):c.7526C>T (p.Pro2509Leu)
|
rs786202146
|
|
NM_001042492.3(NF1):c.7527A>G (p.Pro2509=)
|
|
|
NM_001042492.3(NF1):c.7527_7528insTA (p.Thr2510Ter)
|
|
|
NM_001042492.3(NF1):c.7528dup (p.Thr2510fs)
|
|
|
NM_001042492.3(NF1):c.7530T>C (p.Thr2510=)
|
rs1597862150
|
|
NM_001042492.3(NF1):c.7531G>A (p.Val2511Ile)
|
|
|
NM_001042492.3(NF1):c.753C>G (p.Asp251Glu)
|
rs1567826636
|
|
NM_001042492.3(NF1):c.753C>T (p.Asp251=)
|
rs1567826636
|
|
NM_001042492.3(NF1):c.7543A>C (p.Ser2515Arg)
|
|
|
NM_001042492.3(NF1):c.7544G>T (p.Ser2515Ile)
|
rs1597862174
|
|
NM_001042492.3(NF1):c.7550G>A (p.Arg2517Gln)
|
rs755260088
|
|
NM_001042492.3(NF1):c.755del (p.Leu252fs)
|
|
|
NM_001042492.3(NF1):c.7560A>G (p.Lys2520=)
|
rs1597862203
|
|
NM_001042492.3(NF1):c.7561delinsCC (p.Ser2521fs)
|
|
|
NM_001042492.3(NF1):c.7564A>G (p.Met2522Val)
|
rs1597862205
|
|
NM_001042492.3(NF1):c.7568G>A (p.Ser2523Asn)
|
|
|
NM_001042492.3(NF1):c.7568_7615+1494del
|
|
|
NM_001042492.3(NF1):c.756G>A (p.Leu252=)
|
|
|
NM_001042492.3(NF1):c.7576A>G (p.Met2526Val)
|
|
|
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.7583A>G (p.Gln2528Arg)
|
|
|
NM_001042492.3(NF1):c.7587T>G (p.Pro2529=)
|
|
|
NM_001042492.3(NF1):c.7591C>T (p.Gln2531Ter)
|
rs1555536372
|
|
NM_001042492.3(NF1):c.7594G>A (p.Ala2532Thr)
|
rs1555536373
|
|
NM_001042492.3(NF1):c.7596C>G (p.Ala2532=)
|
|
|
NM_001042492.3(NF1):c.7596dup (p.Asn2533fs)
|
|
|
NM_001042492.3(NF1):c.7597A>T (p.Asn2533Tyr)
|
rs2151577390
|
|
NM_001042492.3(NF1):c.7598A>G (p.Asn2533Ser)
|
|
|
NM_001042492.3(NF1):c.7599C>T (p.Asn2533=)
|
rs1597862269
|
|
NM_001042492.3(NF1):c.7603A>G (p.Lys2535Glu)
|
|
|
NM_001042492.3(NF1):c.7606_7615+1del
|
rs1131691120
|
|
NM_001042492.3(NF1):c.7608G>A (p.Lys2536=)
|
rs1597862283
|
|
NM_001042492.3(NF1):c.760G>A (p.Asp254Asn)
|
|
|
NM_001042492.3(NF1):c.7610T>C (p.Leu2537Ser)
|
rs876658670
|
|
NM_001042492.3(NF1):c.7611G>A (p.Leu2537=)
|
rs1597862289
|
|
NM_001042492.3(NF1):c.7614T>C (p.Leu2538=)
|
rs1555536374
|
|
NM_001042492.3(NF1):c.7614del (p.Gly2539fs)
|
rs2070173038
|
|
NM_001042492.3(NF1):c.7615G>T (p.Gly2539Ter)
|
|
|
NM_001042492.3(NF1):c.7616G>A (p.Gly2539Glu)
|
|
|
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.7633G>T (p.Asp2545Tyr)
|
|
|
NM_001042492.3(NF1):c.7634A>G (p.Asp2545Gly)
|
|
|
NM_001042492.3(NF1):c.7635T>A (p.Asp2545Glu)
|
rs876659530
|
|
NM_001042492.3(NF1):c.7637A>C (p.His2546Pro)
|
|
|
NM_001042492.3(NF1):c.7638C>T (p.His2546=)
|
rs2151581056
|
|
NM_001042492.3(NF1):c.7639T>C (p.Leu2547=)
|
rs1597865750
|
|
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.7644A>G (p.Ile2548Met)
|
rs2070273405
|
|
NM_001042492.3(NF1):c.7644dup (p.Ser2549fs)
|
rs2151581069
|
|
NM_001042492.3(NF1):c.7646C>G (p.Ser2549Ter)
|
|
|
NM_001042492.3(NF1):c.7647del (p.Asp2550fs)
|
rs1597865773
|
|
NM_001042492.3(NF1):c.7648G>C (p.Asp2550His)
|
rs2151581078
|
|
NM_001042492.3(NF1):c.7649A>C (p.Asp2550Ala)
|
|
|
NM_001042492.3(NF1):c.764G>A (p.Gly255Asp)
|
|
|
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.7662_7664delinsAG (p.Lys2555fs)
|
rs1567626632
|
|
NM_001042492.3(NF1):c.7663A>G (p.Lys2555Glu)
|
rs786203792
|
|
NM_001042492.3(NF1):c.7663A>T (p.Lys2555Ter)
|
|
|
NM_001042492.3(NF1):c.7667G>T (p.Arg2556Met)
|
rs1597865787
|
|
NM_001042492.3(NF1):c.7670A>C (p.Gln2557Pro)
|
rs2070273995
|
|
NM_001042492.3(NF1):c.7673A>G (p.Glu2558Gly)
|
|
|
NM_001042492.3(NF1):c.7674A>T (p.Glu2558Asp)
|
|
|
NM_001042492.3(NF1):c.7683A>C (p.Ser2561=)
|
rs1555536646
|
|
NM_001042492.3(NF1):c.7683A>G (p.Ser2561=)
|
rs1555536646
|
|
NM_001042492.3(NF1):c.7684G>A (p.Gly2562Arg)
|
rs1555536647
|
|
NM_001042492.3(NF1):c.7685G>A (p.Gly2562Glu)
|
|
|
NM_001042492.3(NF1):c.7685G>T (p.Gly2562Val)
|
rs2070274448
|
|
NM_001042492.3(NF1):c.7686G>A (p.Gly2562=)
|
|
|
NM_001042492.3(NF1):c.7687A>G (p.Ile2563Val)
|
rs1555536648
|
|
NM_001042492.3(NF1):c.7688T>A (p.Ile2563Asn)
|
|
|
NM_001042492.3(NF1):c.7689C>T (p.Ile2563=)
|
|
|
NM_001042492.3(NF1):c.768del (p.Phe256fs)
|
rs1597659830
|
|
NM_001042492.3(NF1):c.7692A>G (p.Thr2564=)
|
|
|
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.7696C>A (p.Pro2566Thr)
|
|
|
NM_001042492.3(NF1):c.7698C>A (p.Pro2566=)
|
|
|
NM_001042492.3(NF1):c.76G>A (p.Gly26Arg)
|
rs778973022
|
|
NM_001042492.3(NF1):c.7700C>G (p.Pro2567Arg)
|
rs754511534
|
|
NM_001042492.3(NF1):c.7701C>T (p.Pro2567=)
|
rs747806648
|
|
NM_001042492.3(NF1):c.7701del (p.Lys2568_Met2569insTer)
|
rs1060500295
|
|
NM_001042492.3(NF1):c.7701dup (p.Lys2568fs)
|
rs1060500295
|
|
NM_001042492.3(NF1):c.770C>T (p.Ala257Val)
|
rs2143785365
|
|
NM_001042492.3(NF1):c.7714G>C (p.Val2572Leu)
|
rs1555536652
|
|
NM_001042492.3(NF1):c.7716A>G (p.Val2572=)
|
|
|
NM_001042492.3(NF1):c.7717G>A (p.Ala2573Thr)
|
rs1555536654
|
|
NM_001042492.3(NF1):c.7718C>G (p.Ala2573Gly)
|
|
|
NM_001042492.3(NF1):c.7719A>G (p.Ala2573=)
|
|
|
NM_001042492.3(NF1):c.7719A>T (p.Ala2573=)
|
rs2151581336
|
|
NM_001042492.3(NF1):c.771T>C (p.Ala257=)
|
rs766932517
|
|
NM_001042492.3(NF1):c.7724C>T (p.Thr2575Ile)
|
rs1597865850
|
|
NM_001042492.3(NF1):c.7725T>C (p.Thr2575=)
|
|
|
NM_001042492.3(NF1):c.7731T>C (p.Tyr2577=)
|
|
|
NM_001042492.3(NF1):c.7739-3C>T
|
rs747382969
|
|
NM_001042492.3(NF1):c.7741A>T (p.Thr2581Ser)
|
rs1597866308
|
|
NM_001042492.3(NF1):c.7744C>G (p.Gln2582Glu)
|
|
|
NM_001042492.3(NF1):c.7748G>T (p.Arg2583Met)
|
|
|
NM_001042492.3(NF1):c.7749del (p.Ile2584fs)
|
rs2151582195
|
|
NM_001042492.3(NF1):c.774A>G (p.Glu258=)
|
rs1555608947
|
|
NM_001042492.3(NF1):c.7750A>T (p.Ile2584Phe)
|
|
|
NM_001042492.3(NF1):c.7751T>G (p.Ile2584Ser)
|
rs1597866331
|
|
NM_001042492.3(NF1):c.7752T>A (p.Ile2584=)
|
|
|
NM_001042492.3(NF1):c.7758A>G (p.Ser2586=)
|
|
|
NM_001042492.3(NF1):c.7758A>T (p.Ser2586=)
|
rs876658564
|
|
NM_001042492.3(NF1):c.7761A>G (p.Ser2587=)
|
rs1597866360
|
|
NM_001042492.3(NF1):c.7762C>T (p.Gln2588Ter)
|
rs1555536687
|
|
NM_001042492.3(NF1):c.7763A>G (p.Gln2588Arg)
|
|
|
NM_001042492.3(NF1):c.7764A>G (p.Gln2588=)
|
rs2151582238
|
|
NM_001042492.3(NF1):c.7765C>T (p.Gln2589Ter)
|
rs1555536689
|
|
NM_001042492.3(NF1):c.7767G>A (p.Gln2589=)
|
rs587782168
|
|
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>T (p.Ser259Ile)
|
|
|
NM_001042492.3(NF1):c.7770C>A (p.His2590Gln)
|
rs1060503906
|
|
NM_001042492.3(NF1):c.7770C>T (p.His2590=)
|
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>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>C (p.His2592=)
|
|
|
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>T (p.Lys2595Ter)
|
|
|
NM_001042492.3(NF1):c.7784_7785del (p.Lys2595fs)
|
rs1597866414
|
|
NM_001042492.3(NF1):c.778A>G (p.Thr260Ala)
|
rs1466892954
|
|
NM_001042492.3(NF1):c.7791A>G (p.Ser2597=)
|
|
|
NM_001042492.3(NF1):c.7791A>T (p.Ser2597=)
|
rs1597866426
|
|
NM_001042492.3(NF1):c.7792G>T (p.Val2598Leu)
|
rs2151582315
|
|
NM_001042492.3(NF1):c.7797T>C (p.Ser2599=)
|
|
|
NM_001042492.3(NF1):c.779C>T (p.Thr260Ile)
|
rs1567826665
|
|
NM_001042492.3(NF1):c.7803A>C (p.Ser2601=)
|
rs1555536700
|
|
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.7805del (p.Asn2602fs)
|
|
|
NM_001042492.3(NF1):c.7806T>A (p.Asn2602Lys)
|
|
|
NM_001042492.3(NF1):c.7806T>C (p.Asn2602=)
|
rs2070288476
|
|
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.780C>T (p.Thr260=)
|
rs1358425599
|
|
NM_001042492.3(NF1):c.7811del (p.Leu2604fs)
|
rs1555536701
|
|
NM_001042492.3(NF1):c.7812C>G (p.Leu2604=)
|
rs1555536702
|
|
NM_001042492.3(NF1):c.7812C>T (p.Leu2604=)
|
rs1555536702
|
|
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>C (p.Asp2606=)
|
|
|
NM_001042492.3(NF1):c.7820A>G (p.Glu2607Gly)
|
rs1597866483
|
|
NM_001042492.3(NF1):c.7822G>A (p.Glu2608Lys)
|
rs1597866487
|
|
NM_001042492.3(NF1):c.7827A>G (p.Val2609=)
|
rs1597866497
|
|
NM_001042492.3(NF1):c.7828C>G (p.Leu2610Val)
|
|
|
NM_001042492.3(NF1):c.7829T>C (p.Leu2610Pro)
|
|
|
NM_001042492.3(NF1):c.782A>G (p.Lys261Arg)
|
|
|
NM_001042492.3(NF1):c.7830T>C (p.Leu2610=)
|
|
|
NM_001042492.3(NF1):c.7830T>G (p.Leu2610=)
|
rs1555536705
|
|
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.7838del (p.Pro2613fs)
|
rs1131691129
|
|
NM_001042492.3(NF1):c.7838dup (p.Lys2614fs)
|
rs1131691129
|
|
NM_001042492.3(NF1):c.7839G>C (p.Pro2613=)
|
rs752218441
|
|
NM_001042492.3(NF1):c.7842G>T (p.Lys2614Asn)
|
rs1555536710
|
|
NM_001042492.3(NF1):c.7843A>G (p.Ile2615Val)
|
|
|
NM_001042492.3(NF1):c.7846C>G (p.Gln2616Glu)
|
rs1555536713
|
|
NM_001042492.3(NF1):c.7846C>T (p.Gln2616Ter)
|
rs1555536713
|
|
NM_001042492.3(NF1):c.784C>T (p.Arg262Cys)
|
rs754343223
|
|
NM_001042492.3(NF1):c.7852C>T (p.Leu2618=)
|
rs1175965670
|
|
NM_001042492.3(NF1):c.7854G>C (p.Leu2618=)
|
rs1597866574
|
|
NM_001042492.3(NF1):c.7855CTT[1] (p.Leu2620del)
|
|
|
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+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.7870-3C>T
|
rs1597866792
|
|
NM_001042492.3(NF1):c.7870-5G>C
|
|
|
NM_001042492.3(NF1):c.7870-5G>T
|
rs1169181885
|
|
NM_001042492.3(NF1):c.7870G>A (p.Ala2624Thr)
|
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.7876C>T (p.Leu2626=)
|
|
|
NM_001042492.3(NF1):c.7878G>A (p.Leu2626=)
|
rs1022364851
|
|
NM_001042492.3(NF1):c.7880dup (p.Tyr2629fs)
|
|
|
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.7893A>G (p.Thr2631=)
|
|
|
NM_001042492.3(NF1):c.7896T>A (p.Asp2632Glu)
|
rs1277560744
|
|
NM_001042492.3(NF1):c.7898A>T (p.Glu2633Val)
|
|
|
NM_001042492.3(NF1):c.7898_7899dup (p.Phe2634fs)
|
|
|
NM_001042492.3(NF1):c.7899G>A (p.Glu2633=)
|
rs1597866857
|
|
NM_001042492.3(NF1):c.789dup (p.Ala264fs)
|
|
|
NM_001042492.3(NF1):c.78A>G (p.Gly26=)
|
|
|
NM_001042492.3(NF1):c.7905T>G (p.Asp2635Glu)
|
|
|
NM_001042492.3(NF1):c.7906C>T (p.Gln2636Ter)
|
rs567988442
|
|
NM_001042492.3(NF1):c.7908del (p.Gln2636fs)
|
rs1597866872
|
|
NM_001042492.3(NF1):c.790G>A (p.Ala264Thr)
|
|
|
NM_001042492.3(NF1):c.7910G>T (p.Arg2637Leu)
|
rs560262404
|
|
NM_001042492.3(NF1):c.7912del (p.Ile2638fs)
|
|
|
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>T (p.Leu2639Phe)
|
rs1057518362
|
|
NM_001042492.3(NF1):c.7918dup (p.Tyr2640fs)
|
|
|
NM_001042492.3(NF1):c.7919A>G (p.Tyr2640Cys)
|
rs1597866901
|
|
NM_001042492.3(NF1):c.7928_7929insGT (p.Leu2643_Ala2644insTer)
|
|
|
NM_001042492.3(NF1):c.7935G>A (p.Glu2645=)
|
|
|
NM_001042492.3(NF1):c.793dup (p.Ala265fs)
|
|
|
NM_001042492.3(NF1):c.7940G>A (p.Ser2647Asn)
|
|
|
NM_001042492.3(NF1):c.7942G>A (p.Val2648Ile)
|
|
|
NM_001042492.3(NF1):c.7943T>C (p.Val2648Ala)
|
|
|
NM_001042492.3(NF1):c.7945G>T (p.Val2649Leu)
|
|
|
NM_001042492.3(NF1):c.7948T>C (p.Phe2650Leu)
|
|
|
NM_001042492.3(NF1):c.7949T>G (p.Phe2650Cys)
|
rs754443238
|
|
NM_001042492.3(NF1):c.794C>T (p.Ala265Val)
|
|
|
NM_001042492.3(NF1):c.7950T>G (p.Phe2650Leu)
|
|
|
NM_001042492.3(NF1):c.7953C>T (p.Pro2651=)
|
rs779167139
|
|
NM_001042492.3(NF1):c.7955A>G (p.Lys2652Arg)
|
rs1597866986
|
|
NM_001042492.3(NF1):c.7959C>A (p.Val2653=)
|
rs1555536767
|
|
NM_001042492.3(NF1):c.7959C>T (p.Val2653=)
|
rs1555536767
|
|
NM_001042492.3(NF1):c.795A>G (p.Ala265=)
|
rs1597659909
|
|
NM_001042492.3(NF1):c.7962T>G (p.Phe2654Leu)
|
rs1597867008
|
|
NM_001042492.3(NF1):c.7962del (p.Pro2655fs)
|
|
|
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.7965T>G (p.Pro2655=)
|
rs748355760
|
|
NM_001042492.3(NF1):c.7966G>A (p.Val2656Ile)
|
|
|
NM_001042492.3(NF1):c.7968T>G (p.Val2656=)
|
rs1555536771
|
|
NM_001042492.3(NF1):c.7968_7970+2delinsACAC
|
rs1597867032
|
|
NM_001042492.3(NF1):c.7969G>A (p.Val2657Met)
|
|
|
NM_001042492.3(NF1):c.7970+2T>C
|
|
|
NM_001042492.3(NF1):c.7970+3A>G
|
rs1567627282
|
|
NM_001042492.3(NF1):c.7970+4_7970+7del
|
rs1064794279
|
|
NM_001042492.3(NF1):c.7970+5G>C
|
rs1567627286
|
|
NM_001042492.3(NF1):c.7971-2A>C
|
|
|
NM_001042492.3(NF1):c.7971-2A>G
|
rs779079091
|
|
NM_001042492.3(NF1):c.7971-4T>C
|
|
|
NM_001042492.3(NF1):c.7971-4T>G
|
rs1555536865
|
|
NM_001042492.3(NF1):c.7979del (p.Leu2660fs)
|
rs2151584799
|
|
NM_001042492.3(NF1):c.797T>A (p.Val266Asp)
|
|
|
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.7989T>C (p.Ser2663=)
|
rs1555536881
|
|
NM_001042492.3(NF1):c.7989T>G (p.Ser2663=)
|
|
|
NM_001042492.3(NF1):c.7989dup (p.Lys2664Ter)
|
rs1555536882
|
|
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.799T>G (p.Trp267Gly)
|
|
|
NM_001042492.3(NF1):c.79C>T (p.Gln27Ter)
|
rs1060500363
|
|
NM_001042492.3(NF1):c.7G>A (p.Ala3Thr)
|
rs1598173770
|
|
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.8001C>T (p.Thr2667=)
|
rs876658475
|
|
NM_001042492.3(NF1):c.8002C>G (p.Leu2668Val)
|
rs1060503905
|
|
NM_001042492.3(NF1):c.8002C>T (p.Leu2668=)
|
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.8009_8011del (p.Ser2670del)
|
|
|
NM_001042492.3(NF1):c.8010del (p.Leu2671fs)
|
|
|
NM_001042492.3(NF1):c.8011T>A (p.Leu2671Met)
|
rs2070326229
|
|
NM_001042492.3(NF1):c.8011T>C (p.Leu2671=)
|
|
|
NM_001042492.3(NF1):c.8016C>T (p.Cys2672=)
|
|
|
NM_001042492.3(NF1):c.801G>A (p.Trp267Ter)
|
rs1064794273
|
|
NM_001042492.3(NF1):c.8023C>A (p.Pro2675Thr)
|
rs1597868132
|
|
NM_001042492.3(NF1):c.8023C>G (p.Pro2675Ala)
|
|
|
NM_001042492.3(NF1):c.8026A>G (p.Asn2676Asp)
|
rs1555536902
|
|
NM_001042492.3(NF1):c.8029T>C (p.Leu2677=)
|
rs1207400434
|
|
NM_001042492.3(NF1):c.8032T>A (p.Leu2678Ile)
|
rs1597868148
|
|
NM_001042492.3(NF1):c.8038C>T (p.Pro2680Ser)
|
|
|
NM_001042492.3(NF1):c.803C>A (p.Pro268Gln)
|
rs1441060549
|
|
NM_001042492.3(NF1):c.803C>T (p.Pro268Leu)
|
rs1441060549
|
|
NM_001042492.3(NF1):c.8042T>A (p.Ile2681Asn)
|
|
|
NM_001042492.3(NF1):c.8044del (p.His2682fs)
|
|
|
NM_001042492.3(NF1):c.8046T>A (p.His2682Gln)
|
rs1184642602
|
|
NM_001042492.3(NF1):c.8049A>G (p.Gly2683=)
|
|
|
NM_001042492.3(NF1):c.804A>G (p.Pro268=)
|
rs759964997
|
|
NM_001042492.3(NF1):c.8055G>A (p.Val2685=)
|
|
|
NM_001042492.3(NF1):c.8056C>T (p.Gln2686Ter)
|
rs2151585015
|
|
NM_001042492.3(NF1):c.8057A>G (p.Gln2686Arg)
|
rs890017184
|
|
NM_001042492.3(NF1):c.8058G>C (p.Gln2686His)
|
|
|
NM_001042492.3(NF1):c.8065G>A (p.Val2689Met)
|
rs761214867
|
|
NM_001042492.3(NF1):c.8067del (p.Tyr2690fs)
|
|
|
NM_001042492.3(NF1):c.8070C>T (p.Tyr2690=)
|
|
|
NM_001042492.3(NF1):c.8075A>T (p.Glu2692Val)
|
|
|
NM_001042492.3(NF1):c.8076A>G (p.Glu2692=)
|
|
|
NM_001042492.3(NF1):c.807A>G (p.Leu269=)
|
rs1333394353
|
|
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.8087C>G (p.Pro2696Arg)
|
rs1597868252
|
|
NM_001042492.3(NF1):c.8087del (p.Pro2696fs)
|
|
|
NM_001042492.3(NF1):c.8088A>C (p.Pro2696=)
|
rs2151585111
|
|
NM_001042492.3(NF1):c.8088A>G (p.Pro2696=)
|
|
|
NM_001042492.3(NF1):c.808C>T (p.Gln270Ter)
|
rs1555608970
|
|
NM_001042492.3(NF1):c.8094C>T (p.Tyr2698=)
|
rs1597868268
|
|
NM_001042492.3(NF1):c.8095C>G (p.Gln2699Glu)
|
rs786203443
|
|
NM_001042492.3(NF1):c.809A>C (p.Gln270Pro)
|
|
|
NM_001042492.3(NF1):c.809A>T (p.Gln270Leu)
|
|
|
NM_001042492.3(NF1):c.8100A>G (p.Thr2700=)
|
rs1597868278
|
|
NM_001042492.3(NF1):c.8103T>G (p.Ser2701=)
|
rs1555536935
|
|
NM_001042492.3(NF1):c.8104T>C (p.Tyr2702His)
|
|
|
NM_001042492.3(NF1):c.8107C>A (p.Leu2703Met)
|
rs955074155
|
|
NM_001042492.3(NF1):c.8109G>A (p.Leu2703=)
|
rs1397862679
|
|
NM_001042492.3(NF1):c.8110C>T (p.Gln2704Ter)
|
|
|
NM_001042492.3(NF1):c.8113+22del
|
rs563852879
|
|
NM_001042492.3(NF1):c.8113+2T>G
|
rs1597868312
|
|
NM_001042492.3(NF1):c.8113+4A>G
|
|
|
NM_001042492.3(NF1):c.8113+93A>T
|
|
|
NM_001042492.3(NF1):c.8113A>G (p.Ser2705Gly)
|
rs1597868305
|
|
NM_001042492.3(NF1):c.8114-1G>C
|
rs1597868727
|
|
NM_001042492.3(NF1):c.8114G>A (p.Ser2705Asn)
|
|
|
NM_001042492.3(NF1):c.8127T>C (p.Asn2709=)
|
rs1555537015
|
|
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.8129del (p.Gly2710fs)
|
|
|
NM_001042492.3(NF1):c.812T>C (p.Ile271Thr)
|
rs1597659948
|
|
NM_001042492.3(NF1):c.8133G>A (p.Leu2711=)
|
|
|
NM_001042492.3(NF1):c.8137C>A (p.Arg2713=)
|
rs757391670
|
|
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.8144C>T (p.Ala2715Val)
|
rs1597868802
|
|
NM_001042492.3(NF1):c.8145A>C (p.Ala2715=)
|
rs1555537028
|
|
NM_001042492.3(NF1):c.8145A>G (p.Ala2715=)
|
rs1555537028
|
|
NM_001042492.3(NF1):c.814A>G (p.Ile272Val)
|
rs1555608971
|
|
NM_001042492.3(NF1):c.8151G>C (p.Pro2717=)
|
rs2285895
|
|
NM_001042492.3(NF1):c.8156C>T (p.Ser2719Leu)
|
|
|
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>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.8161-4A>T
|
|
|
NM_001042492.3(NF1):c.8162A>G (p.Gln2721Arg)
|
rs876657933
|
|
NM_001042492.3(NF1):c.8163A>C (p.Gln2721His)
|
|
|
NM_001042492.3(NF1):c.8175A>G (p.Pro2725=)
|
rs1597870102
|
|
NM_001042492.3(NF1):c.8183C>T (p.Ala2728Val)
|
rs760973918
|
|
NM_001042492.3(NF1):c.8184T>C (p.Ala2728=)
|
|
|
NM_001042492.3(NF1):c.8184T>G (p.Ala2728=)
|
rs1597870116
|
|
NM_001042492.3(NF1):c.8187G>A (p.Glu2729=)
|
|
|
NM_001042492.3(NF1):c.818del (p.Leu273fs)
|
rs2143786053
|
|
NM_001042492.3(NF1):c.819C>T (p.Leu273=)
|
rs765595990
|
|
NM_001042492.3(NF1):c.819_821del (p.Leu274del)
|
rs2143786045
|
|
NM_001042492.3(NF1):c.81G>A (p.Gln27=)
|
rs1597625846
|
|
NM_001042492.3(NF1):c.8202T>C (p.Phe2734=)
|
rs764884159
|
|
NM_001042492.3(NF1):c.8206G>A (p.Asp2736Asn)
|
rs1597870148
|
|
NM_001042492.3(NF1):c.8209G>A (p.Ala2737Thr)
|
rs2151587791
|
|
NM_001042492.3(NF1):c.820C>T (p.Leu274Phe)
|
|
|
NM_001042492.3(NF1):c.8210C>G (p.Ala2737Gly)
|
|
|
NM_001042492.3(NF1):c.8214G>C (p.Leu2738Phe)
|
rs786201597
|
|
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.8223G>A (p.Thr2741=)
|
rs777755159
|
|
NM_001042492.3(NF1):c.8227C>A (p.Leu2743Met)
|
|
|
NM_001042492.3(NF1):c.8227C>G (p.Leu2743Val)
|
rs1597870180
|
|
NM_001042492.3(NF1):c.8229G>A (p.Leu2743=)
|
rs1060503917
|
|
NM_001042492.3(NF1):c.822T>C (p.Leu274=)
|
rs1597659964
|
|
NM_001042492.3(NF1):c.8230C>T (p.Pro2744Ser)
|
|
|
NM_001042492.3(NF1):c.8232T>C (p.Pro2744=)
|
|
|
NM_001042492.3(NF1):c.8239G>A (p.Asp2747Asn)
|
rs745472917
|
|
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.823_827del (p.Ile275fs)
|
rs2143786096
|
|
NM_001042492.3(NF1):c.8241T>A (p.Asp2747Glu)
|
|
|
NM_001042492.3(NF1):c.8243A>C (p.Glu2748Ala)
|
|
|
NM_001042492.3(NF1):c.8249C>T (p.Thr2750Ile)
|
|
|
NM_001042492.3(NF1):c.8250C>G (p.Thr2750=)
|
rs769488796
|
|
NM_001042492.3(NF1):c.8251A>T (p.Ser2751Cys)
|
|
|
NM_001042492.3(NF1):c.8252G>A (p.Ser2751Asn)
|
rs2151587925
|
|
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.8262C>T (p.Ser2754=)
|
|
|
NM_001042492.3(NF1):c.8263C>G (p.Leu2755Val)
|
|
|
NM_001042492.3(NF1):c.8266C>T (p.Leu2756=)
|
rs1182802719
|
|
NM_001042492.3(NF1):c.8267T>A (p.Leu2756Gln)
|
rs1555537241
|
|
NM_001042492.3(NF1):c.8269A>G (p.Thr2757Ala)
|
|
|
NM_001042492.3(NF1):c.8270C>T (p.Thr2757Ile)
|
rs1555537244
|
|
NM_001042492.3(NF1):c.8271T>A (p.Thr2757=)
|
rs2151587996
|
|
NM_001042492.3(NF1):c.8271T>C (p.Thr2757=)
|
rs2151587996
|
|
NM_001042492.3(NF1):c.8274C>T (p.Pro2758=)
|
rs1597870233
|
|
NM_001042492.3(NF1):c.8277A>G (p.Thr2759=)
|
|
|
NM_001042492.3(NF1):c.8285A>C (p.Tyr2762Ser)
|
rs1597870238
|
|
NM_001042492.3(NF1):c.8286C>T (p.Tyr2762=)
|
rs1597870245
|
|
NM_001042492.3(NF1):c.8292T>A (p.Pro2764=)
|
|
|
NM_001042492.3(NF1):c.8292T>C (p.Pro2764=)
|
rs1555537246
|
|
NM_001042492.3(NF1):c.8294C>T (p.Ala2765Val)
|
|
|
NM_001042492.3(NF1):c.8304C>T (p.Ser2768=)
|
rs1555537250
|
|
NM_001042492.3(NF1):c.8307G>T (p.Gln2769His)
|
|
|
NM_001042492.3(NF1):c.8309T>A (p.Leu2770His)
|
|
|
NM_001042492.3(NF1):c.8309T>C (p.Leu2770Pro)
|
|
|
NM_001042492.3(NF1):c.8313T>A (p.Ser2771Arg)
|
|
|
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.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.8325C>T (p.Asn2775=)
|
|
|
NM_001042492.3(NF1):c.8327T>G (p.Leu2776Arg)
|
|
|
NM_001042492.3(NF1):c.8331C>T (p.Asn2777=)
|
|
|
NM_001042492.3(NF1):c.8332C>A (p.Leu2778Ile)
|
|
|
NM_001042492.3(NF1):c.8333T>G (p.Leu2778Arg)
|
rs1555537253
|
|
NM_001042492.3(NF1):c.8337T>C (p.Ser2779=)
|
rs1597870309
|
|
NM_001042492.3(NF1):c.8358A>C (p.Ala2786=)
|
|
|
NM_001042492.3(NF1):c.8358A>G (p.Ala2786=)
|
|
|
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.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.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.8378-3C>T
|
|
|
NM_001042492.3(NF1):c.8379A>G (p.Gly2793=)
|
rs1597882952
|
|
NM_001042492.3(NF1):c.8382C>A (p.Ile2794=)
|
rs1060503890
|
|
NM_001042492.3(NF1):c.8382C>T (p.Ile2794=)
|
rs1060503890
|
|
NM_001042492.3(NF1):c.8389G>A (p.Glu2797Lys)
|
|
|
NM_001042492.3(NF1):c.8389_8391del (p.Glu2797del)
|
rs1555538511
|
|
NM_001042492.3(NF1):c.8391G>A (p.Glu2797=)
|
|
|
NM_001042492.3(NF1):c.8391dup (p.Asn2798fs)
|
rs1555538513
|
|
NM_001042492.3(NF1):c.8393A>G (p.Asn2798Ser)
|
rs1555538515
|
|
NM_001042492.3(NF1):c.8396T>C (p.Val2799Ala)
|
rs2070695501
|
|
NM_001042492.3(NF1):c.8398G>C (p.Glu2800Gln)
|
rs1597882991
|
|
NM_001042492.3(NF1):c.8406C>T (p.Ser2802=)
|
rs1597883029
|
|
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.8412C>T (p.Thr2804=)
|
rs1555538531
|
|
NM_001042492.3(NF1):c.8417G>T (p.Gly2806Val)
|
|
|
NM_001042492.3(NF1):c.8418C>T (p.Gly2806=)
|
rs1555538535
|
|
NM_001042492.3(NF1):c.8420A>G (p.His2807Arg)
|
rs2070695954
|
|
NM_001042492.3(NF1):c.8421C>A (p.His2807Gln)
|
rs1326795798
|
|
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.8424T>C (p.Cys2808=)
|
|
|
NM_001042492.3(NF1):c.8425A>T (p.Asn2809Tyr)
|
|
|
NM_001042492.3(NF1):c.8428A>G (p.Ser2810Gly)
|
rs1597883071
|
|
NM_001042492.3(NF1):c.8430T>C (p.Ser2810=)
|
|
|
NM_001042492.3(NF1):c.8433A>C (p.Gly2811=)
|
|
|
NM_001042492.3(NF1):c.8434C>T (p.Arg2812Ter)
|
|
|
NM_001042492.3(NF1):c.8437A>T (p.Thr2813Ser)
|
rs1597883075
|
|
NM_001042492.3(NF1):c.8439T>A (p.Thr2813=)
|
|
|
NM_001042492.3(NF1):c.843C>G (p.Ile281Met)
|
|
|
NM_001042492.3(NF1):c.8440C>T (p.Arg2814Cys)
|
rs876658139
|
|
NM_001042492.3(NF1):c.8442C>T (p.Arg2814=)
|
|
|
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.8445C>T (p.His2815=)
|
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.8457C>T (p.Ser2819=)
|
|
|
NM_001042492.3(NF1):c.8461G>A (p.Val2821Met)
|
rs1567634549
|
|
NM_001042492.3(NF1):c.8469G>T (p.Lys2823Asn)
|
rs1203883572
|
|
NM_001042492.3(NF1):c.8472A>C (p.Gln2824His)
|
|
|
NM_001042492.3(NF1):c.8477G>C (p.Ser2826Thr)
|
rs1057523477
|
|
NM_001042492.3(NF1):c.8479G>A (p.Ala2827Thr)
|
rs199878086
|
|
NM_001042492.3(NF1):c.8481T>C (p.Ala2827=)
|
rs1555538546
|
|
NM_001042492.3(NF1):c.8482G>A (p.Gly2828Ser)
|
rs2070697456
|
|
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.8497A>C (p.Asn2833His)
|
rs786202863
|
|
NM_001042492.3(NF1):c.8499T>G (p.Asn2833Lys)
|
rs142636150
|
|
NM_001042492.3(NF1):c.8501G>C (p.Ser2834Thr)
|
|
|
NM_001042492.3(NF1):c.8503A>C (p.Ile2835Leu)
|
|
|
NM_001042492.3(NF1):c.8505T>A (p.Ile2835=)
|
rs1192855534
|
|
NM_001042492.3(NF1):c.8507AGA[1] (p.Lys2837del)
|
rs1555538565
|
|
NM_001042492.3(NF1):c.8511G>A (p.Lys2837=)
|
rs752398289
|
|
NM_001042492.3(NF1):c.8512A>T (p.Ile2838Phe)
|
|
|
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.8517G>T (p.Val2839=)
|
|
|
NM_001042492.3(NF1):c.8519G>A (p.Ter2840=)
|
rs2151601679
|
|
NM_001042492.3(NF1):c.852A>G (p.Ile284Met)
|
rs1567826762
|
|
NM_001042492.3(NF1):c.855C>G (p.Ser285=)
|
rs1445215573
|
|
NM_001042492.3(NF1):c.860A>T (p.Asp287Val)
|
|
|
NM_001042492.3(NF1):c.861C>A (p.Asp287Glu)
|
|
|
NM_001042492.3(NF1):c.864G>T (p.Val288=)
|
rs201181517
|
|
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.872A>C (p.Glu291Ala)
|
rs876660171
|
|
NM_001042492.3(NF1):c.875A>G (p.Asn292Ser)
|
|
|
NM_001042492.3(NF1):c.875del (p.Asn292fs)
|
rs1597660090
|
|
NM_001042492.3(NF1):c.879C>T (p.Asn293=)
|
rs1597660105
|
|
NM_001042492.3(NF1):c.87C>T (p.Asn29=)
|
rs1060503914
|
|
NM_001042492.3(NF1):c.880A>G (p.Met294Val)
|
rs1597660112
|
|
NM_001042492.3(NF1):c.882G>A (p.Met294Ile)
|
|
|
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.888+17T>G
|
|
|
NM_001042492.3(NF1):c.888+1G>A
|
rs1135402799
|
|
NM_001042492.3(NF1):c.888+2T>C
|
rs2066160116
|
|
NM_001042492.3(NF1):c.888+744A>G
|
rs1597660915
|
|
NM_001042492.3(NF1):c.888G>A (p.Lys296=)
|
rs1597660134
|
|
NM_001042492.3(NF1):c.889-1del
|
|
|
NM_001042492.3(NF1):c.889-2A>G
|
rs878853922
|
|
NM_001042492.3(NF1):c.889-5T>G
|
|
|
NM_001042492.3(NF1):c.889-5del
|
rs1555610837
|
|
NM_001042492.3(NF1):c.88A>C (p.Thr30Pro)
|
rs1555604881
|
|
NM_001042492.3(NF1):c.88A>G (p.Thr30Ala)
|
|
|
NM_001042492.3(NF1):c.890A>T (p.Lys297Met)
|
|
|
NM_001042492.3(NF1):c.894A>C (p.Leu298Phe)
|
|
|
NM_001042492.3(NF1):c.8C>A (p.Ala3Glu)
|
|
|
NM_001042492.3(NF1):c.8C>T (p.Ala3Val)
|
rs1911550821
|
|
NM_001042492.3(NF1):c.900G>C (p.Leu300=)
|
rs1597680750
|
|
NM_001042492.3(NF1):c.901G>A (p.Asp301Asn)
|
rs2066505718
|
|
NM_001042492.3(NF1):c.903C>G (p.Asp301Glu)
|
|
|
NM_001042492.3(NF1):c.903C>T (p.Asp301=)
|
|
|
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.907_908del (p.Leu303fs)
|
|
|
NM_001042492.3(NF1):c.917C>T (p.Ala306Val)
|
rs1597680783
|
|
NM_001042492.3(NF1):c.919C>T (p.Leu307Phe)
|
|
|
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.925G>A (p.Gly309Ser)
|
|
|
NM_001042492.3(NF1):c.925_926delinsAT (p.Gly309Ile)
|
|
|
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>C (p.His310=)
|
rs1555610865
|
|
NM_001042492.3(NF1):c.932G>A (p.Gly311Glu)
|
|
|
NM_001042492.3(NF1):c.933A>C (p.Gly311=)
|
|
|
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.935del (p.Gly312fs)
|
|
|
NM_001042492.3(NF1):c.936A>G (p.Gly312=)
|
|
|
NM_001042492.3(NF1):c.937_938dup (p.Ser313fs)
|
|
|
NM_001042492.3(NF1):c.93T>A (p.His31Gln)
|
rs2143625630
|
|
NM_001042492.3(NF1):c.93dup (p.Thr32fs)
|
rs1597625887
|
|
NM_001042492.3(NF1):c.940A>G (p.Arg314Gly)
|
|
|
NM_001042492.3(NF1):c.945G>A (p.Gln315=)
|
|
|
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.950_951insTT (p.Thr317_Glu318insTer)
|
|
|
NM_001042492.3(NF1):c.951A>G (p.Thr317=)
|
|
|
NM_001042492.3(NF1):c.952G>T (p.Glu318Ter)
|
|
|
NM_001042492.3(NF1):c.952_953del (p.Glu318fs)
|
rs2066507116
|
|
NM_001042492.3(NF1):c.952del (p.Glu318fs)
|
rs1555610881
|
|
NM_001042492.3(NF1):c.953_956del (p.Glu318fs)
|
|
|
NM_001042492.3(NF1):c.954A>G (p.Glu318=)
|
|
|
NM_001042492.3(NF1):c.955del (p.Ser319fs)
|
rs876660931
|
|
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.971G>T (p.Cys324Phe)
|
|
|
NM_001042492.3(NF1):c.975C>T (p.Val325=)
|
rs747954452
|
|
NM_001042492.3(NF1):c.976A>G (p.Lys326Glu)
|
rs1597680956
|
|
NM_001042492.3(NF1):c.980T>A (p.Leu327Gln)
|
|
|
NM_001042492.3(NF1):c.980T>C (p.Leu327Pro)
|
rs201624827
|
|
NM_001042492.3(NF1):c.981G>A (p.Leu327=)
|
|
|
NM_001042492.3(NF1):c.983_984del (p.Leu327_Cys328insTer)
|
rs1555610893
|
|
NM_001042492.3(NF1):c.986A>G (p.Lys329Arg)
|
rs1555610894
|
|
NM_001042492.3(NF1):c.989C>T (p.Ala330Val)
|
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.998dup (p.Tyr333Ter)
|
rs2066508538
|
|
NM_001042492.3(NF1):c.999C>T (p.Tyr333=)
|
rs1466912192
|
|
NM_001042492.3(NF1):c.999del (p.Thr332_Tyr333insTer)
|
rs2143873634
|
|
NM_001042492.3(NF1):c.99A>G (p.Lys33=)
|
rs786203280
|
|
NM_001042492.3(NF1):c.99del (p.Val34fs)
|
rs1060500320
|
|
NM_001042492.3(NF1):c.9G>A (p.Ala3=)
|
rs2143144452
|
|
NM_001042492.3(NF1):c.9G>T (p.Ala3=)
|
|
|
NM_006767.3(LZTR1):c.404dupG
|
|
|
NM_006767.4(LZTR1):c.-2G>A
|
|
|
NM_006767.4(LZTR1):c.-3G>A
|
|
|
NM_006767.4(LZTR1):c.-5C>T
|
|
|
NM_006767.4(LZTR1):c.1002G>T (p.Gly334=)
|
|
|
NM_006767.4(LZTR1):c.1005T>G (p.Ala335=)
|
|
|
NM_006767.4(LZTR1):c.1010T>G (p.Val337Gly)
|
|
|
NM_006767.4(LZTR1):c.1013C>A (p.Pro338His)
|
|
|
NM_006767.4(LZTR1):c.1015G>A (p.Glu339Lys)
|
|
|
NM_006767.4(LZTR1):c.1016A>T (p.Glu339Val)
|
|
|
NM_006767.4(LZTR1):c.1017G>A (p.Glu339=)
|
|
|
NM_006767.4(LZTR1):c.1017_1018delinsAA (p.Glu339_Arg340=)
|
|
|
NM_006767.4(LZTR1):c.1018C>A (p.Arg340=)
|
|
|
NM_006767.4(LZTR1):c.1019_1022del (p.Arg340fs)
|
rs2147965393
|
|
NM_006767.4(LZTR1):c.1021G>A (p.Ala341Thr)
|
|
|
NM_006767.4(LZTR1):c.1025G>A (p.Cys342Tyr)
|
|
|
NM_006767.4(LZTR1):c.1026T>A (p.Cys342Ter)
|
|
|
NM_006767.4(LZTR1):c.1027G>A (p.Ala343Thr)
|
|
|
NM_006767.4(LZTR1):c.1028C>A (p.Ala343Asp)
|
|
|
NM_006767.4(LZTR1):c.1029T>G (p.Ala343=)
|
|
|
NM_006767.4(LZTR1):c.102C>T (p.Cys34=)
|
|
|
NM_006767.4(LZTR1):c.1031C>A (p.Ser344Tyr)
|
|
|
NM_006767.4(LZTR1):c.1031C>T (p.Ser344Phe)
|
|
|
NM_006767.4(LZTR1):c.1032C>T (p.Ser344=)
|
rs375479373
|
|
NM_006767.4(LZTR1):c.1032del (p.Glu345fs)
|
|
|
NM_006767.4(LZTR1):c.1033G>A (p.Glu345Lys)
|
|
|
NM_006767.4(LZTR1):c.1035G>A (p.Glu345=)
|
|
|
NM_006767.4(LZTR1):c.1037A>G (p.Glu346Gly)
|
|
|
NM_006767.4(LZTR1):c.1037del (p.Glu346fs)
|
|
|
NM_006767.4(LZTR1):c.1038G>A (p.Glu346=)
|
|
|
NM_006767.4(LZTR1):c.1039G>T (p.Val347Leu)
|
|
|
NM_006767.4(LZTR1):c.1041G>T (p.Val347=)
|
|
|
NM_006767.4(LZTR1):c.1042C>T (p.Pro348Ser)
|
|
|
NM_006767.4(LZTR1):c.1046C>T (p.Thr349Ile)
|
|
|
NM_006767.4(LZTR1):c.1047C>A (p.Thr349=)
|
|
|
NM_006767.4(LZTR1):c.1047C>G (p.Thr349=)
|
|
|
NM_006767.4(LZTR1):c.1048C>A (p.Leu350Met)
|
|
|
NM_006767.4(LZTR1):c.1048C>G (p.Leu350Val)
|
|
|
NM_006767.4(LZTR1):c.1048del (p.Thr349_Leu350insTer)
|
|
|
NM_006767.4(LZTR1):c.1049T>A (p.Leu350Gln)
|
|
|
NM_006767.4(LZTR1):c.104C>T (p.Ser35Leu)
|
|
|
NM_006767.4(LZTR1):c.1050G>A (p.Leu350=)
|
|
|
NM_006767.4(LZTR1):c.1050G>C (p.Leu350=)
|
|
|
NM_006767.4(LZTR1):c.1051A>C (p.Thr351Pro)
|
|
|
NM_006767.4(LZTR1):c.1051A>G (p.Thr351Ala)
|
|
|
NM_006767.4(LZTR1):c.1052C>T (p.Thr351Ile)
|
|
|
NM_006767.4(LZTR1):c.1055A>G (p.Tyr352Cys)
|
|
|
NM_006767.4(LZTR1):c.1059G>A (p.Glu353=)
|
|
|
NM_006767.4(LZTR1):c.1062G>C (p.Glu354Asp)
|
|
|
NM_006767.4(LZTR1):c.1063C>A (p.Arg355=)
|
|
|
NM_006767.4(LZTR1):c.1063C>G (p.Arg355Gly)
|
|
|
NM_006767.4(LZTR1):c.1063C>T (p.Arg355Trp)
|
|
|
NM_006767.4(LZTR1):c.1064G>C (p.Arg355Pro)
|
|
|
NM_006767.4(LZTR1):c.1066G>T (p.Val356Phe)
|
|
|
NM_006767.4(LZTR1):c.1071C>T (p.Gly357=)
|
|
|
NM_006767.4(LZTR1):c.1074C>T (p.Phe358=)
|
|
|
NM_006767.4(LZTR1):c.1076A>G (p.Lys359Arg)
|
|
|
NM_006767.4(LZTR1):c.1080G>A (p.Lys360=)
|
|
|
NM_006767.4(LZTR1):c.1083C>A (p.Ser361=)
|
|
|
NM_006767.4(LZTR1):c.1083C>T (p.Ser361=)
|
|
|
NM_006767.4(LZTR1):c.1083_1084delinsAA (p.Ser361_Arg362=)
|
rs2147965505
|
|
NM_006767.4(LZTR1):c.1084C>A (p.Arg362=)
|
|
|
NM_006767.4(LZTR1):c.1088A>T (p.Asp363Val)
|
|
|
NM_006767.4(LZTR1):c.108C>T (p.Asp36=)
|
|
|
NM_006767.4(LZTR1):c.1090G>A (p.Val364Met)
|
|
|
NM_006767.4(LZTR1):c.1092G>A (p.Val364=)
|
|
|
NM_006767.4(LZTR1):c.1092G>T (p.Val364=)
|
|
|
NM_006767.4(LZTR1):c.1097G>T (p.Gly366Val)
|
|
|
NM_006767.4(LZTR1):c.1098C>T (p.Gly366=)
|
|
|
NM_006767.4(LZTR1):c.1099C>G (p.Leu367Val)
|
|
|
NM_006767.4(LZTR1):c.1101G>A (p.Leu367=)
|
|
|
NM_006767.4(LZTR1):c.1109_1110delinsTT (p.Gly370Val)
|
|
|
NM_006767.4(LZTR1):c.1112C>T (p.Thr371Ile)
|
|
|
NM_006767.4(LZTR1):c.1115C>T (p.Thr372Ile)
|
|
|
NM_006767.4(LZTR1):c.1126C>G (p.Gln376Glu)
|
|
|
NM_006767.4(LZTR1):c.1126C>T (p.Gln376Ter)
|
rs772293748
|
|
NM_006767.4(LZTR1):c.1128G>A (p.Gln376=)
|
|
|
NM_006767.4(LZTR1):c.1129C>A (p.Pro377Thr)
|
rs1223628431
|
|
NM_006767.4(LZTR1):c.112G>A (p.Val38Ile)
|
|
|
NM_006767.4(LZTR1):c.1133C>T (p.Thr378Ile)
|
|
|
NM_006767.4(LZTR1):c.1134C>G (p.Thr378=)
|
|
|
NM_006767.4(LZTR1):c.1135C>T (p.Gln379Ter)
|
|
|
NM_006767.4(LZTR1):c.1136A>C (p.Gln379Pro)
|
|
|
NM_006767.4(LZTR1):c.1140T>A (p.Pro380=)
|
|
|
NM_006767.4(LZTR1):c.1141G>C (p.Ala381Pro)
|
rs1224523480
|
|
NM_006767.4(LZTR1):c.1143C>T (p.Ala381=)
|
|
|
NM_006767.4(LZTR1):c.1143_1149+8del
|
|
|
NM_006767.4(LZTR1):c.1145C>T (p.Ser382Leu)
|
rs762889850
|
|
NM_006767.4(LZTR1):c.1149+1G>A
|
rs767191322
|
|
NM_006767.4(LZTR1):c.1149+1G>C
|
|
|
NM_006767.4(LZTR1):c.1149+1G>T
|
|
|
NM_006767.4(LZTR1):c.1149+1dup
|
|
|
NM_006767.4(LZTR1):c.1149+3A>T
|
rs542715642
|
|
NM_006767.4(LZTR1):c.1149+4C>G
|
|
|
NM_006767.4(LZTR1):c.1149+4C>T
|
|
|
NM_006767.4(LZTR1):c.1149+5A>C
|
|
|
NM_006767.4(LZTR1):c.1149G>C (p.Glu383Asp)
|
|
|
NM_006767.4(LZTR1):c.114C>T (p.Val38=)
|
|
|
NM_006767.4(LZTR1):c.1150-1G>T
|
|
|
NM_006767.4(LZTR1):c.1150-5C>T
|
rs992627026
|
|
NM_006767.4(LZTR1):c.1153C>A (p.Pro385Thr)
|
|
|
NM_006767.4(LZTR1):c.1155C>G (p.Pro385=)
|
|
|
NM_006767.4(LZTR1):c.1155C>T (p.Pro385=)
|
|
|
NM_006767.4(LZTR1):c.1161G>A (p.Gly387=)
|
|
|
NM_006767.4(LZTR1):c.1164G>T (p.Arg388Ser)
|
|
|
NM_006767.4(LZTR1):c.1164del (p.Arg388fs)
|
|
|
NM_006767.4(LZTR1):c.1165C>T (p.Leu389Phe)
|
|
|
NM_006767.4(LZTR1):c.1166T>C (p.Leu389Pro)
|
|
|
NM_006767.4(LZTR1):c.1167C>T (p.Leu389=)
|
|
|
NM_006767.4(LZTR1):c.1170C>T (p.Phe390=)
|
|
|
NM_006767.4(LZTR1):c.1171del (p.His391fs)
|
|
|
NM_006767.4(LZTR1):c.1173C>A (p.His391Gln)
|
|
|
NM_006767.4(LZTR1):c.1174G>A (p.Ala392Thr)
|
|
|
NM_006767.4(LZTR1):c.1179T>G (p.Ala393=)
|
|
|
NM_006767.4(LZTR1):c.1180G>C (p.Ala394Pro)
|
|
|
NM_006767.4(LZTR1):c.1180G>T (p.Ala394Ser)
|
|
|
NM_006767.4(LZTR1):c.1185C>A (p.Val395=)
|
rs979761897
|
|
NM_006767.4(LZTR1):c.1190C>T (p.Ser397Leu)
|
rs1241079044
|
|
NM_006767.4(LZTR1):c.1191G>A (p.Ser397=)
|
|
|
NM_006767.4(LZTR1):c.1194C>A (p.Asp398Glu)
|
|
|
NM_006767.4(LZTR1):c.1197C>G (p.Ala399=)
|
|
|
NM_006767.4(LZTR1):c.1198A>C (p.Met400Leu)
|
|
|
NM_006767.4(LZTR1):c.1199T>C (p.Met400Thr)
|
|
|
NM_006767.4(LZTR1):c.11C>A (p.Pro4Gln)
|
|
|
NM_006767.4(LZTR1):c.11C>T (p.Pro4Leu)
|
|
|
NM_006767.4(LZTR1):c.1200G>A (p.Met400Ile)
|
|
|
NM_006767.4(LZTR1):c.1200G>C (p.Met400Ile)
|
|
|
NM_006767.4(LZTR1):c.1201T>G (p.Tyr401Asp)
|
|
|
NM_006767.4(LZTR1):c.1202A>C (p.Tyr401Ser)
|
|
|
NM_006767.4(LZTR1):c.1205T>C (p.Ile402Thr)
|
|
|
NM_006767.4(LZTR1):c.120C>G (p.Tyr40Ter)
|
|
|
NM_006767.4(LZTR1):c.1210G>C (p.Gly404Arg)
|
|
|
NM_006767.4(LZTR1):c.1212G>A (p.Gly404=)
|
|
|
NM_006767.4(LZTR1):c.1214G>A (p.Gly405Asp)
|
|
|
NM_006767.4(LZTR1):c.1214del (p.Gly405fs)
|
|
|
NM_006767.4(LZTR1):c.1216A>C (p.Thr406Pro)
|
|
|
NM_006767.4(LZTR1):c.1217C>A (p.Thr406Lys)
|
|
|
NM_006767.4(LZTR1):c.1217C>T (p.Thr406Met)
|
|
|
NM_006767.4(LZTR1):c.1218G>A (p.Thr406=)
|
|
|
NM_006767.4(LZTR1):c.1218G>T (p.Thr406=)
|
|
|
NM_006767.4(LZTR1):c.1219G>A (p.Val407Met)
|
|
|
NM_006767.4(LZTR1):c.1219del (p.Val407fs)
|
|
|
NM_006767.4(LZTR1):c.1220T>C (p.Val407Ala)
|
|
|
NM_006767.4(LZTR1):c.1224C>T (p.Asp408=)
|
rs1323577236
|
|
NM_006767.4(LZTR1):c.1226del (p.Asn409fs)
|
|
|
NM_006767.4(LZTR1):c.1227C>A (p.Asn409Lys)
|
|
|
NM_006767.4(LZTR1):c.1227C>T (p.Asn409=)
|
|
|
NM_006767.4(LZTR1):c.1229A>G (p.Asn410Ser)
|
|
|
NM_006767.4(LZTR1):c.1231A>C (p.Ile411Leu)
|
|
|
NM_006767.4(LZTR1):c.1232T>A (p.Ile411Asn)
|
|
|
NM_006767.4(LZTR1):c.1233C>T (p.Ile411=)
|
|
|
NM_006767.4(LZTR1):c.1234C>T (p.Arg412Cys)
|
rs747430075
|
|
NM_006767.4(LZTR1):c.1235G>A (p.Arg412His)
|
rs935736801
|
|
NM_006767.4(LZTR1):c.1236C>T (p.Arg412=)
|
|
|
NM_006767.4(LZTR1):c.1237A>G (p.Ser413Gly)
|
|
|
NM_006767.4(LZTR1):c.1239C>A (p.Ser413Arg)
|
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|
NM_006767.4(LZTR1):c.1239C>T (p.Ser413=)
|
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|
NM_006767.4(LZTR1):c.123G>C (p.Leu41=)
|
|
|
NM_006767.4(LZTR1):c.1243G>A (p.Glu415Lys)
|
|
|
NM_006767.4(LZTR1):c.1243G>T (p.Glu415Ter)
|
|
|
NM_006767.4(LZTR1):c.1246del (p.Met416fs)
|
|
|
NM_006767.4(LZTR1):c.1247T>C (p.Met416Thr)
|
|
|
NM_006767.4(LZTR1):c.1247T>G (p.Met416Arg)
|
|
|
NM_006767.4(LZTR1):c.1250A>G (p.Tyr417Cys)
|
|
|
NM_006767.4(LZTR1):c.1250A>T (p.Tyr417Phe)
|
|
|
NM_006767.4(LZTR1):c.1251dup (p.Arg418fs)
|
rs2147966059
|
|
NM_006767.4(LZTR1):c.1252A>T (p.Arg418Trp)
|
|
|
NM_006767.4(LZTR1):c.1253G>C (p.Arg418Thr)
|
|
|
NM_006767.4(LZTR1):c.1254G>T (p.Arg418Ser)
|
rs746064505
|
|
NM_006767.4(LZTR1):c.1258C>T (p.Gln420Ter)
|
rs2147966067
|
|
NM_006767.4(LZTR1):c.1259A>G (p.Gln420Arg)
|
|
|
NM_006767.4(LZTR1):c.1260+1G>C
|
|
|
NM_006767.4(LZTR1):c.1260+1G>T
|
|
|
NM_006767.4(LZTR1):c.1260+2T>C
|
|
|
NM_006767.4(LZTR1):c.1260+2T>G
|
|
|
NM_006767.4(LZTR1):c.1260+4T>A
|
|
|
NM_006767.4(LZTR1):c.1260+5G>A
|
|
|
NM_006767.4(LZTR1):c.1260+5G>C
|
|
|
NM_006767.4(LZTR1):c.1260G>A (p.Gln420=)
|
|
|
NM_006767.4(LZTR1):c.1261-2A>T
|
|
|
NM_006767.4(LZTR1):c.1261-3C>G
|
|
|
NM_006767.4(LZTR1):c.1261-3C>T
|
rs770882185
|
|
NM_006767.4(LZTR1):c.1263C>T (p.Phe421=)
|
|
|
NM_006767.4(LZTR1):c.1265C>T (p.Ser422Phe)
|
|
|
NM_006767.4(LZTR1):c.1265_1267del (p.Ser422del)
|
|
|
NM_006767.4(LZTR1):c.1266_1267del (p.Cys423fs)
|
|
|
NM_006767.4(LZTR1):c.1269T>C (p.Cys423=)
|
|
|
NM_006767.4(LZTR1):c.126G>A (p.Thr42=)
|
|
|
NM_006767.4(LZTR1):c.1270T>C (p.Tyr424His)
|
|
|
NM_006767.4(LZTR1):c.1272C>G (p.Tyr424Ter)
|
|
|
NM_006767.4(LZTR1):c.1272C>T (p.Tyr424=)
|
|
|
NM_006767.4(LZTR1):c.1273_1279delinsTAAGG (p.Pro425_Cys427delinsTer)
|
|
|
NM_006767.4(LZTR1):c.1274C>G (p.Pro425Arg)
|
|
|
NM_006767.4(LZTR1):c.1274C>T (p.Pro425Leu)
|
|
|
NM_006767.4(LZTR1):c.1278A>C (p.Lys426Asn)
|
|
|
NM_006767.4(LZTR1):c.1279T>C (p.Cys427Arg)
|
|
|
NM_006767.4(LZTR1):c.1280G>A (p.Cys427Tyr)
|
|
|
NM_006767.4(LZTR1):c.1283C>A (p.Thr428Lys)
|
|
|
NM_006767.4(LZTR1):c.1283del (p.Thr428fs)
|
|
|
NM_006767.4(LZTR1):c.1284G>A (p.Thr428=)
|
|
|
NM_006767.4(LZTR1):c.1289_1303del (p.His430_Gly434del)
|
|
|
NM_006767.4(LZTR1):c.1290C>T (p.His430=)
|
|
|
NM_006767.4(LZTR1):c.1291G>A (p.Glu431Lys)
|
|
|
NM_006767.4(LZTR1):c.1291G>T (p.Glu431Ter)
|
|
|
NM_006767.4(LZTR1):c.1295A>G (p.Asp432Gly)
|
|
|
NM_006767.4(LZTR1):c.1296C>T (p.Asp432=)
|
|
|
NM_006767.4(LZTR1):c.1297T>C (p.Tyr433His)
|
|
|
NM_006767.4(LZTR1):c.1297T>G (p.Tyr433Asp)
|
|
|
NM_006767.4(LZTR1):c.1298A>C (p.Tyr433Ser)
|
|
|
NM_006767.4(LZTR1):c.1298A>G (p.Tyr433Cys)
|
|
|
NM_006767.4(LZTR1):c.12G>A (p.Pro4=)
|
|
|
NM_006767.4(LZTR1):c.1300G>A (p.Gly434Arg)
|
|
|
NM_006767.4(LZTR1):c.1302G>C (p.Gly434=)
|
|
|
NM_006767.4(LZTR1):c.1305G>C (p.Arg435=)
|
|
|
NM_006767.4(LZTR1):c.1306C>T (p.Leu436=)
|
|
|
NM_006767.4(LZTR1):c.1307T>C (p.Leu436Pro)
|
|
|
NM_006767.4(LZTR1):c.1307T>G (p.Leu436Arg)
|
|
|
NM_006767.4(LZTR1):c.1310G>A (p.Trp437Ter)
|
rs746949078
|
|
NM_006767.4(LZTR1):c.1310G>C (p.Trp437Ser)
|
|
|
NM_006767.4(LZTR1):c.1312G>T (p.Glu438Ter)
|
|
|
NM_006767.4(LZTR1):c.1313A>C (p.Glu438Ala)
|
|
|
NM_006767.4(LZTR1):c.1314G>A (p.Glu438=)
|
|
|
NM_006767.4(LZTR1):c.1319G>A (p.Arg440His)
|
|
|
NM_006767.4(LZTR1):c.1322A>G (p.Gln441Arg)
|
rs1660437007
|
|
NM_006767.4(LZTR1):c.1323G>A (p.Gln441=)
|
|
|
NM_006767.4(LZTR1):c.1328G>A (p.Cys443Tyr)
|
|
|
NM_006767.4(LZTR1):c.1330G>C (p.Asp444His)
|
|
|
NM_006767.4(LZTR1):c.1330G>T (p.Asp444Tyr)
|
|
|
NM_006767.4(LZTR1):c.1331A>G (p.Asp444Gly)
|
|
|
NM_006767.4(LZTR1):c.1331A>T (p.Asp444Val)
|
|
|
NM_006767.4(LZTR1):c.1332C>G (p.Asp444Glu)
|
|
|
NM_006767.4(LZTR1):c.1334_1336del (p.Val445del)
|
|
|
NM_006767.4(LZTR1):c.1335G>A (p.Val445=)
|
|
|
NM_006767.4(LZTR1):c.1336G>A (p.Glu446Lys)
|
|
|
NM_006767.4(LZTR1):c.1336G>C (p.Glu446Gln)
|
|
|
NM_006767.4(LZTR1):c.1341C>A (p.Phe447Leu)
|
rs201016956
|
|
NM_006767.4(LZTR1):c.1341C>G (p.Phe447Leu)
|
|
|
NM_006767.4(LZTR1):c.1341C>T (p.Phe447=)
|
rs201016956
|
|
NM_006767.4(LZTR1):c.1342G>A (p.Val448Met)
|
|
|
NM_006767.4(LZTR1):c.1344G>A (p.Val448=)
|
|
|
NM_006767.4(LZTR1):c.1346T>C (p.Leu449Pro)
|
|
|
NM_006767.4(LZTR1):c.1346T>G (p.Leu449Arg)
|
rs1337420891
|
|
NM_006767.4(LZTR1):c.1348G>A (p.Gly450Ser)
|
|
|
NM_006767.4(LZTR1):c.1348G>C (p.Gly450Arg)
|
|
|
NM_006767.4(LZTR1):c.1349G>A (p.Gly450Asp)
|
|
|
NM_006767.4(LZTR1):c.1352A>T (p.Glu451Val)
|
|
|
NM_006767.4(LZTR1):c.1353+1G>A
|
|
|
NM_006767.4(LZTR1):c.1353+1G>T
|
|
|
NM_006767.4(LZTR1):c.1353+2T>G
|
|
|
NM_006767.4(LZTR1):c.1353+4G>A
|
|
|
NM_006767.4(LZTR1):c.1353+4G>C
|
|
|
NM_006767.4(LZTR1):c.1353+5G>T
|
|
|
NM_006767.4(LZTR1):c.1353G>A (p.Glu451=)
|
|
|
NM_006767.4(LZTR1):c.1353G>C (p.Glu451Asp)
|
|
|
NM_006767.4(LZTR1):c.1354-2A>G
|
|
|
NM_006767.4(LZTR1):c.1354-5T>C
|
|
|
NM_006767.4(LZTR1):c.1357G>A (p.Glu453Lys)
|
|
|
NM_006767.4(LZTR1):c.1357GAG[1] (p.Glu454del)
|
|
|
NM_006767.4(LZTR1):c.1359G>A (p.Glu453=)
|
rs2147966987
|
|
NM_006767.4(LZTR1):c.135C>A (p.Phe45Leu)
|
|
|
NM_006767.4(LZTR1):c.135C>G (p.Phe45Leu)
|
|
|
NM_006767.4(LZTR1):c.135C>T (p.Phe45=)
|
|
|
NM_006767.4(LZTR1):c.1360G>T (p.Glu454Ter)
|
|
|
NM_006767.4(LZTR1):c.1360_1361delinsTGC (p.Glu454fs)
|
|
|
NM_006767.4(LZTR1):c.1361A>C (p.Glu454Ala)
|
|
|
NM_006767.4(LZTR1):c.1364G>T (p.Cys455Phe)
|
|
|
NM_006767.4(LZTR1):c.1365C>A (p.Cys455Ter)
|
|
|
NM_006767.4(LZTR1):c.1366G>A (p.Val456Met)
|
rs565109294
|
|
NM_006767.4(LZTR1):c.1369C>T (p.Gln457Ter)
|
|
|
NM_006767.4(LZTR1):c.136G>A (p.Gly46Arg)
|
rs1273423585
|
|
NM_006767.4(LZTR1):c.1370A>T (p.Gln457Leu)
|
|
|
NM_006767.4(LZTR1):c.1372G>A (p.Gly458Ser)
|
|
|
NM_006767.4(LZTR1):c.1373G>A (p.Gly458Asp)
|
rs1303528589
|
|
NM_006767.4(LZTR1):c.1373G>C (p.Gly458Ala)
|
|
|
NM_006767.4(LZTR1):c.1373G>T (p.Gly458Val)
|
|
|
NM_006767.4(LZTR1):c.1375C>A (p.His459Asn)
|
|
|
NM_006767.4(LZTR1):c.1375C>G (p.His459Asp)
|
|
|
NM_006767.4(LZTR1):c.1376A>G (p.His459Arg)
|
|
|
NM_006767.4(LZTR1):c.1378G>A (p.Val460Ile)
|
|
|
NM_006767.4(LZTR1):c.1379T>C (p.Val460Ala)
|
rs982153864
|
|
NM_006767.4(LZTR1):c.1379T>G (p.Val460Gly)
|
|
|
NM_006767.4(LZTR1):c.1381G>A (p.Ala461Thr)
|
|
|
NM_006767.4(LZTR1):c.1382C>A (p.Ala461Asp)
|
rs1569156890
|
|
NM_006767.4(LZTR1):c.1383C>T (p.Ala461=)
|
|
|
NM_006767.4(LZTR1):c.1385T>G (p.Ile462Ser)
|
rs147684991
|
|
NM_006767.4(LZTR1):c.1386T>C (p.Ile462=)
|
|
|
NM_006767.4(LZTR1):c.1388T>A (p.Val463Asp)
|
|
|
NM_006767.4(LZTR1):c.1388T>G (p.Val463Gly)
|
|
|
NM_006767.4(LZTR1):c.1391del (p.Thr464fs)
|
|
|
NM_006767.4(LZTR1):c.1393G>A (p.Ala465Thr)
|
rs2147967038
|
|
NM_006767.4(LZTR1):c.1393G>C (p.Ala465Pro)
|
|
|
NM_006767.4(LZTR1):c.1395G>T (p.Ala465=)
|
|
|
NM_006767.4(LZTR1):c.1396C>A (p.Arg466=)
|
|
|
NM_006767.4(LZTR1):c.1397G>C (p.Arg466Pro)
|
|
|
NM_006767.4(LZTR1):c.1397G>T (p.Arg466Leu)
|
rs587777180
|
|
NM_006767.4(LZTR1):c.139C>A (p.Pro47Thr)
|
|
|
NM_006767.4(LZTR1):c.139C>T (p.Pro47Ser)
|
|
|
NM_006767.4(LZTR1):c.1400G>A (p.Ser467Asn)
|
|
|
NM_006767.4(LZTR1):c.1400_1426del (p.Ser467_Gln476delinsLys)
|
|
|
NM_006767.4(LZTR1):c.1401C>A (p.Ser467Arg)
|
|
|
NM_006767.4(LZTR1):c.1401C>T (p.Ser467=)
|
|
|
NM_006767.4(LZTR1):c.1403G>T (p.Arg468Leu)
|
|
|
NM_006767.4(LZTR1):c.1404C>G (p.Arg468=)
|
|
|
NM_006767.4(LZTR1):c.1405T>G (p.Trp469Gly)
|
|
|
NM_006767.4(LZTR1):c.1406G>A (p.Trp469Ter)
|
|
|
NM_006767.4(LZTR1):c.1409T>A (p.Leu470His)
|
|
|
NM_006767.4(LZTR1):c.1409T>C (p.Leu470Pro)
|
|
|
NM_006767.4(LZTR1):c.1409T>G (p.Leu470Arg)
|
|
|
NM_006767.4(LZTR1):c.140C>T (p.Pro47Leu)
|
|
|
NM_006767.4(LZTR1):c.1410T>G (p.Leu470=)
|
|
|
NM_006767.4(LZTR1):c.1412G>C (p.Arg471Pro)
|
rs139031749
|
|
NM_006767.4(LZTR1):c.1412G>T (p.Arg471Leu)
|
|
|
NM_006767.4(LZTR1):c.1413C>G (p.Arg471=)
|
|
|
NM_006767.4(LZTR1):c.1415G>C (p.Arg472Thr)
|
rs1160425168
|
|
NM_006767.4(LZTR1):c.1419G>A (p.Lys473=)
|
|
|
NM_006767.4(LZTR1):c.1419G>C (p.Lys473Asn)
|
|
|
NM_006767.4(LZTR1):c.1420A>G (p.Ile474Val)
|
|
|
NM_006767.4(LZTR1):c.1421T>A (p.Ile474Asn)
|
|
|
NM_006767.4(LZTR1):c.1422C>A (p.Ile474=)
|
|
|
NM_006767.4(LZTR1):c.1426C>T (p.Gln476Ter)
|
|
|
NM_006767.4(LZTR1):c.1426del (p.Gln476fs)
|
|
|
NM_006767.4(LZTR1):c.1427A>G (p.Gln476Arg)
|
|
|
NM_006767.4(LZTR1):c.1428G>A (p.Gln476=)
|
rs2147967090
|
|
NM_006767.4(LZTR1):c.1429G>C (p.Ala477Pro)
|
|
|
NM_006767.4(LZTR1):c.142T>G (p.Phe48Val)
|
|
|
NM_006767.4(LZTR1):c.1430C>G (p.Ala477Gly)
|
|
|
NM_006767.4(LZTR1):c.1430C>T (p.Ala477Val)
|
rs762005490
|
|
NM_006767.4(LZTR1):c.1431G>A (p.Ala477=)
|
|
|
NM_006767.4(LZTR1):c.1432C>A (p.Arg478=)
|
rs150365548
|
|
NM_006767.4(LZTR1):c.1435G>A (p.Glu479Lys)
|
|
|
NM_006767.4(LZTR1):c.1438A>T (p.Arg480Trp)
|
|
|
NM_006767.4(LZTR1):c.1439G>A (p.Arg480Lys)
|
|
|
NM_006767.4(LZTR1):c.1444G>A (p.Ala482Thr)
|
|
|
NM_006767.4(LZTR1):c.1446C>A (p.Ala482=)
|
|
|
NM_006767.4(LZTR1):c.1446C>T (p.Ala482=)
|
|
|
NM_006767.4(LZTR1):c.1447C>T (p.Gln483Ter)
|
rs752547717
|
|
NM_006767.4(LZTR1):c.1448A>C (p.Gln483Pro)
|
|
|
NM_006767.4(LZTR1):c.1449+1G>A
|
|
|
NM_006767.4(LZTR1):c.1449+1G>C
|
|
|
NM_006767.4(LZTR1):c.1449+1G>T
|
|
|
NM_006767.4(LZTR1):c.1449+2T>C
|
|
|
NM_006767.4(LZTR1):c.1449+2T>G
|
|
|
NM_006767.4(LZTR1):c.1449G>A (p.Gln483=)
|
|
|
NM_006767.4(LZTR1):c.1449G>C (p.Gln483His)
|
|
|
NM_006767.4(LZTR1):c.144C>G (p.Phe48Leu)
|
|
|
NM_006767.4(LZTR1):c.144C>T (p.Phe48=)
|
|
|
NM_006767.4(LZTR1):c.1450-1G>A
|
|
|
NM_006767.4(LZTR1):c.1450-3C>A
|
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|
NM_006767.4(LZTR1):c.1450-3C>T
|
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|
NM_006767.4(LZTR1):c.1450-5C>G
|
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|
NM_006767.4(LZTR1):c.1450-5C>T
|
rs760733168
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NM_006767.4(LZTR1):c.1451A>C (p.Lys484Thr)
|
|
|
NM_006767.4(LZTR1):c.1453C>T (p.Leu485=)
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|
NM_006767.4(LZTR1):c.1455G>A (p.Leu485=)
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|
NM_006767.4(LZTR1):c.1456_1468del (p.Glu486fs)
|
|
|
NM_006767.4(LZTR1):c.1457A>T (p.Glu486Val)
|
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|
NM_006767.4(LZTR1):c.1458G>A (p.Glu486=)
|
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|
NM_006767.4(LZTR1):c.1459C>T (p.Gln487Ter)
|
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|
NM_006767.4(LZTR1):c.145G>T (p.Glu49Ter)
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NM_006767.4(LZTR1):c.1462G>T (p.Glu488Ter)
|
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NM_006767.4(LZTR1):c.1463A>C (p.Glu488Ala)
|
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|
NM_006767.4(LZTR1):c.1466C>G (p.Ala489Gly)
|
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|
NM_006767.4(LZTR1):c.1466C>T (p.Ala489Val)
|
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|
NM_006767.4(LZTR1):c.1467C>A (p.Ala489=)
|
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|
NM_006767.4(LZTR1):c.1468G>T (p.Ala490Ser)
|
rs1329226132
|
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NM_006767.4(LZTR1):c.146A>C (p.Glu49Ala)
|
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|
NM_006767.4(LZTR1):c.1470C>T (p.Ala490=)
|
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|
NM_006767.4(LZTR1):c.1472dup (p.Val492fs)
|
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|
NM_006767.4(LZTR1):c.1474G>A (p.Val492Ile)
|
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NM_006767.4(LZTR1):c.1475T>G (p.Val492Gly)
|
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NM_006767.4(LZTR1):c.1477C>T (p.Pro493Ser)
|
|
|
NM_006767.4(LZTR1):c.1478C>A (p.Pro493His)
|
rs2147967251
|
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NM_006767.4(LZTR1):c.1478C>T (p.Pro493Leu)
|
|
|
NM_006767.4(LZTR1):c.1479C>T (p.Pro493=)
|
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|
NM_006767.4(LZTR1):c.147A>G (p.Glu49=)
|
|
|
NM_006767.4(LZTR1):c.1480A>G (p.Arg494Gly)
|
rs2147967253
|
|
NM_006767.4(LZTR1):c.1480del (p.Arg494fs)
|
|
|
NM_006767.4(LZTR1):c.1481G>A (p.Arg494Lys)
|
|
|
NM_006767.4(LZTR1):c.1485G>A (p.Glu495=)
|
rs1265536815
|
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NM_006767.4(LZTR1):c.1485G>T (p.Glu495Asp)
|
|
|
NM_006767.4(LZTR1):c.1486G>C (p.Ala496Pro)
|
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|
NM_006767.4(LZTR1):c.1486G>T (p.Ala496Ser)
|
|
|
NM_006767.4(LZTR1):c.1486_1487delinsTA (p.Ala496Tyr)
|
rs2147967267
|
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NM_006767.4(LZTR1):c.1487C>A (p.Ala496Asp)
|
|
|
NM_006767.4(LZTR1):c.1487C>T (p.Ala496Val)
|
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|
NM_006767.4(LZTR1):c.1488C>T (p.Ala496=)
|
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NM_006767.4(LZTR1):c.1490C>T (p.Pro497Leu)
|
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|
NM_006767.4(LZTR1):c.1491C>A (p.Pro497=)
|
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|
NM_006767.4(LZTR1):c.1491del (p.Gly498fs)
|
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|
NM_006767.4(LZTR1):c.1492G>T (p.Gly498Cys)
|
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|
NM_006767.4(LZTR1):c.1493G>A (p.Gly498Asp)
|
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NM_006767.4(LZTR1):c.1493G>C (p.Gly498Ala)
|
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NM_006767.4(LZTR1):c.1493del (p.Gly498fs)
|
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|
NM_006767.4(LZTR1):c.1495G>A (p.Val499Met)
|
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|
NM_006767.4(LZTR1):c.1495G>T (p.Val499Leu)
|
|
|
NM_006767.4(LZTR1):c.1496T>C (p.Val499Ala)
|
|
|
NM_006767.4(LZTR1):c.1497G>A (p.Val499=)
|
rs1456975132
|
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NM_006767.4(LZTR1):c.14G>A (p.Gly5Asp)
|
|
|
NM_006767.4(LZTR1):c.1500T>G (p.Ala500=)
|
|
|
NM_006767.4(LZTR1):c.1503T>G (p.Ala501=)
|
|
|
NM_006767.4(LZTR1):c.1504G>T (p.Gly502Cys)
|
|
|
NM_006767.4(LZTR1):c.1507G>A (p.Gly503Arg)
|
|
|
NM_006767.4(LZTR1):c.150A>G (p.Thr50=)
|
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|
NM_006767.4(LZTR1):c.150A>T (p.Thr50=)
|
|
|
NM_006767.4(LZTR1):c.1510G>A (p.Ala504Thr)
|
|
|
NM_006767.4(LZTR1):c.1512C>T (p.Ala504=)
|
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|
NM_006767.4(LZTR1):c.1513C>A (p.Arg505=)
|
|
|
NM_006767.4(LZTR1):c.1513C>G (p.Arg505Gly)
|
rs770974858
|
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NM_006767.4(LZTR1):c.1513C>T (p.Arg505Trp)
|
rs770974858
|
|
NM_006767.4(LZTR1):c.1515G>A (p.Arg505=)
|
|
|
NM_006767.4(LZTR1):c.1516C>T (p.Pro506Ser)
|
|
|
NM_006767.4(LZTR1):c.1518G>A (p.Pro506=)
|
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|
NM_006767.4(LZTR1):c.1522C>T (p.Leu508=)
|
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|
NM_006767.4(LZTR1):c.1525C>T (p.Leu509=)
|
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|
NM_006767.4(LZTR1):c.1526T>G (p.Leu509Arg)
|
|
|
NM_006767.4(LZTR1):c.1527G>A (p.Leu509=)
|
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|
NM_006767.4(LZTR1):c.1531del (p.Val511fs)
|
rs771982640
|
|
NM_006767.4(LZTR1):c.1532T>C (p.Val511Ala)
|
|
|
NM_006767.4(LZTR1):c.1534G>C (p.Ala512Pro)
|
|
|
NM_006767.4(LZTR1):c.1537A>C (p.Ile513Leu)
|
|
|
NM_006767.4(LZTR1):c.1537A>T (p.Ile513Phe)
|
|
|
NM_006767.4(LZTR1):c.1538T>C (p.Ile513Thr)
|
|
|
NM_006767.4(LZTR1):c.1539C>A (p.Ile513=)
|
|
|
NM_006767.4(LZTR1):c.153G>T (p.Val51=)
|
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|
NM_006767.4(LZTR1):c.1542G>A (p.Arg514=)
|
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|
NM_006767.4(LZTR1):c.1544A>T (p.Glu515Val)
|
|
|
NM_006767.4(LZTR1):c.1545G>A (p.Glu515=)
|
rs2147967370
|
|
NM_006767.4(LZTR1):c.1549G>T (p.Glu517Ter)
|
|
|
NM_006767.4(LZTR1):c.154C>T (p.His52Tyr)
|
|
|
NM_006767.4(LZTR1):c.1550A>C (p.Glu517Ala)
|
|
|
NM_006767.4(LZTR1):c.1553C>A (p.Ala518Asp)
|
|
|
NM_006767.4(LZTR1):c.1553C>T (p.Ala518Val)
|
|
|
NM_006767.4(LZTR1):c.1554C>T (p.Ala518=)
|
|
|
NM_006767.4(LZTR1):c.1556G>C (p.Arg519Pro)
|
|
|
NM_006767.4(LZTR1):c.155A>G (p.His52Arg)
|
|
|
NM_006767.4(LZTR1):c.1560C>G (p.Pro520=)
|
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|
NM_006767.4(LZTR1):c.1560C>T (p.Pro520=)
|
|
|
NM_006767.4(LZTR1):c.1561T>C (p.Phe521Leu)
|
|
|
NM_006767.4(LZTR1):c.1561T>G (p.Phe521Val)
|
rs1924722057
|
|
NM_006767.4(LZTR1):c.1562T>G (p.Phe521Cys)
|
|
|
NM_006767.4(LZTR1):c.1563C>A (p.Phe521Leu)
|
|
|
NM_006767.4(LZTR1):c.1564G>C (p.Glu522Gln)
|
|
|
NM_006767.4(LZTR1):c.1567G>A (p.Val523Met)
|
|
|
NM_006767.4(LZTR1):c.1567G>T (p.Val523Leu)
|
|
|
NM_006767.4(LZTR1):c.1569G>A (p.Val523=)
|
|
|
NM_006767.4(LZTR1):c.1569G>C (p.Val523=)
|
|
|
NM_006767.4(LZTR1):c.1571T>A (p.Leu524His)
|
|
|
NM_006767.4(LZTR1):c.1571T>C (p.Leu524Pro)
|
|
|
NM_006767.4(LZTR1):c.1573A>C (p.Met525Leu)
|
|
|
NM_006767.4(LZTR1):c.1573A>G (p.Met525Val)
|
|
|
NM_006767.4(LZTR1):c.1574T>A (p.Met525Lys)
|
|
|
NM_006767.4(LZTR1):c.1574T>C (p.Met525Thr)
|
|
|
NM_006767.4(LZTR1):c.1577A>C (p.Gln526Pro)
|
|
|
NM_006767.4(LZTR1):c.1578G>T (p.Gln526His)
|
|
|
NM_006767.4(LZTR1):c.1579T>C (p.Phe527Leu)
|
|
|
NM_006767.4(LZTR1):c.157C>T (p.Arg53Cys)
|
rs1329142115
|
|
NM_006767.4(LZTR1):c.1580T>C (p.Phe527Ser)
|
|
|
NM_006767.4(LZTR1):c.1581C>G (p.Phe527Leu)
|
rs2147967432
|
|
NM_006767.4(LZTR1):c.1582C>G (p.Leu528Val)
|
rs1331354829
|
|
NM_006767.4(LZTR1):c.1582C>T (p.Leu528Phe)
|
|
|
NM_006767.4(LZTR1):c.1583T>G (p.Leu528Arg)
|
|
|
NM_006767.4(LZTR1):c.1584C>G (p.Leu528=)
|
|
|
NM_006767.4(LZTR1):c.1585T>A (p.Tyr529Asn)
|
|
|
NM_006767.4(LZTR1):c.1585T>G (p.Tyr529Asp)
|
|
|
NM_006767.4(LZTR1):c.1586A>G (p.Tyr529Cys)
|
|
|
NM_006767.4(LZTR1):c.1586A>T (p.Tyr529Phe)
|
|
|
NM_006767.4(LZTR1):c.1587C>T (p.Tyr529=)
|
rs371015800
|
|
NM_006767.4(LZTR1):c.1589C>T (p.Thr530Ile)
|
|
|
NM_006767.4(LZTR1):c.1590C>A (p.Thr530=)
|
|
|
NM_006767.4(LZTR1):c.1590C>G (p.Thr530=)
|
|
|
NM_006767.4(LZTR1):c.1590C>T (p.Thr530=)
|
|
|
NM_006767.4(LZTR1):c.1591G>C (p.Asp531His)
|
|
|
NM_006767.4(LZTR1):c.1591G>T (p.Asp531Tyr)
|
|
|
NM_006767.4(LZTR1):c.1596G>A (p.Lys532=)
|
|
|
NM_006767.4(LZTR1):c.1596G>C (p.Lys532Asn)
|
|
|
NM_006767.4(LZTR1):c.1598T>A (p.Ile533Asn)
|
|
|
NM_006767.4(LZTR1):c.159C>T (p.Arg53=)
|
|
|
NM_006767.4(LZTR1):c.1602del (p.Lys534fs)
|
rs1268674934
|
|
NM_006767.4(LZTR1):c.1603T>A (p.Tyr535Asn)
|
|
|
NM_006767.4(LZTR1):c.1603T>C (p.Tyr535His)
|
|
|
NM_006767.4(LZTR1):c.1604A>C (p.Tyr535Ser)
|
|
|
NM_006767.4(LZTR1):c.1605C>A (p.Tyr535Ter)
|
rs753347937
|
|
NM_006767.4(LZTR1):c.1605C>T (p.Tyr535=)
|
|
|
NM_006767.4(LZTR1):c.1608A>C (p.Pro536=)
|
|
|
NM_006767.4(LZTR1):c.1608A>G (p.Pro536=)
|
|
|
NM_006767.4(LZTR1):c.160T>C (p.Trp54Arg)
|
|
|
NM_006767.4(LZTR1):c.160T>G (p.Trp54Gly)
|
|
|
NM_006767.4(LZTR1):c.1610G>T (p.Arg537Leu)
|
|
|
NM_006767.4(LZTR1):c.1611G>A (p.Arg537=)
|
|
|
NM_006767.4(LZTR1):c.1611del (p.Gly539fs)
|
|
|
NM_006767.4(LZTR1):c.1612A>T (p.Lys538Ter)
|
|
|
NM_006767.4(LZTR1):c.1614A>G (p.Lys538=)
|
|
|
NM_006767.4(LZTR1):c.1615+1G>A
|
|
|
NM_006767.4(LZTR1):c.1615G>T (p.Gly539Cys)
|
|
|
NM_006767.4(LZTR1):c.1616-1G>A
|
|
|
NM_006767.4(LZTR1):c.1616-1G>C
|
|
|
NM_006767.4(LZTR1):c.1616-2A>C
|
|
|
NM_006767.4(LZTR1):c.1616-2A>G
|
rs1328046881
|
|
NM_006767.4(LZTR1):c.1616-2_1616-1delinsCC
|
|
|
NM_006767.4(LZTR1):c.1616-4G>A
|
|
|
NM_006767.4(LZTR1):c.1616-4G>C
|
rs368206951
|
|
NM_006767.4(LZTR1):c.1616-4G>T
|
rs368206951
|
|
NM_006767.4(LZTR1):c.1616-4del
|
|
|
NM_006767.4(LZTR1):c.1616-5C>A
|
|
|
NM_006767.4(LZTR1):c.1616G>A (p.Gly539Asp)
|
rs746896119
|
|
NM_006767.4(LZTR1):c.1616G>T (p.Gly539Val)
|
|
|
NM_006767.4(LZTR1):c.1619A>C (p.His540Pro)
|
|
|
NM_006767.4(LZTR1):c.1619A>T (p.His540Leu)
|
|
|
NM_006767.4(LZTR1):c.161G>A (p.Trp54Ter)
|
|
|
NM_006767.4(LZTR1):c.1620T>A (p.His540Gln)
|
rs141610191
|
|
NM_006767.4(LZTR1):c.1620T>C (p.His540=)
|
rs141610191
|
|
NM_006767.4(LZTR1):c.1620T>G (p.His540Gln)
|
|
|
NM_006767.4(LZTR1):c.1621G>T (p.Val541Leu)
|
rs1009167232
|
|
NM_006767.4(LZTR1):c.1622T>G (p.Val541Gly)
|
rs2147967847
|
|
NM_006767.4(LZTR1):c.1625A>G (p.Glu542Gly)
|
|
|
NM_006767.4(LZTR1):c.1625A>T (p.Glu542Val)
|
|
|
NM_006767.4(LZTR1):c.1626G>A (p.Glu542=)
|
|
|
NM_006767.4(LZTR1):c.1628A>G (p.Asp543Gly)
|
|
|
NM_006767.4(LZTR1):c.1633C>T (p.Leu545=)
|
|
|
NM_006767.4(LZTR1):c.1638C>T (p.Leu546=)
|
|
|
NM_006767.4(LZTR1):c.1638CAT[1] (p.Ile547del)
|
rs2147967861
|
|
NM_006767.4(LZTR1):c.1639A>G (p.Ile547Val)
|
|
|
NM_006767.4(LZTR1):c.163C>G (p.Arg55Gly)
|
rs1924233130
|
|
NM_006767.4(LZTR1):c.163C>T (p.Arg55Trp)
|
|
|
NM_006767.4(LZTR1):c.1644G>A (p.Met548Ile)
|
|
|
NM_006767.4(LZTR1):c.1645G>A (p.Asp549Asn)
|
|
|
NM_006767.4(LZTR1):c.1646A>G (p.Asp549Gly)
|
|
|
NM_006767.4(LZTR1):c.1647T>C (p.Asp549=)
|
|
|
NM_006767.4(LZTR1):c.1648G>C (p.Val550Leu)
|
|
|
NM_006767.4(LZTR1):c.1651T>G (p.Tyr551Asp)
|
|
|
NM_006767.4(LZTR1):c.1653C>A (p.Tyr551Ter)
|
|
|
NM_006767.4(LZTR1):c.1653C>G (p.Tyr551Ter)
|
|
|
NM_006767.4(LZTR1):c.1655A>G (p.Lys552Arg)
|
|
|
NM_006767.4(LZTR1):c.1658T>C (p.Leu553Pro)
|
rs1349551741
|
|
NM_006767.4(LZTR1):c.1658T>G (p.Leu553Arg)
|
|
|
NM_006767.4(LZTR1):c.1659G>A (p.Leu553=)
|
rs1924750862
|
|
NM_006767.4(LZTR1):c.165G>A (p.Arg55=)
|
|
|
NM_006767.4(LZTR1):c.165_181dup (p.Asp61fs)
|
|
|
NM_006767.4(LZTR1):c.1661C>T (p.Ala554Val)
|
rs745597950
|
|
NM_006767.4(LZTR1):c.1662A>G (p.Ala554=)
|
|
|
NM_006767.4(LZTR1):c.1662A>T (p.Ala554=)
|
|
|
NM_006767.4(LZTR1):c.1663C>G (p.Leu555Val)
|
rs956463805
|
|
NM_006767.4(LZTR1):c.1664T>G (p.Leu555Arg)
|
|
|
NM_006767.4(LZTR1):c.1666A>G (p.Ser556Gly)
|
|
|
NM_006767.4(LZTR1):c.1667G>A (p.Ser556Asn)
|
|
|
NM_006767.4(LZTR1):c.1667G>C (p.Ser556Thr)
|
|
|
NM_006767.4(LZTR1):c.1669T>G (p.Phe557Val)
|
|
|
NM_006767.4(LZTR1):c.1671C>T (p.Phe557=)
|
|
|
NM_006767.4(LZTR1):c.1672C>T (p.Gln558Ter)
|
|
|
NM_006767.4(LZTR1):c.1674G>C (p.Gln558His)
|
|
|
NM_006767.4(LZTR1):c.1676T>C (p.Leu559Ser)
|
|
|
NM_006767.4(LZTR1):c.1677G>C (p.Leu559Phe)
|
|
|
NM_006767.4(LZTR1):c.1678T>G (p.Cys560Gly)
|
|
|
NM_006767.4(LZTR1):c.167G>A (p.Arg56His)
|
|
|
NM_006767.4(LZTR1):c.1681C>T (p.Arg561Cys)
|
|
|
NM_006767.4(LZTR1):c.1681_1683delinsTGT (p.Arg561Cys)
|
|
|
NM_006767.4(LZTR1):c.1682G>A (p.Arg561His)
|
rs970027059
|
|
NM_006767.4(LZTR1):c.1682G>T (p.Arg561Leu)
|
|
|
NM_006767.4(LZTR1):c.1683C>G (p.Arg561=)
|
|
|
NM_006767.4(LZTR1):c.1685T>C (p.Leu562Pro)
|
|
|
NM_006767.4(LZTR1):c.1685_1702del (p.Leu562_Arg567del)
|
|
|
NM_006767.4(LZTR1):c.1685_1702dup (p.Arg567_Gln568insLeuGluGlnLeuCysArg)
|
rs1924752851
|
|
NM_006767.4(LZTR1):c.1686G>A (p.Leu562=)
|
|
|
NM_006767.4(LZTR1):c.1687G>A (p.Glu563Lys)
|
|
|
NM_006767.4(LZTR1):c.1687G>T (p.Glu563Ter)
|
|
|
NM_006767.4(LZTR1):c.1688A>G (p.Glu563Gly)
|
|
|
NM_006767.4(LZTR1):c.1690C>T (p.Gln564Ter)
|
|
|
NM_006767.4(LZTR1):c.1691A>G (p.Gln564Arg)
|
|
|
NM_006767.4(LZTR1):c.1692G>T (p.Gln564His)
|
|
|
NM_006767.4(LZTR1):c.1694T>C (p.Leu565Pro)
|
|
|
NM_006767.4(LZTR1):c.1696T>C (p.Cys566Arg)
|
|
|
NM_006767.4(LZTR1):c.1697G>A (p.Cys566Tyr)
|
|
|
NM_006767.4(LZTR1):c.1698C>A (p.Cys566Ter)
|
|
|
NM_006767.4(LZTR1):c.1699C>T (p.Arg567Cys)
|
|
|
NM_006767.4(LZTR1):c.16A>C (p.Ser6Arg)
|
|
|
NM_006767.4(LZTR1):c.1700G>A (p.Arg567His)
|
rs372417941
|
|
NM_006767.4(LZTR1):c.1700G>C (p.Arg567Pro)
|
rs372417941
|
|
NM_006767.4(LZTR1):c.1707C>T (p.Tyr569=)
|
|
|
NM_006767.4(LZTR1):c.1709T>C (p.Ile570Thr)
|
rs954974816
|
|
NM_006767.4(LZTR1):c.1710C>G (p.Ile570Met)
|
|
|
NM_006767.4(LZTR1):c.1714G>T (p.Ala572Ser)
|
|
|
NM_006767.4(LZTR1):c.1716C>A (p.Ala572=)
|
|
|
NM_006767.4(LZTR1):c.1716C>G (p.Ala572=)
|
|
|
NM_006767.4(LZTR1):c.1717_1719dup (p.Ser573_Val574insSer)
|
|
|
NM_006767.4(LZTR1):c.1720G>A (p.Val574Met)
|
|
|
NM_006767.4(LZTR1):c.1723G>T (p.Asp575Tyr)
|
|
|
NM_006767.4(LZTR1):c.1725C>T (p.Asp575=)
|
rs2147968019
|
|
NM_006767.4(LZTR1):c.1726C>T (p.Leu576=)
|
rs1169803340
|
|
NM_006767.4(LZTR1):c.1726del (p.Leu576fs)
|
|
|
NM_006767.4(LZTR1):c.1727T>G (p.Leu576Arg)
|
|
|
NM_006767.4(LZTR1):c.1728G>A (p.Leu576=)
|
|
|
NM_006767.4(LZTR1):c.1731G>C (p.Gln577His)
|
|
|
NM_006767.4(LZTR1):c.1732A>G (p.Asn578Asp)
|
|
|
NM_006767.4(LZTR1):c.1733del (p.Asn578fs)
|
|
|
NM_006767.4(LZTR1):c.1735G>C (p.Val579Leu)
|
|
|
NM_006767.4(LZTR1):c.1735G>T (p.Val579Leu)
|
|
|
NM_006767.4(LZTR1):c.1737G>C (p.Val579=)
|
|
|
NM_006767.4(LZTR1):c.1741G>T (p.Val581Phe)
|
|
|
NM_006767.4(LZTR1):c.1741del (p.Val581fs)
|
|
|
NM_006767.4(LZTR1):c.1742T>C (p.Val581Ala)
|
|
|
NM_006767.4(LZTR1):c.1747T>C (p.Cys583Arg)
|
|
|
NM_006767.4(LZTR1):c.1749C>A (p.Cys583Ter)
|
|
|
NM_006767.4(LZTR1):c.1750G>A (p.Glu584Lys)
|
rs369697241
|
|
NM_006767.4(LZTR1):c.1750G>C (p.Glu584Gln)
|
|
|
NM_006767.4(LZTR1):c.1751A>G (p.Glu584Gly)
|
|
|
NM_006767.4(LZTR1):c.1753A>T (p.Ser585Cys)
|
|
|
NM_006767.4(LZTR1):c.1758C>A (p.Ala586=)
|
|
|
NM_006767.4(LZTR1):c.1761C>T (p.Ala587=)
|
|
|
NM_006767.4(LZTR1):c.1762C>T (p.Arg588Trp)
|
|
|
NM_006767.4(LZTR1):c.1763G>A (p.Arg588Gln)
|
|
|
NM_006767.4(LZTR1):c.1763G>C (p.Arg588Pro)
|
|
|
NM_006767.4(LZTR1):c.1764G>A (p.Arg588=)
|
|
|
NM_006767.4(LZTR1):c.1764G>C (p.Arg588=)
|
|
|
NM_006767.4(LZTR1):c.1767G>T (p.Leu589=)
|
|
|
NM_006767.4(LZTR1):c.176C>T (p.Pro59Leu)
|
|
|
NM_006767.4(LZTR1):c.1770G>A (p.Gln590=)
|
|
|
NM_006767.4(LZTR1):c.1770G>C (p.Gln590His)
|
|
|
NM_006767.4(LZTR1):c.1771C>G (p.Leu591Val)
|
|
|
NM_006767.4(LZTR1):c.1773G>C (p.Leu591=)
|
|
|
NM_006767.4(LZTR1):c.1776C>A (p.Ser592Arg)
|
|
|
NM_006767.4(LZTR1):c.177C>T (p.Pro59=)
|
|
|
NM_006767.4(LZTR1):c.1780C>G (p.Leu594Val)
|
|
|
NM_006767.4(LZTR1):c.1780C>T (p.Leu594Phe)
|
|
|
NM_006767.4(LZTR1):c.1785+2T>A
|
|
|
NM_006767.4(LZTR1):c.1785+2T>C
|
|
|
NM_006767.4(LZTR1):c.1785+2T>G
|
|
|
NM_006767.4(LZTR1):c.1785+3G>A
|
|
|
NM_006767.4(LZTR1):c.1785+4T>G
|
rs1924762620
|
|
NM_006767.4(LZTR1):c.1785+5G>T
|
|
|
NM_006767.4(LZTR1):c.1785G>A (p.Lys595=)
|
|
|
NM_006767.4(LZTR1):c.1786-14C>G
|
|
|
NM_006767.4(LZTR1):c.1786-1G>T
|
|
|
NM_006767.4(LZTR1):c.1786-1_1786dup
|
|
|
NM_006767.4(LZTR1):c.1786-2A>C
|
|
|
NM_006767.4(LZTR1):c.1786-2A>G
|
rs2147968271
|
|
NM_006767.4(LZTR1):c.1786-4C>G
|
|
|
NM_006767.4(LZTR1):c.1786G>C (p.Glu596Gln)
|
|
|
NM_006767.4(LZTR1):c.1786G>T (p.Glu596Ter)
|
|
|
NM_006767.4(LZTR1):c.1787A>G (p.Glu596Gly)
|
|
|
NM_006767.4(LZTR1):c.1788G>A (p.Glu596=)
|
|
|
NM_006767.4(LZTR1):c.1792T>C (p.Cys598Arg)
|
|
|
NM_006767.4(LZTR1):c.1793G>C (p.Cys598Ser)
|
|
|
NM_006767.4(LZTR1):c.1796T>G (p.Leu599Arg)
|
|
|
NM_006767.4(LZTR1):c.1798A>G (p.Asn600Asp)
|
|
|
NM_006767.4(LZTR1):c.17G>A (p.Ser6Asn)
|
|
|
NM_006767.4(LZTR1):c.1802T>C (p.Phe601Ser)
|
|
|
NM_006767.4(LZTR1):c.1802del (p.Phe601fs)
|
|
|
NM_006767.4(LZTR1):c.1803C>T (p.Phe601=)
|
|
|
NM_006767.4(LZTR1):c.1804G>A (p.Val602Met)
|
|
|
NM_006767.4(LZTR1):c.1804G>C (p.Val602Leu)
|
|
|
NM_006767.4(LZTR1):c.1804G>T (p.Val602Leu)
|
|
|
NM_006767.4(LZTR1):c.1807G>A (p.Val603Ile)
|
|
|
NM_006767.4(LZTR1):c.1807del (p.Val602_Val603insTer)
|
|
|
NM_006767.4(LZTR1):c.180C>A (p.Cys60Ter)
|
rs766446110
|
|
NM_006767.4(LZTR1):c.180C>G (p.Cys60Trp)
|
|
|
NM_006767.4(LZTR1):c.1810A>G (p.Lys604Glu)
|
|
|
NM_006767.4(LZTR1):c.1811A>C (p.Lys604Thr)
|
|
|
NM_006767.4(LZTR1):c.1812G>C (p.Lys604Asn)
|
|
|
NM_006767.4(LZTR1):c.1813G>A (p.Glu605Lys)
|
|
|
NM_006767.4(LZTR1):c.1813G>C (p.Glu605Gln)
|
|
|
NM_006767.4(LZTR1):c.1814A>G (p.Glu605Gly)
|
|
|
NM_006767.4(LZTR1):c.1814A>T (p.Glu605Val)
|
|
|
NM_006767.4(LZTR1):c.1815G>A (p.Glu605=)
|
|
|
NM_006767.4(LZTR1):c.1815G>C (p.Glu605Asp)
|
|
|
NM_006767.4(LZTR1):c.1816T>C (p.Ser606Pro)
|
|
|
NM_006767.4(LZTR1):c.1817C>T (p.Ser606Phe)
|
|
|
NM_006767.4(LZTR1):c.1818C>G (p.Ser606=)
|
|
|
NM_006767.4(LZTR1):c.1818C>T (p.Ser606=)
|
|
|
NM_006767.4(LZTR1):c.1819C>G (p.His607Asp)
|
|
|
NM_006767.4(LZTR1):c.1819C>T (p.His607Tyr)
|
|
|
NM_006767.4(LZTR1):c.1821C>T (p.His607=)
|
|
|
NM_006767.4(LZTR1):c.1823T>G (p.Phe608Cys)
|
|
|
NM_006767.4(LZTR1):c.1824C>T (p.Phe608=)
|
|
|
NM_006767.4(LZTR1):c.1826A>T (p.Asn609Ile)
|
|
|
NM_006767.4(LZTR1):c.1827C>T (p.Asn609=)
|
|
|
NM_006767.4(LZTR1):c.1828C>T (p.Gln610Ter)
|
rs2147968331
|
|
NM_006767.4(LZTR1):c.1831G>A (p.Val611Met)
|
|
|
NM_006767.4(LZTR1):c.1831G>C (p.Val611Leu)
|
|
|
NM_006767.4(LZTR1):c.1833G>A (p.Val611=)
|
|
|
NM_006767.4(LZTR1):c.1833G>C (p.Val611=)
|
|
|
NM_006767.4(LZTR1):c.1834A>T (p.Ile612Phe)
|
|
|
NM_006767.4(LZTR1):c.1836C>G (p.Ile612Met)
|
|
|
NM_006767.4(LZTR1):c.1837A>G (p.Met613Val)
|
|
|
NM_006767.4(LZTR1):c.1837A>T (p.Met613Leu)
|
|
|
NM_006767.4(LZTR1):c.1839G>A (p.Met613Ile)
|
|
|
NM_006767.4(LZTR1):c.183C>T (p.Asp61=)
|
|
|
NM_006767.4(LZTR1):c.1841T>C (p.Met614Thr)
|
|
|
NM_006767.4(LZTR1):c.1842del (p.Met614fs)
|
|
|
NM_006767.4(LZTR1):c.1843_1845del (p.Lys615del)
|
rs746246349
|
|
NM_006767.4(LZTR1):c.1846G>T (p.Glu616Ter)
|
|
|
NM_006767.4(LZTR1):c.1848G>A (p.Glu616=)
|
|
|
NM_006767.4(LZTR1):c.1849T>C (p.Phe617Leu)
|
|
|
NM_006767.4(LZTR1):c.1850_1851dup (p.Glu618fs)
|
|
|
NM_006767.4(LZTR1):c.1853A>C (p.Glu618Ala)
|
|
|
NM_006767.4(LZTR1):c.1856G>T (p.Arg619Leu)
|
|
|
NM_006767.4(LZTR1):c.1858C>T (p.Leu620Phe)
|
|
|
NM_006767.4(LZTR1):c.1859T>C (p.Leu620Pro)
|
|
|
NM_006767.4(LZTR1):c.1859T>G (p.Leu620Arg)
|
|
|
NM_006767.4(LZTR1):c.1859_1861delinsGCG (p.Leu620_Ser621delinsArgAla)
|
|
|
NM_006767.4(LZTR1):c.1860C>G (p.Leu620=)
|
|
|
NM_006767.4(LZTR1):c.1861T>G (p.Ser621Ala)
|
|
|
NM_006767.4(LZTR1):c.1862C>T (p.Ser621Phe)
|
rs1389937904
|
|
NM_006767.4(LZTR1):c.1863C>T (p.Ser621=)
|
|
|
NM_006767.4(LZTR1):c.1864T>A (p.Ser622Thr)
|
|
|
NM_006767.4(LZTR1):c.1864T>C (p.Ser622Pro)
|
|
|
NM_006767.4(LZTR1):c.1864_1868del (p.Ser622fs)
|
|
|
NM_006767.4(LZTR1):c.1868C>G (p.Pro623Arg)
|
|
|
NM_006767.4(LZTR1):c.1868C>T (p.Pro623Leu)
|
|
|
NM_006767.4(LZTR1):c.1869_1871del (p.Leu624del)
|
|
|
NM_006767.4(LZTR1):c.1870C>T (p.Leu624=)
|
|
|
NM_006767.4(LZTR1):c.1871T>C (p.Leu624Pro)
|
|
|
NM_006767.4(LZTR1):c.1872G>A (p.Leu624=)
|
|
|
NM_006767.4(LZTR1):c.1872G>C (p.Leu624=)
|
|
|
NM_006767.4(LZTR1):c.1873A>T (p.Ile625Leu)
|
|
|
NM_006767.4(LZTR1):c.1874_1890del (p.Ile625fs)
|
|
|
NM_006767.4(LZTR1):c.1876G>A (p.Val626Met)
|
|
|
NM_006767.4(LZTR1):c.1877T>A (p.Val626Glu)
|
|
|
NM_006767.4(LZTR1):c.1877T>G (p.Val626Gly)
|
|
|
NM_006767.4(LZTR1):c.1878G>C (p.Val626=)
|
|
|
NM_006767.4(LZTR1):c.1879G>A (p.Glu627Lys)
|
|
|
NM_006767.4(LZTR1):c.1881G>A (p.Glu627=)
|
|
|
NM_006767.4(LZTR1):c.1882A>G (p.Ile628Val)
|
|
|
NM_006767.4(LZTR1):c.1883T>C (p.Ile628Thr)
|
|
|
NM_006767.4(LZTR1):c.1886T>C (p.Val629Ala)
|
|
|
NM_006767.4(LZTR1):c.1888C>A (p.Arg630=)
|
|
|
NM_006767.4(LZTR1):c.1888C>T (p.Arg630Trp)
|
rs750813513
|
|
NM_006767.4(LZTR1):c.1889G>T (p.Arg630Leu)
|
|
|
NM_006767.4(LZTR1):c.1890G>A (p.Arg630=)
|
|
|
NM_006767.4(LZTR1):c.1890G>T (p.Arg630=)
|
|
|
NM_006767.4(LZTR1):c.1893G>T (p.Arg631=)
|
|
|
NM_006767.4(LZTR1):c.1894A>G (p.Lys632Glu)
|
|
|
NM_006767.4(LZTR1):c.1895A>C (p.Lys632Thr)
|
|
|
NM_006767.4(LZTR1):c.1896G>C (p.Lys632Asn)
|
|
|
NM_006767.4(LZTR1):c.1896del (p.Lys632fs)
|
|
|
NM_006767.4(LZTR1):c.1897C>T (p.Gln633Ter)
|
|
|
NM_006767.4(LZTR1):c.1901A>C (p.Gln634Pro)
|
rs770312150
|
|
NM_006767.4(LZTR1):c.1901A>G (p.Gln634Arg)
|
|
|
NM_006767.4(LZTR1):c.1902G>A (p.Gln634=)
|
|
|
NM_006767.4(LZTR1):c.1904C>A (p.Pro635Gln)
|
|
|
NM_006767.4(LZTR1):c.1905G>A (p.Pro635=)
|
|
|
NM_006767.4(LZTR1):c.1907C>A (p.Pro636His)
|
|
|
NM_006767.4(LZTR1):c.1909_1910del (p.Pro637fs)
|
|
|
NM_006767.4(LZTR1):c.190G>A (p.Val64Met)
|
|
|
NM_006767.4(LZTR1):c.1910C>G (p.Pro637Arg)
|
|
|
NM_006767.4(LZTR1):c.1913G>C (p.Arg638Pro)
|
|
|
NM_006767.4(LZTR1):c.1914C>T (p.Arg638=)
|
|
|
NM_006767.4(LZTR1):c.1915A>G (p.Thr639Ala)
|
|
|
NM_006767.4(LZTR1):c.1916C>T (p.Thr639Ile)
|
rs2147968487
|
|
NM_006767.4(LZTR1):c.1918C>T (p.Pro640Ser)
|
|
|
NM_006767.4(LZTR1):c.1920C>T (p.Pro640=)
|
|
|
NM_006767.4(LZTR1):c.1921T>C (p.Leu641=)
|
|
|
NM_006767.4(LZTR1):c.1923G>A (p.Leu641=)
|
rs2147968498
|
|
NM_006767.4(LZTR1):c.1924G>A (p.Asp642Asn)
|
|
|
NM_006767.4(LZTR1):c.1925A>G (p.Asp642Gly)
|
|
|
NM_006767.4(LZTR1):c.1926C>G (p.Asp642Glu)
|
|
|
NM_006767.4(LZTR1):c.1928A>G (p.Gln643Arg)
|
|
|
NM_006767.4(LZTR1):c.192G>A (p.Val64=)
|
|
|
NM_006767.4(LZTR1):c.1930C>A (p.Pro644Thr)
|
|
|
NM_006767.4(LZTR1):c.1933G>A (p.Val645Met)
|
|
|
NM_006767.4(LZTR1):c.1933G>C (p.Val645Leu)
|
|
|
NM_006767.4(LZTR1):c.1934T>C (p.Val645Ala)
|
rs1190268151
|
|
NM_006767.4(LZTR1):c.1935G>A (p.Val645=)
|
|
|
NM_006767.4(LZTR1):c.1937A>G (p.Asp646Gly)
|
|
|
NM_006767.4(LZTR1):c.1938C>T (p.Asp646=)
|
|
|
NM_006767.4(LZTR1):c.1939A>T (p.Ile647Phe)
|
|
|
NM_006767.4(LZTR1):c.193_195delinsA (p.Gly65fs)
|
|
|
NM_006767.4(LZTR1):c.1940T>C (p.Ile647Thr)
|
|
|
NM_006767.4(LZTR1):c.1941T>C (p.Ile647=)
|
|
|
NM_006767.4(LZTR1):c.1942+1G>C
|
|
|
NM_006767.4(LZTR1):c.1942+1G>T
|
|
|
NM_006767.4(LZTR1):c.1942+2T>C
|
|
|
NM_006767.4(LZTR1):c.1942+343C>T
|
|
|
NM_006767.4(LZTR1):c.1942G>T (p.Gly648Cys)
|
rs1417500183
|
|
NM_006767.4(LZTR1):c.1943-1G>T
|
|
|
NM_006767.4(LZTR1):c.1943-276G>A
|
|
|
NM_006767.4(LZTR1):c.1943-27C>T
|
|
|
NM_006767.4(LZTR1):c.1943-285del
|
|
|
NM_006767.4(LZTR1):c.1943-2_1943-1insCATCTCTGATCCAGGATATGAA
|
|
|
NM_006767.4(LZTR1):c.1943-302C>G
|
|
|
NM_006767.4(LZTR1):c.1943-320G>C
|
|
|
NM_006767.4(LZTR1):c.1943-326G>A
|
|
|
NM_006767.4(LZTR1):c.1943-328T>C
|
|
|
NM_006767.4(LZTR1):c.1943-3C>T
|
rs979727897
|
|
NM_006767.4(LZTR1):c.1943-3del
|
|
|
NM_006767.4(LZTR1):c.1943-5C>G
|
|
|
NM_006767.4(LZTR1):c.1943-5C>T
|
|
|
NM_006767.4(LZTR1):c.1945A>G (p.Thr649Ala)
|
|
|
NM_006767.4(LZTR1):c.1946C>A (p.Thr649Lys)
|
|
|
NM_006767.4(LZTR1):c.1946C>T (p.Thr649Ile)
|
rs774401447
|
|
NM_006767.4(LZTR1):c.1947A>G (p.Thr649=)
|
rs748007750
|
|
NM_006767.4(LZTR1):c.194G>A (p.Gly65Asp)
|
|
|
NM_006767.4(LZTR1):c.1950_1961delinsG (p.Leu651fs)
|
|
|
NM_006767.4(LZTR1):c.1952T>C (p.Leu651Pro)
|
rs2147969203
|
|
NM_006767.4(LZTR1):c.1953G>T (p.Leu651=)
|
|
|
NM_006767.4(LZTR1):c.1954A>G (p.Ile652Val)
|
|
|
NM_006767.4(LZTR1):c.1957C>G (p.Gln653Glu)
|
|
|
NM_006767.4(LZTR1):c.1957C>T (p.Gln653Ter)
|
rs760312637
|
|
NM_006767.4(LZTR1):c.1958A>G (p.Gln653Arg)
|
|
|
NM_006767.4(LZTR1):c.195T>A (p.Gly65=)
|
|
|
NM_006767.4(LZTR1):c.1960G>A (p.Asp654Asn)
|
|
|
NM_006767.4(LZTR1):c.1961A>C (p.Asp654Ala)
|
|
|
NM_006767.4(LZTR1):c.1963A>C (p.Met655Leu)
|
|
|
NM_006767.4(LZTR1):c.1963A>G (p.Met655Val)
|
|
|
NM_006767.4(LZTR1):c.1964T>A (p.Met655Lys)
|
|
|
NM_006767.4(LZTR1):c.1964T>G (p.Met655Arg)
|
rs199696566
|
|
NM_006767.4(LZTR1):c.1965G>A (p.Met655Ile)
|
|
|
NM_006767.4(LZTR1):c.1966A>G (p.Lys656Glu)
|
|
|
NM_006767.4(LZTR1):c.1967A>G (p.Lys656Arg)
|
|
|
NM_006767.4(LZTR1):c.196G>A (p.Ala66Thr)
|
|
|
NM_006767.4(LZTR1):c.1972T>C (p.Tyr658His)
|
|
|
NM_006767.4(LZTR1):c.1972T>G (p.Tyr658Asp)
|
|
|
NM_006767.4(LZTR1):c.1974C>A (p.Tyr658Ter)
|
|
|
NM_006767.4(LZTR1):c.1974C>G (p.Tyr658Ter)
|
rs939793375
|
|
NM_006767.4(LZTR1):c.1974C>T (p.Tyr658=)
|
|
|
NM_006767.4(LZTR1):c.1975C>G (p.Leu659Val)
|
|
|
NM_006767.4(LZTR1):c.1975C>T (p.Leu659=)
|
|
|
NM_006767.4(LZTR1):c.1976T>G (p.Leu659Arg)
|
|
|
NM_006767.4(LZTR1):c.1978G>C (p.Glu660Gln)
|
|
|
NM_006767.4(LZTR1):c.1978G>T (p.Glu660Ter)
|
|
|
NM_006767.4(LZTR1):c.1979A>C (p.Glu660Ala)
|
|
|
NM_006767.4(LZTR1):c.1979A>T (p.Glu660Val)
|
|
|
NM_006767.4(LZTR1):c.1980G>A (p.Glu660=)
|
|
|
NM_006767.4(LZTR1):c.1981G>A (p.Gly661Arg)
|
|
|
NM_006767.4(LZTR1):c.1983A>G (p.Gly661=)
|
|
|
NM_006767.4(LZTR1):c.1984G>A (p.Ala662Thr)
|
|
|
NM_006767.4(LZTR1):c.1985C>A (p.Ala662Glu)
|
|
|
NM_006767.4(LZTR1):c.1986G>T (p.Ala662=)
|
rs779018174
|
|
NM_006767.4(LZTR1):c.1989C>A (p.Gly663=)
|
|
|
NM_006767.4(LZTR1):c.1989C>G (p.Gly663=)
|
|
|
NM_006767.4(LZTR1):c.1989C>T (p.Gly663=)
|
|
|
NM_006767.4(LZTR1):c.1992G>A (p.Ala664=)
|
|
|
NM_006767.4(LZTR1):c.1992G>C (p.Ala664=)
|
|
|
NM_006767.4(LZTR1):c.1993G>A (p.Glu665Lys)
|
|
|
NM_006767.4(LZTR1):c.1995A>C (p.Glu665Asp)
|
|
|
NM_006767.4(LZTR1):c.1998C>A (p.Phe666Leu)
|
|
|
NM_006767.4(LZTR1):c.1998C>G (p.Phe666Leu)
|
|
|
NM_006767.4(LZTR1):c.1999T>C (p.Cys667Arg)
|
rs2147969315
|
|
NM_006767.4(LZTR1):c.199C>G (p.Arg67Gly)
|
|
|
NM_006767.4(LZTR1):c.199del (p.Arg67fs)
|
|
|
NM_006767.4(LZTR1):c.19_21delinsCC (p.Thr7fs)
|
|
|
NM_006767.4(LZTR1):c.19del (p.Thr7fs)
|
|
|
NM_006767.4(LZTR1):c.1A>G (p.Met1Val)
|
rs1569152752
|
|
NM_006767.4(LZTR1):c.200+1G>T
|
|
|
NM_006767.4(LZTR1):c.200+1dup
|
|
|
NM_006767.4(LZTR1):c.200+2T>A
|
|
|
NM_006767.4(LZTR1):c.200+5G>A
|
|
|
NM_006767.4(LZTR1):c.2000G>A (p.Cys667Tyr)
|
|
|
NM_006767.4(LZTR1):c.2001_2002del (p.Cys667_Asp668delinsTer)
|
|
|
NM_006767.4(LZTR1):c.2003A>C (p.Asp668Ala)
|
|
|
NM_006767.4(LZTR1):c.2003A>G (p.Asp668Gly)
|
|
|
NM_006767.4(LZTR1):c.2004C>G (p.Asp668Glu)
|
|
|
NM_006767.4(LZTR1):c.2005A>G (p.Ile669Val)
|
|
|
NM_006767.4(LZTR1):c.2008A>C (p.Thr670Pro)
|
|
|
NM_006767.4(LZTR1):c.2009C>T (p.Thr670Ile)
|
|
|
NM_006767.4(LZTR1):c.200G>C (p.Arg67Pro)
|
|
|
NM_006767.4(LZTR1):c.201-1G>A
|
|
|
NM_006767.4(LZTR1):c.2011_2012del (p.Leu671fs)
|
|
|
NM_006767.4(LZTR1):c.2012T>C (p.Leu671Pro)
|
|
|
NM_006767.4(LZTR1):c.2012T>G (p.Leu671Arg)
|
|
|
NM_006767.4(LZTR1):c.2013_2014del (p.Leu672fs)
|
|
|
NM_006767.4(LZTR1):c.2023G>T (p.Gly675Trp)
|
|
|
NM_006767.4(LZTR1):c.2025G>A (p.Gly675=)
|
|
|
NM_006767.4(LZTR1):c.2025del (p.His676fs)
|
|
|
NM_006767.4(LZTR1):c.2028C>A (p.His676Gln)
|
|
|
NM_006767.4(LZTR1):c.2028C>T (p.His676=)
|
|
|
NM_006767.4(LZTR1):c.202C>T (p.Arg68Cys)
|
rs886041418
|
|
NM_006767.4(LZTR1):c.2030C>A (p.Pro677Gln)
|
|
|
NM_006767.4(LZTR1):c.2031A>C (p.Pro677=)
|
|
|
NM_006767.4(LZTR1):c.2031A>G (p.Pro677=)
|
|
|
NM_006767.4(LZTR1):c.2034G>A (p.Arg678=)
|
|
|
NM_006767.4(LZTR1):c.2035C>A (p.Pro679Thr)
|
|
|
NM_006767.4(LZTR1):c.2035C>T (p.Pro679Ser)
|
rs1434258545
|
|
NM_006767.4(LZTR1):c.2036C>T (p.Pro679Leu)
|
|
|
NM_006767.4(LZTR1):c.2037A>G (p.Pro679=)
|
|
|
NM_006767.4(LZTR1):c.2038G>C (p.Ala680Pro)
|
rs1924819890
|
|
NM_006767.4(LZTR1):c.2039C>G (p.Ala680Gly)
|
|
|
NM_006767.4(LZTR1):c.203G>A (p.Arg68His)
|
|
|
NM_006767.4(LZTR1):c.203G>T (p.Arg68Leu)
|
|
|
NM_006767.4(LZTR1):c.2042A>C (p.His681Pro)
|
|
|
NM_006767.4(LZTR1):c.2042A>G (p.His681Arg)
|
rs766706053
|
|
NM_006767.4(LZTR1):c.2043C>A (p.His681Gln)
|
|
|
NM_006767.4(LZTR1):c.2046G>C (p.Lys682Asn)
|
|
|
NM_006767.4(LZTR1):c.2049T>C (p.Ala683=)
|
|
|
NM_006767.4(LZTR1):c.204C>T (p.Arg68=)
|
|
|
NM_006767.4(LZTR1):c.2050A>G (p.Ile684Val)
|
|
|
NM_006767.4(LZTR1):c.2051T>C (p.Ile684Thr)
|
|
|
NM_006767.4(LZTR1):c.2051T>G (p.Ile684Ser)
|
|
|
NM_006767.4(LZTR1):c.2052C>G (p.Ile684Met)
|
|
|
NM_006767.4(LZTR1):c.2052C>T (p.Ile684=)
|
|
|
NM_006767.4(LZTR1):c.2054T>C (p.Leu685Pro)
|
|
|
NM_006767.4(LZTR1):c.2054T>G (p.Leu685Arg)
|
|
|
NM_006767.4(LZTR1):c.2055_2056insATG (p.Leu685_Ala686insMet)
|
|
|
NM_006767.4(LZTR1):c.2056G>A (p.Ala686Thr)
|
|
|
NM_006767.4(LZTR1):c.2057C>A (p.Ala686Asp)
|
|
|
NM_006767.4(LZTR1):c.2059G>C (p.Ala687Pro)
|
|
|
NM_006767.4(LZTR1):c.2059_2060insT (p.Ala687fs)
|
|
|
NM_006767.4(LZTR1):c.2060C>A (p.Ala687Asp)
|
|
|
NM_006767.4(LZTR1):c.2060C>T (p.Ala687Val)
|
rs2147969419
|
|
NM_006767.4(LZTR1):c.2063G>C (p.Arg688Pro)
|
|
|
NM_006767.4(LZTR1):c.2064C>A (p.Arg688=)
|
|
|
NM_006767.4(LZTR1):c.2064C>G (p.Arg688=)
|
|
|
NM_006767.4(LZTR1):c.2066C>G (p.Ser689Cys)
|
|
|
NM_006767.4(LZTR1):c.2066C>T (p.Ser689Phe)
|
rs1555928965
|
|
NM_006767.4(LZTR1):c.2068A>G (p.Ser690Gly)
|
rs2147969430
|
|
NM_006767.4(LZTR1):c.2068A>T (p.Ser690Cys)
|
|
|
NM_006767.4(LZTR1):c.2069+2T>G
|
|
|
NM_006767.4(LZTR1):c.2069+5G>C
|
|
|
NM_006767.4(LZTR1):c.2070-1G>A
|
|
|
NM_006767.4(LZTR1):c.2070-2A>G
|
rs774954465
|
|
NM_006767.4(LZTR1):c.2070-4G>T
|
|
|
NM_006767.4(LZTR1):c.2070C>T (p.Ser690=)
|
|
|
NM_006767.4(LZTR1):c.2072A>G (p.Tyr691Cys)
|
|
|
NM_006767.4(LZTR1):c.2073C>A (p.Tyr691Ter)
|
|
|
NM_006767.4(LZTR1):c.2073C>G (p.Tyr691Ter)
|
|
|
NM_006767.4(LZTR1):c.2074T>C (p.Phe692Leu)
|
rs534259664
|
|
NM_006767.4(LZTR1):c.2074T>G (p.Phe692Val)
|
|
|
NM_006767.4(LZTR1):c.2076T>A (p.Phe692Leu)
|
|
|
NM_006767.4(LZTR1):c.2076T>G (p.Phe692Leu)
|
|
|
NM_006767.4(LZTR1):c.207C>G (p.Ser69Arg)
|
|
|
NM_006767.4(LZTR1):c.2080G>A (p.Ala694Thr)
|
|
|
NM_006767.4(LZTR1):c.2082C>T (p.Ala694=)
|
|
|
NM_006767.4(LZTR1):c.2083A>G (p.Met695Val)
|
|
|
NM_006767.4(LZTR1):c.2083_2084del (p.Met695fs)
|
|
|
NM_006767.4(LZTR1):c.2084T>C (p.Met695Thr)
|
|
|
NM_006767.4(LZTR1):c.2085G>A (p.Met695Ile)
|
|
|
NM_006767.4(LZTR1):c.2087T>G (p.Phe696Cys)
|
|
|
NM_006767.4(LZTR1):c.2088C>G (p.Phe696Leu)
|
|
|
NM_006767.4(LZTR1):c.2089del (p.Arg697fs)
|
rs2147969560
|
|
NM_006767.4(LZTR1):c.2090G>A (p.Arg697Gln)
|
rs370638947
|
|
NM_006767.4(LZTR1):c.2090G>C (p.Arg697Pro)
|
|
|
NM_006767.4(LZTR1):c.2091G>C (p.Arg697=)
|
|
|
NM_006767.4(LZTR1):c.2092T>C (p.Ser698Pro)
|
|
|
NM_006767.4(LZTR1):c.2093C>T (p.Ser698Phe)
|
rs760064852
|
|
NM_006767.4(LZTR1):c.2096T>A (p.Phe699Tyr)
|
|
|
NM_006767.4(LZTR1):c.209A>C (p.Lys70Thr)
|
|
|
NM_006767.4(LZTR1):c.20C>G (p.Thr7Arg)
|
|
|
NM_006767.4(LZTR1):c.20del (p.Thr7fs)
|
|
|
NM_006767.4(LZTR1):c.2100G>A (p.Met700Ile)
|
|
|
NM_006767.4(LZTR1):c.2100G>T (p.Met700Ile)
|
|
|
NM_006767.4(LZTR1):c.2101C>A (p.Pro701Thr)
|
|
|
NM_006767.4(LZTR1):c.2102C>G (p.Pro701Arg)
|
|
|
NM_006767.4(LZTR1):c.2103C>A (p.Pro701=)
|
|
|
NM_006767.4(LZTR1):c.2103C>G (p.Pro701=)
|
rs139080986
|
|
NM_006767.4(LZTR1):c.2103C>T (p.Pro701=)
|
rs139080986
|
|
NM_006767.4(LZTR1):c.2104G>A (p.Glu702Lys)
|
|
|
NM_006767.4(LZTR1):c.2104G>C (p.Glu702Gln)
|
|
|
NM_006767.4(LZTR1):c.2104G>T (p.Glu702Ter)
|
|
|
NM_006767.4(LZTR1):c.2105A>G (p.Glu702Gly)
|
rs2147969594
|
|
NM_006767.4(LZTR1):c.2109T>C (p.Asp703=)
|
|
|
NM_006767.4(LZTR1):c.2116G>T (p.Val706Leu)
|
|
|
NM_006767.4(LZTR1):c.2119A>G (p.Asn707Asp)
|
|
|
NM_006767.4(LZTR1):c.211C>T (p.His71Tyr)
|
rs1438837277
|
|
NM_006767.4(LZTR1):c.2120A>C (p.Asn707Thr)
|
|
|
NM_006767.4(LZTR1):c.2122A>T (p.Ile708Phe)
|
|
|
NM_006767.4(LZTR1):c.2125T>A (p.Ser709Thr)
|
|
|
NM_006767.4(LZTR1):c.2127C>T (p.Ser709=)
|
|
|
NM_006767.4(LZTR1):c.212A>C (p.His71Pro)
|
|
|
NM_006767.4(LZTR1):c.2131G>C (p.Gly711Arg)
|
|
|
NM_006767.4(LZTR1):c.2133G>A (p.Gly711=)
|
|
|
NM_006767.4(LZTR1):c.2134G>C (p.Glu712Gln)
|
rs1409419929
|
|
NM_006767.4(LZTR1):c.2135A>G (p.Glu712Gly)
|
|
|
NM_006767.4(LZTR1):c.2137A>G (p.Met713Val)
|
rs1400606234
|
|
NM_006767.4(LZTR1):c.2137A>T (p.Met713Leu)
|
|
|
NM_006767.4(LZTR1):c.2144C>T (p.Pro715Leu)
|
|
|
NM_006767.4(LZTR1):c.2149A>G (p.Arg717Gly)
|
|
|
NM_006767.4(LZTR1):c.2149del (p.Arg717fs)
|
|
|
NM_006767.4(LZTR1):c.214dup (p.Thr72fs)
|
|
|
NM_006767.4(LZTR1):c.2150G>A (p.Arg717Lys)
|
|
|
NM_006767.4(LZTR1):c.2152C>T (p.Gln718Ter)
|
rs767482247
|
|
NM_006767.4(LZTR1):c.2153A>G (p.Gln718Arg)
|
|
|
NM_006767.4(LZTR1):c.2157C>T (p.Ala719=)
|
|
|
NM_006767.4(LZTR1):c.2158T>G (p.Phe720Val)
|
|
|
NM_006767.4(LZTR1):c.2159del (p.Phe720fs)
|
rs1924832357
|
|
NM_006767.4(LZTR1):c.215_216del (p.Thr72fs)
|
|
|
NM_006767.4(LZTR1):c.2161G>C (p.Glu721Gln)
|
|
|
NM_006767.4(LZTR1):c.2163G>A (p.Glu721=)
|
|
|
NM_006767.4(LZTR1):c.2166C>G (p.Ser722=)
|
|
|
NM_006767.4(LZTR1):c.2166del (p.Met723fs)
|
|
|
NM_006767.4(LZTR1):c.2170C>T (p.Leu724=)
|
|
|
NM_006767.4(LZTR1):c.2171T>C (p.Leu724Pro)
|
rs766095536
|
|
NM_006767.4(LZTR1):c.2172G>A (p.Leu724=)
|
rs754646711
|
|
NM_006767.4(LZTR1):c.2174dup (p.Tyr726fs)
|
|
|
NM_006767.4(LZTR1):c.2176T>G (p.Tyr726Asp)
|
|
|
NM_006767.4(LZTR1):c.2177A>G (p.Tyr726Cys)
|
|
|
NM_006767.4(LZTR1):c.2178C>A (p.Tyr726Ter)
|
rs1034395178
|
|
NM_006767.4(LZTR1):c.2178C>G (p.Tyr726Ter)
|
|
|
NM_006767.4(LZTR1):c.2178C>T (p.Tyr726=)
|
rs1034395178
|
|
NM_006767.4(LZTR1):c.2178_2179dup (p.Ile727fs)
|
|
|
NM_006767.4(LZTR1):c.2179A>C (p.Ile727Leu)
|
|
|
NM_006767.4(LZTR1):c.217G>A (p.Val73Met)
|
|
|
NM_006767.4(LZTR1):c.2180T>A (p.Ile727Asn)
|
|
|
NM_006767.4(LZTR1):c.2181C>A (p.Ile727=)
|
|
|
NM_006767.4(LZTR1):c.2181C>G (p.Ile727Met)
|
|
|
NM_006767.4(LZTR1):c.2182T>A (p.Tyr728Asn)
|
|
|
NM_006767.4(LZTR1):c.2182T>C (p.Tyr728His)
|
|
|
NM_006767.4(LZTR1):c.2182TAC[1] (p.Tyr729del)
|
rs1184475419
|
|
NM_006767.4(LZTR1):c.2183A>G (p.Tyr728Cys)
|
|
|
NM_006767.4(LZTR1):c.2183A>T (p.Tyr728Phe)
|
|
|
NM_006767.4(LZTR1):c.2186A>G (p.Tyr729Cys)
|
|
|
NM_006767.4(LZTR1):c.2186dup (p.Tyr729Ter)
|
|
|
NM_006767.4(LZTR1):c.2188G>T (p.Gly730Cys)
|
|
|
NM_006767.4(LZTR1):c.2190C>G (p.Gly730=)
|
|
|
NM_006767.4(LZTR1):c.2193G>A (p.Glu731=)
|
|
|
NM_006767.4(LZTR1):c.2193_2194delinsA (p.Val732fs)
|
|
|
NM_006767.4(LZTR1):c.2194G>A (p.Val732Ile)
|
|
|
NM_006767.4(LZTR1):c.21G>C (p.Thr7=)
|
|
|
NM_006767.4(LZTR1):c.21G>T (p.Thr7=)
|
|
|
NM_006767.4(LZTR1):c.2201T>G (p.Met734Arg)
|
|
|
NM_006767.4(LZTR1):c.2209G>A (p.Glu737Lys)
|
|
|
NM_006767.4(LZTR1):c.2210A>G (p.Glu737Gly)
|
|
|
NM_006767.4(LZTR1):c.2211G>A (p.Glu737=)
|
|
|
NM_006767.4(LZTR1):c.2214C>G (p.Asp738Glu)
|
|
|
NM_006767.4(LZTR1):c.2216C>A (p.Ser739Ter)
|
|
|
NM_006767.4(LZTR1):c.2216C>G (p.Ser739Trp)
|
|
|
NM_006767.4(LZTR1):c.2217G>C (p.Ser739=)
|
|
|
NM_006767.4(LZTR1):c.2219+1G>A
|
|
|
NM_006767.4(LZTR1):c.2219+2C>A
|
|
|
NM_006767.4(LZTR1):c.2219+3A>C
|
|
|
NM_006767.4(LZTR1):c.2219+3A>G
|
|
|
NM_006767.4(LZTR1):c.2219+4T>C
|
|
|
NM_006767.4(LZTR1):c.2219+5C>T
|
|
|
NM_006767.4(LZTR1):c.2220-4C>T
|
|
|
NM_006767.4(LZTR1):c.2220C>T (p.Leu740=)
|
|
|
NM_006767.4(LZTR1):c.2223C>A (p.Tyr741Ter)
|
|
|
NM_006767.4(LZTR1):c.2229del (p.Phe743fs)
|
rs1924863769
|
|
NM_006767.4(LZTR1):c.2235C>T (p.Ala745=)
|
|
|
NM_006767.4(LZTR1):c.2237C>T (p.Pro746Leu)
|
|
|
NM_006767.4(LZTR1):c.2238del (p.Tyr747fs)
|
|
|
NM_006767.4(LZTR1):c.2239T>C (p.Tyr747His)
|
|
|
NM_006767.4(LZTR1):c.2239_2242del (p.Tyr747fs)
|
|
|
NM_006767.4(LZTR1):c.2240A>G (p.Tyr747Cys)
|
|
|
NM_006767.4(LZTR1):c.2241C>A (p.Tyr747Ter)
|
|
|
NM_006767.4(LZTR1):c.2242T>G (p.Tyr748Asp)
|
|
|
NM_006767.4(LZTR1):c.2243A>C (p.Tyr748Ser)
|
rs749640575
|
|
NM_006767.4(LZTR1):c.2246A>C (p.Tyr749Ser)
|
|
|
NM_006767.4(LZTR1):c.2247C>A (p.Tyr749Ter)
|
rs779077819
|
|
NM_006767.4(LZTR1):c.2248G>A (p.Gly750Ser)
|
|
|
NM_006767.4(LZTR1):c.2250C>T (p.Gly750=)
|
|
|
NM_006767.4(LZTR1):c.2253C>A (p.Phe751Leu)
|
|
|
NM_006767.4(LZTR1):c.2255A>C (p.Tyr752Ser)
|
|
|
NM_006767.4(LZTR1):c.2255A>G (p.Tyr752Cys)
|
|
|
NM_006767.4(LZTR1):c.2256C>A (p.Tyr752Ter)
|
|
|
NM_006767.4(LZTR1):c.2257A>G (p.Asn753Asp)
|
|
|
NM_006767.4(LZTR1):c.2261A>C (p.Asn754Thr)
|
|
|
NM_006767.4(LZTR1):c.2264G>A (p.Arg755Gln)
|
rs762834512
|
|
NM_006767.4(LZTR1):c.2265G>C (p.Arg755=)
|
|
|
NM_006767.4(LZTR1):c.2267T>C (p.Leu756Pro)
|
|
|
NM_006767.4(LZTR1):c.2269C>T (p.Gln757Ter)
|
|
|
NM_006767.4(LZTR1):c.2271G>T (p.Gln757His)
|
|
|
NM_006767.4(LZTR1):c.2273C>G (p.Ala758Gly)
|
|
|
NM_006767.4(LZTR1):c.2273C>T (p.Ala758Val)
|
|
|
NM_006767.4(LZTR1):c.2274G>C (p.Ala758=)
|
|
|
NM_006767.4(LZTR1):c.2274G>T (p.Ala758=)
|
|
|
NM_006767.4(LZTR1):c.2275T>C (p.Tyr759His)
|
|
|
NM_006767.4(LZTR1):c.2276A>C (p.Tyr759Ser)
|
|
|
NM_006767.4(LZTR1):c.2277C>T (p.Tyr759=)
|
|
|
NM_006767.4(LZTR1):c.2279G>A (p.Cys760Tyr)
|
rs1181002142
|
|
NM_006767.4(LZTR1):c.2279G>T (p.Cys760Phe)
|
|
|
NM_006767.4(LZTR1):c.227A>G (p.Tyr76Cys)
|
|
|
NM_006767.4(LZTR1):c.2282A>G (p.Lys761Arg)
|
|
|
NM_006767.4(LZTR1):c.2283G>A (p.Lys761=)
|
|
|
NM_006767.4(LZTR1):c.2284C>T (p.Gln762Ter)
|
rs1924868328
|
|
NM_006767.4(LZTR1):c.2289C>T (p.Asn763=)
|
|
|
NM_006767.4(LZTR1):c.2290C>T (p.Leu764=)
|
|
|
NM_006767.4(LZTR1):c.2295G>C (p.Glu765Asp)
|
|
|
NM_006767.4(LZTR1):c.2298G>A (p.Met766Ile)
|
|
|
NM_006767.4(LZTR1):c.22G>A (p.Gly8Arg)
|
|
|
NM_006767.4(LZTR1):c.22G>C (p.Gly8Arg)
|
rs575193991
|
|
NM_006767.4(LZTR1):c.22G>T (p.Gly8Trp)
|
rs575193991
|
|
NM_006767.4(LZTR1):c.2302G>A (p.Val768Met)
|
|
|
NM_006767.4(LZTR1):c.2302del (p.Asn767_Val768insTer)
|
rs1924869044
|
|
NM_006767.4(LZTR1):c.2303T>G (p.Val768Gly)
|
|
|
NM_006767.4(LZTR1):c.2303del (p.Val768fs)
|
|
|
NM_006767.4(LZTR1):c.2303dup (p.Thr769fs)
|
rs1231204217
|
|
NM_006767.4(LZTR1):c.2304del (p.Thr769fs)
|
|
|
NM_006767.4(LZTR1):c.2308_2310del (p.Val770del)
|
|
|
NM_006767.4(LZTR1):c.2313G>A (p.Gln771=)
|
|
|
NM_006767.4(LZTR1):c.2314A>G (p.Asn772Asp)
|
|
|
NM_006767.4(LZTR1):c.2315A>C (p.Asn772Thr)
|
|
|
NM_006767.4(LZTR1):c.2316C>A (p.Asn772Lys)
|
rs140327903
|
|
NM_006767.4(LZTR1):c.2316C>G (p.Asn772Lys)
|
rs140327903
|
|
NM_006767.4(LZTR1):c.2316_2317delinsAA (p.Asn772_Val773delinsLysMet)
|
|
|
NM_006767.4(LZTR1):c.2317G>C (p.Val773Leu)
|
|
|
NM_006767.4(LZTR1):c.2318T>C (p.Val773Ala)
|
|
|
NM_006767.4(LZTR1):c.2319G>A (p.Val773=)
|
|
|
NM_006767.4(LZTR1):c.2320C>A (p.Leu774Met)
|
|
|
NM_006767.4(LZTR1):c.2323C>T (p.Gln775Ter)
|
|
|
NM_006767.4(LZTR1):c.2324A>G (p.Gln775Arg)
|
|
|
NM_006767.4(LZTR1):c.2325+1G>C
|
|
|
NM_006767.4(LZTR1):c.2325+2T>C
|
|
|
NM_006767.4(LZTR1):c.2325+3A>G
|
|
|
NM_006767.4(LZTR1):c.2325G>C (p.Gln775His)
|
|
|
NM_006767.4(LZTR1):c.2325G>T (p.Gln775His)
|
|
|
NM_006767.4(LZTR1):c.2326-1G>A
|
|
|
NM_006767.4(LZTR1):c.2326-3C>A
|
|
|
NM_006767.4(LZTR1):c.2326-4G>A
|
rs2147970497
|
|
NM_006767.4(LZTR1):c.2326-5T>C
|
|
|
NM_006767.4(LZTR1):c.2326-5T>G
|
|
|
NM_006767.4(LZTR1):c.2327T>C (p.Ile776Thr)
|
|
|
NM_006767.4(LZTR1):c.2329C>T (p.Leu777=)
|
|
|
NM_006767.4(LZTR1):c.2330T>C (p.Leu777Pro)
|
rs1274127264
|
|
NM_006767.4(LZTR1):c.2334G>A (p.Glu778=)
|
|
|
NM_006767.4(LZTR1):c.2339C>G (p.Ala780Gly)
|
rs759983066
|
|
NM_006767.4(LZTR1):c.2339C>T (p.Ala780Val)
|
|
|
NM_006767.4(LZTR1):c.233A>G (p.Asp78Gly)
|
|
|
NM_006767.4(LZTR1):c.2340T>C (p.Ala780=)
|
rs765714803
|
|
NM_006767.4(LZTR1):c.2341G>A (p.Asp781Asn)
|
|
|
NM_006767.4(LZTR1):c.2341G>T (p.Asp781Tyr)
|
|
|
NM_006767.4(LZTR1):c.2342A>T (p.Asp781Val)
|
|
|
NM_006767.4(LZTR1):c.2343C>A (p.Asp781Glu)
|
|
|
NM_006767.4(LZTR1):c.2343del (p.Asp781fs)
|
|
|
NM_006767.4(LZTR1):c.2347A>C (p.Thr783Pro)
|
|
|
NM_006767.4(LZTR1):c.2347dup (p.Thr783fs)
|
|
|
NM_006767.4(LZTR1):c.2348C>A (p.Thr783Lys)
|
|
|
NM_006767.4(LZTR1):c.2348_2351del (p.Thr783fs)
|
rs587777179
|
|
NM_006767.4(LZTR1):c.2349G>A (p.Thr783=)
|
|
|
NM_006767.4(LZTR1):c.234T>C (p.Asp78=)
|
|
|
NM_006767.4(LZTR1):c.2353_2360delinsTG (p.Ala785_Asp787delinsCys)
|
|
|
NM_006767.4(LZTR1):c.2354C>T (p.Ala785Val)
|
|
|
NM_006767.4(LZTR1):c.2356C>A (p.Leu786Met)
|
|
|
NM_006767.4(LZTR1):c.2356C>G (p.Leu786Val)
|
|
|
NM_006767.4(LZTR1):c.2357T>C (p.Leu786Pro)
|
rs1164174103
|
|
NM_006767.4(LZTR1):c.2357_2358insA (p.Asp787fs)
|
|
|
NM_006767.4(LZTR1):c.2358G>A (p.Leu786=)
|
|
|
NM_006767.4(LZTR1):c.2358G>T (p.Leu786=)
|
|
|
NM_006767.4(LZTR1):c.2359G>A (p.Asp787Asn)
|
|
|
NM_006767.4(LZTR1):c.2361C>T (p.Asp787=)
|
|
|
NM_006767.4(LZTR1):c.2362A>G (p.Met788Val)
|
|
|
NM_006767.4(LZTR1):c.2364G>T (p.Met788Ile)
|
|
|
NM_006767.4(LZTR1):c.2366A>G (p.Lys789Arg)
|
|
|
NM_006767.4(LZTR1):c.2366A>T (p.Lys789Met)
|
|
|
NM_006767.4(LZTR1):c.2368C>G (p.Arg790Gly)
|
|
|
NM_006767.4(LZTR1):c.2369G>A (p.Arg790Gln)
|
rs555586109
|
|
NM_006767.4(LZTR1):c.2369G>C (p.Arg790Pro)
|
|
|
NM_006767.4(LZTR1):c.2370G>A (p.Arg790=)
|
|
|
NM_006767.4(LZTR1):c.2372A>G (p.His791Arg)
|
|
|
NM_006767.4(LZTR1):c.2374T>C (p.Cys792Arg)
|
|
|
NM_006767.4(LZTR1):c.2375G>A (p.Cys792Tyr)
|
|
|
NM_006767.4(LZTR1):c.2376C>G (p.Cys792Trp)
|
|
|
NM_006767.4(LZTR1):c.2377C>G (p.Leu793Val)
|
|
|
NM_006767.4(LZTR1):c.2378T>C (p.Leu793Pro)
|
rs1057518130
|
|
NM_006767.4(LZTR1):c.2379G>A (p.Leu793=)
|
|
|
NM_006767.4(LZTR1):c.2380C>T (p.His794Tyr)
|
|
|
NM_006767.4(LZTR1):c.2381A>C (p.His794Pro)
|
rs2147970584
|
|
NM_006767.4(LZTR1):c.2382C>A (p.His794Gln)
|
|
|
NM_006767.4(LZTR1):c.2385C>G (p.Ile795Met)
|
|
|
NM_006767.4(LZTR1):c.2385C>T (p.Ile795=)
|
|
|
NM_006767.4(LZTR1):c.2386A>G (p.Ile796Val)
|
|
|
NM_006767.4(LZTR1):c.2388T>C (p.Ile796=)
|
|
|
NM_006767.4(LZTR1):c.2389G>A (p.Val797Met)
|
|
|
NM_006767.4(LZTR1):c.238dup (p.Ile80fs)
|
|
|
NM_006767.4(LZTR1):c.2391G>A (p.Val797=)
|
|
|
NM_006767.4(LZTR1):c.2392C>T (p.His798Tyr)
|
|
|
NM_006767.4(LZTR1):c.2393A>C (p.His798Pro)
|
|
|
NM_006767.4(LZTR1):c.2395C>T (p.Gln799Ter)
|
|
|
NM_006767.4(LZTR1):c.2398T>G (p.Phe800Val)
|
|
|
NM_006767.4(LZTR1):c.23G>A (p.Gly8Glu)
|
|
|
NM_006767.4(LZTR1):c.23G>T (p.Gly8Val)
|
|
|
NM_006767.4(LZTR1):c.2403C>G (p.Thr801=)
|
|
|
NM_006767.4(LZTR1):c.2403C>T (p.Thr801=)
|
|
|
NM_006767.4(LZTR1):c.2403dup (p.Lys802fs)
|
|
|
NM_006767.4(LZTR1):c.2405A>G (p.Lys802Arg)
|
|
|
NM_006767.4(LZTR1):c.2405del (p.Lys802fs)
|
rs1601723893
|
|
NM_006767.4(LZTR1):c.2406+1G>C
|
|
|
NM_006767.4(LZTR1):c.2406+2T>C
|
|
|
NM_006767.4(LZTR1):c.2406+5G>A
|
|
|
NM_006767.4(LZTR1):c.2406+60C>T
|
|
|
NM_006767.4(LZTR1):c.2406G>C (p.Lys802Asn)
|
rs1284200353
|
|
NM_006767.4(LZTR1):c.2407-1G>C
|
|
|
NM_006767.4(LZTR1):c.2407G>A (p.Val803Ile)
|
|
|
NM_006767.4(LZTR1):c.2407G>T (p.Val803Phe)
|
|
|
NM_006767.4(LZTR1):c.2409C>T (p.Val803=)
|
|
|
NM_006767.4(LZTR1):c.2409dup (p.Ser804fs)
|
|
|
NM_006767.4(LZTR1):c.2411C>G (p.Ser804Cys)
|
|
|
NM_006767.4(LZTR1):c.2413A>T (p.Lys805Ter)
|
|
|
NM_006767.4(LZTR1):c.2413_2414del (p.Lys805fs)
|
|
|
NM_006767.4(LZTR1):c.2414A>G (p.Lys805Arg)
|
|
|
NM_006767.4(LZTR1):c.2414del (p.Lys805fs)
|
|
|
NM_006767.4(LZTR1):c.2415G>T (p.Lys805Asn)
|
|
|
NM_006767.4(LZTR1):c.2419C>T (p.Pro807Ser)
|
|
|
NM_006767.4(LZTR1):c.2420C>T (p.Pro807Leu)
|
|
|
NM_006767.4(LZTR1):c.2421C>T (p.Pro807=)
|
|
|
NM_006767.4(LZTR1):c.2421del (p.Thr808fs)
|
rs1185411712
|
|
NM_006767.4(LZTR1):c.2422A>C (p.Thr808Pro)
|
|
|
NM_006767.4(LZTR1):c.2423C>A (p.Thr808Asn)
|
rs1041569569
|
|
NM_006767.4(LZTR1):c.2423C>G (p.Thr808Ser)
|
|
|
NM_006767.4(LZTR1):c.2423C>T (p.Thr808Ile)
|
|
|
NM_006767.4(LZTR1):c.2424C>T (p.Thr808=)
|
rs2147970929
|
|
NM_006767.4(LZTR1):c.2425C>G (p.Leu809Val)
|
|
|
NM_006767.4(LZTR1):c.2426T>C (p.Leu809Pro)
|
rs771094125
|
|
NM_006767.4(LZTR1):c.242A>G (p.Tyr81Cys)
|
|
|
NM_006767.4(LZTR1):c.242A>T (p.Tyr81Phe)
|
|
|
NM_006767.4(LZTR1):c.2433G>C (p.Ser811=)
|
|
|
NM_006767.4(LZTR1):c.2433del (p.Ser811_Leu812insTer)
|
|
|
NM_006767.4(LZTR1):c.2435T>C (p.Leu812Pro)
|
|
|
NM_006767.4(LZTR1):c.2435T>G (p.Leu812Arg)
|
|
|
NM_006767.4(LZTR1):c.2436G>A (p.Leu812=)
|
rs1000379425
|
|
NM_006767.4(LZTR1):c.2436G>C (p.Leu812=)
|
|
|
NM_006767.4(LZTR1):c.2437A>G (p.Ser813Gly)
|
rs1311281590
|
|
NM_006767.4(LZTR1):c.2438G>T (p.Ser813Ile)
|
|
|
NM_006767.4(LZTR1):c.2441A>C (p.Gln814Pro)
|
|
|
NM_006767.4(LZTR1):c.2441A>G (p.Gln814Arg)
|
|
|
NM_006767.4(LZTR1):c.2442G>C (p.Gln814His)
|
|
|
NM_006767.4(LZTR1):c.2447T>A (p.Leu816Gln)
|
|
|
NM_006767.4(LZTR1):c.2447T>C (p.Leu816Pro)
|
|
|
NM_006767.4(LZTR1):c.2448G>T (p.Leu816=)
|
|
|
NM_006767.4(LZTR1):c.2449C>T (p.Leu817=)
|
|
|
NM_006767.4(LZTR1):c.2453T>C (p.Leu818Pro)
|
|
|
NM_006767.4(LZTR1):c.2454G>A (p.Leu818=)
|
|
|
NM_006767.4(LZTR1):c.2455G>T (p.Asp819Tyr)
|
|
|
NM_006767.4(LZTR1):c.2456A>G (p.Asp819Gly)
|
|
|
NM_006767.4(LZTR1):c.2457C>T (p.Asp819=)
|
|
|
NM_006767.4(LZTR1):c.2458A>T (p.Ile820Phe)
|
|
|
NM_006767.4(LZTR1):c.2459T>A (p.Ile820Asn)
|
|
|
NM_006767.4(LZTR1):c.2459T>C (p.Ile820Thr)
|
|
|
NM_006767.4(LZTR1):c.2460C>G (p.Ile820Met)
|
|
|
NM_006767.4(LZTR1):c.2461A>G (p.Ile821Val)
|
|
|
NM_006767.4(LZTR1):c.2462_2463del (p.Ile821fs)
|
|
|
NM_006767.4(LZTR1):c.2463A>G (p.Ile821Met)
|
|
|
NM_006767.4(LZTR1):c.2463A>T (p.Ile821=)
|
|
|
NM_006767.4(LZTR1):c.2463_2464insC (p.Asp822fs)
|
|
|
NM_006767.4(LZTR1):c.2464G>A (p.Asp822Asn)
|
|
|
NM_006767.4(LZTR1):c.2465A>C (p.Asp822Ala)
|
|
|
NM_006767.4(LZTR1):c.2466C>A (p.Asp822Glu)
|
|
|
NM_006767.4(LZTR1):c.2467T>C (p.Ser823Pro)
|
|
|
NM_006767.4(LZTR1):c.2468C>T (p.Ser823Phe)
|
|
|
NM_006767.4(LZTR1):c.2469C>T (p.Ser823=)
|
|
|
NM_006767.4(LZTR1):c.246A>G (p.Val82=)
|
|
|
NM_006767.4(LZTR1):c.2470C>G (p.Leu824Val)
|
|
|
NM_006767.4(LZTR1):c.2472G>A (p.Leu824=)
|
|
|
NM_006767.4(LZTR1):c.2473G>A (p.Ala825Thr)
|
|
|
NM_006767.4(LZTR1):c.2477C>T (p.Ser826Phe)
|
|
|
NM_006767.4(LZTR1):c.2479C>G (p.His827Asp)
|
|
|
NM_006767.4(LZTR1):c.2479C>T (p.His827Tyr)
|
|
|
NM_006767.4(LZTR1):c.247T>C (p.Phe83Leu)
|
|
|
NM_006767.4(LZTR1):c.2480A>C (p.His827Pro)
|
|
|
NM_006767.4(LZTR1):c.2480A>G (p.His827Arg)
|
rs1301431226
|
|
NM_006767.4(LZTR1):c.2481C>A (p.His827Gln)
|
|
|
NM_006767.4(LZTR1):c.2481C>T (p.His827=)
|
|
|
NM_006767.4(LZTR1):c.2482A>G (p.Ile828Val)
|
|
|
NM_006767.4(LZTR1):c.2482_2483del (p.Ile828fs)
|
rs965447702
|
|
NM_006767.4(LZTR1):c.2484C>T (p.Ile828=)
|
rs1924901816
|
|
NM_006767.4(LZTR1):c.2486C>G (p.Ser829Ter)
|
|
|
NM_006767.4(LZTR1):c.248T>C (p.Phe83Ser)
|
|
|
NM_006767.4(LZTR1):c.248T>G (p.Phe83Cys)
|
|
|
NM_006767.4(LZTR1):c.2492A>C (p.Lys831Thr)
|
|
|
NM_006767.4(LZTR1):c.2492A>G (p.Lys831Arg)
|
|
|
NM_006767.4(LZTR1):c.2493G>A (p.Lys831=)
|
rs757595967
|
|
NM_006767.4(LZTR1):c.2496G>T (p.Gln832His)
|
|
|
NM_006767.4(LZTR1):c.2497T>C (p.Cys833Arg)
|
|
|
NM_006767.4(LZTR1):c.2499C>G (p.Cys833Trp)
|
|
|
NM_006767.4(LZTR1):c.24G>C (p.Gly8=)
|
|
|
NM_006767.4(LZTR1):c.2503G>T (p.Glu835Ter)
|
|
|
NM_006767.4(LZTR1):c.2505G>A (p.Glu835=)
|
rs1924904013
|
|
NM_006767.4(LZTR1):c.2507T>C (p.Leu836Pro)
|
|
|
NM_006767.4(LZTR1):c.250G>A (p.Gly84Ser)
|
|
|
NM_006767.4(LZTR1):c.2511C>A (p.Gly837=)
|
|
|
NM_006767.4(LZTR1):c.2513C>T (p.Ala838Val)
|
|
|
NM_006767.4(LZTR1):c.2515G>A (p.Asp839Asn)
|
|
|
NM_006767.4(LZTR1):c.2516A>C (p.Asp839Ala)
|
rs2147971116
|
|
NM_006767.4(LZTR1):c.2517C>G (p.Asp839Glu)
|
|
|
NM_006767.4(LZTR1):c.2517C>T (p.Asp839=)
|
|
|
NM_006767.4(LZTR1):c.2520C>A (p.Ile840=)
|
|
|
NM_006767.4(LZTR1):c.2520C>T (p.Ile840=)
|
|
|
NM_006767.4(LZTR1):c.254G>C (p.Gly85Ala)
|
|
|
NM_006767.4(LZTR1):c.254G>T (p.Gly85Val)
|
|
|
NM_006767.4(LZTR1):c.25G>T (p.Gly9Trp)
|
|
|
NM_006767.4(LZTR1):c.25_26delinsA (p.Gly9fs)
|
|
|
NM_006767.4(LZTR1):c.25_26delinsTT (p.Gly9Leu)
|
|
|
NM_006767.4(LZTR1):c.263+1del
|
rs1924258572
|
|
NM_006767.4(LZTR1):c.263+5G>A
|
rs771241129
|
|
NM_006767.4(LZTR1):c.263+5G>T
|
|
|
NM_006767.4(LZTR1):c.263G>A (p.Gly88Glu)
|
|
|
NM_006767.4(LZTR1):c.263G>T (p.Gly88Val)
|
rs1051725799
|
|
NM_006767.4(LZTR1):c.264-2A>C
|
|
|
NM_006767.4(LZTR1):c.264-41_264-17del
|
|
|
NM_006767.4(LZTR1):c.264-5T>C
|
|
|
NM_006767.4(LZTR1):c.264G>A (p.Gly88=)
|
|
|
NM_006767.4(LZTR1):c.268A>C (p.Thr90Pro)
|
|
|
NM_006767.4(LZTR1):c.268A>G (p.Thr90Ala)
|
|
|
NM_006767.4(LZTR1):c.26G>A (p.Gly9Glu)
|
|
|
NM_006767.4(LZTR1):c.26G>C (p.Gly9Ala)
|
rs756485244
|
|
NM_006767.4(LZTR1):c.26G>T (p.Gly9Val)
|
rs756485244
|
|
NM_006767.4(LZTR1):c.273G>C (p.Met91Ile)
|
|
|
NM_006767.4(LZTR1):c.274C>T (p.Leu92Phe)
|
|
|
NM_006767.4(LZTR1):c.275T>C (p.Leu92Pro)
|
|
|
NM_006767.4(LZTR1):c.279T>C (p.Asn93=)
|
|
|
NM_006767.4(LZTR1):c.27del (p.Gln10fs)
|
rs587777613
|
|
NM_006767.4(LZTR1):c.27dup (p.Gln10fs)
|
rs587777613
|
|
NM_006767.4(LZTR1):c.280G>A (p.Asp94Asn)
|
|
|
NM_006767.4(LZTR1):c.282C>T (p.Asp94=)
|
|
|
NM_006767.4(LZTR1):c.285C>T (p.Leu95=)
|
|
|
NM_006767.4(LZTR1):c.286C>T (p.Leu96=)
|
|
|
NM_006767.4(LZTR1):c.286del (p.Leu96fs)
|
|
|
NM_006767.4(LZTR1):c.288G>A (p.Leu96=)
|
|
|
NM_006767.4(LZTR1):c.288G>C (p.Leu96=)
|
|
|
NM_006767.4(LZTR1):c.289C>T (p.Arg97Trp)
|
|
|
NM_006767.4(LZTR1):c.290G>A (p.Arg97Gln)
|
rs1327974340
|
|
NM_006767.4(LZTR1):c.291G>A (p.Arg97=)
|
rs2147959802
|
|
NM_006767.4(LZTR1):c.294C>T (p.Phe98=)
|
|
|
NM_006767.4(LZTR1):c.295G>A (p.Asp99Asn)
|
|
|
NM_006767.4(LZTR1):c.298G>A (p.Val100Met)
|
|
|
NM_006767.4(LZTR1):c.29A>C (p.Gln10Pro)
|
|
|
NM_006767.4(LZTR1):c.301A>T (p.Lys101Ter)
|
|
|
NM_006767.4(LZTR1):c.309C>T (p.Cys103=)
|
|
|
NM_006767.4(LZTR1):c.311C>T (p.Ser104Phe)
|
rs1309568769
|
|
NM_006767.4(LZTR1):c.314G>A (p.Trp105Ter)
|
|
|
NM_006767.4(LZTR1):c.315G>A (p.Trp105Ter)
|
|
|
NM_006767.4(LZTR1):c.315G>T (p.Trp105Cys)
|
|
|
NM_006767.4(LZTR1):c.317G>A (p.Cys106Tyr)
|
|
|
NM_006767.4(LZTR1):c.317G>C (p.Cys106Ser)
|
|
|
NM_006767.4(LZTR1):c.319A>G (p.Arg107Gly)
|
rs1555927330
|
|
NM_006767.4(LZTR1):c.320+1G>A
|
rs943939913
|
|
NM_006767.4(LZTR1):c.320+1G>C
|
rs943939913
|
|
NM_006767.4(LZTR1):c.320+2T>G
|
|
|
NM_006767.4(LZTR1):c.320+5G>C
|
|
|
NM_006767.4(LZTR1):c.320+5del
|
rs1924365049
|
|
NM_006767.4(LZTR1):c.320G>A (p.Arg107Lys)
|
|
|
NM_006767.4(LZTR1):c.321-14_321-3del
|
rs137977968
|
|
NM_006767.4(LZTR1):c.321-1G>A
|
|
|
NM_006767.4(LZTR1):c.321-2del
|
|
|
NM_006767.4(LZTR1):c.324C>A (p.Ala108=)
|
|
|
NM_006767.4(LZTR1):c.325_328del (p.Phe109fs)
|
|
|
NM_006767.4(LZTR1):c.329C>T (p.Thr110Ile)
|
|
|
NM_006767.4(LZTR1):c.331A>C (p.Thr111Pro)
|
|
|
NM_006767.4(LZTR1):c.333T>G (p.Thr111=)
|
|
|
NM_006767.4(LZTR1):c.336G>A (p.Gly112=)
|
|
|
NM_006767.4(LZTR1):c.337A>G (p.Thr113Ala)
|
|
|
NM_006767.4(LZTR1):c.337A>T (p.Thr113Ser)
|
|
|
NM_006767.4(LZTR1):c.33C>T (p.Ile11=)
|
|
|
NM_006767.4(LZTR1):c.340C>T (p.Pro114Ser)
|
|
|
NM_006767.4(LZTR1):c.342A>C (p.Pro114=)
|
|
|
NM_006767.4(LZTR1):c.343C>T (p.Pro115Ser)
|
|
|
NM_006767.4(LZTR1):c.344C>G (p.Pro115Arg)
|
|
|
NM_006767.4(LZTR1):c.345G>A (p.Pro115=)
|
|
|
NM_006767.4(LZTR1):c.345G>C (p.Pro115=)
|
|
|
NM_006767.4(LZTR1):c.347C>A (p.Ala116Asp)
|
|
|
NM_006767.4(LZTR1):c.347C>T (p.Ala116Val)
|
|
|
NM_006767.4(LZTR1):c.348C>T (p.Ala116=)
|
rs756560607
|
|
NM_006767.4(LZTR1):c.349C>T (p.Pro117Ser)
|
|
|
NM_006767.4(LZTR1):c.350C>A (p.Pro117His)
|
|
|
NM_006767.4(LZTR1):c.350C>T (p.Pro117Leu)
|
|
|
NM_006767.4(LZTR1):c.352C>A (p.Arg118Ser)
|
|
|
NM_006767.4(LZTR1):c.352C>G (p.Arg118Gly)
|
|
|
NM_006767.4(LZTR1):c.352C>T (p.Arg118Cys)
|
rs749587390
|
|
NM_006767.4(LZTR1):c.352del (p.Arg118fs)
|
rs1486960809
|
|
NM_006767.4(LZTR1):c.352dup (p.Arg118fs)
|
rs1486960809
|
|
NM_006767.4(LZTR1):c.353G>C (p.Arg118Pro)
|
|
|
NM_006767.4(LZTR1):c.355T>C (p.Tyr119His)
|
|
|
NM_006767.4(LZTR1):c.356dup (p.Tyr119Ter)
|
|
|
NM_006767.4(LZTR1):c.357C>G (p.Tyr119Ter)
|
|
|
NM_006767.4(LZTR1):c.357C>T (p.Tyr119=)
|
|
|
NM_006767.4(LZTR1):c.35G>A (p.Gly12Glu)
|
|
|
NM_006767.4(LZTR1):c.361C>A (p.His121Asn)
|
|
|
NM_006767.4(LZTR1):c.362A>C (p.His121Pro)
|
|
|
NM_006767.4(LZTR1):c.363C>T (p.His121=)
|
|
|
NM_006767.4(LZTR1):c.365C>A (p.Ser122Ter)
|
rs587777177
|
|
NM_006767.4(LZTR1):c.365C>G (p.Ser122Trp)
|
|
|
NM_006767.4(LZTR1):c.366G>C (p.Ser122=)
|
rs367767120
|
|
NM_006767.4(LZTR1):c.368C>T (p.Ala123Val)
|
|
|
NM_006767.4(LZTR1):c.370G>A (p.Val124Ile)
|
|
|
NM_006767.4(LZTR1):c.370GTC[1] (p.Val125del)
|
rs755783378
|
|
NM_006767.4(LZTR1):c.372C>G (p.Val124=)
|
rs371891909
|
|
NM_006767.4(LZTR1):c.373G>C (p.Val125Leu)
|
|
|
NM_006767.4(LZTR1):c.374T>C (p.Val125Ala)
|
|
|
NM_006767.4(LZTR1):c.374_376del (p.Val125_Tyr126delinsAsp)
|
|
|
NM_006767.4(LZTR1):c.379G>T (p.Gly127Trp)
|
|
|
NM_006767.4(LZTR1):c.37G>A (p.Ala13Thr)
|
|
|
NM_006767.4(LZTR1):c.381G>C (p.Gly127=)
|
rs2147961498
|
|
NM_006767.4(LZTR1):c.381G>T (p.Gly127=)
|
|
|
NM_006767.4(LZTR1):c.382A>G (p.Ser128Gly)
|
|
|
NM_006767.4(LZTR1):c.382dup (p.Ser128fs)
|
rs2147961500
|
|
NM_006767.4(LZTR1):c.384C>G (p.Ser128Arg)
|
|
|
NM_006767.4(LZTR1):c.384C>T (p.Ser128=)
|
|
|
NM_006767.4(LZTR1):c.385A>G (p.Ser129Gly)
|
|
|
NM_006767.4(LZTR1):c.38C>T (p.Ala13Val)
|
|
|
NM_006767.4(LZTR1):c.390G>A (p.Met130Ile)
|
|
|
NM_006767.4(LZTR1):c.399T>C (p.Phe133=)
|
|
|
NM_006767.4(LZTR1):c.3G>A (p.Met1Ile)
|
|
|
NM_006767.4(LZTR1):c.400+13T>C
|
|
|
NM_006767.4(LZTR1):c.400+1G>A
|
|
|
NM_006767.4(LZTR1):c.400+1G>C
|
rs1555927561
|
|
NM_006767.4(LZTR1):c.400+4A>G
|
rs1924441714
|
|
NM_006767.4(LZTR1):c.400+5G>A
|
|
|
NM_006767.4(LZTR1):c.401-1G>C
|
rs747225246
|
|
NM_006767.4(LZTR1):c.401-2del
|
|
|
NM_006767.4(LZTR1):c.401-5C>G
|
|
|
NM_006767.4(LZTR1):c.401G>C (p.Gly134Ala)
|
|
|
NM_006767.4(LZTR1):c.403G>A (p.Gly135Ser)
|
|
|
NM_006767.4(LZTR1):c.404G>A (p.Gly135Asp)
|
|
|
NM_006767.4(LZTR1):c.404G>C (p.Gly135Ala)
|
|
|
NM_006767.4(LZTR1):c.404G>T (p.Gly135Val)
|
rs1425031926
|
|
NM_006767.4(LZTR1):c.406T>C (p.Tyr136His)
|
rs1601717299
|
|
NM_006767.4(LZTR1):c.408C>T (p.Tyr136=)
|
|
|
NM_006767.4(LZTR1):c.411T>G (p.Thr137=)
|
|
|
NM_006767.4(LZTR1):c.414G>A (p.Gly138=)
|
|
|
NM_006767.4(LZTR1):c.419T>C (p.Ile140Thr)
|
|
|
NM_006767.4(LZTR1):c.423T>G (p.Tyr141Ter)
|
|
|
NM_006767.4(LZTR1):c.426C>A (p.Ser142=)
|
|
|
NM_006767.4(LZTR1):c.426C>G (p.Ser142=)
|
|
|
NM_006767.4(LZTR1):c.427A>C (p.Asn143His)
|
|
|
NM_006767.4(LZTR1):c.428A>C (p.Asn143Thr)
|
|
|
NM_006767.4(LZTR1):c.429T>C (p.Asn143=)
|
|
|
NM_006767.4(LZTR1):c.42G>A (p.Ala14=)
|
rs1446469999
|
|
NM_006767.4(LZTR1):c.42G>C (p.Ala14=)
|
rs1446469999
|
|
NM_006767.4(LZTR1):c.42_44delinsCG (p.Leu16fs)
|
|
|
NM_006767.4(LZTR1):c.432T>C (p.Ser144=)
|
rs1290478304
|
|
NM_006767.4(LZTR1):c.436T>C (p.Leu146=)
|
|
|
NM_006767.4(LZTR1):c.436T>G (p.Leu146Val)
|
rs1555927611
|
|
NM_006767.4(LZTR1):c.439A>T (p.Lys147Ter)
|
|
|
NM_006767.4(LZTR1):c.440A>G (p.Lys147Arg)
|
|
|
NM_006767.4(LZTR1):c.441G>A (p.Lys147=)
|
rs2147961998
|
|
NM_006767.4(LZTR1):c.441G>T (p.Lys147Asn)
|
|
|
NM_006767.4(LZTR1):c.445A>C (p.Lys149Gln)
|
|
|
NM_006767.4(LZTR1):c.448A>C (p.Asn150His)
|
|
|
NM_006767.4(LZTR1):c.44C>G (p.Ala15Gly)
|
|
|
NM_006767.4(LZTR1):c.44C>T (p.Ala15Val)
|
rs2147956758
|
|
NM_006767.4(LZTR1):c.451G>A (p.Asp151Asn)
|
|
|
NM_006767.4(LZTR1):c.451G>T (p.Asp151Tyr)
|
|
|
NM_006767.4(LZTR1):c.454C>T (p.Leu152Phe)
|
|
|
NM_006767.4(LZTR1):c.454_458del (p.Asp151_Leu152insTer)
|
|
|
NM_006767.4(LZTR1):c.455T>C (p.Leu152Pro)
|
rs886041770
|
|
NM_006767.4(LZTR1):c.458_459del (p.Leu152_Phe153insTer)
|
rs1924461126
|
|
NM_006767.4(LZTR1):c.459T>G (p.Phe153Leu)
|
rs2147962027
|
|
NM_006767.4(LZTR1):c.45C>T (p.Ala15=)
|
|
|
NM_006767.4(LZTR1):c.460G>C (p.Glu154Gln)
|
|
|
NM_006767.4(LZTR1):c.462A>T (p.Glu154Asp)
|
rs1924461657
|
|
NM_006767.4(LZTR1):c.466_469del (p.Lys156fs)
|
|
|
NM_006767.4(LZTR1):c.467A>G (p.Lys156Arg)
|
|
|
NM_006767.4(LZTR1):c.469T>C (p.Phe157Leu)
|
|
|
NM_006767.4(LZTR1):c.46C>G (p.Leu16Val)
|
|
|
NM_006767.4(LZTR1):c.475A>C (p.Thr159Pro)
|
|
|
NM_006767.4(LZTR1):c.47T>G (p.Leu16Arg)
|
|
|
NM_006767.4(LZTR1):c.481C>T (p.Gln161Ter)
|
rs2147962049
|
|
NM_006767.4(LZTR1):c.482A>T (p.Gln161Leu)
|
|
|
NM_006767.4(LZTR1):c.484T>C (p.Trp162Arg)
|
|
|
NM_006767.4(LZTR1):c.484T>G (p.Trp162Gly)
|
|
|
NM_006767.4(LZTR1):c.485G>C (p.Trp162Ser)
|
|
|
NM_006767.4(LZTR1):c.48G>A (p.Leu16=)
|
|
|
NM_006767.4(LZTR1):c.48G>C (p.Leu16=)
|
|
|
NM_006767.4(LZTR1):c.48G>T (p.Leu16=)
|
|
|
NM_006767.4(LZTR1):c.490G>C (p.Glu164Gln)
|
|
|
NM_006767.4(LZTR1):c.492G>A (p.Glu164=)
|
|
|
NM_006767.4(LZTR1):c.495G>C (p.Trp165Cys)
|
|
|
NM_006767.4(LZTR1):c.496A>T (p.Lys166Ter)
|
|
|
NM_006767.4(LZTR1):c.499A>C (p.Ile167Leu)
|
|
|
NM_006767.4(LZTR1):c.502G>A (p.Glu168Lys)
|
|
|
NM_006767.4(LZTR1):c.505G>A (p.Gly169Arg)
|
|
|
NM_006767.4(LZTR1):c.507A>G (p.Gly169=)
|
rs1478935522
|
|
NM_006767.4(LZTR1):c.509+1G>A
|
|
|
NM_006767.4(LZTR1):c.509+3G>C
|
|
|
NM_006767.4(LZTR1):c.509+4A>G
|
|
|
NM_006767.4(LZTR1):c.509G>T (p.Arg170Leu)
|
rs781431741
|
|
NM_006767.4(LZTR1):c.50C>T (p.Ala17Val)
|
|
|
NM_006767.4(LZTR1):c.50_51del (p.Ala17fs)
|
|
|
NM_006767.4(LZTR1):c.510-4C>G
|
rs1413440011
|
|
NM_006767.4(LZTR1):c.510-4C>T
|
|
|
NM_006767.4(LZTR1):c.511T>C (p.Leu171=)
|
|
|
NM_006767.4(LZTR1):c.512T>G (p.Leu171Trp)
|
|
|
NM_006767.4(LZTR1):c.513G>T (p.Leu171Phe)
|
|
|
NM_006767.4(LZTR1):c.515C>G (p.Pro172Arg)
|
|
|
NM_006767.4(LZTR1):c.515C>T (p.Pro172Leu)
|
|
|
NM_006767.4(LZTR1):c.516A>G (p.Pro172=)
|
|
|
NM_006767.4(LZTR1):c.519C>G (p.Val173=)
|
|
|
NM_006767.4(LZTR1):c.519del (p.Ala174fs)
|
|
|
NM_006767.4(LZTR1):c.520G>A (p.Ala174Thr)
|
|
|
NM_006767.4(LZTR1):c.523A>G (p.Arg175Gly)
|
|
|
NM_006767.4(LZTR1):c.524G>C (p.Arg175Thr)
|
|
|
NM_006767.4(LZTR1):c.525G>A (p.Arg175=)
|
|
|
NM_006767.4(LZTR1):c.527C>T (p.Ser176Leu)
|
rs2147962674
|
|
NM_006767.4(LZTR1):c.52G>T (p.Gly18Cys)
|
|
|
NM_006767.4(LZTR1):c.533A>C (p.His178Pro)
|
|
|
NM_006767.4(LZTR1):c.534T>A (p.His178Gln)
|
|
|
NM_006767.4(LZTR1):c.534T>C (p.His178=)
|
|
|
NM_006767.4(LZTR1):c.537G>A (p.Gly179=)
|
|
|
NM_006767.4(LZTR1):c.537G>T (p.Gly179=)
|
|
|
NM_006767.4(LZTR1):c.53G>A (p.Gly18Asp)
|
|
|
NM_006767.4(LZTR1):c.541A>C (p.Thr181Pro)
|
|
|
NM_006767.4(LZTR1):c.542C>A (p.Thr181Lys)
|
|
|
NM_006767.4(LZTR1):c.544G>A (p.Val182Met)
|
|
|
NM_006767.4(LZTR1):c.545T>G (p.Val182Gly)
|
|
|
NM_006767.4(LZTR1):c.546G>A (p.Val182=)
|
|
|
NM_006767.4(LZTR1):c.546G>T (p.Val182=)
|
|
|
NM_006767.4(LZTR1):c.549C>G (p.Tyr183Ter)
|
|
|
NM_006767.4(LZTR1):c.549_550del (p.Tyr183_Ser184delinsTer)
|
|
|
NM_006767.4(LZTR1):c.54C>A (p.Gly18=)
|
|
|
NM_006767.4(LZTR1):c.552T>C (p.Ser184=)
|
|
|
NM_006767.4(LZTR1):c.555C>T (p.Asp185=)
|
|
|
NM_006767.4(LZTR1):c.557A>T (p.Lys186Met)
|
|
|
NM_006767.4(LZTR1):c.55G>A (p.Gly19Ser)
|
|
|
NM_006767.4(LZTR1):c.561G>A (p.Leu187=)
|
|
|
NM_006767.4(LZTR1):c.562T>C (p.Trp188Arg)
|
|
|
NM_006767.4(LZTR1):c.565A>G (p.Ile189Val)
|
|
|
NM_006767.4(LZTR1):c.565A>T (p.Ile189Phe)
|
|
|
NM_006767.4(LZTR1):c.569T>C (p.Phe190Ser)
|
|
|
NM_006767.4(LZTR1):c.570T>C (p.Phe190=)
|
|
|
NM_006767.4(LZTR1):c.570del (p.Phe190fs)
|
|
|
NM_006767.4(LZTR1):c.574G>A (p.Gly192Ser)
|
|
|
NM_006767.4(LZTR1):c.575G>T (p.Gly192Val)
|
|
|
NM_006767.4(LZTR1):c.576C>A (p.Gly192=)
|
|
|
NM_006767.4(LZTR1):c.577T>C (p.Tyr193His)
|
rs2147962725
|
|
NM_006767.4(LZTR1):c.579T>C (p.Tyr193=)
|
|
|
NM_006767.4(LZTR1):c.583G>A (p.Gly195Ser)
|
|
|
NM_006767.4(LZTR1):c.584G>T (p.Gly195Val)
|
|
|
NM_006767.4(LZTR1):c.586A>C (p.Asn196His)
|
|
|
NM_006767.4(LZTR1):c.58G>A (p.Ala20Thr)
|
rs1924227635
|
|
NM_006767.4(LZTR1):c.591C>T (p.Ala197=)
|
|
|
NM_006767.4(LZTR1):c.593+4G>T
|
|
|
NM_006767.4(LZTR1):c.593+5G>A
|
|
|
NM_006767.4(LZTR1):c.593+5del
|
|
|
NM_006767.4(LZTR1):c.594-1G>A
|
|
|
NM_006767.4(LZTR1):c.594-1G>C
|
|
|
NM_006767.4(LZTR1):c.594-3C>G
|
|
|
NM_006767.4(LZTR1):c.595T>C (p.Leu199=)
|
|
|
NM_006767.4(LZTR1):c.5C>G (p.Ala2Gly)
|
|
|
NM_006767.4(LZTR1):c.5_11dup (p.Gly5fs)
|
|
|
NM_006767.4(LZTR1):c.603C>T (p.Asp201=)
|
|
|
NM_006767.4(LZTR1):c.604_605del (p.Met202fs)
|
|
|
NM_006767.4(LZTR1):c.606del (p.Met202fs)
|
|
|
NM_006767.4(LZTR1):c.607T>C (p.Trp203Arg)
|
rs1924522828
|
|
NM_006767.4(LZTR1):c.607del (p.Trp203fs)
|
|
|
NM_006767.4(LZTR1):c.60G>T (p.Ala20=)
|
|
|
NM_006767.4(LZTR1):c.610A>G (p.Thr204Ala)
|
|
|
NM_006767.4(LZTR1):c.610del (p.Thr204fs)
|
|
|
NM_006767.4(LZTR1):c.611C>T (p.Thr204Ile)
|
|
|
NM_006767.4(LZTR1):c.615T>C (p.Ile205=)
|
|
|
NM_006767.4(LZTR1):c.616G>C (p.Gly206Arg)
|
|
|
NM_006767.4(LZTR1):c.618C>T (p.Gly206=)
|
|
|
NM_006767.4(LZTR1):c.619C>A (p.Leu207Ile)
|
|
|
NM_006767.4(LZTR1):c.622C>T (p.Gln208Ter)
|
|
|
NM_006767.4(LZTR1):c.627C>T (p.Asp209=)
|
|
|
NM_006767.4(LZTR1):c.628C>A (p.Arg210=)
|
rs150419186
|
|
NM_006767.4(LZTR1):c.628C>G (p.Arg210Gly)
|
|
|
NM_006767.4(LZTR1):c.628dup (p.Arg210fs)
|
rs1457594219
|
|
NM_006767.4(LZTR1):c.629G>A (p.Arg210Gln)
|
|
|
NM_006767.4(LZTR1):c.62G>A (p.Arg21Gln)
|
|
|
NM_006767.4(LZTR1):c.62G>C (p.Arg21Pro)
|
rs1469540056
|
|
NM_006767.4(LZTR1):c.633G>A (p.Glu211=)
|
|
|
NM_006767.4(LZTR1):c.634C>G (p.Leu212Val)
|
|
|
NM_006767.4(LZTR1):c.636C>A (p.Leu212=)
|
|
|
NM_006767.4(LZTR1):c.63G>T (p.Arg21=)
|
|
|
NM_006767.4(LZTR1):c.640T>C (p.Cys214Arg)
|
|
|
NM_006767.4(LZTR1):c.641G>C (p.Cys214Ser)
|
|
|
NM_006767.4(LZTR1):c.642C>T (p.Cys214=)
|
|
|
NM_006767.4(LZTR1):c.643T>C (p.Trp215Arg)
|
|
|
NM_006767.4(LZTR1):c.645G>A (p.Trp215Ter)
|
|
|
NM_006767.4(LZTR1):c.645G>C (p.Trp215Cys)
|
|
|
NM_006767.4(LZTR1):c.646G>C (p.Glu216Gln)
|
|
|
NM_006767.4(LZTR1):c.649G>C (p.Glu217Gln)
|
|
|
NM_006767.4(LZTR1):c.649G>T (p.Glu217Ter)
|
rs1302923931
|
|
NM_006767.4(LZTR1):c.650A>T (p.Glu217Val)
|
|
|
NM_006767.4(LZTR1):c.651+1G>A
|
|
|
NM_006767.4(LZTR1):c.651G>A (p.Glu217=)
|
|
|
NM_006767.4(LZTR1):c.652-116A>G
|
|
|
NM_006767.4(LZTR1):c.652-1G>A
|
|
|
NM_006767.4(LZTR1):c.652-2A>C
|
|
|
NM_006767.4(LZTR1):c.652G>A (p.Val218Met)
|
|
|
NM_006767.4(LZTR1):c.655G>A (p.Ala219Thr)
|
|
|
NM_006767.4(LZTR1):c.655G>T (p.Ala219Ser)
|
|
|
NM_006767.4(LZTR1):c.656C>T (p.Ala219Val)
|
|
|
NM_006767.4(LZTR1):c.65C>T (p.Ser22Phe)
|
|
|
NM_006767.4(LZTR1):c.660G>A (p.Gln220=)
|
|
|
NM_006767.4(LZTR1):c.661A>G (p.Ser221Gly)
|
|
|
NM_006767.4(LZTR1):c.662G>A (p.Ser221Asn)
|
|
|
NM_006767.4(LZTR1):c.669G>A (p.Glu223=)
|
|
|
NM_006767.4(LZTR1):c.669G>C (p.Glu223Asp)
|
|
|
NM_006767.4(LZTR1):c.671del (p.Ile224fs)
|
|
|
NM_006767.4(LZTR1):c.672C>A (p.Ile224=)
|
|
|
NM_006767.4(LZTR1):c.672C>T (p.Ile224=)
|
|
|
NM_006767.4(LZTR1):c.672_673delinsA (p.Pro226fs)
|
|
|
NM_006767.4(LZTR1):c.673C>A (p.Pro225Thr)
|
|
|
NM_006767.4(LZTR1):c.673C>T (p.Pro225Ser)
|
|
|
NM_006767.4(LZTR1):c.676_696dup (p.Pro232_Val233insProSerCysCysAsnPhePro)
|
|
|
NM_006767.4(LZTR1):c.677C>A (p.Pro226Gln)
|
rs2147964011
|
|
NM_006767.4(LZTR1):c.677C>G (p.Pro226Arg)
|
|
|
NM_006767.4(LZTR1):c.677del (p.Pro226fs)
|
|
|
NM_006767.4(LZTR1):c.677dup (p.Ser227fs)
|
rs777054968
|
|
NM_006767.4(LZTR1):c.678A>C (p.Pro226=)
|
|
|
NM_006767.4(LZTR1):c.678A>G (p.Pro226=)
|
rs200001328
|
|
NM_006767.4(LZTR1):c.679T>A (p.Ser227Thr)
|
|
|
NM_006767.4(LZTR1):c.680C>G (p.Ser227Cys)
|
|
|
NM_006767.4(LZTR1):c.682del (p.Cys228fs)
|
|
|
NM_006767.4(LZTR1):c.684C>A (p.Cys228Ter)
|
|
|
NM_006767.4(LZTR1):c.684C>T (p.Cys228=)
|
rs1343634751
|
|
NM_006767.4(LZTR1):c.686G>A (p.Cys229Tyr)
|
|
|
NM_006767.4(LZTR1):c.690C>T (p.Asn230=)
|
|
|
NM_006767.4(LZTR1):c.691T>A (p.Phe231Ile)
|
|
|
NM_006767.4(LZTR1):c.693C>T (p.Phe231=)
|
|
|
NM_006767.4(LZTR1):c.695C>T (p.Pro232Leu)
|
|
|
NM_006767.4(LZTR1):c.696del (p.Val233fs)
|
|
|
NM_006767.4(LZTR1):c.697G>A (p.Val233Met)
|
|
|
NM_006767.4(LZTR1):c.698T>G (p.Val233Gly)
|
|
|
NM_006767.4(LZTR1):c.700G>A (p.Ala234Thr)
|
rs2147964039
|
|
NM_006767.4(LZTR1):c.702T>G (p.Ala234=)
|
|
|
NM_006767.4(LZTR1):c.705G>T (p.Val235=)
|
|
|
NM_006767.4(LZTR1):c.709C>A (p.Arg237=)
|
rs146197956
|
|
NM_006767.4(LZTR1):c.709C>T (p.Arg237Trp)
|
rs146197956
|
|
NM_006767.4(LZTR1):c.70G>A (p.Val24Ile)
|
|
|
NM_006767.4(LZTR1):c.710G>C (p.Arg237Pro)
|
|
|
NM_006767.4(LZTR1):c.711G>A (p.Arg237=)
|
|
|
NM_006767.4(LZTR1):c.712G>A (p.Asp238Asn)
|
|
|
NM_006767.4(LZTR1):c.712G>C (p.Asp238His)
|
|
|
NM_006767.4(LZTR1):c.712G>T (p.Asp238Tyr)
|
|
|
NM_006767.4(LZTR1):c.713A>T (p.Asp238Val)
|
|
|
NM_006767.4(LZTR1):c.718A>T (p.Met240Leu)
|
|
|
NM_006767.4(LZTR1):c.718del (p.Met240fs)
|
|
|
NM_006767.4(LZTR1):c.719T>C (p.Met240Thr)
|
|
|
NM_006767.4(LZTR1):c.720G>A (p.Met240Ile)
|
|
|
NM_006767.4(LZTR1):c.721T>G (p.Phe241Val)
|
|
|
NM_006767.4(LZTR1):c.722_725del (p.Phe241fs)
|
|
|
NM_006767.4(LZTR1):c.726A>G (p.Val242=)
|
rs1924567252
|
|
NM_006767.4(LZTR1):c.727T>G (p.Phe243Val)
|
|
|
NM_006767.4(LZTR1):c.732T>C (p.Ser244=)
|
|
|
NM_006767.4(LZTR1):c.735G>A (p.Gly245=)
|
|
|
NM_006767.4(LZTR1):c.735dup (p.Gln246fs)
|
|
|
NM_006767.4(LZTR1):c.739A>C (p.Ser247Arg)
|
|
|
NM_006767.4(LZTR1):c.741C>A (p.Ser247Arg)
|
|
|
NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg)
|
rs869320686
|
|
NM_006767.4(LZTR1):c.747C>A (p.Ala249=)
|
|
|
NM_006767.4(LZTR1):c.747C>T (p.Ala249=)
|
|
|
NM_006767.4(LZTR1):c.751del (p.Lys250_Ile251insTer)
|
|
|
NM_006767.4(LZTR1):c.75C>T (p.Ala25=)
|
rs1924228731
|
|
NM_006767.4(LZTR1):c.761A>G (p.Asn254Ser)
|
|
|
NM_006767.4(LZTR1):c.762C>T (p.Asn254=)
|
|
|
NM_006767.4(LZTR1):c.763C>G (p.Leu255Val)
|
|
|
NM_006767.4(LZTR1):c.763C>T (p.Leu255Phe)
|
|
|
NM_006767.4(LZTR1):c.765C>A (p.Leu255=)
|
|
|
NM_006767.4(LZTR1):c.765C>G (p.Leu255=)
|
|
|
NM_006767.4(LZTR1):c.768C>T (p.Phe256=)
|
|
|
NM_006767.4(LZTR1):c.769C>T (p.Gln257Ter)
|
|
|
NM_006767.4(LZTR1):c.771G>A (p.Gln257=)
|
|
|
NM_006767.4(LZTR1):c.773T>C (p.Phe258Ser)
|
|
|
NM_006767.4(LZTR1):c.773T>G (p.Phe258Cys)
|
|
|
NM_006767.4(LZTR1):c.774T>G (p.Phe258Leu)
|
|
|
NM_006767.4(LZTR1):c.774del (p.Phe258fs)
|
rs780267761
|
|
NM_006767.4(LZTR1):c.775G>C (p.Glu259Gln)
|
|
|
NM_006767.4(LZTR1):c.776A>T (p.Glu259Val)
|
|
|
NM_006767.4(LZTR1):c.777A>C (p.Glu259Asp)
|
rs2147964122
|
|
NM_006767.4(LZTR1):c.777A>G (p.Glu259=)
|
|
|
NM_006767.4(LZTR1):c.77del (p.Pro26fs)
|
|
|
NM_006767.4(LZTR1):c.780C>A (p.Phe260Leu)
|
|
|
NM_006767.4(LZTR1):c.780C>G (p.Phe260Leu)
|
|
|
NM_006767.4(LZTR1):c.784G>C (p.Asp262His)
|
|
|
NM_006767.4(LZTR1):c.784G>T (p.Asp262Tyr)
|
|
|
NM_006767.4(LZTR1):c.785A>G (p.Asp262Gly)
|
rs776759823
|
|
NM_006767.4(LZTR1):c.787_788del (p.Lys263fs)
|
|
|
NM_006767.4(LZTR1):c.790A>G (p.Thr264Ala)
|
|
|
NM_006767.4(LZTR1):c.791+1G>A
|
rs148031742
|
|
NM_006767.4(LZTR1):c.791+1G>T
|
|
|
NM_006767.4(LZTR1):c.791+2T>C
|
|
|
NM_006767.4(LZTR1):c.791+2dup
|
|
|
NM_006767.4(LZTR1):c.791+3G>A
|
|
|
NM_006767.4(LZTR1):c.791+5G>A
|
|
|
NM_006767.4(LZTR1):c.792-1G>A
|
|
|
NM_006767.4(LZTR1):c.792-2A>G
|
|
|
NM_006767.4(LZTR1):c.792-3C>G
|
|
|
NM_006767.4(LZTR1):c.792-4C>G
|
|
|
NM_006767.4(LZTR1):c.792G>C (p.Thr264=)
|
|
|
NM_006767.4(LZTR1):c.794G>A (p.Trp265Ter)
|
|
|
NM_006767.4(LZTR1):c.799C>T (p.Arg267Cys)
|
|
|
NM_006767.4(LZTR1):c.800G>A (p.Arg267His)
|
rs754364555
|
|
NM_006767.4(LZTR1):c.801C>T (p.Arg267=)
|
|
|
NM_006767.4(LZTR1):c.805C>G (p.Pro269Ala)
|
|
|
NM_006767.4(LZTR1):c.806C>T (p.Pro269Leu)
|
|
|
NM_006767.4(LZTR1):c.807A>C (p.Pro269=)
|
|
|
NM_006767.4(LZTR1):c.808A>G (p.Thr270Ala)
|
|
|
NM_006767.4(LZTR1):c.809C>T (p.Thr270Ile)
|
|
|
NM_006767.4(LZTR1):c.80G>A (p.Ser27Asn)
|
|
|
NM_006767.4(LZTR1):c.80G>C (p.Ser27Thr)
|
rs776383010
|
|
NM_006767.4(LZTR1):c.80G>T (p.Ser27Ile)
|
|
|
NM_006767.4(LZTR1):c.810T>C (p.Thr270=)
|
|
|
NM_006767.4(LZTR1):c.810T>G (p.Thr270=)
|
|
|
NM_006767.4(LZTR1):c.813A>C (p.Glu271Asp)
|
|
|
NM_006767.4(LZTR1):c.819G>A (p.Leu273=)
|
|
|
NM_006767.4(LZTR1):c.822C>T (p.Leu274=)
|
rs1924609774
|
|
NM_006767.4(LZTR1):c.825G>C (p.Arg275=)
|
|
|
NM_006767.4(LZTR1):c.830C>A (p.Ser277Tyr)
|
|
|
NM_006767.4(LZTR1):c.831C>T (p.Ser277=)
|
|
|
NM_006767.4(LZTR1):c.834A>G (p.Pro278=)
|
|
|
NM_006767.4(LZTR1):c.834_840dup (p.Pro281fs)
|
|
|
NM_006767.4(LZTR1):c.835C>A (p.Pro279Thr)
|
|
|
NM_006767.4(LZTR1):c.835C>T (p.Pro279Ser)
|
|
|
NM_006767.4(LZTR1):c.837A>G (p.Pro279=)
|
|
|
NM_006767.4(LZTR1):c.840C>T (p.Pro280=)
|
|
|
NM_006767.4(LZTR1):c.842C>A (p.Pro281Gln)
|
|
|
NM_006767.4(LZTR1):c.842C>G (p.Pro281Arg)
|
|
|
NM_006767.4(LZTR1):c.843G>T (p.Pro281=)
|
rs779901332
|
|
NM_006767.4(LZTR1):c.844C>T (p.Gln282Ter)
|
|
|
NM_006767.4(LZTR1):c.847C>A (p.Arg283=)
|
|
|
NM_006767.4(LZTR1):c.847C>T (p.Arg283Trp)
|
rs1346699262
|
|
NM_006767.4(LZTR1):c.848G>T (p.Arg283Leu)
|
|
|
NM_006767.4(LZTR1):c.849G>A (p.Arg283=)
|
|
|
NM_006767.4(LZTR1):c.851G>A (p.Arg284His)
|
rs768361273
|
|
NM_006767.4(LZTR1):c.852C>T (p.Arg284=)
|
|
|
NM_006767.4(LZTR1):c.853T>C (p.Tyr285His)
|
|
|
NM_006767.4(LZTR1):c.854A>C (p.Tyr285Ser)
|
|
|
NM_006767.4(LZTR1):c.858G>A (p.Gly286=)
|
|
|
NM_006767.4(LZTR1):c.858G>T (p.Gly286=)
|
|
|
NM_006767.4(LZTR1):c.859C>A (p.His287Asn)
|
|
|
NM_006767.4(LZTR1):c.861T>G (p.His287Gln)
|
|
|
NM_006767.4(LZTR1):c.865A>C (p.Met289Leu)
|
rs2147964929
|
|
NM_006767.4(LZTR1):c.865A>G (p.Met289Val)
|
rs2147964929
|
|
NM_006767.4(LZTR1):c.866T>C (p.Met289Thr)
|
|
|
NM_006767.4(LZTR1):c.866T>G (p.Met289Arg)
|
|
|
NM_006767.4(LZTR1):c.867G>A (p.Met289Ile)
|
|
|
NM_006767.4(LZTR1):c.877G>A (p.Asp293Asn)
|
|
|
NM_006767.4(LZTR1):c.879C>T (p.Asp293=)
|
|
|
NM_006767.4(LZTR1):c.87C>T (p.Asp29=)
|
|
|
NM_006767.4(LZTR1):c.880C>A (p.Arg294Ser)
|
|
|
NM_006767.4(LZTR1):c.880C>T (p.Arg294Cys)
|
rs771655758
|
|
NM_006767.4(LZTR1):c.881G>A (p.Arg294His)
|
|
|
NM_006767.4(LZTR1):c.881G>C (p.Arg294Pro)
|
|
|
NM_006767.4(LZTR1):c.882C>T (p.Arg294=)
|
|
|
NM_006767.4(LZTR1):c.885C>A (p.His295Gln)
|
|
|
NM_006767.4(LZTR1):c.885C>T (p.His295=)
|
|
|
NM_006767.4(LZTR1):c.886C>T (p.Leu296Phe)
|
|
|
NM_006767.4(LZTR1):c.890A>C (p.Tyr297Ser)
|
|
|
NM_006767.4(LZTR1):c.890_891del (p.Tyr297fs)
|
rs767445373
|
|
NM_006767.4(LZTR1):c.891T>A (p.Tyr297Ter)
|
|
|
NM_006767.4(LZTR1):c.891T>C (p.Tyr297=)
|
|
|
NM_006767.4(LZTR1):c.891T>G (p.Tyr297Ter)
|
|
|
NM_006767.4(LZTR1):c.894G>A (p.Val298=)
|
|
|
NM_006767.4(LZTR1):c.896T>C (p.Phe299Ser)
|
|
|
NM_006767.4(LZTR1):c.897dup (p.Gly300fs)
|
|
|
NM_006767.4(LZTR1):c.899G>A (p.Gly300Glu)
|
|
|
NM_006767.4(LZTR1):c.899G>C (p.Gly300Ala)
|
|
|
NM_006767.4(LZTR1):c.901G>A (p.Gly301Ser)
|
|
|
NM_006767.4(LZTR1):c.901G>C (p.Gly301Arg)
|
|
|
NM_006767.4(LZTR1):c.901G>T (p.Gly301Cys)
|
|
|
NM_006767.4(LZTR1):c.902G>A (p.Gly301Asp)
|
|
|
NM_006767.4(LZTR1):c.902G>C (p.Gly301Ala)
|
rs139823732
|
|
NM_006767.4(LZTR1):c.902G>T (p.Gly301Val)
|
|
|
NM_006767.4(LZTR1):c.902dup (p.Ala302fs)
|
|
|
NM_006767.4(LZTR1):c.904G>A (p.Ala302Thr)
|
|
|
NM_006767.4(LZTR1):c.909C>G (p.Ala303=)
|
|
|
NM_006767.4(LZTR1):c.917C>T (p.Thr306Met)
|
rs1214662056
|
|
NM_006767.4(LZTR1):c.918G>A (p.Thr306=)
|
rs367738742
|
|
NM_006767.4(LZTR1):c.918G>T (p.Thr306=)
|
|
|
NM_006767.4(LZTR1):c.919C>T (p.Leu307=)
|
|
|
NM_006767.4(LZTR1):c.923C>T (p.Pro308Leu)
|
rs764464803
|
|
NM_006767.4(LZTR1):c.926A>G (p.Asn309Ser)
|
|
|
NM_006767.4(LZTR1):c.928_931del (p.Glu310fs)
|
|
|
NM_006767.4(LZTR1):c.930G>A (p.Glu310=)
|
|
|
NM_006767.4(LZTR1):c.930G>C (p.Glu310Asp)
|
|
|
NM_006767.4(LZTR1):c.933G>A (p.Leu311=)
|
|
|
NM_006767.4(LZTR1):c.933_940dup (p.Tyr314fs)
|
|
|
NM_006767.4(LZTR1):c.935A>G (p.His312Arg)
|
|
|
NM_006767.4(LZTR1):c.937T>A (p.Cys313Ser)
|
|
|
NM_006767.4(LZTR1):c.938G>A (p.Cys313Tyr)
|
|
|
NM_006767.4(LZTR1):c.943G>A (p.Asp315Asn)
|
|
|
NM_006767.4(LZTR1):c.946del (p.Val316fs)
|
|
|
NM_006767.4(LZTR1):c.947_949del (p.Val316del)
|
|
|
NM_006767.4(LZTR1):c.94C>T (p.His32Tyr)
|
|
|
NM_006767.4(LZTR1):c.950A>G (p.Asp317Gly)
|
|
|
NM_006767.4(LZTR1):c.955del (p.Gln319fs)
|
rs1386054181
|
|
NM_006767.4(LZTR1):c.960C>T (p.Thr320=)
|
|
|
NM_006767.4(LZTR1):c.961T>C (p.Trp321Arg)
|
|
|
NM_006767.4(LZTR1):c.963G>A (p.Trp321Ter)
|
|
|
NM_006767.4(LZTR1):c.964G>A (p.Glu322Lys)
|
|
|
NM_006767.4(LZTR1):c.964G>T (p.Glu322Ter)
|
|
|
NM_006767.4(LZTR1):c.969C>G (p.Val323=)
|
|
|
NM_006767.4(LZTR1):c.96T>A (p.His32Gln)
|
|
|
NM_006767.4(LZTR1):c.972C>G (p.Val324=)
|
|
|
NM_006767.4(LZTR1):c.973C>A (p.Gln325Lys)
|
|
|
NM_006767.4(LZTR1):c.975G>A (p.Gln325=)
|
|
|
NM_006767.4(LZTR1):c.977C>T (p.Pro326Leu)
|
|
|
NM_006767.4(LZTR1):c.978_985del (p.Ser327fs)
|
|
|
NM_006767.4(LZTR1):c.980G>A (p.Ser327Asn)
|
|
|
NM_006767.4(LZTR1):c.980G>T (p.Ser327Ile)
|
|
|
NM_006767.4(LZTR1):c.985G>A (p.Asp329Asn)
|
|
|
NM_006767.4(LZTR1):c.985del (p.Asp329fs)
|
|
|
NM_006767.4(LZTR1):c.987_988dup (p.Ser330fs)
|
|
|
NM_006767.4(LZTR1):c.990C>A (p.Ser330Arg)
|
|
|
NM_006767.4(LZTR1):c.991G>A (p.Glu331Lys)
|
|
|
NM_006767.4(LZTR1):c.991G>T (p.Glu331Ter)
|
|
|
NM_006767.4(LZTR1):c.993+1G>T
|
rs770368435
|
|
NM_006767.4(LZTR1):c.993+2T>G
|
|
|
NM_006767.4(LZTR1):c.993+4A>T
|
|
|
NM_006767.4(LZTR1):c.993+5G>A
|
|
|
NM_006767.4(LZTR1):c.993+5G>C
|
|
|
NM_006767.4(LZTR1):c.994-1G>A
|
|
|
NM_006767.4(LZTR1):c.994-1G>T
|
rs758238174
|
|
NM_006767.4(LZTR1):c.994-2A>G
|
|
|
NM_006767.4(LZTR1):c.998G>A (p.Gly333Asp)
|
|
|
NM_014210.4(EVI2A):c.329T>C (p.Ile110Thr)
|
|
|