NM_207361.6(FREM2):c.2233= (p.Pro745=)
|
rs2496423
|
0.99994
|
NM_207361.6(FREM2):c.576G>A (p.Glu192=)
|
rs1868464
|
0.99992
|
NM_207361.6(FREM2):c.5173+208T>C
|
rs2496427
|
0.99989
|
NM_207361.6(FREM2):c.5410+25T>C
|
rs2442370
|
0.94938
|
NM_207361.6(FREM2):c.5641+256T>C
|
rs4941898
|
0.79934
|
NM_207361.6(FREM2):c.8672-36T>C
|
rs1540131
|
0.73693
|
NM_207361.6(FREM2):c.9006+159A>G
|
rs6563647
|
0.73618
|
NM_207361.6(FREM2):c.*4465C>T
|
rs2027770
|
0.73599
|
NM_207361.6(FREM2):c.6977C>T (p.Thr2326Ile)
|
rs9548509
|
0.73365
|
NC_000013.11:g.38687014T>G
|
rs9634754
|
0.54338
|
NM_207361.6(FREM2):c.*1428A>G
|
rs9548522
|
0.47270
|
NM_207361.6(FREM2):c.3209T>C (p.Phe1070Ser)
|
rs2496425
|
0.43515
|
NM_207361.6(FREM2):c.7398A>G (p.Thr2466=)
|
rs9532292
|
0.39041
|
NM_207361.6(FREM2):c.7651+184G>A
|
rs9548513
|
0.38499
|
NM_207361.6(FREM2):c.*342G>A
|
rs9603463
|
0.35702
|
NM_207361.6(FREM2):c.8177-164A>G
|
rs9548518
|
0.32434
|
NM_207361.6(FREM2):c.7652-29C>A
|
rs9566369
|
0.31148
|
NM_207361.6(FREM2):c.8860-34C>T
|
rs9532296
|
0.28896
|
NM_207361.6(FREM2):c.5411-329T>C
|
rs4941897
|
0.28094
|
NM_207361.6(FREM2):c.8860-168C>T
|
rs7995863
|
0.27705
|
NM_207361.6(FREM2):c.*4770C>T
|
rs6563648
|
0.26840
|
NM_207361.6(FREM2):c.7056+50G>A
|
rs9548510
|
0.26659
|
NM_207361.6(FREM2):c.*3481G>A
|
rs2184141
|
0.26619
|
NM_207361.6(FREM2):c.7056+186T>C
|
rs9548511
|
0.26606
|
NM_207361.6(FREM2):c.*3192T>C
|
rs7337135
|
0.26600
|
NM_207361.6(FREM2):c.*2926G>A
|
rs1945508
|
0.26131
|
NM_207361.6(FREM2):c.*4560G>A
|
rs2225623
|
0.26118
|
NM_207361.6(FREM2):c.6020-149A>G
|
rs9532291
|
0.25067
|
NM_207361.6(FREM2):c.6578-234C>T
|
rs4303350
|
0.24955
|
NM_207361.6(FREM2):c.6578-203G>A
|
rs4280113
|
0.24938
|
NM_207361.6(FREM2):c.7519+86A>G
|
rs9594304
|
0.24170
|
NM_207361.6(FREM2):c.7519+62A>G
|
rs9576629
|
0.21174
|
NC_000013.11:g.38686785T>C
|
rs55922882
|
0.21023
|
NM_207361.6(FREM2):c.8177-275A>G
|
rs9566371
|
0.20904
|
NM_207361.6(FREM2):c.8177-143T>C
|
rs4943614
|
0.19716
|
NM_207361.6(FREM2):c.7984-10G>A
|
rs9532295
|
0.19705
|
NM_207361.6(FREM2):c.8282-20A>C
|
rs1945510
|
0.19704
|
NM_207361.6(FREM2):c.6020-259T>C
|
rs9532290
|
0.19697
|
NM_207361.6(FREM2):c.7984-278_7984-274dup
|
rs113679598
|
0.19609
|
NM_207361.6(FREM2):c.1542C>T (p.Ala514=)
|
rs12874397
|
0.18215
|
NM_207361.6(FREM2):c.8671+177A>T
|
rs1945509
|
0.16980
|
NM_207361.6(FREM2):c.5518C>T (p.Arg1840Trp)
|
rs9603422
|
0.14074
|
NM_207361.6(FREM2):c.6020-190C>T
|
rs9548501
|
0.12478
|
NM_207361.6(FREM2):c.6169+112A>G
|
rs9548504
|
0.12461
|
NM_207361.6(FREM2):c.6020-47T>C
|
rs9548502
|
0.12457
|
NM_207361.6(FREM2):c.7057-67T>C
|
rs9603455
|
0.12453
|
NM_207361.6(FREM2):c.6169+237G>A
|
rs36088006
|
0.12450
|
NM_207361.6(FREM2):c.6169+64T>G
|
rs9548503
|
0.12441
|
NM_207361.6(FREM2):c.6169+316A>G
|
rs61948017
|
0.12439
|
NM_207361.6(FREM2):c.7652-152C>T
|
rs9566368
|
0.11053
|
NM_207361.6(FREM2):c.6742+260C>T
|
rs35944548
|
0.10621
|
NM_207361.6(FREM2):c.6458C>G (p.Thr2153Ser)
|
rs9548506
|
0.10599
|
NM_207361.6(FREM2):c.6459T>C (p.Thr2153=)
|
rs9548507
|
0.10596
|
NM_207361.6(FREM2):c.*992T>C
|
rs9532297
|
0.09184
|
NM_207361.6(FREM2):c.6020-111G>A
|
rs9603452
|
0.08560
|
NM_207361.6(FREM2):c.5411-238T>G
|
rs1551026
|
0.08528
|
NM_207361.6(FREM2):c.2250C>T (p.Asp750=)
|
rs41292755
|
0.07615
|
NM_207361.6(FREM2):c.*1041C>T
|
rs9548521
|
0.07524
|
NM_207361.6(FREM2):c.8545-181T>C
|
rs4943615
|
0.07520
|
NM_207361.6(FREM2):c.2602C>G (p.Leu868Val)
|
rs7329939
|
0.06144
|
NM_207361.6(FREM2):c.2165G>A (p.Arg722Lys)
|
rs58363253
|
0.06139
|
NM_207361.6(FREM2):c.7520-143G>A
|
rs11618650
|
0.05806
|
NM_207361.6(FREM2):c.5768-185T>C
|
rs2483422
|
0.05515
|
NM_207361.6(FREM2):c.-260A>G
|
rs7997838
|
0.05375
|
NM_207361.6(FREM2):c.5173+75A>T
|
rs17058443
|
0.05343
|
NM_207361.6(FREM2):c.303C>A (p.Pro101=)
|
rs8002488
|
0.05332
|
NM_207361.6(FREM2):c.5003G>A (p.Arg1668His)
|
rs1868463
|
0.05268
|
NC_000013.11:g.38686910C>T
|
rs2496421
|
0.03866
|
NM_207361.6(FREM2):c.5263+154C>G
|
rs11842352
|
0.03692
|
NM_207361.6(FREM2):c.1941C>T (p.Asp647=)
|
rs41292751
|
0.02517
|
NM_207361.6(FREM2):c.4077T>A (p.Gly1359=)
|
rs41292757
|
0.02517
|
NM_207361.6(FREM2):c.8226C>T (p.Ala2742=)
|
rs17058710
|
0.02172
|
NM_207361.6(FREM2):c.8885C>T (p.Ala2962Val)
|
rs7996253
|
0.02012
|
NM_207361.6(FREM2):c.*1694A>G
|
rs17443589
|
0.01925
|
NM_207361.6(FREM2):c.6606G>A (p.Glu2202=)
|
rs61749310
|
0.01827
|
NM_207361.6(FREM2):c.*1624G>A
|
rs17443575
|
0.01664
|
NM_207361.6(FREM2):c.9429G>A (p.Gly3143=)
|
rs41306662
|
0.01662
|
NM_207361.6(FREM2):c.3116T>A (p.Met1039Lys)
|
rs2496424
|
0.01608
|
NM_207361.6(FREM2):c.5642-19A>G
|
rs77863177
|
0.01566
|
NM_207361.6(FREM2):c.954C>G (p.Pro318=)
|
rs9576597
|
0.01462
|
NM_207361.6(FREM2):c.*3731A>C
|
rs41286133
|
0.01007
|
NM_207361.6(FREM2):c.6339C>T (p.Pro2113=)
|
rs116383837
|
0.00953
|
NM_207361.6(FREM2):c.6036C>T (p.Phe2012=)
|
rs115455037
|
0.00893
|
NM_207361.6(FREM2):c.4901C>T (p.Thr1634Met)
|
rs74781600
|
0.00872
|
NM_207361.6(FREM2):c.3753C>T (p.Ser1251=)
|
rs78099370
|
0.00823
|
NM_207361.6(FREM2):c.1518C>T (p.Ser506=)
|
rs141821695
|
0.00784
|
NM_207361.6(FREM2):c.*4907C>T
|
rs185608262
|
0.00754
|
NM_207361.6(FREM2):c.6989T>C (p.Val2330Ala)
|
rs61744595
|
0.00751
|
NM_207361.6(FREM2):c.1188G>C (p.Gln396His)
|
rs61997174
|
0.00747
|
NM_207361.6(FREM2):c.5264-19T>G
|
rs112155555
|
0.00631
|
NM_207361.6(FREM2):c.7520-50A>G
|
rs150920693
|
0.00626
|
NM_207361.6(FREM2):c.2978A>G (p.Glu993Gly)
|
rs61742843
|
0.00597
|
NM_207361.6(FREM2):c.6330T>G (p.Leu2110=)
|
rs112083916
|
0.00535
|
NM_207361.6(FREM2):c.6396C>T (p.Phe2132=)
|
rs61745902
|
0.00525
|
NM_207361.6(FREM2):c.2600C>T (p.Thr867Ile)
|
rs61995710
|
0.00520
|
NM_207361.6(FREM2):c.4031G>A (p.Arg1344His)
|
rs143044921
|
0.00430
|
NM_207361.6(FREM2):c.7068C>T (p.Ala2356=)
|
rs74577582
|
0.00410
|
NM_207361.6(FREM2):c.4730T>C (p.Ile1577Thr)
|
rs114798977
|
0.00408
|
NM_207361.6(FREM2):c.4726C>G (p.Pro1576Ala)
|
rs116742938
|
0.00406
|
NM_207361.6(FREM2):c.3979T>A (p.Leu1327Ile)
|
rs116653247
|
0.00384
|
NM_207361.6(FREM2):c.8902G>A (p.Val2968Ile)
|
rs116099212
|
0.00379
|
NM_207361.6(FREM2):c.6925+7G>T
|
rs79530106
|
0.00364
|
NM_207361.6(FREM2):c.4319C>A (p.Thr1440Lys)
|
rs79048205
|
0.00348
|
NM_207361.6(FREM2):c.5642-12T>C
|
rs144415935
|
0.00329
|
NM_207361.6(FREM2):c.8460C>G (p.Ala2820=)
|
rs138775857
|
0.00325
|
NM_207361.6(FREM2):c.9266A>G (p.His3089Arg)
|
rs76949956
|
0.00279
|
NM_207361.6(FREM2):c.7335T>C (p.Gly2445=)
|
rs141921562
|
0.00276
|
NM_207361.6(FREM2):c.2128C>T (p.Arg710Cys)
|
rs41292753
|
0.00274
|
NM_207361.6(FREM2):c.9071A>G (p.Asn3024Ser)
|
rs115149211
|
0.00261
|
NM_207361.6(FREM2):c.5354A>C (p.Lys1785Thr)
|
rs116599611
|
0.00248
|
NM_207361.6(FREM2):c.9113T>C (p.Val3038Ala)
|
rs114688149
|
0.00204
|
NM_207361.6(FREM2):c.84C>G (p.Pro28=)
|
rs141718695
|
0.00194
|
NM_207361.6(FREM2):c.4686T>C (p.Asp1562=)
|
rs17058435
|
0.00172
|
NM_207361.6(FREM2):c.7323G>A (p.Ala2441=)
|
rs147563277
|
0.00155
|
NM_207361.6(FREM2):c.714G>A (p.Gln238=)
|
rs116236946
|
0.00150
|
NM_207361.6(FREM2):c.5544G>A (p.Glu1848=)
|
rs114674141
|
0.00141
|
NM_207361.6(FREM2):c.5642-9T>C
|
rs148794835
|
0.00141
|
NM_207361.6(FREM2):c.595G>T (p.Ala199Ser)
|
rs151296346
|
0.00134
|
NM_207361.6(FREM2):c.2740T>G (p.Cys914Gly)
|
rs146685625
|
0.00127
|
NM_207361.6(FREM2):c.9038C>T (p.Thr3013Met)
|
rs114400765
|
0.00118
|
NM_207361.6(FREM2):c.7429C>T (p.Arg2477Trp)
|
rs143571375
|
0.00115
|
NM_207361.6(FREM2):c.3539C>G (p.Pro1180Arg)
|
rs139236965
|
0.00107
|
NM_207361.6(FREM2):c.5417G>A (p.Gly1806Asp)
|
rs145208009
|
0.00101
|
NM_207361.6(FREM2):c.5109C>T (p.Ala1703=)
|
rs11619157
|
0.00096
|
NM_207361.6(FREM2):c.9297C>T (p.Pro3099=)
|
rs61740351
|
0.00096
|
NM_207361.6(FREM2):c.2367G>A (p.Pro789=)
|
rs140101984
|
0.00095
|
NM_207361.6(FREM2):c.8671+14A>G
|
rs182974545
|
0.00088
|
NM_207361.6(FREM2):c.8757A>G (p.Leu2919=)
|
rs144702001
|
0.00086
|
NM_207361.6(FREM2):c.1580C>T (p.Ser527Leu)
|
rs139804851
|
0.00084
|
NM_207361.6(FREM2):c.9010G>A (p.Ala3004Thr)
|
rs145461540
|
0.00084
|
NM_207361.6(FREM2):c.109C>T (p.Leu37Phe)
|
rs183560588
|
0.00081
|
NM_207361.6(FREM2):c.690T>C (p.Tyr230=)
|
rs115830086
|
0.00080
|
NM_207361.6(FREM2):c.177T>C (p.Gly59=)
|
rs370018440
|
0.00079
|
NM_207361.6(FREM2):c.2823C>T (p.Pro941=)
|
rs150154438
|
0.00079
|
NM_207361.6(FREM2):c.7590C>T (p.Gly2530=)
|
rs200338297
|
0.00079
|
NM_207361.6(FREM2):c.4916G>A (p.Arg1639Lys)
|
rs77886481
|
0.00073
|
NM_207361.6(FREM2):c.3908C>T (p.Thr1303Met)
|
rs138477887
|
0.00063
|
NM_207361.6(FREM2):c.7535G>A (p.Arg2512His)
|
rs61978626
|
0.00058
|
NM_207361.6(FREM2):c.2133G>A (p.Met711Ile)
|
rs115446826
|
0.00052
|
NM_207361.6(FREM2):c.4991C>T (p.Ala1664Val)
|
rs149779771
|
0.00051
|
NM_207361.6(FREM2):c.6664C>T (p.Pro2222Ser)
|
rs137899618
|
0.00050
|
NM_207361.6(FREM2):c.8918A>G (p.Lys2973Arg)
|
rs147506207
|
0.00047
|
NM_207361.6(FREM2):c.2754C>T (p.Val918=)
|
rs140353326
|
0.00046
|
NM_207361.6(FREM2):c.4960A>C (p.Ser1654Arg)
|
rs114595447
|
0.00046
|
NM_207361.6(FREM2):c.4632T>C (p.Ser1544=)
|
rs146140915
|
0.00043
|
NM_207361.6(FREM2):c.6201T>A (p.Asn2067Lys)
|
rs114229197
|
0.00042
|
NM_207361.6(FREM2):c.7152C>T (p.Asp2384=)
|
rs142939064
|
0.00041
|
NM_207361.6(FREM2):c.2538C>A (p.Ile846=)
|
rs377627650
|
0.00039
|
NM_207361.6(FREM2):c.4581C>T (p.Ser1527=)
|
rs114925418
|
0.00039
|
NM_207361.6(FREM2):c.7966A>T (p.Ile2656Phe)
|
rs150007765
|
0.00035
|
NM_207361.6(FREM2):c.8196C>T (p.Ser2732=)
|
rs151062281
|
0.00034
|
NM_207361.6(FREM2):c.181G>C (p.Ala61Pro)
|
rs553605556
|
0.00032
|
NM_207361.6(FREM2):c.560C>T (p.Pro187Leu)
|
rs200691357
|
0.00032
|
NM_207361.6(FREM2):c.2432G>A (p.Gly811Glu)
|
rs147293913
|
0.00031
|
NM_207361.6(FREM2):c.8906T>C (p.Leu2969Pro)
|
rs140937193
|
0.00031
|
NM_207361.6(FREM2):c.6860T>C (p.Ile2287Thr)
|
rs200983871
|
0.00030
|
NM_207361.6(FREM2):c.2480A>C (p.Asn827Thr)
|
rs190810317
|
0.00029
|
NM_207361.6(FREM2):c.8337C>T (p.Ser2779=)
|
rs181564966
|
0.00028
|
NM_207361.6(FREM2):c.7062G>A (p.Thr2354=)
|
rs41286130
|
0.00026
|
NM_207361.6(FREM2):c.826A>G (p.Asn276Asp)
|
rs200898675
|
0.00026
|
NM_207361.6(FREM2):c.9009C>T (p.Val3003=)
|
rs145657148
|
0.00026
|
NM_207361.6(FREM2):c.5173+10A>G
|
rs375573633
|
0.00024
|
NM_207361.6(FREM2):c.9356C>T (p.Thr3119Met)
|
rs143100970
|
0.00024
|
NM_207361.6(FREM2):c.5279C>T (p.Thr1760Met)
|
rs114171443
|
0.00022
|
NM_207361.6(FREM2):c.6020-13C>T
|
rs200860319
|
0.00022
|
NM_207361.6(FREM2):c.1191C>T (p.Pro397=)
|
rs199831729
|
0.00021
|
NM_207361.6(FREM2):c.1677G>C (p.Gln559His)
|
rs199921323
|
0.00021
|
NM_207361.6(FREM2):c.1701G>A (p.Thr567=)
|
rs115263122
|
0.00021
|
NM_207361.6(FREM2):c.2180G>A (p.Arg727His)
|
rs201714905
|
0.00021
|
NM_207361.6(FREM2):c.9007-8C>T
|
rs374741888
|
0.00021
|
NM_207361.6(FREM2):c.1505C>T (p.Ser502Phe)
|
rs202008233
|
0.00020
|
NM_207361.6(FREM2):c.9418A>G (p.Ser3140Gly)
|
rs199853872
|
0.00020
|
NM_207361.6(FREM2):c.4975G>A (p.Ala1659Thr)
|
rs114440488
|
0.00019
|
NM_207361.6(FREM2):c.4567C>T (p.Arg1523Cys)
|
rs200817424
|
0.00018
|
NM_207361.6(FREM2):c.1345C>G (p.Leu449Val)
|
rs190063725
|
0.00016
|
NM_207361.6(FREM2):c.2987T>A (p.Val996Asp)
|
rs138416277
|
0.00016
|
NM_207361.6(FREM2):c.7366G>A (p.Asp2456Asn)
|
rs138539682
|
0.00016
|
NM_207361.6(FREM2):c.8172T>A (p.Leu2724=)
|
rs201065518
|
0.00016
|
NM_207361.6(FREM2):c.9337A>G (p.Thr3113Ala)
|
rs202106776
|
0.00014
|
NM_207361.6(FREM2):c.1369C>G (p.Leu457Val)
|
rs141900626
|
0.00013
|
NM_207361.6(FREM2):c.4558C>T (p.Arg1520Trp)
|
rs142322683
|
0.00013
|
NM_207361.6(FREM2):c.5767+8G>A
|
rs372938184
|
0.00013
|
NM_207361.6(FREM2):c.6421G>A (p.Glu2141Lys)
|
rs376602370
|
0.00013
|
NM_207361.6(FREM2):c.6743-9C>T
|
rs749834830
|
0.00013
|
NM_207361.6(FREM2):c.7332C>T (p.Asp2444=)
|
rs773197293
|
0.00013
|
NM_207361.6(FREM2):c.1737C>T (p.Ile579=)
|
rs144811771
|
0.00012
|
NM_207361.6(FREM2):c.4150C>T (p.His1384Tyr)
|
rs192340937
|
0.00012
|
NM_207361.6(FREM2):c.4886A>G (p.Tyr1629Cys)
|
rs553816676
|
0.00012
|
NM_207361.6(FREM2):c.5264-5T>G
|
rs375059201
|
0.00012
|
NM_207361.6(FREM2):c.6669A>G (p.Gln2223=)
|
rs114333791
|
0.00012
|
NM_207361.6(FREM2):c.7216-4G>A
|
rs373594819
|
0.00012
|
NM_207361.6(FREM2):c.3143A>G (p.Asn1048Ser)
|
rs115192563
|
0.00011
|
NM_207361.6(FREM2):c.6273G>A (p.Ala2091=)
|
rs769687764
|
0.00011
|
NM_207361.6(FREM2):c.7427C>T (p.Ser2476Phe)
|
rs574419341
|
0.00011
|
NM_207361.6(FREM2):c.2075G>A (p.Arg692His)
|
rs367642497
|
0.00010
|
NM_207361.6(FREM2):c.4702C>T (p.Leu1568=)
|
rs558845582
|
0.00010
|
NM_207361.6(FREM2):c.5790G>A (p.Pro1930=)
|
rs114346379
|
0.00010
|
NM_207361.6(FREM2):c.6333C>T (p.Gly2111=)
|
rs116763572
|
0.00010
|
NM_207361.6(FREM2):c.4038G>A (p.Gly1346=)
|
rs139044304
|
0.00009
|
NM_207361.6(FREM2):c.6957C>A (p.His2319Gln)
|
rs182710790
|
0.00009
|
NM_207361.6(FREM2):c.7216-5C>T
|
rs534318261
|
0.00009
|
NM_207361.6(FREM2):c.8160A>C (p.Pro2720=)
|
rs200528879
|
0.00009
|
NM_207361.6(FREM2):c.9238C>T (p.Leu3080=)
|
rs138154238
|
0.00009
|
NM_207361.6(FREM2):c.2801G>A (p.Arg934Gln)
|
rs145484598
|
0.00008
|
NM_207361.6(FREM2):c.532C>A (p.Gln178Lys)
|
rs148774506
|
0.00008
|
NM_207361.6(FREM2):c.7652-12G>A
|
rs371011727
|
0.00008
|
NM_207361.6(FREM2):c.7359G>A (p.Val2453=)
|
rs115054860
|
0.00007
|
NM_207361.6(FREM2):c.7883G>A (p.Arg2628Gln)
|
rs199993718
|
0.00007
|
NM_207361.6(FREM2):c.1603C>T (p.Arg535Cys)
|
rs201457616
|
0.00006
|
NM_207361.6(FREM2):c.1647C>A (p.Phe549Leu)
|
rs114341997
|
0.00006
|
NM_207361.6(FREM2):c.3087G>A (p.Ala1029=)
|
rs561336798
|
0.00006
|
NM_207361.6(FREM2):c.3785G>C (p.Ser1262Thr)
|
rs753652530
|
0.00006
|
NM_207361.6(FREM2):c.5059G>T (p.Glu1687Ter)
|
rs148965852
|
0.00006
|
NM_207361.6(FREM2):c.5060A>C (p.Glu1687Ala)
|
rs143708269
|
0.00006
|
NM_207361.6(FREM2):c.6108C>T (p.Asp2036=)
|
rs200508468
|
0.00006
|
NM_207361.6(FREM2):c.6272C>T (p.Ala2091Val)
|
rs374178459
|
0.00006
|
NM_207361.6(FREM2):c.7103A>T (p.Asp2368Val)
|
rs760834204
|
0.00006
|
NM_207361.6(FREM2):c.8227G>A (p.Val2743Met)
|
rs201978814
|
0.00006
|
NM_207361.6(FREM2):c.105G>T (p.Leu35=)
|
rs766742509
|
0.00005
|
NM_207361.6(FREM2):c.2093G>A (p.Arg698His)
|
rs201217034
|
0.00005
|
NM_207361.6(FREM2):c.2596T>A (p.Phe866Ile)
|
rs566743573
|
0.00005
|
NM_207361.6(FREM2):c.4569T>C (p.Arg1523=)
|
rs146585542
|
0.00005
|
NM_207361.6(FREM2):c.6465T>C (p.Asp2155=)
|
rs373878188
|
0.00005
|
NM_207361.6(FREM2):c.6807G>A (p.Ser2269=)
|
rs752080876
|
0.00005
|
NM_207361.6(FREM2):c.8281+10G>A
|
rs374250366
|
0.00005
|
NM_207361.6(FREM2):c.8461C>G (p.Pro2821Ala)
|
rs186980482
|
0.00005
|
NM_207361.6(FREM2):c.1394C>T (p.Pro465Leu)
|
rs755744742
|
0.00004
|
NM_207361.6(FREM2):c.1395G>A (p.Pro465=)
|
rs181720619
|
0.00004
|
NM_207361.6(FREM2):c.1921A>G (p.Thr641Ala)
|
rs116802472
|
0.00004
|
NM_207361.6(FREM2):c.2426G>A (p.Arg809Gln)
|
rs762195899
|
0.00004
|
NM_207361.6(FREM2):c.383C>T (p.Pro128Leu)
|
rs114864077
|
0.00004
|
NM_207361.6(FREM2):c.38G>A (p.Arg13Gln)
|
rs765718616
|
0.00004
|
NM_207361.6(FREM2):c.4657C>G (p.Pro1553Ala)
|
rs184635412
|
0.00004
|
NM_207361.6(FREM2):c.4823G>A (p.Gly1608Asp)
|
rs767651775
|
0.00004
|
NM_207361.6(FREM2):c.5162dup (p.Phe1722fs)
|
rs769926034
|
0.00004
|
NM_207361.6(FREM2):c.5276T>C (p.Leu1759Ser)
|
rs750450348
|
0.00004
|
NM_207361.6(FREM2):c.5610C>T (p.Val1870=)
|
rs908107058
|
0.00004
|
NM_207361.6(FREM2):c.5721C>T (p.Ser1907=)
|
rs771108561
|
0.00004
|
NM_207361.6(FREM2):c.6004C>T (p.Pro2002Ser)
|
rs372782469
|
0.00004
|
NM_207361.6(FREM2):c.7216-15A>G
|
rs759789024
|
0.00004
|
NM_207361.6(FREM2):c.8509C>T (p.Pro2837Ser)
|
rs766715445
|
0.00004
|
NM_207361.6(FREM2):c.1250T>C (p.Leu417Pro)
|
rs571694324
|
0.00003
|
NM_207361.6(FREM2):c.219G>A (p.Val73=)
|
rs115510540
|
0.00003
|
NM_207361.6(FREM2):c.2207G>A (p.Arg736Gln)
|
rs201173265
|
0.00003
|
NM_207361.6(FREM2):c.335A>G (p.Asn112Ser)
|
rs767098305
|
0.00003
|
NM_207361.6(FREM2):c.3747C>T (p.Val1249=)
|
rs773900493
|
0.00003
|
NM_207361.6(FREM2):c.4283G>A (p.Gly1428Glu)
|
rs369891021
|
0.00003
|
NM_207361.6(FREM2):c.4415C>T (p.Thr1472Met)
|
rs141478658
|
0.00003
|
NM_207361.6(FREM2):c.6016G>C (p.Asp2006His)
|
rs1231644914
|
0.00003
|
NM_207361.6(FREM2):c.6453T>C (p.His2151=)
|
rs759223664
|
0.00003
|
NM_207361.6(FREM2):c.6499C>T (p.Arg2167Trp)
|
rs114837786
|
0.00003
|
NM_207361.6(FREM2):c.1284G>A (p.Met428Ile)
|
rs746265965
|
0.00002
|
NM_207361.6(FREM2):c.2206C>T (p.Arg736Ter)
|
rs939534674
|
0.00002
|
NM_207361.6(FREM2):c.2473G>A (p.Val825Met)
|
rs757937131
|
0.00002
|
NM_207361.6(FREM2):c.3261A>G (p.Ser1087=)
|
rs756734660
|
0.00002
|
NM_207361.6(FREM2):c.362G>A (p.Arg121His)
|
rs1320388887
|
0.00002
|
NM_207361.6(FREM2):c.4439C>T (p.Thr1480Met)
|
rs773471950
|
0.00002
|
NM_207361.6(FREM2):c.4561A>C (p.Thr1521Pro)
|
rs777697719
|
0.00002
|
NM_207361.6(FREM2):c.486G>A (p.Gly162=)
|
rs924908490
|
0.00002
|
NM_207361.6(FREM2):c.5138A>G (p.Asp1713Gly)
|
rs778728471
|
0.00002
|
NM_207361.6(FREM2):c.5580C>T (p.Pro1860=)
|
rs780872307
|
0.00002
|
NM_207361.6(FREM2):c.6109C>A (p.Leu2037Met)
|
rs539893834
|
0.00002
|
NM_207361.6(FREM2):c.6334G>A (p.Glu2112Lys)
|
rs746057172
|
0.00002
|
NM_207361.6(FREM2):c.65C>T (p.Pro22Leu)
|
rs1460573845
|
0.00002
|
NM_207361.6(FREM2):c.6740A>G (p.Asp2247Gly)
|
rs766949299
|
0.00002
|
NM_207361.6(FREM2):c.6826G>A (p.Val2276Met)
|
rs555028352
|
0.00002
|
NM_207361.6(FREM2):c.7800C>T (p.Thr2600=)
|
rs116030904
|
0.00002
|
NM_207361.6(FREM2):c.8281+9C>T
|
rs542074736
|
0.00002
|
NM_207361.6(FREM2):c.8451A>C (p.Pro2817=)
|
rs201533042
|
0.00002
|
NM_207361.6(FREM2):c.8484G>A (p.Leu2828=)
|
rs772325914
|
0.00002
|
NM_207361.6(FREM2):c.8970T>C (p.Ser2990=)
|
rs768328161
|
0.00002
|
NM_207361.6(FREM2):c.9463C>T (p.Pro3155Ser)
|
rs555402630
|
0.00002
|
NM_207361.6(FREM2):c.1020A>G (p.Pro340=)
|
rs150328266
|
0.00001
|
NM_207361.6(FREM2):c.111C>T (p.Leu37=)
|
rs765770038
|
0.00001
|
NM_207361.6(FREM2):c.1142C>G (p.Ser381Cys)
|
rs200453874
|
0.00001
|
NM_207361.6(FREM2):c.1398A>G (p.Gln466=)
|
rs772742256
|
0.00001
|
NM_207361.6(FREM2):c.168G>A (p.Leu56=)
|
rs772196216
|
0.00001
|
NM_207361.6(FREM2):c.1782T>C (p.Ser594=)
|
rs778634657
|
0.00001
|
NM_207361.6(FREM2):c.2053G>A (p.Gly685Arg)
|
rs773636566
|
0.00001
|
NM_207361.6(FREM2):c.2103G>A (p.Pro701=)
|
rs117758105
|
0.00001
|
NM_207361.6(FREM2):c.2214A>G (p.Leu738=)
|
rs533231784
|
0.00001
|
NM_207361.6(FREM2):c.234A>G (p.Gly78=)
|
rs750047827
|
0.00001
|
NM_207361.6(FREM2):c.2559C>T (p.His853=)
|
rs779617548
|
0.00001
|
NM_207361.6(FREM2):c.3086C>T (p.Ala1029Val)
|
rs200459256
|
0.00001
|
NM_207361.6(FREM2):c.326T>C (p.Val109Ala)
|
rs909150998
|
0.00001
|
NM_207361.6(FREM2):c.3285C>T (p.Val1095=)
|
rs747810659
|
0.00001
|
NM_207361.6(FREM2):c.332A>T (p.Asp111Val)
|
rs761430669
|
0.00001
|
NM_207361.6(FREM2):c.3712A>G (p.Ile1238Val)
|
rs776875620
|
0.00001
|
NM_207361.6(FREM2):c.3830T>G (p.Phe1277Cys)
|
rs1437152125
|
0.00001
|
NM_207361.6(FREM2):c.4063C>T (p.Arg1355Ter)
|
rs765324128
|
0.00001
|
NM_207361.6(FREM2):c.4172G>A (p.Arg1391Gln)
|
rs1367167650
|
0.00001
|
NM_207361.6(FREM2):c.4360G>A (p.Glu1454Lys)
|
rs1368509400
|
0.00001
|
NM_207361.6(FREM2):c.4396C>T (p.Arg1466Ter)
|
rs1333928954
|
0.00001
|
NM_207361.6(FREM2):c.4674C>T (p.Val1558=)
|
rs769015024
|
0.00001
|
NM_207361.6(FREM2):c.4990G>A (p.Ala1664Thr)
|
rs546732114
|
0.00001
|
NM_207361.6(FREM2):c.5410+11T>A
|
rs747849923
|
0.00001
|
NM_207361.6(FREM2):c.5500A>G (p.Arg1834Gly)
|
rs1162992431
|
0.00001
|
NM_207361.6(FREM2):c.5689G>T (p.Val1897Phe)
|
rs1213042816
|
0.00001
|
NM_207361.6(FREM2):c.5724A>G (p.Gly1908=)
|
rs1338845809
|
0.00001
|
NM_207361.6(FREM2):c.5810C>T (p.Ser1937Phe)
|
rs1020313300
|
0.00001
|
NM_207361.6(FREM2):c.6382C>T (p.Pro2128Ser)
|
rs774766906
|
0.00001
|
NM_207361.6(FREM2):c.6445A>G (p.Met2149Val)
|
rs142821775
|
0.00001
|
NM_207361.6(FREM2):c.6540C>T (p.Arg2180=)
|
rs1437502609
|
0.00001
|
NM_207361.6(FREM2):c.6727C>T (p.Arg2243Ter)
|
rs767978562
|
0.00001
|
NM_207361.6(FREM2):c.6852G>T (p.Lys2284Asn)
|
rs772357847
|
0.00001
|
NM_207361.6(FREM2):c.7177G>A (p.Ala2393Thr)
|
rs769767420
|
0.00001
|
NM_207361.6(FREM2):c.7380G>A (p.Thr2460=)
|
rs372635207
|
0.00001
|
NM_207361.6(FREM2):c.7441G>A (p.Ala2481Thr)
|
rs759338792
|
0.00001
|
NM_207361.6(FREM2):c.7519+12C>T
|
rs1376730588
|
0.00001
|
NM_207361.6(FREM2):c.7652-13C>T
|
rs766713506
|
0.00001
|
NM_207361.6(FREM2):c.8176+2dup
|
rs779126010
|
0.00001
|
NM_207361.6(FREM2):c.8218C>T (p.Arg2740Cys)
|
rs775185183
|
0.00001
|
NM_207361.6(FREM2):c.8342G>A (p.Arg2781His)
|
rs756570666
|
0.00001
|
NM_207361.6(FREM2):c.8619G>A (p.Leu2873=)
|
rs745468085
|
0.00001
|
NM_207361.6(FREM2):c.8777A>G (p.Tyr2926Cys)
|
rs1878414292
|
0.00001
|
NM_207361.6(FREM2):c.8838C>T (p.Leu2946=)
|
rs769142295
|
0.00001
|
NM_207361.6(FREM2):c.9184G>T (p.Ala3062Ser)
|
rs140456319
|
0.00001
|
NM_207361.6(FREM2):c.9282A>C (p.Pro3094=)
|
rs549071375
|
0.00001
|
NM_207361.6(FREM2):c.993C>G (p.Asp331Glu)
|
rs767767229
|
0.00001
|
GRCh37/hg19 13q13.3(chr13:39448121-39527619)x1
|
|
|
NC_000013.11:g.38686756C>T
|
rs55860060
|
|
NM_207361.6(FREM2):c.*1467G>A
|
rs9548523
|
|
NM_207361.6(FREM2):c.*2140C>G
|
rs7324632
|
|
NM_207361.6(FREM2):c.1008G>C (p.Thr336=)
|
|
|
NM_207361.6(FREM2):c.1017C>T (p.Thr339=)
|
|
|
NM_207361.6(FREM2):c.102G>A (p.Leu34=)
|
|
|
NM_207361.6(FREM2):c.1035C>T (p.Ala345=)
|
|
|
NM_207361.6(FREM2):c.1053C>T (p.Pro351=)
|
|
|
NM_207361.6(FREM2):c.1056T>A (p.Ser352=)
|
|
|
NM_207361.6(FREM2):c.105_106delinsTT (p.Leu36Phe)
|
rs1566101411
|
|
NM_207361.6(FREM2):c.1060C>T (p.Leu354=)
|
|
|
NM_207361.6(FREM2):c.1063T>C (p.Leu355=)
|
|
|
NM_207361.6(FREM2):c.1065G>A (p.Leu355=)
|
|
|
NM_207361.6(FREM2):c.1077T>A (p.Leu359=)
|
|
|
NM_207361.6(FREM2):c.1086A>T (p.Pro362=)
|
|
|
NM_207361.6(FREM2):c.1098C>T (p.Gly366=)
|
|
|
NM_207361.6(FREM2):c.1116C>T (p.Ser372=)
|
|
|
NM_207361.6(FREM2):c.1122T>A (p.Asp374Glu)
|
|
|
NM_207361.6(FREM2):c.1122T>C (p.Asp374=)
|
|
|
NM_207361.6(FREM2):c.1128C>T (p.Arg376=)
|
|
|
NM_207361.6(FREM2):c.1132C>T (p.Leu378=)
|
|
|
NM_207361.6(FREM2):c.1137C>G (p.Pro379=)
|
|
|
NM_207361.6(FREM2):c.1140T>C (p.Leu380=)
|
|
|
NM_207361.6(FREM2):c.1146C>G (p.Ser382=)
|
|
|
NM_207361.6(FREM2):c.1161T>C (p.Asp387=)
|
|
|
NM_207361.6(FREM2):c.1162C>A (p.Leu388Met)
|
|
|
NM_207361.6(FREM2):c.1165C>A (p.Arg389=)
|
|
|
NM_207361.6(FREM2):c.1166G>T (p.Arg389Leu)
|
|
|
NM_207361.6(FREM2):c.1188G>A (p.Gln396=)
|
|
|
NM_207361.6(FREM2):c.1192C>G (p.Pro398Ala)
|
rs372777373
|
|
NM_207361.6(FREM2):c.1205C>T (p.Ser402Phe)
|
|
|
NM_207361.6(FREM2):c.1206T>A (p.Ser402=)
|
|
|
NM_207361.6(FREM2):c.1209C>T (p.Asp403=)
|
|
|
NM_207361.6(FREM2):c.1215G>A (p.Glu405=)
|
|
|
NM_207361.6(FREM2):c.1223T>C (p.Phe408Ser)
|
|
|
NM_207361.6(FREM2):c.1230G>A (p.Leu410=)
|
|
|
NM_207361.6(FREM2):c.1231G>T (p.Glu411Ter)
|
|
|
NM_207361.6(FREM2):c.1238A>T (p.Glu413Val)
|
rs2138064285
|
|
NM_207361.6(FREM2):c.1260A>G (p.Ala420=)
|
|
|
NM_207361.6(FREM2):c.1263T>G (p.Ala421=)
|
|
|
NM_207361.6(FREM2):c.1288G>A (p.Val430Met)
|
|
|
NM_207361.6(FREM2):c.1296G>A (p.Lys432=)
|
|
|
NM_207361.6(FREM2):c.12C>A (p.Ala4=)
|
|
|
NM_207361.6(FREM2):c.12C>T (p.Ala4=)
|
|
|
NM_207361.6(FREM2):c.1317G>A (p.Pro439=)
|
|
|
NM_207361.6(FREM2):c.1317G>C (p.Pro439=)
|
|
|
NM_207361.6(FREM2):c.1317G>T (p.Pro439=)
|
|
|
NM_207361.6(FREM2):c.1326C>T (p.Thr442=)
|
|
|
NM_207361.6(FREM2):c.1335C>T (p.Thr445=)
|
|
|
NM_207361.6(FREM2):c.1343T>A (p.Ile448Asn)
|
|
|
NM_207361.6(FREM2):c.1344T>A (p.Ile448=)
|
|
|
NM_207361.6(FREM2):c.1349A>G (p.Tyr450Cys)
|
|
|
NM_207361.6(FREM2):c.1353G>A (p.Glu451=)
|
rs1303392488
|
|
NM_207361.6(FREM2):c.135G>T (p.Pro45=)
|
rs886050186
|
|
NM_207361.6(FREM2):c.1363C>A (p.Arg455=)
|
|
|
NM_207361.6(FREM2):c.1364G>A (p.Arg455Gln)
|
rs1217298919
|
|
NM_207361.6(FREM2):c.1392T>C (p.Gly464=)
|
|
|
NM_207361.6(FREM2):c.1395G>C (p.Pro465=)
|
|
|
NM_207361.6(FREM2):c.1413C>T (p.Ser471=)
|
|
|
NM_207361.6(FREM2):c.1425C>T (p.Asp475=)
|
|
|
NM_207361.6(FREM2):c.1426C>T (p.Leu476=)
|
|
|
NM_207361.6(FREM2):c.1434A>C (p.Ala478=)
|
|
|
NM_207361.6(FREM2):c.1439G>A (p.Arg480Gln)
|
|
|
NM_207361.6(FREM2):c.1440G>A (p.Arg480=)
|
|
|
NM_207361.6(FREM2):c.1446G>A (p.Glu482=)
|
|
|
NM_207361.6(FREM2):c.1462C>A (p.Arg488=)
|
|
|
NM_207361.6(FREM2):c.1463G>A (p.Arg488Gln)
|
|
|
NM_207361.6(FREM2):c.1464G>T (p.Arg488=)
|
|
|
NM_207361.6(FREM2):c.1506T>A (p.Ser502=)
|
|
|
NM_207361.6(FREM2):c.1524A>G (p.Thr508=)
|
|
|
NM_207361.6(FREM2):c.1533G>A (p.Glu511=)
|
|
|
NM_207361.6(FREM2):c.1541_1542delinsGT (p.Ala514Gly)
|
rs1566103099
|
|
NM_207361.6(FREM2):c.1545C>T (p.Gly515=)
|
|
|
NM_207361.6(FREM2):c.1545_1552del (p.Gln516fs)
|
|
|
NM_207361.6(FREM2):c.1551G>C (p.Val517=)
|
|
|
NM_207361.6(FREM2):c.1554C>G (p.Val518=)
|
|
|
NM_207361.6(FREM2):c.1566T>C (p.Asp522=)
|
|
|
NM_207361.6(FREM2):c.1569C>T (p.Asp523=)
|
|
|
NM_207361.6(FREM2):c.1575C>T (p.Asp525=)
|
|
|
NM_207361.6(FREM2):c.1578C>T (p.Gly526=)
|
|
|
NM_207361.6(FREM2):c.1581G>A (p.Ser527=)
|
|
|
NM_207361.6(FREM2):c.1587C>T (p.Ser529=)
|
|
|
NM_207361.6(FREM2):c.1596G>C (p.Leu532=)
|
|
|
NM_207361.6(FREM2):c.1605C>T (p.Arg535=)
|
|
|
NM_207361.6(FREM2):c.1610T>G (p.Val537Gly)
|
|
|
NM_207361.6(FREM2):c.1622G>T (p.Gly541Val)
|
|
|
NM_207361.6(FREM2):c.1623C>T (p.Gly541=)
|
|
|
NM_207361.6(FREM2):c.1626G>A (p.Arg542=)
|
|
|
NM_207361.6(FREM2):c.1635A>G (p.Val545=)
|
|
|
NM_207361.6(FREM2):c.1671T>G (p.Asp557Glu)
|
rs768299920
|
|
NM_207361.6(FREM2):c.1675C>T (p.Gln559Ter)
|
|
|
NM_207361.6(FREM2):c.1680A>G (p.Pro560=)
|
|
|
NM_207361.6(FREM2):c.1689C>T (p.Leu563=)
|
|
|
NM_207361.6(FREM2):c.168G>T (p.Leu56=)
|
|
|
NM_207361.6(FREM2):c.1704G>T (p.Gly568=)
|
|
|
NM_207361.6(FREM2):c.1740G>T (p.Leu580=)
|
|
|
NM_207361.6(FREM2):c.1749C>T (p.Ser583=)
|
|
|
NM_207361.6(FREM2):c.176G>A (p.Gly59Asp)
|
rs115327344
|
|
NM_207361.6(FREM2):c.1773A>G (p.Ser591=)
|
|
|
NM_207361.6(FREM2):c.1774G>T (p.Asp592Tyr)
|
rs368864300
|
|
NM_207361.6(FREM2):c.1797G>A (p.Val599=)
|
|
|
NM_207361.6(FREM2):c.1798C>T (p.Leu600=)
|
rs745963596
|
|
NM_207361.6(FREM2):c.1806A>G (p.Ser602=)
|
|
|
NM_207361.6(FREM2):c.1809C>T (p.Pro603=)
|
|
|
NM_207361.6(FREM2):c.1815A>G (p.Leu605=)
|
|
|
NM_207361.6(FREM2):c.1820C>T (p.Thr607Met)
|
|
|
NM_207361.6(FREM2):c.1821G>A (p.Thr607=)
|
|
|
NM_207361.6(FREM2):c.1821G>C (p.Thr607=)
|
|
|
NM_207361.6(FREM2):c.1823G>A (p.Gly608Glu)
|
rs774621627
|
|
NM_207361.6(FREM2):c.1824G>A (p.Gly608=)
|
rs762144113
|
|
NM_207361.6(FREM2):c.1824G>T (p.Gly608=)
|
|
|
NM_207361.6(FREM2):c.1839C>T (p.Arg613=)
|
|
|
NM_207361.6(FREM2):c.183G>A (p.Ala61=)
|
|
|
NM_207361.6(FREM2):c.1843A>G (p.Thr615Ala)
|
rs2138065634
|
|
NM_207361.6(FREM2):c.1844_1846delinsTTT (p.Thr615_His616delinsIleTyr)
|
|
|
NM_207361.6(FREM2):c.184G>T (p.Gly62Trp)
|
|
|
NM_207361.6(FREM2):c.1851T>A (p.Pro617=)
|
|
|
NM_207361.6(FREM2):c.1854C>G (p.Pro618=)
|
|
|
NM_207361.6(FREM2):c.1854C>T (p.Pro618=)
|
|
|
NM_207361.6(FREM2):c.1857T>C (p.His619=)
|
|
|
NM_207361.6(FREM2):c.1866G>A (p.Gln622=)
|
|
|
NM_207361.6(FREM2):c.1875C>T (p.Leu625=)
|
|
|
NM_207361.6(FREM2):c.1878A>G (p.Arg626=)
|
|
|
NM_207361.6(FREM2):c.1879G>A (p.Gly627Ser)
|
|
|
NM_207361.6(FREM2):c.187del (p.Ala63fs)
|
|
|
NM_207361.6(FREM2):c.1896G>A (p.Glu632=)
|
|
|
NM_207361.6(FREM2):c.1908T>C (p.Tyr636=)
|
|
|
NM_207361.6(FREM2):c.1913G>A (p.Arg638Gln)
|
|
|
NM_207361.6(FREM2):c.1917A>G (p.Thr639=)
|
|
|
NM_207361.6(FREM2):c.1928G>A (p.Trp643Ter)
|
|
|
NM_207361.6(FREM2):c.1932G>A (p.Gln644=)
|
|
|
NM_207361.6(FREM2):c.1953C>G (p.Gly651=)
|
|
|
NM_207361.6(FREM2):c.1959G>T (p.Leu653=)
|
|
|
NM_207361.6(FREM2):c.195G>A (p.Gly65=)
|
|
|
NM_207361.6(FREM2):c.1962C>T (p.Phe654=)
|
|
|
NM_207361.6(FREM2):c.1965T>C (p.Tyr655=)
|
|
|
NM_207361.6(FREM2):c.198C>T (p.Val66=)
|
|
|
NM_207361.6(FREM2):c.2001A>C (p.Thr667=)
|
|
|
NM_207361.6(FREM2):c.2004C>T (p.Asp668=)
|
|
|
NM_207361.6(FREM2):c.2007G>A (p.Gln669=)
|
|
|
NM_207361.6(FREM2):c.2034T>C (p.His678=)
|
|
|
NM_207361.6(FREM2):c.203C>A (p.Ala68Asp)
|
|
|
NM_207361.6(FREM2):c.2049G>A (p.Gln683=)
|
|
|
NM_207361.6(FREM2):c.2052C>T (p.Ser684=)
|
|
|
NM_207361.6(FREM2):c.2057T>C (p.Leu686Pro)
|
|
|
NM_207361.6(FREM2):c.2059C>T (p.Gln687Ter)
|
|
|
NM_207361.6(FREM2):c.2062C>G (p.Arg688Gly)
|
rs150928081
|
|
NM_207361.6(FREM2):c.2085T>A (p.Pro695=)
|
|
|
NM_207361.6(FREM2):c.2099C>A (p.Pro700His)
|
|
|
NM_207361.6(FREM2):c.2106G>A (p.Glu702=)
|
|
|
NM_207361.6(FREM2):c.2124C>G (p.Pro708=)
|
|
|
NM_207361.6(FREM2):c.2151G>A (p.Gln717=)
|
|
|
NM_207361.6(FREM2):c.2154C>G (p.Leu718=)
|
|
|
NM_207361.6(FREM2):c.2161C>T (p.Leu721=)
|
|
|
NM_207361.6(FREM2):c.2164A>C (p.Arg722=)
|
|
|
NM_207361.6(FREM2):c.2169G>A (p.Lys723=)
|
|
|
NM_207361.6(FREM2):c.2178G>A (p.Leu726=)
|
|
|
NM_207361.6(FREM2):c.2202T>C (p.Asp734=)
|
|
|
NM_207361.6(FREM2):c.2206C>A (p.Arg736=)
|
|
|
NM_207361.6(FREM2):c.2216G>A (p.Arg739His)
|
|
|
NM_207361.6(FREM2):c.2220C>T (p.Tyr740=)
|
|
|
NM_207361.6(FREM2):c.2235C>G (p.Pro745=)
|
|
|
NM_207361.6(FREM2):c.2238C>A (p.Pro746=)
|
|
|
NM_207361.6(FREM2):c.2238C>G (p.Pro746=)
|
|
|
NM_207361.6(FREM2):c.2238C>T (p.Pro746=)
|
|
|
NM_207361.6(FREM2):c.2238del (p.Thr747fs)
|
|
|
NM_207361.6(FREM2):c.2260C>T (p.Leu754=)
|
|
|
NM_207361.6(FREM2):c.2262G>A (p.Leu754=)
|
|
|
NM_207361.6(FREM2):c.2271A>G (p.Pro757=)
|
|
|
NM_207361.6(FREM2):c.2286C>T (p.Val762=)
|
|
|
NM_207361.6(FREM2):c.2289G>A (p.Leu763=)
|
|
|
NM_207361.6(FREM2):c.2292T>C (p.Thr764=)
|
|
|
NM_207361.6(FREM2):c.2301C>G (p.Pro767=)
|
|
|
NM_207361.6(FREM2):c.2307C>T (p.Val769=)
|
|
|
NM_207361.6(FREM2):c.2308G>A (p.Val770Met)
|
rs7327915
|
|
NM_207361.6(FREM2):c.2308G>T (p.Val770Leu)
|
rs7327915
|
|
NM_207361.6(FREM2):c.2310G>A (p.Val770=)
|
|
|
NM_207361.6(FREM2):c.2310G>C (p.Val770=)
|
|
|
NM_207361.6(FREM2):c.2310G>T (p.Val770=)
|
|
|
NM_207361.6(FREM2):c.231C>T (p.Arg77=)
|
|
|
NM_207361.6(FREM2):c.2325C>T (p.Thr775=)
|
|
|
NM_207361.6(FREM2):c.2331C>G (p.Ala777=)
|
|
|
NM_207361.6(FREM2):c.2355T>G (p.Ala785=)
|
|
|
NM_207361.6(FREM2):c.2364C>G (p.Pro788=)
|
|
|
NM_207361.6(FREM2):c.2367G>C (p.Pro789=)
|
|
|
NM_207361.6(FREM2):c.2369G>T (p.Gly790Val)
|
|
|
NM_207361.6(FREM2):c.2377C>T (p.Leu793=)
|
|
|
NM_207361.6(FREM2):c.237C>G (p.Leu79=)
|
|
|
NM_207361.6(FREM2):c.2382C>T (p.Gly794=)
|
|
|
NM_207361.6(FREM2):c.2383G>A (p.Val795Met)
|
|
|
NM_207361.6(FREM2):c.238C>T (p.Arg80Trp)
|
|
|
NM_207361.6(FREM2):c.2392C>T (p.Arg798Ter)
|
|
|
NM_207361.6(FREM2):c.2400C>T (p.Ala800=)
|
|
|
NM_207361.6(FREM2):c.2404T>A (p.Phe802Ile)
|
|
|
NM_207361.6(FREM2):c.2409G>A (p.Gln803=)
|
|
|
NM_207361.6(FREM2):c.2425C>T (p.Arg809Ter)
|
|
|
NM_207361.6(FREM2):c.243G>C (p.Val81=)
|
|
|
NM_207361.6(FREM2):c.2472C>T (p.Pro824=)
|
|
|
NM_207361.6(FREM2):c.2496C>T (p.Ile832=)
|
|
|
NM_207361.6(FREM2):c.2499C>T (p.Leu833=)
|
|
|
NM_207361.6(FREM2):c.24G>A (p.Gly8=)
|
|
|
NM_207361.6(FREM2):c.2502C>T (p.Asn834=)
|
|
|
NM_207361.6(FREM2):c.2505C>G (p.Thr835=)
|
|
|
NM_207361.6(FREM2):c.2505C>T (p.Thr835=)
|
|
|
NM_207361.6(FREM2):c.2511C>T (p.Phe837=)
|
|
|
NM_207361.6(FREM2):c.2532C>T (p.His844=)
|
|
|
NM_207361.6(FREM2):c.2533del (p.His845fs)
|
|
|
NM_207361.6(FREM2):c.2538C>T (p.Ile846=)
|
|
|
NM_207361.6(FREM2):c.253C>T (p.Arg85Cys)
|
rs975501544
|
|
NM_207361.6(FREM2):c.2541G>T (p.Leu847=)
|
|
|
NM_207361.6(FREM2):c.2568T>C (p.Asp856=)
|
|
|
NM_207361.6(FREM2):c.2586C>A (p.Ala862=)
|
|
|
NM_207361.6(FREM2):c.2598C>T (p.Phe866=)
|
|
|
NM_207361.6(FREM2):c.2620C>T (p.His874Tyr)
|
|
|
NM_207361.6(FREM2):c.2625C>T (p.Gly875=)
|
|
|
NM_207361.6(FREM2):c.2649C>T (p.Ile883=)
|
|
|
NM_207361.6(FREM2):c.264_265delinsAA (p.Trp88_Leu89delinsTer)
|
|
|
NM_207361.6(FREM2):c.265C>T (p.Leu89=)
|
|
|
NM_207361.6(FREM2):c.2674T>C (p.Leu892=)
|
|
|
NM_207361.6(FREM2):c.2710C>T (p.His904Tyr)
|
|
|
NM_207361.6(FREM2):c.2718G>A (p.Gly906=)
|
|
|
NM_207361.6(FREM2):c.2728C>T (p.Leu910=)
|
|
|
NM_207361.6(FREM2):c.2733T>A (p.Thr911=)
|
|
|
NM_207361.6(FREM2):c.2735_2741del (p.Asp912fs)
|
|
|
NM_207361.6(FREM2):c.273C>A (p.Pro91=)
|
|
|
NM_207361.6(FREM2):c.2769T>C (p.His923=)
|
|
|
NM_207361.6(FREM2):c.276G>C (p.Leu92=)
|
|
|
NM_207361.6(FREM2):c.2788dup (p.Arg930fs)
|
|
|
NM_207361.6(FREM2):c.2794A>T (p.Asn932Tyr)
|
|
|
NM_207361.6(FREM2):c.2799C>T (p.Val933=)
|
|
|
NM_207361.6(FREM2):c.279T>C (p.His93=)
|
|
|
NM_207361.6(FREM2):c.2800C>T (p.Arg934Trp)
|
|
|
NM_207361.6(FREM2):c.2808G>C (p.Val936=)
|
|
|
NM_207361.6(FREM2):c.2811T>C (p.Asp937=)
|
|
|
NM_207361.6(FREM2):c.2812G>A (p.Asp938Asn)
|
|
|
NM_207361.6(FREM2):c.2820G>A (p.Val940=)
|
|
|
NM_207361.6(FREM2):c.2827C>T (p.Leu943=)
|
|
|
NM_207361.6(FREM2):c.282C>T (p.Asp94=)
|
|
|
NM_207361.6(FREM2):c.2833del (p.His945fs)
|
rs759257554
|
|
NM_207361.6(FREM2):c.2853G>A (p.Glu951=)
|
|
|
NM_207361.6(FREM2):c.2862A>C (p.Leu954=)
|
|
|
NM_207361.6(FREM2):c.2868C>G (p.Val956=)
|
|
|
NM_207361.6(FREM2):c.2868C>T (p.Val956=)
|
|
|
NM_207361.6(FREM2):c.2890A>G (p.Ile964Val)
|
|
|
NM_207361.6(FREM2):c.2900A>G (p.Asn967Ser)
|
|
|
NM_207361.6(FREM2):c.2904T>C (p.Val968=)
|
|
|
NM_207361.6(FREM2):c.2912G>T (p.Gly971Val)
|
|
|
NM_207361.6(FREM2):c.2918A>T (p.Asn973Ile)
|
|
|
NM_207361.6(FREM2):c.2937G>A (p.Leu979=)
|
|
|
NM_207361.6(FREM2):c.2949C>T (p.Phe983=)
|
|
|
NM_207361.6(FREM2):c.297G>A (p.Val99=)
|
rs770972612
|
|
NM_207361.6(FREM2):c.2983T>C (p.Leu995=)
|
|
|
NM_207361.6(FREM2):c.2988C>T (p.Val996=)
|
|
|
NM_207361.6(FREM2):c.3003A>G (p.Ala1001=)
|
|
|
NM_207361.6(FREM2):c.3006G>A (p.Glu1002=)
|
|
|
NM_207361.6(FREM2):c.3015T>C (p.Thr1005=)
|
rs373638476
|
|
NM_207361.6(FREM2):c.3018A>G (p.Gln1006=)
|
|
|
NM_207361.6(FREM2):c.3030G>A (p.Leu1010=)
|
|
|
NM_207361.6(FREM2):c.3035_3040dup (p.Gly1012_Ser1013dup)
|
rs570476408
|
|
NM_207361.6(FREM2):c.303C>T (p.Pro101=)
|
|
|
NM_207361.6(FREM2):c.3042T>A (p.Val1014=)
|
|
|
NM_207361.6(FREM2):c.3045A>G (p.Val1015=)
|
|
|
NM_207361.6(FREM2):c.304G>C (p.Gly102Arg)
|
rs1869535237
|
|
NM_207361.6(FREM2):c.3052C>G (p.His1018Asp)
|
|
|
NM_207361.6(FREM2):c.3054C>T (p.His1018=)
|
|
|
NM_207361.6(FREM2):c.305G>C (p.Gly102Ala)
|
|
|
NM_207361.6(FREM2):c.3072C>T (p.Gly1024=)
|
|
|
NM_207361.6(FREM2):c.3073C>T (p.Leu1025=)
|
|
|
NM_207361.6(FREM2):c.3074T>C (p.Leu1025Pro)
|
|
|
NM_207361.6(FREM2):c.3075A>G (p.Leu1025=)
|
|
|
NM_207361.6(FREM2):c.307G>C (p.Asp103His)
|
|
|
NM_207361.6(FREM2):c.3082A>G (p.Lys1028Glu)
|
|
|
NM_207361.6(FREM2):c.3093T>A (p.Ser1031=)
|
|
|
NM_207361.6(FREM2):c.3093T>C (p.Ser1031=)
|
|
|
NM_207361.6(FREM2):c.3099C>T (p.Asn1033=)
|
|
|
NM_207361.6(FREM2):c.30C>T (p.Ser10=)
|
|
|
NM_207361.6(FREM2):c.3108G>A (p.Leu1036=)
|
|
|
NM_207361.6(FREM2):c.3109T>A (p.Ser1037Thr)
|
|
|
NM_207361.6(FREM2):c.3135T>C (p.Ile1045=)
|
|
|
NM_207361.6(FREM2):c.3151C>T (p.Gln1051Ter)
|
rs376122266
|
|
NM_207361.6(FREM2):c.3156A>T (p.Gly1052=)
|
|
|
NM_207361.6(FREM2):c.3174C>G (p.Thr1058=)
|
|
|
NM_207361.6(FREM2):c.317C>T (p.Ala106Val)
|
|
|
NM_207361.6(FREM2):c.3189T>C (p.Asp1063=)
|
|
|
NM_207361.6(FREM2):c.318G>A (p.Ala106=)
|
|
|
NM_207361.6(FREM2):c.318G>T (p.Ala106=)
|
|
|
NM_207361.6(FREM2):c.3219A>G (p.Glu1073=)
|
|
|
NM_207361.6(FREM2):c.3243T>C (p.Asp1081=)
|
|
|
NM_207361.6(FREM2):c.3245A>C (p.Lys1082Thr)
|
|
|
NM_207361.6(FREM2):c.3266A>T (p.His1089Leu)
|
|
|
NM_207361.6(FREM2):c.3276T>C (p.Ala1092=)
|
|
|
NM_207361.6(FREM2):c.3294G>T (p.Leu1098=)
|
|
|
NM_207361.6(FREM2):c.3297dup (p.Asp1100Ter)
|
|
|
NM_207361.6(FREM2):c.3316A>G (p.Ile1106Val)
|
|
|
NM_207361.6(FREM2):c.3317T>C (p.Ile1106Thr)
|
|
|
NM_207361.6(FREM2):c.331G>A (p.Asp111Asn)
|
rs1448740276
|
|
NM_207361.6(FREM2):c.3327G>A (p.Gln1109=)
|
|
|
NM_207361.6(FREM2):c.3331A>G (p.Thr1111Ala)
|
|
|
NM_207361.6(FREM2):c.3341A>G (p.Tyr1114Cys)
|
|
|
NM_207361.6(FREM2):c.3378A>G (p.Lys1126=)
|
|
|
NM_207361.6(FREM2):c.3396C>A (p.Ala1132=)
|
|
|
NM_207361.6(FREM2):c.3411C>T (p.Asn1137=)
|
|
|
NM_207361.6(FREM2):c.3417A>G (p.Lys1139=)
|
|
|
NM_207361.6(FREM2):c.3447C>G (p.Val1149=)
|
|
|
NM_207361.6(FREM2):c.3453T>C (p.Ser1151=)
|
|
|
NM_207361.6(FREM2):c.3468G>T (p.Val1156=)
|
|
|
NM_207361.6(FREM2):c.3483C>T (p.Asp1161=)
|
|
|
NM_207361.6(FREM2):c.3484C>T (p.Arg1162Ter)
|
|
|
NM_207361.6(FREM2):c.3486A>G (p.Arg1162=)
|
|
|
NM_207361.6(FREM2):c.3488T>A (p.Phe1163Tyr)
|
|
|
NM_207361.6(FREM2):c.3496C>T (p.Arg1166Cys)
|
|
|
NM_207361.6(FREM2):c.349C>T (p.Gln117Ter)
|
|
|
NM_207361.6(FREM2):c.3528A>G (p.Arg1176=)
|
|
|
NM_207361.6(FREM2):c.3543T>C (p.Ile1181=)
|
|
|
NM_207361.6(FREM2):c.354A>G (p.Arg118=)
|
|
|
NM_207361.6(FREM2):c.3558C>T (p.Thr1186=)
|
|
|
NM_207361.6(FREM2):c.3569del (p.Gln1190fs)
|
|
|
NM_207361.6(FREM2):c.3575A>G (p.Glu1192Gly)
|
|
|
NM_207361.6(FREM2):c.357G>C (p.Pro119=)
|
|
|
NM_207361.6(FREM2):c.3583A>G (p.Met1195Val)
|
|
|
NM_207361.6(FREM2):c.3589G>T (p.Glu1197Ter)
|
|
|
NM_207361.6(FREM2):c.3606A>G (p.Glu1202=)
|
|
|
NM_207361.6(FREM2):c.3612G>A (p.Met1204Ile)
|
|
|
NM_207361.6(FREM2):c.3616C>T (p.Leu1206=)
|
|
|
NM_207361.6(FREM2):c.3621A>G (p.Val1207=)
|
|
|
NM_207361.6(FREM2):c.3629C>T (p.Thr1210Ile)
|
|
|
NM_207361.6(FREM2):c.3630A>C (p.Thr1210=)
|
|
|
NM_207361.6(FREM2):c.363C>T (p.Arg121=)
|
|
|
NM_207361.6(FREM2):c.3642T>C (p.Asn1214=)
|
|
|
NM_207361.6(FREM2):c.364C>T (p.Leu122=)
|
|
|
NM_207361.6(FREM2):c.3654T>C (p.Ala1218=)
|
|
|
NM_207361.6(FREM2):c.3657T>C (p.Asp1219=)
|
|
|
NM_207361.6(FREM2):c.3658G>A (p.Val1220Ile)
|
|
|
NM_207361.6(FREM2):c.3669T>C (p.Asp1223=)
|
|
|
NM_207361.6(FREM2):c.366G>A (p.Leu122=)
|
|
|
NM_207361.6(FREM2):c.3677C>G (p.Thr1226Ser)
|
|
|
NM_207361.6(FREM2):c.3682A>G (p.Thr1228Ala)
|
|
|
NM_207361.6(FREM2):c.3687T>A (p.Ile1229=)
|
|
|
NM_207361.6(FREM2):c.3691C>T (p.Gln1231Ter)
|
|
|
NM_207361.6(FREM2):c.3703C>G (p.His1235Asp)
|
|
|
NM_207361.6(FREM2):c.3705T>C (p.His1235=)
|
|
|
NM_207361.6(FREM2):c.3711C>T (p.His1237=)
|
|
|
NM_207361.6(FREM2):c.3715A>T (p.Met1239Leu)
|
|
|
NM_207361.6(FREM2):c.3726G>A (p.Leu1242=)
|
|
|
NM_207361.6(FREM2):c.3729A>C (p.Ile1243=)
|
rs1306457101
|
|
NM_207361.6(FREM2):c.3738G>A (p.Thr1246=)
|
rs530142447
|
|
NM_207361.6(FREM2):c.3782C>T (p.Ser1261Phe)
|
|
|
NM_207361.6(FREM2):c.378C>G (p.Arg126=)
|
|
|
NM_207361.6(FREM2):c.3790A>T (p.Ile1264Phe)
|
|
|
NM_207361.6(FREM2):c.3801T>C (p.His1267=)
|
|
|
NM_207361.6(FREM2):c.3810C>G (p.Ser1270=)
|
|
|
NM_207361.6(FREM2):c.3810C>T (p.Ser1270=)
|
|
|
NM_207361.6(FREM2):c.3825C>G (p.Asp1275Glu)
|
|
|
NM_207361.6(FREM2):c.3825C>T (p.Asp1275=)
|
|
|
NM_207361.6(FREM2):c.384G>A (p.Pro128=)
|
rs1055473789
|
|
NM_207361.6(FREM2):c.3858C>T (p.His1286=)
|
|
|
NM_207361.6(FREM2):c.3864G>T (p.Val1288=)
|
|
|
NM_207361.6(FREM2):c.386G>T (p.Cys129Phe)
|
rs745938776
|
|
NM_207361.6(FREM2):c.3879C>T (p.Leu1293=)
|
|
|
NM_207361.6(FREM2):c.3882T>C (p.Ile1294=)
|
|
|
NM_207361.6(FREM2):c.3883A>G (p.Ile1295Val)
|
|
|
NM_207361.6(FREM2):c.38G>T (p.Arg13Leu)
|
|
|
NM_207361.6(FREM2):c.3900T>C (p.Asp1300=)
|
|
|
NM_207361.6(FREM2):c.3909G>A (p.Thr1303=)
|
|
|
NM_207361.6(FREM2):c.3912C>G (p.Pro1304=)
|
|
|
NM_207361.6(FREM2):c.3921T>G (p.Thr1307=)
|
|
|
NM_207361.6(FREM2):c.3927T>C (p.Asn1309=)
|
|
|
NM_207361.6(FREM2):c.3931G>T (p.Gly1311Ter)
|
|
|
NM_207361.6(FREM2):c.3937G>T (p.Glu1313Ter)
|
rs759421771
|
|
NM_207361.6(FREM2):c.3948T>C (p.Ile1316=)
|
|
|
NM_207361.6(FREM2):c.3955dup (p.Thr1319fs)
|
rs2138070304
|
|
NM_207361.6(FREM2):c.3967A>C (p.Asn1323His)
|
rs371827710
|
|
NM_207361.6(FREM2):c.3979T>C (p.Leu1327=)
|
|
|
NM_207361.6(FREM2):c.3983T>C (p.Met1328Thr)
|
rs780268243
|
|
NM_207361.6(FREM2):c.399T>C (p.Pro133=)
|
|
|
NM_207361.6(FREM2):c.39G>C (p.Arg13=)
|
|
|
NM_207361.6(FREM2):c.4020T>G (p.Val1340=)
|
|
|
NM_207361.6(FREM2):c.4032T>G (p.Arg1344=)
|
|
|
NM_207361.6(FREM2):c.4034A>G (p.Tyr1345Cys)
|
|
|
NM_207361.6(FREM2):c.4035T>C (p.Tyr1345=)
|
|
|
NM_207361.6(FREM2):c.4044A>G (p.Gly1348=)
|
|
|
NM_207361.6(FREM2):c.405G>A (p.Glu135=)
|
|
|
NM_207361.6(FREM2):c.4082T>C (p.Phe1361Ser)
|
|
|
NM_207361.6(FREM2):c.4092C>T (p.Ile1364=)
|
|
|
NM_207361.6(FREM2):c.4101C>G (p.Gly1367=)
|
|
|
NM_207361.6(FREM2):c.4113C>G (p.Thr1371=)
|
|
|
NM_207361.6(FREM2):c.4114C>T (p.Gln1372Ter)
|
|
|
NM_207361.6(FREM2):c.4134C>T (p.Asn1378=)
|
|
|
NM_207361.6(FREM2):c.4146T>C (p.Tyr1382=)
|
|
|
NM_207361.6(FREM2):c.4149C>T (p.Val1383=)
|
|
|
NM_207361.6(FREM2):c.4152T>C (p.His1384=)
|
|
|
NM_207361.6(FREM2):c.4177C>T (p.Leu1393=)
|
|
|
NM_207361.6(FREM2):c.4203A>G (p.Gly1401=)
|
|
|
NM_207361.6(FREM2):c.4206_4209del (p.Asn1403fs)
|
|
|
NM_207361.6(FREM2):c.4215C>A (p.Leu1405=)
|
|
|
NM_207361.6(FREM2):c.421C>T (p.Leu141=)
|
rs2138062058
|
|
NM_207361.6(FREM2):c.4225del (p.Tyr1409fs)
|
|
|
NM_207361.6(FREM2):c.4242C>T (p.Ile1414=)
|
|
|
NM_207361.6(FREM2):c.4266T>A (p.Pro1422=)
|
|
|
NM_207361.6(FREM2):c.4284A>G (p.Gly1428=)
|
|
|
NM_207361.6(FREM2):c.4293G>A (p.Leu1431=)
|
|
|
NM_207361.6(FREM2):c.42A>G (p.Thr14=)
|
|
|
NM_207361.6(FREM2):c.4311C>A (p.Val1437=)
|
|
|
NM_207361.6(FREM2):c.4314T>C (p.Thr1438=)
|
|
|
NM_207361.6(FREM2):c.4320A>G (p.Thr1440=)
|
|
|
NM_207361.6(FREM2):c.4321A>G (p.Thr1441Ala)
|
rs886042127
|
|
NM_207361.6(FREM2):c.4325A>G (p.Asp1442Gly)
|
|
|
NM_207361.6(FREM2):c.4327C>T (p.Leu1443=)
|
|
|
NM_207361.6(FREM2):c.4328T>C (p.Leu1443Pro)
|
|
|
NM_207361.6(FREM2):c.4331T>C (p.Leu1444Pro)
|
rs886042126
|
|
NM_207361.6(FREM2):c.4332A>G (p.Leu1444=)
|
|
|
NM_207361.6(FREM2):c.4335_4338dup (p.Ser1447delinsHisTer)
|
|
|
NM_207361.6(FREM2):c.4342G>A (p.Asp1448Asn)
|
|
|
NM_207361.6(FREM2):c.4344C>T (p.Asp1448=)
|
rs1429515434
|
|
NM_207361.6(FREM2):c.4350C>A (p.Asn1450Lys)
|
rs1869872750
|
|
NM_207361.6(FREM2):c.4356T>C (p.Pro1452=)
|
|
|
NM_207361.6(FREM2):c.4371T>A (p.Val1457=)
|
|
|
NM_207361.6(FREM2):c.4377C>T (p.Thr1459=)
|
|
|
NM_207361.6(FREM2):c.4378A>G (p.Ile1460Val)
|
|
|
NM_207361.6(FREM2):c.437C>G (p.Pro146Arg)
|
|
|
NM_207361.6(FREM2):c.4380C>T (p.Ile1460=)
|
|
|
NM_207361.6(FREM2):c.438G>A (p.Pro146=)
|
|
|
NM_207361.6(FREM2):c.438G>T (p.Pro146=)
|
|
|
NM_207361.6(FREM2):c.4404C>T (p.His1468=)
|
|
|
NM_207361.6(FREM2):c.4416G>A (p.Thr1472=)
|
|
|
NM_207361.6(FREM2):c.441T>G (p.Ser147=)
|
|
|
NM_207361.6(FREM2):c.4426G>T (p.Gly1476Cys)
|
|
|
NM_207361.6(FREM2):c.4430T>C (p.Val1477Ala)
|
rs1319182599
|
|
NM_207361.6(FREM2):c.443G>C (p.Arg148Pro)
|
|
|
NM_207361.6(FREM2):c.4440G>A (p.Thr1480=)
|
|
|
NM_207361.6(FREM2):c.4446C>T (p.Phe1482=)
|
|
|
NM_207361.6(FREM2):c.4455G>A (p.Leu1485=)
|
|
|
NM_207361.6(FREM2):c.4464T>C (p.Ala1488=)
|
|
|
NM_207361.6(FREM2):c.446_455del (p.Asp149fs)
|
rs1555260833
|
|
NM_207361.6(FREM2):c.4474A>G (p.Ile1492Val)
|
rs2138071590
|
|
NM_207361.6(FREM2):c.4501G>T (p.Glu1501Ter)
|
|
|
NM_207361.6(FREM2):c.4506G>T (p.Val1502=)
|
|
|
NM_207361.6(FREM2):c.450C>T (p.Arg150=)
|
|
|
NM_207361.6(FREM2):c.4527del (p.Gln1510fs)
|
|
|
NM_207361.6(FREM2):c.4530A>G (p.Gln1510=)
|
|
|
NM_207361.6(FREM2):c.4533C>T (p.Val1511=)
|
|
|
NM_207361.6(FREM2):c.4536C>T (p.Thr1512=)
|
|
|
NM_207361.6(FREM2):c.4537G>A (p.Asp1513Asn)
|
|
|
NM_207361.6(FREM2):c.4539T>C (p.Asp1513=)
|
|
|
NM_207361.6(FREM2):c.4544G>A (p.Arg1515His)
|
|
|
NM_207361.6(FREM2):c.4568G>A (p.Arg1523His)
|
|
|
NM_207361.6(FREM2):c.4575C>A (p.Ser1525=)
|
|
|
NM_207361.6(FREM2):c.4584T>C (p.Asp1528=)
|
|
|
NM_207361.6(FREM2):c.4587G>A (p.Val1529=)
|
|
|
NM_207361.6(FREM2):c.4588G>C (p.Asp1530His)
|
rs886043214
|
|
NM_207361.6(FREM2):c.458T>A (p.Leu153Gln)
|
|
|
NM_207361.6(FREM2):c.459G>T (p.Leu153=)
|
|
|
NM_207361.6(FREM2):c.4617C>T (p.His1539=)
|
|
|
NM_207361.6(FREM2):c.4623G>C (p.Leu1541=)
|
|
|
NM_207361.6(FREM2):c.4626T>C (p.Val1542=)
|
|
|
NM_207361.6(FREM2):c.4629C>T (p.Val1543=)
|
|
|
NM_207361.6(FREM2):c.462G>A (p.Gln154=)
|
|
|
NM_207361.6(FREM2):c.4636A>G (p.Ser1546Gly)
|
|
|
NM_207361.6(FREM2):c.4638T>C (p.Ser1546=)
|
|
|
NM_207361.6(FREM2):c.4659T>G (p.Pro1553=)
|
|
|
NM_207361.6(FREM2):c.4668C>T (p.Leu1556=)
|
|
|
NM_207361.6(FREM2):c.4688C>T (p.Thr1563Ile)
|
rs772941769
|
|
NM_207361.6(FREM2):c.4701C>G (p.Leu1567=)
|
|
|
NM_207361.6(FREM2):c.4704G>A (p.Leu1568=)
|
|
|
NM_207361.6(FREM2):c.4713T>C (p.Thr1571=)
|
|
|
NM_207361.6(FREM2):c.4719C>T (p.Thr1573=)
|
|
|
NM_207361.6(FREM2):c.4721A>G (p.Gln1574Arg)
|
|
|
NM_207361.6(FREM2):c.4734T>C (p.His1578=)
|
|
|
NM_207361.6(FREM2):c.4737C>T (p.Gly1579=)
|
|
|
NM_207361.6(FREM2):c.4743C>A (p.Leu1581=)
|
|
|
NM_207361.6(FREM2):c.474C>T (p.Asp158=)
|
|
|
NM_207361.6(FREM2):c.4758C>G (p.Thr1586=)
|
|
|
NM_207361.6(FREM2):c.4767C>T (p.Val1589=)
|
|
|
NM_207361.6(FREM2):c.477G>T (p.Ala159=)
|
|
|
NM_207361.6(FREM2):c.4794T>C (p.Asn1598=)
|
|
|
NM_207361.6(FREM2):c.4800C>T (p.Asn1600=)
|
|
|
NM_207361.6(FREM2):c.4803A>G (p.Leu1601=)
|
|
|
NM_207361.6(FREM2):c.480C>T (p.Pro160=)
|
|
|
NM_207361.6(FREM2):c.4827T>C (p.Thr1609=)
|
|
|
NM_207361.6(FREM2):c.4829A>G (p.Glu1610Gly)
|
|
|
NM_207361.6(FREM2):c.4836T>C (p.Ser1612=)
|
|
|
NM_207361.6(FREM2):c.4842T>C (p.Asp1614=)
|
|
|
NM_207361.6(FREM2):c.4860G>A (p.Val1620=)
|
|
|
NM_207361.6(FREM2):c.4863T>C (p.Thr1621=)
|
|
|
NM_207361.6(FREM2):c.4866T>C (p.Asp1622=)
|
|
|
NM_207361.6(FREM2):c.4878A>G (p.Thr1626=)
|
|
|
NM_207361.6(FREM2):c.4899T>C (p.Asp1633=)
|
|
|
NM_207361.6(FREM2):c.4901C>A (p.Thr1634Lys)
|
rs74781600
|
|
NM_207361.6(FREM2):c.4902G>A (p.Thr1634=)
|
|
|
NM_207361.6(FREM2):c.4905G>T (p.Val1635=)
|
|
|
NM_207361.6(FREM2):c.4910A>G (p.Glu1637Gly)
|
rs531905447
|
|
NM_207361.6(FREM2):c.492A>G (p.Val164=)
|
|
|
NM_207361.6(FREM2):c.4935G>A (p.Lys1645=)
|
|
|
NM_207361.6(FREM2):c.4956C>T (p.Asp1652=)
|
|
|
NM_207361.6(FREM2):c.495G>A (p.Val165=)
|
|
|
NM_207361.6(FREM2):c.495G>T (p.Val165=)
|
|
|
NM_207361.6(FREM2):c.4971A>G (p.Gln1657=)
|
|
|
NM_207361.6(FREM2):c.4974C>T (p.Ile1658=)
|
|
|
NM_207361.6(FREM2):c.4989G>A (p.Gly1663=)
|
|
|
NM_207361.6(FREM2):c.4992C>G (p.Ala1664=)
|
|
|
NM_207361.6(FREM2):c.4994C>T (p.Ser1665Phe)
|
rs1555261576
|
|
NM_207361.6(FREM2):c.4998A>T (p.Thr1666=)
|
|
|
NM_207361.6(FREM2):c.4998_4999del (p.Leu1667fs)
|
|
|
NM_207361.6(FREM2):c.5035A>C (p.Ile1679Leu)
|
|
|
NM_207361.6(FREM2):c.5040A>T (p.Thr1680=)
|
|
|
NM_207361.6(FREM2):c.5059_5060inv (p.Glu1687Ser)
|
|
|
NM_207361.6(FREM2):c.5060A>G (p.Glu1687Gly)
|
|
|
NM_207361.6(FREM2):c.507A>G (p.Val169=)
|
|
|
NM_207361.6(FREM2):c.508C>T (p.Leu170=)
|
|
|
NM_207361.6(FREM2):c.5094T>C (p.Phe1698=)
|
|
|
NM_207361.6(FREM2):c.5097C>T (p.Ile1699=)
|
|
|
NM_207361.6(FREM2):c.5103A>C (p.Thr1701=)
|
|
|
NM_207361.6(FREM2):c.5106G>A (p.Glu1702=)
|
|
|
NM_207361.6(FREM2):c.5107G>A (p.Ala1703Thr)
|
|
|
NM_207361.6(FREM2):c.5112T>G (p.Pro1704=)
|
|
|
NM_207361.6(FREM2):c.5120G>A (p.Gly1707Glu)
|
rs886044224
|
|
NM_207361.6(FREM2):c.5136G>A (p.Leu1712=)
|
|
|
NM_207361.6(FREM2):c.5148C>A (p.Asn1716Lys)
|
rs2138073287
|
|
NM_207361.6(FREM2):c.5160T>G (p.Thr1720=)
|
|
|
NM_207361.6(FREM2):c.5169A>G (p.Thr1723=)
|
|
|
NM_207361.6(FREM2):c.5170C>G (p.Gln1724Glu)
|
|
|
NM_207361.6(FREM2):c.5173+13T>C
|
|
|
NM_207361.6(FREM2):c.5173+16C>A
|
|
|
NM_207361.6(FREM2):c.5173+20del
|
|
|
NM_207361.6(FREM2):c.5174-12G>A
|
|
|
NM_207361.6(FREM2):c.5174-15T>C
|
|
|
NM_207361.6(FREM2):c.5174-16T>C
|
|
|
NM_207361.6(FREM2):c.5174-19T>G
|
|
|
NM_207361.6(FREM2):c.5174-4C>G
|
|
|
NM_207361.6(FREM2):c.5175T>C (p.Ala1725=)
|
|
|
NM_207361.6(FREM2):c.5178C>T (p.Asp1726=)
|
|
|
NM_207361.6(FREM2):c.5184T>C (p.Asp1728=)
|
|
|
NM_207361.6(FREM2):c.5197T>C (p.Cys1733Arg)
|
|
|
NM_207361.6(FREM2):c.5202T>C (p.Tyr1734=)
|
|
|
NM_207361.6(FREM2):c.5208A>G (p.Leu1736=)
|
|
|
NM_207361.6(FREM2):c.5209A>G (p.Arg1737Gly)
|
|
|
NM_207361.6(FREM2):c.5234A>G (p.Asp1745Gly)
|
|
|
NM_207361.6(FREM2):c.5250A>T (p.Ala1750=)
|
|
|
NM_207361.6(FREM2):c.525C>T (p.Val175=)
|
|
|
NM_207361.6(FREM2):c.5263+10C>T
|
rs781240147
|
|
NM_207361.6(FREM2):c.5263+12C>G
|
|
|
NM_207361.6(FREM2):c.5263+13C>G
|
|
|
NM_207361.6(FREM2):c.5263+1G>A
|
rs757243985
|
|
NM_207361.6(FREM2):c.5263+20G>A
|
|
|
NM_207361.6(FREM2):c.5263+7A>G
|
|
|
NM_207361.6(FREM2):c.5264-10dup
|
|
|
NM_207361.6(FREM2):c.5264-11T>G
|
|
|
NM_207361.6(FREM2):c.5264-16A>C
|
|
|
NM_207361.6(FREM2):c.5274_5278del (p.Lys1758fs)
|
|
|
NM_207361.6(FREM2):c.5280G>A (p.Thr1760=)
|
|
|
NM_207361.6(FREM2):c.5280G>T (p.Thr1760=)
|
|
|
NM_207361.6(FREM2):c.5283C>A (p.Tyr1761Ter)
|
|
|
NM_207361.6(FREM2):c.5293C>T (p.Arg1765Cys)
|
|
|
NM_207361.6(FREM2):c.5294G>A (p.Arg1765His)
|
|
|
NM_207361.6(FREM2):c.5295T>G (p.Arg1765=)
|
|
|
NM_207361.6(FREM2):c.5309G>A (p.Trp1770Ter)
|
rs1566133616
|
|
NM_207361.6(FREM2):c.5316C>A (p.Ser1772=)
|
|
|
NM_207361.6(FREM2):c.5316C>T (p.Ser1772=)
|
|
|
NM_207361.6(FREM2):c.531C>T (p.Thr177=)
|
|
|
NM_207361.6(FREM2):c.5328A>G (p.Glu1776=)
|
|
|
NM_207361.6(FREM2):c.5331T>C (p.Tyr1777=)
|
|
|
NM_207361.6(FREM2):c.5334C>T (p.Tyr1778=)
|
|
|
NM_207361.6(FREM2):c.5340C>T (p.Val1780=)
|
|
|
NM_207361.6(FREM2):c.5361A>G (p.Leu1787=)
|
|
|
NM_207361.6(FREM2):c.5377C>T (p.Arg1793Cys)
|
|
|
NM_207361.6(FREM2):c.5379T>C (p.Arg1793=)
|
|
|
NM_207361.6(FREM2):c.5406T>C (p.Phe1802=)
|
|
|
NM_207361.6(FREM2):c.5410+14T>C
|
|
|
NM_207361.6(FREM2):c.5411-14A>G
|
|
|
NM_207361.6(FREM2):c.5411-15_5411-13del
|
|
|
NM_207361.6(FREM2):c.5411-17A>G
|
|
|
NM_207361.6(FREM2):c.5411-20_5411-18del
|
rs751990950
|
|
NM_207361.6(FREM2):c.5411-7del
|
|
|
NM_207361.6(FREM2):c.5411-9T>C
|
|
|
NM_207361.6(FREM2):c.5428dup (p.Arg1810fs)
|
|
|
NM_207361.6(FREM2):c.5433T>G (p.Thr1811=)
|
|
|
NM_207361.6(FREM2):c.5434G>A (p.Ala1812Thr)
|
rs749830746
|
|
NM_207361.6(FREM2):c.5454C>T (p.Phe1818=)
|
|
|
NM_207361.6(FREM2):c.5457G>A (p.Lys1819=)
|
|
|
NM_207361.6(FREM2):c.5493C>A (p.Gly1831=)
|
|
|
NM_207361.6(FREM2):c.5502G>A (p.Arg1834=)
|
|
|
NM_207361.6(FREM2):c.5508A>G (p.Thr1836=)
|
|
|
NM_207361.6(FREM2):c.552G>A (p.Arg184=)
|
|
|
NM_207361.6(FREM2):c.556T>C (p.Leu186=)
|
|
|
NM_207361.6(FREM2):c.5574A>C (p.Ser1858=)
|
rs1593396009
|
|
NM_207361.6(FREM2):c.5577G>A (p.Glu1859=)
|
|
|
NM_207361.6(FREM2):c.5581G>A (p.Val1861Met)
|
|
|
NM_207361.6(FREM2):c.5610C>A (p.Val1870=)
|
|
|
NM_207361.6(FREM2):c.5617G>A (p.Val1873Ile)
|
|
|
NM_207361.6(FREM2):c.5625C>A (p.Ile1875=)
|
|
|
NM_207361.6(FREM2):c.5625C>T (p.Ile1875=)
|
rs202007498
|
|
NM_207361.6(FREM2):c.5634A>G (p.Pro1878=)
|
|
|
NM_207361.6(FREM2):c.5641+10A>G
|
rs1593396074
|
|
NM_207361.6(FREM2):c.5641+12C>T
|
|
|
NM_207361.6(FREM2):c.5641+13G>A
|
|
|
NM_207361.6(FREM2):c.5641+17A>G
|
|
|
NM_207361.6(FREM2):c.5641+19T>C
|
|
|
NM_207361.6(FREM2):c.5642-10T>C
|
|
|
NM_207361.6(FREM2):c.5642-10T>G
|
|
|
NM_207361.6(FREM2):c.5642-13G>C
|
|
|
NM_207361.6(FREM2):c.5642-8C>T
|
|
|
NM_207361.6(FREM2):c.5642-9T>G
|
|
|
NM_207361.6(FREM2):c.5648C>A (p.Thr1883Asn)
|
|
|
NM_207361.6(FREM2):c.5656_5657del (p.Ile1886fs)
|
|
|
NM_207361.6(FREM2):c.5667C>G (p.Ser1889=)
|
|
|
NM_207361.6(FREM2):c.5676C>T (p.Ser1892=)
|
|
|
NM_207361.6(FREM2):c.5677G>T (p.Val1893Phe)
|
|
|
NM_207361.6(FREM2):c.567C>T (p.Val189=)
|
rs370371340
|
|
NM_207361.6(FREM2):c.5688T>C (p.Asp1896=)
|
|
|
NM_207361.6(FREM2):c.5697G>A (p.Glu1899=)
|
|
|
NM_207361.6(FREM2):c.5719del (p.Ser1907fs)
|
|
|
NM_207361.6(FREM2):c.5751C>G (p.Val1917=)
|
|
|
NM_207361.6(FREM2):c.5751_5754del (p.Cys1918fs)
|
|
|
NM_207361.6(FREM2):c.5763A>G (p.Gln1921=)
|
|
|
NM_207361.6(FREM2):c.5767+12T>G
|
|
|
NM_207361.6(FREM2):c.5767+14C>T
|
|
|
NM_207361.6(FREM2):c.5767+15C>T
|
|
|
NM_207361.6(FREM2):c.5767+16G>A
|
|
|
NM_207361.6(FREM2):c.5767+17A>G
|
|
|
NM_207361.6(FREM2):c.5767+295_5767+299del
|
rs141521145
|
|
NM_207361.6(FREM2):c.5767+7C>T
|
|
|
NM_207361.6(FREM2):c.5775A>T (p.Ala1925=)
|
|
|
NM_207361.6(FREM2):c.5784T>C (p.Thr1928=)
|
|
|
NM_207361.6(FREM2):c.5796C>T (p.Ser1932=)
|
|
|
NM_207361.6(FREM2):c.584G>A (p.Gly195Glu)
|
|
|
NM_207361.6(FREM2):c.5858A>G (p.Asp1953Gly)
|
rs794727814
|
|
NM_207361.6(FREM2):c.5871G>T (p.Arg1957=)
|
|
|
NM_207361.6(FREM2):c.5884C>T (p.Arg1962Trp)
|
|
|
NM_207361.6(FREM2):c.5886G>T (p.Arg1962=)
|
|
|
NM_207361.6(FREM2):c.5907T>A (p.Ser1969=)
|
|
|
NM_207361.6(FREM2):c.5913C>T (p.Tyr1971=)
|
|
|
NM_207361.6(FREM2):c.5917G>T (p.Glu1973Ter)
|
|
|
NM_207361.6(FREM2):c.5919G>A (p.Glu1973=)
|
rs1593406342
|
|
NM_207361.6(FREM2):c.5926del (p.Thr1976fs)
|
|
|
NM_207361.6(FREM2):c.5934T>C (p.His1978=)
|
|
|
NM_207361.6(FREM2):c.5937C>T (p.Val1979=)
|
|
|
NM_207361.6(FREM2):c.5940T>G (p.Leu1980=)
|
|
|
NM_207361.6(FREM2):c.5946C>G (p.Ser1982Arg)
|
rs2137831772
|
|
NM_207361.6(FREM2):c.5954dup (p.Met1985fs)
|
rs886043213
|
|
NM_207361.6(FREM2):c.5957G>A (p.Gly1986Glu)
|
|
|
NM_207361.6(FREM2):c.5960dup (p.Arg1988fs)
|
|
|
NM_207361.6(FREM2):c.5961A>G (p.Gly1987=)
|
|
|
NM_207361.6(FREM2):c.5962A>C (p.Arg1988=)
|
|
|
NM_207361.6(FREM2):c.5967C>T (p.Ile1989=)
|
|
|
NM_207361.6(FREM2):c.5982A>G (p.Pro1994=)
|
|
|
NM_207361.6(FREM2):c.5982del (p.Ala1996fs)
|
|
|
NM_207361.6(FREM2):c.5997A>G (p.Thr1999=)
|
|
|
NM_207361.6(FREM2):c.6000C>A (p.Ile2000=)
|
|
|
NM_207361.6(FREM2):c.6000C>T (p.Ile2000=)
|
|
|
NM_207361.6(FREM2):c.6003T>C (p.Val2001=)
|
|
|
NM_207361.6(FREM2):c.6019+11A>G
|
|
|
NM_207361.6(FREM2):c.6019+19G>C
|
|
|
NM_207361.6(FREM2):c.6019+7A>G
|
|
|
NM_207361.6(FREM2):c.6020-16G>T
|
|
|
NM_207361.6(FREM2):c.6020-6T>C
|
|
|
NM_207361.6(FREM2):c.6020-9T>A
|
|
|
NM_207361.6(FREM2):c.6021A>G (p.Glu2007=)
|
|
|
NM_207361.6(FREM2):c.6024C>T (p.Pro2008=)
|
|
|
NM_207361.6(FREM2):c.6039T>C (p.Gly2013=)
|
|
|
NM_207361.6(FREM2):c.604G>C (p.Ala202Pro)
|
|
|
NM_207361.6(FREM2):c.6051C>T (p.Tyr2017=)
|
rs760550771
|
|
NM_207361.6(FREM2):c.6058del (p.Asp2020fs)
|
|
|
NM_207361.6(FREM2):c.606G>A (p.Ala202=)
|
|
|
NM_207361.6(FREM2):c.6075T>C (p.Tyr2025=)
|
|
|
NM_207361.6(FREM2):c.6078G>A (p.Val2026=)
|
|
|
NM_207361.6(FREM2):c.6088G>C (p.Val2030Leu)
|
|
|
NM_207361.6(FREM2):c.6098C>T (p.Thr2033Met)
|
|
|
NM_207361.6(FREM2):c.6099G>A (p.Thr2033=)
|
|
|
NM_207361.6(FREM2):c.6112T>A (p.Ser2038Thr)
|
|
|
NM_207361.6(FREM2):c.6114C>T (p.Ser2038=)
|
|
|
NM_207361.6(FREM2):c.6117G>A (p.Lys2039=)
|
|
|
NM_207361.6(FREM2):c.6123T>C (p.Ser2041=)
|
|
|
NM_207361.6(FREM2):c.6127G>A (p.Val2043Ile)
|
|
|
NM_207361.6(FREM2):c.6129C>A (p.Val2043=)
|
|
|
NM_207361.6(FREM2):c.6129_6142dup (p.Arg2048delinsProGlnTer)
|
|
|
NM_207361.6(FREM2):c.613C>T (p.Leu205=)
|
|
|
NM_207361.6(FREM2):c.6169+15A>C
|
|
|
NM_207361.6(FREM2):c.6169+18C>T
|
|
|
NM_207361.6(FREM2):c.6169+19G>A
|
|
|
NM_207361.6(FREM2):c.6170-13G>A
|
|
|
NM_207361.6(FREM2):c.6170-4A>G
|
|
|
NM_207361.6(FREM2):c.6170-7G>A
|
|
|
NM_207361.6(FREM2):c.6177A>G (p.Thr2059=)
|
rs794727940
|
|
NM_207361.6(FREM2):c.6192C>T (p.Ile2064=)
|
|
|
NM_207361.6(FREM2):c.6196C>G (p.Arg2066Gly)
|
rs9548505
|
|
NM_207361.6(FREM2):c.6196C>T (p.Arg2066Cys)
|
rs9548505
|
|
NM_207361.6(FREM2):c.6198T>C (p.Arg2066=)
|
|
|
NM_207361.6(FREM2):c.6216T>C (p.Pro2072=)
|
|
|
NM_207361.6(FREM2):c.6225C>T (p.Asn2075=)
|
|
|
NM_207361.6(FREM2):c.6243T>C (p.Val2081=)
|
|
|
NM_207361.6(FREM2):c.6246C>T (p.Val2082=)
|
|
|
NM_207361.6(FREM2):c.6249T>C (p.Ile2083=)
|
|
|
NM_207361.6(FREM2):c.6258C>T (p.Asp2086=)
|
|
|
NM_207361.6(FREM2):c.6261T>G (p.Leu2087=)
|
|
|
NM_207361.6(FREM2):c.6273G>T (p.Ala2091=)
|
|
|
NM_207361.6(FREM2):c.6285T>C (p.Ile2095=)
|
|
|
NM_207361.6(FREM2):c.6292T>C (p.Phe2098Leu)
|
|
|
NM_207361.6(FREM2):c.630G>A (p.Gln210=)
|
|
|
NM_207361.6(FREM2):c.6321C>T (p.Asn2107=)
|
|
|
NM_207361.6(FREM2):c.6322dup (p.Ala2108fs)
|
|
|
NM_207361.6(FREM2):c.6327C>A (p.Ala2109=)
|
|
|
NM_207361.6(FREM2):c.6336G>A (p.Glu2112=)
|
|
|
NM_207361.6(FREM2):c.6350_6351del (p.Thr2117fs)
|
rs752032044
|
|
NM_207361.6(FREM2):c.636G>A (p.Glu212=)
|
|
|
NM_207361.6(FREM2):c.6375C>T (p.Ser2125=)
|
|
|
NM_207361.6(FREM2):c.6379+11A>G
|
|
|
NM_207361.6(FREM2):c.6379+15A>T
|
|
|
NM_207361.6(FREM2):c.6379+19del
|
|
|
NM_207361.6(FREM2):c.6379+20A>C
|
|
|
NM_207361.6(FREM2):c.6379+7G>A
|
|
|
NM_207361.6(FREM2):c.6379+9T>C
|
|
|
NM_207361.6(FREM2):c.6380-12T>C
|
|
|
NM_207361.6(FREM2):c.6380-14C>G
|
|
|
NM_207361.6(FREM2):c.6380-17A>G
|
|
|
NM_207361.6(FREM2):c.6380-5dup
|
|
|
NM_207361.6(FREM2):c.6380-9T>C
|
rs1002078315
|
|
NM_207361.6(FREM2):c.6381G>A (p.Leu2127=)
|
|
|
NM_207361.6(FREM2):c.6386dup (p.Met2130fs)
|
rs2137910357
|
|
NM_207361.6(FREM2):c.6387G>C (p.Lys2129Asn)
|
|
|
NM_207361.6(FREM2):c.6404G>A (p.Arg2135Gln)
|
|
|
NM_207361.6(FREM2):c.6411T>C (p.Tyr2137=)
|
|
|
NM_207361.6(FREM2):c.6416G>A (p.Gly2139Asp)
|
|
|
NM_207361.6(FREM2):c.6417C>T (p.Gly2139=)
|
|
|
NM_207361.6(FREM2):c.6420C>T (p.Ser2140=)
|
|
|
NM_207361.6(FREM2):c.6429T>C (p.Asp2143=)
|
|
|
NM_207361.6(FREM2):c.6432G>C (p.Gly2144=)
|
|
|
NM_207361.6(FREM2):c.6458C>A (p.Thr2153Asn)
|
|
|
NM_207361.6(FREM2):c.6458_6459delinsGC (p.Thr2153Ser)
|
rs35252750
|
|
NM_207361.6(FREM2):c.645G>A (p.Glu215=)
|
|
|
NM_207361.6(FREM2):c.6462G>A (p.Gly2154=)
|
|
|
NM_207361.6(FREM2):c.6468C>A (p.Val2156=)
|
|
|
NM_207361.6(FREM2):c.6490T>C (p.Cys2164Arg)
|
rs886042926
|
|
NM_207361.6(FREM2):c.6495C>T (p.Tyr2165=)
|
|
|
NM_207361.6(FREM2):c.6499C>A (p.Arg2167=)
|
|
|
NM_207361.6(FREM2):c.6507G>T (p.Gly2169=)
|
|
|
NM_207361.6(FREM2):c.6514C>G (p.Gln2172Glu)
|
|
|
NM_207361.6(FREM2):c.651C>G (p.Arg217=)
|
|
|
NM_207361.6(FREM2):c.6543A>T (p.Pro2181=)
|
|
|
NM_207361.6(FREM2):c.6547A>G (p.Thr2183Ala)
|
|
|
NM_207361.6(FREM2):c.6549T>C (p.Thr2183=)
|
|
|
NM_207361.6(FREM2):c.6555C>T (p.Thr2185=)
|
|
|
NM_207361.6(FREM2):c.6560T>A (p.Ile2187Asn)
|
|
|
NM_207361.6(FREM2):c.6561C>T (p.Ile2187=)
|
|
|
NM_207361.6(FREM2):c.6567A>G (p.Thr2189=)
|
|
|
NM_207361.6(FREM2):c.6573C>G (p.Leu2191=)
|
|
|
NM_207361.6(FREM2):c.6577+12C>G
|
|
|
NM_207361.6(FREM2):c.6577+18del
|
|
|
NM_207361.6(FREM2):c.6577+24del
|
rs748216447
|
|
NM_207361.6(FREM2):c.6578-14C>A
|
|
|
NM_207361.6(FREM2):c.6578-14C>T
|
|
|
NM_207361.6(FREM2):c.6578-15dup
|
|
|
NM_207361.6(FREM2):c.6578-16G>A
|
|
|
NM_207361.6(FREM2):c.6578-18C>A
|
|
|
NM_207361.6(FREM2):c.6578-7G>T
|
rs2137911376
|
|
NM_207361.6(FREM2):c.657C>T (p.Gly219=)
|
|
|
NM_207361.6(FREM2):c.6597C>A (p.Cys2199Ter)
|
|
|
NM_207361.6(FREM2):c.6597C>T (p.Cys2199=)
|
|
|
NM_207361.6(FREM2):c.6609G>A (p.Leu2203=)
|
|
|
NM_207361.6(FREM2):c.660C>A (p.Ile220=)
|
|
|
NM_207361.6(FREM2):c.6614A>G (p.Asp2205Gly)
|
|
|
NM_207361.6(FREM2):c.6630G>A (p.Glu2210=)
|
|
|
NM_207361.6(FREM2):c.6646C>T (p.Arg2216Cys)
|
|
|
NM_207361.6(FREM2):c.6654A>G (p.Val2218=)
|
|
|
NM_207361.6(FREM2):c.6657C>A (p.Leu2219=)
|
|
|
NM_207361.6(FREM2):c.6657C>T (p.Leu2219=)
|
|
|
NM_207361.6(FREM2):c.6660C>A (p.Gly2220=)
|
|
|
NM_207361.6(FREM2):c.6666A>G (p.Pro2222=)
|
|
|
NM_207361.6(FREM2):c.6674A>G (p.Asn2225Ser)
|
rs143576067
|
|
NM_207361.6(FREM2):c.6675C>T (p.Asn2225=)
|
|
|
NM_207361.6(FREM2):c.6690T>C (p.Ala2230=)
|
|
|
NM_207361.6(FREM2):c.6693A>G (p.Ala2231=)
|
|
|
NM_207361.6(FREM2):c.6693A>T (p.Ala2231=)
|
|
|
NM_207361.6(FREM2):c.66A>G (p.Pro22=)
|
|
|
NM_207361.6(FREM2):c.6716_6717del (p.Leu2239fs)
|
|
|
NM_207361.6(FREM2):c.6717C>G (p.Leu2239=)
|
|
|
NM_207361.6(FREM2):c.6717C>T (p.Leu2239=)
|
|
|
NM_207361.6(FREM2):c.6718A>G (p.Ile2240Val)
|
|
|
NM_207361.6(FREM2):c.6728G>A (p.Arg2243Gln)
|
|
|
NM_207361.6(FREM2):c.6732T>C (p.Asp2244=)
|
|
|
NM_207361.6(FREM2):c.6735T>C (p.Asp2245=)
|
|
|
NM_207361.6(FREM2):c.6742+11T>C
|
|
|
NM_207361.6(FREM2):c.6742+11T>G
|
|
|
NM_207361.6(FREM2):c.6742+12T>C
|
|
|
NM_207361.6(FREM2):c.6742+17T>C
|
|
|
NM_207361.6(FREM2):c.6742+17del
|
rs757565298
|
|
NM_207361.6(FREM2):c.6742+20T>G
|
|
|
NM_207361.6(FREM2):c.6743-13C>G
|
|
|
NM_207361.6(FREM2):c.6743-17G>A
|
|
|
NM_207361.6(FREM2):c.6743-4T>G
|
|
|
NM_207361.6(FREM2):c.6743-6T>C
|
|
|
NM_207361.6(FREM2):c.6744G>A (p.Lys2248=)
|
|
|
NM_207361.6(FREM2):c.6768C>G (p.Thr2256=)
|
|
|
NM_207361.6(FREM2):c.6780C>A (p.Val2260=)
|
|
|
NM_207361.6(FREM2):c.6780C>T (p.Val2260=)
|
|
|
NM_207361.6(FREM2):c.6784G>T (p.Glu2262Ter)
|
|
|
NM_207361.6(FREM2):c.6789C>G (p.Pro2263=)
|
|
|
NM_207361.6(FREM2):c.678_679del (p.Leu227fs)
|
|
|
NM_207361.6(FREM2):c.6799_6802dup (p.Glu2268fs)
|
|
|
NM_207361.6(FREM2):c.6806C>A (p.Ser2269Ter)
|
|
|
NM_207361.6(FREM2):c.6810G>A (p.Val2270=)
|
|
|
NM_207361.6(FREM2):c.6819A>C (p.Arg2273Ser)
|
|
|
NM_207361.6(FREM2):c.6828G>A (p.Val2276=)
|
|
|
NM_207361.6(FREM2):c.6837A>G (p.Gln2279=)
|
|
|
NM_207361.6(FREM2):c.6840A>G (p.Gly2280=)
|
|
|
NM_207361.6(FREM2):c.6849A>C (p.Ser2283=)
|
|
|
NM_207361.6(FREM2):c.685C>T (p.Arg229Cys)
|
|
|
NM_207361.6(FREM2):c.6861T>C (p.Ile2287=)
|
|
|
NM_207361.6(FREM2):c.6864G>T (p.Val2288=)
|
|
|
NM_207361.6(FREM2):c.6879G>A (p.Lys2293=)
|
|
|
NM_207361.6(FREM2):c.6897T>A (p.Ser2299=)
|
|
|
NM_207361.6(FREM2):c.689A>G (p.Tyr230Cys)
|
rs1869573182
|
|
NM_207361.6(FREM2):c.6903A>G (p.Glu2301=)
|
|
|
NM_207361.6(FREM2):c.6909C>T (p.Tyr2303=)
|
|
|
NM_207361.6(FREM2):c.6912C>T (p.His2304=)
|
|
|
NM_207361.6(FREM2):c.6915T>C (p.Pro2305=)
|
|
|
NM_207361.6(FREM2):c.6915T>G (p.Pro2305=)
|
|
|
NM_207361.6(FREM2):c.6918G>A (p.Val2306=)
|
|
|
NM_207361.6(FREM2):c.6925+14A>G
|
|
|
NM_207361.6(FREM2):c.6925+17G>A
|
|
|
NM_207361.6(FREM2):c.6925+17G>T
|
|
|
NM_207361.6(FREM2):c.6926-20C>A
|
|
|
NM_207361.6(FREM2):c.6926-60_6926-59del
|
rs34182165
|
|
NM_207361.6(FREM2):c.6926-9C>T
|
|
|
NM_207361.6(FREM2):c.6939G>A (p.Lys2313=)
|
|
|
NM_207361.6(FREM2):c.6945G>A (p.Gly2315=)
|
|
|
NM_207361.6(FREM2):c.6945G>C (p.Gly2315=)
|
|
|
NM_207361.6(FREM2):c.6947A>T (p.Glu2316Val)
|
rs2137916746
|
|
NM_207361.6(FREM2):c.6957C>T (p.His2319=)
|
|
|
NM_207361.6(FREM2):c.6958G>A (p.Val2320Met)
|
|
|
NM_207361.6(FREM2):c.6959T>G (p.Val2320Gly)
|
|
|
NM_207361.6(FREM2):c.6963T>C (p.Val2321=)
|
|
|
NM_207361.6(FREM2):c.6964G>T (p.Glu2322Ter)
|
|
|
NM_207361.6(FREM2):c.6969C>A (p.Ile2323=)
|
|
|
NM_207361.6(FREM2):c.6969C>T (p.Ile2323=)
|
|
|
NM_207361.6(FREM2):c.696A>G (p.Glu232=)
|
|
|
NM_207361.6(FREM2):c.6972A>G (p.Glu2324=)
|
|
|
NM_207361.6(FREM2):c.6984C>T (p.Asp2328=)
|
|
|
NM_207361.6(FREM2):c.7002_7005del (p.Glu2335fs)
|
rs768342700
|
|
NM_207361.6(FREM2):c.7005G>A (p.Glu2335=)
|
|
|
NM_207361.6(FREM2):c.7020C>T (p.His2340=)
|
|
|
NM_207361.6(FREM2):c.7021C>G (p.Leu2341Val)
|
|
|
NM_207361.6(FREM2):c.7044A>T (p.Ile2348=)
|
|
|
NM_207361.6(FREM2):c.7047A>G (p.Ala2349=)
|
|
|
NM_207361.6(FREM2):c.7050G>A (p.Glu2350=)
|
|
|
NM_207361.6(FREM2):c.7056+13A>G
|
|
|
NM_207361.6(FREM2):c.7056+15G>A
|
|
|
NM_207361.6(FREM2):c.7056+15_7056+17del
|
|
|
NM_207361.6(FREM2):c.7056+18T>A
|
|
|
NM_207361.6(FREM2):c.7057-13C>A
|
|
|
NM_207361.6(FREM2):c.7057-15G>C
|
|
|
NM_207361.6(FREM2):c.7057-15G>T
|
|
|
NM_207361.6(FREM2):c.7057-1G>A
|
|
|
NM_207361.6(FREM2):c.7057-20T>C
|
|
|
NM_207361.6(FREM2):c.7057-9T>C
|
|
|
NM_207361.6(FREM2):c.705C>T (p.His235=)
|
|
|
NM_207361.6(FREM2):c.7060_7066del (p.Thr2354fs)
|
|
|
NM_207361.6(FREM2):c.7065A>G (p.Lys2355=)
|
|
|
NM_207361.6(FREM2):c.7074G>C (p.Val2358=)
|
|
|
NM_207361.6(FREM2):c.7105dup (p.Val2369fs)
|
|
|
NM_207361.6(FREM2):c.710del (p.Pro237fs)
|
|
|
NM_207361.6(FREM2):c.711G>C (p.Pro237=)
|
|
|
NM_207361.6(FREM2):c.7136C>G (p.Ser2379Cys)
|
|
|
NM_207361.6(FREM2):c.7137C>T (p.Ser2379=)
|
|
|
NM_207361.6(FREM2):c.7149T>C (p.Tyr2383=)
|
|
|
NM_207361.6(FREM2):c.7161C>T (p.Ser2387=)
|
|
|
NM_207361.6(FREM2):c.7171G>A (p.Glu2391Lys)
|
|
|
NM_207361.6(FREM2):c.717C>G (p.Val239=)
|
|
|
NM_207361.6(FREM2):c.7182A>G (p.Glu2394=)
|
|
|
NM_207361.6(FREM2):c.7193G>T (p.Gly2398Val)
|
|
|
NM_207361.6(FREM2):c.7200T>G (p.Pro2400=)
|
|
|
NM_207361.6(FREM2):c.7209T>C (p.Cys2403=)
|
|
|
NM_207361.6(FREM2):c.720T>C (p.Pro240=)
|
|
|
NM_207361.6(FREM2):c.7215+13T>G
|
|
|
NM_207361.6(FREM2):c.7215+17C>A
|
|
|
NM_207361.6(FREM2):c.7215+17C>T
|
|
|
NM_207361.6(FREM2):c.7216-11G>A
|
|
|
NM_207361.6(FREM2):c.7216-16C>T
|
|
|
NM_207361.6(FREM2):c.7216-17T>C
|
|
|
NM_207361.6(FREM2):c.7216-20C>A
|
|
|
NM_207361.6(FREM2):c.7216-295G>A
|
rs8002781
|
|
NM_207361.6(FREM2):c.7216-300C>G
|
rs7982078
|
|
NM_207361.6(FREM2):c.7216-4G>T
|
|
|
NM_207361.6(FREM2):c.7221C>T (p.Cys2407=)
|
|
|
NM_207361.6(FREM2):c.7230A>G (p.Lys2410=)
|
|
|
NM_207361.6(FREM2):c.7242C>T (p.Tyr2414=)
|
|
|
NM_207361.6(FREM2):c.7257T>C (p.Ser2419=)
|
|
|
NM_207361.6(FREM2):c.7260C>T (p.Ile2420=)
|
|
|
NM_207361.6(FREM2):c.7264G>A (p.Ala2422Thr)
|
|
|
NM_207361.6(FREM2):c.7272G>A (p.Glu2424=)
|
|
|
NM_207361.6(FREM2):c.7293G>A (p.Thr2431=)
|
|
|
NM_207361.6(FREM2):c.7294C>T (p.Arg2432Trp)
|
|
|
NM_207361.6(FREM2):c.7306C>T (p.Leu2436=)
|
|
|
NM_207361.6(FREM2):c.7311T>A (p.Ile2437=)
|
|
|
NM_207361.6(FREM2):c.7319C>T (p.Pro2440Leu)
|
|
|
NM_207361.6(FREM2):c.7323G>C (p.Ala2441=)
|
|
|
NM_207361.6(FREM2):c.7326C>A (p.Gly2442=)
|
|
|
NM_207361.6(FREM2):c.7326C>T (p.Gly2442=)
|
|
|
NM_207361.6(FREM2):c.7329T>A (p.Pro2443=)
|
rs1303270704
|
|
NM_207361.6(FREM2):c.732A>G (p.Arg244=)
|
|
|
NM_207361.6(FREM2):c.7333G>A (p.Gly2445Ser)
|
|
|
NM_207361.6(FREM2):c.7338G>A (p.Val2446=)
|
|
|
NM_207361.6(FREM2):c.7344C>T (p.Ser2448=)
|
|
|
NM_207361.6(FREM2):c.735G>A (p.Glu245=)
|
|
|
NM_207361.6(FREM2):c.7362C>T (p.Asp2454=)
|
|
|
NM_207361.6(FREM2):c.7365C>T (p.Phe2455=)
|
|
|
NM_207361.6(FREM2):c.7368C>T (p.Asp2456=)
|
|
|
NM_207361.6(FREM2):c.7371C>T (p.Thr2457=)
|
|
|
NM_207361.6(FREM2):c.7378A>G (p.Thr2460Ala)
|
|
|
NM_207361.6(FREM2):c.7395C>T (p.Val2465=)
|
|
|
NM_207361.6(FREM2):c.741C>G (p.Gly247=)
|
rs1489880344
|
|
NM_207361.6(FREM2):c.7440C>T (p.Cys2480=)
|
|
|
NM_207361.6(FREM2):c.7461C>T (p.Thr2487=)
|
|
|
NM_207361.6(FREM2):c.7462A>G (p.Asn2488Asp)
|
rs1877687604
|
|
NM_207361.6(FREM2):c.7473A>G (p.Glu2491=)
|
rs1284840533
|
|
NM_207361.6(FREM2):c.7477_7478del (p.Leu2493fs)
|
|
|
NM_207361.6(FREM2):c.747G>A (p.Pro249=)
|
rs1218142894
|
|
NM_207361.6(FREM2):c.7490G>A (p.Ser2497Asn)
|
|
|
NM_207361.6(FREM2):c.7519+16T>C
|
|
|
NM_207361.6(FREM2):c.7519+18T>C
|
|
|
NM_207361.6(FREM2):c.7519+19C>T
|
|
|
NM_207361.6(FREM2):c.7520-10_7520-9insCT
|
rs1399473815
|
|
NM_207361.6(FREM2):c.7520-15T>G
|
|
|
NM_207361.6(FREM2):c.7520-16C>A
|
|
|
NM_207361.6(FREM2):c.7520-16_7520-15insG
|
rs1555272871
|
|
NM_207361.6(FREM2):c.7520-16_7520-15insGT
|
rs1555272871
|
|
NM_207361.6(FREM2):c.7520-16dup
|
|
|
NM_207361.6(FREM2):c.7520-17T>C
|
|
|
NM_207361.6(FREM2):c.7520-20T>G
|
|
|
NM_207361.6(FREM2):c.7520-4C>A
|
rs1385540267
|
|
NM_207361.6(FREM2):c.7520-5del
|
rs36084034
|
|
NM_207361.6(FREM2):c.7520-5dup
|
rs36084034
|
|
NM_207361.6(FREM2):c.7520-6_7520-2del
|
|
|
NM_207361.6(FREM2):c.7520-6_7520-5dup
|
rs36084034
|
|
NM_207361.6(FREM2):c.7520-7_7520-5dup
|
|
|
NM_207361.6(FREM2):c.7520-9T>A
|
|
|
NM_207361.6(FREM2):c.7520-9T>C
|
|
|
NM_207361.6(FREM2):c.7533C>T (p.Pro2511=)
|
|
|
NM_207361.6(FREM2):c.7545G>A (p.Gly2515=)
|
|
|
NM_207361.6(FREM2):c.7563G>A (p.Pro2521=)
|
|
|
NM_207361.6(FREM2):c.756C>A (p.Leu252=)
|
|
|
NM_207361.6(FREM2):c.7575A>G (p.Lys2525=)
|
|
|
NM_207361.6(FREM2):c.759G>A (p.Leu253=)
|
|
|
NM_207361.6(FREM2):c.7626C>T (p.Leu2542=)
|
|
|
NM_207361.6(FREM2):c.7629T>A (p.Thr2543=)
|
|
|
NM_207361.6(FREM2):c.7635A>G (p.Thr2545=)
|
|
|
NM_207361.6(FREM2):c.7651+12G>C
|
|
|
NM_207361.6(FREM2):c.7651+13G>C
|
|
|
NM_207361.6(FREM2):c.7651+16A>T
|
|
|
NM_207361.6(FREM2):c.7652-15T>C
|
|
|
NM_207361.6(FREM2):c.7652-17A>G
|
|
|
NM_207361.6(FREM2):c.7652-18G>T
|
|
|
NM_207361.6(FREM2):c.7652-19T>C
|
|
|
NM_207361.6(FREM2):c.7652-4A>G
|
|
|
NM_207361.6(FREM2):c.7652G>C (p.Gly2551Ala)
|
|
|
NM_207361.6(FREM2):c.7659C>A (p.Leu2553=)
|
|
|
NM_207361.6(FREM2):c.7662C>T (p.Pro2554=)
|
|
|
NM_207361.6(FREM2):c.7663G>T (p.Val2555Leu)
|
rs200997496
|
|
NM_207361.6(FREM2):c.7710T>G (p.Pro2570=)
|
|
|
NM_207361.6(FREM2):c.7750C>T (p.Leu2584=)
|
|
|
NM_207361.6(FREM2):c.7760C>T (p.Thr2587Ile)
|
|
|
NM_207361.6(FREM2):c.7761T>C (p.Thr2587=)
|
|
|
NM_207361.6(FREM2):c.777C>T (p.Phe259=)
|
|
|
NM_207361.6(FREM2):c.7782T>A (p.Gly2594=)
|
|
|
NM_207361.6(FREM2):c.7794T>C (p.Asp2598=)
|
|
|
NM_207361.6(FREM2):c.7817T>C (p.Ile2606Thr)
|
|
|
NM_207361.6(FREM2):c.7842C>T (p.Tyr2614=)
|
|
|
NM_207361.6(FREM2):c.7873C>A (p.Arg2625Ser)
|
rs115492820
|
|
NM_207361.6(FREM2):c.7875C>G (p.Arg2625=)
|
|
|
NM_207361.6(FREM2):c.7881C>T (p.Tyr2627=)
|
|
|
NM_207361.6(FREM2):c.7896A>C (p.Leu2632=)
|
|
|
NM_207361.6(FREM2):c.7917C>T (p.Phe2639=)
|
|
|
NM_207361.6(FREM2):c.7920T>G (p.Val2640=)
|
|
|
NM_207361.6(FREM2):c.7924T>C (p.Tyr2642His)
|
|
|
NM_207361.6(FREM2):c.795C>T (p.Arg265=)
|
|
|
NM_207361.6(FREM2):c.7983+12T>C
|
|
|
NM_207361.6(FREM2):c.7983+13A>G
|
|
|
NM_207361.6(FREM2):c.7983+13A>T
|
|
|
NM_207361.6(FREM2):c.7983+14A>G
|
|
|
NM_207361.6(FREM2):c.7983+16A>T
|
|
|
NM_207361.6(FREM2):c.7983+19T>G
|
|
|
NM_207361.6(FREM2):c.7983+20G>A
|
|
|
NM_207361.6(FREM2):c.7983+224_7983+226del
|
rs10554083
|
|
NM_207361.6(FREM2):c.7983+7A>T
|
|
|
NM_207361.6(FREM2):c.7983+9_7983+10insA
|
|
|
NM_207361.6(FREM2):c.7984-11del
|
|
|
NM_207361.6(FREM2):c.7984-15A>G
|
|
|
NM_207361.6(FREM2):c.7984-17T>A
|
|
|
NM_207361.6(FREM2):c.7984-18G>A
|
|
|
NM_207361.6(FREM2):c.7984-19T>G
|
|
|
NM_207361.6(FREM2):c.7986C>G (p.Val2662=)
|
|
|
NM_207361.6(FREM2):c.7995A>G (p.Leu2665=)
|
|
|
NM_207361.6(FREM2):c.8010G>A (p.Val2670=)
|
|
|
NM_207361.6(FREM2):c.8010G>T (p.Val2670=)
|
|
|
NM_207361.6(FREM2):c.8022C>T (p.Val2674=)
|
|
|
NM_207361.6(FREM2):c.8024C>T (p.Pro2675Leu)
|
rs1357205318
|
|
NM_207361.6(FREM2):c.8029T>C (p.Tyr2677His)
|
|
|
NM_207361.6(FREM2):c.8031T>C (p.Tyr2677=)
|
|
|
NM_207361.6(FREM2):c.8040C>T (p.Tyr2680=)
|
|
|
NM_207361.6(FREM2):c.8052C>T (p.Ser2684=)
|
|
|
NM_207361.6(FREM2):c.8055C>T (p.Pro2685=)
|
|
|
NM_207361.6(FREM2):c.8058G>C (p.Val2686=)
|
|
|
NM_207361.6(FREM2):c.8058G>T (p.Val2686=)
|
|
|
NM_207361.6(FREM2):c.807A>G (p.Thr269=)
|
|
|
NM_207361.6(FREM2):c.810C>A (p.Ala270=)
|
|
|
NM_207361.6(FREM2):c.8157C>G (p.Pro2719=)
|
|
|
NM_207361.6(FREM2):c.8159dup (p.Glu2721fs)
|
|
|
NM_207361.6(FREM2):c.8160A>G (p.Pro2720=)
|
|
|
NM_207361.6(FREM2):c.8166T>C (p.Ala2722=)
|
|
|
NM_207361.6(FREM2):c.8176+10G>A
|
|
|
NM_207361.6(FREM2):c.8176+16T>G
|
|
|
NM_207361.6(FREM2):c.8176+16_8176+17del
|
|
|
NM_207361.6(FREM2):c.8176+17T>C
|
|
|
NM_207361.6(FREM2):c.8176+9A>G
|
|
|
NM_207361.6(FREM2):c.8177-14T>C
|
|
|
NM_207361.6(FREM2):c.8177-16A>G
|
|
|
NM_207361.6(FREM2):c.8177-18G>A
|
|
|
NM_207361.6(FREM2):c.8177-20T>C
|
|
|
NM_207361.6(FREM2):c.8177-4A>T
|
rs755085783
|
|
NM_207361.6(FREM2):c.8177-5del
|
|
|
NM_207361.6(FREM2):c.8177-7A>G
|
|
|
NM_207361.6(FREM2):c.8177-8C>T
|
|
|
NM_207361.6(FREM2):c.8178T>C (p.Gly2726=)
|
|
|
NM_207361.6(FREM2):c.818G>A (p.Arg273His)
|
|
|
NM_207361.6(FREM2):c.81G>A (p.Pro27=)
|
|
|
NM_207361.6(FREM2):c.8201G>A (p.Arg2734His)
|
|
|
NM_207361.6(FREM2):c.8205C>T (p.Ile2735=)
|
|
|
NM_207361.6(FREM2):c.8206G>A (p.Gly2736Ser)
|
rs368732492
|
|
NM_207361.6(FREM2):c.8214G>A (p.Glu2738=)
|
|
|
NM_207361.6(FREM2):c.8238G>A (p.Lys2746=)
|
|
|
NM_207361.6(FREM2):c.8241A>G (p.Thr2747=)
|
|
|
NM_207361.6(FREM2):c.8247T>C (p.Ala2749=)
|
|
|
NM_207361.6(FREM2):c.8253C>T (p.Phe2751=)
|
|
|
NM_207361.6(FREM2):c.8256T>C (p.His2752=)
|
|
|
NM_207361.6(FREM2):c.8262A>G (p.Leu2754=)
|
|
|
NM_207361.6(FREM2):c.8268G>A (p.Val2756=)
|
|
|
NM_207361.6(FREM2):c.8269C>T (p.Leu2757=)
|
|
|
NM_207361.6(FREM2):c.8281+19_8281+20insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGCCCCGTTATCTTTT
|
|
|
NM_207361.6(FREM2):c.8281+23_8281+25del
|
|
|
NM_207361.6(FREM2):c.8281+9C>G
|
|
|
NM_207361.6(FREM2):c.8282-10A>G
|
|
|
NM_207361.6(FREM2):c.8282-5C>T
|
|
|
NM_207361.6(FREM2):c.8282-9C>T
|
|
|
NM_207361.6(FREM2):c.8283A>G (p.Ala2761=)
|
|
|
NM_207361.6(FREM2):c.8310A>G (p.Ser2770=)
|
|
|
NM_207361.6(FREM2):c.8325C>T (p.Gly2775=)
|
|
|
NM_207361.6(FREM2):c.8328G>C (p.Leu2776=)
|
|
|
NM_207361.6(FREM2):c.8341C>T (p.Arg2781Cys)
|
|
|
NM_207361.6(FREM2):c.8352G>A (p.Arg2784=)
|
|
|
NM_207361.6(FREM2):c.8358A>G (p.Glu2786=)
|
|
|
NM_207361.6(FREM2):c.8364C>T (p.Thr2788=)
|
|
|
NM_207361.6(FREM2):c.8376A>G (p.Pro2792=)
|
|
|
NM_207361.6(FREM2):c.837G>A (p.Trp279Ter)
|
|
|
NM_207361.6(FREM2):c.8381A>C (p.Gln2794Pro)
|
rs2137937738
|
|
NM_207361.6(FREM2):c.8382G>A (p.Gln2794=)
|
|
|
NM_207361.6(FREM2):c.8394T>C (p.Phe2798=)
|
|
|
NM_207361.6(FREM2):c.8409+15C>G
|
|
|
NM_207361.6(FREM2):c.8409+16T>A
|
|
|
NM_207361.6(FREM2):c.8409+16T>C
|
|
|
NM_207361.6(FREM2):c.8409+16T>G
|
|
|
NM_207361.6(FREM2):c.8409+17C>A
|
|
|
NM_207361.6(FREM2):c.8409+1G>A
|
|
|
NM_207361.6(FREM2):c.8409+24_8409+27del
|
|
|
NM_207361.6(FREM2):c.8409+8A>T
|
|
|
NM_207361.6(FREM2):c.8409+9C>T
|
|
|
NM_207361.6(FREM2):c.8409C>T (p.Ala2803=)
|
|
|
NM_207361.6(FREM2):c.8410-15A>G
|
|
|
NM_207361.6(FREM2):c.8410-7_8410-5del
|
|
|
NM_207361.6(FREM2):c.8418C>T (p.Asp2806=)
|
|
|
NM_207361.6(FREM2):c.8427G>A (p.Gly2809=)
|
|
|
NM_207361.6(FREM2):c.8445G>A (p.Leu2815=)
|
|
|
NM_207361.6(FREM2):c.8448G>C (p.Val2816=)
|
|
|
NM_207361.6(FREM2):c.8448G>T (p.Val2816=)
|
|
|
NM_207361.6(FREM2):c.8466A>C (p.Ser2822=)
|
|
|
NM_207361.6(FREM2):c.8466A>G (p.Ser2822=)
|
|
|
NM_207361.6(FREM2):c.8479C>T (p.Arg2827Cys)
|
|
|
NM_207361.6(FREM2):c.84C>T (p.Pro28=)
|
|
|
NM_207361.6(FREM2):c.850G>C (p.Val284Leu)
|
rs770004356
|
|
NM_207361.6(FREM2):c.8533C>T (p.Arg2845Ter)
|
|
|
NM_207361.6(FREM2):c.8544+17dup
|
|
|
NM_207361.6(FREM2):c.8544+18A>G
|
|
|
NM_207361.6(FREM2):c.8544+19C>T
|
|
|
NM_207361.6(FREM2):c.8544+2T>C
|
|
|
NM_207361.6(FREM2):c.8545-10T>G
|
|
|
NM_207361.6(FREM2):c.8545-12del
|
|
|
NM_207361.6(FREM2):c.8545-13C>T
|
|
|
NM_207361.6(FREM2):c.8545-14A>G
|
|
|
NM_207361.6(FREM2):c.8545-6T>C
|
|
|
NM_207361.6(FREM2):c.8547C>A (p.Val2849=)
|
|
|
NM_207361.6(FREM2):c.8556A>G (p.Pro2852=)
|
rs1593459578
|
|
NM_207361.6(FREM2):c.8575T>C (p.Leu2859=)
|
|
|
NM_207361.6(FREM2):c.8580C>T (p.Asn2860=)
|
|
|
NM_207361.6(FREM2):c.8587A>G (p.Met2863Val)
|
|
|
NM_207361.6(FREM2):c.8598C>A (p.Leu2866=)
|
|
|
NM_207361.6(FREM2):c.8612T>C (p.Leu2871Pro)
|
rs1566175991
|
|
NM_207361.6(FREM2):c.8617T>C (p.Leu2873=)
|
|
|
NM_207361.6(FREM2):c.8625T>C (p.Asp2875=)
|
|
|
NM_207361.6(FREM2):c.8640C>T (p.Phe2880=)
|
|
|
NM_207361.6(FREM2):c.8641G>A (p.Gly2881Arg)
|
|
|
NM_207361.6(FREM2):c.8643G>A (p.Gly2881=)
|
|
|
NM_207361.6(FREM2):c.8671+10T>C
|
|
|
NM_207361.6(FREM2):c.8671+12C>A
|
|
|
NM_207361.6(FREM2):c.8671+9T>G
|
|
|
NM_207361.6(FREM2):c.8672-10T>C
|
|
|
NM_207361.6(FREM2):c.8672-13A>T
|
|
|
NM_207361.6(FREM2):c.8672-16C>A
|
|
|
NM_207361.6(FREM2):c.8672-19T>G
|
|
|
NM_207361.6(FREM2):c.8672-20T>C
|
|
|
NM_207361.6(FREM2):c.8672-247T>C
|
rs7332206
|
|
NM_207361.6(FREM2):c.8672-7A>G
|
|
|
NM_207361.6(FREM2):c.8672-9C>G
|
|
|
NM_207361.6(FREM2):c.8673T>G (p.Gly2891=)
|
|
|
NM_207361.6(FREM2):c.8694C>T (p.Val2898=)
|
|
|
NM_207361.6(FREM2):c.8703T>C (p.Asp2901=)
|
|
|
NM_207361.6(FREM2):c.8724C>T (p.Asp2908=)
|
|
|
NM_207361.6(FREM2):c.8727C>A (p.Ser2909=)
|
|
|
NM_207361.6(FREM2):c.8727C>G (p.Ser2909=)
|
|
|
NM_207361.6(FREM2):c.8730T>C (p.Phe2910=)
|
|
|
NM_207361.6(FREM2):c.8745G>A (p.Glu2915=)
|
|
|
NM_207361.6(FREM2):c.8751G>T (p.Val2917=)
|
rs2137940198
|
|
NM_207361.6(FREM2):c.8760C>T (p.Cys2920=)
|
|
|
NM_207361.6(FREM2):c.8772T>C (p.Asp2924=)
|
|
|
NM_207361.6(FREM2):c.8778T>C (p.Tyr2926=)
|
|
|
NM_207361.6(FREM2):c.8787G>A (p.Lys2929=)
|
|
|
NM_207361.6(FREM2):c.879G>A (p.Val293=)
|
|
|
NM_207361.6(FREM2):c.87GCT[8] (p.Leu38_Ser39insLeu)
|
|
|
NM_207361.6(FREM2):c.8805A>G (p.Ala2935=)
|
|
|
NM_207361.6(FREM2):c.8814C>A (p.Gly2938=)
|
|
|
NM_207361.6(FREM2):c.8814C>T (p.Gly2938=)
|
|
|
NM_207361.6(FREM2):c.881G>A (p.Gly294Asp)
|
rs1869591293
|
|
NM_207361.6(FREM2):c.8823C>T (p.Ala2941=)
|
|
|
NM_207361.6(FREM2):c.8826C>T (p.Asp2942=)
|
|
|
NM_207361.6(FREM2):c.882C>A (p.Gly294=)
|
|
|
NM_207361.6(FREM2):c.8860-12T>C
|
|
|
NM_207361.6(FREM2):c.8860-14C>T
|
|
|
NM_207361.6(FREM2):c.8860-20A>G
|
|
|
NM_207361.6(FREM2):c.8860-9del
|
|
|
NM_207361.6(FREM2):c.8871G>A (p.Gln2957=)
|
|
|
NM_207361.6(FREM2):c.8877G>A (p.Glu2959=)
|
|
|
NM_207361.6(FREM2):c.8880A>G (p.Thr2960=)
|
|
|
NM_207361.6(FREM2):c.8882A>G (p.Gln2961Arg)
|
|
|
NM_207361.6(FREM2):c.8883del (p.Ala2962fs)
|
|
|
NM_207361.6(FREM2):c.8886G>A (p.Ala2962=)
|
|
|
NM_207361.6(FREM2):c.88C>T (p.Leu30=)
|
|
|
NM_207361.6(FREM2):c.8907A>G (p.Leu2969=)
|
|
|
NM_207361.6(FREM2):c.8916C>A (p.Ala2972=)
|
|
|
NM_207361.6(FREM2):c.8916C>T (p.Ala2972=)
|
|
|
NM_207361.6(FREM2):c.8922A>G (p.Leu2974=)
|
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NM_207361.6(FREM2):c.8933A>T (p.Asp2978Val)
|
|
|
NM_207361.6(FREM2):c.8943C>T (p.Ala2981=)
|
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|
NM_207361.6(FREM2):c.8964T>C (p.Pro2988=)
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|
NM_207361.6(FREM2):c.8976A>T (p.Gly2992=)
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|
NM_207361.6(FREM2):c.8985C>G (p.Val2995=)
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NM_207361.6(FREM2):c.8985C>T (p.Val2995=)
|
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NM_207361.6(FREM2):c.8988C>T (p.Asp2996=)
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NM_207361.6(FREM2):c.9006+12del
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NM_207361.6(FREM2):c.9006+16G>A
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NM_207361.6(FREM2):c.9006+17C>T
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NM_207361.6(FREM2):c.9006+18T>C
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NM_207361.6(FREM2):c.9006+7del
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NM_207361.6(FREM2):c.9007-14G>C
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NM_207361.6(FREM2):c.9007-17A>C
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NM_207361.6(FREM2):c.9007-18T>G
|
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NM_207361.6(FREM2):c.9007-6T>C
|
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NM_207361.6(FREM2):c.900C>T (p.Arg300=)
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|
|
NM_207361.6(FREM2):c.9013C>T (p.Leu3005=)
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NM_207361.6(FREM2):c.9019C>T (p.Arg3007Ter)
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|
|
NM_207361.6(FREM2):c.9039G>A (p.Thr3013=)
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|
NM_207361.6(FREM2):c.9039G>T (p.Thr3013=)
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|
|
NM_207361.6(FREM2):c.9042C>A (p.Ile3014=)
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|
|
NM_207361.6(FREM2):c.9056C>T (p.Ser3019Leu)
|
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|
NM_207361.6(FREM2):c.9057G>A (p.Ser3019=)
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|
|
NM_207361.6(FREM2):c.905_906del (p.His302fs)
|
|
|
NM_207361.6(FREM2):c.9084C>A (p.Gly3028=)
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|
NM_207361.6(FREM2):c.9084C>G (p.Gly3028=)
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|
|
NM_207361.6(FREM2):c.9092G>A (p.Ser3031Asn)
|
|
|
NM_207361.6(FREM2):c.909C>T (p.Phe303=)
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|
|
NM_207361.6(FREM2):c.9111G>A (p.Leu3037=)
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|
|
NM_207361.6(FREM2):c.9126G>A (p.Lys3042=)
|
|
|
NM_207361.6(FREM2):c.9129C>T (p.Pro3043=)
|
|
|
NM_207361.6(FREM2):c.9132A>G (p.Gln3044=)
|
|
|
NM_207361.6(FREM2):c.9140C>A (p.Thr3047Asn)
|
|
|
NM_207361.6(FREM2):c.9171C>T (p.Ser3057=)
|
|
|
NM_207361.6(FREM2):c.9181C>T (p.Leu3061=)
|
|
|
NM_207361.6(FREM2):c.9186A>C (p.Ala3062=)
|
|
|
NM_207361.6(FREM2):c.9186A>G (p.Ala3062=)
|
|
|
NM_207361.6(FREM2):c.9186A>T (p.Ala3062=)
|
|
|
NM_207361.6(FREM2):c.9192G>A (p.Glu3064=)
|
|
|
NM_207361.6(FREM2):c.91C>T (p.Leu31=)
|
|
|
NM_207361.6(FREM2):c.9222C>T (p.Asn3074=)
|
|
|
NM_207361.6(FREM2):c.9226C>A (p.Gln3076Lys)
|
rs748307174
|
|
NM_207361.6(FREM2):c.9239T>C (p.Leu3080Pro)
|
rs2137942953
|
|
NM_207361.6(FREM2):c.9240G>A (p.Leu3080=)
|
|
|
NM_207361.6(FREM2):c.9243C>T (p.Asp3081=)
|
|
|
NM_207361.6(FREM2):c.9245G>A (p.Arg3082His)
|
|
|
NM_207361.6(FREM2):c.9249C>A (p.Thr3083=)
|
|
|
NM_207361.6(FREM2):c.9249C>G (p.Thr3083=)
|
|
|
NM_207361.6(FREM2):c.9249C>T (p.Thr3083=)
|
|
|
NM_207361.6(FREM2):c.9252G>A (p.Lys3084=)
|
|
|
NM_207361.6(FREM2):c.9264C>T (p.Pro3088=)
|
|
|
NM_207361.6(FREM2):c.9267T>C (p.His3089=)
|
|
|
NM_207361.6(FREM2):c.9279T>C (p.Pro3093=)
|
|
|
NM_207361.6(FREM2):c.9294C>T (p.Leu3098=)
|
|
|
NM_207361.6(FREM2):c.9316A>G (p.Ser3106Gly)
|
|
|
NM_207361.6(FREM2):c.9324A>G (p.Ala3108=)
|
|
|
NM_207361.6(FREM2):c.9345G>A (p.Val3115=)
|
|
|
NM_207361.6(FREM2):c.9346G>A (p.Gly3116Arg)
|
|
|
NM_207361.6(FREM2):c.9348A>G (p.Gly3116=)
|
|
|
NM_207361.6(FREM2):c.9357G>A (p.Thr3119=)
|
|
|
NM_207361.6(FREM2):c.9357G>C (p.Thr3119=)
|
rs41306664
|
|
NM_207361.6(FREM2):c.9375C>T (p.Ile3125=)
|
|
|
NM_207361.6(FREM2):c.9396G>T (p.Val3132=)
|
|
|
NM_207361.6(FREM2):c.9397C>T (p.Leu3133=)
|
|
|
NM_207361.6(FREM2):c.939C>T (p.Ala313=)
|
|
|
NM_207361.6(FREM2):c.93G>A (p.Leu31=)
|
|
|
NM_207361.6(FREM2):c.9415G>A (p.Glu3139Lys)
|
|
|
NM_207361.6(FREM2):c.9424A>C (p.Arg3142=)
|
|
|
NM_207361.6(FREM2):c.9438C>A (p.Ala3146=)
|
|
|
NM_207361.6(FREM2):c.9438C>G (p.Ala3146=)
|
|
|
NM_207361.6(FREM2):c.9441G>A (p.Pro3147=)
|
|
|
NM_207361.6(FREM2):c.9452G>C (p.Ser3151Thr)
|
|
|
NM_207361.6(FREM2):c.9456C>T (p.Ser3152=)
|
|
|
NM_207361.6(FREM2):c.9465C>A (p.Pro3155=)
|
|
|
NM_207361.6(FREM2):c.9465C>T (p.Pro3155=)
|
|
|
NM_207361.6(FREM2):c.948T>C (p.Thr316=)
|
|
|
NM_207361.6(FREM2):c.9500C>T (p.Ser3167Leu)
|
|
|
NM_207361.6(FREM2):c.9501A>G (p.Ser3167=)
|
|
|
NM_207361.6(FREM2):c.956A>T (p.Lys319Met)
|
|
|
NM_207361.6(FREM2):c.973A>G (p.Met325Val)
|
|
|
NM_207361.6(FREM2):c.996G>A (p.Gln332=)
|
|
|
NM_207361.6(FREM2):c.996G>C (p.Gln332His)
|
|
|