NM_000140.5(FECH):c.*2526T>C
|
rs2723680
|
0.99842
|
NM_000140.5(FECH):c.*2825A>G
|
rs8090261
|
0.99840
|
NM_000140.5(FECH):c.314+23A>G
|
rs577152
|
0.98504
|
NM_000140.5(FECH):c.*4563G>T
|
rs663774
|
0.76588
|
NM_000140.5(FECH):c.921A>G (p.Pro307=)
|
rs536560
|
0.74784
|
NM_000140.5(FECH):c.705+211A>G
|
rs1736439
|
0.59106
|
NM_000140.5(FECH):c.804+123A>G
|
rs1736440
|
0.59036
|
NM_000140.5(FECH):c.599-255G>A
|
rs3817726
|
0.58495
|
NM_000140.5(FECH):c.706-198T>C
|
rs1646594
|
0.52341
|
NM_000140.5(FECH):c.*1287T>A
|
rs113654252
|
0.36364
|
NM_000140.5(FECH):c.315-279T>G
|
rs71355627
|
0.26978
|
NM_000140.5(FECH):c.*4886T>G
|
rs7238897
|
0.26760
|
NM_000140.5(FECH):c.*248C>T
|
rs8339
|
0.21849
|
NM_000140.5(FECH):c.912+94T>A
|
rs28617328
|
0.15827
|
NM_000140.5(FECH):c.195-111A>G
|
rs35655063
|
0.14186
|
NM_000140.5(FECH):c.*2446G>T
|
rs4940895
|
0.12042
|
NM_000140.5(FECH):c.194+187G>A
|
rs71355630
|
0.11943
|
NM_000140.5(FECH):c.*3377G>T
|
rs480942
|
0.11174
|
NM_000140.5(FECH):c.287G>A (p.Arg96Gln)
|
rs1041951
|
0.10933
|
NM_000140.5(FECH):c.*2371T>G
|
rs1062010
|
0.10588
|
NM_000140.5(FECH):c.1138-61G>A
|
rs12957678
|
0.10159
|
NM_000140.5(FECH):c.1077+117_1077+123del
|
rs58628398
|
0.10154
|
NM_000140.5(FECH):c.913-62_913-61del
|
rs60626363
|
0.10134
|
NM_000140.5(FECH):c.804+263A>G
|
rs9956673
|
0.10093
|
NM_000140.5(FECH):c.464-299A>T
|
rs58442256
|
0.09634
|
NM_000140.5(FECH):c.598+301G>A
|
rs2269222
|
0.08954
|
NM_000140.5(FECH):c.1077+252T>C
|
rs72627248
|
0.08211
|
NM_000140.5(FECH):c.315-48T>C
|
rs2272783
|
0.06200
|
NM_000140.5(FECH):c.913-43A>C
|
rs28451199
|
0.04371
|
NM_000140.5(FECH):c.599-112C>G
|
rs9963013
|
0.04274
|
NM_000140.5(FECH):c.194+306C>T
|
rs73436947
|
0.03650
|
NM_000140.5(FECH):c.*2739T>C
|
rs111695226
|
0.03343
|
NM_000140.5(FECH):c.804+279T>C
|
rs111761849
|
0.03163
|
NM_000140.5(FECH):c.*4463A>G
|
rs7228449
|
0.03133
|
NM_000140.5(FECH):c.*3601A>G
|
rs73453635
|
0.02742
|
NM_000140.5(FECH):c.194+43C>T
|
rs61202988
|
0.02500
|
NM_000140.5(FECH):c.*117C>T
|
rs8099115
|
0.02200
|
NM_000140.5(FECH):c.*4971A>G
|
rs114530851
|
0.02076
|
NM_000140.5(FECH):c.*2451T>G
|
rs55769459
|
0.01725
|
NM_000140.5(FECH):c.*1622T>C
|
rs78359676
|
0.01713
|
NM_000140.5(FECH):c.*696C>T
|
rs76175837
|
0.01710
|
NM_000140.5(FECH):c.*422T>A
|
rs3760612
|
0.01705
|
NM_000140.5(FECH):c.*481A>G
|
rs3760613
|
0.01701
|
NM_000140.5(FECH):c.*5588G>A
|
rs78224804
|
0.01585
|
NM_000140.5(FECH):c.*571G>A
|
rs114617188
|
0.01460
|
NM_000140.5(FECH):c.*892T>C
|
rs13271
|
0.01039
|
NM_000140.5(FECH):c.*5801T>G
|
rs139119026
|
0.00849
|
NM_000140.5(FECH):c.*4106A>G
|
rs72940306
|
0.00744
|
NM_000140.5(FECH):c.*5394G>T
|
rs145935279
|
0.00711
|
NM_000140.5(FECH):c.463+43C>T
|
rs73959100
|
0.00654
|
NM_000140.5(FECH):c.*4458C>T
|
rs113000324
|
0.00623
|
NM_000140.5(FECH):c.*3841C>T
|
rs143797631
|
0.00586
|
NM_000140.5(FECH):c.*4883_*4884insC
|
rs201434287
|
0.00582
|
NM_000140.5(FECH):c.*2441G>T
|
rs886053982
|
0.00424
|
NM_000140.5(FECH):c.*1479T>C
|
rs112062178
|
0.00287
|
NM_000140.5(FECH):c.*3567G>A
|
rs556538397
|
0.00273
|
NM_000140.5(FECH):c.1077+35C>T
|
rs77695117
|
0.00243
|
NM_000140.5(FECH):c.*4597T>C
|
rs147684323
|
0.00237
|
NM_000140.5(FECH):c.*2788G>A
|
rs145954113
|
0.00234
|
NM_000140.5(FECH):c.*936C>T
|
rs144709743
|
0.00200
|
NM_000140.5(FECH):c.*347G>A
|
rs113392534
|
0.00192
|
NM_000140.5(FECH):c.183A>G (p.Gln61=)
|
rs76286732
|
0.00177
|
NM_000140.5(FECH):c.705+19G>C
|
rs202119041
|
0.00176
|
NM_000140.5(FECH):c.*4056C>T
|
rs181920623
|
0.00166
|
NM_000140.5(FECH):c.*3339G>A
|
rs113928110
|
0.00159
|
NM_000140.5(FECH):c.185C>G (p.Pro62Arg)
|
rs150830931
|
0.00124
|
NM_000140.5(FECH):c.*4367C>T
|
rs146417207
|
0.00112
|
NM_000140.5(FECH):c.801G>A (p.Met267Ile)
|
rs118204037
|
0.00108
|
NM_000140.5(FECH):c.*3804G>A
|
rs190604320
|
0.00107
|
NM_000140.5(FECH):c.*4829C>T
|
rs565989254
|
0.00093
|
NM_000140.5(FECH):c.598+12T>A
|
rs370521491
|
0.00071
|
NM_000140.5(FECH):c.*1915G>T
|
rs148459563
|
0.00067
|
NM_000140.5(FECH):c.1146C>T (p.Ala382=)
|
rs146918011
|
0.00058
|
NM_000140.5(FECH):c.*4445G>A
|
rs578202706
|
0.00053
|
NM_000140.5(FECH):c.1176C>T (p.Asn392=)
|
rs369783027
|
0.00051
|
NM_000140.5(FECH):c.*1508G>A
|
rs540286571
|
0.00048
|
NM_000140.5(FECH):c.*1567A>G
|
rs574153215
|
0.00044
|
NM_000140.5(FECH):c.362A>G (p.Glu121Gly)
|
rs141813907
|
0.00043
|
NM_000140.5(FECH):c.*1032G>A
|
rs140863287
|
0.00034
|
NM_000140.5(FECH):c.*2443T>G
|
rs201834035
|
0.00034
|
NM_000140.5(FECH):c.*394C>G
|
rs781751487
|
0.00024
|
NM_000140.5(FECH):c.*4077C>T
|
rs548648988
|
0.00024
|
NM_000140.5(FECH):c.913-5C>T
|
rs201484053
|
0.00024
|
NM_000140.5(FECH):c.913-13A>G
|
rs200538834
|
0.00022
|
NM_000140.5(FECH):c.*1054T>C
|
rs192343321
|
0.00020
|
NM_000140.5(FECH):c.*2644A>G
|
rs558443758
|
0.00016
|
NM_000140.5(FECH):c.*4720T>C
|
rs760022638
|
0.00016
|
NM_000140.5(FECH):c.132C>T (p.Ala44=)
|
rs147500247
|
0.00015
|
NM_000140.5(FECH):c.*2450_*2451insG
|
rs886053980
|
0.00014
|
NM_000140.5(FECH):c.139A>G (p.Thr47Ala)
|
rs144831860
|
0.00014
|
NM_000140.5(FECH):c.599-13C>G
|
rs370770399
|
0.00014
|
NM_000140.5(FECH):c.819C>T (p.Gly273=)
|
rs138840143
|
0.00013
|
NM_000140.5(FECH):c.*2079C>T
|
rs886053983
|
0.00011
|
NM_000140.5(FECH):c.*2782G>T
|
rs886053975
|
0.00011
|
NM_000140.5(FECH):c.385G>A (p.Gly129Arg)
|
rs138714094
|
0.00010
|
NM_000140.5(FECH):c.*1950A>G
|
rs886053985
|
0.00009
|
NM_000140.5(FECH):c.*1966G>T
|
rs779669357
|
0.00009
|
NM_000140.5(FECH):c.*3691C>T
|
rs148141502
|
0.00008
|
NM_000140.5(FECH):c.*5349C>T
|
rs189146107
|
0.00007
|
NM_000140.5(FECH):c.820G>A (p.Asp274Asn)
|
rs146269992
|
0.00007
|
NM_000140.5(FECH):c.959A>G (p.Lys320Arg)
|
rs371224528
|
0.00007
|
NM_000140.5(FECH):c.1001C>T (p.Pro334Leu)
|
rs150146721
|
0.00006
|
NM_000140.5(FECH):c.*2060C>T
|
rs886053984
|
0.00005
|
NM_000140.5(FECH):c.*2600G>A
|
rs886053976
|
0.00005
|
NM_000140.5(FECH):c.*3716C>T
|
rs567960865
|
0.00005
|
NM_000140.5(FECH):c.*4449A>G
|
rs886053968
|
0.00005
|
NM_000140.5(FECH):c.*5247T>C
|
rs375220859
|
0.00005
|
NM_000140.5(FECH):c.*2599C>T
|
rs886053977
|
0.00004
|
NM_000140.5(FECH):c.*3656C>T
|
rs886053974
|
0.00004
|
NM_000140.5(FECH):c.*4528C>T
|
rs564734119
|
0.00004
|
NM_000140.5(FECH):c.*60T>C
|
rs886053996
|
0.00004
|
NM_000140.5(FECH):c.1147G>A (p.Asp383Asn)
|
rs769047929
|
0.00004
|
NM_000140.5(FECH):c.843C>T (p.Ser281=)
|
rs578140170
|
0.00004
|
NM_000140.5(FECH):c.*2513G>A
|
rs886053978
|
0.00003
|
NM_000140.5(FECH):c.*3719C>T
|
rs886053973
|
0.00003
|
NM_000140.5(FECH):c.*3788A>G
|
rs886053971
|
0.00003
|
NM_000140.5(FECH):c.*4336A>G
|
rs769571284
|
0.00003
|
NM_000140.5(FECH):c.*4337G>A
|
rs747976113
|
0.00003
|
NM_000140.5(FECH):c.*4363G>A
|
rs375097125
|
0.00003
|
NM_000140.5(FECH):c.1231T>G (p.Cys411Gly)
|
rs146899669
|
0.00003
|
NM_000140.5(FECH):c.202A>G (p.Lys68Glu)
|
rs756377185
|
0.00003
|
NM_000140.5(FECH):c.314+2T>G
|
rs149067146
|
0.00003
|
NM_000140.5(FECH):c.606C>T (p.Ser202=)
|
rs749644094
|
0.00003
|
NM_000140.5(FECH):c.913G>T (p.Val305Phe)
|
rs765518889
|
0.00002
|
NM_000140.3(FECH):c.1078_1137del
|
rs879255507
|
0.00001
|
NM_000140.5(FECH):c.*4237A>G
|
rs886053969
|
0.00001
|
NM_000140.5(FECH):c.*443A>C
|
rs886053994
|
0.00001
|
NM_000140.5(FECH):c.*55C>T
|
rs886053997
|
0.00001
|
NM_000140.5(FECH):c.1078-6A>G
|
rs2050796264
|
0.00001
|
NM_000140.5(FECH):c.1213C>T (p.Leu405Phe)
|
rs371363582
|
0.00001
|
NM_000140.5(FECH):c.1217G>A (p.Cys406Tyr)
|
rs1324421474
|
0.00001
|
NM_000140.5(FECH):c.346A>C (p.Thr116Pro)
|
rs1422688348
|
0.00001
|
NM_000140.5(FECH):c.514G>A (p.Glu172Lys)
|
rs200650502
|
0.00001
|
NM_000140.5(FECH):c.599-2A>G
|
rs980047540
|
0.00001
|
NM_000140.5(FECH):c.599-3C>T
|
rs765069812
|
0.00001
|
NM_000140.5(FECH):c.854A>G (p.Gln285Arg)
|
rs370708663
|
0.00001
|
NM_000140.5(FECH):c.912+14A>G
|
rs886053999
|
0.00001
|
NM_000140.5(FECH):c.935G>T (p.Gly312Val)
|
rs886053998
|
0.00001
|
NC_000018.9:g.(?_55217944)_(55230232_?)del
|
|
|
NC_000018.9:g.(?_55222057)_(55225777_?)del
|
|
|
NC_000018.9:g.(?_55225777)_(55226495_?)del
|
|
|
NC_000018.9:g.(?_55233659)_(55240617_?)del
|
|
|
NC_000018.9:g.(?_55238604)_(55240617_?)del
|
|
|
NC_000018.9:g.(?_55253766)_(55254103_?)del
|
|
|
NM_000140.3(FECH):c.[1224T>A;1225C>T;1231T>G]
|
|
|
NM_000140.5(FECH):c.*1039G>A
|
rs185134664
|
|
NM_000140.5(FECH):c.*1071C>G
|
rs886053992
|
|
NM_000140.5(FECH):c.*1170T>A
|
rs886053991
|
|
NM_000140.5(FECH):c.*1170_*1176delinsAAATCTTCTATGTTTGTATTACTCTCTGGTAA
|
rs886053988
|
|
NM_000140.5(FECH):c.*1173A>T
|
rs868017208
|
|
NM_000140.5(FECH):c.*1175G>A
|
rs886053990
|
|
NM_000140.5(FECH):c.*1176G>A
|
rs886053989
|
|
NM_000140.5(FECH):c.*1287_*1288insTA
|
rs59569925
|
|
NM_000140.5(FECH):c.*1287_*1288insTTTA
|
rs59569925
|
|
NM_000140.5(FECH):c.*1348T>G
|
rs886053987
|
|
NM_000140.5(FECH):c.*136G>C
|
rs886053995
|
|
NM_000140.5(FECH):c.*1453T>C
|
rs886053986
|
|
NM_000140.5(FECH):c.*2436GTTTT[2]
|
rs886053981
|
|
NM_000140.5(FECH):c.*2451_*2452insG
|
rs1555678907
|
|
NM_000140.5(FECH):c.*2459_*2461dup
|
rs529946604
|
|
NM_000140.5(FECH):c.*2461dup
|
rs529946604
|
|
NM_000140.5(FECH):c.*2840C>T
|
rs568628377
|
|
NM_000140.5(FECH):c.*3753_*3754insT
|
rs886053972
|
|
NM_000140.5(FECH):c.*3976C>T
|
rs886053970
|
|
NM_000140.5(FECH):c.*4368G>A
|
rs543603003
|
|
NM_000140.5(FECH):c.*4598T>G
|
rs886053967
|
|
NM_000140.5(FECH):c.*4793TTA[1]
|
rs137860528
|
|
NM_000140.5(FECH):c.*4891dup
|
rs146687823
|
|
NM_000140.5(FECH):c.*5628C>A
|
rs13732
|
|
NM_000140.5(FECH):c.*592C>T
|
rs577112809
|
|
NM_000140.5(FECH):c.*825T>C
|
rs886053993
|
|
NM_000140.5(FECH):c.1025_1026del (p.Ile342fs)
|
|
|
NM_000140.5(FECH):c.1032G>A (p.Thr344=)
|
|
|
NM_000140.5(FECH):c.1037A>G (p.Tyr346Cys)
|
|
|
NM_000140.5(FECH):c.1049_1052dup (p.Glu351fs)
|
|
|
NM_000140.5(FECH):c.104G>A (p.Arg35Lys)
|
|
|
NM_000140.5(FECH):c.1077+12C>T
|
|
|
NM_000140.5(FECH):c.1077+1G>A
|
rs786205245
|
|
NM_000140.5(FECH):c.1077+1del
|
|
|
NM_000140.5(FECH):c.1077G>A (p.Glu359=)
|
|
|
NM_000140.5(FECH):c.1078-11A>T
|
|
|
NM_000140.5(FECH):c.1078-1G>A
|
|
|
NM_000140.5(FECH):c.1078-51del
|
rs57800921
|
|
NM_000140.5(FECH):c.1085T>G (p.Val362Gly)
|
rs118204040
|
|
NM_000140.5(FECH):c.112T>G (p.Ser38Ala)
|
rs2051255745
|
|
NM_000140.5(FECH):c.1136A>G (p.Lys379Arg)
|
|
|
NM_000140.5(FECH):c.1136del (p.Lys379fs)
|
rs764466739
|
|
NM_000140.5(FECH):c.1137+16C>A
|
|
|
NM_000140.5(FECH):c.1137+16C>T
|
|
|
NM_000140.5(FECH):c.1137+18A>T
|
|
|
NM_000140.5(FECH):c.1137+2T>G
|
|
|
NM_000140.5(FECH):c.1137+3A>G
|
rs202147607
|
|
NM_000140.5(FECH):c.1137+8del
|
|
|
NM_000140.5(FECH):c.1138-6T>A
|
|
|
NM_000140.5(FECH):c.1138-9A>G
|
|
|
NM_000140.5(FECH):c.1152G>A (p.Leu384=)
|
|
|
NM_000140.5(FECH):c.115G>A (p.Gly39Ser)
|
|
|
NM_000140.5(FECH):c.117T>C (p.Gly39=)
|
|
|
NM_000140.5(FECH):c.1250T>C (p.Phe417Ser)
|
rs118204039
|
|
NM_000140.5(FECH):c.1253T>G (p.Phe418Cys)
|
rs767086949
|
|
NM_000140.5(FECH):c.1264C>T (p.Gln422Ter)
|
|
|
NM_000140.5(FECH):c.132C>G (p.Ala44=)
|
|
|
NM_000140.5(FECH):c.140C>G (p.Thr47Arg)
|
|
|
NM_000140.5(FECH):c.155A>T (p.His52Leu)
|
rs1413953115
|
|
NM_000140.5(FECH):c.161A>G (p.Gln54Arg)
|
|
|
NM_000140.5(FECH):c.163G>A (p.Gly55Ser)
|
rs3848519
|
|
NM_000140.5(FECH):c.163G>T (p.Gly55Cys)
|
rs3848519
|
|
NM_000140.5(FECH):c.175C>T (p.Gln59Ter)
|
rs2051253130
|
|
NM_000140.5(FECH):c.181C>T (p.Gln61Ter)
|
rs2122357230
|
|
NM_000140.5(FECH):c.186G>A (p.Pro62=)
|
|
|
NM_000140.5(FECH):c.194+11A>G
|
rs786205247
|
|
NM_000140.5(FECH):c.194+20T>C
|
|
|
NM_000140.5(FECH):c.194+7G>A
|
|
|
NM_000140.5(FECH):c.195-11A>G
|
|
|
NM_000140.5(FECH):c.195-4A>G
|
|
|
NM_000140.5(FECH):c.201G>A (p.Pro67=)
|
rs148440941
|
|
NM_000140.5(FECH):c.215dup (p.Leu72fs)
|
|
|
NM_000140.5(FECH):c.229G>A (p.Gly77Arg)
|
rs2051141708
|
|
NM_000140.5(FECH):c.232G>A (p.Gly78Ser)
|
|
|
NM_000140.5(FECH):c.253dup (p.Val85fs)
|
rs2122329859
|
|
NM_000140.5(FECH):c.258C>T (p.His86=)
|
|
|
NM_000140.5(FECH):c.286C>T (p.Arg96Ter)
|
rs984041251
|
|
NM_000140.5(FECH):c.291C>T (p.Asp97=)
|
rs577947755
|
|
NM_000140.5(FECH):c.307A>C (p.Ile103Leu)
|
rs2122329449
|
|
NM_000140.5(FECH):c.314+6A>C
|
rs786205246
|
|
NM_000140.5(FECH):c.314+6A>G
|
|
|
NM_000140.5(FECH):c.315-14G>C
|
|
|
NM_000140.5(FECH):c.315-19T>C
|
rs1465730968
|
|
NM_000140.5(FECH):c.315-1G>C
|
|
|
NM_000140.5(FECH):c.315T>C (p.Asn105=)
|
|
|
NM_000140.5(FECH):c.333C>T (p.Ile111=)
|
|
|
NM_000140.5(FECH):c.343C>T (p.Arg115Ter)
|
|
|
NM_000140.5(FECH):c.365del (p.Gln122fs)
|
rs1599003455
|
|
NM_000140.5(FECH):c.384C>T (p.Gly128=)
|
|
|
NM_000140.5(FECH):c.451T>C (p.Ser151Pro)
|
|
|
NM_000140.5(FECH):c.452C>T (p.Ser151Phe)
|
rs765875996
|
|
NM_000140.5(FECH):c.463+1G>C
|
rs1206108637
|
|
NM_000140.5(FECH):c.463+1G>T
|
rs1206108637
|
|
NM_000140.5(FECH):c.463G>C (p.Ala155Pro)
|
rs2122320829
|
|
NM_000140.5(FECH):c.464-4A>G
|
rs1265864647
|
|
NM_000140.5(FECH):c.479A>G (p.Tyr160Cys)
|
|
|
NM_000140.5(FECH):c.490C>T (p.Arg164Trp)
|
|
|
NM_000140.5(FECH):c.496G>A (p.Val166Ile)
|
|
|
NM_000140.5(FECH):c.502C>T (p.Pro168Ser)
|
rs2122299647
|
|
NM_000140.5(FECH):c.553G>A (p.Ala185Thr)
|
rs397514476
|
|
NM_000140.5(FECH):c.580_584del (p.Tyr194fs)
|
rs786205248
|
|
NM_000140.5(FECH):c.581A>G (p.Tyr194Cys)
|
|
|
NM_000140.5(FECH):c.586T>C (p.Cys196Arg)
|
|
|
NM_000140.5(FECH):c.589T>A (p.Ser197Thr)
|
|
|
NM_000140.5(FECH):c.590C>T (p.Ser197Phe)
|
|
|
NM_000140.5(FECH):c.598+1G>T
|
rs1598996309
|
|
NM_000140.5(FECH):c.598+3A>G
|
|
|
NM_000140.5(FECH):c.598+4A>T
|
|
|
NM_000140.5(FECH):c.598+7G>A
|
|
|
NM_000140.5(FECH):c.599-2A>C
|
|
|
NM_000140.5(FECH):c.613G>A (p.Ala205Thr)
|
|
|
NM_000140.5(FECH):c.621C>A (p.Tyr207Ter)
|
|
|
NM_000140.5(FECH):c.623G>A (p.Arg208Lys)
|
|
|
NM_000140.5(FECH):c.627C>A (p.Tyr209Ter)
|
rs2122284871
|
|
NM_000140.5(FECH):c.639G>T (p.Val213=)
|
|
|
NM_000140.5(FECH):c.643C>T (p.Arg215Trp)
|
|
|
NM_000140.5(FECH):c.653C>T (p.Thr218Met)
|
|
|
NM_000140.5(FECH):c.654G>A (p.Thr218=)
|
rs187469660
|
|
NM_000140.5(FECH):c.656T>G (p.Met219Arg)
|
|
|
NM_000140.5(FECH):c.665G>A (p.Ser222Asn)
|
rs2122284610
|
|
NM_000140.5(FECH):c.671T>C (p.Ile224Thr)
|
|
|
NM_000140.5(FECH):c.680G>A (p.Trp227Ter)
|
rs2122284554
|
|
NM_000140.5(FECH):c.689A>C (p.His230Pro)
|
|
|
NM_000140.5(FECH):c.705+1G>A
|
|
|
NM_000140.5(FECH):c.706-5_706-2del
|
rs868641903
|
|
NM_000140.5(FECH):c.793C>G (p.Leu265Val)
|
|
|
NM_000140.5(FECH):c.798C>A (p.Pro266=)
|
rs536765
|
|
NM_000140.5(FECH):c.798C>G (p.Pro266=)
|
rs536765
|
|
NM_000140.5(FECH):c.800T>C (p.Met267Thr)
|
|
|
NM_000140.5(FECH):c.803C>T (p.Ser268Phe)
|
|
|
NM_000140.5(FECH):c.804+10A>G
|
|
|
NM_000140.5(FECH):c.804+217dup
|
rs3216687
|
|
NM_000140.5(FECH):c.804+5G>A
|
|
|
NM_000140.5(FECH):c.805-15G>C
|
|
|
NM_000140.5(FECH):c.805-1G>A
|
rs2122251187
|
|
NM_000140.5(FECH):c.815G>A (p.Arg272Lys)
|
|
|
NM_000140.5(FECH):c.835G>A (p.Glu279Lys)
|
|
|
NM_000140.5(FECH):c.836A>T (p.Glu279Val)
|
rs2122250951
|
|
NM_000140.5(FECH):c.843del (p.Ser281fs)
|
rs2122250926
|
|
NM_000140.5(FECH):c.876G>A (p.Glu292=)
|
rs2122250793
|
|
NM_000140.5(FECH):c.885C>A (p.Asn295Lys)
|
|
|
NM_000140.5(FECH):c.892C>T (p.Arg298Ter)
|
|
|
NM_000140.5(FECH):c.901_902del (p.Trp301fs)
|
rs1430926156
|
|
NM_000140.5(FECH):c.912+8G>C
|
|
|
NM_000140.5(FECH):c.913-2A>G
|
|
|
NM_000140.5(FECH):c.913-6G>A
|
rs373867253
|
|
NM_000140.5(FECH):c.913-7C>G
|
|
|
NM_000140.5(FECH):c.913-7C>T
|
rs369538477
|
|
NM_000140.5(FECH):c.930G>A (p.Trp310Ter)
|
|
|
NM_000140.5(FECH):c.945del (p.Asp316fs)
|
rs2122248224
|
|
NM_000140.5(FECH):c.947A>G (p.Asp316Gly)
|
|
|
NM_000140.5(FECH):c.949G>A (p.Glu317Lys)
|
|
|
NM_000140.5(FECH):c.953C>G (p.Ser318Cys)
|
|
|
NM_000140.5(FECH):c.954dup (p.Ile319fs)
|
|
|
NM_000140.5(FECH):c.963del (p.Leu322fs)
|
|
|