NM_000137.4(FAH):c.961-223T>C
|
rs2043692
|
0.88875
|
NM_000137.4(FAH):c.553+33A>G
|
rs1545119
|
0.73027
|
NM_000137.4(FAH):c.838-196A>G
|
rs11072883
|
0.72099
|
NM_000137.4(FAH):c.82-74T>C
|
rs1370276
|
0.65071
|
NM_000137.4(FAH):c.961-35C>A
|
rs2043691
|
0.61029
|
NM_000137.4(FAH):c.193-23T>C
|
rs1370274
|
0.59414
|
NM_000137.4(FAH):c.914-316T>C
|
rs10152142
|
0.50066
|
NM_000137.4(FAH):c.838-295C>T
|
rs2278205
|
0.50018
|
NM_000137.4(FAH):c.707-107del
|
rs58363292
|
0.49992
|
NM_000137.4(FAH):c.913+193G>T
|
rs1863768
|
0.49971
|
NM_000137.4(FAH):c.82-13G>A
|
rs1370275
|
0.45099
|
NM_000137.4(FAH):c.455+67T>C
|
rs2114716
|
0.43155
|
NM_000137.4(FAH):c.706+202_706+203insAT
|
rs3837742
|
0.30810
|
NM_000137.4(FAH):c.606+271G>A
|
rs7166889
|
0.26591
|
NM_000137.4(FAH):c.960+115G>A
|
rs2162550
|
0.25281
|
NM_000137.4(FAH):c.706+79A>G
|
rs7180031
|
0.23394
|
NM_000137.4(FAH):c.1181-210G>A
|
rs12898575
|
0.12822
|
NM_000137.4(FAH):c.1181-204G>A
|
rs12898576
|
0.12730
|
NM_000137.3(FAH):c.*310T>A
|
rs75212096
|
0.12315
|
NM_000137.4(FAH):c.*94T>C
|
rs1049194
|
0.12301
|
NM_000137.4(FAH):c.1180+113T>C
|
rs61128916
|
0.12174
|
NM_000137.4(FAH):c.193-85C>T
|
rs35880073
|
0.07535
|
NM_000137.4(FAH):c.267G>C (p.Leu89=)
|
rs33929922
|
0.07529
|
NM_000137.4(FAH):c.314+224C>G
|
rs75782446
|
0.06977
|
NM_000137.3(FAH):c.*284C>G
|
rs79203348
|
0.06789
|
NM_000137.4(FAH):c.1056C>T (p.Ser352=)
|
rs1801374
|
0.06041
|
NM_000137.4(FAH):c.1180+161A>G
|
rs71397597
|
0.05519
|
NM_000137.4(FAH):c.913+156G>C
|
rs79745256
|
0.05332
|
NM_000137.4(FAH):c.1180+4A>G
|
rs60585303
|
0.04595
|
NM_000137.4(FAH):c.607-176T>C
|
rs12439250
|
0.04587
|
NM_000137.4(FAH):c.456-267G>C
|
rs112588563
|
0.04575
|
NM_000137.4(FAH):c.707-56G>A
|
rs3752693
|
0.03999
|
NM_000137.4(FAH):c.1181-98C>T
|
rs56793941
|
0.02685
|
NM_000137.4(FAH):c.1021C>T (p.Arg341Trp)
|
rs11555096
|
0.02131
|
NM_000137.4(FAH):c.455+29G>A
|
rs2278204
|
0.01872
|
NM_000137.4(FAH):c.192+212G>A
|
rs16971784
|
0.01864
|
NM_000137.4(FAH):c.*88C>T
|
rs113381157
|
0.01818
|
NM_000137.4(FAH):c.1063-274G>C
|
rs116993568
|
0.01728
|
NM_000137.4(FAH):c.914-297A>G
|
rs28562328
|
0.01693
|
NM_000137.4(FAH):c.707-122G>A
|
rs112775316
|
0.01625
|
NM_000137.4(FAH):c.-34C>T
|
rs142522569
|
0.01180
|
NM_000137.4(FAH):c.1180+83A>G
|
rs148363797
|
0.01142
|
NM_000137.4(FAH):c.82-19G>A
|
rs75733859
|
0.00966
|
NM_000137.4(FAH):c.483C>T (p.Gly161=)
|
rs116272698
|
0.00943
|
NM_000137.4(FAH):c.855G>A (p.Pro285=)
|
rs73481171
|
0.00927
|
NM_000137.4(FAH):c.165C>T (p.Leu55=)
|
rs28733633
|
0.00811
|
NM_000137.4(FAH):c.1063-127C>A
|
rs56104030
|
0.00692
|
NM_000137.4(FAH):c.139A>G (p.Lys47Glu)
|
rs34749737
|
0.00650
|
NM_000137.4(FAH):c.192+109G>A
|
rs11072882
|
0.00610
|
NM_000137.4(FAH):c.837+277G>A
|
rs148725050
|
0.00528
|
NM_000137.4(FAH):c.838-50G>A
|
rs116638928
|
0.00503
|
NM_000137.4(FAH):c.837+97G>A
|
rs369462541
|
0.00471
|
NM_000137.4(FAH):c.707-63G>A
|
rs191028698
|
0.00468
|
NM_000137.4(FAH):c.837+120C>T
|
rs183545173
|
0.00332
|
NM_000137.4(FAH):c.554-20T>G
|
rs199501793
|
0.00272
|
NM_000137.4(FAH):c.1259G>A (p.Ter420=)
|
rs61747586
|
0.00241
|
NM_000137.4(FAH):c.1098G>A (p.Ser366=)
|
rs35033541
|
0.00137
|
NM_000137.4(FAH):c.921A>G (p.Gly307=)
|
rs76338717
|
0.00135
|
NM_000137.4(FAH):c.961-17G>A
|
rs372657388
|
0.00133
|
NM_000137.4(FAH):c.456-20C>T
|
rs75021564
|
0.00128
|
NM_000137.4(FAH):c.565G>A (p.Val189Ile)
|
rs145389125
|
0.00108
|
NM_000137.4(FAH):c.1205G>A (p.Arg402His)
|
rs147796599
|
0.00092
|
NM_000137.4(FAH):c.553+10C>T
|
rs201051426
|
0.00067
|
NM_000137.4(FAH):c.181G>T (p.Val61Phe)
|
rs151264725
|
0.00053
|
NM_000137.4(FAH):c.837+9A>T
|
rs369092208
|
0.00053
|
NM_000137.4(FAH):c.81+12G>A
|
rs200319726
|
0.00048
|
NM_000137.4(FAH):c.243G>A (p.Ala81=)
|
rs36122289
|
0.00041
|
NM_000137.4(FAH):c.706+9T>C
|
rs368042270
|
0.00041
|
NM_000137.4(FAH):c.462C>A (p.His154Gln)
|
rs144234072
|
0.00038
|
NM_000137.4(FAH):c.1062+5G>A
|
rs80338901
|
0.00028
|
NM_000137.4(FAH):c.409G>A (p.Val137Ile)
|
rs139268254
|
0.00027
|
NM_000137.4(FAH):c.564C>T (p.Pro188=)
|
rs149988384
|
0.00026
|
NM_000137.4(FAH):c.831G>A (p.Pro277=)
|
rs372980573
|
0.00024
|
NM_000137.4(FAH):c.747A>G (p.Pro249=)
|
rs138757552
|
0.00022
|
NM_000137.4(FAH):c.-23A>C
|
rs200127538
|
0.00019
|
NM_000137.4(FAH):c.1181-17G>T
|
rs376466730
|
0.00016
|
NM_000137.4(FAH):c.150T>C (p.Phe50=)
|
rs186471906
|
0.00016
|
NM_000137.4(FAH):c.741C>T (p.Leu247=)
|
rs145851627
|
0.00016
|
NM_000137.2(FAH):c.-67C>A
|
rs886051495
|
0.00014
|
NM_000137.4(FAH):c.-43G>T
|
rs200704926
|
0.00014
|
NM_000137.4(FAH):c.-40C>G
|
rs371100968
|
0.00013
|
NM_000137.4(FAH):c.583C>G (p.Leu195Val)
|
rs1002962662
|
0.00013
|
NM_000137.4(FAH):c.841C>A (p.Pro281Thr)
|
rs199820704
|
0.00013
|
NM_000137.4(FAH):c.1077C>T (p.Phe359=)
|
rs145570259
|
0.00012
|
NM_000137.4(FAH):c.715A>T (p.Ile239Phe)
|
rs144228661
|
0.00012
|
NM_000137.4(FAH):c.864C>T (p.Cys288=)
|
rs370273424
|
0.00012
|
NM_000137.4(FAH):c.553+15C>T
|
rs368509674
|
0.00011
|
NM_000137.4(FAH):c.870C>T (p.Asp290=)
|
rs377480457
|
0.00011
|
NM_000137.4(FAH):c.961-15G>A
|
rs376633948
|
0.00011
|
NM_000137.4(FAH):c.996C>T (p.His332=)
|
rs182877963
|
0.00011
|
NM_000137.4(FAH):c.1193G>A (p.Gly398Glu)
|
rs141946827
|
0.00010
|
NM_000137.4(FAH):c.412G>A (p.Gly138Arg)
|
rs143243347
|
0.00010
|
NM_000137.4(FAH):c.554-1G>T
|
rs80338895
|
0.00010
|
NM_000137.4(FAH):c.648C>A (p.Ile216=)
|
rs147016995
|
0.00010
|
NM_000137.4(FAH):c.1097C>T (p.Ser366Leu)
|
rs372685249
|
0.00009
|
NM_000137.4(FAH):c.1209C>T (p.Ile403=)
|
rs111345782
|
0.00009
|
NM_000137.4(FAH):c.786G>A (p.Trp262Ter)
|
rs80338899
|
0.00009
|
NM_000137.4(FAH):c.1008C>T (p.Asn336=)
|
rs373285527
|
0.00008
|
NM_000137.4(FAH):c.1069G>T (p.Glu357Ter)
|
rs121965075
|
0.00008
|
NM_000137.4(FAH):c.*138G>A
|
rs374613273
|
0.00006
|
NM_000137.4(FAH):c.1009G>A (p.Gly337Ser)
|
rs80338900
|
0.00006
|
NM_000137.4(FAH):c.1027G>T (p.Gly343Trp)
|
rs970505762
|
0.00006
|
NM_000137.4(FAH):c.302A>G (p.Glu101Gly)
|
rs758347578
|
0.00006
|
NM_000137.4(FAH):c.782C>T (p.Pro261Leu)
|
rs80338898
|
0.00006
|
NM_000137.4(FAH):c.1026G>A (p.Pro342=)
|
rs748360797
|
0.00005
|
NM_000137.4(FAH):c.1204C>T (p.Arg402Cys)
|
rs780378868
|
0.00004
|
NM_000137.4(FAH):c.270T>C (p.Ser90=)
|
rs1353456033
|
0.00004
|
NM_000137.4(FAH):c.408C>T (p.Asn136=)
|
rs111972793
|
0.00004
|
NM_000137.4(FAH):c.441G>A (p.Ala147=)
|
rs141863249
|
0.00004
|
NM_000137.4(FAH):c.484C>T (p.Arg162Cys)
|
rs959533704
|
0.00004
|
NM_000137.4(FAH):c.81+8G>A
|
rs188046704
|
0.00004
|
NM_000137.4(FAH):c.82-14C>T
|
rs746674102
|
0.00004
|
NM_000137.4(FAH):c.975G>C (p.Thr325=)
|
rs776473288
|
0.00004
|
NM_000137.4(FAH):c.978G>T (p.Met326Ile)
|
rs374655382
|
0.00004
|
NM_000137.4(FAH):c.1022G>A (p.Arg341Gln)
|
rs903038605
|
0.00003
|
NM_000137.4(FAH):c.1029G>A (p.Gly343=)
|
rs772334351
|
0.00003
|
NM_000137.4(FAH):c.10A>C (p.Ile4Leu)
|
rs754336457
|
0.00003
|
NM_000137.4(FAH):c.1195G>C (p.Asp399His)
|
rs1449927772
|
0.00003
|
NM_000137.4(FAH):c.126C>T (p.Asp42=)
|
rs373120801
|
0.00003
|
NM_000137.4(FAH):c.133A>G (p.Ile45Val)
|
rs375743726
|
0.00003
|
NM_000137.4(FAH):c.192+18G>A
|
rs772156602
|
0.00003
|
NM_000137.4(FAH):c.1A>G (p.Met1Val)
|
rs1057517972
|
0.00003
|
NM_000137.4(FAH):c.82-3T>C
|
rs368921640
|
0.00003
|
NM_000137.4(FAH):c.843C>G (p.Pro281=)
|
rs755556442
|
0.00003
|
NM_000137.4(FAH):c.880A>C (p.Thr294Pro)
|
rs370634385
|
0.00003
|
NM_000137.4(FAH):c.*129T>C
|
rs968507766
|
0.00002
|
NM_000137.4(FAH):c.1090G>T (p.Glu364Ter)
|
rs121965076
|
0.00002
|
NM_000137.4(FAH):c.1102A>C (p.Lys368Gln)
|
rs770665329
|
0.00002
|
NM_000137.4(FAH):c.1125G>A (p.Leu375=)
|
rs573995081
|
0.00002
|
NM_000137.4(FAH):c.1210G>A (p.Gly404Ser)
|
rs1297118863
|
0.00002
|
NM_000137.4(FAH):c.391C>T (p.Arg131Trp)
|
rs147946196
|
0.00002
|
NM_000137.4(FAH):c.398A>T (p.His133Leu)
|
rs775152764
|
0.00002
|
NM_000137.4(FAH):c.411C>T (p.Val137=)
|
rs757871102
|
0.00002
|
NM_000137.4(FAH):c.567A>G (p.Val189=)
|
rs750785945
|
0.00002
|
NM_000137.4(FAH):c.60C>A (p.Gly20=)
|
rs749196943
|
0.00002
|
NM_000137.4(FAH):c.620G>A (p.Gly207Asp)
|
rs754196530
|
0.00002
|
NM_000137.4(FAH):c.666T>C (p.His222=)
|
rs768359308
|
0.00002
|
NM_000137.4(FAH):c.696C>T (p.Asn232=)
|
rs533540262
|
0.00002
|
NM_000137.4(FAH):c.707-1G>A
|
rs149052294
|
0.00002
|
NM_000137.4(FAH):c.709C>T (p.Arg237Ter)
|
rs769550316
|
0.00002
|
NM_000137.4(FAH):c.891C>T (p.Ile297=)
|
rs1037374579
|
0.00002
|
NM_000137.4(FAH):c.89C>T (p.Pro30Leu)
|
rs776178600
|
0.00002
|
NM_000137.4(FAH):c.961-18C>T
|
rs781743677
|
0.00002
|
NM_000137.4(FAH):c.9C>T (p.Phe3=)
|
rs1440066142
|
0.00002
|
NM_000137.3(FAH):c.*288G>A
|
rs1488863066
|
0.00001
|
NM_000137.4(FAH):c.*40C>T
|
rs3210172
|
0.00001
|
NM_000137.4(FAH):c.1025C>T (p.Pro342Leu)
|
rs779040832
|
0.00001
|
NM_000137.4(FAH):c.1039G>A (p.Ala347Thr)
|
rs376563006
|
0.00001
|
NM_000137.4(FAH):c.1057G>A (p.Gly353Arg)
|
rs895743403
|
0.00001
|
NM_000137.4(FAH):c.1078G>A (p.Gly360Ser)
|
rs779705179
|
0.00001
|
NM_000137.4(FAH):c.1079G>A (p.Gly360Asp)
|
rs148473414
|
0.00001
|
NM_000137.4(FAH):c.109G>A (p.Gly37Ser)
|
rs761938144
|
0.00001
|
NM_000137.4(FAH):c.1109C>T (p.Thr370Met)
|
rs559050778
|
0.00001
|
NM_000137.4(FAH):c.1110G>A (p.Thr370=)
|
rs765686036
|
0.00001
|
NM_000137.4(FAH):c.1113G>A (p.Lys371=)
|
rs1171924945
|
0.00001
|
NM_000137.4(FAH):c.1119A>C (p.Ile373=)
|
rs764155500
|
0.00001
|
NM_000137.4(FAH):c.1122C>T (p.Asp374=)
|
rs1173090424
|
0.00001
|
NM_000137.4(FAH):c.1158C>T (p.Asp386=)
|
rs767824538
|
0.00001
|
NM_000137.4(FAH):c.1159G>A (p.Gly387Arg)
|
rs753539920
|
0.00001
|
NM_000137.4(FAH):c.1180+10G>A
|
rs758464032
|
0.00001
|
NM_000137.4(FAH):c.1188C>T (p.Cys396=)
|
rs746752457
|
0.00001
|
NM_000137.4(FAH):c.1190del (p.Gln397fs)
|
rs786204551
|
0.00001
|
NM_000137.4(FAH):c.1194G>A (p.Gly398=)
|
rs780323996
|
0.00001
|
NM_000137.4(FAH):c.1213T>C (p.Phe405Leu)
|
rs1341466471
|
0.00001
|
NM_000137.4(FAH):c.1214T>A (p.Phe405Tyr)
|
rs1595899559
|
0.00001
|
NM_000137.4(FAH):c.1236G>A (p.Val412=)
|
rs761729916
|
0.00001
|
NM_000137.4(FAH):c.141G>A (p.Lys47=)
|
rs1202678414
|
0.00001
|
NM_000137.4(FAH):c.155G>A (p.Gly52Asp)
|
rs780944655
|
0.00001
|
NM_000137.4(FAH):c.192G>T (p.Gln64His)
|
rs80338894
|
0.00001
|
NM_000137.4(FAH):c.233G>A (p.Trp78Ter)
|
rs1268482591
|
0.00001
|
NM_000137.4(FAH):c.237G>A (p.Lys79=)
|
rs1490117712
|
0.00001
|
NM_000137.4(FAH):c.242C>T (p.Ala81Val)
|
rs1338749273
|
0.00001
|
NM_000137.4(FAH):c.261C>T (p.Asn87=)
|
rs763985544
|
0.00001
|
NM_000137.4(FAH):c.271G>A (p.Val91Met)
|
rs374371839
|
0.00001
|
NM_000137.4(FAH):c.291A>C (p.Arg97Ser)
|
rs754226189
|
0.00001
|
NM_000137.4(FAH):c.296A>G (p.Asp99Gly)
|
rs547847694
|
0.00001
|
NM_000137.4(FAH):c.300C>T (p.Thr100=)
|
rs567587933
|
0.00001
|
NM_000137.4(FAH):c.33C>T (p.Asp11=)
|
rs1276283182
|
0.00001
|
NM_000137.4(FAH):c.372C>A (p.Tyr124Ter)
|
rs1193030161
|
0.00001
|
NM_000137.4(FAH):c.387C>T (p.Ser129=)
|
rs770974311
|
0.00001
|
NM_000137.4(FAH):c.3G>A (p.Met1Ile)
|
rs766882348
|
0.00001
|
NM_000137.4(FAH):c.407A>G (p.Asn136Ser)
|
rs768365621
|
0.00001
|
NM_000137.4(FAH):c.437A>G (p.Asn146Ser)
|
rs754012972
|
0.00001
|
NM_000137.4(FAH):c.438del (p.Asn146fs)
|
rs779642226
|
0.00001
|
NM_000137.4(FAH):c.442T>C (p.Leu148=)
|
rs139430892
|
0.00001
|
NM_000137.4(FAH):c.455+19G>C
|
rs774022499
|
0.00001
|
NM_000137.4(FAH):c.492C>T (p.Ser164=)
|
rs754416947
|
0.00001
|
NM_000137.4(FAH):c.498C>T (p.Val166=)
|
rs143712599
|
0.00001
|
NM_000137.4(FAH):c.528C>T (p.Pro176=)
|
rs1299029114
|
0.00001
|
NM_000137.4(FAH):c.548_553+20del
|
rs768180953
|
0.00001
|
NM_000137.4(FAH):c.553+7G>A
|
rs2041210647
|
0.00001
|
NM_000137.4(FAH):c.616G>A (p.Val206Ile)
|
rs766182736
|
0.00001
|
NM_000137.4(FAH):c.644C>T (p.Pro215Leu)
|
rs753155575
|
0.00001
|
NM_000137.4(FAH):c.692T>C (p.Met231Thr)
|
rs772824887
|
0.00001
|
NM_000137.4(FAH):c.697G>A (p.Asp233Asn)
|
rs144902834
|
0.00001
|
NM_000137.4(FAH):c.699C>T (p.Asp233=)
|
rs1358109972
|
0.00001
|
NM_000137.4(FAH):c.723G>A (p.Lys241=)
|
rs199995781
|
0.00001
|
NM_000137.4(FAH):c.729G>A (p.Glu243=)
|
rs1283645707
|
0.00001
|
NM_000137.4(FAH):c.742G>A (p.Gly248Arg)
|
rs774861939
|
0.00001
|
NM_000137.4(FAH):c.759G>A (p.Lys253=)
|
rs750572597
|
0.00001
|
NM_000137.4(FAH):c.772A>G (p.Thr258Ala)
|
rs766663540
|
0.00001
|
NM_000137.4(FAH):c.783G>A (p.Pro261=)
|
rs777792671
|
0.00001
|
NM_000137.4(FAH):c.787G>A (p.Val263Met)
|
rs1168279912
|
0.00001
|
NM_000137.4(FAH):c.81+2T>A
|
rs772895065
|
0.00001
|
NM_000137.4(FAH):c.836A>G (p.Gln279Arg)
|
rs121965078
|
0.00001
|
NM_000137.4(FAH):c.913+8G>A
|
rs1245028497
|
0.00001
|
NM_000137.4(FAH):c.933G>A (p.Ala311=)
|
rs375166793
|
0.00001
|
NM_000137.4(FAH):c.934G>A (p.Ala312Thr)
|
rs150606030
|
0.00001
|
NM_000137.4(FAH):c.960+12C>T
|
rs370507945
|
0.00001
|
NM_000137.4(FAH):c.963C>A (p.Tyr321Ter)
|
rs886044640
|
0.00001
|
NM_000137.4(FAH):c.982C>T (p.Gln328Ter)
|
rs765134063
|
0.00001
|
GRCh37/hg19 15q25.1(chr15:80472308-80484049)x1
|
|
|
NC_000015.10:g.(?_80177527)_(80186219_?)del
|
|
|
NC_000015.9:g.(?_80445387)_(80445487_?)del
|
|
|
NC_000015.9:g.(?_80445387)_(80478561_?)del
|
|
|
NC_000015.9:g.(?_80450392)_(80450522_?)del
|
|
|
NC_000015.9:g.(?_80450392)_(80454688_?)del
|
|
|
NC_000015.9:g.(?_80460384)_(80460668_?)del
|
|
|
NC_000015.9:g.(?_80464481)_(80478561_?)del
|
|
|
NC_000015.9:g.(?_80465346)_(80465496_?)del
|
|
|
NC_000015.9:g.(?_80473374)_(80478561_?)del
|
|
|
NM_000137.2(FAH):c.-63C>A
|
rs532122242
|
|
NM_000137.3(FAH):c.*317G>A
|
rs886051499
|
|
NM_000137.4(FAH):c.*1G>A
|
rs2041369631
|
|
NM_000137.4(FAH):c.*38A>C
|
rs1049181
|
|
NM_000137.4(FAH):c.*38_*41del
|
rs369845634
|
|
NM_000137.4(FAH):c.*45_*46insGTTT
|
rs751787251
|
|
NM_000137.4(FAH):c.*51del
|
rs200464452
|
|
NM_000137.4(FAH):c.-7C>T
|
rs1555440078
|
|
NM_000137.4(FAH):c.1001C>T (p.Ser334Phe)
|
|
|
NM_000137.4(FAH):c.1001_1002del (p.Ser334fs)
|
|
|
NM_000137.4(FAH):c.1003G>A (p.Val335Ile)
|
|
|
NM_000137.4(FAH):c.1003_1004del (p.Val335fs)
|
rs1595897345
|
|
NM_000137.4(FAH):c.1013G>A (p.Cys338Tyr)
|
|
|
NM_000137.4(FAH):c.1014del (p.Gly337_Cys338insTer)
|
|
|
NM_000137.4(FAH):c.1018C>T (p.Leu340=)
|
|
|
NM_000137.4(FAH):c.1025dup (p.Asp344fs)
|
rs2041318487
|
|
NM_000137.4(FAH):c.1027G>A (p.Gly343Arg)
|
rs970505762
|
|
NM_000137.4(FAH):c.1028G>A (p.Gly343Glu)
|
|
|
NM_000137.4(FAH):c.1029G>T (p.Gly343=)
|
|
|
NM_000137.4(FAH):c.102G>A (p.Val34=)
|
|
|
NM_000137.4(FAH):c.1030del (p.Asp344fs)
|
rs747546798
|
|
NM_000137.4(FAH):c.1033del (p.Leu345fs)
|
|
|
NM_000137.4(FAH):c.1036C>T (p.Leu346=)
|
|
|
NM_000137.4(FAH):c.103G>A (p.Ala35Thr)
|
rs2142090724
|
|
NM_000137.4(FAH):c.1044T>C (p.Ser348=)
|
rs2142107851
|
|
NM_000137.4(FAH):c.1051A>G (p.Ile351Val)
|
rs1490721679
|
|
NM_000137.4(FAH):c.1059G>A (p.Gly353=)
|
|
|
NM_000137.4(FAH):c.1061C>T (p.Pro354Leu)
|
rs143326948
|
|
NM_000137.4(FAH):c.1062+11G>C
|
|
|
NM_000137.4(FAH):c.1062+15G>C
|
|
|
NM_000137.4(FAH):c.1062+16C>T
|
|
|
NM_000137.4(FAH):c.1062+18C>T
|
|
|
NM_000137.4(FAH):c.1062+2T>G
|
rs2142107894
|
|
NM_000137.4(FAH):c.1062G>A (p.Pro354=)
|
rs767329352
|
|
NM_000137.4(FAH):c.1063-10T>C
|
|
|
NM_000137.4(FAH):c.1063-12C>T
|
|
|
NM_000137.4(FAH):c.1063-18C>T
|
|
|
NM_000137.4(FAH):c.1063-1G>A
|
rs2041326700
|
|
NM_000137.4(FAH):c.1063-2A>G
|
rs1555442385
|
|
NM_000137.4(FAH):c.1063-9G>T
|
rs866653704
|
|
NM_000137.4(FAH):c.1068A>C (p.Pro356=)
|
rs2142108569
|
|
NM_000137.4(FAH):c.1068A>G (p.Pro356=)
|
rs2142108569
|
|
NM_000137.4(FAH):c.107T>C (p.Ile36Thr)
|
rs774648934
|
|
NM_000137.4(FAH):c.1080C>T (p.Gly360=)
|
|
|
NM_000137.4(FAH):c.1087T>C (p.Leu363=)
|
|
|
NM_000137.4(FAH):c.1090G>C (p.Glu364Gln)
|
|
|
NM_000137.4(FAH):c.1097_1099del (p.Ser366del)
|
|
|
NM_000137.4(FAH):c.1098G>T (p.Ser366=)
|
|
|
NM_000137.4(FAH):c.1117A>G (p.Ile373Val)
|
|
|
NM_000137.4(FAH):c.1124T>C (p.Leu375Pro)
|
|
|
NM_000137.4(FAH):c.1134T>G (p.Gly378=)
|
|
|
NM_000137.4(FAH):c.1140C>T (p.Thr380=)
|
rs2142108657
|
|
NM_000137.4(FAH):c.1141A>G (p.Arg381Gly)
|
rs121965077
|
|
NM_000137.4(FAH):c.1146G>A (p.Lys382=)
|
rs2142108665
|
|
NM_000137.4(FAH):c.1152G>T (p.Leu384=)
|
rs886051497
|
|
NM_000137.4(FAH):c.1156G>C (p.Asp386His)
|
rs1555442402
|
|
NM_000137.4(FAH):c.115dup (p.Gln39fs)
|
|
|
NM_000137.4(FAH):c.1161G>A (p.Gly387=)
|
rs2142108682
|
|
NM_000137.4(FAH):c.1164T>C (p.Asp388=)
|
|
|
NM_000137.4(FAH):c.1180+10G>T
|
|
|
NM_000137.4(FAH):c.1180+18C>G
|
|
|
NM_000137.4(FAH):c.1180+1G>A
|
rs980415517
|
|
NM_000137.4(FAH):c.1180+7G>T
|
|
|
NM_000137.4(FAH):c.1180+9T>G
|
|
|
NM_000137.4(FAH):c.1181-10T>C
|
|
|
NM_000137.4(FAH):c.1181-18T>G
|
|
|
NM_000137.4(FAH):c.1181-1G>A
|
rs1057516333
|
|
NM_000137.4(FAH):c.1181-235C>T
|
rs62006336
|
|
NM_000137.4(FAH):c.1181-7G>A
|
rs750983382
|
|
NM_000137.4(FAH):c.1181-9C>G
|
rs2142112575
|
|
NM_000137.4(FAH):c.1181G>A (p.Gly394Glu)
|
|
|
NM_000137.4(FAH):c.1182G>A (p.Gly394=)
|
rs2142112592
|
|
NM_000137.4(FAH):c.1182G>C (p.Gly394=)
|
|
|
NM_000137.4(FAH):c.1185C>T (p.Tyr395=)
|
rs2142112598
|
|
NM_000137.4(FAH):c.1194_1195dup (p.Asp399fs)
|
|
|
NM_000137.4(FAH):c.1195G>A (p.Asp399Asn)
|
rs1449927772
|
|
NM_000137.4(FAH):c.1196A>C (p.Asp399Ala)
|
rs2041368892
|
|
NM_000137.4(FAH):c.1203C>A (p.Tyr401Ter)
|
rs2041368952
|
|
NM_000137.4(FAH):c.1203C>G (p.Tyr401Ter)
|
|
|
NM_000137.4(FAH):c.1206C>T (p.Arg402=)
|
rs2142112638
|
|
NM_000137.4(FAH):c.1209C>A (p.Ile403=)
|
|
|
NM_000137.4(FAH):c.120C>T (p.Ile40=)
|
|
|
NM_000137.4(FAH):c.1210G>C (p.Gly404Arg)
|
rs1297118863
|
|
NM_000137.4(FAH):c.1213_1214delinsCA (p.Phe405His)
|
rs1567123622
|
|
NM_000137.4(FAH):c.1221G>A (p.Gln407=)
|
|
|
NM_000137.4(FAH):c.122T>C (p.Leu41Pro)
|
rs2041114940
|
|
NM_000137.4(FAH):c.1235T>A (p.Val412Glu)
|
rs2142112670
|
|
NM_000137.4(FAH):c.1239G>T (p.Leu413=)
|
rs2142112674
|
|
NM_000137.4(FAH):c.1245T>G (p.Ala415=)
|
rs2142112683
|
|
NM_000137.4(FAH):c.1258T>C (p.Ter420Arg)
|
rs1057516631
|
|
NM_000137.4(FAH):c.1258T>G (p.Ter420Gly)
|
rs1057516631
|
|
NM_000137.4(FAH):c.128T>C (p.Leu43Pro)
|
|
|
NM_000137.4(FAH):c.129C>G (p.Leu43=)
|
|
|
NM_000137.4(FAH):c.129C>T (p.Leu43=)
|
|
|
NM_000137.4(FAH):c.132C>T (p.Ser44=)
|
|
|
NM_000137.4(FAH):c.134T>C (p.Ile45Thr)
|
rs1567114346
|
|
NM_000137.4(FAH):c.138C>T (p.Ile46=)
|
rs2142090778
|
|
NM_000137.4(FAH):c.147C>G (p.Leu49=)
|
rs886051496
|
|
NM_000137.4(FAH):c.14del (p.Pro5fs)
|
rs1057517341
|
|
NM_000137.4(FAH):c.155G>T (p.Gly52Val)
|
rs780944655
|
|
NM_000137.4(FAH):c.15G>A (p.Pro5=)
|
|
|
NM_000137.4(FAH):c.162C>T (p.Val54=)
|
|
|
NM_000137.4(FAH):c.165C>G (p.Leu55=)
|
|
|
NM_000137.4(FAH):c.167C>T (p.Ser56Phe)
|
rs770312290
|
|
NM_000137.4(FAH):c.189T>C (p.Asn63=)
|
|
|
NM_000137.4(FAH):c.191del (p.Gln64fs)
|
rs2142090831
|
|
NM_000137.4(FAH):c.192+10T>C
|
rs2142090839
|
|
NM_000137.4(FAH):c.192+13G>T
|
|
|
NM_000137.4(FAH):c.192+17C>T
|
|
|
NM_000137.4(FAH):c.192+19A>C
|
|
|
NM_000137.4(FAH):c.192+1G>T
|
rs786204683
|
|
NM_000137.4(FAH):c.192+9T>C
|
rs1386784352
|
|
NM_000137.4(FAH):c.193-15_193-14del
|
|
|
NM_000137.4(FAH):c.193-2A>G
|
rs1555440522
|
|
NM_000137.4(FAH):c.193-331_193-330del
|
rs200674175
|
|
NM_000137.4(FAH):c.193-8G>T
|
rs2142091970
|
|
NM_000137.4(FAH):c.1A>C (p.Met1Leu)
|
rs1057517972
|
|
NM_000137.4(FAH):c.201C>T (p.Leu67=)
|
rs779516322
|
|
NM_000137.4(FAH):c.205del (p.Ser69fs)
|
|
|
NM_000137.4(FAH):c.207C>T (p.Ser69=)
|
|
|
NM_000137.4(FAH):c.210C>T (p.Phe70=)
|
rs2142091985
|
|
NM_000137.4(FAH):c.21C>T (p.Ala7=)
|
|
|
NM_000137.4(FAH):c.221_238del (p.Gly74_Lys79del)
|
|
|
NM_000137.4(FAH):c.221del (p.Gly74fs)
|
rs2041131954
|
|
NM_000137.4(FAH):c.224A>G (p.Gln75Arg)
|
|
|
NM_000137.4(FAH):c.23A>C (p.Glu8Ala)
|
rs2041065243
|
|
NM_000137.4(FAH):c.244A>T (p.Arg82Ter)
|
|
|
NM_000137.4(FAH):c.249G>A (p.Val83=)
|
rs370095143
|
|
NM_000137.4(FAH):c.252C>T (p.Phe84=)
|
rs2041132568
|
|
NM_000137.4(FAH):c.253T>C (p.Leu85=)
|
rs2142092035
|
|
NM_000137.4(FAH):c.258G>A (p.Gln86=)
|
|
|
NM_000137.4(FAH):c.266del (p.Leu89fs)
|
|
|
NM_000137.4(FAH):c.268T>A (p.Ser90Thr)
|
|
|
NM_000137.4(FAH):c.272T>G (p.Val91Gly)
|
rs1344024365
|
|
NM_000137.4(FAH):c.294T>C (p.Asp98=)
|
rs1413778856
|
|
NM_000137.4(FAH):c.295G>A (p.Asp99Asn)
|
rs1325951062
|
|
NM_000137.4(FAH):c.297C>T (p.Asp99=)
|
rs1595890511
|
|
NM_000137.4(FAH):c.298_300del (p.Thr100del)
|
rs1555440545
|
|
NM_000137.4(FAH):c.2T>A (p.Met1Lys)
|
rs1057516934
|
|
NM_000137.4(FAH):c.301G>T (p.Glu101Ter)
|
|
|
NM_000137.4(FAH):c.306T>C (p.Leu102=)
|
rs2041133609
|
|
NM_000137.4(FAH):c.307C>A (p.Arg103=)
|
|
|
NM_000137.4(FAH):c.307C>T (p.Arg103Trp)
|
|
|
NM_000137.4(FAH):c.309G>A (p.Arg103=)
|
rs771117713
|
|
NM_000137.4(FAH):c.30C>T (p.Ser10=)
|
rs1051057226
|
|
NM_000137.4(FAH):c.312G>A (p.Lys104=)
|
rs1203041732
|
|
NM_000137.4(FAH):c.314+11C>G
|
|
|
NM_000137.4(FAH):c.314+11C>T
|
|
|
NM_000137.4(FAH):c.314+12G>A
|
|
|
NM_000137.4(FAH):c.314+12G>T
|
|
|
NM_000137.4(FAH):c.314+14G>T
|
|
|
NM_000137.4(FAH):c.314+18A>C
|
|
|
NM_000137.4(FAH):c.314+18A>G
|
rs929155893
|
|
NM_000137.4(FAH):c.314+18A>T
|
|
|
NM_000137.4(FAH):c.314+1G>A
|
rs1057516408
|
|
NM_000137.4(FAH):c.314+1G>T
|
|
|
NM_000137.4(FAH):c.314+20del
|
|
|
NM_000137.4(FAH):c.314+49G>A
|
rs1370273
|
|
NM_000137.4(FAH):c.314+4A>G
|
rs748750943
|
|
NM_000137.4(FAH):c.34T>C (p.Phe12Leu)
|
|
|
NM_000137.4(FAH):c.365-109A>G
|
rs114890326
|
|
NM_000137.4(FAH):c.365-10del
|
|
|
NM_000137.4(FAH):c.365-11T>C
|
|
|
NM_000137.4(FAH):c.365-12T>C
|
|
|
NM_000137.4(FAH):c.365-15G>A
|
|
|
NM_000137.4(FAH):c.365-17G>T
|
|
|
NM_000137.4(FAH):c.365-18T>G
|
|
|
NM_000137.4(FAH):c.365-2A>G
|
|
|
NM_000137.4(FAH):c.365-2_399dup
|
|
|
NM_000137.4(FAH):c.365-4G>A
|
rs2041155157
|
|
NM_000137.4(FAH):c.365-5T>C
|
|
|
NM_000137.4(FAH):c.365-8C>G
|
|
|
NM_000137.4(FAH):c.365-9C>A
|
|
|
NM_000137.4(FAH):c.365-9C>T
|
|
|
NM_000137.4(FAH):c.369C>A (p.Asp123Glu)
|
|
|
NM_000137.4(FAH):c.379_380dup (p.Tyr128fs)
|
|
|
NM_000137.4(FAH):c.382_383insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNACCTCCTGACCTCGTGAACCGCCCGCCTCGCCGTCCGAACGAGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGACTACACAGACTTCT (p.Tyr128delinsPhePhePhePhePhePhePheXaaXaaXaaXaaLeuLeuThrSerTer)
|
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NM_000137.4(FAH):c.386C>T (p.Ser129Phe)
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NM_000137.4(FAH):c.38C>T (p.Pro13Leu)
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rs2142086863
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NM_000137.4(FAH):c.394C>T (p.Gln132Ter)
|
rs2041155591
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NM_000137.4(FAH):c.395A>G (p.Gln132Arg)
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NM_000137.4(FAH):c.396G>A (p.Gln132=)
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NM_000137.4(FAH):c.401C>A (p.Ala134Asp)
|
rs121965074
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NM_000137.4(FAH):c.402T>G (p.Ala134=)
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NM_000137.4(FAH):c.414A>G (p.Gly138=)
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rs2142093995
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NM_000137.4(FAH):c.419T>C (p.Met140Thr)
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NM_000137.4(FAH):c.424A>G (p.Arg142Gly)
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rs1420414848
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NM_000137.4(FAH):c.441G>T (p.Ala147=)
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rs141863249
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NM_000137.4(FAH):c.452A>G (p.Asn151Ser)
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rs377283883
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NM_000137.4(FAH):c.455+10G>A
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NM_000137.4(FAH):c.455+12G>A
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NM_000137.4(FAH):c.455+18T>C
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NM_000137.4(FAH):c.455+19G>A
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NM_000137.4(FAH):c.455+1G>A
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NM_000137.4(FAH):c.455+3A>G
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rs779426726
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NM_000137.4(FAH):c.455+3A>T
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NM_000137.4(FAH):c.455+5G>A
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NM_000137.4(FAH):c.455+6_455+10del
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NM_000137.4(FAH):c.455+9T>C
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rs531129429
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NM_000137.4(FAH):c.455G>A (p.Trp152Ter)
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rs1057516679
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NM_000137.4(FAH):c.456-10C>G
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NM_000137.4(FAH):c.456-10C>T
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rs2142097863
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NM_000137.4(FAH):c.456-14C>A
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NM_000137.4(FAH):c.456-1G>A
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NM_000137.4(FAH):c.456-2A>G
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rs1555441251
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NM_000137.4(FAH):c.456-3C>T
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NM_000137.4(FAH):c.456-4T>G
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NM_000137.4(FAH):c.456G>A (p.Trp152Ter)
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rs370686447
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NM_000137.4(FAH):c.457C>T (p.Leu153=)
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rs2142097876
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NM_000137.4(FAH):c.461_491del (p.His154fs)
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rs1057516684
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NM_000137.4(FAH):c.462C>T (p.His154=)
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NM_000137.4(FAH):c.466C>T (p.Pro156Ser)
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NM_000137.4(FAH):c.47A>T (p.Asn16Ile)
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rs121965073
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NM_000137.4(FAH):c.480T>C (p.His160=)
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rs2041209431
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NM_000137.4(FAH):c.484del (p.Arg162fs)
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rs2142097906
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NM_000137.4(FAH):c.485G>A (p.Arg162His)
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NM_000137.4(FAH):c.48C>T (p.Asn16=)
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rs1256559961
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NM_000137.4(FAH):c.492del (p.Ser165fs)
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rs1057517113
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NM_000137.4(FAH):c.494C>G (p.Ser165Cys)
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rs2142097922
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NM_000137.4(FAH):c.496G>C (p.Val166Leu)
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NM_000137.4(FAH):c.497T>G (p.Val166Gly)
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rs778387055
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NM_000137.4(FAH):c.49C>T (p.Leu17=)
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rs2041065702
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NM_000137.4(FAH):c.501G>T (p.Val167=)
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NM_000137.4(FAH):c.502G>A (p.Val168Met)
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NM_000137.4(FAH):c.506C>T (p.Ser169Phe)
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rs2142097943
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NM_000137.4(FAH):c.509G>T (p.Gly170Val)
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NM_000137.4(FAH):c.510C>T (p.Gly170=)
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rs1567117418
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NM_000137.4(FAH):c.513C>T (p.Thr171=)
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rs2142097954
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NM_000137.4(FAH):c.519C>A (p.Ile173=)
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rs2142097962
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NM_000137.4(FAH):c.51G>A (p.Leu17=)
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rs756012361
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NM_000137.4(FAH):c.520C>T (p.Arg174Ter)
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rs781496816
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NM_000137.4(FAH):c.525G>A (p.Arg175=)
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NM_000137.4(FAH):c.529A>G (p.Met177Val)
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NM_000137.4(FAH):c.52C>G (p.Pro18Ala)
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NM_000137.4(FAH):c.532G>C (p.Gly178Arg)
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rs2041210221
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NM_000137.4(FAH):c.532G>T (p.Gly178Ter)
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NM_000137.4(FAH):c.534A>G (p.Gly178=)
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rs2142097990
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NM_000137.4(FAH):c.535_536del (p.Gln179fs)
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rs2041210282
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NM_000137.4(FAH):c.53C>T (p.Pro18Leu)
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rs2041065794
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NM_000137.4(FAH):c.542_553+4dup
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rs746554047
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NM_000137.4(FAH):c.543A>G (p.Lys181=)
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rs537190415
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NM_000137.4(FAH):c.549T>C (p.Asp183=)
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NM_000137.4(FAH):c.54C>A (p.Pro18=)
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rs2142086887
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NM_000137.4(FAH):c.553+11G>A
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NM_000137.4(FAH):c.553+11G>T
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NM_000137.4(FAH):c.553+16G>A
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NM_000137.4(FAH):c.553+16G>T
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NM_000137.4(FAH):c.553+17T>C
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NM_000137.4(FAH):c.553+1G>A
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NM_000137.4(FAH):c.553+2_553+3del
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rs1555441272
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NM_000137.4(FAH):c.553+2del
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NM_000137.4(FAH):c.553+5G>A
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NM_000137.4(FAH):c.553+8A>G
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rs1447400619
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NM_000137.4(FAH):c.554-10G>A
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rs765115302
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NM_000137.4(FAH):c.554-12G>A
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NM_000137.4(FAH):c.554-15C>T
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rs774367598
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NM_000137.4(FAH):c.554-15dup
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NM_000137.4(FAH):c.554-16T>C
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NM_000137.4(FAH):c.554-16del
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rs377104738
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NM_000137.4(FAH):c.554-17_554-16insA
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NM_000137.4(FAH):c.554-4C>G
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rs1308165232
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NM_000137.4(FAH):c.554-6T>C
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rs2041212398
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NM_000137.4(FAH):c.558G>A (p.Lys186=)
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NM_000137.4(FAH):c.564C>G (p.Pro188=)
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rs149988384
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NM_000137.4(FAH):c.566_606+62del
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NM_000137.4(FAH):c.570T>C (p.Tyr190=)
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rs2142098208
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NM_000137.4(FAH):c.572_577delinsTCCAA (p.Gly191fs)
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NM_000137.4(FAH):c.576C>A (p.Ala192=)
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NM_000137.4(FAH):c.580A>G (p.Lys194Glu)
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NM_000137.4(FAH):c.580A>T (p.Lys194Ter)
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NM_000137.4(FAH):c.582G>A (p.Lys194=)
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NM_000137.4(FAH):c.588G>A (p.Leu196=)
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rs1435460132
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NM_000137.4(FAH):c.591C>T (p.Asp197=)
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NM_000137.4(FAH):c.597G>A (p.Glu199=)
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rs2142098244
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NM_000137.4(FAH):c.598C>T (p.Leu200=)
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rs2041213194
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NM_000137.4(FAH):c.59G>A (p.Gly20Asp)
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NM_000137.4(FAH):c.606+10C>T
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rs2142098259
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NM_000137.4(FAH):c.606+11T>A
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NM_000137.4(FAH):c.606+11T>C
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NM_000137.4(FAH):c.606+14A>C
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NM_000137.4(FAH):c.606+16G>C
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NM_000137.4(FAH):c.606+17T>G
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NM_000137.4(FAH):c.606+1G>A
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rs773450608
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NM_000137.4(FAH):c.606+1G>T
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NM_000137.4(FAH):c.606+20T>C
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NM_000137.4(FAH):c.606+8A>G
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rs1444983943
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NM_000137.4(FAH):c.607-10C>G
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rs2041245977
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NM_000137.4(FAH):c.607-10C>T
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rs2041245977
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NM_000137.4(FAH):c.607-17A>C
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NM_000137.4(FAH):c.607-18A>G
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NM_000137.4(FAH):c.607-1G>A
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rs771712041
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NM_000137.4(FAH):c.607-20T>A
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NM_000137.4(FAH):c.607-4T>A
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rs2142100909
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NM_000137.4(FAH):c.607-5G>A
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rs2142100907
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NM_000137.4(FAH):c.607-6T>G
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rs80338896
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NM_000137.4(FAH):c.607-8C>A
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NM_000137.4(FAH):c.607-9C>T
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rs1325357461
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NM_000137.4(FAH):c.607G>A (p.Ala203Thr)
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rs2041246142
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NM_000137.4(FAH):c.615T>A (p.Phe205Leu)
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rs2041246277
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NM_000137.4(FAH):c.615del (p.Phe205fs)
|
rs1057517084
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NM_000137.4(FAH):c.615dup (p.Val206fs)
|
rs1057517084
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NM_000137.4(FAH):c.616del (p.Phe205_Val206insTer)
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NM_000137.4(FAH):c.61G>T (p.Val21Phe)
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rs2041065908
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NM_000137.4(FAH):c.621C>T (p.Gly207=)
|
rs1404777519
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NM_000137.4(FAH):c.633A>T (p.Arg211Ser)
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NM_000137.4(FAH):c.634T>C (p.Leu212=)
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rs1337693496
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NM_000137.4(FAH):c.63C>T (p.Val21=)
|
rs2142086898
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NM_000137.4(FAH):c.642G>A (p.Glu214=)
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NM_000137.4(FAH):c.645G>A (p.Pro215=)
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rs151221329
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NM_000137.4(FAH):c.645G>C (p.Pro215=)
|
rs151221329
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NM_000137.4(FAH):c.645G>T (p.Pro215=)
|
rs151221329
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NM_000137.4(FAH):c.648C>G (p.Ile216Met)
|
rs147016995
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NM_000137.4(FAH):c.663C>A (p.Ala221=)
|
rs370892975
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NM_000137.4(FAH):c.663C>T (p.Ala221=)
|
rs370892975
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NM_000137.4(FAH):c.667G>T (p.Glu223Ter)
|
rs2142101007
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NM_000137.4(FAH):c.669G>A (p.Glu223=)
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|
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NM_000137.4(FAH):c.678T>G (p.Phe226Leu)
|
rs2041247325
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NM_000137.4(FAH):c.696C>A (p.Asn232Lys)
|
rs533540262
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NM_000137.4(FAH):c.697del (p.Asp233fs)
|
rs2142101046
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NM_000137.4(FAH):c.698A>T (p.Asp233Val)
|
rs80338897
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NM_000137.4(FAH):c.69G>A (p.Ser23=)
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|
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NM_000137.4(FAH):c.700T>G (p.Trp234Gly)
|
rs1555441595
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NM_000137.4(FAH):c.701G>A (p.Trp234Ter)
|
|
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NM_000137.4(FAH):c.702G>A (p.Trp234Ter)
|
rs765527687
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NM_000137.4(FAH):c.704G>A (p.Ser235Asn)
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NM_000137.4(FAH):c.706+16C>T
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NM_000137.4(FAH):c.706+1G>A
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NM_000137.4(FAH):c.706+20T>C
|
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NM_000137.4(FAH):c.706+2T>G
|
rs1555441597
|
|
NM_000137.4(FAH):c.707-10T>C
|
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NM_000137.4(FAH):c.707-12C>T
|
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NM_000137.4(FAH):c.707-13C>T
|
|
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NM_000137.4(FAH):c.707-1G>C
|
rs149052294
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|
NM_000137.4(FAH):c.707-7_707-5del
|
rs779284513
|
|
NM_000137.4(FAH):c.707-8T>G
|
|
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NM_000137.4(FAH):c.707C>T (p.Ala236Val)
|
rs1567118972
|
|
NM_000137.4(FAH):c.709C>A (p.Arg237=)
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|
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NM_000137.4(FAH):c.710G>A (p.Arg237Gln)
|
rs2041253905
|
|
NM_000137.4(FAH):c.718C>T (p.Gln240Ter)
|
|
|
NM_000137.4(FAH):c.721A>T (p.Lys241Ter)
|
rs2142101647
|
|
NM_000137.4(FAH):c.726G>A (p.Trp242Ter)
|
rs1567118987
|
|
NM_000137.4(FAH):c.72C>T (p.Thr24=)
|
rs768146083
|
|
NM_000137.4(FAH):c.72_81dup (p.Pro28fs)
|
|
|
NM_000137.4(FAH):c.732T>C (p.Tyr244=)
|
rs2041254296
|
|
NM_000137.4(FAH):c.735C>A (p.Val245=)
|
rs1399119821
|
|
NM_000137.4(FAH):c.735C>G (p.Val245=)
|
|
|
NM_000137.4(FAH):c.738T>G (p.Pro246=)
|
rs2142101669
|
|
NM_000137.4(FAH):c.740T>G (p.Leu247Arg)
|
|
|
NM_000137.4(FAH):c.741C>G (p.Leu247=)
|
rs145851627
|
|
NM_000137.4(FAH):c.744del (p.Pro249fs)
|
rs750741137
|
|
NM_000137.4(FAH):c.745C>A (p.Pro249Thr)
|
|
|
NM_000137.4(FAH):c.745C>T (p.Pro249Ser)
|
rs1595894742
|
|
NM_000137.4(FAH):c.747A>C (p.Pro249=)
|
|
|
NM_000137.4(FAH):c.753T>C (p.Leu251=)
|
rs2142101706
|
|
NM_000137.4(FAH):c.756G>A (p.Gly252=)
|
rs202041382
|
|
NM_000137.4(FAH):c.759G>T (p.Lys253Asn)
|
|
|
NM_000137.4(FAH):c.768G>C (p.Gly256=)
|
|
|
NM_000137.4(FAH):c.771C>G (p.Thr257=)
|
rs1567119023
|
|
NM_000137.4(FAH):c.775G>C (p.Val259Leu)
|
rs2041254739
|
|
NM_000137.4(FAH):c.778T>A (p.Ser260Thr)
|
|
|
NM_000137.4(FAH):c.780_781del (p.Pro261fs)
|
rs1057517436
|
|
NM_000137.4(FAH):c.783G>T (p.Pro261=)
|
rs777792671
|
|
NM_000137.4(FAH):c.785G>A (p.Trp262Ter)
|
|
|
NM_000137.4(FAH):c.789G>C (p.Val263=)
|
rs2142101764
|
|
NM_000137.4(FAH):c.79G>C (p.Asp27His)
|
|
|
NM_000137.4(FAH):c.801T>C (p.Asp267=)
|
rs1342383488
|
|
NM_000137.4(FAH):c.806_807dup (p.Met270fs)
|
|
|
NM_000137.4(FAH):c.807C>T (p.Leu269=)
|
|
|
NM_000137.4(FAH):c.808dup (p.Met270fs)
|
|
|
NM_000137.4(FAH):c.81+10G>A
|
rs199733231
|
|
NM_000137.4(FAH):c.81+16T>C
|
|
|
NM_000137.4(FAH):c.81+17T>C
|
|
|
NM_000137.4(FAH):c.81+1G>C
|
|
|
NM_000137.4(FAH):c.81+2T>C
|
rs772895065
|
|
NM_000137.4(FAH):c.81+2T>G
|
rs772895065
|
|
NM_000137.4(FAH):c.81+38dup
|
rs60184934
|
|
NM_000137.4(FAH):c.81+39_81+57del
|
rs554422109
|
|
NM_000137.4(FAH):c.81+9T>A
|
|
|
NM_000137.4(FAH):c.816T>G (p.Phe272Leu)
|
rs886286986
|
|
NM_000137.4(FAH):c.82-11C>T
|
|
|
NM_000137.4(FAH):c.82-16G>A
|
|
|
NM_000137.4(FAH):c.82-19G>C
|
|
|
NM_000137.4(FAH):c.82-1G>A
|
rs1247460110
|
|
NM_000137.4(FAH):c.82-1G>C
|
|
|
NM_000137.4(FAH):c.82-20C>T
|
|
|
NM_000137.4(FAH):c.82-4C>T
|
|
|
NM_000137.4(FAH):c.82-5C>A
|
|
|
NM_000137.4(FAH):c.82-5C>G
|
rs1446141136
|
|
NM_000137.4(FAH):c.82-5_82-3del
|
|
|
NM_000137.4(FAH):c.820G>C (p.Val274Leu)
|
|
|
NM_000137.4(FAH):c.825C>G (p.Pro275=)
|
|
|
NM_000137.4(FAH):c.827A>G (p.Asn276Ser)
|
|
|
NM_000137.4(FAH):c.827A>T (p.Asn276Ile)
|
|
|
NM_000137.4(FAH):c.82_83del (p.Pro28fs)
|
rs1595889891
|
|
NM_000137.4(FAH):c.830C>T (p.Pro277Leu)
|
|
|
NM_000137.4(FAH):c.835C>T (p.Gln279Ter)
|
rs2041255686
|
|
NM_000137.4(FAH):c.835del (p.Gln279fs)
|
rs1555441703
|
|
NM_000137.4(FAH):c.837+13T>A
|
|
|
NM_000137.4(FAH):c.837+17C>A
|
|
|
NM_000137.4(FAH):c.837+18A>G
|
|
|
NM_000137.4(FAH):c.837+5G>A
|
|
|
NM_000137.4(FAH):c.837G>A (p.Gln279=)
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NM_000137.4(FAH):c.838-10G>C
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rs759821435
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NM_000137.4(FAH):c.838-10G>T
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NM_000137.4(FAH):c.838-11T>C
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NM_000137.4(FAH):c.838-15G>A
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NM_000137.4(FAH):c.838-173del
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rs3835063
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NM_000137.4(FAH):c.838-19C>T
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NM_000137.4(FAH):c.838-28_838-15del
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rs2142103223
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NM_000137.4(FAH):c.838-2A>G
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NM_000137.4(FAH):c.838-9C>T
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NM_000137.4(FAH):c.839del (p.Asp280fs)
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NM_000137.4(FAH):c.843del (p.Arg282fs)
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NM_000137.4(FAH):c.845G>A (p.Arg282Lys)
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NM_000137.4(FAH):c.846G>A (p.Arg282=)
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rs886334563
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NM_000137.4(FAH):c.847C>A (p.Pro283Thr)
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NM_000137.4(FAH):c.850C>T (p.Leu284=)
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NM_000137.4(FAH):c.854_855insTGGCCCCTGCC (p.Tyr286fs)
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rs1555441852
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NM_000137.4(FAH):c.855G>T (p.Pro285=)
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rs73481171
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NM_000137.4(FAH):c.856T>A (p.Tyr286Asn)
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NM_000137.4(FAH):c.860del (p.Leu287fs)
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rs2142103306
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NM_000137.4(FAH):c.866A>G (p.His289Arg)
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NM_000137.4(FAH):c.876C>G (p.Pro292=)
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rs2142103332
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NM_000137.4(FAH):c.879C>A (p.Tyr293Ter)
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NM_000137.4(FAH):c.87A>G (p.Arg29=)
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NM_000137.4(FAH):c.881C>T (p.Thr294Ile)
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NM_000137.4(FAH):c.882A>G (p.Thr294=)
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rs2142103341
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NM_000137.4(FAH):c.885dup (p.Asp296Ter)
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rs1555441861
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NM_000137.4(FAH):c.894C>T (p.Asn298=)
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NM_000137.4(FAH):c.897C>T (p.Leu299=)
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rs947679755
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NM_000137.4(FAH):c.906C>T (p.Asn302=)
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rs2142103372
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NM_000137.4(FAH):c.909G>C (p.Leu303=)
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rs2142103381
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NM_000137.4(FAH):c.90G>A (p.Pro30=)
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rs202195651
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NM_000137.4(FAH):c.90G>C (p.Pro30=)
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rs202195651
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NM_000137.4(FAH):c.910A>T (p.Lys304Ter)
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rs2041271608
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NM_000137.4(FAH):c.913+10A>G
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rs2142103401
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NM_000137.4(FAH):c.913+13G>C
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NM_000137.4(FAH):c.913+14G>A
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NM_000137.4(FAH):c.913+15G>T
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NM_000137.4(FAH):c.913+16A>G
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NM_000137.4(FAH):c.913+17C>A
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NM_000137.4(FAH):c.913+2T>C
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NM_000137.4(FAH):c.913+8G>T
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NM_000137.4(FAH):c.914-10T>C
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rs1272034690
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NM_000137.4(FAH):c.914-1G>A
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rs2142105483
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NM_000137.4(FAH):c.914-2A>T
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NM_000137.4(FAH):c.914-7C>T
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NM_000137.4(FAH):c.919G>T (p.Gly307Ter)
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rs2041294652
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NM_000137.4(FAH):c.921A>C (p.Gly307=)
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NM_000137.4(FAH):c.932C>T (p.Ala311Val)
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rs529709868
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NM_000137.4(FAH):c.932del (p.Ala311fs)
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rs2142105509
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NM_000137.4(FAH):c.940A>G (p.Ile314Val)
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rs2041295204
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NM_000137.4(FAH):c.948G>A (p.Lys316=)
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rs2142105527
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NM_000137.4(FAH):c.953A>G (p.Asn318Ser)
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NM_000137.4(FAH):c.960+1G>A
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rs1057517201
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NM_000137.4(FAH):c.960+2T>C
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rs2142105542
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NM_000137.4(FAH):c.960+5G>A
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NM_000137.4(FAH):c.961-11A>G
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NM_000137.4(FAH):c.961-13C>T
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NM_000137.4(FAH):c.961-16C>T
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rs780170029
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NM_000137.4(FAH):c.961-18C>G
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NM_000137.4(FAH):c.961-20C>G
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rs2142107661
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NM_000137.4(FAH):c.961-2A>C
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rs1555442289
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NM_000137.4(FAH):c.961-2A>G
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NM_000137.4(FAH):c.961-5T>C
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rs2142107684
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NM_000137.4(FAH):c.961-8G>T
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rs932983420
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NM_000137.4(FAH):c.963C>G (p.Tyr321Ter)
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NM_000137.4(FAH):c.969C>T (p.Tyr323=)
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rs1595897308
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NM_000137.4(FAH):c.96dup (p.Gly33fs)
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rs2142090708
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NM_000137.4(FAH):c.971G>A (p.Trp324Ter)
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rs2041316956
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NM_000137.4(FAH):c.974C>T (p.Thr325Met)
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rs770713168
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NM_000137.4(FAH):c.975G>A (p.Thr325=)
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rs776473288
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NM_000137.4(FAH):c.977T>C (p.Met326Thr)
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rs2142107717
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NM_000137.4(FAH):c.978dup (p.Leu327fs)
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rs1595897321
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NM_000137.4(FAH):c.981G>A (p.Leu327=)
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NM_000137.4(FAH):c.987G>T (p.Gln329His)
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rs2041317218
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NM_000137.4(FAH):c.991A>G (p.Thr331Ala)
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