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.1181-210G>A
|
rs12898575
|
0.12822
|
NM_000137.4(FAH):c.1181-204G>A
|
rs12898576
|
0.12730
|
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.1180+161A>G
|
rs71397597
|
0.05519
|
NM_000137.4(FAH):c.913+156G>C
|
rs79745256
|
0.05332
|
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.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.1180+83A>G
|
rs148363797
|
0.01142
|
NM_000137.4(FAH):c.855G>A (p.Pro285=)
|
rs73481171
|
0.00927
|
NM_000137.4(FAH):c.1063-127C>A
|
rs56104030
|
0.00692
|
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.1259G>A (p.Ter420=)
|
rs61747586
|
0.00241
|
NM_000137.4(FAH):c.1098G>A (p.Ser366=)
|
rs35033541
|
0.00137
|
NM_000137.4(FAH):c.961-17G>A
|
rs372657388
|
0.00133
|
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.243G>A (p.Ala81=)
|
rs36122289
|
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.831G>A (p.Pro277=)
|
rs372980573
|
0.00024
|
NM_000137.4(FAH):c.747A>G (p.Pro249=)
|
rs138757552
|
0.00022
|
NM_000137.4(FAH):c.150T>C (p.Phe50=)
|
rs186471906
|
0.00016
|
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.870C>T (p.Asp290=)
|
rs377480457
|
0.00011
|
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.1069G>T (p.Glu357Ter)
|
rs121965075
|
0.00008
|
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.1204C>T (p.Arg402Cys)
|
rs780378868
|
0.00004
|
NM_000137.4(FAH):c.441G>A (p.Ala147=)
|
rs141863249
|
0.00004
|
NM_000137.4(FAH):c.1022G>A (p.Arg341Gln)
|
rs903038605
|
0.00003
|
NM_000137.4(FAH):c.133A>G (p.Ile45Val)
|
rs375743726
|
0.00003
|
NM_000137.4(FAH):c.1A>G (p.Met1Val)
|
rs1057517972
|
0.00003
|
NM_000137.4(FAH):c.1090G>T (p.Glu364Ter)
|
rs121965076
|
0.00002
|
NM_000137.4(FAH):c.1210G>A (p.Gly404Ser)
|
rs1297118863
|
0.00002
|
NM_000137.4(FAH):c.620G>A (p.Gly207Asp)
|
rs754196530
|
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.1025C>T (p.Pro342Leu)
|
rs779040832
|
0.00001
|
NM_000137.4(FAH):c.1057G>A (p.Gly353Arg)
|
rs895743403
|
0.00001
|
NM_000137.4(FAH):c.1079G>A (p.Gly360Asp)
|
rs148473414
|
0.00001
|
NM_000137.4(FAH):c.1109C>T (p.Thr370Met)
|
rs559050778
|
0.00001
|
NM_000137.4(FAH):c.141G>A (p.Lys47=)
|
rs1202678414
|
0.00001
|
NM_000137.4(FAH):c.192G>T (p.Gln64His)
|
rs80338894
|
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.271G>A (p.Val91Met)
|
rs374371839
|
0.00001
|
NM_000137.4(FAH):c.300C>T (p.Thr100=)
|
rs567587933
|
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.772A>G (p.Thr258Ala)
|
rs766663540
|
0.00001
|
NM_000137.4(FAH):c.934G>A (p.Ala312Thr)
|
rs150606030
|
0.00001
|
NM_000137.4(FAH):c.963C>A (p.Tyr321Ter)
|
rs886044640
|
0.00001
|
GRCh37/hg19 15q25.1(chr15:80472308-80484049)x1
|
|
|
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.1051A>G (p.Ile351Val)
|
rs1490721679
|
|
NM_000137.4(FAH):c.107T>C (p.Ile36Thr)
|
rs774648934
|
|
NM_000137.4(FAH):c.1181-235C>T
|
rs62006336
|
|
NM_000137.4(FAH):c.1195G>A (p.Asp399Asn)
|
rs1449927772
|
|
NM_000137.4(FAH):c.1213_1214delinsCA (p.Phe405His)
|
rs1567123622
|
|
NM_000137.4(FAH):c.134T>C (p.Ile45Thr)
|
rs1567114346
|
|
NM_000137.4(FAH):c.193-331_193-330del
|
rs200674175
|
|
NM_000137.4(FAH):c.314+1G>A
|
rs1057516408
|
|
NM_000137.4(FAH):c.365-109A>G
|
rs114890326
|
|
NM_000137.4(FAH):c.455+5G>A
|
|
|
NM_000137.4(FAH):c.456G>A (p.Trp152Ter)
|
rs370686447
|
|
NM_000137.4(FAH):c.466C>T (p.Pro156Ser)
|
|
|
NM_000137.4(FAH):c.510C>T (p.Gly170=)
|
rs1567117418
|
|
NM_000137.4(FAH):c.520C>T (p.Arg174Ter)
|
rs781496816
|
|
NM_000137.4(FAH):c.615dup (p.Val206fs)
|
rs1057517084
|
|
NM_000137.4(FAH):c.696C>A (p.Asn232Lys)
|
rs533540262
|
|
NM_000137.4(FAH):c.707-7_707-5del
|
rs779284513
|
|
NM_000137.4(FAH):c.707C>T (p.Ala236Val)
|
rs1567118972
|
|
NM_000137.4(FAH):c.771C>G (p.Thr257=)
|
rs1567119023
|
|
NM_000137.4(FAH):c.81+1G>C
|
|
|
NM_000137.4(FAH):c.81+38dup
|
rs60184934
|
|
NM_000137.4(FAH):c.81+39_81+57del
|
rs554422109
|
|
NM_000137.4(FAH):c.816T>G (p.Phe272Leu)
|
rs886286986
|
|
NM_000137.4(FAH):c.838-173del
|
rs3835063
|
|
NM_000137.4(FAH):c.856T>A (p.Tyr286Asn)
|
|
|