NM_000137.4(FAH):c.1098G>A (p.Ser366=)
|
rs35033541
|
0.00137
|
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.81+12G>A
|
rs200319726
|
0.00048
|
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.747A>G (p.Pro249=)
|
rs138757552
|
0.00022
|
NM_000137.4(FAH):c.-23A>C
|
rs200127538
|
0.00019
|
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.715A>T (p.Ile239Phe)
|
rs144228661
|
0.00012
|
NM_000137.4(FAH):c.864C>T (p.Cys288=)
|
rs370273424
|
0.00012
|
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.648C>A (p.Ile216=)
|
rs147016995
|
0.00010
|
NM_000137.4(FAH):c.1097C>T (p.Ser366Leu)
|
rs372685249
|
0.00009
|
NM_000137.4(FAH):c.*138G>A
|
rs374613273
|
0.00006
|
NM_000137.4(FAH):c.302A>G (p.Glu101Gly)
|
rs758347578
|
0.00006
|
NM_000137.4(FAH):c.1204C>T (p.Arg402Cys)
|
rs780378868
|
0.00004
|
NM_000137.4(FAH):c.322A>G (p.Ile108Val)
|
rs747942022
|
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.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.82-3T>C
|
rs368921640
|
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.1102A>C (p.Lys368Gln)
|
rs770665329
|
0.00002
|
NM_000137.4(FAH):c.341C>T (p.Thr114Met)
|
rs772014160
|
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.567A>G (p.Val189=)
|
rs750785945
|
0.00002
|
NM_000137.4(FAH):c.696C>T (p.Asn232=)
|
rs533540262
|
0.00002
|
NM_000137.4(FAH):c.89C>T (p.Pro30Leu)
|
rs776178600
|
0.00002
|
NM_000137.3(FAH):c.*288G>A
|
rs1488863066
|
0.00001
|
NM_000137.4(FAH):c.1039G>A (p.Ala347Thr)
|
rs376563006
|
0.00001
|
NM_000137.4(FAH):c.1078G>A (p.Gly360Ser)
|
rs779705179
|
0.00001
|
NM_000137.4(FAH):c.109G>A (p.Gly37Ser)
|
rs761938144
|
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.1213T>C (p.Phe405Leu)
|
rs1341466471
|
0.00001
|
NM_000137.4(FAH):c.1214T>A (p.Phe405Tyr)
|
rs1595899559
|
0.00001
|
NM_000137.4(FAH):c.155G>A (p.Gly52Asp)
|
rs780944655
|
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.407A>G (p.Asn136Ser)
|
rs768365621
|
0.00001
|
NM_000137.4(FAH):c.437A>G (p.Asn146Ser)
|
rs754012972
|
0.00001
|
NM_000137.4(FAH):c.692T>C (p.Met231Thr)
|
rs772824887
|
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
|
NC_000015.9:g.(?_80403807)_(81274523_?)dup
|
|
|
NM_000137.2(FAH):c.-159C>G
|
rs2041062775
|
|
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.1001C>T (p.Ser334Phe)
|
|
|
NM_000137.4(FAH):c.1003G>A (p.Val335Ile)
|
|
|
NM_000137.4(FAH):c.1013G>A (p.Cys338Tyr)
|
|
|
NM_000137.4(FAH):c.1061C>T (p.Pro354Leu)
|
rs143326948
|
|
NM_000137.4(FAH):c.1062G>A (p.Pro354=)
|
rs767329352
|
|
NM_000137.4(FAH):c.107T>C (p.Ile36Thr)
|
rs774648934
|
|
NM_000137.4(FAH):c.1097_1099del (p.Ser366del)
|
|
|
NM_000137.4(FAH):c.1124T>C (p.Leu375Pro)
|
|
|
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.1181G>A (p.Gly394Glu)
|
|
|
NM_000137.4(FAH):c.1196A>C (p.Asp399Ala)
|
rs2041368892
|
|
NM_000137.4(FAH):c.1213_1214delinsCA (p.Phe405His)
|
rs1567123622
|
|
NM_000137.4(FAH):c.128T>C (p.Leu43Pro)
|
|
|
NM_000137.4(FAH):c.147C>G (p.Leu49=)
|
rs886051496
|
|
NM_000137.4(FAH):c.167C>T (p.Ser56Phe)
|
rs770312290
|
|
NM_000137.4(FAH):c.192+9T>C
|
rs1386784352
|
|
NM_000137.4(FAH):c.221_238del (p.Gly74_Lys79del)
|
|
|
NM_000137.4(FAH):c.224A>G (p.Gln75Arg)
|
|
|
NM_000137.4(FAH):c.23A>C (p.Glu8Ala)
|
rs2041065243
|
|
NM_000137.4(FAH):c.249G>A (p.Val83=)
|
rs370095143
|
|
NM_000137.4(FAH):c.268T>A (p.Ser90Thr)
|
|
|
NM_000137.4(FAH):c.272T>G (p.Val91Gly)
|
rs1344024365
|
|
NM_000137.4(FAH):c.295G>A (p.Asp99Asn)
|
rs1325951062
|
|
NM_000137.4(FAH):c.298_300del (p.Thr100del)
|
rs1555440545
|
|
NM_000137.4(FAH):c.307C>T (p.Arg103Trp)
|
|
|
NM_000137.4(FAH):c.314+4A>G
|
rs748750943
|
|
NM_000137.4(FAH):c.348C>A (p.His116Gln)
|
|
|
NM_000137.4(FAH):c.365-2_399dup
|
|
|
NM_000137.4(FAH):c.369C>A (p.Asp123Glu)
|
|
|
NM_000137.4(FAH):c.395A>G (p.Gln132Arg)
|
|
|
NM_000137.4(FAH):c.452A>G (p.Asn151Ser)
|
rs377283883
|
|
NM_000137.4(FAH):c.455+3A>G
|
rs779426726
|
|
NM_000137.4(FAH):c.455+3A>T
|
|
|
NM_000137.4(FAH):c.455+9T>C
|
rs531129429
|
|
NM_000137.4(FAH):c.485G>A (p.Arg162His)
|
|
|
NM_000137.4(FAH):c.494C>G (p.Ser165Cys)
|
rs2142097922
|
|
NM_000137.4(FAH):c.496G>C (p.Val166Leu)
|
|
|
NM_000137.4(FAH):c.502G>A (p.Val168Met)
|
|
|
NM_000137.4(FAH):c.529A>G (p.Met177Val)
|
|
|
NM_000137.4(FAH):c.52C>G (p.Pro18Ala)
|
|
|
NM_000137.4(FAH):c.532G>C (p.Gly178Arg)
|
rs2041210221
|
|
NM_000137.4(FAH):c.542_553+4dup
|
rs746554047
|
|
NM_000137.4(FAH):c.553+8A>G
|
rs1447400619
|
|
NM_000137.4(FAH):c.580A>G (p.Lys194Glu)
|
|
|
NM_000137.4(FAH):c.59G>A (p.Gly20Asp)
|
|
|
NM_000137.4(FAH):c.607-10C>G
|
rs2041245977
|
|
NM_000137.4(FAH):c.607-6T>G
|
rs80338896
|
|
NM_000137.4(FAH):c.607G>A (p.Ala203Thr)
|
rs2041246142
|
|
NM_000137.4(FAH):c.615T>A (p.Phe205Leu)
|
rs2041246277
|
|
NM_000137.4(FAH):c.633A>T (p.Arg211Ser)
|
|
|
NM_000137.4(FAH):c.645G>T (p.Pro215=)
|
rs151221329
|
|
NM_000137.4(FAH):c.678T>G (p.Phe226Leu)
|
rs2041247325
|
|
NM_000137.4(FAH):c.696C>A (p.Asn232Lys)
|
rs533540262
|
|
NM_000137.4(FAH):c.700T>G (p.Trp234Gly)
|
rs1555441595
|
|
NM_000137.4(FAH):c.704G>A (p.Ser235Asn)
|
|
|
NM_000137.4(FAH):c.707-7_707-5del
|
rs779284513
|
|
NM_000137.4(FAH):c.710G>A (p.Arg237Gln)
|
rs2041253905
|
|
NM_000137.4(FAH):c.740T>G (p.Leu247Arg)
|
|
|
NM_000137.4(FAH):c.775G>C (p.Val259Leu)
|
rs2041254739
|
|
NM_000137.4(FAH):c.778T>A (p.Ser260Thr)
|
|
|
NM_000137.4(FAH):c.79G>C (p.Asp27His)
|
|
|
NM_000137.4(FAH):c.820G>C (p.Val274Leu)
|
|
|
NM_000137.4(FAH):c.827A>G (p.Asn276Ser)
|
|
|
NM_000137.4(FAH):c.827A>T (p.Asn276Ile)
|
|
|
NM_000137.4(FAH):c.830C>T (p.Pro277Leu)
|
|
|
NM_000137.4(FAH):c.837+5G>A
|
|
|
NM_000137.4(FAH):c.837G>A (p.Gln279=)
|
|
|
NM_000137.4(FAH):c.845G>A (p.Arg282Lys)
|
|
|
NM_000137.4(FAH):c.847C>A (p.Pro283Thr)
|
|
|
NM_000137.4(FAH):c.866A>G (p.His289Arg)
|
|
|
NM_000137.4(FAH):c.90G>C (p.Pro30=)
|
rs202195651
|
|
NM_000137.4(FAH):c.932C>T (p.Ala311Val)
|
rs529709868
|
|
NM_000137.4(FAH):c.940A>G (p.Ile314Val)
|
rs2041295204
|
|
NM_000137.4(FAH):c.953A>G (p.Asn318Ser)
|
|
|
NM_000137.4(FAH):c.960+5G>A
|
|
|
NM_000137.4(FAH):c.974C>T (p.Thr325Met)
|
rs770713168
|
|
NM_000137.4(FAH):c.977T>C (p.Met326Thr)
|
rs2142107717
|
|
NM_000137.4(FAH):c.987G>T (p.Gln329His)
|
rs2041317218
|
|
NM_000137.4(FAH):c.991A>G (p.Thr331Ala)
|
|
|