NM_000137.4(FAH):c.462C>A (p.His154Gln)
|
rs144234072
|
0.00038
|
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.1193G>A (p.Gly398Glu)
|
rs141946827
|
0.00010
|
NM_000137.4(FAH):c.412G>A (p.Gly138Arg)
|
rs143243347
|
0.00010
|
NM_000137.4(FAH):c.1097C>T (p.Ser366Leu)
|
rs372685249
|
0.00009
|
NM_000137.4(FAH):c.1204C>T (p.Arg402Cys)
|
rs780378868
|
0.00004
|
NM_000137.4(FAH):c.484C>T (p.Arg162Cys)
|
rs959533704
|
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.82-3T>C
|
rs368921640
|
0.00003
|
NM_000137.4(FAH):c.880A>C (p.Thr294Pro)
|
rs370634385
|
0.00003
|
NM_000137.4(FAH):c.1102A>C (p.Lys368Gln)
|
rs770665329
|
0.00002
|
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.1159G>A (p.Gly387Arg)
|
rs753539920
|
0.00001
|
NM_000137.4(FAH):c.155G>A (p.Gly52Asp)
|
rs780944655
|
0.00001
|
NM_000137.4(FAH):c.407A>G (p.Asn136Ser)
|
rs768365621
|
0.00001
|
NM_000137.4(FAH):c.1003G>A (p.Val335Ile)
|
|
|
NM_000137.4(FAH):c.1013G>A (p.Cys338Tyr)
|
|
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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.1097_1099del (p.Ser366del)
|
|
|
NM_000137.4(FAH):c.1124T>C (p.Leu375Pro)
|
|
|
NM_000137.4(FAH):c.1181G>A (p.Gly394Glu)
|
|
|
NM_000137.4(FAH):c.1213_1214delinsCA (p.Phe405His)
|
rs1567123622
|
|
NM_000137.4(FAH):c.128T>C (p.Leu43Pro)
|
|
|
NM_000137.4(FAH):c.224A>G (p.Gln75Arg)
|
|
|
NM_000137.4(FAH):c.23A>C (p.Glu8Ala)
|
rs2041065243
|
|
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.307C>T (p.Arg103Trp)
|
|
|
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.455+3A>T
|
|
|
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.580A>G (p.Lys194Glu)
|
|
|
NM_000137.4(FAH):c.59G>A (p.Gly20Asp)
|
|
|
NM_000137.4(FAH):c.607-6T>G
|
rs80338896
|
|
NM_000137.4(FAH):c.615T>A (p.Phe205Leu)
|
rs2041246277
|
|
NM_000137.4(FAH):c.633A>T (p.Arg211Ser)
|
|
|
NM_000137.4(FAH):c.678T>G (p.Phe226Leu)
|
rs2041247325
|
|
NM_000137.4(FAH):c.704G>A (p.Ser235Asn)
|
|
|
NM_000137.4(FAH):c.710G>A (p.Arg237Gln)
|
rs2041253905
|
|
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.866A>G (p.His289Arg)
|
|
|
NM_000137.4(FAH):c.932C>T (p.Ala311Val)
|
rs529709868
|
|
NM_000137.4(FAH):c.953A>G (p.Asn318Ser)
|
|
|
NM_000137.4(FAH):c.960+5G>A
|
|
|
NM_000137.4(FAH):c.977T>C (p.Met326Thr)
|
rs2142107717
|
|