FAS
Primary Info
Mutation
Mouse studies
DNA sequencing


SI.No Mutation type Mutation change Mutation effects Expt Name PubMed
1 Substitutions Genomic: g.23581T>G
CDS: c.677-8T>G
AnimoAcid: p.Asp226fs		 Substitutions Direct sequencing, PCR based assay, SSCP Vaishnaw AK et al., 1999
2 Substitutions Genomic: g.18357A>G
CDS: c.335-2A>G
AnimoAcid: p.Gly112AspfsX39		 Substitutions Direct sequencing Cerutti E et al., 2007
3 Substitutions Genomic: g.12607C>T
CDS: c.139C>T
AnimoAcid: p.Gln47X		 Substitutions Direct sequencing Cerutti E et al., 2007
4 Substitutions Genomic: g.21480G>A
CDS: c.580G>A
AnimoAcid: p.Glu194Lys		 Substitutions NA Campagnoli MF et al., 2006
5 Substitutions Genomic: g.12607C>T
CDS: c.139C>T
AnimoAcid: p.Gln47X		 Substitutions NA Campagnoli MF et al., 2006
6 Substitutions Genomic: g.23731G>C
CDS: c.819G>C
AnimoAcid: p.Gln273His		 Substitutions NA Campagnoli MF et al., 2006
7 Substitutions Genomic: g.17305A>C
CDS: c.332A>C
AnimoAcid: p.His111Pro		 Substitutions NA Campagnoli MF et al., 2006
8 Substitutions Genomic: g.20220C>G
CDS: c.506-3C>G
AnimoAcid: 		Substitutions Direct sequencing Roesler J et al., 2005
9 Substitutions Genomic: g.23661G>A
CDS: c.749G>A
AnimoAcid: p.Arg250Gln		 Substitutions Direct sequencing van den Berg A et al., 2002
10 Substitutions Genomic: g.23634C>A
CDS: c.722C>A
AnimoAcid: p.Thr241Lys		 Substitutions Direct sequencing Aspinall AI et al., 1999
11 Substitutions Genomic: g.17192C>A
CDS: c.219C>A
AnimoAcid: p.Cys73X		 Substitutions Direct sequencing Jackson CE et al., 1999
12 Deletion Genomic: g.17208delG
CDS: c.235delG
AnimoAcid: p.Glu79AsnfsX35		 Deletion Direct sequencing Jackson CE et al., 1999
13 Deletion Genomic: g.21485_21495del11
CDS: c.585_595del11
AnimoAcid: p.Thr198AlafsX10		 Deletion Direct sequencing Jackson CE et al., 1999
14 Substitutions Genomic: g.22813G>A
CDS: c.652G>A
AnimoAcid: p.Pro217fs		 Substitutions Direct sequencing Jackson CE et al., 1999
15 Substitutions Genomic: g.23633A>C
CDS: c.721A>C
AnimoAcid: p.Thr241Pro		 Substitutions Direct sequencing Jackson CE et al., 1999
16 Substitutions Genomic: g.23634C>A
CDS: c.722C>A
AnimoAcid: p.Thr241Lys		 Substitutions Direct sequencing Jackson CE et al., 1999
17 Substitutions Genomic: g.23661G>A
CDS: c.749G>A
AnimoAcid: p.Arg250Gln		 Substitutions Direct sequencing Jackson CE et al., 1999
18 Substitutions Genomic: g.23661G>C
CDS: c.749G>C
AnimoAcid: p.Arg250Pro		 Substitutions Direct sequencing Jackson CE et al., 1999
19 Substitutions Genomic: g.23682C>A
CDS: c.770C>A
AnimoAcid: p.Ala257Asp		 Substitutions Direct sequencing Jackson CE et al., 1999
20 Substitutions Genomic: g.23729C>T
CDS: c.817C>T
AnimoAcid: p.Gln273X		 Substitutions Direct sequencing Jackson CE et al., 1999
21 Substitutions Genomic: g.23738C>T
CDS: c.826C>T
AnimoAcid: p.Gln276X		 Substitutions Direct sequencing Jackson CE et al., 1999
22 Deletion Genomic: g.23792delT
CDS: c.880delT
AnimoAcid: p.Leu294X		 Deletion Direct sequencing Jackson CE et al., 1999
23 Substitutions Genomic: g.23841T>G
CDS: c.929T>G
AnimoAcid: p.Ile310Ser		 Substitutions Direct sequencing Jackson CE et al., 1999
24 Substitutions Genomic: g.20008G>C
CDS: c.444-1G>C
AnimoAcid: p.Cys149AsnfsX31		 Substitutions Direct sequencing Jackson CE et al., 1999
25 Substitutions Genomic: g.21467A>C
CDS: c.569-2A>C
AnimoAcid: p.Lys191X		 Substitutions Direct sequencing Jackson CE et al., 1999
26 Deletion Genomic: g.17208delG
CDS: c.235delG
AnimoAcid: p.Glu79AsnfsX35		 Deletion Direct sequencing Fisher GH et al., 1995
27 Duplications Genomic: g.17309dupT
CDS: c.334+2dupT
AnimoAcid: p.[Glu67_Gly112del, Gly66AspfsX39]		 Duplications Direct sequencing Fisher GH et al., 1995
28 Substitutions Genomic: g.21467A>C
CDS: c.569-2A>C
AnimoAcid: p.Lys191X		 Substitutions Direct sequencing Fisher GH et al., 1995
29 Substitutions Genomic: g.23633A>C
CDS: c.721A>C
AnimoAcid: p.Thr241Pro		 Substitutions Direct sequencing Fisher GH et al., 1995
30 Substitutions Genomic: g.23729C>T
CDS: c.817C>T
AnimoAcid: p.Gln273X		 Substitutions Direct sequencing Fisher GH et al., 1995
31 Substitutions Genomic: g.23841T>G
CDS: c.929T>G
AnimoAcid: p.Ile310Ser		 Substitutions Direct sequencing Sneller MC et al., 1997
32 Substitutions Genomic: g.17192C>A
CDS: c.219C>A
AnimoAcid: p.Cys73X		 Substitutions Direct sequencing Sneller MC et al., 1997
33 Deletion Genomic: g.23721_23722delCA
CDS: c.809_810delCA
AnimoAcid: p.Thr270SerfsX10		 Deletion Direct sequencing Rieux-Laucat F et al., 1995
34 Substitutions Genomic: g.23691A>T
CDS: c.779A>T
AnimoAcid: p.Asp260Val		 Substitutions Direct sequencing Infante AJ et al., 1998
35 Substitutions Genomic: g.18385C>T
CDS: c.361C>T
AnimoAcid: p.Arg121Trp		 Substitutions Direct sequencing Bettinardi A et al., 1997
36 Substitutions Genomic: g.23607A>G
CDS: c.695A>G
AnimoAcid: p.Tyr232Cys		 Substitutions Direct sequencing Bettinardi A et al., 1997
37 Deletion Genomic: g.23620_23623delTGCT
CDS: c.708_711delTGCT
AnimoAcid: p.Ile236MetfsX4		 Deletion Denaturing gradient gel electrophoresis, Direct sequencing Gualco G et al., 2008
38 Substitutions Genomic: g.23690G>A
CDS: c.778G>A
AnimoAcid: p.Asp260Asn		 Substitutions Direct sequencing, SSCP Mullauer L et al., 2008
39 Substitutions Genomic: g.17217T>C
CDS: c.244T>C
AnimoAcid: p.Cys82Arg		 Substitutions Direct sequencing, PCR based assay, SSCP Vaishnaw AK et al., 1999
40 Duplications Genomic: g.12634_12640dupGGCCAAT
CDS: c.166_172dupGGCCAAT
AnimoAcid: p.Phe58fs		 Duplications Direct sequencing, PCR based assay, SSCP Vaishnaw AK et al., 1999
41 Substitutions Genomic: g.23589A>G
CDS: c.677A>G
AnimoAcid: p.Asp226Gly		 Substitutions Direct sequencing, PCR based assay, SSCP Vaishnaw AK et al., 1999
42 Substitutions Genomic: g.23661G>C
CDS: c.749G>C
AnimoAcid: p.Arg250Pro		 Substitutions Direct sequencing, PCR based assay, SSCP Vaishnaw AK et al., 1999
43 Substitutions Genomic: g.23721C>T
CDS: c.809C>T
AnimoAcid: p.Thr270Ile		 Substitutions Direct sequencing, PCR based assay, SSCP Vaishnaw AK et al., 1999
44 Substitutions Genomic: g.21553T>A
CDS: c.651+2T>A
AnimoAcid: p.Pro217fs		 Substitutions Direct sequencing, PCR based assay, SSCP Vaishnaw AK et al., 1999
45 Deletion Genomic: g.12514_12515delGC
CDS: c.46_47delGC
AnimoAcid: p.Ala16X		 Deletion Direct sequencing, PCR based assay Vaishnaw AK et al., 1999
46 Duplications Genomic: g.23880_23899dup20bp
CDS: c.968_987dup20bp
AnimoAcid: p.Glu330fsLys		 Duplications Direct sequencing, Heteroduplex analysis, PCR based assay, Southern blotting van der Burg M et al., 2000
47 Substitutions Genomic: g.23690G>T
CDS: c.778G>T
AnimoAcid: p.Asp260Tyr		 Substitutions Direct sequencing, PCR based assay, SSCP Drappa J et al., 1996
48 Substitutions Genomic: g.23660C>T
CDS: c.748C>T
AnimoAcid: p.Arg250X		 Substitutions Direct sequencing, PCR based assay, SSCP Drappa J et al., 1996
49 Insertion Genomic: g.23604_23605insT
CDS: c.692_693insT
AnimoAcid: p.Lys231fs		 Insertion Direct sequencing, PCR based assay, SSCP Drappa J et al., 1996
50 Substitutions Genomic: g.23726G>A
CDS: c.814G>A
AnimoAcid: p.Glu272Lys		 Substitutions Direct sequencing, PCR based assay, SSCP Rieux-Laucat F et al., 1999
51 Substitutions Genomic: g.22839T>C
CDS: c.676+2T>C
AnimoAcid: p.Glu218Metfs		 Substitutions Direct sequencing, PCR based assay, SSCP Rieux-Laucat F et al., 1999
52 Substitutions Genomic: g.23670G>A
CDS: c.758G>A
AnimoAcid: p.Gly253Asp		 Substitutions Direct sequencing, PCR based assay, SSCP Rieux-Laucat F et al., 1999
53 Substitutions Genomic: g.23688T>G
CDS: c.776T>G
AnimoAcid: p.Ile259Arg		 Substitutions Direct sequencing, PCR based assay, SSCP Rieux-Laucat F et al., 1999
54 Substitutions Genomic: g.23721C>A
CDS: c.809C>A
AnimoAcid: p.Thr270Lys		 Substitutions Direct sequencing, PCR based assay, SSCP Rieux-Laucat F et al., 1999
55 Duplications Genomic: g.23639_23642dupAGTC
CDS: c.727_730dupAGTC
AnimoAcid: p.Ser243fs		 Duplications Direct sequencing, PCR based assay, SSCP Rieux-Laucat F et al., 1999
56 Substitutions Genomic: g.23661G>C
CDS: c.749G>C
AnimoAcid: p.Arg250Pro		 Substitutions Direct sequencing, PCR based assay, SSCP Rieux-Laucat F et al., 1999
57 Deletion Genomic: g.23800delA
CDS: c.888delA
AnimoAcid: p.Asp297fs		 Deletion Direct sequencing, PCR based assay, SSCP Rieux-Laucat F et al., 1999
58 Substitutions Genomic: g.23657G>C
CDS: c.745G>C
AnimoAcid: p.Val249Leu		 Substitutions Direct sequencing, PCR based assay, SSCP Rieux-Laucat F et al., 1999
59 Substitutions Genomic: g.23669G>A
CDS: c.757G>A
AnimoAcid: p.Gly253Ser		 Substitutions Direct sequencing, PCR based assay, SSCP Rieux-Laucat F et al., 1999
60 Substitutions Genomic: g.17208G>T
CDS: c.235G>T
AnimoAcid: p.Glu79X		 Substitutions Direct sequencing, PCR based assay, SSCP Rieux-Laucat F et al., 1999
61 Substitutions Genomic: g.23675A>G
CDS: c.763A>G
AnimoAcid: p.Asn255Asp		 Substitutions Direct sequencing, PCR based assay, SSCP Lee SH et al., 2000
62 Substitutions Genomic: g.20249T>C
CDS: c.532T>C
AnimoAcid: p.Cys178Arg		 Substitutions Direct sequencing, PCR based assay, SSCP Lee SH et al., 2000
63 Substitutions Genomic: g.18377A>G
CDS: c.353A>G
AnimoAcid: p.Asn118Ser		 Substitutions Direct sequencing, PCR based assay, SSCP Lee SH et al., 2000
64 Substitutions Genomic: g.22838G>A
CDS: c.676+1G>A
AnimoAcid: p.Glu218MetfsX4		 Substitutions Allele-specific oligonucleotide hybridization analysis, Direct sequencing, PCR based assay Holzelova E et al., 2004
65 Substitutions Genomic: g.22813G>T
CDS: c.652G>T
AnimoAcid: p.Glu218X		 Substitutions Allele-specific oligonucleotide hybridization analysis, Direct sequencing, PCR based assay Holzelova E et al., 2004
66 Substitutions Genomic: g.23691A>T
CDS: c.779A>T
AnimoAcid: p.Asp260Val		 Substitutions Direct sequencing, PCR based assay Holzelova E et al., 2004
67 Substitutions Genomic: g.21531G>T
CDS: c.631G>T
AnimoAcid: p.Glu211X		 Substitutions Direct sequencing Dowdell KC et al., 2010
68 Deletion Genomic: g.22804_22814del11
CDS: c.652-9_653del11
AnimoAcid: p.Glu218MetfsX4		 Deletion Direct sequencing Dowdell KC et al., 2010
69 Substitutions Genomic: g.22812G>T
CDS: c.652-1G>T
AnimoAcid: p.Glu218MetfsX4		 Substitutions Direct sequencing Dowdell KC et al., 2010
70 Substitutions Genomic: g.23690G>A
CDS: c.778G>A
AnimoAcid: p.Asp260Asn		 Substitutions Direct sequencing Dowdell KC et al., 2010
71 Substitutions Genomic: g.22838G>A
CDS: c.676+1G>A
AnimoAcid: p.Glu218MetfsX4		 Substitutions Direct sequencing Dowdell KC et al., 2010
72 Deletion Genomic: g.22829_22836del8
CDS: c.668_675del8
AnimoAcid: p.Asn223ArgfsX3		 Deletion Direct sequencing Dowdell KC et al., 2010
73 Substitutions Genomic: g.22837G>T
CDS: c.676G>T
AnimoAcid: p.Glu218MetfsX4		 Substitutions Direct sequencing Dowdell KC et al., 2010
74 Deletion Genomic: g.22818_22819delAG
CDS: c.657_658delAG
AnimoAcid: p.Val220GlyfsX6		 Deletion Direct sequencing Dowdell KC et al., 2010
75 Substitutions Genomic: g.22832T>G
CDS: c.671T>G
AnimoAcid: p.Leu224X		 Substitutions Direct sequencing Dowdell KC et al., 2010
76 Substitutions Genomic: g.17305A>G
CDS: c.332A>G
AnimoAcid: p.His111Arg		 Substitutions Direct sequencing Dowdell KC et al., 2010
77 Substitutions Genomic: g.22812G>A
CDS: c.652-1G>A
AnimoAcid: p.Glu218MetfsX4		 Substitutions Direct sequencing Dowdell KC et al., 2010
78 Deletion Genomic: g.23594_23598del5
CDS: c.682_686del5
AnimoAcid: p.Asp228GlufsX2		 Deletion Direct sequencing Dowdell KC et al., 2010
79 Substitutions Genomic: g.23661G>C
CDS: c.749G>C
AnimoAcid: p.Arg250Pro		 Substitutions Direct sequencing Kuijpers TW et al., 2011
80 Substitutions Genomic: g.366T>C
CDS: c.20T>C
AnimoAcid: p.Leu7Pro		 Substitutions Direct sequencing Hsu AP et al., 2012
81 Substitutions Genomic: g.377G>A
CDS: c.30+1G>A
AnimoAcid: 		Substitutions Direct sequencing Hsu AP et al., 2012
82 Deletion Genomic: g.12514_12515delGC
CDS: c.46_47delGC
AnimoAcid: p.Ala16X		 Deletion Direct sequencing Hsu AP et al., 2012
83 Substitutions Genomic: g.12521T>G
CDS: c.53T>G
AnimoAcid: p.Leu18X		 Substitutions Direct sequencing Hsu AP et al., 2012
84 Insertion Genomic: g.12592insA
CDS: c.124insA
AnimoAcid: p.Thr42AsnfsX4		 Insertion Direct sequencing Hsu AP et al., 2012
85 Substitutions Genomic: g.12601G>T
CDS: c.133G>T
AnimoAcid: p.Glu45X		 Substitutions Direct sequencing Hsu AP et al., 2012
86 Substitutions Genomic: g.12657T>A
CDS: c.189T>A
AnimoAcid: p.Cys63X		 Substitutions Direct sequencing Hsu AP et al., 2012
87 Substitutions Genomic: g.17169G>A
CDS: c.197-1G>A
AnimoAcid: p.Pro65_Gly110del		 Substitutions Direct sequencing Hsu AP et al., 2012
88 Deletion Genomic: g.17225_17229delCTGCC
CDS: c.252_256delCTGCC
AnimoAcid: p.Cys85ArgfsX19		 Deletion Direct sequencing Hsu AP et al., 2012
89 Substitutions Genomic: g.17246C>A
CDS: c.273C>A
AnimoAcid: p.Tyr91X		 Substitutions Direct sequencing Hsu AP et al., 2012
90 Substitutions Genomic: g.17296A>G
CDS: c.323A>G
AnimoAcid: p.Asp108Gly		 Substitutions Direct sequencing Hsu AP et al., 2012
91 Substitutions Genomic: g.17305A>G
CDS: c.332A>G
AnimoAcid: p.His111Arg		 Substitutions Direct sequencing Hsu AP et al., 2012
92 Deletion-Insertion Genomic: g.18421_18422delTTinsA
CDS: c.397_398delTTinsA
AnimoAcid: p.Phe133Ilefs		 Deletion-Insertion Direct sequencing Hsu AP et al., 2012
93 Substitutions Genomic: g.18428G>A
CDS: c.404G>A
AnimoAcid: p.Cys135Tyr		 Substitutions Direct sequencing Hsu AP et al., 2012
94 Substitutions Genomic: g.18472G>A
CDS: c.443+5G>A
AnimoAcid: p.Gly66Aspfs		 Substitutions Direct sequencing Hsu AP et al., 2012
95 Deletion-Insertion Genomic: g.20040_20054delinsA
CDS: c.475_489delinsA
AnimoAcid: p.Leu159LysfsX10		 Deletion-Insertion Direct sequencing Hsu AP et al., 2012
96 Substitutions Genomic: g.20217C>G
CDS: c.506-6C>G
AnimoAcid: p.Gly169_Trp189del		 Substitutions Direct sequencing Hsu AP et al., 2012
97 Substitutions Genomic: g.20207A>G
CDS: c.506-16A>G
AnimoAcid: p.Gly169_Trp189del		 Substitutions Direct sequencing Hsu AP et al., 2012
98 Deletion Genomic: g.20239delGGGG
CDS: c.522delGGGG
AnimoAcid: p.Leu174PhefsX12		 Deletion Direct sequencing Hsu AP et al., 2012
99 Substitutions Genomic: g.20245G>A
CDS: c.528G>A
AnimoAcid: p.Trp176X		 Substitutions Direct sequencing Hsu AP et al., 2012
100 Substitutions Genomic: g.21464T>G
CDS: c.569-5T>G
AnimoAcid: p.Val190GlyfsX7		 Substitutions Direct sequencing Hsu AP et al., 2012
101 Insertion Genomic: g.21485insA
CDS: c.585insA
AnimoAcid: p.Gln196ThrfsX16		 Insertion Direct sequencing Hsu AP et al., 2012
102 Substitutions Genomic: g.21507A>T
CDS: c.607A>T
AnimoAcid: p.Arg203X		 Substitutions Direct sequencing Hsu AP et al., 2012
103 Substitutions Genomic: g.21556G>T
CDS: c.651+5G>T
AnimoAcid: p.Val190Glyfs		 Substitutions Direct sequencing Hsu AP et al., 2012
104 Substitutions Genomic: g.21553T>A
CDS: c.651+2T>A
AnimoAcid: p.Val190Glyfs		 Substitutions Direct sequencing Hsu AP et al., 2012
105 Substitutions Genomic: g.21552G>A
CDS: c.651+1G>A
AnimoAcid: p.Val190Glyfs		 Substitutions Direct sequencing Hsu AP et al., 2012
106 Substitutions Genomic: g.22839T>C
CDS: c.676+2T>C
AnimoAcid: p.Glu218Metfs		 Substitutions Direct sequencing Hsu AP et al., 2012
107 Substitutions Genomic: g.22838G>A
CDS: c.676+1G>A
AnimoAcid: p.Glu218Metfs		 Substitutions Direct sequencing Hsu AP et al., 2012
108 Substitutions Genomic: g.22838G>T
CDS: c.676+1G>T
AnimoAcid: p.Glu218Metfs		 Substitutions Direct sequencing Hsu AP et al., 2012
109 Deletion Genomic: g.23897_23925del28
CDS: c.985_1008*4del28
AnimoAcid: p.Asn329Lysfs		 Deletion Direct sequencing Hsu AP et al., 2012
110 Deletion-Insertion Genomic: g.23598_23606delTGAGTAAATinsGAG
CDS: c.686_694delTGAGTAAATinsGAG
AnimoAcid: p.Leu229X		 Deletion-Insertion Direct sequencing Hsu AP et al., 2012
111 Deletion Genomic: g.17297_17299delTGA
CDS: c.324_326delTGA
AnimoAcid: p.Asp108del		 Deletion Direct sequencing Hsu AP et al., 2012
112 Substitutions Genomic: g.17293G>A
CDS: c.320G>A
AnimoAcid: p.Cys107Tyr		 Substitutions Direct sequencing Simesen de Bielke MG et al., 2012
113 Substitutions Genomic: g.12568G>T
CDS: c.100G>T
AnimoAcid: p.Gly34X		 Substitutions Direct sequencing Magerus-Chatinet A et al., 2011
114 Substitutions Genomic: g.18371A>G
CDS: c.347A>G
AnimoAcid: p.Glu116Gly		 Substitutions Direct sequencing Magerus-Chatinet A et al., 2011
115 Substitutions Genomic: g.23621G>C
CDS: c.709G>C
AnimoAcid: p.Ala237Pro		 Substitutions Direct sequencing Magerus-Chatinet A et al., 2011
116 Deletion Genomic: g.20223-?_20285+?del
CDS: c.506-?_568+?del
AnimoAcid: 		Deletion Direct sequencing Magerus-Chatinet A et al., 2011
117 Substitutions Genomic: g.17293G>A
CDS: c.320G>A
AnimoAcid: p.Cys107Tyr		 Substitutions Direct sequencing Magerus-Chatinet A et al., 2011
118 Substitutions Genomic: g.17283T>G
CDS: c.310T>G
AnimoAcid: p.Cys104Gly		 Substitutions Direct sequencing Magerus-Chatinet A et al., 2011
119 Substitutions Genomic: g.20036C>A
CDS: c.471C>A
AnimoAcid: p.Cys157X		 Substitutions Direct sequencing Magerus-Chatinet A et al., 2011
120 Substitutions Genomic: g.23673T>G
CDS: c.761T>G
AnimoAcid: p.Val254Gly		 Substitutions Sanger Sequencing Hansford JR et al., 2012