IL2RG
Primary Info
Mutation
Mouse studies
DNA sequencing


SI.No Mutation type Mutation change Mutation effects Expt Name PubMed
1 Substitutions Genomic: g.2350C>T
CDS: c.703C>T
AnimoAcid: p.Gln235X		 Substitutions SSCP Clark PA et al., 1995
2 Substitutions Genomic: g.1430T>C
CDS: c.548T>C
AnimoAcid: p.Leu183Ser		 Substitutions SSCP Clark PA et al., 1995
3 Substitutions Genomic: g.1477G>A
CDS: c.594+1G>A
AnimoAcid: 		Substitutions SSCP Clark PA et al., 1995
4 Insertion Genomic: g.671_672insT
CDS: c.205_206insT
AnimoAcid: p.Tyr69LeufsX11		 Insertion SSCP Clark PA et al., 1995
5 Deletion Genomic: g.2344delA
CDS: c.697delA
AnimoAcid: p.[Ser233ValfsX40; Ser233ValfsX38]		 Deletion Direct sequencing, PCR based assay Markiewicz S et al., 1994
6 Substitutions Genomic: g.707C>T
CDS: c.241C>T
AnimoAcid: p.Gln81X		 Substitutions Direct sequencing, PCR based assay Markiewicz S et al., 1994
7 Substitutions Genomic: g.1104C>T
CDS: c.430C>T
AnimoAcid: p.Gln144X		 Substitutions Direct sequencing, PCR based assay Markiewicz S et al., 1994
8 Substitutions Genomic: g.668G>A
CDS: c.202G>A
AnimoAcid: p.Glu68Lys		 Substitutions Direct sequencing, PCR based assay Markiewicz S et al., 1994
9 Substitutions Genomic: g.1017T>C
CDS: c.343T>C
AnimoAcid: p.Cys115Arg		 Substitutions Direct sequencing Stephan V et al., 1996
10 Insertion Genomic: g.1033_1034insT
CDS: c.359_360insT
AnimoAcid: p.Lys120AsnfsX47		 Insertion Fluorescent sequencing Niemela JE et al., 2000
11 Deletion Genomic: g.1035delG
CDS: c.361delG
AnimoAcid: p.Glu121ArgfsX25		 Deletion Fluorescent sequencing Niemela JE et al., 2000
12 Substitutions Genomic: g.1111T>C
CDS: c.437T>C
AnimoAcid: p.Leu146Pro		 Substitutions Fluorescent sequencing Niemela JE et al., 2000
13 Substitutions Genomic: g.2323C>T
CDS: c.676C>T
AnimoAcid: p.Arg226Cys		 Substitutions Direct sequencing, SSCP Pepper AE et al., 1995
14 Substitutions Genomic: g.2324G>A
CDS: c.677G>A
AnimoAcid: p.Arg226His		 Substitutions Direct sequencing, SSCP Pepper AE et al., 1995
15 Substitutions Genomic: g.3296C>T
CDS: c.865C>T
AnimoAcid: p.Arg289X		 Substitutions Direct sequencing, SSCP Pepper AE et al., 1995
16 Duplications Genomic: g.2350_2358dupCAGCATTGG
CDS: c.703_711dupCAGCATTGG
AnimoAcid: p.Gln235_Trp237dup		 Duplications Direct sequencing, SSCP Puck JM et al., 1995
17 Substitutions Genomic: g.2981G>C
CDS: c.802G>C
AnimoAcid: p.Gly268Arg		 Substitutions Direct sequencing Kellermayer R et al., 2006
18 Substitutions Genomic: g.1002G>T
CDS: c.328G>T
AnimoAcid: p.Glu110X		 Substitutions Fluorescent sequencing Niemela JE et al., 2000
19 Deletion Genomic: g.986delC
CDS: c.312delC
AnimoAcid: p.Tyr105IlefsX41		 Deletion Fluorescent sequencing Niemela JE et al., 2000
20 Substitutions Genomic: g.1066A>C
CDS: c.392A>C
AnimoAcid: p.Gln131Pro		 Substitutions Fluorescent sequencing Niemela JE et al., 2000
21 Deletion-Insertion Genomic: g.1094delAinsCT
CDS: c.420delAinsCT
AnimoAcid: p.Arg140SerfsX27		 Deletion-Insertion Fluorescent sequencing Niemela JE et al., 2000
22 Deletion Genomic: g.1319_1330del
CDS: c.455-18_455-7del
AnimoAcid: 		Deletion Fluorescent sequencing Niemela JE et al., 2000
23 Substitutions Genomic: g.2323C>T
CDS: c.676C>T
AnimoAcid: p.Arg226Cys		 Substitutions Direct sequencing Kumaki S et al., 1995
24 Deletion Genomic: g.944_950del
CDS: c.270_276del
AnimoAcid: p.Trp90fs		 Deletion Direct sequencing Kumaki S et al., 1995
25 Substitutions Genomic: g.718C>G
CDS: c.252C>G
AnimoAcid: p.Asn84Lys		 Substitutions Direct sequencing, SSCP Fugmann SD et al., 1998
26 Substitutions Genomic: g.979G>A
CDS: c.305G>A
AnimoAcid: p.Cys102Tyr		 Substitutions Direct sequencing, SSCP Fugmann SD et al., 1998
27 Substitutions Genomic: g.1071C>T
CDS: c.397C>T
AnimoAcid: p.Gln133X		 Substitutions Direct sequencing, SSCP Fugmann SD et al., 1998
28 Substitutions Genomic: g.1418T>A
CDS: c.536T>A
AnimoAcid: p.Leu179X		 Substitutions Direct sequencing, SSCP Fugmann SD et al., 1998
29 Substitutions Genomic: g.1444C>T
CDS: c.562C>T
AnimoAcid: p.Gln188X		 Substitutions Direct sequencing, SSCP Fugmann SD et al., 1998
30 Deletion Genomic: g.2342delG
CDS: c.695delG
AnimoAcid: p.Gly232fs		 Deletion Direct sequencing, SSCP Fugmann SD et al., 1998
31 Substitutions Genomic: g.3013T>G
CDS: c.834T>G
AnimoAcid: p.Cys278Trp		 Substitutions Direct sequencing, SSCP Fugmann SD et al., 1998
32 Substitutions Genomic: g.3033G>A
CDS: c.854G>A
AnimoAcid: p.Arg285Gln		 Substitutions Direct sequencing, SSCP Fugmann SD et al., 1998
33 Deletion Genomic: g.3333delC
CDS: c.902delC
AnimoAcid: p.Thr301fs		 Deletion Direct sequencing, SSCP Fugmann SD et al., 1998
34 Deletion Genomic: g.3708_3710delTAG
CDS: c.925-3_925-1delTAG
AnimoAcid: 		Deletion Direct sequencing Fugmann SD et al., 1998
35 Substitutions Genomic: g.2323C>T
CDS: c.676C>T
AnimoAcid: p.Arg226Cys		 Substitutions Direct sequencing, SSCP Fugmann SD et al., 1998
36 Substitutions Genomic: g.2317C>T
CDS: c.670C>T
AnimoAcid: p.Arg224Trp		 Substitutions Direct sequencing, SSCP O Marcaigh AS et al., 1997
37 Substitutions Genomic: g.208G>C
CDS: c.115+1G>C
AnimoAcid: 		Substitutions Direct sequencing, Heteroduplex analysis, SSCP Wengler GS et al., 1998
38 Substitutions Genomic: g.686T>G
CDS: c.220T>G
AnimoAcid: p.Trp74Gly		 Substitutions Direct sequencing, Heteroduplex analysis, SSCP Wengler GS et al., 1998
39 Deletion Genomic: g.650_671del
CDS: c.184_205del
AnimoAcid: p.Cys62fs		 Deletion Direct sequencing, Heteroduplex analysis, SSCP Wengler GS et al., 1998
40 Substitutions Genomic: g.1068C>T
CDS: c.394C>T
AnimoAcid: p.Leu132Phe		 Substitutions Direct sequencing, Heteroduplex analysis, SSCP Wengler GS et al., 1998
41 Deletion Genomic: g.1015delG
CDS: c.341delG
AnimoAcid: p.Gly114fs		 Deletion Direct sequencing, Heteroduplex analysis, SSCP Wengler GS et al., 1998
42 Substitutions Genomic: g.1430T>C
CDS: c.548T>C
AnimoAcid: p.Leu183Ser		 Substitutions Direct sequencing, Heteroduplex analysis, SSCP Wengler GS et al., 1998
43 Substitutions Genomic: g.1367T>G
CDS: c.485T>G
AnimoAcid: p.Leu162Arg		 Substitutions Direct sequencing, Heteroduplex analysis, SSCP Wengler GS et al., 1998
44 Substitutions Genomic: g.1479G>C
CDS: c.594+3G>C
AnimoAcid: 		Substitutions Direct sequencing, Heteroduplex analysis, SSCP Wengler GS et al., 1998
45 Substitutions Genomic: g.2317C>T
CDS: c.670C>T
AnimoAcid: p.Arg224Trp		 Substitutions Direct sequencing, Heteroduplex analysis, SSCP Wengler GS et al., 1998
46 Substitutions Genomic: g.1029A>T
CDS: c.355A>T
AnimoAcid: p.Lys119X		 Substitutions Dideoxy fingerprinting Noguchi M et al., 1993
47 Substitutions Genomic: g.3296C>T
CDS: c.865C>T
AnimoAcid: p.Arg289X		 Substitutions Dideoxy fingerprinting Noguchi M et al., 1993
48 Substitutions Genomic: g.3354C>A
CDS: c.923C>A
AnimoAcid: p.Ser308X		 Substitutions Dideoxy fingerprinting Noguchi M et al., 1993
49 Substitutions Genomic: g.668G>A
CDS: c.202G>A
AnimoAcid: p.Glu68Lys		 Substitutions Dideoxy fingerprinting Kumaki S et al., 2000
50 Substitutions Genomic: g.737T>C
CDS: c.269+2T>C
AnimoAcid: 		Substitutions Dideoxy fingerprinting Kumaki S et al., 2000
51 Substitutions Genomic: g.929A>G
CDS: c.270-15A>G
AnimoAcid: 		Substitutions Dideoxy fingerprinting Kumaki S et al., 2000
52 Substitutions Genomic: g.946A>G
CDS: c.272A>G
AnimoAcid: p.Tyr91Cys		 Substitutions Dideoxy fingerprinting Kumaki S et al., 2000
53 Substitutions Genomic: g.996T>C
CDS: c.322T>C
AnimoAcid: p.Ser108Pro		 Substitutions Dideoxy fingerprinting Kumaki S et al., 2000
54 Substitutions Genomic: g.1104C>T
CDS: c.430C>T
AnimoAcid: p.Gln144X		 Substitutions Dideoxy fingerprinting Kumaki S et al., 2000
55 Substitutions Genomic: g.1337T>C
CDS: c.455T>C
AnimoAcid: p.Val152Ala		 Substitutions Dideoxy fingerprinting Kumaki S et al., 2000
56 Substitutions Genomic: g.1349C>T
CDS: c.467C>T
AnimoAcid: p.Ala156Val		 Substitutions Dideoxy fingerprinting Kumaki S et al., 2000
57 Substitutions Genomic: g.1436A>G
CDS: c.554A>G
AnimoAcid: p.His185Arg		 Substitutions Dideoxy fingerprinting Kumaki S et al., 2000
58 Deletion Genomic: g.1450_1464del
CDS: c.568_582del
AnimoAcid: p.Arg190_Asp194del		 Deletion Dideoxy fingerprinting Kumaki S et al., 2000
59 Duplications Genomic: g.2247_2250dupATCA
CDS: c.600_603dupATCA
AnimoAcid: p.Val202IlefsX4		 Duplications Dideoxy fingerprinting Kumaki S et al., 2000
60 Substitutions Genomic: g.2323C>T
CDS: c.676C>T
AnimoAcid: p.Arg226Cys		 Substitutions Dideoxy fingerprinting Kumaki S et al., 2000
61 Substitutions Genomic: g.2324G>A
CDS: c.677G>A
AnimoAcid: p.Arg226His		 Substitutions Dideoxy fingerprinting Kumaki S et al., 2000
62 Substitutions Genomic: g.2350C>T
CDS: c.703C>T
AnimoAcid: p.Gln235X		 Substitutions Dideoxy fingerprinting Kumaki S et al., 2000
63 Substitutions Genomic: g.2405G>T
CDS: c.757+1G>T
AnimoAcid: 		Substitutions Dideoxy fingerprinting Kumaki S et al., 2000
64 Deletion Genomic: g.2995_2998delGATT
CDS: c.816_819delGATT
AnimoAcid: p.Ile273SerfsX19		 Deletion Dideoxy fingerprinting Kumaki S et al., 2000
65 Duplications Genomic: g.3003dupG
CDS: c.824dupG
AnimoAcid: p.Ser275ArgfsX27		 Duplications Dideoxy fingerprinting Kumaki S et al., 2000
66 Substitutions Genomic: g.3033G>A
CDS: c.854G>A
AnimoAcid: p.Arg285Gln		 Substitutions Dideoxy fingerprinting Kumaki S et al., 2000
67 Substitutions Genomic: g.3340C>A
CDS: c.909C>A
AnimoAcid: p.Tyr303X		 Substitutions Dideoxy fingerprinting Kumaki S et al., 2000
68 Duplications Genomic: g.3346dupG
CDS: c.915dupG
AnimoAcid: p.Asn306GlufsX9		 Duplications Dideoxy fingerprinting Kumaki S et al., 2000
69 Deletion Genomic: g.3744_3745delAG
CDS: c.958_959delAG
AnimoAcid: p.Leu321AlafsX5		 Deletion Dideoxy fingerprinting Kumaki S et al., 2000
70 Substitutions Genomic: g.688G>C
CDS: c.222G>C
AnimoAcid: p.Trp74Cys		 Substitutions Fluorescent sequencing Niemela JE et al., 2000
71 Substitutions Genomic: g.707C>T
CDS: c.241C>T
AnimoAcid: p.Gln81X		 Substitutions Fluorescent sequencing Niemela JE et al., 2000
72 Deletion Genomic: g.721_727del
CDS: c.255_261del
AnimoAcid: p.Thr86fs		 Deletion Fluorescent sequencing Niemela JE et al., 2000
73 Deletion Genomic: g.736delG
CDS: c.269+1delG
AnimoAcid: 		Deletion Fluorescent sequencing Niemela JE et al., 2000
74 Substitutions Genomic: g.947C>A
CDS: c.273C>A
AnimoAcid: p.Tyr91X		 Substitutions Fluorescent sequencing Niemela JE et al., 2000
75 Deletion Genomic: g.947_948delCA
CDS: c.273_274delCA
AnimoAcid: p.Tyr91X		 Deletion Fluorescent sequencing Niemela JE et al., 2000
76 Substitutions Genomic: g.966A>G
CDS: c.292A>G
AnimoAcid: p.Lys98Glu		 Substitutions Fluorescent sequencing Niemela JE et al., 2000
77 Deletion Genomic: g.1348delG
CDS: c.466delG
AnimoAcid: p.Ala156LeufsX4		 Deletion Fluorescent sequencing Niemela JE et al., 2000
78 Substitutions Genomic: g.1351C>T
CDS: c.469C>T
AnimoAcid: p.Pro157Ser		 Substitutions Fluorescent sequencing Niemela JE et al., 2000
79 Substitutions Genomic: g.1403G>A
CDS: c.521G>A
AnimoAcid: p.Trp174X		 Substitutions Fluorescent sequencing Niemela JE et al., 2000
80 Substitutions Genomic: g.1404G>A
CDS: c.522G>A
AnimoAcid: p.Trp174X		 Substitutions Fluorescent sequencing Niemela JE et al., 2000
81 Substitutions Genomic: g.1426T>C
CDS: c.544T>C
AnimoAcid: p.Cys182Arg		 Substitutions Fluorescent sequencing Niemela JE et al., 2000
82 Substitutions Genomic: g.1479G>T
CDS: c.594+3G>T
AnimoAcid: 		Substitutions Fluorescent sequencing Niemela JE et al., 2000
83 Substitutions Genomic: g.2241G>C
CDS: c.595-1G>C
AnimoAcid: 		Substitutions Fluorescent sequencing Niemela JE et al., 2000
84 Substitutions Genomic: g.2249C>G
CDS: c.602C>G
AnimoAcid: p.Ser201X		 Substitutions Fluorescent sequencing Niemela JE et al., 2000
85 Substitutions Genomic: g.2339G>A
CDS: c.692G>A
AnimoAcid: p.Cys231Tyr		 Substitutions Fluorescent sequencing Niemela JE et al., 2000
86 Substitutions Genomic: g.2356T>C
CDS: c.709T>C
AnimoAcid: p.Trp237Arg		 Substitutions Fluorescent sequencing Niemela JE et al., 2000
87 Substitutions Genomic: g.2385G>A
CDS: c.738G>A
AnimoAcid: p.Trp246X		 Substitutions Fluorescent sequencing Niemela JE et al., 2000
88 Substitutions Genomic: g.2936G>C
CDS: c.758-1G>C
AnimoAcid: 		Substitutions Fluorescent sequencing Niemela JE et al., 2000
89 Substitutions Genomic: g.2991G>A
CDS: c.812G>A
AnimoAcid: p.Gly271Glu		 Substitutions Fluorescent sequencing Niemela JE et al., 2000
90 Deletion Genomic: g.2994delT
CDS: c.815delT
AnimoAcid: p.Leu272X		 Deletion Fluorescent sequencing Niemela JE et al., 2000
91 Substitutions Genomic: g.3035T>C
CDS: c.854+2T>C
AnimoAcid: 		Substitutions Fluorescent sequencing Niemela JE et al., 2000
92 Substitutions Genomic: g.3357T>G
CDS: c.924+2T>G
AnimoAcid: 		Substitutions Fluorescent sequencing Niemela JE et al., 2000
93 Substitutions Genomic: g.3761C>G
CDS: c.975C>G
AnimoAcid: p.Tyr325X		 Substitutions Fluorescent sequencing Niemela JE et al., 2000
94 Deletion Genomic: g.3772_3779del
CDS: c.986_993del
AnimoAcid: p.Leu329ArgfsX2		 Deletion Fluorescent sequencing Niemela JE et al., 2000
95 Substitutions Genomic: g.95G>A
CDS: c.3G>A
AnimoAcid: p.Met1Ile		 Substitutions Dideoxy fingerprinting, Direct sequencing, SSCP Puck JM et al., 1997
96 Substitutions Genomic: g.652T>A
CDS: c.186T>A
AnimoAcid: p.Cys62X		 Substitutions Dideoxy fingerprinting, Direct sequencing, SSCP Puck JM et al., 1997
97 Substitutions Genomic: g.668G>A
CDS: c.202G>A
AnimoAcid: p.Glu68Lys		 Substitutions Dideoxy fingerprinting, Direct sequencing, SSCP Puck JM et al., 1997
98 Substitutions Genomic: g.732A>G
CDS: c.266A>G
AnimoAcid: p.Tyr89Cys		 Substitutions Dideoxy fingerprinting, Direct sequencing, SSCP Puck JM et al., 1997
99 Substitutions Genomic: g.1015G>A
CDS: c.341G>A
AnimoAcid: p.Gly114Asp		 Substitutions Dideoxy fingerprinting, Direct sequencing, SSCP Puck JM et al., 1997
100 Substitutions Genomic: g.1020C>T
CDS: c.346C>T
AnimoAcid: p.Gln116X		 Substitutions Dideoxy fingerprinting, Direct sequencing, SSCP Puck JM et al., 1997
101 Substitutions Genomic: g.1029A>T
CDS: c.355A>T
AnimoAcid: p.Lys119X		 Substitutions Dideoxy fingerprinting, Direct sequencing, SSCP Puck JM et al., 1997
102 Substitutions Genomic: g.1065C>T
CDS: c.391C>T
AnimoAcid: p.Gln131X		 Substitutions Dideoxy fingerprinting, Direct sequencing, SSCP Puck JM et al., 1997
103 Substitutions Genomic: g.1095C>T
CDS: c.421C>T
AnimoAcid: p.Gln141X		 Substitutions Dideoxy fingerprinting, Direct sequencing, SSCP Puck JM et al., 1997
104 Substitutions Genomic: g.1104C>T
CDS: c.430C>T
AnimoAcid: p.Gln144X		 Substitutions Dideoxy fingerprinting, Direct sequencing, SSCP Puck JM et al., 1997
105 Substitutions Genomic: g.1105A>C
CDS: c.431A>C
AnimoAcid: p.Gln144Pro		 Substitutions Dideoxy fingerprinting, Direct sequencing, SSCP Puck JM et al., 1997
106 Substitutions Genomic: g.1340T>A
CDS: c.458T>A
AnimoAcid: p.Ile153Asn		 Substitutions Dideoxy fingerprinting, Direct sequencing, SSCP Puck JM et al., 1997
107 Substitutions Genomic: g.1367T>A
CDS: c.485T>A
AnimoAcid: p.Leu162His		 Substitutions Dideoxy fingerprinting, Direct sequencing, SSCP Puck JM et al., 1997
108 Substitutions Genomic: g.1397T>C
CDS: c.515T>C
AnimoAcid: p.Leu172Pro		 Substitutions Dideoxy fingerprinting, Direct sequencing, SSCP Puck JM et al., 1997
109 Substitutions Genomic: g.1397T>A
CDS: c.515T>A
AnimoAcid: p.Leu172Gln		 Substitutions Dideoxy fingerprinting, Direct sequencing, SSCP Puck JM et al., 1997
110 Substitutions Genomic: g.1418T>A
CDS: c.536T>A
AnimoAcid: p.Leu179X		 Substitutions Dideoxy fingerprinting, Direct sequencing, SSCP Puck JM et al., 1997
111 Substitutions Genomic: g.1420A>C
CDS: c.538A>C
AnimoAcid: p.Asn180His		 Substitutions Dideoxy fingerprinting, Direct sequencing, SSCP Puck JM et al., 1997
112 Substitutions Genomic: g.1444C>T
CDS: c.562C>T
AnimoAcid: p.Gln188X		 Substitutions Dideoxy fingerprinting, Direct sequencing, SSCP Puck JM et al., 1997
113 Substitutions Genomic: g.1449C>A
CDS: c.567C>A
AnimoAcid: p.Tyr189X		 Substitutions Dideoxy fingerprinting, Direct sequencing, SSCP Puck JM et al., 1997
114 Substitutions Genomic: g.1461G>A
CDS: c.579G>A
AnimoAcid: p.Trp193X		 Substitutions Dideoxy fingerprinting, Direct sequencing, SSCP Puck JM et al., 1997
115 Substitutions Genomic: g.2293C>T
CDS: c.646C>T
AnimoAcid: p.Gln216X		 Substitutions Dideoxy fingerprinting, Direct sequencing, SSCP Puck JM et al., 1997
116 Substitutions Genomic: g.2317C>T
CDS: c.670C>T
AnimoAcid: p.Arg224Trp		 Substitutions Dideoxy fingerprinting, Direct sequencing, SSCP Puck JM et al., 1997
117 Substitutions Genomic: g.2323C>T
CDS: c.676C>T
AnimoAcid: p.Arg226Cys		 Substitutions Dideoxy fingerprinting, Direct sequencing, SSCP Puck JM et al., 1997
118 Substitutions Genomic: g.2324G>A
CDS: c.677G>A
AnimoAcid: p.Arg226His		 Substitutions Dideoxy fingerprinting, Direct sequencing, SSCP Puck JM et al., 1997
119 Substitutions Genomic: g.2327T>G
CDS: c.680T>G
AnimoAcid: p.Phe227Cys		 Substitutions Dideoxy fingerprinting, Direct sequencing, SSCP Puck JM et al., 1997
120 Substitutions Genomic: g.2336T>C
CDS: c.689T>C
AnimoAcid: p.Leu230Pro		 Substitutions Dideoxy fingerprinting, Direct sequencing, SSCP Puck JM et al., 1997
121 Substitutions Genomic: g.2341G>A
CDS: c.694G>A
AnimoAcid: p.Gly232Arg		 Substitutions Dideoxy fingerprinting, Direct sequencing, SSCP Puck JM et al., 1997
122 Substitutions Genomic: g.2350C>T
CDS: c.703C>T
AnimoAcid: p.Gln235X		 Substitutions Dideoxy fingerprinting, Direct sequencing, SSCP Puck JM et al., 1997
123 Substitutions Genomic: g.2369G>T
CDS: c.722G>T
AnimoAcid: p.Ser241Ile		 Substitutions Dideoxy fingerprinting, Direct sequencing, SSCP Puck JM et al., 1997
124 Substitutions Genomic: g.2988T>G
CDS: c.809T>G
AnimoAcid: p.Met270Arg		 Substitutions Dideoxy fingerprinting, Direct sequencing, SSCP Puck JM et al., 1997
125 Substitutions Genomic: g.3033G>A
CDS: c.854G>A
AnimoAcid: p.Arg285Gln		 Substitutions Dideoxy fingerprinting, Direct sequencing, SSCP Puck JM et al., 1997
126 Substitutions Genomic: g.3296C>T
CDS: c.865C>T
AnimoAcid: p.Arg289X		 Substitutions Dideoxy fingerprinting, Direct sequencing, SSCP Puck JM et al., 1997
127 Substitutions Genomic: g.3750C>T
CDS: c.964C>T
AnimoAcid: p.Gln322X		 Substitutions Dideoxy fingerprinting, Direct sequencing, SSCP Puck JM et al., 1997
128 Deletion Genomic: g.145_146delTG
CDS: c.53_54delTG
AnimoAcid: p.Leu18ProfsX15		 Deletion Dideoxy fingerprinting, Direct sequencing, SSCP Puck JM et al., 1997
129 Deletion Genomic: g.592delG
CDS: c.126delG
AnimoAcid: p.Thr43ProfsX27		 Deletion Dideoxy fingerprinting, Direct sequencing, SSCP Puck JM et al., 1997
130 Duplications Genomic: g.1033dupA
CDS: c.359dupA
AnimoAcid: p.Glu121GlyfsX46		 Duplications Dideoxy fingerprinting, Direct sequencing, SSCP Puck JM et al., 1997
131 Deletion Genomic: g.1058delT
CDS: c.384delT
AnimoAcid: p.Phe128LeufsX18		 Deletion Dideoxy fingerprinting, Direct sequencing, SSCP Puck JM et al., 1997
132 Deletion Genomic: g.1066_1069delAGCT
CDS: c.392_395delAGCT
AnimoAcid: p.Gln131ProfsX14		 Deletion Dideoxy fingerprinting, Direct sequencing, SSCP Puck JM et al., 1997
133 Deletion Genomic: g.1107delA
CDS: c.433delA
AnimoAcid: p.Met145CysfsX1		 Deletion Dideoxy fingerprinting, Direct sequencing, SSCP Puck JM et al., 1997
134 Deletion Genomic: g.1402_1407delTGGAAC
CDS: c.520_525delTGGAAC
AnimoAcid: p.Trp174_Asn175del		 Deletion Dideoxy fingerprinting, Direct sequencing, SSCP Puck JM et al., 1997
135 Deletion Genomic: g.1410_1411delCA
CDS: c.528_529delCA
AnimoAcid: p.Asn176LysfsX3		 Deletion Dideoxy fingerprinting, Direct sequencing, SSCP Puck JM et al., 1997
136 Deletion Genomic: g.2340_2341delTG
CDS: c.693_694delTG
AnimoAcid: p.Cys231TrpfsX7		 Deletion Dideoxy fingerprinting, Direct sequencing, SSCP Puck JM et al., 1997
137 Duplications Genomic: g.2350_2358dupCAGCATTGG
CDS: c.703_711dupCAGCATTGG
AnimoAcid: p.Gln235_Trp237dup		 Duplications Dideoxy fingerprinting, Direct sequencing, SSCP Puck JM et al., 1997
138 Deletion Genomic: g.2998delT
CDS: c.819delT
AnimoAcid: p.Ile274SerfsX19		 Deletion Dideoxy fingerprinting, Direct sequencing, SSCP Puck JM et al., 1997
139 Duplications Genomic: g.2999_3000dupAT
CDS: c.820_821dupAT
AnimoAcid: p.Leu276AlafsX18		 Duplications Dideoxy fingerprinting, Direct sequencing, SSCP Puck JM et al., 1997
140 Deletion Genomic: g.3016_3017delGT
CDS: c.837_838delGT
AnimoAcid: p.Tyr280PhefsX21		 Deletion Dideoxy fingerprinting, Direct sequencing, SSCP Puck JM et al., 1997
141 Duplications Genomic: g.3338_3339dupTA
CDS: c.907_908dupTA
AnimoAcid: p.Tyr303ProfsX11		 Duplications Dideoxy fingerprinting, Direct sequencing, SSCP Puck JM et al., 1997
142 Deletion Genomic: g.3341delC
CDS: c.910delC
AnimoAcid: p.His304ThrfsX61		 Deletion Dideoxy fingerprinting, Direct sequencing, SSCP Puck JM et al., 1997
143 Substitutions Genomic: g.208G>A
CDS: c.115+1G>A
AnimoAcid: 		Substitutions Dideoxy fingerprinting, Direct sequencing, SSCP Puck JM et al., 1997
144 Substitutions Genomic: g.209T>C
CDS: c.115+2T>C
AnimoAcid: 		Substitutions Dideoxy fingerprinting, Direct sequencing, SSCP Puck JM et al., 1997
145 Substitutions Genomic: g.736G>A
CDS: c.269+1G>A
AnimoAcid: 		Substitutions Dideoxy fingerprinting, Direct sequencing, SSCP Puck JM et al., 1997
146 Substitutions Genomic: g.929A>G
CDS: c.270-15A>G
AnimoAcid: 		Substitutions Dideoxy fingerprinting, Direct sequencing, SSCP Puck JM et al., 1997
147 Substitutions Genomic: g.1129G>A
CDS: c.454+1G>A
AnimoAcid: 		Substitutions Dideoxy fingerprinting, Direct sequencing, SSCP Puck JM et al., 1997
148 Substitutions Genomic: g.1336G>A
CDS: c.455-1G>A
AnimoAcid: 		Substitutions Dideoxy fingerprinting, Direct sequencing, SSCP Puck JM et al., 1997
149 Substitutions Genomic: g.1335A>G
CDS: c.455-2A>G
AnimoAcid: 		Substitutions Dideoxy fingerprinting, Direct sequencing, SSCP Puck JM et al., 1997
150 Substitutions Genomic: g.1481G>A
CDS: c.594+5G>A
AnimoAcid: 		Substitutions Dideoxy fingerprinting, Direct sequencing, SSCP Puck JM et al., 1997
151 Substitutions Genomic: g.3034G>T
CDS: c.854+1G>T
AnimoAcid: 		Substitutions Dideoxy fingerprinting, Direct sequencing, SSCP Puck JM et al., 1997
152 Deletion Genomic: g.3035_3036delTG
CDS: c.854+2_854+3delTG
AnimoAcid: 		Deletion Dideoxy fingerprinting, Direct sequencing, SSCP Puck JM et al., 1997
153 Substitutions Genomic: g.3038G>C
CDS: c.854+5G>C
AnimoAcid: 		Substitutions Dideoxy fingerprinting, Direct sequencing, SSCP Puck JM et al., 1997
154 Substitutions Genomic: g.3356G>T
CDS: c.924+1G>T
AnimoAcid: 		Substitutions Dideoxy fingerprinting, Direct sequencing, SSCP Puck JM et al., 1997
155 Substitutions Genomic: g.3356G>A
CDS: c.924+1G>A
AnimoAcid: 		Substitutions Dideoxy fingerprinting, Direct sequencing, SSCP Puck JM et al., 1997
156 Substitutions Genomic: g.3360G>C
CDS: c.924+5G>C
AnimoAcid: 		Substitutions Dideoxy fingerprinting, Direct sequencing, SSCP Puck JM et al., 1997
157 Substitutions Genomic: g.929A>G
CDS: c.270-15A>G
AnimoAcid: 		Substitutions Direct sequencing Tassara C et al., 1995
158 Substitutions Genomic: g.2311C>T
CDS: c.664C>T
AnimoAcid: p.Arg222Cys		 Substitutions Direct sequencing, PCR based assay Sharfe N et al., 1997
159 Substitutions Genomic: g.1430T>C
CDS: c.548T>C
AnimoAcid: p.Leu183Ser		 Substitutions Direct sequencing Ursini MV et al., 2002
160 Substitutions Genomic: g.1131A>C
CDS: c.454+3A>C
AnimoAcid: 		Substitutions Direct sequencing, PCR based assay Ginn SL et al., 2004
161 Substitutions Genomic: g.1473G>A
CDS: c.591G>A
AnimoAcid: p.Trp197X		 Substitutions Direct sequencing Neubert J et al., 2005
162 Substitutions Genomic: g.675T>G
CDS: c.209T>G
AnimoAcid: p.Met70Arg		 Substitutions Dideoxy fingerprinting Lebet T et al., 2008
163 Substitutions Genomic: g.732A>G
CDS: c.266A>G
AnimoAcid: p.Tyr89Cys		 Substitutions Dideoxy fingerprinting Lebet T et al., 2008
164 Substitutions Genomic: g.1433A>G
CDS: c.551A>G
AnimoAcid: p.Glu184Gly		 Substitutions Dideoxy fingerprinting Lebet T et al., 2008
165 Substitutions Genomic: g.1442T>G
CDS: c.560T>G
AnimoAcid: p.Val187Gly		 Substitutions Dideoxy fingerprinting Lebet T et al., 2008
166 Substitutions Genomic: g.2311C>T
CDS: c.664C>T
AnimoAcid: p.Arg222Cys		 Substitutions Dideoxy fingerprinting Lebet T et al., 2008
167 Substitutions Genomic: g.2317C>T
CDS: c.670C>T
AnimoAcid: p.Arg224Trp		 Substitutions Dideoxy fingerprinting Lebet T et al., 2008
168 Substitutions Genomic: g.2323C>T
CDS: c.676C>T
AnimoAcid: p.Arg226Cys		 Substitutions Dideoxy fingerprinting Lebet T et al., 2008
169 Substitutions Genomic: g.3037A>G
CDS: c.854+4A>G
AnimoAcid: 		Substitutions Dideoxy fingerprinting Lebet T et al., 2008
170 Substitutions Genomic: g.1349C>T
CDS: c.467C>T
AnimoAcid: p.Ala156Val		 Substitutions Direct sequencing Kumaki S et al., 1999
171 Substitutions Genomic: g.673C>A
CDS: c.207C>A
AnimoAcid: p.Tyr69X		 Substitutions Direct sequencing Kashiwagi Y et al., 2009
172 Substitutions Genomic: g.3296C>T
CDS: c.865C>T
AnimoAcid: p.Arg289X		 Substitutions Direct sequencing Morelon E et al., 1996
173 Substitutions Genomic: g.3033G>A
CDS: c.854G>A
AnimoAcid: p.Arg285Gln		 Substitutions SSCP Jones AM et al., 1997
174 Substitutions Genomic: g.3033G>A
CDS: c.854G>A
AnimoAcid: p.Arg285GlnfsX9		 Substitutions Direct sequencing Kanai N et al., 1999
175 Substitutions Genomic: g.3710G>A
CDS: c.925-1G>A
AnimoAcid: p.Ala309ProfsX57		 Substitutions Direct sequencing Kumaki S et al., 1999
176 Substitutions Genomic: g.2317C>T
CDS: c.670C>T
AnimoAcid: p.Arg224Trp		 Substitutions Direct sequencing Grunebaum E et al., 2000
177 Substitutions Genomic: g.2311C>T
CDS: c.664C>T
AnimoAcid: p.Arg222Cys		 Substitutions Direct sequencing, SSCP Mella P et al., 2000
178 Substitutions Genomic: g.[212G>A;236G>A]
CDS: c.[115+5G>A; 115+29G>A]
AnimoAcid: p.Asp39SerfsX10		 Substitutions Direct sequencing, PCR based assay Wada T et al., 2008
179 Substitutions Genomic: g.2311C>T
CDS: c.664C>T
AnimoAcid: p.Arg222Cys		 Substitutions SSCP Ting SS et al., 1999
180 Insertion Genomic: g.2371_2372insA
CDS: c.724_725insA
AnimoAcid: p.His242Glnfs		 Insertion SSCP Ting SS et al., 1999
181 Deletion Genomic: g.2369delG
CDS: c.722delG
AnimoAcid: p.Ser241Thrfs		 Deletion SSCP Ting SS et al., 1999
182 Deletion Genomic: g.2995_2998delGATT
CDS: c.816_819delGATT
AnimoAcid: p.Ile273SerfsX19		 Deletion SSCP Ting SS et al., 1999
183 Substitutions Genomic: g.2323C>T
CDS: c.676C>T
AnimoAcid: p.Arg226Cys		 Substitutions SSCP Ting SS et al., 1999
184 Substitutions Genomic: g.3750C>T
CDS: c.964C>T
AnimoAcid: p.Gln322X		 Substitutions SSCP Ting SS et al., 1999
185 Substitutions Genomic: g.2317C>T
CDS: c.670C>T
AnimoAcid: p.Arg224Trp		 Substitutions SSCP Ting SS et al., 1999
186 Substitutions Genomic: g.988A>G
CDS: c.314A>G
AnimoAcid: p.Tyr105Cys		 Substitutions SSCP Ting SS et al., 1999
187 Substitutions Genomic: g.3033G>A
CDS: c.854G>A
AnimoAcid: p.Arg285Gln		 Substitutions SSCP Ting SS et al., 1999
188 Substitutions Genomic: g.3033G>T
CDS: c.854G>T
AnimoAcid: p.Arg285Leu		 Substitutions SSCP Ting SS et al., 1999
189 Substitutions Genomic: g.93A>G
CDS: c.1A>G
AnimoAcid: 		Substitutions SSCP Ting SS et al., 1999
190 Substitutions Genomic: g.2324G>A
CDS: c.677G>A
AnimoAcid: p.Arg226His		 Substitutions Direct sequencing Shibata F et al., 2007
191 Deletion Genomic: g.2995_2998delGATT
CDS: c.816_819delGATT
AnimoAcid: p.Ile273Serfs		 Deletion PCR based assay Jung EY et al., 1997
192 Substitutions Genomic: g.2350C>T
CDS: c.703C>T
AnimoAcid: p.Gln235X		 Substitutions PCR based assay Minegishi Y et al., 1995
193 Substitutions Genomic: g.3340C>A
CDS: c.909C>A
AnimoAcid: p.Tyr303X		 Substitutions PCR based assay Minegishi Y et al., 1995
194 Deletion Genomic: g.1448_1462del15
CDS: c.566_580del15
AnimoAcid: 		Deletion PCR based assay Minegishi Y et al., 1995
195 Substitutions Genomic: g.2323C>T
CDS: c.676C>T
AnimoAcid: p.Arg226Cys		 Substitutions Direct sequencing Jo EK et al., 2004
196 Deletion Genomic: g.1019_1022delTCAG
CDS: c.345_348delTCAG
AnimoAcid: p.Leu117CysfsX30		 Deletion Direct sequencing Gilmour KC et al., 2001
197 Substitutions Genomic: g.1477G>A
CDS: c.594+1G>A
AnimoAcid: 		Substitutions Direct sequencing Gilmour KC et al., 2001
198 Deletion-Insertion Genomic: g.664_665delins39
CDS: c.198_199delins39
AnimoAcid: p.Asn66fs		 Deletion-Insertion Direct sequencing Gilmour KC et al., 2001
199 Substitutions Genomic: g.1340T>A
CDS: c.458T>A
AnimoAcid: p.Ile153Asn		 Substitutions Direct sequencing Gilmour KC et al., 2001
200 Deletion Genomic: g.3288delC
CDS: c.857delC
AnimoAcid: p.Thr286ArgfsX8		 Deletion Direct sequencing Gilmour KC et al., 2001
201 Deletion Genomic: g.2323_2329delCGCTTTA
CDS: c.676_682delCGCTTTA
AnimoAcid: p.Arg226ProfsX12		 Deletion Direct sequencing Gilmour KC et al., 2001
202 Insertion Genomic: g.1436_1437insA
CDS: c.554_555insA
AnimoAcid: p.His185GlnfsX8		 Insertion Direct sequencing Gilmour KC et al., 2001
203 Substitutions Genomic: g.996T>A
CDS: c.322T>A
AnimoAcid: p.Ser108Thr		 Substitutions Direct sequencing Gilmour KC et al., 2001
204 Substitutions Genomic: g.1068C>T
CDS: c.394C>T
AnimoAcid: p.Leu132Phe		 Substitutions Direct sequencing Gilmour KC et al., 2001
205 Substitutions Genomic: g.656G>A
CDS: c.190G>A
AnimoAcid: p.Val64Met		 Substitutions Direct sequencing Gilmour KC et al., 2001
206 Substitutions Genomic: g.95G>T
CDS: c.3G>T
AnimoAcid: p.Met1Ile		 Substitutions Direct sequencing Gilmour KC et al., 2001
207 Substitutions Genomic: g.2356T>C
CDS: c.709T>C
AnimoAcid: p.Trp237Arg		 Substitutions Direct sequencing Gilmour KC et al., 2001
208 Substitutions Genomic: g.1351C>T
CDS: c.469C>T
AnimoAcid: p.Pro157Ser		 Substitutions Direct sequencing Gilmour KC et al., 2001
209 Substitutions Genomic: g.207G>A
CDS: c.115G>A
AnimoAcid: p.[Asp39Asn; Asp39SerfsX9]		 Substitutions PCR based assay DiSanto JP et al., 1994
210 Deletion Genomic: g.2312delG
CDS: c.665delG
AnimoAcid: p.Arg222LeufsX151		 Deletion PCR based assay, SSCP Matthews DJ et al., 1995
211 Deletion Genomic: g.(2242+?)_3896del
CDS: c.(595+?)_1110del
AnimoAcid: 		Deletion PCR based assay, Southern blotting Matthews DJ et al., 1995
212 Substitutions Genomic: g.3309T>A
CDS: c.878T>A
AnimoAcid: p.Leu293Gln		 Substitutions PCR based assay, SSCP Schmalstieg FC et al., 1995
213 Substitutions Genomic: g.1349C>T
CDS: c.467C>T
AnimoAcid: p.Ala156Val		 Substitutions PCR based assay Ishii N et al., 1994
214 Deletion Genomic: g.3742_3743delAG
CDS: c.956_957delAG
AnimoAcid: p.Leu321AlafsX6		 Deletion PCR based assay Ishii N et al., 1994
215 Deletion Genomic: r.116_269del
CDS:
AnimoAcid: 		Deletion PCR based assay Ishii N et al., 1994
216 Deletion Genomic: g.2317_2332del16
CDS: c.670_685del16
AnimoAcid: p.Arg224HisfsX44		 Deletion SSCP Clark PA et al., 1995
217 Substitutions Genomic: g.2311C>T
CDS: c.664C>T
AnimoAcid: p.Arg222Cys		 Substitutions SSCP Clark PA et al., 1995
218 Substitutions Genomic: g.3033G>A
CDS: c.854G>A
AnimoAcid: p.Arg285Gln		 Substitutions SSCP Clark PA et al., 1995
219 Substitutions Genomic: g.3296C>T
CDS: c.865C>T
AnimoAcid: p.Arg289X		 Substitutions SSCP Clark PA et al., 1995
220 Deletion Genomic: g.2995_2998delGATT
CDS: c.816_819delGATT
AnimoAcid: p.Ile273SerfsX19		 Deletion Direct sequencing, PCR based assay DiSanto JP et al., 1994
221 Substitutions Genomic: g.2367G>C
CDS: c.720G>C
AnimoAcid: p.Trp240Cys		 Substitutions Direct sequencing, PCR based assay DiSanto JP et al., 1994
222 Substitutions Genomic: g.2369G>T
CDS: c.722G>T
AnimoAcid: p.Ser241Ile		 Substitutions Direct sequencing, PCR based assay DiSanto JP et al., 1994
223 Substitutions Genomic: g.1018G>A
CDS: c.344G>A
AnimoAcid: p.Cys115Tyr		 Substitutions Direct sequencing, PCR based assay DiSanto JP et al., 1994
224 Substitutions Genomic: g.2323C>T
CDS: c.676C>T
AnimoAcid: p.Arg226Cys		 Substitutions Direct sequencing, PCR based assay DiSanto JP et al., 1994
225 Substitutions Genomic: g.1126T>C
CDS: c.452T>C
AnimoAcid: p.Leu151Pro		 Substitutions Direct sequencing, PCR based assay Speckmann C et al., 2008
226 Substitutions Genomic: g.1075A>T
CDS: c.401A>T
AnimoAcid: p.Asp134Val		 Substitutions Direct sequencing Kuijpers TW et al., 2011
227 Substitutions Genomic: g.929A>G
CDS: c.270-15A>G
AnimoAcid: 		Substitutions Direct sequencing Kawai T et al., 2012
228 Insertion Genomic: g.3032_3033insG
CDS: c.853_854insG
AnimoAcid: p.Thr286AspfsX17		 Insertion Direct sequencing Lee YW et al., 2013