Overview
 
  Diseases : - Or - Protein change types : - Or - Variation types :  
 
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Variant ID Variation type Exon/intron Nucleotide nomencl. Base change type Protein nomencl. Protein change type Number of probands dbSNP ID OMIM ID Swiss-Prot ID
227 mutation Exon 7 c.451C>T base substitution p.Arg151X in-frame deletion 0    
34 mutation Exon 2 - CDS c.2T>A base substitution p.Met1? unknown 1    
91 mutation Exon 2 - CDS c.1A>G base substitution p.Met1? unknown 1    
5 mutation Exon 2 - CDS c.21G>T base substitution p.Trp7Cys missense (aminoacid sub) 2
53 mutation Intron 2 c.103-13_103-18del base(s) deletion p.? unknown 2    
93 mutation Exon 3 c.164_167del base(s) deletion p.Thr55SerfsX3 truncating deletion 1    
22 mutation Intron 3 c.180+1G>T base substitution p.? unknown 1    
82 mutation Intron 3 c.180+2T>A base substitution p.? unknown 1   
21 mutation Exon 5 c.265dup duplication p.Thr89AsnfsX2 truncating deletion 1   
78 mutation Exon 5 c.287del base(s) deletion p.Asn96MetfsX29 truncating deletion 1    
115 polymorphism Intron 5 c.297+36A>G base substitution p.? unknown 1   
146 mutation Exon 6 c.322C>T base substitution p.Arg108X nonsense (stop codon) 1    
83 mutation Exon 6 c.381_382delinsT complex p.Lys127AsnfsX36 truncating deletion 1    
51 mutation Exon 6 c.384_387del base(s) deletion p.Asp128GlufsX34 truncating deletion 3   
160 mutation Exon 6 c.384_385del base(s) deletion p.Asp128GlufsX17 truncating deletion 1    
162 mutation Exon 6 c.437del base(s) deletion p.Glu146GlyfsX17 truncating deletion 1    
98 mutation Exon 9 c.566C>G base substitution p.Ser189X nonsense (stop codon) 1    
80 mutation Exon 9 c.613C>T base substitution p.Arg205X nonsense (stop codon) 1   
20 mutation Exon 10 c.679_680del base(s) deletion p.Glu227SerfsX2 truncating deletion 1   
117 polymorphism Exon 10 c.829G>C base substitution p.Glu277Gln missense (aminoacid sub) 1   
118 unclassified variant Exon 11 c.930A>G base substitution p.= no effect 1    
90 mutation Intron 12 c.1066-1G>A base substitution p.? unknown 2    
176 mutation Intron 13 c.1189+1G>A base substitution p.? unknown 1    
32 mutation Exon 14 c.1219_1220del base(s) deletion p.Met407GlufsX14 truncating deletion 4    
79 mutation Exon 14 c.1260_1264del base(s) deletion p.Lys421GlyfsX2 truncating deletion 2   
75 mutation Exon 15 c.1361del base(s) deletion p.Gly454GlufsX5 truncating deletion 1    
92 mutation Exon 15 c.1419_1423del base(s) deletion p.Ile474ArgfsX5 truncating deletion 1    
23 mutation Exon 16 c.1550del base(s) deletion p.Leu517X nonsense (stop codon) 1   
33 mutation Exon 16 c.1593C>A base substitution p.Tyr531X nonsense (stop codon) 1    
73 mutation Exon 17 c.1645C>T base substitution p.Arg549X nonsense (stop codon) 1    
54 mutation Exon 17 c.1666del base(s) deletion p.Ile556PhefsX17 truncating deletion 1    
57 mutation Exon 17 c.1682_1683del base(s) deletion p.Gln561ArgfsX14 truncating deletion 1    
39 mutation Exon 17 c.1709C>G base substitution p.Ser570X nonsense (stop codon) 1    
42 mutation Intron 17 c.1711+5A>G base substitution p.? unknown 1    
189 mutation Exon 18 c.1824G>A base substitution p.= no effect 1    
28 mutation Exon 19 c.1859_1862del base(s) deletion p.Arg621IlefsX2 truncating deletion 2    
84 mutation Exon 19 c.1860_1861del base(s) deletion p.Asp622PhefsX5 truncating deletion 1    
206 mutation Intron 19 c.1910-2A>C base substitution p.? unknown 1    
43 mutation Exon 20 c.1936C>T base substitution p.Gln646X nonsense (stop codon) 1    
62 mutation Exon 20 c.1985A>T base substitution p.Gln662Leu missense (aminoacid sub) 1    
89 mutation Exon 20 c.1984C>T base substitution p.Gln662X nonsense (stop codon) 1    
96 unclassified variant Exon 20 c.1991A>G base substitution p.Asp664Gly missense (aminoacid sub) 2    
31 mutation Exon 20 c.1992del base(s) deletion p.Pro665LeufsX10 truncating deletion 1    
120 polymorphism Intron 20 c.2052+30del base(s) deletion p.? unknown 1   
121 polymorphism Exon 21 c.2055T>C base substitution p.= no effect 1    
17 mutation Exon 21 c.2118_2122dup duplication p.Thr709SerfsX9 truncating deletion 1   
122 polymorphism Intron 21 c.2217+45T>C base substitution p.? unknown 1   
7 mutation Intron 21 c.2218-4_2222del base(s) deletion p.? unknown 1   
101 mutation Exon 22 c.2218-15_2220del base(s) deletion p.? unknown 1    
178 mutation Intron 21 c.2218-2A>C base substitution p.? unknown 1    
16 mutation Exon 22 c.2249T>G base substitution p.Leu750X nonsense (stop codon) 2   
71 mutation Exon 22 c.2251C>T base substitution p.Arg751X nonsense (stop codon) 1    
123 polymorphism Exon 22 c.2268G>A base substitution p.= no effect 1   
124 unclassified variant Exon 22 c.2343T>C base substitution p.= no effect 1    
125 polymorphism Exon 24 c.2512A>G base substitution p.Lys838Glu missense (aminoacid sub) 1   
148 mutation Exon 25 c.2695C>T base substitution p.Gln899X nonsense (stop codon) 1    
126 unclassified variant Exon 25 c.2717T>G base substitution p.Leu906Trp missense (aminoacid sub) 1   
85 mutation Exon 26 c.2906dup duplication p.Tyr969X nonsense (stop codon) 1    
15 mutation Intron 26 c.2991+1655A>G base substitution p.Cys998X; wild-type nonsense (stop codon) 83   
87 mutation Exon 27 c.3043G>T base substitution p.Glu1015X nonsense (stop codon) 1    
88 mutation Intron 27 c.3104-1G>A base substitution p.? unknown 1    
94 mutation Intron 27 c.3104-2A>G base substitution p.? unknown 1    
4 mutation Exon 28 c.3176del base(s) deletion p.Ile1059LysfsX6 truncating deletion 1    
11 mutation Exon 28 c.3175dup duplication p.Ile1059AsnfsX11 truncating deletion 3   
81 mutation Exon 28 c.3175del base(s) deletion p.Ile1059X nonsense (stop codon) 1    
48 mutation Exon 28 c.3292G>T base substitution p.Glu1098X nonsense (stop codon) 2    
76 mutation Intron 28 c.3310-1G>C base substitution p.? unknown 1    
180 mutation Intron 28 c.3310-1_3310delinsAA complex p.? unknown 3    
166 mutation Exon 29 c.3422dup duplication p.Leu1141PhefsX5 truncating deletion 1    
86 mutation Exon 31 c.3793C>T base substitution p.Gln1265X nonsense (stop codon) 2    
60 mutation Exon 31 c.3811C>T base substitution p.Arg1271X nonsense (stop codon) 3    
19 mutation Exon 31 c.3814C>T base substitution p.Arg1272X nonsense (stop codon) 2   
47 mutation Exon 31 c.3922C>T base substitution p.Gln1308X nonsense (stop codon) 1    
168 mutation Exon 31 c.4001del base(s) deletion p.Thr1334IlefsX2 truncating deletion 1    
50 mutation Exon 31 c.4028del base(s) deletion p.Lys1343ArgfsX2 truncating deletion 1    
24 mutation Exon 32 c.4115_4116del base(s) deletion p.Ile1372LysfsX5 truncating deletion 2   
140 mutation Exon 32 c.4114_4115del base(s) deletion p.Ile1372LysfsX5 truncating deletion 1    
74 mutation Intron 32 c.4195-1G>A base substitution p.? unknown 1    
59 mutation Exon 34 c.4393C>T base substitution p.Arg1465X nonsense (stop codon) 6    
6 mutation Exon 35 c.4656del base(s) deletion p.Glu1553LysfsX4 truncating deletion 1  
41 mutation Exon 35 c.4661_4663del base(s) deletion p.Glu1554del in-frame deletion 1    
188 unclassified variant Exon 35 c.4696G>C base substitution p.Ala1566Pro missense (aminoacid sub) 1    
127 polymorphism Intron 35 c.4704+46del base(s) deletion p.? unknown 1   
35 mutation Exon 36 c.4723A>T base substitution p.Lys1575X nonsense (stop codon) 16   
1 mutation Exon 36 c.4732G>T base substitution p.Glu1578X nonsense (stop codon) 1   
8 mutation Exon 36 c.4771C>T base substitution p.Gln1591X nonsense (stop codon) 1   
64 mutation Exon 36 c.4791_4794del base(s) deletion p.Lys1598SerfsX8 truncating deletion 1    
128 unclassified variant Exon 36 c.4806G>A base substitution p.= no effect 1    
46 mutation Exon 37 c.4882C>T base substitution p.Gln1628X nonsense (stop codon) 5    
25 mutation Exon 37 c.4966G>T base substitution p.Glu1656X nonsense (stop codon) 1   
49 mutation Exon 37 c.4962_4963del base(s) deletion p.Glu1656AsnfsX3 truncating deletion 2    
52 mutation Exon 37 c.4965_4966del base(s) deletion p.Glu1656AsnfsX3 truncating deletion 1    
99 mutation Exon 38 c.5046del base(s) deletion p.Val1683X nonsense (stop codon) 1    
190 unclassified variant Exon 38 c.5081T>C base substitution p.Leu1694Pro missense (aminoacid sub) 1    
30 mutation Exon 38 c.5163del base(s) deletion p.Thr1722GlnfsX2 truncating deletion 5    
29 mutation Intron 38 c.5226+1G>A base substitution p.? unknown 1    
45 mutation Exon 39 c.5256_5257del base(s) deletion p.Ala1753ArgfsX7 truncating deletion 1    
158 mutation Exon 39 c.5344C>T base substitution p.Arg1782X nonsense (stop codon) 1    
65 mutation Exon 40 c.5434_5435del base(s) deletion p.Glu1812LysfsX5 truncating deletion 1    
69 mutation Exon 40 c.5493del base(s) deletion p.Ala1832ProfsX19 truncating deletion 4   
12 mutation Exon 40 c.5515_5518del base(s) deletion p.Glu1839LysfsX11 truncating deletion 1   
172 mutation Exon 40 c.5519_5537del base(s) deletion p.Lys1840ArgfsX5 truncating deletion 1    
27 mutation Intron 40 c.5587-1G>C base substitution p.? unknown 5    
56 mutation Exon 41 c.5611_5614del base(s) deletion p.Gln1871ValfsX2 truncating deletion 1    
13 mutation Exon 41 c.5649dup duplication p.Leu1884ThrfsX23 truncating deletion 4   
2 mutation Exon 41 c.5668G>T base substitution p.Gly1890X nonsense (stop codon) 11   
36 mutation Exon 41 base substitution p.Glu1903X nonsense (stop codon) 1   
129 polymorphism Intron 41 c.5709+25A>C base substitution p.? unknown 1   
130 polymorphism Intron 41 c.5709+45G>C base substitution p.? unknown 1   
66 mutation Exon 42 c.5722G>T base substitution p.Glu1908X nonsense (stop codon) 1    
61 mutation Exon 42 c.5734del base(s) deletion p.Trp1912GlyfsX11 truncating deletion 2    
100 mutation Exon 42 c.5776C>T base substitution p.Arg1926X nonsense (stop codon) 1    
26 mutation Exon 42 c.5813_5817del base(s) deletion p.Thr1938AsnfsX16 truncating deletion 1   
3 mutation Exon 42 c.5824C>T base substitution p.Gln1942X nonsense (stop codon) 1    
40 mutation Exon 42 c.5850del base(s) deletion p.Phe1950LeufsX15 truncating deletion 5    
18 mutation Exon 43 c.5866G>T base substitution p.Glu1956X nonsense (stop codon) 1    
174 mutation Exon 43 c.5865_5867delinsGG complex p.Glu1956GlyfsX9 truncating deletion 1    
95 mutation Exon 43 c.5932C>T base substitution p.Arg1978X nonsense (stop codon) 1    
58 mutation Exon 43 c.5941G>T base substitution p.Glu1981X nonsense (stop codon) 2    
55 mutation Exon 44 c.6031C>T base substitution p.Arg2011X nonsense (stop codon) 1    
67 mutation Exon 44 c.6072C>A base substitution p.Tyr2024X nonsense (stop codon) 1    
77 mutation Intron 45 c.6271-8T>G base substitution p.? unknown 1    
63 mutation Exon 46 c.6277del base(s) deletion p.Val2093SerfsX4 truncating deletion 1    
14 mutation Exon 46 c.6331C>T base substitution p.Gln2111X nonsense (stop codon) 1   
131 polymorphism Intron 47 c.6522+12dup duplication p.? unknown 1   
44 mutation Exon 48 c.6604del base(s) deletion p.Ile2202LeufsX24 truncating deletion 2    
132 unclassified variant Exon 49 c.6684T>G base substitution p.Asn2228Lys missense (aminoacid sub) 1    
72 mutation Exon 50 c.6869del base(s) deletion p.Asn2290IlefsX11 truncating deletion 2    
70 mutation Exon 50 c.6870del base(s) deletion p.Gln2291LysfsX10 truncating deletion 1    
133 polymorphism Intron 51 c.7035-38C>G base substitution p.? unknown 1   
134 polymorphism Intron 53 c.7210-22T>C base substitution p.? unknown 1   
97 unclassified variant Exon 54 - CDS c.7311_7313del base(s) deletion p.Lys2437del in-frame deletion 1    
68 mutation Exon 54 - CDS c.7318_7321dup duplication p.Leu2441SerfsX16 truncating deletion 1    
10 mutation Exon 54 - CDS c.7341dup duplication p.Leu2448ThrfsX8 truncating deletion 2    
200 mutation Exon 54 - CDS c.7366_7369del base(s) deletion p.Thr2457AlafsX27 truncating deletion 1