1 | Ex 1 | M | c.1A→G | p.M1V | 27 |
2 | Ex 1 | M | c.2T→C | p.M1T | 28, 29 |
3 | Ex 1 | M | c.2T→G | p.M1R | 30 |
4 | Ex 1 | M | c.23T→C | p.L8P | 30 |
5 | Ex1 | D | c.63delC | p.T22fs | 31, 32 |
6 | Int 1 | Sp | c.67+1G→A | Ex 1 skip, p.M1fs | 27, 33 |
7 | Int 1 | Sp | c.68G→A (c.68–1G→A)* | Ex 2 del, p.S23fs | 34* |
8 | Int 1 | D | c.68_219del | Ex 2 skip, p.S23fs | 34, 35 |
9 | Ex 2 | N | c.90T→A | p.C30X | 36 |
10 | Ex 2 | M | c.95T→G | p.L32R | 37 |
11 | Ex 2 | D | c.115delA | p.R39fs | 35 |
12 | Ex 2 | N | c.121G→T | p.E41X | 35 |
13 | Ex 2 | N | c.142C→T | p.Q48X | 27 |
14 | Ex 2 | M | c.145G→T | p.V49F | 30 |
15 | Ex 2 | M | c.155G→T | p.G52V | 29, 38 |
16 | Ex 2 | M | c.155G→A | p.G52D | 37 |
17 | Ex 2 | M | c.157T→C | p.C53R | 16, 28, 29, 38 |
18 | Ex 2 | N | c.159C→A (c.157C→A)* | p.C53X | 27* |
19 | Ex 2 | I | c.195_196insT | p.H65fs | 30 |
20 | Int 2 | Sp | c.219+5G→A | Ex 2 skip, p.S23fs | 35 |
21 | Ex 3 | N | c.229C→T | p.Q77X | 32 |
22 | Ex 3 | N | c.247C→T | p.Q83X | 27 |
23 | Ex 3 | I | c.258–276insCAAAATGGCACCTGGCCC | p.K85_Q86insQNGTWP | 39 |
24 | Ex 3 | N | c.277C→T | p.R93X (p.R83X)* | 27, 28, 39* |
25 | Ex 3 | M | c.320T→G | p.L107R | 30 |
26 | Ex 3 | D | c.332_338delCCCTGGG | p.A111fs | 27 |
27 | Ex 3 | N | c.360C→A | p.Y120X | 39 |
28 | Int 3 | Sp | c.360+1G→A | Ex 3 skip, p.G74_Y120del | 16, 27, 28, 35, 40 |
29 | Int 3 | Sp | c.360+1G→C | Ex 3 skip, p.G74_Y120del | 2 |
30 | Int 3 | Sp | c.360+4A→G | Ex 3 skip, p.G74_Y120del | 34 |
31 | Int 3 | Sp | c.360+5G→A | splice defect | 27 |
32 | Int 3 | Sp | c.361–2A→G | splice defect | 34, 39 |
33 | Ex 4 | M | c.374T→A | p.V125D | 37 |
34 | Ex 4 | M | c.447G→C | p.W149C | 29, 41 |
35 | Ex 4 | D | c.461delG | p.G154fs | 30 |
36 | Ex 4 | M | c.479C→A | p.A160D | 37, 42 |
37 | Ex 4 | M | c.494C→T | p.P165L | 35 |
38 | Ex 4 | D | c.496delC | p.Q166fs | 30 |
39 | Ex 4 | I | c.497_498insC | p.Q166fs | 27 |
40 | Ex 4 | N | c.511C→T | p.R171X | 30, 32, 34, 36, 43 |
41 | Ex 4 | Sp | c.523G→C, c.361_523del | Ex 4 skip, p.N121fs | 35 |
42 | Int 4 | Sp | c.524–2A→G | Ex 4 skip, pN121fs | 29 |
43 | Int 4 | D | c.524_689del | Ex 5 del, p.A175fs | 35 |
44 | Ex 5 | I | c.562_563insC | p.Q188fs | 35 |
45 | Ex 5 | D | c.576_596del21bp | p.R192_P198del | 34 |
46 | Ex 5 | I | c.577_578insGC | p.T193fs | 27 |
47 | Ex 5 | M | c.581T→C | p.L194P | 35 |
48 | Ex 5 | I | c.580_581insACGC | p.L194fs | 28 |
49 | Ex 5 | D | c.586_604delTGGCGGCCGCGTACTCCAG | p.W196fs | 31 |
50 | Ex 5 | M | c.586T→C | p.W196R | 16 |
51 | Ex 5 | N | c.587G→A | p.W196X | 28, 44 |
52 | Ex 5 | N | c.588G→A | p.W196X | 35 |
53 | Ex 5 | D | c.591_619del29bp | p.P198fs | 32 |
54 | Ex 5 | I | c.596_597insCG | p.R199fs | 16 |
55 | Ex 5 | D | c.619_621delTGC | p.C207del | 30 |
56 | Ex 5 | D | c.640_643delGGCC | p.G214fs | 16 |
57 | Ex 5 | D | c.657_658delCA | p.I220fs | 45 |
58 | Ex 5 | M | c.662T→C | p.L221P | 38 |
59 | Ex 5 | D | c.682_686delTCGGC | p.S228fs | 46 |
60 | Int 5 | Sp | c.689+2T→C | Ex 6 skip, p.G230fs | 27, 30 |
61 | Int 5 | Sp | c.689–2A→T | Ex 6 skip, p.G230fs | 28 |
62 | Ex 6 | D | c.694_699delCGGACG | p.R232_T233del | 30 |
63 | Ex 6 | I | c.701_702insACGG | p.V234fs | 27 |
64 | Ex 6 | N | c.715G→T | p.E239X | 31 |
65 | Ex 6 | D | c.733delG | p.G245fs | 27 |
66 | Ex 6 | D | c.736delG | p.D246fs | 35 |
67 | Ex 6 | I | c.766_767insC | p.P256fs | 27 |
68 | Ex 6 | I | c.772_773insC | p.Y258fs | 30 |
69 | Ex 6 | M | c.781T→C | p.W261R | 27 |
70 | Ex 6 | N | c.782G→A | p.W261X | 31, 37 |
71 | Ex 6 | D | c.785_789delTCATC | p.L262fs | 30 |
72 | Ex 6 | D | c.787_789delATC | p.I263del | 27, 30 |
73 | Ex 6 | M | c.788T→C | p.I263T | 30 |
74 | Ex 6 | M | c.790G→A | p.D264N | 27 |
75 | Int 6 | Indel | c.817_1134del;insTAAAC (g.IVS6+140_IVS8+20delTAACCins)* | p.T273_A378del | 35* |
76 | Ex 7 | InDel | c.820_826delACTGGAGinsTTGAAGGTCTTTCCAGAGAAAAAC | p.T274fs | 28 |
77 | Ex 7 | I | c.828_829insA | p.Y277fs | 2 |
78 | Ex 7 | N | c.831C→G | p.Y277X | 24 |
79 | Ex 7 | D | c.882_920del39bp | p.T295_N307del | 24 |
80 | Ex 7 | InDel | c.887_918del32bp;c.919_920 insCAAGCTCCCAG | p.Q297fs | 27 |
81 | Ex 7 | D | c.893delG | p.G298fs | 30 |
82 | Ex 7 | I | c.904_905insGG | p.E302fs | 35 |
83 | Ex 7 | D | c.909_929del21bp | p.R304_I310del | 32 |
84 | Ex 7 | M | c.917T→C | p.L306P | 27, 29 |
85 | Ex 7 | M | c.932T→G | p.V311G | 47 |
86 | Ex 7 | I | c.967_968insT | p.V323fs | 34, 46 |
87 | Ex 7 | M | c.991G→A | p.G331S | 27 |
88 | Int 7 | D | c.993–25_1120del152 | p.G332fs | 30 |
89 | Ex 8 | D | c.993_1134del | Ex 8del, p.G332fs | 34 |
90 | Ex 8 | D | c.995delG | p.G332fs | 27 |
91 | Ex 8 | I | c.1048_1049dupTT | p.T349fs | 30 |
92 | Ex 8 | N | c.1050T→A | p.C350X | 24, 44 |
93 | Ex 8 | N | c.1078C→T | p.Q360X | 27 |
94 | Ex 8 | D | c.1078_1081delCAGA | p.G360fs | 29 |
95 | Ex 8 | M | c.1088G→A | p.C363Y | 37 |
96 | Ex 8 | D | c.1089_1090delTG | p.C363fs | 28 |
97 | Ex 8 | I | c.1111_1112insG | p.V371fs | 28, 40, 44 |
98 | Ex 8 | D | c.1111_1133del | p.V371fs | 16, 30 |
99 | Ex 8 | I | c.1117_1118insT | p.K373fs | 27 |
100 | Ex 8 | D | c.1120_1123delAAAG | p.K374fs | 2 |
101 | Ex 8 | M | c.1121_1122AA→GC | p.K374S | 27 |
102 | Ex 8 | I | c.1122_1123insA | p.E375fs | 35 |
103 | Ex 8 | N | c.1123G→T | p.E375X | 31 |
104 | Int 8 | Sp | c.1134G→A | splice defect, p.A378A | 27 |
105 | Int 8 | Sp | c.1134+1G→A | Ex 8 skip, p.G332fs | 34, 39 |
106 | Int 8 | Sp | c.1134+1G→C | Ex 8 skip, p.G332fs | 31 |
107 | Int 8 | I | c.1134_1135ins220_1134 | p.Ala378_His379insGly74_Ala378 | 34, 41 |
108 | Int 8 | D | c.1135_1977del | Ex 8–14del p.H379_A658del | 34, 35 |
109 | Ex 9a | I | c.1142_1143insT | p.K381fs | 27 |
110 | Ex 9a | M | c.1146C→G | p.C382W | 16 |
111 | Ex 9a | D | c.1165–1167delTTC | p.F389del | 39 |
112 | Ex 9a | D | c.1186delG | p.A396fs | 28 |
113 | Ex 9a | D | c.1195delA | p.R399fs | 16 |
114 | Ex 9a | D | c.1199delG | p.G400fs | 30, 35 |
115 | Ex 9a | D | c.1206delG | p.K402fs | 29 |
116 | Ex 9a | I | c.1213_1214ins11bp | p.L405fs | 30 |
117 | Ex 9a | M | c.1220G→A | p.S407N | 37 |
118 | Ex 9a | D | c.1231_1233delAGC | p.S411del | 37 |
119 | Ex 9a | M | c.1234T→A | p.C412S | 30 |
120 | Ex 9a | M | c.1238G→T | p.G413V | 27, 33 |
121 | Ex 9a | D | c.1255delA | p.S419fs | 27 |
122 | Ex 9a | D | c.1267delA | p.N423fs | 29, 31 |
123 | Ex 9b | Sp | c.1310delG | splice defect | 27 |
124 | Ex 9b | Sp | c.1311G→C | splice defect, p.R437R | 29 |
125 | Ex 9b | Sp | c.1311G→A | splice defect, p.R437R | 27 |
126 | Int 9b | Sp | c.1311+2T→A | Ex 9b skip, p.A425fs | 28 |
127 | Ex 10 | I | c.1317_1318insA | p.V440fs | 27 |
128 | Ex 10 | D | c.1334delT | p.M445fs | 46 |
129 | Ex 10 | D | c.1346_1347delCT | p.S449fs | 27, 30, 35 |
130 | Ex 10 | D | c.1347_1350delTTTC | p.F450fs | 28 |
131 | Ex 10 | I | c.1361_1362insT | p.Y455fs | 30 |
132 | Ex 10 | I | c.1392_1393insC | p.N465fs | 30 |
133 | Ex 10 | D | c.1410delG | p.G470fs | 30 |
134 | Ex 10 | N | c.1414C→T | p.Q472X | 40, 44 |
135 | Ex 10 | InDel | c.1415_1417delAGAinsGT | p.Q472fs | 28, 37 |
136 | Ex 10 | Sp | c.1428G→A | splice defect | 30 |
137 | Ex 11 | D | c.1432_1433delAG | p.R478fs | 29 |
138 | Ex 11 | D | c.1437_1438delGT | p.V479fs | 27 |
139 | Ex 11 | N | c.1469T→G | p.L490X | 30 |
140 | Ex 11 | I | c.1470_1471insA | p.D491fs | 30, 31, 37 |
141 | Ex 11 | M | c.1510G→A | p.V504M | 31, 39 |
142 | Ex 11 | M | c.1522C→T | p.Q508X | 30 |
143 | Ex 11 | D | c.1550_1551delTG | p.V517fs | 44 |
144 | Ex 11 | D | c.1553_1554delGC | p.S518fs | 24 |
145 | Ex 11 | D | c.1609delT | p.Y537fs | 30 |
146 | Ex 11 | N | c.1611C→A | p.Y537X | 27 |
147 | Ex 11 | I | c.1623_1624insA | p.P542fs | 30 |
148 | Ex 11 | D | c.1630delA | p.T544fs | 31 |
149 | Ex 11 | D | c.1655delC | p.A552fs | 29, 44 |
150 | Ex 11 | D | c.1672_1684delGGGTCTCAAGACC | p.G558fs | 37 |
151 | Ex 11 | N | c.1678C→T(c.1778C→T)* | p.Q560X | 27* |
152 | Ex 11 | N | c.1684C→T | p.Q562X | 27 |
153 | Ex 12 | D | c.1689_1699delAGTCCATAGGA | p.E563fs | 37 |
154 | Ex 12 | N | c.1715T→A | p.L572X | 37 |
155 | Ex 12 | Sp | c.1741_1742insTCTG | p.G581fs | 31 |
Non-disease associated variants
| | |
| Ex 1 | M | c.14C→T | p.T5M | 31, 32, 34 |
| Ex 4 | M | c.392C→T | p.P131L | 27, 31, 35, 39 |
| Ex 5 | M | c.572G→A | p.G191D | 30, 31 |
| Ex 5 | M | c.590G→A | p.R197Q | 31 |
| Ex 8 | M | c.1055C→T | p.P352L | 32 |
| Ex 8 | M | c.1096G→C | p.D366H | 31, 32, 48 |
| Ex 13 | M | c.1794T→G | p.I575T | 32 |