Table 3.
No. | Exon | Base Variation | Amino Acid Variation |
---|---|---|---|
1 | 8 | c.797G>A | p.G266E |
2 | 8 | c.907dupT | p.P301fs |
3 | 5 | c.527G>T | p.R273H |
4 | 7 | c.746A>T | p.R249W |
6 | 5 | c.657G>A | p.R175H |
7 | 8 | c.817C>T | p.R273C |
8 | 5 | c.564G>C | p.R175H |
9 | 6 | c.577C>T | p.H193Y |
10 | 5 | c.848G>T | p.G245S |
11 | 6 | c.524G>A | p.R175H |
14 | 5 | c.382C>A | p.P128T |
15 | 7 | c.607C>G | p.R282W |
16 | 8 | c.844C>T | p.R248Q |
17 | 6 | c.584T>C | p.I195T |
18 | 5 | c.700T>C | p.Y234H |
19 | 6 | c.637C>T | p.R213X |
20 | 7 | c.743C>T | p.R248Q |
21 | 6 | c.549A>T | p.R282W |
22 | 5 | c.455dupCGC | p.G154fs |
23 | 5 | c.379C>T | p.R248Q |
24 | 5 | c.765G>C | p.R175H |
25 | 6 | c.103dupC | p.R202fs |
26 | 8 | c.503G>T | p.R249S |
27 | 5 | c.476C>T | p.R273H |
28 | 6 | c.583dupA | p.I195fs |
29 | 6 | c.586C>T | p.R282W |
30 | 5 | c.148G>C | p.R175H |
31 | 5 | c.337C>T | p.R248Q |
32 | 7 | c.709A>G | p.Y234C |
33 | 5 | c.487A>T | p.R175H |
34 | 5 | c.517G>T | p.V173L |
36 | 8 | c.839dupG | p.R273H |
37 | 5 | c.360_406del34 | p.L130fs |
39 | 5 | c.226_229delG | p.V143fs |
40 | 5 | c.767C>G | p.R282W |
41 | 6 | c.592G>T | p.R249S |
42 | 5 | c.451C>T | p.P151S |
43 | 7 | c.907T>A | p.R175H |
44 | 5 | c.493dupC | p.Q165fs |
45 | 6 | c.567_610dup44 | p.E204fs |
46 | 5 | c.469G>T | p.V157F |
47 | 5 | c.366A>T | p.R175H |
48 | 8 | c.818G>A | p.R273H |
49 | 5 | c.233G>C | p.R213W |
50 | 8 | c.797G>A | p.G249E |
52 | 7 | c.733G>A | p.G245S |
53 | 7 | c.680dupC | p.S227fs |
54 | 5 | c.234C>G | p.R175H |
55 | 6 | c.737C>T | p.G266E |
56 | 6 | c.537C>T | p.R249S |
57 | 5 | c.212C>G | p.R248Q |
58 | 6 | c.346_378delGA | p.Q192del |
59 | 7 | c.1037A>T | p.E192C |
60 | 8 | c.211C>G | p.R175H |
61 | 5 | c.537C>T | p.R356W |
63 | 6 | c.637G>T | p.R248Q |
64 | 5 | c.119A>G | p.R175H |
65 | 8 | c.785delG | p.G262fs |
66 | 5 | c.490G>T | p.R248Q |
67 | 8 | c.101delC | p.R213Q |
68 | 5 | c.568G>C | p.R175H |
69 | 6 | c.243G>T | p.R356W |
71 | 7 | c.769C>G | p.L257V |
72 | 7 | c.713G>A | p.C238Y |
73 | 6 | c.1106G>T | p.R175H |
75 | 5 | c.451C>T | p.P151S |
76 | 5 | c.428T>G | p.V143G |
77 | 8 | c.853_857delGAGG | p.E285fs |
79 | 5 | c.547G>C | p.R249S |
80 | 6 | c.208A>T | p.R238W |
81 | 5 | c.524G>T | p.R175H |
82 | 8 | c.670G>C | p.W238T |
83 | 5 | c.527G>T | p.C176F |
84 | 5 | c.536A>G | p.H179R |
85 | 5 | c.404G>T | p.C135F |
86 | 7 | c.743C>G | p.R248Q |
87 | 6 | c.574G>C | p.R175H |
88 | 5 | c.464C>A | p.T155N |
89 | 5 | c.512A>G | p.E171G |
90 | 5 | c.337A>T | p.G245S |
91 | 7 | c.748G>C | p.R249S |
92 | 6 | c.570C>T | p.R248Q |
93 | 5 | c.524G>A | p.R175H |
94 | 6 | c.599delA | p.N200fs |
95 | 7 | c.790delC | p.L287K |
96 | 5 | c.535C>T | p.H179Y |
97 | 7 | c.743C>G | p.R248Q |
99 | 6 | c.643A>C | p.S215R |
100 | 7 | c.730G>T | p.G244C |