Correction
Number | Trivial name (Protein effect) | Systematic name (DNA level) | Location | Variant type | Allele frequency (%) |
---|---|---|---|---|---|
1 | p.S16* | c.47-48delCT | Exon 1 | Deletion | 0.2 |
2 | — | c.61-3T>C | Intron 1 | Splicing | 0.1 |
3 | p.Arg53His | c.158G>A | Exon 2 | Missense | 4.7 |
4 | p.Arg53Cys | c.157C>T | Exon 2 | Missense | 0.1 |
5 | p.Glu44del | c.131-133delAAG | Exon 2 | Deletion | 0.2 |
6 | p.Glu56Asp | c.168G>T | Exon 2 | Missense | 0.1 |
7 | — | c.168+2T>C | Intron 2 | Splicing | 0.1 |
8 | — | c.168+5G>C | Intron 2 | Splicing | 0.1 |
9 | p.Ile65Thr | c.194T>C | Exon 3 | Missense | 0.5 |
10 | p.Ile65Ser | c.194T>G | Exon 3 | Missense | 0.2 |
11 | p.Ser70del | c.208-210delTCT | Exon 3 | Deletion | 2.5 |
12 |
p.Asp75His
△
| c.223G>C | Exon 3 | Missense | 0.1 |
13 | p.Tyr77* | c.231T>G | Exon 3 | Nonsense | 0.1 |
14 |
p.Ile94Val
△
| c.280A>G | Exon 3 | Missense | 0.1 |
15 | p.Asp101Asn | c.301G>A | Exon 3 | Missense | 0.3 |
16 | p.Gly103Asp | c.308G>A | Exon 3 | Missense | 0.2 |
17 | p.His107Arg | c.320A>G | Exon 3 | Missense | 1.8 |
18 | p.Arg111* | c.331C>T | Exon 3 | Nonsense | 4.4 |
19 | p.Glu78Phefs*13 | c.232-235delGAAT | Exon 3 | Deletion | 0.1 |
20 | p.Ile95del | c.284-286deTCA | Exon 3 | Deletion | 0.1 |
21 | IVS3-2A>G | c.353-2A>G | Intron3 | Splicing | 0.1 |
22 | p.Pro147Leu | c.440C>T | Exon 4 | Missense | 0.2 |
23 | — | c.441+1G>A | Intron 4 | Splicing | 0.1 |
24 | — | c.441+3G>C | Intron 4 | Splicing | 0.4 |
25 | — | c.442-1G>A | Intron 4 | Splicing | 3.4 |
26 | — | c.442-1G>C | Intron 4 | Splicing | 0.1 |
27 | — |
c.442-14C>T
△
| Intron 4 | Splicing | 0.1 |
28 | p.Tyr154*△ | c.462C>A | Exon 5 | Nonsense | 0.1 |
29 | p.Arg155His | c.464G>A | Exon 5 | Missense | 0.2 |
30 | p.Arg156Pro | c.466G>C | Exon 5 | Missense | 0.2 |
31 | p.Arg158Trp | c.472C>T | Exon 5 | Missense | 0.5 |
32 | p.Arg158Gln | c.473G>A | Exon 5 | Missense | 0.5 |
33 | p.Gln160* | c.478 C>T | Exon 5 | Nonsense | 0.2 |
34 | p.Phe161Ser | c.482T>C | Exon 5 | Missense | 1.0 |
35 | p.Ala165Asp | c.494C>A | Exon 5 | Missense | 0.1 |
36 | p.Tyr166* | c.498C>G | Exon 5 | Nonsense | 0.6 |
37 | p.Arg169Ser | c.505C>A | Exon 5 | Missense | 0.1 |
38 | p.Arg169Cys | c.505C>T | Exon 5 | Missense | 0.2 |
39 | p.Arg169His | c.506G>A | Exon 5 | Missense | 0.1 |
40 | p.His170Arg | c.509A>G | Exon 5 | Missense | 0.1 |
41 | p.His170Gln | c. 510T>A | Exon 5 | Missense | 0.3 |
42 |
p.Arg155Valfs*40
△
| c.463delC | Exon 5 | Deletion | 0.1 |
43 | — | c.509+1G>A | Intron 5 | Splicing | 0.1 |
44 | — | c.510-1G>A | Intron 5 | Splicing | 0.1 |
45 | — | c.510-1G>C | Intron 5 | Splicing | 0.1 |
46 | p.Gly171Arg | c.511G>A | Exon 6 | Missense | 0.1 |
47 | p.Gln172His | c.516G>T | Exon 6 | Missense | 0.1 |
48 | p.Arg176* | c.526C>T | Exon 6 | Nonsense | 2.0 |
49 | p.Glu178Lys | c.532 G>A | Exon 6 | Missense | 0.1 |
50 | p.Glu183Gly | c.548A>G | Exon 6 | Missense | 0.1 |
51 | p.Trp187* | c.561G>A | Exon 6 | Nonsense | 0.1 |
52 | p.Trp187Arg | c.559T>C | Exon 6 | Missense | 0.1 |
53 |
p.Gly188Val
△
| c.563G>T | Exon 6 | Missense | 0.1 |
54 | p.His201Arg | c.602A>G | Exon 6 | Missense | 0.1 |
55 |
p.Cys203Ser
△
| c.607T>A | Exon 6 | Missense | 0.1 |
56 | p. Ex6-96A>G | c.611A>G | Exon 6 | Splicing | 0.1 |
57 | p.Cys217Tyr | c.650G>A | Exon 6 | Missense | 0.1 |
58 | p.Ile224Thr | c.671T>C | Exon 6 | Missense | 0.4 |
59 |
p.Leu227Val
△
| c.679C>G | Exon 6 | Missense | 0.1 |
60 |
p.Glu228Asp
△
| c.684A>C | Exon 6 | Missense | 0.1 |
61 | p.Val230Ile | c.688G>A | Exon 6 | Missense | 0.5 |
62 | p.Val230A | c.689T>C | Exon 6 | Missense | 0.1 |
63 | p.Gln232* | c.694C>T | Exon 6 | Nonsense | 0.2 |
64 | p.Phe233Leu | c.699C>A | Exon 6 | Missense | 0.2 |
65 |
p.Leu194Glufs*6
△
| c.580C>GA | Exon 6 | Indel | 0.1 |
66 |
p.Ser231Valfs*52
△
| c.690-691insG | Exon 6 | Insertion | 0.1 |
67 | — | c.707-1G>A | Intron 6 | Splicing | 0.2 |
68 | p.Arg241Cys | c.721C>T | Exon 7 | Missense | 4.6 |
69 | p.Arg241His | c.722G>A | Exon 7 | Missense | 0.4 |
70 | p.Arg241Leu | c.722G>T | Exon 7 | Missense | 0.1 |
71 | p.Leu242Phe | c.724C>T | Exon 7 | Missense | 0.2 |
72 | p.Arg243Gln | c.728G>A | Exon 7 | Missense | 17.7 |
73 | p.Arg243* | c.727C>T | Exon 7 | Nonsense | 0.1 |
74 | p.Val245Met | c.733G>A | Exon 7 | Missense | 0.1 |
75 | p.Gly247Val | c.740G>T | Exon 7 | Missense | 1.5 |
76 | p.Gly247Arg | c.739G>C | Exon 7 | Missense | 0.7 |
77 |
p.Ser250Phe
△
| c.749C>T | Exon 7 | Missense | 0.1 |
78 | p.Arg252Gln | c.755G>A | Exon 7 | Missense | 0.6 |
79 | p.Arg252Trp | c.754C>T | Exon 7 | Missense | 0.3 |
80 | p.Arg252Gly | c. 754C>G | Exon 7 | Missense | 0.1 |
81 | p.Arg252Pro | c.755G>C | Exon 7 | Missense | 0.1 |
82 | p.Leu255Ser | c.764T>C | Exon 7 | Missense | 0.4 |
83 | p.Gly257Val | c.770G>T | Exon 7 | Missense | 0.6 |
84 | p.Arg261Gln | c.782G>A | Exon 7 | Missense | 1.7 |
85 | p.Arg261* | c.781C>T | Exon 7 | Nonsense | 0.1 |
86 | p.Phe263Leu | c.787T>C | Exon 7 | Missense | 0.1 |
87 | p.Gln267Glu | c.799C>G | Exon 7 | Missense | 0.2 |
88 |
p.Tyr268*
△
| c.804C>A | Exon 7 | Nonsense | 0.1 |
89 | p.Arg270Lys | c.809G>A | Exon 7 | Missense | 0.2 |
90 | p.Arg270Ile | c. 809G>T | Exon 7 | Missense | 0.1 |
91 | p.His271Arg | c.812A>G | Exon 7 | Missense | 0.1 |
92 | p.Pro275Leu | c.824C>T | Exon 7 | Missense | 0.2 |
93 | p.Met276Lys | c.827T>A | Exon 7 | Missense | 0.2 |
94 | p.Met276Arg | c.827T>G | Exon 7 | Missense | 0.1 |
95 | p.Thr278Ile | c.833C>T | Exon 7 | Missense | 0.1 |
96 | p.Glu280Lys | c.838G>A | Exon 7 | Missense | 0.4 |
97 | p.Pro281Arg | c.842C>G | Exon 7 | Missense | 0.1 |
98 | p.Arg241Profs*100 | c.722delG | Exon 7 | Deletion | 0.5 |
99 | — | c.842+1G>A | Intron 7 | Splicing | 0.2 |
100 | — | c.843-1G>A | Intron 7 | Splicing | 0.2 |
101 | — | c.842+2T>A | Intron 7 | Splicing | 1.5 |
102 | p.Val291Met | c.871G>A | Exon 8 | Missense | 0.1 |
103 | p.Ala300Ser | c.898G>T | Exon 8 | Missense | 0.1 |
104 | p.Ser303Pro | c.907T>C | Exon 8 | Missense | 0.1 |
105 | p.Ser303Profs*38 | c.907delT | Exon 8 | Deletion | 0.1 |
106 | — | c.912+1G>A | Intron 8 | Splicing | 0.1 |
107 | — |
c.912+16T>A
△
| Intron 8 | Splicing | 0.1 |
108 | — | c.913-7A>G | Intron 8 | Splicing | 0.2 |
109 | p.Ser310Phe | c.929C>T | Exon 9 | Missense | 0.1 |
110 |
p.Ser310Cys
△
| c.929C>G | Exon 9 | Missense | 0.1 |
111 | p.Gly312Val | c.935G>T | Exon 9 | Missense | 0.1 |
112 | p.Pro314Thr | c.940C>A | Exon 9 | Missense | 0.4 |
113 | p.Ala322Thr | c.964G>A | Exon 9 | Missense | 0.2 |
114 | p.Ile324Asn | c.971T>A | Exon 10 | Missense | 0.4 |
115 | p.Trp326* | c.977G>A | Exon 10 | Nonsense | 0.2 |
116 | p.Phe331Ser | c.992T>C | Exon 10 | Missense | 0.1 |
117 |
p.Ser339Phe
△
| c.1016C>T | Exon 10 | Missense | 0.1 |
118 |
p.Lys341Asn
△
| c.1023G>C | Exon 10 | Missense | 0.1 |
119 | p.Ala342Hisfs*58 | c.1024delG | Exon 10 | Deletion | 0.1 |
120 | p.Gly344Asp | c.1031G>A | Exon 10 | Missense | 0.1 |
121 | p.Gly344Ser | c.1030G>A | Exon 10 | Missense | 0.1 |
122 | p.Ala345Thr | c.1033G>A | Exon 10 | Missense | 0.1 |
123 | p.Ser349Ala | c.1045T>G | Exon 10 | Missense | 0.4 |
124 | p.Gly352Arg | c.1054G>C | Exon 10 | Missense | 0.1 |
125 | p.Gln355* | c.1063C>T | Exon 10 | Nonsense | 0.1 |
126 | — | c.1066-1G>T | Intron 10 | Splicing | 0.2 |
127 | — | c.1066-11G>A | Intron 10 | Splicing | 0.1 |
128 | — |
c.1066-13delT
△
| Intron 10 | Splicing | 0.1 |
129 | — | c.1066-14C>G | Intron 10 | Splicing | 0.1 |
130 | p.Tyr356* | c.1068C>A | Exon 11 | Nonsense | 4.7 |
131 | p.Cys357* | c.1071C>A | Exon 11 | Nonsense | 0.1 |
132 |
p.Pro362Ser
△
| c.1084C>T | Exon 11 | Missense | 0.1 |
133 | p.Pro362Thr | c.1084C>A | Exon 11 | Missense | 0.1 |
134 | p.Lys363Asn | c.1089G>T | Exon 11 | Missense | 0.2 |
135 |
p.Pro366Ala
△
| c.1096C>G | Exon 11 | Missense | 0.1 |
136 | p.Thr372Ser | c.1114A>T | Exon 11 | Missense | 0.1 |
137 | p.Thr372Arg | c.1115 C>G | Exon 11 | Missense | 0.1 |
138 | p.Ala373Thr | c.1117G>A | Exon 11 | Missense | 0.1 |
139 | p.Gln375Glu | c.1123C>G | Exon 11 | Missense | 0.3 |
140 | p.Thr380Met | c.1139C>T | Exon 11 | Missense | 0.2 |
141 | p.Val388Met | c.1162G>A | Exon 11 | Missense | 0.1 |
142 | p.Ser391Thr | c.1172G>C | Exon 11 | Missense | 0.1 |
143 | p.Phe392Ile | c.1174T>A | Exon 11 | Missense | 0.4 |
144 | p.Lys398= | c.1194A>G | Exon 11 | Splicing | 0.1 |
145 | p.Val399= | c.1197A>T | Exon 11 | Splicing | 6.4 |
146 | p.Arg400Thr | c.1199G>C | Exon 11 | Missense | 0.5 |
147 | p.Arg400Lys | c.1199G>A | Exon 11 | Missense | 0.2 |
148 | — | c.1199+1G>C | Intron11 | Splicing | 0.2 |
149 | — | c.1199+2T>C | Intron 11 | Splicing | 0.2 |
150 | — | c.1200-1G>C | Intron 11 | Splicing | 0.1 |
151 | — | c.1200-1G>A | Intron 11 | Splicing | 0.2 |
152 | — |
c.1200-3T>G
△
| Intron11 | Splicing | 0.2 |
153 | p.Ala403Val | c.1208C>T | Exon 12 | Missense | 1.0 |
154 | p.Arg408Trp | c.1222C>T | Exon 12 | Missense | 0.4 |
155 | p.Arg408Gln | c.1223G>A | Exon 12 | Missense | 0.6 |
156 | p.Arg413Pro | c.1238G>C | Exon 12 | Missense | 4.6 |
157 | p.Tyr414* | c.1242C>A | Exon 12 | Nonsense | 0.1 |
158 | p.Asp415Tyr | c.1243G>T | Exon 12 | Missense | 0.1 |
159 | p.Thr418Pro | c.1252A>C | Exon 12 | Missense | 0.6 |
160 | p.Gln419Arg | c.1256A>G | Exon 12 | Missense | 0.7 |
161 | p.Ile421Thr | c.1262T>C | Exon 12 | Missense | 0.2 |
162 | p.Gln429Lys | c.1285C>A | Exon 12 | Missense | 0.1 |
163 | p.Leu430Pro | c.1289T>C | Exon 12 | Missense | 0.2 |
164 | p.Ala434Asp | c.1301C>A | Exon 12 | Missense | 1.7 |
165 | — | c.1315+4A>G | Intron 12 | Splicing | 0.1 |
166 | — | c.1315+6T>A | Intron 12 | Splicing | 0.3 |
167 | — | c.1316-2A>C | Intron 12 | Splicing | 0.2 |
168 |
p.Leu444Phe
△
| c.1330C>T | Exon 13 | Missense | 0.1 |
169 | p.*453Proext*33 | c.1357delTAAAG | Exon 13 | Deletion | 0.1 |
170 | 5’ UTR ~E1 | Deletion | 0.6 | ||
171 | c.(168+1_169-1)_c. (352+1_353-1)del | E3 | Deletion | 0.1 | |
172 | c. (441+1_442-1)_(842+1_843-1)del | E4~E7 | Deletion | 0.1 | |
173 | c. (441+1_442-1) _c. (509+1_510-1)del | E5 | Deletion | 0.1 | |
174 | c. (441+1_442-1)_(509+1_510-1)del | E4~E5 | Deletion | 0.2 | |
Detected | 96.6 | ||||
Unknown | 3.4 | ||||
Total | 100 |