LAMA4 missense variants in ExAC

LAMA4 gene summary
LAMA4 variants in DCM

The table below lists the LAMA4 missense variants found in the ExAC population database. Click on each variant for more details, including presence in the 1000 Genomes and Exome Sequencing Project databases, a breakdown by ethnic class and the variant's role in inherited cardiac disease. Use the form below to customise the variant selection. The table can be sorted by variant location, variant type or ExAC frequency.




No. Genomic coord.✝ Variant (CDS)▼ Variant (Protein) Variant Type▼ ExAC frequency▼Populations*
1. 112575342 c.11G>A p.S4N missense 0.00000923●●●●●●
2. 112575331 c.22C>T p.R8C missense 0.00002797●●●●●●
3. 112575331 c.22C>A p.R8S missense 0.00000932●●●●●●
4. 112575313 c.40T>C p.W14R missense 0.00001916●●●●●●
5. 112575290 c.63C>G p.C21W missense 0.00001067●●●●●●
6. 112575286 c.67C>T p.R23C missense 0.00008823●●●●●●
7. 112575286 c.67C>G p.R23G missense 0.00001103●●●●●●
8. 112575268 c.85G>A p.D29N missense 0.00021637●●●●●●
9. 112575268 c.85G>C p.D29H missense 0.00157228●●●●●●
10. 112575264 c.89A>G p.N30S missense 0.00001498●●●●●●
11. 112575261 c.92C>T p.A31V missense 0.00001567●●●●●●
12. 112575255 c.98C>T p.P33L missense 0.00001645●●●●●●
13. 112575248 c.105C>G p.D35E missense 0.00003497●●●●●●
14. 112575246 c.107T>C p.I36T missense 0.00008804●●●●●●
15. 112575241 c.112G>A p.G38R missense 0.00007314●●●●●●
16. 112575231 c.122C>T p.A41V missense 0.00015442●●●●●●
17. 112575200 c.153C>A p.S51R missense 0.00002045●●●●●●
18. 112575193 c.160C>T p.R54C missense 0.00002023●●●●●●
19. 112575190 c.163G>T p.V55L missense 0.00006076●●●●●●
20. 112575186 c.167C>T p.A56V missense 0.00023906●●●●●●
21. 112575181 c.172G>A p.G58R missense 0.00001950●●●●●●
22. 112575165 c.188C>T p.A63V missense 0.00005520●●●●●●
23. 112575162 c.191C>T p.A64V missense 0.00003391●●●●●●
24. 112537664 c.202A>G p.N68D missense 0.00001657●●●●●●
25. 112537663 c.203A>G p.N68S missense 0.00001655●●●●●●
26. 112537655 c.211T>A p.F71I missense 0.00001652●●●●●●
27. 112537651 c.215T>C p.F72S missense 0.00002476●●●●●●
28. 112537645 c.221C>A p.T74N missense 0.00002475●●●●●●
29. 112537642 c.224T>C p.L75P missense 0.00000825●●●●●●
30. 112537619 c.247G>A p.D83N missense 0.00001649●●●●●●
31. 112537619 c.247G>C p.D83H missense 0.00000824●●●●●●
32. 112537612 c.254A>G p.N85S missense 0.00005770●●●●●●
33. 112537600 c.266A>G p.N89S missense 0.00000824●●●●●●
34. 112537598 c.268G>A p.E90K missense 0.00000824●●●●●●
35. 112537597 c.269A>G p.E90G missense 0.00000824●●●●●●
36. 112537586 c.280G>A p.G94S missense 0.00555601●●●●●●
37. 112537579 c.287G>A p.G96E missense 0.00000824●●●●●●
38. 112528337 c.307C>T p.R103W missense 0.00016500●●●●●●
39. 112528337 c.307C>G p.R103G missense 0.00004950●●●●●●
40. 112528336 c.308G>T p.R103L missense 0.00000825●●●●●●
41. 112528324 c.320G>A p.G107E missense 0.00000825●●●●●●
42. 112528309 c.335A>G p.K112R missense 0.00000825●●●●●●
43. 112528301 c.343G>C p.D115H missense 0.00003300●●●●●●
44. 112528301 c.343G>A p.D115N missense 0.00000825●●●●●●
45. 112528298 c.346G>A p.G116S missense 0.00000825●●●●●●
46. 112528289 c.355G>A p.G119R missense 0.00004126●●●●●●
47. 112528277 c.367A>G p.R123G missense 0.00000825●●●●●●
48. 112528275 c.369G>T p.R123S missense 0.00002476●●●●●●
49. 112528274 c.370G>C p.G124R missense 0.00004952●●●●●●
50. 112528271 c.373G>T p.A125S missense 0.00047872●●●●●●
51. 112528252 c.392C>T p.P131L missense 0.00008257●●●●●●
52. 112528252 c.392C>A p.P131Q missense 0.00000826●●●●●●
53. 112528249 c.395G>C p.C132S missense 0.00000826●●●●●●
54. 112528240 c.404C>T p.P135L missense 0.00000826●●●●●●
55. 112528232 c.412C>T p.H138Y missense 0.00000826●●●●●●
56. 112528226 c.418G>A p.A140T missense 0.00000827●●●●●●
57. 112528225 c.419C>T p.A140V missense 0.00001654●●●●●●
58. 112522889 c.423T>G p.N141K missense 0.00000825●●●●●●
59. 112522864 c.448A>T p.N150Y missense 0.00001649●●●●●●
60. 112522857 c.455C>T p.A152V missense 0.00000824●●●●●●
61. 112522852 c.460C>T p.R154W missense 0.05307488●●●●●●
62. 112522851 c.461G>A p.R154Q missense 0.00000824●●●●●●
63. 112522837 c.475G>A p.E159K missense 0.00000824●●●●●●
64. 112522809 c.503G>A p.R168K missense 0.00006591●●●●●●
65. 112513042 c.514G>A p.G172S missense 0.00022479●●●●●●
66. 112513035 c.521A>G p.Y174C missense 0.00005971●●●●●●
67. 112513030 c.526A>G p.N176D missense 0.00000845●●●●●●
68. 112513026 c.530C>G p.P177R missense 0.00001683●●●●●●
69. 112513009 c.547A>G p.T183A missense 0.00002502●●●●●●
70. 112512994 c.562G>T p.D188Y missense 0.00000830●●●●●●
71. 112512990 c.566G>T p.C189F missense 0.00000830●●●●●●
72. 112512984 c.572G>A p.G191E missense 0.00003318●●●●●●
73. 112512978 c.578C>T p.S193L missense 0.00005801●●●●●●
74. 112512951 c.605G>A p.C202Y missense 0.00001654●●●●●●
75. 112512939 c.617C>G p.T206S missense 0.00000827●●●●●●
76. 112512925 c.631A>C p.N211H missense 0.00003306●●●●●●
77. 112512916 c.640C>T p.R214C missense 0.00003306●●●●●●
78. 112512915 c.641G>A p.R214H missense 0.00133093●●●●●●
79. 112512904 c.652G>A p.G218R missense 0.00001656●●●●●●
80. 112512889 c.667C>T p.R223C missense 0.00000829●●●●●●
81. 112512888 c.668G>A p.R223H missense 0.00018235●●●●●●
82. 112512883 c.673G>C p.A225P missense 0.00006636●●●●●●
83. 112512883 c.673G>A p.A225T missense 0.00002488●●●●●●
84. 112512882 c.674C>T p.A225V missense 0.00043967●●●●●●
85. 112512880 c.676C>T p.P226S missense 0.00000830●●●●●●
86. 112512873 c.683A>G p.Y228C missense 0.00000831●●●●●●
87. 112512870 c.686A>C p.Y229S missense 0.00001662●●●●●●
88. 112512862 c.694G>A p.A232T missense 0.00001667●●●●●●
89. 112512862 c.694G>T p.A232S missense 0.00001667●●●●●●
90. 112512857 c.699G>T p.R233S missense 0.00000835●●●●●●
91. 112510404 c.722G>C p.C241S missense 0.00000831●●●●●●
92. 112510396 c.730G>A p.G244R missense 0.00000829●●●●●●
93. 112510396 c.730G>C p.G244R missense 0.00016580●●●●●●
94. 112510393 c.733G>A p.G245R missense 0.00000828●●●●●●
95. 112510389 c.737G>C p.G246A missense 0.00001654●●●●●●
96. 112510389 c.737G>A p.G246D missense 0.00001654●●●●●●
97. 112510369 c.757G>A p.G253R missense 0.00002477●●●●●●
98. 112510350 c.776G>A p.G259D missense 0.00000826●●●●●●
99. 112510336 c.790A>G p.T264A missense 0.00002481●●●●●●
100. 112508800 c.797G>A p.C266Y missense 0.00000882●●●●●●
101. 112508794 c.803A>G p.K268R missense 0.00032926●●●●●●
102. 112508789 c.808G>A p.V270I missense 0.00005141●●●●●●
103. 112508786 c.811T>C p.W271R missense 0.00000855●●●●●●
104. 112508780 c.817C>A p.L273M missense 0.00000848●●●●●●
105. 112508770 c.827C>A p.A276E missense 0.99999176●●●●●●
106. 112508770 c.827C>G p.A276G missense 0.00000824●●●●●●
107. 112508765 c.832C>T p.R278W missense 0.00001650●●●●●●
108. 112508755 c.842C>G p.A281G missense 0.00063501●●●●●●
109. 112508750 c.847T>C p.S283P missense 0.00000824●●●●●●
110. 112508750 c.847T>G p.S283A missense 0.00000824●●●●●●
111. 112508746 c.851T>C p.I284T missense 0.00000824●●●●●●
112. 112508745 c.852C>G p.I284M missense 0.00000824●●●●●●
113. 112508744 c.853G>A p.E285K missense 0.00006595●●●●●●
114. 112508743 c.854A>T p.E285V missense 0.00000824●●●●●●
115. 112508729 c.868G>A p.G290R missense 0.00001649●●●●●●
116. 112508719 c.878G>A p.S293N missense 0.00007417●●●●●●
117. 112508717 c.880G>A p.V294I missense 0.00013187●●●●●●
118. 112508708 c.889G>A p.G297R missense 0.00002472●●●●●●
119. 112508705 c.892G>A p.A298T missense 0.00000824●●●●●●
120. 112508702 c.895G>A p.A299T missense 0.00001648●●●●●●
121. 112508699 c.898G>A p.A300T missense 0.00001648●●●●●●
122. 112508696 c.901C>T p.H301Y missense 0.00001648●●●●●●
123. 112508692 c.905G>A p.R302K missense 0.00000824●●●●●●
124. 112508690 c.907C>G p.H303D missense 0.00005768●●●●●●
125. 112508687 c.910G>A p.V304M missense 0.00001648●●●●●●
126. 112508672 c.925G>A p.A309T missense 0.00000824●●●●●●
127. 112508671 c.926C>T p.A309V missense 0.00000824●●●●●●
128. 112508666 c.931A>G p.I311V missense 0.00001648●●●●●●
129. 112506537 c.958G>A p.E320K missense 0.00000824●●●●●●
130. 112506536 c.959A>G p.E320G missense 0.00000824●●●●●●
131. 112506534 c.961A>G p.R321G missense 0.00000824●●●●●●
132. 112506530 c.965A>G p.E322G missense 0.00000824●●●●●●
133. 112506528 c.967A>T p.N323Y missense 0.00000824●●●●●●
134. 112506519 c.976G>A p.A326T missense 0.00009885●●●●●●
135. 112506519 c.976G>T p.A326S missense 0.00000824●●●●●●
136. 112506518 c.977C>T p.A326V missense 0.00000824●●●●●●
137. 112506506 c.989T>C p.I330T missense 0.00001648●●●●●●
138. 112506498 c.997A>C p.N333H missense 0.00000824●●●●●●
139. 112506498 c.997A>G p.N333D missense 0.00000824●●●●●●
140. 112506494 c.1001A>G p.N334S missense 0.00000824●●●●●●
141. 112506482 c.1013C>A p.T338K missense 0.00000824●●●●●●
142. 112506482 c.1013C>T p.T338M missense 0.00001648●●●●●●
143. 112506479 c.1016T>C p.M339T missense 0.00000824●●●●●●
144. 112506459 c.1036G>A p.V346I missense 0.00004119●●●●●●
145. 112506454 c.1041G>C p.E347D missense 0.00000824●●●●●●
146. 112506451 c.1044A>T p.E348D missense 0.00000824●●●●●●
147. 112499425 c.1066G>A p.A356T missense 0.00000838●●●●●●
148. 112499421 c.1070C>T p.S357F missense 0.00000833●●●●●●
149. 112499404 c.1087G>T p.V363F missense 0.00000826●●●●●●
150. 112499390 c.1101C>A p.S367R missense 0.00000825●●●●●●
151. 112499385 c.1106A>G p.D369G missense 0.00000825●●●●●●
152. 112499379 c.1112T>C p.I371T missense 0.00000824●●●●●●
153. 112499372 c.1119C>A p.H373Q missense 0.00000824●●●●●●
154. 112499371 c.1120G>A p.A374T missense 0.00003297●●●●●●
155. 112499364 c.1127A>G p.Q376R missense 0.00000824●●●●●●
156. 112499363 c.1128G>C p.Q376H missense 0.00000824●●●●●●
157. 112499354 c.1137G>T p.E379D missense 0.00000824●●●●●●
158. 112499346 c.1145A>G p.H382R missense 0.00001649●●●●●●
159. 112499341 c.1150A>G p.M384V missense 0.00000824●●●●●●
160. 112499328 c.1163T>C p.I388T missense 0.00000825●●●●●●
161. 112496661 c.1190A>G p.Y397C missense 0.00000824●●●●●●
162. 112496659 c.1192T>C p.Y398H missense 0.00000824●●●●●●
163. 112496631 c.1220A>G p.K407R missense 0.00000824●●●●●●
164. 112496630 c.1221G>T p.K407N missense 0.00000824●●●●●●
165. 112496597 c.1254G>T p.K418N missense 0.00003295●●●●●●
166. 112496596 c.1255A>T p.M419L missense 0.00000824●●●●●●
167. 112496595 c.1256T>C p.M419T missense 0.00009060●●●●●●
168. 112496574 c.1277G>A p.R426H missense 0.00006589●●●●●●
169. 112496562 c.1289T>C p.F430S missense 0.00001647●●●●●●
170. 112496560 c.1291A>G p.T431A missense 0.00004942●●●●●●
171. 112496559 c.1292C>G p.T431S missense 0.00000824●●●●●●
172. 112496554 c.1297C>T p.R433W missense 0.00003295●●●●●●
173. 112496554 c.1297C>G p.R433G missense 0.00001647●●●●●●
174. 112496545 c.1306G>A p.V436M missense 0.00000824●●●●●●
175. 112496541 c.1310A>G p.D437G missense 0.00001647●●●●●●
176. 112496521 c.1330T>A p.Y444N missense 0.00000824●●●●●●
177. 112496517 c.1334A>G p.E445G missense 0.00000824●●●●●●
178. 112494000 c.1343G>T p.S448I missense 0.00001698●●●●●●
179. 112493979 c.1364G>A p.R455Q missense 0.00004155●●●●●●
180. 112493974 c.1369C>G p.H457D missense 0.00004154●●●●●●
181. 112493964 c.1379C>T p.T460I missense 0.00000827●●●●●●
182. 112493962 c.1381C>T p.R461C missense 0.00002482●●●●●●
183. 112493956 c.1387C>G p.L463V missense 0.00000826●●●●●●
184. 112493953 c.1390T>C p.F464L missense 0.00003304●●●●●●
185. 112493944 c.1399G>A p.V467I missense 0.00008254●●●●●●
186. 112493941 c.1402C>G p.L468V missense 0.00001651●●●●●●
187. 112493940 c.1403T>C p.L468P missense 0.00000825●●●●●●
188. 112493928 c.1415A>T p.D472V missense 0.00000825●●●●●●
189. 112493920 c.1423A>G p.N475D missense 0.00000825●●●●●●
190. 112493909 c.1434G>T p.L478F missense 0.00001649●●●●●●
191. 112493905 c.1438G>C p.D480H missense 0.00000824●●●●●●
192. 112493889 c.1454T>A p.L485H missense 0.00276093●●●●●●
193. 112493872 c.1471T>C p.Y491H missense 0.66491939●●●●●●
194. 112493861 c.1482T>A p.D494E missense 0.00003296●●●●●●
195. 112493857 c.1486G>A p.E496K missense 0.00000824●●●●●●
196. 112493842 c.1501G>A p.A501T missense 0.00004120●●●●●●
197. 112493835 c.1508C>T p.A503V missense 0.00000824●●●●●●
198. 112493824 c.1519C>T p.R507W missense 0.00000824●●●●●●
199. 112493823 c.1520G>A p.R507Q missense 0.00004946●●●●●●
200. 112493820 c.1523A>T p.D508V missense 0.00000824●●●●●●
201. 112486471 c.1538A>G p.Q513R missense 0.00000824●●●●●●
202. 112486469 c.1540G>C p.E514Q missense 0.00000824●●●●●●
203. 112486463 c.1546G>T p.V516L missense 0.00005767●●●●●●
204. 112486457 c.1552G>A p.E518K missense 0.00000824●●●●●●
205. 112486450 c.1559T>C p.M520T missense 0.00000824●●●●●●
206. 112486448 c.1561G>A p.E521K missense 0.00000824●●●●●●
207. 112486445 c.1564G>A p.V522M missense 0.00000824●●●●●●
208. 112486432 c.1577C>A p.S526Y missense 0.00000824●●●●●●
209. 112486432 c.1577C>T p.S526F missense 0.00000824●●●●●●
210. 112486426 c.1583G>A p.S528N missense 0.00009062●●●●●●
211. 112486417 c.1592C>T p.A531V missense 0.00000824●●●●●●
212. 112486412 c.1597T>C p.S533P missense 0.00000824●●●●●●
213. 112486399 c.1610C>G p.P537R missense 0.00000824●●●●●●
214. 112486397 c.1612C>T p.R538C missense 0.00161471●●●●●●
215. 112486396 c.1613G>A p.R538H missense 0.00003295●●●●●●
216. 112486379 c.1630C>T p.L544F missense 0.00002472●●●●●●
217. 112486369 c.1640T>C p.I547T missense 0.00013181●●●●●●
218. 112480078 c.1652C>T p.A551V missense 0.00006988●●●●●●
219. 112480066 c.1664A>T p.Y555F missense 0.00000833●●●●●●
220. 112480056 c.1674A>G p.I558M missense 0.00000829●●●●●●
221. 112480052 c.1678G>A p.G560R missense 0.00000828●●●●●●
222. 112480036 c.1694T>A p.L565Q missense 0.00000826●●●●●●
223. 112480025 c.1705C>G p.L569V missense 0.00000825●●●●●●
224. 112480017 c.1713C>A p.N571K missense 0.00000825●●●●●●
225. 112480015 c.1715T>C p.L572P missense 0.00000825●●●●●●
226. 112480007 c.1723C>G p.L575V missense 0.00000825●●●●●●
227. 112479988 c.1742A>G p.Q581R missense 0.00000824●●●●●●
228. 112479982 c.1748C>G p.A583G missense 0.00000824●●●●●●
229. 112479980 c.1750A>G p.I584V missense 0.00002473●●●●●●
230. 112479974 c.1756C>T p.H586Y missense 0.00021431●●●●●●
231. 112479973 c.1757A>G p.H586R missense 0.00003297●●●●●●
232. 112479972 c.1758T>G p.H586Q missense 0.00000824●●●●●●
233. 112479963 c.1767C>A p.D589E missense 0.00002473●●●●●●
234. 112479952 c.1778A>C p.E593A missense 0.00000824●●●●●●
235. 112479943 c.1787A>T p.E596V missense 0.00001649●●●●●●
236. 112479938 c.1792A>G p.S598G missense 0.00002473●●●●●●
237. 112476892 c.1813G>A p.D605N missense 0.00000824●●●●●●
238. 112476891 c.1814A>T p.D605V missense 0.00002472●●●●●●
239. 112476889 c.1816A>G p.M606V missense 0.00002472●●●●●●
240. 112476883 c.1822G>A p.G608R missense 0.00004120●●●●●●
241. 112476868 c.1837G>A p.A613T missense 0.00004943●●●●●●
242. 112476859 c.1846G>A p.A616T missense 0.00001648●●●●●●
243. 112476853 c.1852A>G p.N618D missense 0.00002472●●●●●●
244. 112476852 c.1853A>G p.N618S missense 0.00002472●●●●●●
245. 112476842 c.1863A>C p.E621D missense 0.00000824●●●●●●
246. 112476837 c.1868T>C p.I623T missense 0.00000824●●●●●●
247. 112476829 c.1876T>C p.Y626H missense 0.00000824●●●●●●
248. 112476828 c.1877A>G p.Y626C missense 0.00000824●●●●●●
249. 112476826 c.1879G>A p.V627I missense 0.00000824●●●●●●
250. 112476807 c.1898C>T p.T633I missense 0.00000824●●●●●●
251. 112476787 c.1918A>G p.T640A missense 0.00000824●●●●●●
252. 112476780 c.1925A>G p.D642G missense 0.00001648●●●●●●
253. 112476777 c.1928G>A p.R643Q missense 0.00002472●●●●●●
254. 112476148 c.1940C>T p.A647V missense 0.00000825●●●●●●
255. 112476142 c.1946G>A p.S649N missense 0.00000824●●●●●●
256. 112476121 c.1967T>C p.I656T missense 0.00071702●●●●●●
257. 112476119 c.1969T>A p.Y657N missense 0.00000824●●●●●●
258. 112476115 c.1973A>C p.H658P missense 0.00000824●●●●●●
259. 112476114 c.1974T>G p.H658Q missense 0.00000824●●●●●●
260. 112476110 c.1978G>T p.D660Y missense 0.00114537●●●●●●
261. 112476107 c.1981G>A p.E661K missense 0.00000824●●●●●●
262. 112476094 c.1994T>C p.L665P missense 0.00003296●●●●●●
263. 112476094 c.1994T>G p.L665R missense 0.00000824●●●●●●
264. 112476083 c.2005G>T p.A669S missense 0.00000824●●●●●●
265. 112476083 c.2005G>A p.A669T missense 0.00000824●●●●●●
266. 112476082 c.2006C>A p.A669D missense 0.00000824●●●●●●
267. 112476075 c.2013A>C p.E671D missense 0.00000824●●●●●●
268. 112476073 c.2015T>G p.L672R missense 0.00001648●●●●●●
269. 112476062 c.2026G>C p.A676P missense 0.00000824●●●●●●
270. 112476061 c.2027C>A p.A676E missense 0.00000824●●●●●●
271. 112476055 c.2033C>T p.S678F missense 0.00003296●●●●●●
272. 112471807 c.2058C>A p.D686E missense 0.00000824●●●●●●
273. 112471806 c.2059A>T p.T687S missense 0.00001647●●●●●●
274. 112471799 c.2066G>C p.R689T missense 0.00000824●●●●●●
275. 112471798 c.2067G>T p.R689S missense 0.00000824●●●●●●
276. 112471797 c.2068C>T p.R690C missense 0.00000824●●●●●●
277. 112471796 c.2069G>A p.R690H missense 0.00002471●●●●●●
278. 112471790 c.2075G>A p.G692D missense 0.00000824●●●●●●
279. 112471788 c.2077G>A p.G693R missense 0.00000824●●●●●●
280. 112471779 c.2086G>A p.A696T missense 0.00000824●●●●●●
281. 112471752 c.2113C>T p.L705F missense 0.00000824●●●●●●
282. 112471749 c.2116A>G p.S706G missense 0.00000824●●●●●●
283. 112471745 c.2120A>G p.D707G missense 0.00002471●●●●●●
284. 112471743 c.2122G>T p.A708S missense 0.00001647●●●●●●
285. 112471740 c.2125G>A p.V709I missense 0.00022239●●●●●●
286. 112471718 c.2147A>G p.E716G missense 0.00000824●●●●●●
287. 112471716 c.2149A>G p.R717G missense 0.00000824●●●●●●
288. 112471715 c.2150G>A p.R717K missense 0.00083192●●●●●●
289. 112469538 c.2153G>C p.G718A missense 0.00000825●●●●●●
290. 112469527 c.2164C>G p.Q722E missense 0.00000825●●●●●●
291. 112469524 c.2167C>T p.R723C missense 0.00001649●●●●●●
292. 112469523 c.2168G>A p.R723H missense 0.00004948●●●●●●
293. 112469520 c.2171T>C p.L724P missense 0.00000825●●●●●●
294. 112469520 c.2171T>G p.L724R missense 0.00000825●●●●●●
295. 112469517 c.2174G>A p.G725E missense 0.00000825●●●●●●
296. 112469512 c.2179T>C p.S727P missense 0.00000824●●●●●●
297. 112469509 c.2182A>G p.R728G missense 0.00001649●●●●●●
298. 112469497 c.2194G>A p.E732K missense 0.00003298●●●●●●
299. 112469487 c.2204A>G p.N735S missense 0.00003297●●●●●●
300. 112469481 c.2210C>T p.T737M missense 0.00000824●●●●●●
301. 112469481 c.2210C>A p.T737K missense 0.00000824●●●●●●
302. 112469461 c.2230G>A p.A744T missense 0.00000824●●●●●●
303. 112469449 c.2242A>C p.M748L missense 0.00000824●●●●●●
304. 112469446 c.2245G>C p.A749P missense 0.00000824●●●●●●
305. 112469446 c.2245G>A p.A749T missense 0.00000824●●●●●●
306. 112469441 c.2250C>G p.N750K missense 0.00000824●●●●●●
307. 112469439 c.2252A>G p.N751S missense 0.00000824●●●●●●
308. 112469426 c.2265G>T p.W755C missense 0.00000824●●●●●●
309. 112469410 c.2281C>T p.H761Y missense 0.00000824●●●●●●
310. 112469404 c.2287G>T p.D763Y missense 0.00002472●●●●●●
311. 112469395 c.2296G>A p.A766T missense 0.00001648●●●●●●
312. 112469379 c.2312T>C p.V771A missense 0.00000824●●●●●●
313. 112466121 c.2347G>A p.E783K missense 0.00000841●●●●●●
314. 112466118 c.2350G>A p.V784I missense 0.00000837●●●●●●
315. 112466100 c.2368G>T p.D790Y missense 0.00000828●●●●●●
316. 112466091 c.2377C>T p.R793C missense 0.00008269●●●●●●
317. 112466090 c.2378G>A p.R793H missense 0.00001653●●●●●●
318. 112466087 c.2381C>T p.T794M missense 0.00003306●●●●●●
319. 112466084 c.2384T>C p.V795A missense 0.00000826●●●●●●
320. 112466073 c.2395C>G p.R799G missense 0.00000825●●●●●●
321. 112466062 c.2406C>G p.S802R missense 0.00000825●●●●●●
322. 112466049 c.2419A>G p.S807G missense 0.00000825●●●●●●
323. 112466040 c.2428A>T p.R810W missense 0.00003298●●●●●●
324. 112466039 c.2429G>T p.R810M missense 0.00001649●●●●●●
325. 112466025 c.2443A>G p.I815V missense 0.00001649●●●●●●
326. 112466024 c.2444T>C p.I815T missense 0.00001649●●●●●●
327. 112463474 c.2493T>G p.F831L missense 0.00000824●●●●●●
328. 112463461 c.2506G>C p.A836P missense 0.00000824●●●●●●
329. 112463445 c.2522C>T p.S841L missense 0.00000824●●●●●●
330. 112463437 c.2530A>G p.S844G missense 0.00000824●●●●●●
331. 112463428 c.2539G>A p.D847N missense 0.00000824●●●●●●
332. 112463420 c.2547G>C p.K849N missense 0.00000824●●●●●●
333. 112463419 c.2548G>A p.A850T missense 0.00007415●●●●●●
334. 112463412 c.2555C>T p.T852M missense 0.00001648●●●●●●
335. 112463394 c.2573T>C p.M858T missense 0.00000824●●●●●●
336. 112463393 c.2574G>T p.M858I missense 0.00002471●●●●●●
337. 112463389 c.2578C>A p.P860T missense 0.00004943●●●●●●
338. 112463385 c.2582C>G p.P861R missense 0.00003295●●●●●●
339. 112463377 c.2590C>T p.R864W missense 0.00006590●●●●●●
340. 112463376 c.2591G>A p.R864Q missense 0.00006591●●●●●●
341. 112463374 c.2593C>G p.P865A missense 0.00048604●●●●●●
342. 112463374 c.2593C>T p.P865S missense 0.00000824●●●●●●
343. 112463373 c.2594C>T p.P865L missense 0.00001648●●●●●●
344. 112463368 c.2599C>G p.L867V missense 0.00006591●●●●●●
345. 112463362 c.2605G>A p.E869K missense 0.00003295●●●●●●
346. 112463353 c.2614G>C p.D872H missense 0.00001648●●●●●●
347. 112463323 c.2644A>C p.N882H missense 0.00002474●●●●●●
348. 112462701 c.2651A>T p.K884I missense 0.00000829●●●●●●
349. 112462695 c.2657A>G p.E886G missense 0.00000828●●●●●●
350. 112462668 c.2684A>T p.D895V missense 0.00000825●●●●●●
351. 112462664 c.2688T>G p.N896K missense 0.00000825●●●●●●
352. 112462654 c.2698G>A p.V900I missense 0.00001649●●●●●●
353. 112462638 c.2714C>T p.T905I missense 0.00000824●●●●●●
354. 112462620 c.2732C>T p.P911L missense 0.00000824●●●●●●
355. 112462611 c.2741C>A p.S914Y missense 0.00000824●●●●●●
356. 112462603 c.2749G>A p.V917I missense 0.00003295●●●●●●
357. 112462596 c.2756C>T p.S919F missense 0.00000824●●●●●●
358. 112462591 c.2761C>A p.P921T missense 0.00001648●●●●●●
359. 112462563 c.2789A>G p.E930G missense 0.00119434●●●●●●
360. 112462113 c.2804A>G p.H935R missense 0.00000825●●●●●●
361. 112462112 c.2805T>A p.H935Q missense 0.00000825●●●●●●
362. 112462106 c.2811G>T p.K937N missense 0.00001650●●●●●●
363. 112462106 c.2811G>C p.K937N missense 0.00000825●●●●●●
364. 112462098 c.2819T>C p.L940S missense 0.00002474●●●●●●
365. 112462096 c.2821A>G p.T941A missense 0.00000825●●●●●●
366. 112462093 c.2824G>C p.V942L missense 0.00000824●●●●●●
367. 112462089 c.2828C>T p.P943L missense 0.00002474●●●●●●
368. 112462080 c.2837G>A p.S946N missense 0.00000824●●●●●●
369. 112462040 c.2877T>G p.F959L missense 0.00000825●●●●●●
370. 112462038 c.2879C>T p.S960L missense 0.00001650●●●●●●
371. 112462026 c.2891C>T p.S964F missense 0.00009900●●●●●●
372. 112462003 c.2914G>T p.D972Y missense 0.00000826●●●●●●
373. 112461994 c.2923T>C p.F975L missense 0.00000826●●●●●●
374. 112461988 c.2929G>A p.V977I missense 0.00023161●●●●●●
375. 112461987 c.2930T>C p.V977A missense 0.00001654●●●●●●
376. 112461080 c.2963C>T p.T988I missense 0.00000825●●●●●●
377. 112461070 c.2973C>A p.N991K missense 0.00000825●●●●●●
378. 112461045 c.2998G>C p.E1000Q missense 0.00000824●●●●●●
379. 112461038 c.3005C>A p.A1002D missense 0.00000824●●●●●●
380. 112461021 c.3022G>C p.V1008L missense 0.00004120●●●●●●
381. 112461021 c.3022G>A p.V1008M missense 0.00000824●●●●●●
382. 112461018 c.3025A>C p.I1009L missense 0.00000824●●●●●●
383. 112461014 c.3029G>A p.S1010N missense 0.00000824●●●●●●
384. 112461010 c.3033G>T p.L1011F missense 0.00053564●●●●●●
385. 112461009 c.3034T>C p.Y1012H missense 0.00007416●●●●●●
386. 112461004 c.3039C>G p.N1013K missense 0.00001648●●●●●●
387. 112461002 c.3041T>A p.F1014Y missense 0.00000824●●●●●●
388. 112460990 c.3053A>G p.Y1018C missense 0.00000824●●●●●●
389. 112460982 c.3061G>A p.D1021N missense 0.00000824●●●●●●
390. 112460973 c.3070A>G p.T1024A missense 0.00000824●●●●●●
391. 112460954 c.3089G>A p.R1030Q missense 0.00014828●●●●●●
392. 112460954 c.3089G>C p.R1030P missense 0.00000824●●●●●●
393. 112460491 c.3092A>G p.D1031G missense 0.00000824●●●●●●
394. 112460489 c.3094A>C p.K1032Q missense 0.00000824●●●●●●
395. 112460485 c.3098T>G p.L1033R missense 0.00005769●●●●●●
396. 112460483 c.3100G>T p.A1034S missense 0.00000824●●●●●●
397. 112460467 c.3116G>A p.R1039Q missense 0.00000824●●●●●●
398. 112460465 c.3118G>A p.A1040T missense 0.00000824●●●●●●
399. 112460462 c.3121G>T p.A1041S missense 0.00000824●●●●●●
400. 112460443 c.3140G>A p.G1047D missense 0.00000824●●●●●●
401. 112460441 c.3142T>C p.S1048P missense 0.00001648●●●●●●
402. 112460438 c.3145G>A p.G1049S missense 0.00001647●●●●●●
403. 112460438 c.3145G>C p.G1049R missense 0.00000824●●●●●●
404. 112460429 c.3154G>A p.V1052M missense 0.00111201●●●●●●
405. 112460429 c.3154G>C p.V1052L missense 0.00000824●●●●●●
406. 112460417 c.3166A>G p.I1056V missense 0.00001647●●●●●●
407. 112460416 c.3167T>C p.I1056T missense 0.00000824●●●●●●
408. 112460413 c.3170C>A p.T1057K missense 0.00000824●●●●●●
409. 112460391 c.3192G>T p.Q1064H missense 0.00000824●●●●●●
410. 112460383 c.3200G>A p.R1067H missense 0.00001647●●●●●●
411. 112460365 c.3218G>A p.R1073Q missense 0.00999143●●●●●●
412. 112460359 c.3224C>T p.P1075L missense 0.00000824●●●●●●
413. 112460356 c.3227C>A p.A1076D missense 0.00000824●●●●●●
414. 112460348 c.3235G>A p.G1079S missense 0.00003295●●●●●●
415. 112460332 c.3251T>C p.M1084T missense 0.00000824●●●●●●
416. 112460330 c.3253G>A p.V1085I missense 0.00000824●●●●●●
417. 112460327 c.3256A>G p.N1086D missense 0.00001648●●●●●●
418. 112457455 c.3263G>T p.S1088I missense 0.00002477●●●●●●
419. 112457434 c.3284T>C p.M1095T missense 0.00000825●●●●●●
420. 112457432 c.3286C>T p.R1096C missense 0.00018985●●●●●●
421. 112457432 c.3286C>A p.R1096S missense 0.00001651●●●●●●
422. 112457431 c.3287G>A p.R1096H missense 0.00004953●●●●●●
423. 112457429 c.3289A>C p.N1097H missense 0.00000825●●●●●●
424. 112457428 c.3290A>G p.N1097S missense 0.00007428●●●●●●
425. 112457422 c.3296A>G p.Y1099C missense 0.00002476●●●●●●
426. 112457417 c.3301C>T p.H1101Y missense 0.00004126●●●●●●
427. 112457407 c.3311A>G p.Y1104C missense 0.00000825●●●●●●
428. 112457390 c.3328G>A p.G1110S missense 0.76914509●●●●●●
429. 112457383 c.3335C>G p.P1112R missense 0.22490261●●●●●●
430. 112457383 c.3335C>A p.P1112H missense 0.00001651●●●●●●
431. 112457380 c.3338T>C p.V1113A missense 0.00000825●●●●●●
432. 112457374 c.3344T>C p.L1115P missense 0.00000825●●●●●●
433. 112457365 c.3353C>T p.T1118M missense 0.00001650●●●●●●
434. 112457333 c.3385T>C p.Y1129H missense 0.00001651●●●●●●
435. 112455808 c.3397T>C p.S1133P missense 0.00000828●●●●●●
436. 112455796 c.3409C>T p.H1137Y missense 0.00000827●●●●●●
437. 112455790 c.3415G>A p.D1139N missense 0.00002480●●●●●●
438. 112455789 c.3416A>G p.D1139G missense 0.00006612●●●●●●
439. 112455759 c.3446G>A p.R1149K missense 0.00000826●●●●●●
440. 112455720 c.3485C>T p.P1162L missense 0.00001652●●●●●●
441. 112455714 c.3491C>G p.T1164R missense 0.00000826●●●●●●
442. 112455709 c.3496A>G p.I1166V missense 0.00000826●●●●●●
443. 112455708 c.3497T>C p.I1166T missense 0.00003304●●●●●●
444. 112455707 c.3498A>G p.I1166M missense 0.00000826●●●●●●
445. 112455688 c.3517C>T p.P1173S missense 0.00000826●●●●●●
446. 112455684 c.3521A>G p.E1174G missense 0.00001652●●●●●●
447. 112454688 c.3538G>A p.A1180T missense 0.00000824●●●●●●
448. 112454684 c.3542T>G p.L1181R missense 0.00001649●●●●●●
449. 112454673 c.3553C>T p.L1185F missense 0.00004946●●●●●●
450. 112454673 c.3553C>A p.L1185I missense 0.00000824●●●●●●
451. 112454670 c.3556C>A p.P1186T missense 0.00000824●●●●●●
452. 112454653 c.3573C>A p.F1191L missense 0.00003297●●●●●●
453. 112454643 c.3583A>G p.M1195V missense 0.00000824●●●●●●
454. 112454586 c.3640C>G p.L1214V missense 0.00008241●●●●●●
455. 112454583 c.3643G>A p.G1215R missense 0.00000824●●●●●●
456. 112454580 c.3646G>A p.V1216I missense 0.00000824●●●●●●
457. 112454092 c.3676A>G p.I1226V missense 0.00001652●●●●●●
458. 112454086 c.3682C>T p.R1228C missense 0.00000826●●●●●●
459. 112454085 c.3683G>A p.R1228H missense 0.00004956●●●●●●
460. 112454085 c.3683G>T p.R1228L missense 0.00000826●●●●●●
461. 112454083 c.3685A>G p.R1229G missense 0.00000826●●●●●●
462. 112454067 c.3701G>A p.G1234E missense 0.00001651●●●●●●
463. 112454052 c.3716C>T p.A1239V missense 0.00000826●●●●●●
464. 112454047 c.3721A>G p.I1241V missense 0.00014039●●●●●●
465. 112454041 c.3727A>G p.K1243E missense 0.00000826●●●●●●
466. 112454035 c.3733T>A p.S1245T missense 0.00000826●●●●●●
467. 112454025 c.3743A>G p.D1248G missense 0.00000827●●●●●●
468. 112453998 c.3770G>A p.R1257Q missense 0.00002486●●●●●●
469. 112453989 c.3779A>C p.Q1260P missense 0.00000829●●●●●●
470. 112453972 c.3796T>C p.F1266L missense 0.00005821●●●●●●
471. 112453970 c.3798C>A p.F1266L missense 0.00001664●●●●●●
472. 112453965 c.3803A>C p.Y1268S missense 0.00000834●●●●●●
473. 112453962 c.3806C>T p.A1269V missense 0.00000835●●●●●●
474. 112453956 c.3812G>T p.G1271V missense 0.00002513●●●●●●
475. 112452297 c.3820G>A p.V1274M missense 0.00000825●●●●●●
476. 112452288 c.3829A>G p.I1277V missense 0.00000825●●●●●●
477. 112452195 c.3922G>A p.V1308I missense 0.00117257●●●●●●
478. 112452192 c.3925A>G p.I1309V missense 0.00000826●●●●●●
479. 112452190 c.3927T>G p.I1309M missense 0.00003303●●●●●●
480. 112451237 c.3953A>C p.E1318A missense 0.00000827●●●●●●
481. 112451213 c.3977T>C p.V1326A missense 0.00000826●●●●●●
482. 112451211 c.3979G>A p.G1327R missense 0.00000827●●●●●●
483. 112451210 c.3980G>A p.G1327E missense 0.00000827●●●●●●
484. 112451203 c.3987G>C p.K1329N missense 0.00000827●●●●●●
485. 112451193 c.3997A>G p.K1333E missense 0.00000827●●●●●●
486. 112451192 c.3998A>C p.K1333T missense 0.00000827●●●●●●
487. 112451165 c.4025G>A p.S1342N missense 0.00000830●●●●●●
488. 112451163 c.4027G>A p.E1343K missense 0.00000831●●●●●●
489. 112451160 c.4030A>G p.K1344E missense 0.00000832●●●●●●
490. 112451154 c.4036T>A p.F1346I missense 0.00000835●●●●●●
491. 112451152 c.4038T>A p.F1346L missense 0.00001672●●●●●●
492. 112451150 c.4040A>G p.Y1347C missense 0.00000838●●●●●●
493. 112451123 c.4067A>G p.Q1356R missense 0.00015891●●●●●●
494. 112450276 c.4114G>A p.V1372M missense 0.00003311●●●●●●
495. 112450273 c.4117G>C p.D1373H missense 0.00000827●●●●●●
496. 112450257 c.4133T>C p.V1378A missense 0.00000826●●●●●●
497. 112450243 c.4147C>T p.R1383W missense 0.00001651●●●●●●
498. 112450242 c.4148G>T p.R1383L missense 0.00001651●●●●●●
499. 112450242 c.4148G>A p.R1383Q missense 0.00000826●●●●●●
500. 112450240 c.4150T>C p.Y1384H missense 0.00009908●●●●●●
501. 112450228 c.4162G>A p.V1388I missense 0.00002476●●●●●●
502. 112450216 c.4174C>T p.L1392F missense 0.00000826●●●●●●
503. 112450213 c.4177T>A p.Y1393N missense 0.00002477●●●●●●
504. 112450212 c.4178A>G p.Y1393C missense 0.00008256●●●●●●
505. 112450195 c.4195T>A p.S1399T missense 0.00000826●●●●●●
506. 112450188 c.4202C>T p.P1401L missense 0.00003303●●●●●●
507. 112450188 c.4202C>A p.P1401Q missense 0.00000826●●●●●●
508. 112450179 c.4211T>A p.L1404H missense 0.00000826●●●●●●
509. 112450176 c.4214T>C p.L1405P missense 0.00000826●●●●●●
510. 112450173 c.4217A>G p.H1406R missense 0.00000826●●●●●●
511. 112450164 c.4226G>A p.G1409E missense 0.00000826●●●●●●
512. 112450162 c.4228A>G p.K1410E missense 0.00000826●●●●●●
513. 112450157 c.4233T>A p.N1411K missense 0.00002479●●●●●●
514. 112450156 c.4234T>G p.L1412V missense 0.00003306●●●●●●
515. 112450153 c.4237T>C p.S1413P missense 0.00000826●●●●●●
516. 112450140 c.4250C>T p.A1417V missense 0.00000827●●●●●●
517. 112450137 c.4253G>A p.S1418N missense 0.00002482●●●●●●
518. 112443403 c.4268G>C p.G1423A missense 0.00000830●●●●●●
519. 112443400 c.4271G>A p.G1424E missense 0.00001659●●●●●●
520. 112443383 c.4288C>T p.P1430S missense 0.00001651●●●●●●
521. 112443383 c.4288C>A p.P1430T missense 0.00000826●●●●●●
522. 112443379 c.4292C>T p.S1431L missense 0.00000825●●●●●●
523. 112443371 c.4300C>T p.P1434S missense 0.00000825●●●●●●
524. 112443370 c.4301C>T p.P1434L missense 0.00001649●●●●●●
525. 112443364 c.4307C>T p.A1436V missense 0.00000825●●●●●●
526. 112443356 c.4315C>A p.L1439I missense 0.00000825●●●●●●
527. 112443347 c.4324C>T p.R1442W missense 0.00001649●●●●●●
528. 112443346 c.4325G>A p.R1442Q missense 0.00004123●●●●●●
529. 112443287 c.4384G>A p.A1462T missense 0.00007416●●●●●●
530. 112443286 c.4385C>G p.A1462G missense 0.00000824●●●●●●
531. 112443256 c.4415G>A p.R1472H missense 0.00009889●●●●●●
532. 112443246 c.4425T>G p.F1475L missense 0.00000824●●●●●●
533. 112443226 c.4445T>C p.F1482S missense 0.00000824●●●●●●
534. 112441669 c.4461G>T p.Q1487H missense 0.00000844●●●●●●
535. 112441659 c.4471C>T p.R1491C missense 0.00000836●●●●●●
536. 112441658 c.4472G>A p.R1491H missense 0.00010860●●●●●●
537. 112441646 c.4484G>A p.R1495H missense 0.00004153●●●●●●
538. 112441632 c.4498A>G p.M1500V missense 0.00000828●●●●●●
539. 112441623 c.4507T>C p.Y1503H missense 0.00000827●●●●●●
540. 112441622 c.4508A>T p.Y1503F missense 0.00000827●●●●●●
541. 112441601 c.4529A>G p.N1510S missense 0.00000826●●●●●●
542. 112441579 c.4551G>C p.L1517F missense 0.00001651●●●●●●
543. 112441572 c.4558G>A p.G1520S missense 0.00000826●●●●●●
544. 112441569 c.4561C>T p.R1521C missense 0.00003303●●●●●●
545. 112441568 c.4562G>A p.R1521H missense 0.00002477●●●●●●
546. 112441568 c.4562G>T p.R1521L missense 0.00001651●●●●●●
547. 112441563 c.4567G>A p.V1523I missense 0.00000825●●●●●●
548. 112441557 c.4573A>G p.M1525V missense 0.00000825●●●●●●
549. 112441552 c.4578T>A p.F1526L missense 0.00000825●●●●●●
550. 112441550 c.4580A>G p.N1527S missense 0.00000825●●●●●●
551. 112441535 c.4595A>T p.K1532I missense 0.00002477●●●●●●
552. 112441528 c.4602G>T p.K1534N missense 0.00000826●●●●●●
553. 112441506 c.4624A>T p.N1542Y missense 0.00010739●●●●●●
554. 112441505 c.4625A>G p.N1542S missense 0.00486560●●●●●●
555. 112441505 c.4625A>T p.N1542I missense 0.00000826●●●●●●
556. 112441502 c.4628A>G p.D1543G missense 0.00001652●●●●●●
557. 112441499 c.4631G>A p.G1544D missense 0.00003305●●●●●●
558. 112440511 c.4648A>G p.I1550V missense 0.00000826●●●●●●
559. 112440504 c.4655T>C p.I1552T missense 0.00002476●●●●●●
560. 112440501 c.4658G>A p.R1553Q missense 0.00003301●●●●●●
561. 112440501 c.4658G>C p.R1553P missense 0.00000825●●●●●●
562. 112440499 c.4660G>A p.E1554K missense 0.00000825●●●●●●
563. 112440489 c.4670G>T p.S1557I missense 0.00021440●●●●●●
564. 112440483 c.4676G>A p.R1559Q missense 0.00004122●●●●●●
565. 112440475 c.4684A>T p.I1562F missense 0.00000824●●●●●●
566. 112440474 c.4685T>C p.I1562T missense 0.00000824●●●●●●
567. 112440465 c.4694T>G p.L1565R missense 0.00004121●●●●●●
568. 112440462 c.4697G>A p.R1566Q missense 0.00008242●●●●●●
569. 112440456 c.4703T>C p.L1568P missense 0.00002472●●●●●●
570. 112440454 c.4705G>C p.E1569Q missense 0.00000824●●●●●●
571. 112440445 c.4714C>T p.L1572F missense 0.00000824●●●●●●
572. 112440438 c.4721C>G p.P1574R missense 0.00000824●●●●●●
573. 112440438 c.4721C>T p.P1574L missense 0.00000824●●●●●●
574. 112440411 c.4748G>A p.G1583D missense 0.00000824●●●●●●
575. 112440399 c.4760T>C p.L1587S missense 0.00000824●●●●●●
576. 112440394 c.4765G>A p.G1589S missense 0.00000824●●●●●●
577. 112440388 c.4771G>T p.A1591S missense 0.00017315●●●●●●
578. 112440387 c.4772C>G p.A1591G missense 0.00000825●●●●●●
579. 112440373 c.4786G>T p.V1596L missense 0.00000825●●●●●●
580. 112439096 c.4806C>G p.N1602K missense 0.00000826●●●●●●
581. 112439068 c.4834A>T p.S1612C missense 0.00000827●●●●●●
582. 112439067 c.4835G>T p.S1612I missense 0.00001653●●●●●●
583. 112439066 c.4836C>A p.S1612R missense 0.00001653●●●●●●
584. 112439053 c.4849A>C p.N1617H missense 0.00004129●●●●●●
585. 112439043 c.4859C>T p.S1620F missense 0.00002474●●●●●●
586. 112439040 c.4862T>G p.I1621S missense 0.00002474●●●●●●
587. 112439029 c.4873T>C p.S1625P missense 0.00000824●●●●●●
588. 112438996 c.4906G>A p.G1636S missense 0.00000824●●●●●●
589. 112438986 c.4916A>G p.E1639G missense 0.00000824●●●●●●
590. 112438977 c.4925C>A p.T1642N missense 0.00000824●●●●●●
591. 112438965 c.4937C>T p.T1646I missense 0.00000824●●●●●●
592. 112438959 c.4943G>A p.G1648E missense 0.00011536●●●●●●
593. 112438956 c.4946G>T p.G1649V missense 0.00004944●●●●●●
594. 112438951 c.4951G>A p.V1651M missense 0.00004120●●●●●●
595. 112438948 c.4954G>T p.V1652F missense 0.00000824●●●●●●
596. 112437194 c.4963G>C p.E1655Q missense 0.00000826●●●●●●
597. 112437190 c.4967C>T p.S1656F missense 0.00001651●●●●●●
598. 112437176 c.4981T>G p.L1661V missense 0.00002474●●●●●●
599. 112437173 c.4984A>G p.K1662E missense 0.00000825●●●●●●
600. 112437149 c.5008C>T p.R1670C missense 0.00043685●●●●●●
601. 112437148 c.5009G>A p.R1670H missense 0.00009890●●●●●●
602. 112437143 c.5014A>G p.R1672G missense 0.00001648●●●●●●
603. 112437131 c.5026G>A p.G1676R missense 0.00001648●●●●●●
604. 112437127 c.5030C>T p.T1677I missense 0.00000824●●●●●●
605. 112437116 c.5041G>A p.G1681S missense 0.00000824●●●●●●
606. 112437112 c.5045A>T p.H1682L missense 0.00000824●●●●●●
607. 112437085 c.5072T>C p.V1691A missense 0.00000824●●●●●●
608. 112435950 c.5101A>G p.K1701E missense 0.00000826●●●●●●
609. 112435938 c.5113G>A p.G1705S missense 0.00000825●●●●●●
610. 112435934 c.5117T>C p.I1706T missense 0.00001651●●●●●●
611. 112435914 c.5137G>A p.V1713I missense 0.00000825●●●●●●
612. 112435913 c.5138T>A p.V1713D missense 0.00000825●●●●●●
613. 112435905 c.5146A>G p.K1716E missense 0.00000825●●●●●●
614. 112435886 c.5165G>A p.G1722D missense 0.00001651●●●●●●
615. 112435398 c.5186T>C p.V1729A missense 0.00000826●●●●●●
616. 112435392 c.5192G>A p.R1731K missense 0.00000826●●●●●●
617. 112435374 c.5210A>G p.Q1737R missense 0.00000825●●●●●●
618. 112435361 c.5223C>A p.D1741E missense 0.00000825●●●●●●
619. 112435347 c.5237A>G p.H1746R missense 0.00002475●●●●●●
620. 112435338 c.5246G>A p.G1749E missense 0.00000825●●●●●●
621. 112435336 c.5248C>T p.P1750S missense 0.00000825●●●●●●
622. 112435335 c.5249C>T p.P1750L missense 0.00044536●●●●●●
623. 112435321 c.5263C>T p.P1755S missense 0.00001649●●●●●●
624. 112435303 c.5281C>A p.P1761T missense 0.00001649●●●●●●
625. 112435296 c.5288T>G p.F1763C missense 0.00000825●●●●●●
626. 112435287 c.5297G>A p.G1766D missense 0.00001649●●●●●●
627. 112435279 c.5305G>A p.E1769K missense 0.00004123●●●●●●
628. 112430771 c.5320C>T p.P1774S missense 0.00001649●●●●●●
629. 112430768 c.5323C>T p.R1775C missense 0.00019793●●●●●●
630. 112430768 c.5323C>G p.R1775G missense 0.00000825●●●●●●
631. 112430767 c.5324G>A p.R1775H missense 0.00004123●●●●●●
632. 112430767 c.5324G>C p.R1775P missense 0.00000825●●●●●●
633. 112430758 c.5333C>A p.P1778H missense 0.00000825●●●●●●
634. 112430735 c.5356A>G p.I1786V missense 0.00001649●●●●●●
635. 112430732 c.5359C>T p.R1787C missense 0.00000825●●●●●●
636. 112430731 c.5360G>A p.R1787H missense 0.00000825●●●●●●
637. 112430729 c.5362C>T p.H1788Y missense 0.00000825●●●●●●
638. 112430719 c.5372T>C p.I1791T missense 0.00002475●●●●●●
639. 112430714 c.5377G>A p.G1793R missense 0.00000825●●●●●●
640. 112430709 c.5382C>G p.H1794Q missense 0.00000825●●●●●●
641. 112430687 c.5404G>A p.A1802T missense 0.00000825●●●●●●
642. 112430675 c.5416G>A p.G1806S missense 0.00003304●●●●●●
643. 112430669 c.5422G>A p.V1808I missense 0.00522271●●●●●●
644. 112430669 c.5422G>T p.V1808L missense 0.00000826●●●●●●
645. 112430664 c.5427C>A p.S1809R missense 0.00000826●●●●●●
646. 112430663 c.5428A>G p.I1810V missense 0.00000826●●●●●●
647. 112430662 c.5429T>C p.I1810T missense 0.00063644●●●●●●
648. 112430660 c.5431A>G p.N1811D missense 0.00000827●●●●●●
649. 112430659 c.5432A>G p.N1811S missense 0.00000827●●●●●●
650. 112430654 c.5437T>C p.C1813R missense 0.00000827●●●●●●
651. 112430653 c.5438G>A p.C1813Y missense 0.00000827●●●●●●

* This highlights the relative frequency of the variant in the ExAC populations - Non-Finnish European, African, East Asian, South Asian, American and Finnish. Higher frequencies are denoted by darker shades of green, variants absent in a population are coloured light gray.

✝ Genomic coordinates refer to the GRCh37 release of the human genome.