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. 112508770 c.827C>A p.A276E missense 0.99999176●●●●●●
2. 112457390 c.3328G>A p.G1110S missense 0.76914509●●●●●●
3. 112493872 c.1471T>C p.Y491H missense 0.66491939●●●●●●
4. 112457383 c.3335C>G p.P1112R missense 0.22490261●●●●●●
5. 112522852 c.460C>T p.R154W missense 0.05307488●●●●●●
6. 112460365 c.3218G>A p.R1073Q missense 0.00999143●●●●●●
7. 112537586 c.280G>A p.G94S missense 0.00555601●●●●●●
8. 112430669 c.5422G>A p.V1808I missense 0.00522271●●●●●●
9. 112441505 c.4625A>G p.N1542S missense 0.00486560●●●●●●
10. 112493889 c.1454T>A p.L485H missense 0.00276093●●●●●●
11. 112486397 c.1612C>T p.R538C missense 0.00161471●●●●●●
12. 112575268 c.85G>C p.D29H missense 0.00157228●●●●●●
13. 112512915 c.641G>A p.R214H missense 0.00133093●●●●●●
14. 112462563 c.2789A>G p.E930G missense 0.00119434●●●●●●
15. 112452195 c.3922G>A p.V1308I missense 0.00117257●●●●●●
16. 112476110 c.1978G>T p.D660Y missense 0.00114537●●●●●●
17. 112460429 c.3154G>A p.V1052M missense 0.00111201●●●●●●
18. 112471715 c.2150G>A p.R717K missense 0.00083192●●●●●●
19. 112476121 c.1967T>C p.I656T missense 0.00071702●●●●●●
20. 112430662 c.5429T>C p.I1810T missense 0.00063644●●●●●●
21. 112508755 c.842C>G p.A281G missense 0.00063501●●●●●●
22. 112461010 c.3033G>T p.L1011F missense 0.00053564●●●●●●
23. 112463374 c.2593C>G p.P865A missense 0.00048604●●●●●●
24. 112528271 c.373G>T p.A125S missense 0.00047872●●●●●●
25. 112435335 c.5249C>T p.P1750L missense 0.00044536●●●●●●
26. 112512882 c.674C>T p.A225V missense 0.00043967●●●●●●
27. 112437149 c.5008C>T p.R1670C missense 0.00043685●●●●●●
28. 112508794 c.803A>G p.K268R missense 0.00032926●●●●●●
29. 112575186 c.167C>T p.A56V missense 0.00023906●●●●●●
30. 112461988 c.2929G>A p.V977I missense 0.00023161●●●●●●
31. 112513042 c.514G>A p.G172S missense 0.00022479●●●●●●
32. 112471740 c.2125G>A p.V709I missense 0.00022239●●●●●●
33. 112575268 c.85G>A p.D29N missense 0.00021637●●●●●●
34. 112440489 c.4670G>T p.S1557I missense 0.00021440●●●●●●
35. 112479974 c.1756C>T p.H586Y missense 0.00021431●●●●●●
36. 112430768 c.5323C>T p.R1775C missense 0.00019793●●●●●●
37. 112457432 c.3286C>T p.R1096C missense 0.00018985●●●●●●
38. 112512888 c.668G>A p.R223H missense 0.00018235●●●●●●
39. 112440388 c.4771G>T p.A1591S missense 0.00017315●●●●●●
40. 112510396 c.730G>C p.G244R missense 0.00016580●●●●●●
41. 112528337 c.307C>T p.R103W missense 0.00016500●●●●●●
42. 112451123 c.4067A>G p.Q1356R missense 0.00015891●●●●●●
43. 112575231 c.122C>T p.A41V missense 0.00015442●●●●●●
44. 112460954 c.3089G>A p.R1030Q missense 0.00014828●●●●●●
45. 112454047 c.3721A>G p.I1241V missense 0.00014039●●●●●●
46. 112508717 c.880G>A p.V294I missense 0.00013187●●●●●●
47. 112486369 c.1640T>C p.I547T missense 0.00013181●●●●●●
48. 112438959 c.4943G>A p.G1648E missense 0.00011536●●●●●●
49. 112441658 c.4472G>A p.R1491H missense 0.00010860●●●●●●
50. 112441506 c.4624A>T p.N1542Y missense 0.00010739●●●●●●
51. 112450240 c.4150T>C p.Y1384H missense 0.00009908●●●●●●
52. 112462026 c.2891C>T p.S964F missense 0.00009900●●●●●●
53. 112437148 c.5009G>A p.R1670H missense 0.00009890●●●●●●
54. 112443256 c.4415G>A p.R1472H missense 0.00009889●●●●●●
55. 112506519 c.976G>A p.A326T missense 0.00009885●●●●●●
56. 112486426 c.1583G>A p.S528N missense 0.00009062●●●●●●
57. 112496595 c.1256T>C p.M419T missense 0.00009060●●●●●●
58. 112575286 c.67C>T p.R23C missense 0.00008823●●●●●●
59. 112575246 c.107T>C p.I36T missense 0.00008804●●●●●●
60. 112466091 c.2377C>T p.R793C missense 0.00008269●●●●●●
61. 112528252 c.392C>T p.P131L missense 0.00008257●●●●●●
62. 112450212 c.4178A>G p.Y1393C missense 0.00008256●●●●●●
63. 112493944 c.1399G>A p.V467I missense 0.00008254●●●●●●
64. 112440462 c.4697G>A p.R1566Q missense 0.00008242●●●●●●
65. 112454586 c.3640C>G p.L1214V missense 0.00008241●●●●●●
66. 112457428 c.3290A>G p.N1097S missense 0.00007428●●●●●●
67. 112508719 c.878G>A p.S293N missense 0.00007417●●●●●●
68. 112443287 c.4384G>A p.A1462T missense 0.00007416●●●●●●
69. 112461009 c.3034T>C p.Y1012H missense 0.00007416●●●●●●
70. 112463419 c.2548G>A p.A850T missense 0.00007415●●●●●●
71. 112575241 c.112G>A p.G38R missense 0.00007314●●●●●●
72. 112480078 c.1652C>T p.A551V missense 0.00006988●●●●●●
73. 112512883 c.673G>C p.A225P missense 0.00006636●●●●●●
74. 112455789 c.3416A>G p.D1139G missense 0.00006612●●●●●●
75. 112508744 c.853G>A p.E285K missense 0.00006595●●●●●●
76. 112463376 c.2591G>A p.R864Q missense 0.00006591●●●●●●
77. 112522809 c.503G>A p.R168K missense 0.00006591●●●●●●
78. 112463368 c.2599C>G p.L867V missense 0.00006591●●●●●●
79. 112463377 c.2590C>T p.R864W missense 0.00006590●●●●●●
80. 112496574 c.1277G>A p.R426H missense 0.00006589●●●●●●
81. 112575190 c.163G>T p.V55L missense 0.00006076●●●●●●
82. 112513035 c.521A>G p.Y174C missense 0.00005971●●●●●●
83. 112453972 c.3796T>C p.F1266L missense 0.00005821●●●●●●
84. 112512978 c.578C>T p.S193L missense 0.00005801●●●●●●
85. 112537612 c.254A>G p.N85S missense 0.00005770●●●●●●
86. 112460485 c.3098T>G p.L1033R missense 0.00005769●●●●●●
87. 112508690 c.907C>G p.H303D missense 0.00005768●●●●●●
88. 112486463 c.1546G>T p.V516L missense 0.00005767●●●●●●
89. 112575165 c.188C>T p.A63V missense 0.00005520●●●●●●
90. 112508789 c.808G>A p.V270I missense 0.00005141●●●●●●
91. 112454085 c.3683G>A p.R1228H missense 0.00004956●●●●●●
92. 112457431 c.3287G>A p.R1096H missense 0.00004953●●●●●●
93. 112528274 c.370G>C p.G124R missense 0.00004952●●●●●●
94. 112528337 c.307C>G p.R103G missense 0.00004950●●●●●●
95. 112469523 c.2168G>A p.R723H missense 0.00004948●●●●●●
96. 112454673 c.3553C>T p.L1185F missense 0.00004946●●●●●●
97. 112493823 c.1520G>A p.R507Q missense 0.00004946●●●●●●
98. 112438956 c.4946G>T p.G1649V missense 0.00004944●●●●●●
99. 112476868 c.1837G>A p.A613T missense 0.00004943●●●●●●
100. 112463389 c.2578C>A p.P860T missense 0.00004943●●●●●●
101. 112496560 c.1291A>G p.T431A missense 0.00004942●●●●●●
102. 112493979 c.1364G>A p.R455Q missense 0.00004155●●●●●●
103. 112493974 c.1369C>G p.H457D missense 0.00004154●●●●●●
104. 112441646 c.4484G>A p.R1495H missense 0.00004153●●●●●●
105. 112439053 c.4849A>C p.N1617H missense 0.00004129●●●●●●
106. 112528289 c.355G>A p.G119R missense 0.00004126●●●●●●
107. 112457417 c.3301C>T p.H1101Y missense 0.00004126●●●●●●
108. 112430767 c.5324G>A p.R1775H missense 0.00004123●●●●●●
109. 112435279 c.5305G>A p.E1769K missense 0.00004123●●●●●●
110. 112443346 c.4325G>A p.R1442Q missense 0.00004123●●●●●●
111. 112440483 c.4676G>A p.R1559Q missense 0.00004122●●●●●●
112. 112440465 c.4694T>G p.L1565R missense 0.00004121●●●●●●
113. 112493842 c.1501G>A p.A501T missense 0.00004120●●●●●●
114. 112438951 c.4951G>A p.V1651M missense 0.00004120●●●●●●
115. 112461021 c.3022G>C p.V1008L missense 0.00004120●●●●●●
116. 112476883 c.1822G>A p.G608R missense 0.00004120●●●●●●
117. 112506459 c.1036G>A p.V346I missense 0.00004119●●●●●●
118. 112575248 c.105C>G p.D35E missense 0.00003497●●●●●●
119. 112575162 c.191C>T p.A64V missense 0.00003391●●●●●●
120. 112512984 c.572G>A p.G191E missense 0.00003318●●●●●●
121. 112450276 c.4114G>A p.V1372M missense 0.00003311●●●●●●
122. 112450156 c.4234T>G p.L1412V missense 0.00003306●●●●●●
123. 112466087 c.2381C>T p.T794M missense 0.00003306●●●●●●
124. 112512916 c.640C>T p.R214C missense 0.00003306●●●●●●
125. 112512925 c.631A>C p.N211H missense 0.00003306●●●●●●
126. 112441499 c.4631G>A p.G1544D missense 0.00003305●●●●●●
127. 112493953 c.1390T>C p.F464L missense 0.00003304●●●●●●
128. 112430675 c.5416G>A p.G1806S missense 0.00003304●●●●●●
129. 112455708 c.3497T>C p.I1166T missense 0.00003304●●●●●●
130. 112450188 c.4202C>T p.P1401L missense 0.00003303●●●●●●
131. 112452190 c.3927T>G p.I1309M missense 0.00003303●●●●●●
132. 112441569 c.4561C>T p.R1521C missense 0.00003303●●●●●●
133. 112440501 c.4658G>A p.R1553Q missense 0.00003301●●●●●●
134. 112528301 c.343G>C p.D115H missense 0.00003300●●●●●●
135. 112466040 c.2428A>T p.R810W missense 0.00003298●●●●●●
136. 112469497 c.2194G>A p.E732K missense 0.00003298●●●●●●
137. 112469487 c.2204A>G p.N735S missense 0.00003297●●●●●●
138. 112479973 c.1757A>G p.H586R missense 0.00003297●●●●●●
139. 112499371 c.1120G>A p.A374T missense 0.00003297●●●●●●
140. 112454653 c.3573C>A p.F1191L missense 0.00003297●●●●●●
141. 112493861 c.1482T>A p.D494E missense 0.00003296●●●●●●
142. 112476055 c.2033C>T p.S678F missense 0.00003296●●●●●●
143. 112476094 c.1994T>C p.L665P missense 0.00003296●●●●●●
144. 112486396 c.1613G>A p.R538H missense 0.00003295●●●●●●
145. 112463362 c.2605G>A p.E869K missense 0.00003295●●●●●●
146. 112496554 c.1297C>T p.R433W missense 0.00003295●●●●●●
147. 112496597 c.1254G>T p.K418N missense 0.00003295●●●●●●
148. 112463385 c.2582C>G p.P861R missense 0.00003295●●●●●●
149. 112462603 c.2749G>A p.V917I missense 0.00003295●●●●●●
150. 112460348 c.3235G>A p.G1079S missense 0.00003295●●●●●●
151. 112575331 c.22C>T p.R8C missense 0.00002797●●●●●●
152. 112453956 c.3812G>T p.G1271V missense 0.00002513●●●●●●
153. 112513009 c.547A>G p.T183A missense 0.00002502●●●●●●
154. 112512883 c.673G>A p.A225T missense 0.00002488●●●●●●
155. 112453998 c.3770G>A p.R1257Q missense 0.00002486●●●●●●
156. 112493962 c.1381C>T p.R461C missense 0.00002482●●●●●●
157. 112450137 c.4253G>A p.S1418N missense 0.00002482●●●●●●
158. 112510336 c.790A>G p.T264A missense 0.00002481●●●●●●
159. 112455790 c.3415G>A p.D1139N missense 0.00002480●●●●●●
160. 112450157 c.4233T>A p.N1411K missense 0.00002479●●●●●●
161. 112510369 c.757G>A p.G253R missense 0.00002477●●●●●●
162. 112441568 c.4562G>A p.R1521H missense 0.00002477●●●●●●
163. 112457455 c.3263G>T p.S1088I missense 0.00002477●●●●●●
164. 112450213 c.4177T>A p.Y1393N missense 0.00002477●●●●●●
165. 112441535 c.4595A>T p.K1532I missense 0.00002477●●●●●●
166. 112450228 c.4162G>A p.V1388I missense 0.00002476●●●●●●
167. 112440504 c.4655T>C p.I1552T missense 0.00002476●●●●●●
168. 112528275 c.369G>T p.R123S missense 0.00002476●●●●●●
169. 112457422 c.3296A>G p.Y1099C missense 0.00002476●●●●●●
170. 112537651 c.215T>C p.F72S missense 0.00002476●●●●●●
171. 112537645 c.221C>A p.T74N missense 0.00002475●●●●●●
172. 112435347 c.5237A>G p.H1746R missense 0.00002475●●●●●●
173. 112430719 c.5372T>C p.I1791T missense 0.00002475●●●●●●
174. 112462098 c.2819T>C p.L940S missense 0.00002474●●●●●●
175. 112437176 c.4981T>G p.L1661V missense 0.00002474●●●●●●
176. 112463323 c.2644A>C p.N882H missense 0.00002474●●●●●●
177. 112439040 c.4862T>G p.I1621S missense 0.00002474●●●●●●
178. 112439043 c.4859C>T p.S1620F missense 0.00002474●●●●●●
179. 112462089 c.2828C>T p.P943L missense 0.00002474●●●●●●
180. 112479963 c.1767C>A p.D589E missense 0.00002473●●●●●●
181. 112479980 c.1750A>G p.I584V missense 0.00002473●●●●●●
182. 112479938 c.1792A>G p.S598G missense 0.00002473●●●●●●
183. 112476777 c.1928G>A p.R643Q missense 0.00002472●●●●●●
184. 112486379 c.1630C>T p.L544F missense 0.00002472●●●●●●
185. 112476891 c.1814A>T p.D605V missense 0.00002472●●●●●●
186. 112440456 c.4703T>C p.L1568P missense 0.00002472●●●●●●
187. 112476852 c.1853A>G p.N618S missense 0.00002472●●●●●●
188. 112476853 c.1852A>G p.N618D missense 0.00002472●●●●●●
189. 112469404 c.2287G>T p.D763Y missense 0.00002472●●●●●●
190. 112508708 c.889G>A p.G297R missense 0.00002472●●●●●●
191. 112476889 c.1816A>G p.M606V missense 0.00002472●●●●●●
192. 112463393 c.2574G>T p.M858I missense 0.00002471●●●●●●
193. 112471745 c.2120A>G p.D707G missense 0.00002471●●●●●●
194. 112471796 c.2069G>A p.R690H missense 0.00002471●●●●●●
195. 112575200 c.153C>A p.S51R missense 0.00002045●●●●●●
196. 112575193 c.160C>T p.R54C missense 0.00002023●●●●●●
197. 112575181 c.172G>A p.G58R missense 0.00001950●●●●●●
198. 112575313 c.40T>C p.W14R missense 0.00001916●●●●●●
199. 112494000 c.1343G>T p.S448I missense 0.00001698●●●●●●
200. 112513026 c.530C>G p.P177R missense 0.00001683●●●●●●
201. 112451152 c.4038T>A p.F1346L missense 0.00001672●●●●●●
202. 112512862 c.694G>T p.A232S missense 0.00001667●●●●●●
203. 112512862 c.694G>A p.A232T missense 0.00001667●●●●●●
204. 112453970 c.3798C>A p.F1266L missense 0.00001664●●●●●●
205. 112512870 c.686A>C p.Y229S missense 0.00001662●●●●●●
206. 112443400 c.4271G>A p.G1424E missense 0.00001659●●●●●●
207. 112537664 c.202A>G p.N68D missense 0.00001657●●●●●●
208. 112512904 c.652G>A p.G218R missense 0.00001656●●●●●●
209. 112537663 c.203A>G p.N68S missense 0.00001655●●●●●●
210. 112512951 c.605G>A p.C202Y missense 0.00001654●●●●●●
211. 112528225 c.419C>T p.A140V missense 0.00001654●●●●●●
212. 112461987 c.2930T>C p.V977A missense 0.00001654●●●●●●
213. 112510389 c.737G>C p.G246A missense 0.00001654●●●●●●
214. 112510389 c.737G>A p.G246D missense 0.00001654●●●●●●
215. 112439067 c.4835G>T p.S1612I missense 0.00001653●●●●●●
216. 112439066 c.4836C>A p.S1612R missense 0.00001653●●●●●●
217. 112466090 c.2378G>A p.R793H missense 0.00001653●●●●●●
218. 112441502 c.4628A>G p.D1543G missense 0.00001652●●●●●●
219. 112455684 c.3521A>G p.E1174G missense 0.00001652●●●●●●
220. 112455720 c.3485C>T p.P1162L missense 0.00001652●●●●●●
221. 112454092 c.3676A>G p.I1226V missense 0.00001652●●●●●●
222. 112537655 c.211T>A p.F71I missense 0.00001652●●●●●●
223. 112454067 c.3701G>A p.G1234E missense 0.00001651●●●●●●
224. 112457383 c.3335C>A p.P1112H missense 0.00001651●●●●●●
225. 112441579 c.4551G>C p.L1517F missense 0.00001651●●●●●●
226. 112450243 c.4147C>T p.R1383W missense 0.00001651●●●●●●
227. 112437190 c.4967C>T p.S1656F missense 0.00001651●●●●●●
228. 112493941 c.1402C>G p.L468V missense 0.00001651●●●●●●
229. 112441568 c.4562G>T p.R1521L missense 0.00001651●●●●●●
230. 112435886 c.5165G>A p.G1722D missense 0.00001651●●●●●●
231. 112457333 c.3385T>C p.Y1129H missense 0.00001651●●●●●●
232. 112450242 c.4148G>T p.R1383L missense 0.00001651●●●●●●
233. 112435934 c.5117T>C p.I1706T missense 0.00001651●●●●●●
234. 112443383 c.4288C>T p.P1430S missense 0.00001651●●●●●●
235. 112457432 c.3286C>A p.R1096S missense 0.00001651●●●●●●
236. 112462038 c.2879C>T p.S960L missense 0.00001650●●●●●●
237. 112508765 c.832C>T p.R278W missense 0.00001650●●●●●●
238. 112462106 c.2811G>T p.K937N missense 0.00001650●●●●●●
239. 112457365 c.3353C>T p.T1118M missense 0.00001650●●●●●●
240. 112430771 c.5320C>T p.P1774S missense 0.00001649●●●●●●
241. 112466039 c.2429G>T p.R810M missense 0.00001649●●●●●●
242. 112443370 c.4301C>T p.P1434L missense 0.00001649●●●●●●
243. 112435303 c.5281C>A p.P1761T missense 0.00001649●●●●●●
244. 112499346 c.1145A>G p.H382R missense 0.00001649●●●●●●
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491. 112493905 c.1438G>C p.D480H missense 0.00000824●●●●●●
492. 112471718 c.2147A>G p.E716G missense 0.00000824●●●●●●
493. 112476842 c.1863A>C p.E621D missense 0.00000824●●●●●●
494. 112486432 c.1577C>T p.S526F missense 0.00000824●●●●●●
495. 112443226 c.4445T>C p.F1482S missense 0.00000824●●●●●●
496. 112486417 c.1592C>T p.A531V missense 0.00000824●●●●●●
497. 112471788 c.2077G>A p.G693R missense 0.00000824●●●●●●
498. 112462611 c.2741C>A p.S914Y missense 0.00000824●●●●●●
499. 112460491 c.3092A>G p.D1031G missense 0.00000824●●●●●●
500. 112499364 c.1127A>G p.Q376R missense 0.00000824●●●●●●
501. 112440454 c.4705G>C p.E1569Q missense 0.00000824●●●●●●
502. 112462080 c.2837G>A p.S946N missense 0.00000824●●●●●●
503. 112440445 c.4714C>T p.L1572F missense 0.00000824●●●●●●
504. 112440475 c.4684A>T p.I1562F missense 0.00000824●●●●●●
505. 112496559 c.1292C>G p.T431S missense 0.00000824●●●●●●
506. 112476837 c.1868T>C p.I623T missense 0.00000824●●●●●●
507. 112460982 c.3061G>A p.D1021N missense 0.00000824●●●●●●
508. 112508750 c.847T>C p.S283P missense 0.00000824●●●●●●
509. 112496596 c.1255A>T p.M419L missense 0.00000824●●●●●●
510. 112438996 c.4906G>A p.G1636S missense 0.00000824●●●●●●
511. 112460438 c.3145G>C p.G1049R missense 0.00000824●●●●●●
512. 112443246 c.4425T>G p.F1475L missense 0.00000824●●●●●●
513. 112437116 c.5041G>A p.G1681S missense 0.00000824●●●●●●
514. 112496521 c.1330T>A p.Y444N missense 0.00000824●●●●●●
515. 112506537 c.958G>A p.E320K missense 0.00000824●●●●●●
516. 112476115 c.1973A>C p.H658P missense 0.00000824●●●●●●
517. 112463445 c.2522C>T p.S841L missense 0.00000824●●●●●●
518. 112461038 c.3005C>A p.A1002D missense 0.00000824●●●●●●
519. 112506518 c.977C>T p.A326V missense 0.00000824●●●●●●
520. 112522857 c.455C>T p.A152V missense 0.00000824●●●●●●
521. 112506494 c.1001A>G p.N334S missense 0.00000824●●●●●●
522. 112486457 c.1552G>A p.E518K missense 0.00000824●●●●●●
523. 112476061 c.2027C>A p.A676E missense 0.00000824●●●●●●
524. 112461002 c.3041T>A p.F1014Y missense 0.00000824●●●●●●
525. 112471799 c.2066G>C p.R689T missense 0.00000824●●●●●●
526. 112471716 c.2149A>G p.R717G missense 0.00000824●●●●●●
527. 112471797 c.2068C>T p.R690C missense 0.00000824●●●●●●
528. 112469441 c.2250C>G p.N750K missense 0.00000824●●●●●●
529. 112454673 c.3553C>A p.L1185I missense 0.00000824●●●●●●
530. 112454643 c.3583A>G p.M1195V missense 0.00000824●●●●●●
531. 112440399 c.4760T>C p.L1587S missense 0.00000824●●●●●●
532. 112496659 c.1192T>C p.Y398H missense 0.00000824●●●●●●
533. 112469461 c.2230G>A p.A744T missense 0.00000824●●●●●●
534. 112438986 c.4916A>G p.E1639G missense 0.00000824●●●●●●
535. 112508705 c.892G>A p.A298T missense 0.00000824●●●●●●
536. 112476826 c.1879G>A p.V627I missense 0.00000824●●●●●●
537. 112460489 c.3094A>C p.K1032Q missense 0.00000824●●●●●●
538. 112537598 c.268G>A p.E90K missense 0.00000824●●●●●●
539. 112476094 c.1994T>G p.L665R missense 0.00000824●●●●●●
540. 112471752 c.2113C>T p.L705F missense 0.00000824●●●●●●
541. 112493835 c.1508C>T p.A503V missense 0.00000824●●●●●●
542. 112476082 c.2006C>A p.A669D missense 0.00000824●●●●●●
543. 112460416 c.3167T>C p.I1056T missense 0.00000824●●●●●●
544. 112506530 c.965A>G p.E322G missense 0.00000824●●●●●●
545. 112462620 c.2732C>T p.P911L missense 0.00000824●●●●●●
546. 112506479 c.1016T>C p.M339T missense 0.00000824●●●●●●
547. 112486445 c.1564G>A p.V522M missense 0.00000824●●●●●●
548. 112471790 c.2075G>A p.G692D missense 0.00000824●●●●●●
549. 112499372 c.1119C>A p.H373Q missense 0.00000824●●●●●●
550. 112499354 c.1137G>T p.E379D missense 0.00000824●●●●●●
551. 112462093 c.2824G>C p.V942L missense 0.00000824●●●●●●
552. 112439029 c.4873T>C p.S1625P missense 0.00000824●●●●●●
553. 112469379 c.2312T>C p.V771A missense 0.00000824●●●●●●
554. 112461021 c.3022G>A p.V1008M missense 0.00000824●●●●●●
555. 112508750 c.847T>G p.S283A missense 0.00000824●●●●●●
556. 112460465 c.3118G>A p.A1040T missense 0.00000824●●●●●●
557. 112463428 c.2539G>A p.D847N missense 0.00000824●●●●●●
558. 112508692 c.905G>A p.R302K missense 0.00000824●●●●●●
559. 112443286 c.4385C>G p.A1462G missense 0.00000824●●●●●●
560. 112496545 c.1306G>A p.V436M missense 0.00000824●●●●●●
561. 112476892 c.1813G>A p.D605N missense 0.00000824●●●●●●
562. 112508671 c.926C>T p.A309V missense 0.00000824●●●●●●
563. 112476142 c.1946G>A p.S649N missense 0.00000824●●●●●●
564. 112463474 c.2493T>G p.F831L missense 0.00000824●●●●●●
565. 112506498 c.997A>C p.N333H missense 0.00000824●●●●●●
566. 112486469 c.1540G>C p.E514Q missense 0.00000824●●●●●●
567. 112476062 c.2026G>C p.A676P missense 0.00000824●●●●●●
568. 112469410 c.2281C>T p.H761Y missense 0.00000824●●●●●●
569. 112460330 c.3253G>A p.V1085I missense 0.00000824●●●●●●
570. 112460990 c.3053A>G p.Y1018C missense 0.00000824●●●●●●
571. 112486399 c.1610C>G p.P537R missense 0.00000824●●●●●●
572. 112462596 c.2756C>T p.S919F missense 0.00000824●●●●●●
573. 112506451 c.1044A>T p.E348D missense 0.00000824●●●●●●
574. 112469446 c.2245G>C p.A749P missense 0.00000824●●●●●●
575. 112440411 c.4748G>A p.G1583D missense 0.00000824●●●●●●
576. 112469481 c.2210C>T p.T737M missense 0.00000824●●●●●●
577. 112496661 c.1190A>G p.Y397C missense 0.00000824●●●●●●
578. 112479982 c.1748C>G p.A583G missense 0.00000824●●●●●●
579. 112469481 c.2210C>A p.T737K missense 0.00000824●●●●●●
580. 112537600 c.266A>G p.N89S missense 0.00000824●●●●●●
581. 112508745 c.852C>G p.I284M missense 0.00000824●●●●●●
582. 112438965 c.4937C>T p.T1646I missense 0.00000824●●●●●●
583. 112537579 c.287G>A p.G96E missense 0.00000824●●●●●●
584. 112496517 c.1334A>G p.E445G missense 0.00000824●●●●●●
585. 112476828 c.1877A>G p.Y626C missense 0.00000824●●●●●●
586. 112476787 c.1918A>G p.T640A missense 0.00000824●●●●●●
587. 112460954 c.3089G>C p.R1030P missense 0.00000824●●●●●●
588. 112437085 c.5072T>C p.V1691A missense 0.00000824●●●●●●
589. 112506534 c.961A>G p.R321G missense 0.00000824●●●●●●
590. 112476107 c.1981G>A p.E661K missense 0.00000824●●●●●●
591. 112476083 c.2005G>T p.A669S missense 0.00000824●●●●●●
592. 112471779 c.2086G>A p.A696T missense 0.00000824●●●●●●
593. 112460356 c.3227C>A p.A1076D missense 0.00000824●●●●●●
594. 112486432 c.1577C>A p.S526Y missense 0.00000824●●●●●●
595. 112462638 c.2714C>T p.T905I missense 0.00000824●●●●●●
596. 112522837 c.475G>A p.E159K missense 0.00000824●●●●●●
597. 112506482 c.1013C>A p.T338K missense 0.00000824●●●●●●
598. 112486448 c.1561G>A p.E521K missense 0.00000824●●●●●●
599. 112440438 c.4721C>G p.P1574R missense 0.00000824●●●●●●
600. 112499379 c.1112T>C p.I371T missense 0.00000824●●●●●●
601. 112508770 c.827C>G p.A276G missense 0.00000824●●●●●●
602. 112496630 c.1221G>T p.K407N missense 0.00000824●●●●●●
603. 112469426 c.2265G>T p.W755C missense 0.00000824●●●●●●
604. 112461045 c.2998G>C p.E1000Q missense 0.00000824●●●●●●
605. 112461014 c.3029G>A p.S1010N missense 0.00000824●●●●●●
606. 112454580 c.3646G>A p.V1216I missense 0.00000824●●●●●●
607. 112479972 c.1758T>G p.H586Q missense 0.00000824●●●●●●
608. 112460467 c.3116G>A p.R1039Q missense 0.00000824●●●●●●
609. 112460443 c.3140G>A p.G1047D missense 0.00000824●●●●●●
610. 112460332 c.3251T>C p.M1084T missense 0.00000824●●●●●●
611. 112506519 c.976G>T p.A326S missense 0.00000824●●●●●●
612. 112493857 c.1486G>A p.E496K missense 0.00000824●●●●●●
613. 112469512 c.2179T>C p.S727P missense 0.00000824●●●●●●
614. 112506498 c.997A>G p.N333D missense 0.00000824●●●●●●
615. 112493820 c.1523A>T p.D508V missense 0.00000824●●●●●●
616. 112463374 c.2593C>T p.P865S missense 0.00000824●●●●●●
617. 112460391 c.3192G>T p.Q1064H missense 0.00000824●●●●●●
618. 112506454 c.1041G>C p.E347D missense 0.00000824●●●●●●
619. 112461018 c.3025A>C p.I1009L missense 0.00000824●●●●●●
620. 112486412 c.1597T>C p.S533P missense 0.00000824●●●●●●
621. 112471749 c.2116A>G p.S706G missense 0.00000824●●●●●●
622. 112499341 c.1150A>G p.M384V missense 0.00000824●●●●●●
623. 112479988 c.1742A>G p.Q581R missense 0.00000824●●●●●●
624. 112440394 c.4765G>A p.G1589S missense 0.00000824●●●●●●
625. 112469446 c.2245G>A p.A749T missense 0.00000824●●●●●●
626. 112454688 c.3538G>A p.A1180T missense 0.00000824●●●●●●
627. 112440474 c.4685T>C p.I1562T missense 0.00000824●●●●●●
628. 112499363 c.1128G>C p.Q376H missense 0.00000824●●●●●●
629. 112440438 c.4721C>T p.P1574L missense 0.00000824●●●●●●
630. 112460973 c.3070A>G p.T1024A missense 0.00000824●●●●●●
631. 112537619 c.247G>C p.D83H missense 0.00000824●●●●●●
632. 112508746 c.851T>C p.I284T missense 0.00000824●●●●●●
633. 112438977 c.4925C>A p.T1642N missense 0.00000824●●●●●●
634. 112508743 c.854A>T p.E285V missense 0.00000824●●●●●●
635. 112476829 c.1876T>C p.Y626H missense 0.00000824●●●●●●
636. 112508672 c.925G>A p.A309T missense 0.00000824●●●●●●
637. 112437112 c.5045A>T p.H1682L missense 0.00000824●●●●●●
638. 112486471 c.1538A>G p.Q513R missense 0.00000824●●●●●●
639. 112506536 c.959A>G p.E320G missense 0.00000824●●●●●●
640. 112476114 c.1974T>G p.H658Q missense 0.00000824●●●●●●
641. 112463437 c.2530A>G p.S844G missense 0.00000824●●●●●●
642. 112476083 c.2005G>A p.A669T missense 0.00000824●●●●●●
643. 112463394 c.2573T>C p.M858T missense 0.00000824●●●●●●
644. 112460429 c.3154G>C p.V1052L missense 0.00000824●●●●●●
645. 112476119 c.1969T>A p.Y657N missense 0.00000824●●●●●●
646. 112522851 c.461G>A p.R154Q missense 0.00000824●●●●●●
647. 112486450 c.1559T>C p.M520T missense 0.00000824●●●●●●
648. 112471807 c.2058C>A p.D686E missense 0.00000824●●●●●●
649. 112463420 c.2547G>C p.K849N missense 0.00000824●●●●●●
650. 112471798 c.2067G>T p.R689S missense 0.00000824●●●●●●
651. 112463461 c.2506G>C p.A836P missense 0.00000824●●●●●●

* 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.