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. 112522809 c.503G>A p.R168K missense 0.00006591●●●●●●
77. 112463376 c.2591G>A p.R864Q 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. 112493823 c.1520G>A p.R507Q missense 0.00004946●●●●●●
97. 112454673 c.3553C>T p.L1185F 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. 112457417 c.3301C>T p.H1101Y missense 0.00004126●●●●●●
107. 112528289 c.355G>A p.G119R 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. 112461021 c.3022G>C p.V1008L missense 0.00004120●●●●●●
114. 112493842 c.1501G>A p.A501T missense 0.00004120●●●●●●
115. 112476883 c.1822G>A p.G608R missense 0.00004120●●●●●●
116. 112438951 c.4951G>A p.V1651M 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. 112512916 c.640C>T p.R214C missense 0.00003306●●●●●●
123. 112512925 c.631A>C p.N211H missense 0.00003306●●●●●●
124. 112466087 c.2381C>T p.T794M missense 0.00003306●●●●●●
125. 112450156 c.4234T>G p.L1412V missense 0.00003306●●●●●●
126. 112441499 c.4631G>A p.G1544D missense 0.00003305●●●●●●
127. 112455708 c.3497T>C p.I1166T missense 0.00003304●●●●●●
128. 112430675 c.5416G>A p.G1806S missense 0.00003304●●●●●●
129. 112493953 c.1390T>C p.F464L missense 0.00003304●●●●●●
130. 112452190 c.3927T>G p.I1309M missense 0.00003303●●●●●●
131. 112441569 c.4561C>T p.R1521C missense 0.00003303●●●●●●
132. 112450188 c.4202C>T p.P1401L missense 0.00003303●●●●●●
133. 112440501 c.4658G>A p.R1553Q missense 0.00003301●●●●●●
134. 112528301 c.343G>C p.D115H missense 0.00003300●●●●●●
135. 112469497 c.2194G>A p.E732K missense 0.00003298●●●●●●
136. 112466040 c.2428A>T p.R810W 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. 112460348 c.3235G>A p.G1079S missense 0.00003295●●●●●●
145. 112496597 c.1254G>T p.K418N missense 0.00003295●●●●●●
146. 112463385 c.2582C>G p.P861R missense 0.00003295●●●●●●
147. 112486396 c.1613G>A p.R538H missense 0.00003295●●●●●●
148. 112463362 c.2605G>A p.E869K missense 0.00003295●●●●●●
149. 112462603 c.2749G>A p.V917I missense 0.00003295●●●●●●
150. 112496554 c.1297C>T p.R433W 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. 112450137 c.4253G>A p.S1418N missense 0.00002482●●●●●●
157. 112493962 c.1381C>T p.R461C 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. 112441568 c.4562G>A p.R1521H missense 0.00002477●●●●●●
162. 112457455 c.3263G>T p.S1088I missense 0.00002477●●●●●●
163. 112510369 c.757G>A p.G253R missense 0.00002477●●●●●●
164. 112450213 c.4177T>A p.Y1393N missense 0.00002477●●●●●●
165. 112441535 c.4595A>T p.K1532I missense 0.00002477●●●●●●
166. 112537651 c.215T>C p.F72S missense 0.00002476●●●●●●
167. 112450228 c.4162G>A p.V1388I missense 0.00002476●●●●●●
168. 112528275 c.369G>T p.R123S missense 0.00002476●●●●●●
169. 112440504 c.4655T>C p.I1552T missense 0.00002476●●●●●●
170. 112457422 c.3296A>G p.Y1099C missense 0.00002476●●●●●●
171. 112430719 c.5372T>C p.I1791T missense 0.00002475●●●●●●
172. 112537645 c.221C>A p.T74N missense 0.00002475●●●●●●
173. 112435347 c.5237A>G p.H1746R missense 0.00002475●●●●●●
174. 112462098 c.2819T>C p.L940S missense 0.00002474●●●●●●
175. 112439040 c.4862T>G p.I1621S missense 0.00002474●●●●●●
176. 112463323 c.2644A>C p.N882H missense 0.00002474●●●●●●
177. 112439043 c.4859C>T p.S1620F missense 0.00002474●●●●●●
178. 112437176 c.4981T>G p.L1661V 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. 112476889 c.1816A>G p.M606V missense 0.00002472●●●●●●
184. 112440456 c.4703T>C p.L1568P missense 0.00002472●●●●●●
185. 112476777 c.1928G>A p.R643Q missense 0.00002472●●●●●●
186. 112486379 c.1630C>T p.L544F missense 0.00002472●●●●●●
187. 112476891 c.1814A>T p.D605V missense 0.00002472●●●●●●
188. 112476852 c.1853A>G p.N618S missense 0.00002472●●●●●●
189. 112508708 c.889G>A p.G297R missense 0.00002472●●●●●●
190. 112476853 c.1852A>G p.N618D missense 0.00002472●●●●●●
191. 112469404 c.2287G>T p.D763Y 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>A p.A232T missense 0.00001667●●●●●●
203. 112512862 c.694G>T p.A232S 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. 112510389 c.737G>A p.G246D missense 0.00001654●●●●●●
211. 112512951 c.605G>A p.C202Y missense 0.00001654●●●●●●
212. 112528225 c.419C>T p.A140V missense 0.00001654●●●●●●
213. 112461987 c.2930T>C p.V977A missense 0.00001654●●●●●●
214. 112510389 c.737G>C p.G246A missense 0.00001654●●●●●●
215. 112466090 c.2378G>A p.R793H missense 0.00001653●●●●●●
216. 112439066 c.4836C>A p.S1612R missense 0.00001653●●●●●●
217. 112439067 c.4835G>T p.S1612I missense 0.00001653●●●●●●
218. 112455684 c.3521A>G p.E1174G missense 0.00001652●●●●●●
219. 112454092 c.3676A>G p.I1226V missense 0.00001652●●●●●●
220. 112455720 c.3485C>T p.P1162L missense 0.00001652●●●●●●
221. 112441502 c.4628A>G p.D1543G missense 0.00001652●●●●●●
222. 112537655 c.211T>A p.F71I missense 0.00001652●●●●●●
223. 112454067 c.3701G>A p.G1234E missense 0.00001651●●●●●●
224. 112457432 c.3286C>A p.R1096S missense 0.00001651●●●●●●
225. 112441579 c.4551G>C p.L1517F missense 0.00001651●●●●●●
226. 112450242 c.4148G>T p.R1383L missense 0.00001651●●●●●●
227. 112457333 c.3385T>C p.Y1129H missense 0.00001651●●●●●●
228. 112435934 c.5117T>C p.I1706T missense 0.00001651●●●●●●
229. 112457383 c.3335C>A p.P1112H missense 0.00001651●●●●●●
230. 112441568 c.4562G>T p.R1521L missense 0.00001651●●●●●●
231. 112493941 c.1402C>G p.L468V missense 0.00001651●●●●●●
232. 112450243 c.4147C>T p.R1383W missense 0.00001651●●●●●●
233. 112437190 c.4967C>T p.S1656F missense 0.00001651●●●●●●
234. 112443383 c.4288C>T p.P1430S missense 0.00001651●●●●●●
235. 112435886 c.5165G>A p.G1722D missense 0.00001651●●●●●●
236. 112462106 c.2811G>T p.K937N missense 0.00001650●●●●●●
237. 112508765 c.832C>T p.R278W missense 0.00001650●●●●●●
238. 112462038 c.2879C>T p.S960L missense 0.00001650●●●●●●
239. 112457365 c.3353C>T p.T1118M missense 0.00001650●●●●●●
240. 112522864 c.448A>T p.N150Y missense 0.00001649●●●●●●
241. 112435287 c.5297G>A p.G1766D missense 0.00001649●●●●●●
242. 112443370 c.4301C>T p.P1434L missense 0.00001649●●●●●●
243. 112466024 c.2444T>C p.I815T missense 0.00001649●●●●●●
244. 112443347 c.4324C>T p.R1442W missense 0.00001649●●●●●●
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491. 112496630 c.1221G>T p.K407N missense 0.00000824●●●●●●
492. 112471798 c.2067G>T p.R689S missense 0.00000824●●●●●●
493. 112471718 c.2147A>G p.E716G missense 0.00000824●●●●●●
494. 112437085 c.5072T>C p.V1691A missense 0.00000824●●●●●●
495. 112486450 c.1559T>C p.M520T missense 0.00000824●●●●●●
496. 112471807 c.2058C>A p.D686E missense 0.00000824●●●●●●
497. 112506498 c.997A>G p.N333D missense 0.00000824●●●●●●
498. 112443226 c.4445T>C p.F1482S missense 0.00000824●●●●●●
499. 112506519 c.976G>T p.A326S missense 0.00000824●●●●●●
500. 112479952 c.1778A>C p.E593A missense 0.00000824●●●●●●
501. 112469439 c.2252A>G p.N751S missense 0.00000824●●●●●●
502. 112443246 c.4425T>G p.F1475L missense 0.00000824●●●●●●
503. 112506454 c.1041G>C p.E347D missense 0.00000824●●●●●●
504. 112460483 c.3100G>T p.A1034S missense 0.00000824●●●●●●
505. 112499363 c.1128G>C p.Q376H missense 0.00000824●●●●●●
506. 112460462 c.3121G>T p.A1041S missense 0.00000824●●●●●●
507. 112499341 c.1150A>G p.M384V missense 0.00000824●●●●●●
508. 112476807 c.1898C>T p.T633I missense 0.00000824●●●●●●
509. 112460359 c.3224C>T p.P1075L missense 0.00000824●●●●●●
510. 112508743 c.854A>T p.E285V missense 0.00000824●●●●●●
511. 112493905 c.1438G>C p.D480H missense 0.00000824●●●●●●
512. 112493824 c.1519C>T p.R507W missense 0.00000824●●●●●●
513. 112476075 c.2013A>C p.E671D missense 0.00000824●●●●●●
514. 112460413 c.3170C>A p.T1057K missense 0.00000824●●●●●●
515. 112537619 c.247G>C p.D83H missense 0.00000824●●●●●●
516. 112476842 c.1863A>C p.E621D missense 0.00000824●●●●●●
517. 112508746 c.851T>C p.I284T missense 0.00000824●●●●●●
518. 112486432 c.1577C>T p.S526F missense 0.00000824●●●●●●
519. 112454673 c.3553C>A p.L1185I missense 0.00000824●●●●●●
520. 112486417 c.1592C>T p.A531V missense 0.00000824●●●●●●
521. 112471788 c.2077G>A p.G693R missense 0.00000824●●●●●●
522. 112454643 c.3583A>G p.M1195V missense 0.00000824●●●●●●
523. 112462611 c.2741C>A p.S914Y missense 0.00000824●●●●●●
524. 112508672 c.925G>A p.A309T missense 0.00000824●●●●●●
525. 112461002 c.3041T>A p.F1014Y missense 0.00000824●●●●●●
526. 112506536 c.959A>G p.E320G missense 0.00000824●●●●●●
527. 112462080 c.2837G>A p.S946N missense 0.00000824●●●●●●
528. 112471797 c.2068C>T p.R690C missense 0.00000824●●●●●●
529. 112522851 c.461G>A p.R154Q missense 0.00000824●●●●●●
530. 112440438 c.4721C>T p.P1574L missense 0.00000824●●●●●●
531. 112476892 c.1813G>A p.D605N missense 0.00000824●●●●●●
532. 112476837 c.1868T>C p.I623T missense 0.00000824●●●●●●
533. 112440474 c.4685T>C p.I1562T missense 0.00000824●●●●●●
534. 112460982 c.3061G>A p.D1021N missense 0.00000824●●●●●●
535. 112476115 c.1973A>C p.H658P missense 0.00000824●●●●●●
536. 112463445 c.2522C>T p.S841L missense 0.00000824●●●●●●
537. 112460438 c.3145G>C p.G1049R missense 0.00000824●●●●●●
538. 112438977 c.4925C>A p.T1642N missense 0.00000824●●●●●●
539. 112496631 c.1220A>G p.K407R missense 0.00000824●●●●●●
540. 112537597 c.269A>G p.E90G missense 0.00000824●●●●●●
541. 112471799 c.2066G>C p.R689T missense 0.00000824●●●●●●
542. 112471752 c.2113C>T p.L705F missense 0.00000824●●●●●●
543. 112437112 c.5045A>T p.H1682L missense 0.00000824●●●●●●
544. 112486457 c.1552G>A p.E518K missense 0.00000824●●●●●●
545. 112476061 c.2027C>A p.A676E missense 0.00000824●●●●●●
546. 112506528 c.967A>T p.N323Y missense 0.00000824●●●●●●
547. 112469410 c.2281C>T p.H761Y missense 0.00000824●●●●●●
548. 112471716 c.2149A>G p.R717G missense 0.00000824●●●●●●
549. 112469461 c.2230G>A p.A744T missense 0.00000824●●●●●●
550. 112469441 c.2250C>G p.N750K missense 0.00000824●●●●●●
551. 112443286 c.4385C>G p.A1462G missense 0.00000824●●●●●●
552. 112460489 c.3094A>C p.K1032Q missense 0.00000824●●●●●●
553. 112499364 c.1127A>G p.Q376R missense 0.00000824●●●●●●
554. 112496521 c.1330T>A p.Y444N missense 0.00000824●●●●●●
555. 112476826 c.1879G>A p.V627I missense 0.00000824●●●●●●
556. 112438948 c.4954G>T p.V1652F missense 0.00000824●●●●●●
557. 112508750 c.847T>C p.S283P missense 0.00000824●●●●●●
558. 112496596 c.1255A>T p.M419L missense 0.00000824●●●●●●
559. 112440394 c.4765G>A p.G1589S missense 0.00000824●●●●●●
560. 112496559 c.1292C>G p.T431S missense 0.00000824●●●●●●
561. 112476094 c.1994T>G p.L665R missense 0.00000824●●●●●●
562. 112493835 c.1508C>T p.A503V missense 0.00000824●●●●●●
563. 112476082 c.2006C>A p.A669D missense 0.00000824●●●●●●
564. 112460416 c.3167T>C p.I1056T missense 0.00000824●●●●●●
565. 112506537 c.958G>A p.E320K missense 0.00000824●●●●●●
566. 112486445 c.1564G>A p.V522M missense 0.00000824●●●●●●
567. 112440438 c.4721C>G p.P1574R missense 0.00000824●●●●●●
568. 112471779 c.2086G>A p.A696T missense 0.00000824●●●●●●
569. 112471790 c.2075G>A p.G692D missense 0.00000824●●●●●●
570. 112462620 c.2732C>T p.P911L missense 0.00000824●●●●●●
571. 112462093 c.2824G>C p.V942L missense 0.00000824●●●●●●
572. 112506518 c.977C>T p.A326V missense 0.00000824●●●●●●
573. 112522857 c.455C>T p.A152V missense 0.00000824●●●●●●
574. 112506494 c.1001A>G p.N334S missense 0.00000824●●●●●●
575. 112440454 c.4705G>C p.E1569Q missense 0.00000824●●●●●●
576. 112479972 c.1758T>G p.H586Q missense 0.00000824●●●●●●
577. 112469379 c.2312T>C p.V771A missense 0.00000824●●●●●●
578. 112461021 c.3022G>A p.V1008M missense 0.00000824●●●●●●
579. 112440475 c.4684A>T p.I1562F missense 0.00000824●●●●●●
580. 112496659 c.1192T>C p.Y398H missense 0.00000824●●●●●●
581. 112476142 c.1946G>A p.S649N missense 0.00000824●●●●●●
582. 112463474 c.2493T>G p.F831L missense 0.00000824●●●●●●
583. 112460465 c.3118G>A p.A1040T missense 0.00000824●●●●●●
584. 112463428 c.2539G>A p.D847N missense 0.00000824●●●●●●
585. 112438996 c.4906G>A p.G1636S missense 0.00000824●●●●●●
586. 112486469 c.1540G>C p.E514Q missense 0.00000824●●●●●●
587. 112476062 c.2026G>C p.A676P missense 0.00000824●●●●●●
588. 112537598 c.268G>A p.E90K missense 0.00000824●●●●●●
589. 112460330 c.3253G>A p.V1085I missense 0.00000824●●●●●●
590. 112437116 c.5041G>A p.G1681S missense 0.00000824●●●●●●
591. 112508705 c.892G>A p.A298T missense 0.00000824●●●●●●
592. 112460990 c.3053A>G p.Y1018C missense 0.00000824●●●●●●
593. 112460356 c.3227C>A p.A1076D missense 0.00000824●●●●●●
594. 112506530 c.965A>G p.E322G missense 0.00000824●●●●●●
595. 112486399 c.1610C>G p.P537R missense 0.00000824●●●●●●
596. 112454580 c.3646G>A p.V1216I missense 0.00000824●●●●●●
597. 112462596 c.2756C>T p.S919F missense 0.00000824●●●●●●
598. 112506479 c.1016T>C p.M339T missense 0.00000824●●●●●●
599. 112479982 c.1748C>G p.A583G missense 0.00000824●●●●●●
600. 112469481 c.2210C>A p.T737K missense 0.00000824●●●●●●
601. 112469446 c.2245G>C p.A749P missense 0.00000824●●●●●●
602. 112499354 c.1137G>T p.E379D missense 0.00000824●●●●●●
603. 112496545 c.1306G>A p.V436M missense 0.00000824●●●●●●
604. 112476828 c.1877A>G p.Y626C missense 0.00000824●●●●●●
605. 112476787 c.1918A>G p.T640A missense 0.00000824●●●●●●
606. 112460954 c.3089G>C p.R1030P missense 0.00000824●●●●●●
607. 112440399 c.4760T>C p.L1587S missense 0.00000824●●●●●●
608. 112499372 c.1119C>A p.H373Q missense 0.00000824●●●●●●
609. 112460491 c.3092A>G p.D1031G missense 0.00000824●●●●●●
610. 112476083 c.2005G>T p.A669S missense 0.00000824●●●●●●
611. 112508750 c.847T>G p.S283A missense 0.00000824●●●●●●
612. 112440445 c.4714C>T p.L1572F missense 0.00000824●●●●●●
613. 112476107 c.1981G>A p.E661K missense 0.00000824●●●●●●
614. 112508692 c.905G>A p.R302K missense 0.00000824●●●●●●
615. 112508671 c.926C>T p.A309V missense 0.00000824●●●●●●
616. 112486448 c.1561G>A p.E521K missense 0.00000824●●●●●●
617. 112454688 c.3538G>A p.A1180T missense 0.00000824●●●●●●
618. 112476119 c.1969T>A p.Y657N missense 0.00000824●●●●●●
619. 112486432 c.1577C>A p.S526Y missense 0.00000824●●●●●●
620. 112462638 c.2714C>T p.T905I missense 0.00000824●●●●●●
621. 112469512 c.2179T>C p.S727P missense 0.00000824●●●●●●
622. 112506498 c.997A>C p.N333H missense 0.00000824●●●●●●
623. 112463420 c.2547G>C p.K849N missense 0.00000824●●●●●●
624. 112469481 c.2210C>T p.T737M missense 0.00000824●●●●●●
625. 112469426 c.2265G>T p.W755C missense 0.00000824●●●●●●
626. 112461045 c.2998G>C p.E1000Q missense 0.00000824●●●●●●
627. 112469449 c.2242A>C p.M748L missense 0.00000824●●●●●●
628. 112506451 c.1044A>T p.E348D missense 0.00000824●●●●●●
629. 112461014 c.3029G>A p.S1010N missense 0.00000824●●●●●●
630. 112460443 c.3140G>A p.G1047D missense 0.00000824●●●●●●
631. 112439029 c.4873T>C p.S1625P missense 0.00000824●●●●●●
632. 112496661 c.1190A>G p.Y397C missense 0.00000824●●●●●●
633. 112460467 c.3116G>A p.R1039Q missense 0.00000824●●●●●●
634. 112496517 c.1334A>G p.E445G missense 0.00000824●●●●●●
635. 112493857 c.1486G>A p.E496K missense 0.00000824●●●●●●
636. 112493820 c.1523A>T p.D508V missense 0.00000824●●●●●●
637. 112463374 c.2593C>T p.P865S missense 0.00000824●●●●●●
638. 112486471 c.1538A>G p.Q513R missense 0.00000824●●●●●●
639. 112460391 c.3192G>T p.Q1064H missense 0.00000824●●●●●●
640. 112537600 c.266A>G p.N89S missense 0.00000824●●●●●●
641. 112508745 c.852C>G p.I284M missense 0.00000824●●●●●●
642. 112438986 c.4916A>G p.E1639G missense 0.00000824●●●●●●
643. 112460332 c.3251T>C p.M1084T missense 0.00000824●●●●●●
644. 112537579 c.287G>A p.G96E missense 0.00000824●●●●●●
645. 112486412 c.1597T>C p.S533P missense 0.00000824●●●●●●
646. 112471749 c.2116A>G p.S706G missense 0.00000824●●●●●●
647. 112454583 c.3643G>A p.G1215R missense 0.00000824●●●●●●
648. 112463461 c.2506G>C p.A836P missense 0.00000824●●●●●●
649. 112461018 c.3025A>C p.I1009L missense 0.00000824●●●●●●
650. 112506534 c.961A>G p.R321G missense 0.00000824●●●●●●
651. 112454670 c.3556C>A p.P1186T 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.