LAMA4 non-truncating variants in ExAC

LAMA4 gene summary
LAMA4 variants in DCM

The table below lists the LAMA4 non-truncating variants found in the ExAC population database with a mean allelic frequency (MAF) less than 0.0001, classified for this study as a rare variant. 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. 112450240 c.4150T>C p.Y1384H missense 0.00009908●●●●●●
2. 112462026 c.2891C>T p.S964F missense 0.00009900●●●●●●
3. 112437148 c.5009G>A p.R1670H missense 0.00009890●●●●●●
4. 112443256 c.4415G>A p.R1472H missense 0.00009889●●●●●●
5. 112506519 c.976G>A p.A326T missense 0.00009885●●●●●●
6. 112486426 c.1583G>A p.S528N missense 0.00009062●●●●●●
7. 112496595 c.1256T>C p.M419T missense 0.00009060●●●●●●
8. 112575286 c.67C>T p.R23C missense 0.00008823●●●●●●
9. 112575246 c.107T>C p.I36T missense 0.00008804●●●●●●
10. 112466091 c.2377C>T p.R793C missense 0.00008269●●●●●●
11. 112528252 c.392C>T p.P131L missense 0.00008257●●●●●●
12. 112450212 c.4178A>G p.Y1393C missense 0.00008256●●●●●●
13. 112493944 c.1399G>A p.V467I missense 0.00008254●●●●●●
14. 112440462 c.4697G>A p.R1566Q missense 0.00008242●●●●●●
15. 112454586 c.3640C>G p.L1214V missense 0.00008241●●●●●●
16. 112457428 c.3290A>G p.N1097S missense 0.00007428●●●●●●
17. 112493927 c.1416_1421dupTGACTA p.Asp473_Tyr474dup inframe 0.00007422●●●●●●
18. 112508719 c.878G>A p.S293N missense 0.00007417●●●●●●
19. 112461009 c.3034T>C p.Y1012H missense 0.00007416●●●●●●
20. 112443287 c.4384G>A p.A1462T missense 0.00007416●●●●●●
21. 112463419 c.2548G>A p.A850T missense 0.00007415●●●●●●
22. 112575241 c.112G>A p.G38R missense 0.00007314●●●●●●
23. 112480078 c.1652C>T p.A551V missense 0.00006988●●●●●●
24. 112512883 c.673G>C p.A225P missense 0.00006636●●●●●●
25. 112455789 c.3416A>G p.D1139G missense 0.00006612●●●●●●
26. 112508744 c.853G>A p.E285K missense 0.00006595●●●●●●
27. 112463376 c.2591G>A p.R864Q missense 0.00006591●●●●●●
28. 112463368 c.2599C>G p.L867V missense 0.00006591●●●●●●
29. 112522809 c.503G>A p.R168K missense 0.00006591●●●●●●
30. 112463377 c.2590C>T p.R864W missense 0.00006590●●●●●●
31. 112496574 c.1277G>A p.R426H missense 0.00006589●●●●●●
32. 112575190 c.163G>T p.V55L missense 0.00006076●●●●●●
33. 112513035 c.521A>G p.Y174C missense 0.00005971●●●●●●
34. 112453972 c.3796T>C p.F1266L missense 0.00005821●●●●●●
35. 112512978 c.578C>T p.S193L missense 0.00005801●●●●●●
36. 112537612 c.254A>G p.N85S missense 0.00005770●●●●●●
37. 112460485 c.3098T>G p.L1033R missense 0.00005769●●●●●●
38. 112508690 c.907C>G p.H303D missense 0.00005768●●●●●●
39. 112486463 c.1546G>T p.V516L missense 0.00005767●●●●●●
40. 112575165 c.188C>T p.A63V missense 0.00005520●●●●●●
41. 112508789 c.808G>A p.V270I missense 0.00005141●●●●●●
42. 112454085 c.3683G>A p.R1228H missense 0.00004956●●●●●●
43. 112457431 c.3287G>A p.R1096H missense 0.00004953●●●●●●
44. 112528274 c.370G>C p.G124R missense 0.00004952●●●●●●
45. 112528337 c.307C>G p.R103G missense 0.00004950●●●●●●
46. 112469523 c.2168G>A p.R723H missense 0.00004948●●●●●●
47. 112493823 c.1520G>A p.R507Q missense 0.00004946●●●●●●
48. 112454673 c.3553C>T p.L1185F missense 0.00004946●●●●●●
49. 112438956 c.4946G>T p.G1649V missense 0.00004944●●●●●●
50. 112476868 c.1837G>A p.A613T missense 0.00004943●●●●●●
51. 112463389 c.2578C>A p.P860T missense 0.00004943●●●●●●
52. 112496560 c.1291A>G p.T431A missense 0.00004942●●●●●●
53. 112493979 c.1364G>A p.R455Q missense 0.00004155●●●●●●
54. 112493974 c.1369C>G p.H457D missense 0.00004154●●●●●●
55. 112441646 c.4484G>A p.R1495H missense 0.00004153●●●●●●
56. 112439053 c.4849A>C p.N1617H missense 0.00004129●●●●●●
57. 112528289 c.355G>A p.G119R missense 0.00004126●●●●●●
58. 112457417 c.3301C>T p.H1101Y missense 0.00004126●●●●●●
59. 112443346 c.4325G>A p.R1442Q missense 0.00004123●●●●●●
60. 112430767 c.5324G>A p.R1775H missense 0.00004123●●●●●●
61. 112435279 c.5305G>A p.E1769K missense 0.00004123●●●●●●
62. 112440483 c.4676G>A p.R1559Q missense 0.00004122●●●●●●
63. 112440465 c.4694T>G p.L1565R missense 0.00004121●●●●●●
64. 112461021 c.3022G>C p.V1008L missense 0.00004120●●●●●●
65. 112476883 c.1822G>A p.G608R missense 0.00004120●●●●●●
66. 112438951 c.4951G>A p.V1651M missense 0.00004120●●●●●●
67. 112493842 c.1501G>A p.A501T missense 0.00004120●●●●●●
68. 112506459 c.1036G>A p.V346I missense 0.00004119●●●●●●
69. 112575248 c.105C>G p.D35E missense 0.00003497●●●●●●
70. 112575162 c.191C>T p.A64V missense 0.00003391●●●●●●
71. 112512984 c.572G>A p.G191E missense 0.00003318●●●●●●
72. 112450276 c.4114G>A p.V1372M missense 0.00003311●●●●●●
73. 112512916 c.640C>T p.R214C missense 0.00003306●●●●●●
74. 112450156 c.4234T>G p.L1412V missense 0.00003306●●●●●●
75. 112466087 c.2381C>T p.T794M missense 0.00003306●●●●●●
76. 112512925 c.631A>C p.N211H missense 0.00003306●●●●●●
77. 112441499 c.4631G>A p.G1544D missense 0.00003305●●●●●●
78. 112455708 c.3497T>C p.I1166T missense 0.00003304●●●●●●
79. 112430675 c.5416G>A p.G1806S missense 0.00003304●●●●●●
80. 112493953 c.1390T>C p.F464L missense 0.00003304●●●●●●
81. 112450188 c.4202C>T p.P1401L missense 0.00003303●●●●●●
82. 112441569 c.4561C>T p.R1521C missense 0.00003303●●●●●●
83. 112452190 c.3927T>G p.I1309M missense 0.00003303●●●●●●
84. 112440501 c.4658G>A p.R1553Q missense 0.00003301●●●●●●
85. 112528301 c.343G>C p.D115H missense 0.00003300●●●●●●
86. 112466040 c.2428A>T p.R810W missense 0.00003298●●●●●●
87. 112469497 c.2194G>A p.E732K missense 0.00003298●●●●●●
88. 112469487 c.2204A>G p.N735S missense 0.00003297●●●●●●
89. 112479973 c.1757A>G p.H586R missense 0.00003297●●●●●●
90. 112499371 c.1120G>A p.A374T missense 0.00003297●●●●●●
91. 112454653 c.3573C>A p.F1191L missense 0.00003297●●●●●●
92. 112493861 c.1482T>A p.D494E missense 0.00003296●●●●●●
93. 112476055 c.2033C>T p.S678F missense 0.00003296●●●●●●
94. 112476094 c.1994T>C p.L665P missense 0.00003296●●●●●●
95. 112496554 c.1297C>T p.R433W missense 0.00003295●●●●●●
96. 112486396 c.1613G>A p.R538H missense 0.00003295●●●●●●
97. 112496597 c.1254G>T p.K418N missense 0.00003295●●●●●●
98. 112463385 c.2582C>G p.P861R missense 0.00003295●●●●●●
99. 112460348 c.3235G>A p.G1079S missense 0.00003295●●●●●●
100. 112462603 c.2749G>A p.V917I missense 0.00003295●●●●●●
101. 112463362 c.2605G>A p.E869K missense 0.00003295●●●●●●
102. 112575331 c.22C>T p.R8C missense 0.00002797●●●●●●
103. 112453956 c.3812G>T p.G1271V missense 0.00002513●●●●●●
104. 112513009 c.547A>G p.T183A missense 0.00002502●●●●●●
105. 112512883 c.673G>A p.A225T missense 0.00002488●●●●●●
106. 112453998 c.3770G>A p.R1257Q missense 0.00002486●●●●●●
107. 112493962 c.1381C>T p.R461C missense 0.00002482●●●●●●
108. 112450137 c.4253G>A p.S1418N missense 0.00002482●●●●●●
109. 112510336 c.790A>G p.T264A missense 0.00002481●●●●●●
110. 112455790 c.3415G>A p.D1139N missense 0.00002480●●●●●●
111. 112450157 c.4233T>A p.N1411K missense 0.00002479●●●●●●
112. 112441535 c.4595A>T p.K1532I missense 0.00002477●●●●●●
113. 112450213 c.4177T>A p.Y1393N missense 0.00002477●●●●●●
114. 112510369 c.757G>A p.G253R missense 0.00002477●●●●●●
115. 112441568 c.4562G>A p.R1521H missense 0.00002477●●●●●●
116. 112457455 c.3263G>T p.S1088I missense 0.00002477●●●●●●
117. 112528275 c.369G>T p.R123S missense 0.00002476●●●●●●
118. 112450228 c.4162G>A p.V1388I missense 0.00002476●●●●●●
119. 112440504 c.4655T>C p.I1552T missense 0.00002476●●●●●●
120. 112457422 c.3296A>G p.Y1099C missense 0.00002476●●●●●●
121. 112537651 c.215T>C p.F72S missense 0.00002476●●●●●●
122. 112430719 c.5372T>C p.I1791T missense 0.00002475●●●●●●
123. 112537645 c.221C>A p.T74N missense 0.00002475●●●●●●
124. 112435347 c.5237A>G p.H1746R missense 0.00002475●●●●●●
125. 112462098 c.2819T>C p.L940S missense 0.00002474●●●●●●
126. 112463323 c.2644A>C p.N882H missense 0.00002474●●●●●●
127. 112437176 c.4981T>G p.L1661V missense 0.00002474●●●●●●
128. 112439043 c.4859C>T p.S1620F missense 0.00002474●●●●●●
129. 112462089 c.2828C>T p.P943L missense 0.00002474●●●●●●
130. 112439040 c.4862T>G p.I1621S missense 0.00002474●●●●●●
131. 112479963 c.1767C>A p.D589E missense 0.00002473●●●●●●
132. 112479980 c.1750A>G p.I584V missense 0.00002473●●●●●●
133. 112479938 c.1792A>G p.S598G missense 0.00002473●●●●●●
134. 112508708 c.889G>A p.G297R missense 0.00002472●●●●●●
135. 112476777 c.1928G>A p.R643Q missense 0.00002472●●●●●●
136. 112486379 c.1630C>T p.L544F missense 0.00002472●●●●●●
137. 112476891 c.1814A>T p.D605V missense 0.00002472●●●●●●
138. 112476852 c.1853A>G p.N618S missense 0.00002472●●●●●●
139. 112440456 c.4703T>C p.L1568P missense 0.00002472●●●●●●
140. 112469404 c.2287G>T p.D763Y missense 0.00002472●●●●●●
141. 112476853 c.1852A>G p.N618D missense 0.00002472●●●●●●
142. 112476889 c.1816A>G p.M606V missense 0.00002472●●●●●●
143. 112463393 c.2574G>T p.M858I missense 0.00002471●●●●●●
144. 112471745 c.2120A>G p.D707G missense 0.00002471●●●●●●
145. 112471796 c.2069G>A p.R690H missense 0.00002471●●●●●●
146. 112575200 c.153C>A p.S51R missense 0.00002045●●●●●●
147. 112575193 c.160C>T p.R54C missense 0.00002023●●●●●●
148. 112575181 c.172G>A p.G58R missense 0.00001950●●●●●●
149. 112575313 c.40T>C p.W14R missense 0.00001916●●●●●●
150. 112494000 c.1343G>T p.S448I missense 0.00001698●●●●●●
151. 112513026 c.530C>G p.P177R missense 0.00001683●●●●●●
152. 112451152 c.4038T>A p.F1346L missense 0.00001672●●●●●●
153. 112512862 c.694G>T p.A232S missense 0.00001667●●●●●●
154. 112512862 c.694G>A p.A232T missense 0.00001667●●●●●●
155. 112453970 c.3798C>A p.F1266L missense 0.00001664●●●●●●
156. 112512870 c.686A>C p.Y229S missense 0.00001662●●●●●●
157. 112443400 c.4271G>A p.G1424E missense 0.00001659●●●●●●
158. 112537664 c.202A>G p.N68D missense 0.00001657●●●●●●
159. 112512904 c.652G>A p.G218R missense 0.00001656●●●●●●
160. 112537663 c.203A>G p.N68S missense 0.00001655●●●●●●
161. 112510389 c.737G>A p.G246D missense 0.00001654●●●●●●
162. 112528225 c.419C>T p.A140V missense 0.00001654●●●●●●
163. 112512951 c.605G>A p.C202Y missense 0.00001654●●●●●●
164. 112510389 c.737G>C p.G246A missense 0.00001654●●●●●●
165. 112461987 c.2930T>C p.V977A missense 0.00001654●●●●●●
166. 112439066 c.4836C>A p.S1612R missense 0.00001653●●●●●●
167. 112439067 c.4835G>T p.S1612I missense 0.00001653●●●●●●
168. 112466090 c.2378G>A p.R793H missense 0.00001653●●●●●●
169. 112510353 c.773_775delAAG p.Glu258del inframe 0.00001652●●●●●●
170. 112455684 c.3521A>G p.E1174G missense 0.00001652●●●●●●
171. 112455720 c.3485C>T p.P1162L missense 0.00001652●●●●●●
172. 112537655 c.211T>A p.F71I missense 0.00001652●●●●●●
173. 112441502 c.4628A>G p.D1543G missense 0.00001652●●●●●●
174. 112454092 c.3676A>G p.I1226V missense 0.00001652●●●●●●
175. 112457432 c.3286C>A p.R1096S missense 0.00001651●●●●●●
176. 112441568 c.4562G>T p.R1521L missense 0.00001651●●●●●●
177. 112435886 c.5165G>A p.G1722D missense 0.00001651●●●●●●
178. 112454067 c.3701G>A p.G1234E missense 0.00001651●●●●●●
179. 112450242 c.4148G>T p.R1383L missense 0.00001651●●●●●●
180. 112435934 c.5117T>C p.I1706T missense 0.00001651●●●●●●
181. 112457383 c.3335C>A p.P1112H missense 0.00001651●●●●●●
182. 112443383 c.4288C>T p.P1430S missense 0.00001651●●●●●●
183. 112493941 c.1402C>G p.L468V missense 0.00001651●●●●●●
184. 112457333 c.3385T>C p.Y1129H missense 0.00001651●●●●●●
185. 112450243 c.4147C>T p.R1383W missense 0.00001651●●●●●●
186. 112441579 c.4551G>C p.L1517F missense 0.00001651●●●●●●
187. 112437190 c.4967C>T p.S1656F missense 0.00001651●●●●●●
188. 112457365 c.3353C>T p.T1118M missense 0.00001650●●●●●●
189. 112462106 c.2811G>T p.K937N missense 0.00001650●●●●●●
190. 112508765 c.832C>T p.R278W missense 0.00001650●●●●●●
191. 112462038 c.2879C>T p.S960L missense 0.00001650●●●●●●
192. 112466024 c.2444T>C p.I815T missense 0.00001649●●●●●●
193. 112435287 c.5297G>A p.G1766D missense 0.00001649●●●●●●
194. 112466039 c.2429G>T p.R810M missense 0.00001649●●●●●●
195. 112537619 c.247G>A p.D83N missense 0.00001649●●●●●●
196. 112430771 c.5320C>T p.P1774S missense 0.00001649●●●●●●
197. 112499346 c.1145A>G p.H382R missense 0.00001649●●●●●●
198. 112508729 c.868G>A p.G290R missense 0.00001649●●●●●●
199. 112469509 c.2182A>G p.R728G missense 0.00001649●●●●●●
200. 112493909 c.1434G>T p.L478F missense 0.00001649●●●●●●
201. 112469524 c.2167C>T p.R723C missense 0.00001649●●●●●●
202. 112443347 c.4324C>T p.R1442W missense 0.00001649●●●●●●
203. 112443370 c.4301C>T p.P1434L missense 0.00001649●●●●●●
204. 112435303 c.5281C>A p.P1761T missense 0.00001649●●●●●●
205. 112462654 c.2698G>A p.V900I missense 0.00001649●●●●●●
206. 112454684 c.3542T>G p.L1181R missense 0.00001649●●●●●●
207. 112522864 c.448A>T p.N150Y missense 0.00001649●●●●●●
208. 112479943 c.1787A>T p.E596V missense 0.00001649●●●●●●
209. 112466025 c.2443A>G p.I815V missense 0.00001649●●●●●●
210. 112435321 c.5263C>T p.P1755S missense 0.00001649●●●●●●
211. 112430735 c.5356A>G p.I1786V missense 0.00001649●●●●●●
212. 112437131 c.5026G>A p.G1676R missense 0.00001648●●●●●●
213. 112508702 c.895G>A p.A299T missense 0.00001648●●●●●●
214. 112463353 c.2614G>C p.D872H missense 0.00001648●●●●●●
215. 112506482 c.1013C>T p.T338M missense 0.00001648●●●●●●
216. 112476859 c.1846G>A p.A616T missense 0.00001648●●●●●●
217. 112508687 c.910G>A p.V304M missense 0.00001648●●●●●●
218. 112508696 c.901C>T p.H301Y missense 0.00001648●●●●●●
219. 112437143 c.5014A>G p.R1672G missense 0.00001648●●●●●●
220. 112440436 c.4723_4725delACT p.Thr1575del inframe 0.00001648●●●●●●
221. 112462591 c.2761C>A p.P921T missense 0.00001648●●●●●●
222. 112463373 c.2594C>T p.P865L missense 0.00001648●●●●●●
223. 112463412 c.2555C>T p.T852M missense 0.00001648●●●●●●
224. 112508666 c.931A>G p.I311V missense 0.00001648●●●●●●
225. 112476780 c.1925A>G p.D642G missense 0.00001648●●●●●●
226. 112461004 c.3039C>G p.N1013K missense 0.00001648●●●●●●
227. 112460441 c.3142T>C p.S1048P missense 0.00001648●●●●●●
228. 112506506 c.989T>C p.I330T missense 0.00001648●●●●●●
229. 112508699 c.898G>A p.A300T missense 0.00001648●●●●●●
230. 112476073 c.2015T>G p.L672R missense 0.00001648●●●●●●
231. 112460327 c.3256A>G p.N1086D missense 0.00001648●●●●●●
232. 112469395 c.2296G>A p.A766T missense 0.00001648●●●●●●
233. 112460438 c.3145G>A p.G1049S missense 0.00001647●●●●●●
234. 112496554 c.1297C>G p.R433G missense 0.00001647●●●●●●
235. 112471743 c.2122G>T p.A708S missense 0.00001647●●●●●●
236. 112460383 c.3200G>A p.R1067H missense 0.00001647●●●●●●
237. 112460417 c.3166A>G p.I1056V missense 0.00001647●●●●●●
238. 112471806 c.2059A>T p.T687S missense 0.00001647●●●●●●
239. 112496541 c.1310A>G p.D437G missense 0.00001647●●●●●●
240. 112496562 c.1289T>C p.F430S missense 0.00001647●●●●●●
241. 112575255 c.98C>T p.P33L missense 0.00001645●●●●●●
242. 112575261 c.92C>T p.A31V missense 0.00001567●●●●●●
243. 112575264 c.89A>G p.N30S missense 0.00001498●●●●●●
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489. 112486457 c.1552G>A p.E518K missense 0.00000824●●●●●●
490. 112476061 c.2027C>A p.A676E missense 0.00000824●●●●●●
491. 112460359 c.3224C>T p.P1075L missense 0.00000824●●●●●●
492. 112461002 c.3041T>A p.F1014Y missense 0.00000824●●●●●●
493. 112506518 c.977C>T p.A326V missense 0.00000824●●●●●●
494. 112493824 c.1519C>T p.R507W missense 0.00000824●●●●●●
495. 112476075 c.2013A>C p.E671D missense 0.00000824●●●●●●
496. 112486417 c.1592C>T p.A531V missense 0.00000824●●●●●●
497. 112471716 c.2149A>G p.R717G missense 0.00000824●●●●●●
498. 112476892 c.1813G>A p.D605N missense 0.00000824●●●●●●
499. 112496659 c.1192T>C p.Y398H missense 0.00000824●●●●●●
500. 112469461 c.2230G>A p.A744T missense 0.00000824●●●●●●
501. 112454673 c.3553C>A p.L1185I missense 0.00000824●●●●●●
502. 112440438 c.4721C>T p.P1574L missense 0.00000824●●●●●●
503. 112476826 c.1879G>A p.V627I missense 0.00000824●●●●●●
504. 112460982 c.3061G>A p.D1021N missense 0.00000824●●●●●●
505. 112460489 c.3094A>C p.K1032Q missense 0.00000824●●●●●●
506. 112438977 c.4925C>A p.T1642N missense 0.00000824●●●●●●
507. 112537598 c.268G>A p.E90K missense 0.00000824●●●●●●
508. 112496559 c.1292C>G p.T431S missense 0.00000824●●●●●●
509. 112438948 c.4954G>T p.V1652F missense 0.00000824●●●●●●
510. 112460416 c.3167T>C p.I1056T missense 0.00000824●●●●●●
511. 112437112 c.5045A>T p.H1682L missense 0.00000824●●●●●●
512. 112506537 c.958G>A p.E320K missense 0.00000824●●●●●●
513. 112471797 c.2068C>T p.R690C missense 0.00000824●●●●●●
514. 112506530 c.965A>G p.E322G missense 0.00000824●●●●●●
515. 112476094 c.1994T>G p.L665R missense 0.00000824●●●●●●
516. 112460438 c.3145G>C p.G1049R missense 0.00000824●●●●●●
517. 112460990 c.3053A>G p.Y1018C missense 0.00000824●●●●●●
518. 112506494 c.1001A>G p.N334S missense 0.00000824●●●●●●
519. 112506479 c.1016T>C p.M339T missense 0.00000824●●●●●●
520. 112486445 c.1564G>A p.V522M missense 0.00000824●●●●●●
521. 112471799 c.2066G>C p.R689T missense 0.00000824●●●●●●
522. 112440445 c.4714C>T p.L1572F missense 0.00000824●●●●●●
523. 112462620 c.2732C>T p.P911L missense 0.00000824●●●●●●
524. 112522857 c.455C>T p.A152V missense 0.00000824●●●●●●
525. 112462093 c.2824G>C p.V942L missense 0.00000824●●●●●●
526. 112440475 c.4684A>T p.I1562F missense 0.00000824●●●●●●
527. 112499372 c.1119C>A p.H373Q missense 0.00000824●●●●●●
528. 112469379 c.2312T>C p.V771A missense 0.00000824●●●●●●
529. 112461021 c.3022G>A p.V1008M missense 0.00000824●●●●●●
530. 112454643 c.3583A>G p.M1195V missense 0.00000824●●●●●●
531. 112496545 c.1306G>A p.V436M missense 0.00000824●●●●●●
532. 112508750 c.847T>G p.S283A missense 0.00000824●●●●●●
533. 112469441 c.2250C>G p.N750K missense 0.00000824●●●●●●
534. 112508692 c.905G>A p.R302K missense 0.00000824●●●●●●
535. 112476142 c.1946G>A p.S649N missense 0.00000824●●●●●●
536. 112463474 c.2493T>G p.F831L missense 0.00000824●●●●●●
537. 112460465 c.3118G>A p.A1040T missense 0.00000824●●●●●●
538. 112508705 c.892G>A p.A298T missense 0.00000824●●●●●●
539. 112476082 c.2006C>A p.A669D missense 0.00000824●●●●●●
540. 112460356 c.3227C>A p.A1076D missense 0.00000824●●●●●●
541. 112476062 c.2026G>C p.A676P missense 0.00000824●●●●●●
542. 112493835 c.1508C>T p.A503V missense 0.00000824●●●●●●
543. 112462596 c.2756C>T p.S919F missense 0.00000824●●●●●●
544. 112506451 c.1044A>T p.E348D missense 0.00000824●●●●●●
545. 112471790 c.2075G>A p.G692D missense 0.00000824●●●●●●
546. 112438986 c.4916A>G p.E1639G missense 0.00000824●●●●●●
547. 112486399 c.1610C>G p.P537R missense 0.00000824●●●●●●
548. 112440454 c.4705G>C p.E1569Q missense 0.00000824●●●●●●
549. 112499354 c.1137G>T p.E379D missense 0.00000824●●●●●●
550. 112479972 c.1758T>G p.H586Q missense 0.00000824●●●●●●
551. 112463420 c.2547G>C p.K849N missense 0.00000824●●●●●●
552. 112479982 c.1748C>G p.A583G missense 0.00000824●●●●●●
553. 112469481 c.2210C>A p.T737K missense 0.00000824●●●●●●
554. 112496517 c.1334A>G p.E445G missense 0.00000824●●●●●●
555. 112476828 c.1877A>G p.Y626C missense 0.00000824●●●●●●
556. 112460954 c.3089G>C p.R1030P missense 0.00000824●●●●●●
557. 112438996 c.4906G>A p.G1636S missense 0.00000824●●●●●●
558. 112537600 c.266A>G p.N89S missense 0.00000824●●●●●●
559. 112508745 c.852C>G p.I284M missense 0.00000824●●●●●●
560. 112443246 c.4425T>G p.F1475L missense 0.00000824●●●●●●
561. 112437116 c.5041G>A p.G1681S missense 0.00000824●●●●●●
562. 112508671 c.926C>T p.A309V missense 0.00000824●●●●●●
563. 112469512 c.2179T>C p.S727P missense 0.00000824●●●●●●
564. 112476107 c.1981G>A p.E661K missense 0.00000824●●●●●●
565. 112463428 c.2539G>A p.D847N missense 0.00000824●●●●●●
566. 112506498 c.997A>C p.N333H missense 0.00000824●●●●●●
567. 112486469 c.1540G>C p.E514Q missense 0.00000824●●●●●●
568. 112506482 c.1013C>A p.T338K missense 0.00000824●●●●●●
569. 112486448 c.1561G>A p.E521K missense 0.00000824●●●●●●
570. 112460330 c.3253G>A p.V1085I missense 0.00000824●●●●●●
571. 112462638 c.2714C>T p.T905I missense 0.00000824●●●●●●
572. 112499379 c.1112T>C p.I371T missense 0.00000824●●●●●●
573. 112471779 c.2086G>A p.A696T missense 0.00000824●●●●●●
574. 112469426 c.2265G>T p.W755C missense 0.00000824●●●●●●
575. 112461045 c.2998G>C p.E1000Q missense 0.00000824●●●●●●
576. 112440399 c.4760T>C p.L1587S missense 0.00000824●●●●●●
577. 112496661 c.1190A>G p.Y397C missense 0.00000824●●●●●●
578. 112508770 c.827C>G p.A276G missense 0.00000824●●●●●●
579. 112496630 c.1221G>T p.K407N missense 0.00000824●●●●●●
580. 112469446 c.2245G>C p.A749P missense 0.00000824●●●●●●
581. 112537579 c.287G>A p.G96E missense 0.00000824●●●●●●
582. 112476787 c.1918A>G p.T640A missense 0.00000824●●●●●●
583. 112460467 c.3116G>A p.R1039Q missense 0.00000824●●●●●●
584. 112463461 c.2506G>C p.A836P missense 0.00000824●●●●●●
585. 112461018 c.3025A>C p.I1009L missense 0.00000824●●●●●●
586. 112506519 c.976G>T p.A326S missense 0.00000824●●●●●●
587. 112493857 c.1486G>A p.E496K missense 0.00000824●●●●●●
588. 112476083 c.2005G>T p.A669S missense 0.00000824●●●●●●
589. 112463374 c.2593C>T p.P865S missense 0.00000824●●●●●●
590. 112460391 c.3192G>T p.Q1064H missense 0.00000824●●●●●●
591. 112506534 c.961A>G p.R321G missense 0.00000824●●●●●●
592. 112471749 c.2116A>G p.S706G missense 0.00000824●●●●●●
593. 112522837 c.475G>A p.E159K missense 0.00000824●●●●●●
594. 112506454 c.1041G>C p.E347D missense 0.00000824●●●●●●
595. 112486432 c.1577C>A p.S526Y missense 0.00000824●●●●●●
596. 112454688 c.3538G>A p.A1180T missense 0.00000824●●●●●●
597. 112499363 c.1128G>C p.Q376H missense 0.00000824●●●●●●
598. 112479988 c.1742A>G p.Q581R missense 0.00000824●●●●●●
599. 112537619 c.247G>C p.D83H missense 0.00000824●●●●●●
600. 112508746 c.851T>C p.I284T missense 0.00000824●●●●●●
601. 112476829 c.1876T>C p.Y626H missense 0.00000824●●●●●●
602. 112461014 c.3029G>A p.S1010N missense 0.00000824●●●●●●
603. 112454580 c.3646G>A p.V1216I missense 0.00000824●●●●●●
604. 112439029 c.4873T>C p.S1625P 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.