LAMA4 protein-altering variants in ExAC

LAMA4 gene summary
LAMA4 variants in DCM

The table below lists the LAMA4 protein-altering 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. 112430668 c.5423dupT p.Ser1809LysfsTer11 frameshift 0.00009916●●●●●●
2. 112450240 c.4150T>C p.Y1384H missense 0.00009908●●●●●●
3. 112462026 c.2891C>T p.S964F missense 0.00009900●●●●●●
4. 112437148 c.5009G>A p.R1670H missense 0.00009890●●●●●●
5. 112443256 c.4415G>A p.R1472H missense 0.00009889●●●●●●
6. 112506519 c.976G>A p.A326T missense 0.00009885●●●●●●
7. 112486426 c.1583G>A p.S528N missense 0.00009062●●●●●●
8. 112496595 c.1256T>C p.M419T missense 0.00009060●●●●●●
9. 112575286 c.67C>T p.R23C missense 0.00008823●●●●●●
10. 112575246 c.107T>C p.I36T missense 0.00008804●●●●●●
11. 112466091 c.2377C>T p.R793C missense 0.00008269●●●●●●
12. 112528252 c.392C>T p.P131L missense 0.00008257●●●●●●
13. 112450212 c.4178A>G p.Y1393C missense 0.00008256●●●●●●
14. 112493944 c.1399G>A p.V467I missense 0.00008254●●●●●●
15. 112440462 c.4697G>A p.R1566Q missense 0.00008242●●●●●●
16. 112454586 c.3640C>G p.L1214V missense 0.00008241●●●●●●
17. 112457428 c.3290A>G p.N1097S missense 0.00007428●●●●●●
18. 112493927 c.1416_1421dupTGACTA p.Asp473_Tyr474dup inframe 0.00007422●●●●●●
19. 112508719 c.878G>A p.S293N missense 0.00007417●●●●●●
20. 112443287 c.4384G>A p.A1462T missense 0.00007416●●●●●●
21. 112461009 c.3034T>C p.Y1012H missense 0.00007416●●●●●●
22. 112463419 c.2548G>A p.A850T missense 0.00007415●●●●●●
23. 112575241 c.112G>A p.G38R missense 0.00007314●●●●●●
24. 112480078 c.1652C>T p.A551V missense 0.00006988●●●●●●
25. 112512883 c.673G>C p.A225P missense 0.00006636●●●●●●
26. 112455789 c.3416A>G p.D1139G missense 0.00006612●●●●●●
27. 112508744 c.853G>A p.E285K missense 0.00006595●●●●●●
28. 112522809 c.503G>A p.R168K missense 0.00006591●●●●●●
29. 112463376 c.2591G>A p.R864Q missense 0.00006591●●●●●●
30. 112463368 c.2599C>G p.L867V missense 0.00006591●●●●●●
31. 112463377 c.2590C>T p.R864W missense 0.00006590●●●●●●
32. 112496574 c.1277G>A p.R426H missense 0.00006589●●●●●●
33. 112575190 c.163G>T p.V55L missense 0.00006076●●●●●●
34. 112513035 c.521A>G p.Y174C missense 0.00005971●●●●●●
35. 112453972 c.3796T>C p.F1266L missense 0.00005821●●●●●●
36. 112512978 c.578C>T p.S193L missense 0.00005801●●●●●●
37. 112537612 c.254A>G p.N85S missense 0.00005770●●●●●●
38. 112460485 c.3098T>G p.L1033R missense 0.00005769●●●●●●
39. 112508690 c.907C>G p.H303D missense 0.00005768●●●●●●
40. 112486463 c.1546G>T p.V516L missense 0.00005767●●●●●●
41. 112575165 c.188C>T p.A63V missense 0.00005520●●●●●●
42. 112508789 c.808G>A p.V270I missense 0.00005141●●●●●●
43. 112454085 c.3683G>A p.R1228H missense 0.00004956●●●●●●
44. 112457431 c.3287G>A p.R1096H missense 0.00004953●●●●●●
45. 112528274 c.370G>C p.G124R missense 0.00004952●●●●●●
46. 112528337 c.307C>G p.R103G missense 0.00004950●●●●●●
47. 112469523 c.2168G>A p.R723H missense 0.00004948●●●●●●
48. 112454673 c.3553C>T p.L1185F missense 0.00004946●●●●●●
49. 112493823 c.1520G>A p.R507Q missense 0.00004946●●●●●●
50. 112438956 c.4946G>T p.G1649V missense 0.00004944●●●●●●
51. 112476868 c.1837G>A p.A613T missense 0.00004943●●●●●●
52. 112463389 c.2578C>A p.P860T missense 0.00004943●●●●●●
53. 112496560 c.1291A>G p.T431A missense 0.00004942●●●●●●
54. 112493979 c.1364G>A p.R455Q missense 0.00004155●●●●●●
55. 112493974 c.1369C>G p.H457D missense 0.00004154●●●●●●
56. 112441646 c.4484G>A p.R1495H missense 0.00004153●●●●●●
57. 112439053 c.4849A>C p.N1617H missense 0.00004129●●●●●●
58. 112457417 c.3301C>T p.H1101Y missense 0.00004126●●●●●●
59. 112528289 c.355G>A p.G119R missense 0.00004126●●●●●●
60. 112443346 c.4325G>A p.R1442Q missense 0.00004123●●●●●●
61. 112430767 c.5324G>A p.R1775H missense 0.00004123●●●●●●
62. 112435279 c.5305G>A p.E1769K missense 0.00004123●●●●●●
63. 112440483 c.4676G>A p.R1559Q missense 0.00004122●●●●●●
64. 112440465 c.4694T>G p.L1565R missense 0.00004121●●●●●●
65. 112493842 c.1501G>A p.A501T missense 0.00004120●●●●●●
66. 112461021 c.3022G>C p.V1008L missense 0.00004120●●●●●●
67. 112476883 c.1822G>A p.G608R missense 0.00004120●●●●●●
68. 112438951 c.4951G>A p.V1651M missense 0.00004120●●●●●●
69. 112506459 c.1036G>A p.V346I missense 0.00004119●●●●●●
70. 112508805 c.794-2A>C essential splice site 0.00003578●●●●●●
71. 112575248 c.105C>G p.D35E missense 0.00003497●●●●●●
72. 112575162 c.191C>T p.A64V missense 0.00003391●●●●●●
73. 112512984 c.572G>A p.G191E missense 0.00003318●●●●●●
74. 112450276 c.4114G>A p.V1372M missense 0.00003311●●●●●●
75. 112512925 c.631A>C p.N211H missense 0.00003306●●●●●●
76. 112512916 c.640C>T p.R214C missense 0.00003306●●●●●●
77. 112450156 c.4234T>G p.L1412V missense 0.00003306●●●●●●
78. 112466087 c.2381C>T p.T794M missense 0.00003306●●●●●●
79. 112441499 c.4631G>A p.G1544D missense 0.00003305●●●●●●
80. 112493953 c.1390T>C p.F464L missense 0.00003304●●●●●●
81. 112430675 c.5416G>A p.G1806S missense 0.00003304●●●●●●
82. 112455708 c.3497T>C p.I1166T missense 0.00003304●●●●●●
83. 112441569 c.4561C>T p.R1521C missense 0.00003303●●●●●●
84. 112450188 c.4202C>T p.P1401L missense 0.00003303●●●●●●
85. 112452190 c.3927T>G p.I1309M missense 0.00003303●●●●●●
86. 112440501 c.4658G>A p.R1553Q missense 0.00003301●●●●●●
87. 112528301 c.343G>C p.D115H missense 0.00003300●●●●●●
88. 112469497 c.2194G>A p.E732K missense 0.00003298●●●●●●
89. 112466040 c.2428A>T p.R810W missense 0.00003298●●●●●●
90. 112479973 c.1757A>G p.H586R missense 0.00003297●●●●●●
91. 112454653 c.3573C>A p.F1191L missense 0.00003297●●●●●●
92. 112499371 c.1120G>A p.A374T missense 0.00003297●●●●●●
93. 112469487 c.2204A>G p.N735S missense 0.00003297●●●●●●
94. 112493861 c.1482T>A p.D494E missense 0.00003296●●●●●●
95. 112476055 c.2033C>T p.S678F missense 0.00003296●●●●●●
96. 112476094 c.1994T>C p.L665P missense 0.00003296●●●●●●
97. 112463385 c.2582C>G p.P861R missense 0.00003295●●●●●●
98. 112460348 c.3235G>A p.G1079S missense 0.00003295●●●●●●
99. 112496554 c.1297C>T p.R433W missense 0.00003295●●●●●●
100. 112486396 c.1613G>A p.R538H missense 0.00003295●●●●●●
101. 112463362 c.2605G>A p.E869K missense 0.00003295●●●●●●
102. 112462603 c.2749G>A p.V917I missense 0.00003295●●●●●●
103. 112496597 c.1254G>T p.K418N missense 0.00003295●●●●●●
104. 112451077 c.4112+1G>C essential splice site 0.00002960●●●●●●
105. 112575331 c.22C>T p.R8C missense 0.00002797●●●●●●
106. 112453956 c.3812G>T p.G1271V missense 0.00002513●●●●●●
107. 112513009 c.547A>G p.T183A missense 0.00002502●●●●●●
108. 112512883 c.673G>A p.A225T missense 0.00002488●●●●●●
109. 112453998 c.3770G>A p.R1257Q missense 0.00002486●●●●●●
110. 112493962 c.1381C>T p.R461C missense 0.00002482●●●●●●
111. 112450137 c.4253G>A p.S1418N missense 0.00002482●●●●●●
112. 112510336 c.790A>G p.T264A missense 0.00002481●●●●●●
113. 112455790 c.3415G>A p.D1139N missense 0.00002480●●●●●●
114. 112450157 c.4233T>A p.N1411K missense 0.00002479●●●●●●
115. 112435865 c.5185+1G>A essential splice site 0.00002478●●●●●●
116. 112441568 c.4562G>A p.R1521H missense 0.00002477●●●●●●
117. 112450213 c.4177T>A p.Y1393N missense 0.00002477●●●●●●
118. 112457455 c.3263G>T p.S1088I missense 0.00002477●●●●●●
119. 112441535 c.4595A>T p.K1532I missense 0.00002477●●●●●●
120. 112510369 c.757G>A p.G253R missense 0.00002477●●●●●●
121. 112450228 c.4162G>A p.V1388I missense 0.00002476●●●●●●
122. 112528275 c.369G>T p.R123S missense 0.00002476●●●●●●
123. 112440504 c.4655T>C p.I1552T missense 0.00002476●●●●●●
124. 112457422 c.3296A>G p.Y1099C missense 0.00002476●●●●●●
125. 112537651 c.215T>C p.F72S missense 0.00002476●●●●●●
126. 112430719 c.5372T>C p.I1791T missense 0.00002475●●●●●●
127. 112537645 c.221C>A p.T74N missense 0.00002475●●●●●●
128. 112435347 c.5237A>G p.H1746R missense 0.00002475●●●●●●
129. 112462098 c.2819T>C p.L940S missense 0.00002474●●●●●●
130. 112463323 c.2644A>C p.N882H missense 0.00002474●●●●●●
131. 112439043 c.4859C>T p.S1620F missense 0.00002474●●●●●●
132. 112462089 c.2828C>T p.P943L missense 0.00002474●●●●●●
133. 112439040 c.4862T>G p.I1621S missense 0.00002474●●●●●●
134. 112437176 c.4981T>G p.L1661V missense 0.00002474●●●●●●
135. 112479938 c.1792A>G p.S598G missense 0.00002473●●●●●●
136. 112479980 c.1750A>G p.I584V missense 0.00002473●●●●●●
137. 112479963 c.1767C>A p.D589E missense 0.00002473●●●●●●
138. 112508708 c.889G>A p.G297R missense 0.00002472●●●●●●
139. 112476891 c.1814A>T p.D605V missense 0.00002472●●●●●●
140. 112476852 c.1853A>G p.N618S missense 0.00002472●●●●●●
141. 112486379 c.1630C>T p.L544F missense 0.00002472●●●●●●
142. 112440456 c.4703T>C p.L1568P missense 0.00002472●●●●●●
143. 112476889 c.1816A>G p.M606V missense 0.00002472●●●●●●
144. 112469404 c.2287G>T p.D763Y missense 0.00002472●●●●●●
145. 112476777 c.1928G>A p.R643Q missense 0.00002472●●●●●●
146. 112476853 c.1852A>G p.N618D missense 0.00002472●●●●●●
147. 112471745 c.2120A>G p.D707G missense 0.00002471●●●●●●
148. 112471796 c.2069G>A p.R690H missense 0.00002471●●●●●●
149. 112463393 c.2574G>T p.M858I missense 0.00002471●●●●●●
150. 112575200 c.153C>A p.S51R missense 0.00002045●●●●●●
151. 112575193 c.160C>T p.R54C missense 0.00002023●●●●●●
152. 112575181 c.172G>A p.G58R missense 0.00001950●●●●●●
153. 112575313 c.40T>C p.W14R missense 0.00001916●●●●●●
154. 112513054 c.504-2A>G essential splice site 0.00001832●●●●●●
155. 112494000 c.1343G>T p.S448I missense 0.00001698●●●●●●
156. 112513026 c.530C>G p.P177R missense 0.00001683●●●●●●
157. 112451152 c.4038T>A p.F1346L missense 0.00001672●●●●●●
158. 112512862 c.694G>A p.A232T missense 0.00001667●●●●●●
159. 112512862 c.694G>T p.A232S missense 0.00001667●●●●●●
160. 112453970 c.3798C>A p.F1266L missense 0.00001664●●●●●●
161. 112512870 c.686A>C p.Y229S missense 0.00001662●●●●●●
162. 112443400 c.4271G>A p.G1424E missense 0.00001659●●●●●●
163. 112537664 c.202A>G p.N68D missense 0.00001657●●●●●●
164. 112512904 c.652G>A p.G218R missense 0.00001656●●●●●●
165. 112537663 c.203A>G p.N68S missense 0.00001655●●●●●●
166. 112528225 c.419C>T p.A140V missense 0.00001654●●●●●●
167. 112512951 c.605G>A p.C202Y missense 0.00001654●●●●●●
168. 112510389 c.737G>C p.G246A missense 0.00001654●●●●●●
169. 112510389 c.737G>A p.G246D missense 0.00001654●●●●●●
170. 112461987 c.2930T>C p.V977A missense 0.00001654●●●●●●
171. 112466090 c.2378G>A p.R793H missense 0.00001653●●●●●●
172. 112439066 c.4836C>A p.S1612R missense 0.00001653●●●●●●
173. 112439067 c.4835G>T p.S1612I missense 0.00001653●●●●●●
174. 112455720 c.3485C>T p.P1162L missense 0.00001652●●●●●●
175. 112441502 c.4628A>G p.D1543G missense 0.00001652●●●●●●
176. 112454092 c.3676A>G p.I1226V missense 0.00001652●●●●●●
177. 112510353 c.773_775delAAG p.Glu258del inframe 0.00001652●●●●●●
178. 112537655 c.211T>A p.F71I missense 0.00001652●●●●●●
179. 112455684 c.3521A>G p.E1174G missense 0.00001652●●●●●●
180. 112450243 c.4147C>T p.R1383W missense 0.00001651●●●●●●
181. 112457333 c.3385T>C p.Y1129H missense 0.00001651●●●●●●
182. 112437190 c.4967C>T p.S1656F missense 0.00001651●●●●●●
183. 112435886 c.5165G>A p.G1722D missense 0.00001651●●●●●●
184. 112441579 c.4551G>C p.L1517F missense 0.00001651●●●●●●
185. 112493941 c.1402C>G p.L468V missense 0.00001651●●●●●●
186. 112435934 c.5117T>C p.I1706T missense 0.00001651●●●●●●
187. 112452217 c.3900C>A p.Y1300X nonsense 0.00001651●●●●●●
188. 112450242 c.4148G>T p.R1383L missense 0.00001651●●●●●●
189. 112454067 c.3701G>A p.G1234E missense 0.00001651●●●●●●
190. 112443383 c.4288C>T p.P1430S missense 0.00001651●●●●●●
191. 112441568 c.4562G>T p.R1521L missense 0.00001651●●●●●●
192. 112457432 c.3286C>A p.R1096S missense 0.00001651●●●●●●
193. 112457383 c.3335C>A p.P1112H missense 0.00001651●●●●●●
194. 112508765 c.832C>T p.R278W missense 0.00001650●●●●●●
195. 112462038 c.2879C>T p.S960L missense 0.00001650●●●●●●
196. 112457365 c.3353C>T p.T1118M missense 0.00001650●●●●●●
197. 112462106 c.2811G>T p.K937N missense 0.00001650●●●●●●
198. 112443347 c.4324C>T p.R1442W missense 0.00001649●●●●●●
199. 112537619 c.247G>A p.D83N missense 0.00001649●●●●●●
200. 112469524 c.2167C>T p.R723C missense 0.00001649●●●●●●
201. 112435287 c.5297G>A p.G1766D missense 0.00001649●●●●●●
202. 112435321 c.5263C>T p.P1755S missense 0.00001649●●●●●●
203. 112430735 c.5356A>G p.I1786V missense 0.00001649●●●●●●
204. 112466039 c.2429G>T p.R810M missense 0.00001649●●●●●●
205. 112462654 c.2698G>A p.V900I missense 0.00001649●●●●●●
206. 112469509 c.2182A>G p.R728G missense 0.00001649●●●●●●
207. 112454684 c.3542T>G p.L1181R missense 0.00001649●●●●●●
208. 112522864 c.448A>T p.N150Y missense 0.00001649●●●●●●
209. 112430771 c.5320C>T p.P1774S missense 0.00001649●●●●●●
210. 112466034 c.2434C>T p.R812X nonsense 0.00001649●●●●●●
211. 112466024 c.2444T>C p.I815T missense 0.00001649●●●●●●
212. 112479943 c.1787A>T p.E596V missense 0.00001649●●●●●●
213. 112435303 c.5281C>A p.P1761T missense 0.00001649●●●●●●
214. 112499346 c.1145A>G p.H382R missense 0.00001649●●●●●●
215. 112443370 c.4301C>T p.P1434L missense 0.00001649●●●●●●
216. 112493909 c.1434G>T p.L478F missense 0.00001649●●●●●●
217. 112466025 c.2443A>G p.I815V missense 0.00001649●●●●●●
218. 112508729 c.868G>A p.G290R missense 0.00001649●●●●●●
219. 112440436 c.4723_4725delACT p.Thr1575del inframe 0.00001648●●●●●●
220. 112463373 c.2594C>T p.P865L missense 0.00001648●●●●●●
221. 112506506 c.989T>C p.I330T missense 0.00001648●●●●●●
222. 112476859 c.1846G>A p.A616T missense 0.00001648●●●●●●
223. 112462591 c.2761C>A p.P921T missense 0.00001648●●●●●●
224. 112508699 c.898G>A p.A300T missense 0.00001648●●●●●●
225. 112463412 c.2555C>T p.T852M missense 0.00001648●●●●●●
226. 112460441 c.3142T>C p.S1048P missense 0.00001648●●●●●●
227. 112537605 c.261_262dupTT p.Ser88PhefsTer111 frameshift 0.00001648●●●●●●
228. 112476780 c.1925A>G p.D642G missense 0.00001648●●●●●●
229. 112437131 c.5026G>A p.G1676R missense 0.00001648●●●●●●
230. 112476073 c.2015T>G p.L672R missense 0.00001648●●●●●●
231. 112461004 c.3039C>G p.N1013K missense 0.00001648●●●●●●
232. 112506482 c.1013C>T p.T338M missense 0.00001648●●●●●●
233. 112508702 c.895G>A p.A299T missense 0.00001648●●●●●●
234. 112508687 c.910G>A p.V304M missense 0.00001648●●●●●●
235. 112437143 c.5014A>G p.R1672G missense 0.00001648●●●●●●
236. 112463353 c.2614G>C p.D872H missense 0.00001648●●●●●●
237. 112508666 c.931A>G p.I311V missense 0.00001648●●●●●●
238. 112469395 c.2296G>A p.A766T missense 0.00001648●●●●●●
239. 112508696 c.901C>T p.H301Y missense 0.00001648●●●●●●
240. 112460327 c.3256A>G p.N1086D missense 0.00001648●●●●●●
241. 112460383 c.3200G>A p.R1067H missense 0.00001647●●●●●●
242. 112496541 c.1310A>G p.D437G missense 0.00001647●●●●●●
243. 112471806 c.2059A>T p.T687S missense 0.00001647●●●●●●
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489. 112460321 c.3261+1G>T essential splice site 0.00000824●●●●●●
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491. 112499379 c.1112T>C p.I371T missense 0.00000824●●●●●●
492. 112462611 c.2741C>A p.S914Y missense 0.00000824●●●●●●
493. 112486412 c.1597T>C p.S533P missense 0.00000824●●●●●●
494. 112460990 c.3053A>G p.Y1018C missense 0.00000824●●●●●●
495. 112496661 c.1190A>G p.Y397C missense 0.00000824●●●●●●
496. 112469481 c.2210C>T p.T737M missense 0.00000824●●●●●●
497. 112440445 c.4714C>T p.L1572F missense 0.00000824●●●●●●
498. 112496630 c.1221G>T p.K407N missense 0.00000824●●●●●●
499. 112462080 c.2837G>A p.S946N missense 0.00000824●●●●●●
500. 112438986 c.4916A>G p.E1639G missense 0.00000824●●●●●●
501. 112463420 c.2547G>C p.K849N missense 0.00000824●●●●●●
502. 112496517 c.1334A>G p.E445G missense 0.00000824●●●●●●
503. 112476826 c.1879G>A p.V627I missense 0.00000824●●●●●●
504. 112460982 c.3061G>A p.D1021N missense 0.00000824●●●●●●
505. 112440399 c.4760T>C p.L1587S missense 0.00000824●●●●●●
506. 112506519 c.976G>T p.A326S missense 0.00000824●●●●●●
507. 112493905 c.1438G>C p.D480H missense 0.00000824●●●●●●
508. 112476107 c.1981G>A p.E661K missense 0.00000824●●●●●●
509. 112463445 c.2522C>T p.S841L missense 0.00000824●●●●●●
510. 112506521 c.974_975insA p.Tyr325Ter frameshift 0.00000824●●●●●●
511. 112506534 c.961A>G p.R321G missense 0.00000824●●●●●●
512. 112443321 c.4350C>A p.C1450X nonsense 0.00000824●●●●●●
513. 112460330 c.3253G>A p.V1085I missense 0.00000824●●●●●●
514. 112522814 c.498T>A p.C166X nonsense 0.00000824●●●●●●
515. 112506482 c.1013C>A p.T338K missense 0.00000824●●●●●●
516. 112506454 c.1041G>C p.E347D missense 0.00000824●●●●●●
517. 112486432 c.1577C>T p.S526F missense 0.00000824●●●●●●
518. 112499363 c.1128G>C p.Q376H missense 0.00000824●●●●●●
519. 112508746 c.851T>C p.I284T missense 0.00000824●●●●●●
520. 112469446 c.2245G>A p.A749T missense 0.00000824●●●●●●
521. 112469439 c.2252A>G p.N751S missense 0.00000824●●●●●●
522. 112508770 c.827C>G p.A276G missense 0.00000824●●●●●●
523. 112537600 c.266A>G p.N89S missense 0.00000824●●●●●●
524. 112460954 c.3089G>C p.R1030P missense 0.00000824●●●●●●
525. 112439029 c.4873T>C p.S1625P missense 0.00000824●●●●●●
526. 112508672 c.925G>A p.A309T missense 0.00000824●●●●●●
527. 112469449 c.2242A>C p.M748L missense 0.00000824●●●●●●
528. 112460391 c.3192G>T p.Q1064H missense 0.00000824●●●●●●
529. 112506498 c.997A>G p.N333D missense 0.00000824●●●●●●
530. 112493824 c.1519C>T p.R507W missense 0.00000824●●●●●●
531. 112476083 c.2005G>T p.A669S missense 0.00000824●●●●●●
532. 112437085 c.5072T>C p.V1691A missense 0.00000824●●●●●●
533. 112486457 c.1552G>A p.E518K missense 0.00000824●●●●●●
534. 112469401 c.2290delT p.Ser764LeufsTer8 frameshift 0.00000824●●●●●●
535. 112486417 c.1592C>T p.A531V missense 0.00000824●●●●●●
536. 112460356 c.3227C>A p.A1076D missense 0.00000824●●●●●●
537. 112461018 c.3025A>C p.I1009L missense 0.00000824●●●●●●
538. 112471749 c.2116A>G p.S706G missense 0.00000824●●●●●●
539. 112462620 c.2732C>T p.P911L missense 0.00000824●●●●●●
540. 112438959 c.4943delG p.Gly1648GlufsTer6 frameshift 0.00000824●●●●●●
541. 112479982 c.1748C>G p.A583G missense 0.00000824●●●●●●
542. 112462093 c.2824G>C p.V942L missense 0.00000824●●●●●●
543. 112499341 c.1150A>G p.M384V missense 0.00000824●●●●●●
544. 112496631 c.1220A>G p.K407R missense 0.00000824●●●●●●
545. 112454580 c.3646G>A p.V1216I missense 0.00000824●●●●●●
546. 112440411 c.4748G>A p.G1583D missense 0.00000824●●●●●●
547. 112537579 c.287G>A p.G96E missense 0.00000824●●●●●●
548. 112508743 c.854A>T p.E285V missense 0.00000824●●●●●●
549. 112476828 c.1877A>G p.Y626C missense 0.00000824●●●●●●
550. 112461021 c.3022G>A p.V1008M missense 0.00000824●●●●●●
551. 112461038 c.3005C>A p.A1002D missense 0.00000824●●●●●●
552. 112506528 c.967A>T p.N323Y missense 0.00000824●●●●●●
553. 112493907 c.1436C>A p.S479X nonsense 0.00000824●●●●●●
554. 112476114 c.1974T>G p.H658Q missense 0.00000824●●●●●●
555. 112463474 c.2493T>G p.F831L missense 0.00000824●●●●●●
556. 112460467 c.3116G>A p.R1039Q missense 0.00000824●●●●●●
557. 112463428 c.2539G>A p.D847N missense 0.00000824●●●●●●
558. 112460443 c.3140G>A p.G1047D missense 0.00000824●●●●●●
559. 112438965 c.4937C>T p.T1646I missense 0.00000824●●●●●●
560. 112506536 c.959A>G p.E320G missense 0.00000824●●●●●●
561. 112471807 c.2058C>A p.D686E missense 0.00000824●●●●●●
562. 112460332 c.3251T>C p.M1084T missense 0.00000824●●●●●●
563. 112522837 c.475G>A p.E159K missense 0.00000824●●●●●●
564. 112469512 c.2179T>C p.S727P missense 0.00000824●●●●●●
565. 112486445 c.1564G>A p.V522M missense 0.00000824●●●●●●
566. 112499364 c.1127A>G p.Q376R missense 0.00000824●●●●●●
567. 112462596 c.2756C>T p.S919F missense 0.00000824●●●●●●
568. 112440474 c.4685T>C p.I1562T missense 0.00000824●●●●●●
569. 112508750 c.847T>C p.S283P missense 0.00000824●●●●●●
570. 112471779 c.2086G>A p.A696T missense 0.00000824●●●●●●
571. 112496596 c.1255A>T p.M419L missense 0.00000824●●●●●●
572. 112469461 c.2230G>A p.A744T missense 0.00000824●●●●●●
573. 112469441 c.2250C>G p.N750K missense 0.00000824●●●●●●
574. 112454688 c.3538G>A p.A1180T missense 0.00000824●●●●●●
575. 112476892 c.1813G>A p.D605N missense 0.00000824●●●●●●
576. 112460955 c.3088C>T p.R1030X nonsense 0.00000824●●●●●●
577. 112476787 c.1918A>G p.T640A missense 0.00000824●●●●●●
578. 112460429 c.3154G>C p.V1052L missense 0.00000824●●●●●●
579. 112469448 c.2243dupT p.Met748IlefsTer16 frameshift 0.00000824●●●●●●
580. 112443246 c.4425T>G p.F1475L missense 0.00000824●●●●●●
581. 112506518 c.977C>T p.A326V missense 0.00000824●●●●●●
582. 112493835 c.1508C>T p.A503V missense 0.00000824●●●●●●
583. 112476083 c.2005G>A p.A669T missense 0.00000824●●●●●●
584. 112486471 c.1538A>G p.Q513R missense 0.00000824●●●●●●
585. 112476842 c.1863A>C p.E621D missense 0.00000824●●●●●●
586. 112476075 c.2013A>C p.E671D missense 0.00000824●●●●●●
587. 112463461 c.2506G>C p.A836P missense 0.00000824●●●●●●
588. 112471798 c.2067G>T p.R689S missense 0.00000824●●●●●●
589. 112471797 c.2068C>T p.R690C missense 0.00000824●●●●●●
590. 112486399 c.1610C>G p.P537R missense 0.00000824●●●●●●
591. 112471788 c.2077G>A p.G693R missense 0.00000824●●●●●●
592. 112462638 c.2714C>T p.T905I missense 0.00000824●●●●●●
593. 112438975 c.4927delT p.Tyr1643ThrfsTer11 frameshift 0.00000824●●●●●●
594. 112486436 c.1573_1574delAT p.M525Vfs*20 frameshift 0.00000824●●●●●●
595. 112479988 c.1742A>G p.Q581R missense 0.00000824●●●●●●
596. 112454670 c.3556C>A p.P1186T missense 0.00000824●●●●●●
597. 112537619 c.247G>C p.D83H missense 0.00000824●●●●●●
598. 112461014 c.3029G>A p.S1010N missense 0.00000824●●●●●●
599. 112454583 c.3643G>A p.G1215R missense 0.00000824●●●●●●
600. 112440438 c.4721C>T p.P1574L missense 0.00000824●●●●●●
601. 112537597 c.269A>G p.E90G missense 0.00000824●●●●●●
602. 112496559 c.1292C>G p.T431S missense 0.00000824●●●●●●
603. 112476829 c.1876T>C p.Y626H missense 0.00000824●●●●●●
604. 112469379 c.2312T>C p.V771A missense 0.00000824●●●●●●
605. 112461045 c.2998G>C p.E1000Q missense 0.00000824●●●●●●
606. 112438977 c.4925C>A p.T1642N missense 0.00000824●●●●●●
607. 112506537 c.958G>A p.E320K missense 0.00000824●●●●●●
608. 112438948 c.4954G>T p.V1652F missense 0.00000824●●●●●●
609. 112522807 c.503+2T>C essential splice site 0.00000824●●●●●●
610. 112496521 c.1330T>A p.Y444N missense 0.00000824●●●●●●
611. 112476115 c.1973A>C p.H658P missense 0.00000824●●●●●●
612. 112460483 c.3100G>T p.A1034S missense 0.00000824●●●●●●
613. 112522841 c.471dupT p.Asn158Ter frameshift 0.00000824●●●●●●
614. 112460462 c.3121G>T p.A1041S missense 0.00000824●●●●●●
615. 112471718 c.2147A>G p.E716G missense 0.00000824●●●●●●
616. 112506479 c.1016T>C p.M339T missense 0.00000824●●●●●●
617. 112486448 c.1561G>A p.E521K missense 0.00000824●●●●●●
618. 112476061 c.2027C>A p.A676E missense 0.00000824●●●●●●
619. 112463374 c.2593C>T p.P865S missense 0.00000824●●●●●●
620. 112460413 c.3170C>A p.T1057K missense 0.00000824●●●●●●
621. 112454554 c.3672_3675delACTT p.Leu1225TyrfsTer63 frameshift 0.00000824●●●●●●
622. 112460359 c.3224C>T p.P1075L missense 0.00000824●●●●●●
623. 112437112 c.5045A>T p.H1682L missense 0.00000824●●●●●●
624. 112522851 c.461G>A p.R154Q missense 0.00000824●●●●●●
625. 112506494 c.1001A>G p.N334S missense 0.00000824●●●●●●
626. 112486469 c.1540G>C p.E514Q missense 0.00000824●●●●●●
627. 112443226 c.4445T>C p.F1482S missense 0.00000824●●●●●●
628. 112460491 c.3092A>G p.D1031G missense 0.00000824●●●●●●
629. 112499372 c.1119C>A p.H373Q missense 0.00000824●●●●●●
630. 112471716 c.2149A>G p.R717G missense 0.00000824●●●●●●
631. 112496659 c.1192T>C p.Y398H missense 0.00000824●●●●●●
632. 112440475 c.4684A>T p.I1562F missense 0.00000824●●●●●●
633. 112440394 c.4765G>A p.G1589S missense 0.00000824●●●●●●
634. 112508750 c.847T>G p.S283A missense 0.00000824●●●●●●
635. 112476119 c.1969T>A p.Y657N missense 0.00000824●●●●●●
636. 112479952 c.1778A>C p.E593A missense 0.00000824●●●●●●
637. 112469481 c.2210C>A p.T737K missense 0.00000824●●●●●●
638. 112469446 c.2245G>C p.A749P missense 0.00000824●●●●●●
639. 112508692 c.905G>A p.R302K missense 0.00000824●●●●●●
640. 112476807 c.1898C>T p.T633I missense 0.00000824●●●●●●
641. 112479972 c.1758T>G p.H586Q missense 0.00000824●●●●●●
642. 112460973 c.3070A>G p.T1024A missense 0.00000824●●●●●●
643. 112460366 c.3217C>T p.R1073X nonsense 0.00000824●●●●●●
644. 112508705 c.892G>A p.A298T 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.