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. 112575345 c.8dupT p.Leu3PhefsTer33 frameshift 0.00000921●●●●●●
2. 112575342 c.11G>A p.S4N missense 0.00000923●●●●●●
3. 112575331 c.22C>T p.R8C missense 0.00002797●●●●●●
4. 112575331 c.22C>A p.R8S missense 0.00000932●●●●●●
5. 112575313 c.40T>C p.W14R missense 0.00001916●●●●●●
6. 112575290 c.63C>G p.C21W missense 0.00001067●●●●●●
7. 112575286 c.67C>T p.R23C missense 0.00008823●●●●●●
8. 112575286 c.67C>G p.R23G missense 0.00001103●●●●●●
9. 112575264 c.89A>G p.N30S missense 0.00001498●●●●●●
10. 112575261 c.92C>T p.A31V missense 0.00001567●●●●●●
11. 112575255 c.98C>T p.P33L missense 0.00001645●●●●●●
12. 112575248 c.105C>G p.D35E missense 0.00003497●●●●●●
13. 112575246 c.107T>C p.I36T missense 0.00008804●●●●●●
14. 112575241 c.112G>A p.G38R missense 0.00007314●●●●●●
15. 112575200 c.153C>A p.S51R missense 0.00002045●●●●●●
16. 112575193 c.160C>T p.R54C missense 0.00002023●●●●●●
17. 112575190 c.163G>T p.V55L missense 0.00006076●●●●●●
18. 112575181 c.172G>A p.G58R missense 0.00001950●●●●●●
19. 112575165 c.188C>T p.A63V missense 0.00005520●●●●●●
20. 112575162 c.191C>T p.A64V missense 0.00003391●●●●●●
21. 112537664 c.202A>G p.N68D missense 0.00001657●●●●●●
22. 112537663 c.203A>G p.N68S missense 0.00001655●●●●●●
23. 112537655 c.211T>A p.F71I missense 0.00001652●●●●●●
24. 112537651 c.215T>C p.F72S missense 0.00002476●●●●●●
25. 112537645 c.221C>A p.T74N missense 0.00002475●●●●●●
26. 112537642 c.224T>C p.L75P missense 0.00000825●●●●●●
27. 112537619 c.247G>A p.D83N missense 0.00001649●●●●●●
28. 112537619 c.247G>C p.D83H missense 0.00000824●●●●●●
29. 112537612 c.254A>G p.N85S missense 0.00005770●●●●●●
30. 112537605 c.261_262dupTT p.Ser88PhefsTer111 frameshift 0.00001648●●●●●●
31. 112537600 c.266A>G p.N89S missense 0.00000824●●●●●●
32. 112537598 c.268G>A p.E90K missense 0.00000824●●●●●●
33. 112537597 c.269A>G p.E90G missense 0.00000824●●●●●●
34. 112537579 c.287G>A p.G96E missense 0.00000824●●●●●●
35. 112528342 c.302_303delGC p.Cys101SerfsTer10 frameshift 0.00000825●●●●●●
36. 112528337 c.307C>G p.R103G missense 0.00004950●●●●●●
37. 112528336 c.308G>T p.R103L missense 0.00000825●●●●●●
38. 112528324 c.320G>A p.G107E missense 0.00000825●●●●●●
39. 112528309 c.335A>G p.K112R missense 0.00000825●●●●●●
40. 112528305 c.339T>A p.C113X nonsense 0.00000825●●●●●●
41. 112528301 c.343G>C p.D115H missense 0.00003300●●●●●●
42. 112528301 c.343G>A p.D115N missense 0.00000825●●●●●●
43. 112528298 c.346G>A p.G116S missense 0.00000825●●●●●●
44. 112528289 c.355G>A p.G119R missense 0.00004126●●●●●●
45. 112528277 c.367A>G p.R123G missense 0.00000825●●●●●●
46. 112528275 c.369G>T p.R123S missense 0.00002476●●●●●●
47. 112528274 c.370G>C p.G124R missense 0.00004952●●●●●●
48. 112528252 c.392C>T p.P131L missense 0.00008257●●●●●●
49. 112528252 c.392C>A p.P131Q missense 0.00000826●●●●●●
50. 112528249 c.395G>C p.C132S missense 0.00000826●●●●●●
51. 112528240 c.404C>T p.P135L missense 0.00000826●●●●●●
52. 112528232 c.412C>T p.H138Y missense 0.00000826●●●●●●
53. 112528226 c.418G>A p.A140T missense 0.00000827●●●●●●
54. 112528225 c.419C>T p.A140V missense 0.00001654●●●●●●
55. 112522889 c.423T>G p.N141K missense 0.00000825●●●●●●
56. 112522864 c.448A>T p.N150Y missense 0.00001649●●●●●●
57. 112522857 c.455C>T p.A152V missense 0.00000824●●●●●●
58. 112522851 c.461G>A p.R154Q missense 0.00000824●●●●●●
59. 112522841 c.471dupT p.Asn158Ter frameshift 0.00000824●●●●●●
60. 112522837 c.475G>A p.E159K missense 0.00000824●●●●●●
61. 112522814 c.498T>A p.C166X nonsense 0.00000824●●●●●●
62. 112522809 c.503G>A p.R168K missense 0.00006591●●●●●●
63. 112522807 c.503+2T>C essential splice site 0.00000824●●●●●●
64. 112513054 c.504-2A>G essential splice site 0.00001832●●●●●●
65. 112513035 c.521A>G p.Y174C missense 0.00005971●●●●●●
66. 112513030 c.526A>G p.N176D missense 0.00000845●●●●●●
67. 112513026 c.530C>G p.P177R missense 0.00001683●●●●●●
68. 112513009 c.547A>G p.T183A missense 0.00002502●●●●●●
69. 112512994 c.562G>T p.D188Y missense 0.00000830●●●●●●
70. 112512990 c.566G>T p.C189F missense 0.00000830●●●●●●
71. 112512984 c.572G>A p.G191E missense 0.00003318●●●●●●
72. 112512978 c.578C>T p.S193L missense 0.00005801●●●●●●
73. 112512951 c.605G>A p.C202Y missense 0.00001654●●●●●●
74. 112512939 c.617C>G p.T206S missense 0.00000827●●●●●●
75. 112512925 c.631A>C p.N211H missense 0.00003306●●●●●●
76. 112512916 c.640C>T p.R214C missense 0.00003306●●●●●●
77. 112512904 c.652G>A p.G218R missense 0.00001656●●●●●●
78. 112512889 c.667C>T p.R223C missense 0.00000829●●●●●●
79. 112512883 c.673G>C p.A225P missense 0.00006636●●●●●●
80. 112512883 c.673G>A p.A225T missense 0.00002488●●●●●●
81. 112512880 c.676C>T p.P226S missense 0.00000830●●●●●●
82. 112512873 c.683A>G p.Y228C missense 0.00000831●●●●●●
83. 112512870 c.686A>C p.Y229S missense 0.00001662●●●●●●
84. 112512862 c.694G>A p.A232T missense 0.00001667●●●●●●
85. 112512862 c.694G>T p.A232S missense 0.00001667●●●●●●
86. 112512857 c.699G>T p.R233S missense 0.00000835●●●●●●
87. 112510408 c.719-1G>A essential splice site 0.00000834●●●●●●
88. 112510404 c.722G>C p.C241S missense 0.00000831●●●●●●
89. 112510396 c.730G>A p.G244R missense 0.00000829●●●●●●
90. 112510393 c.733G>A p.G245R missense 0.00000828●●●●●●
91. 112510389 c.737G>C p.G246A missense 0.00001654●●●●●●
92. 112510389 c.737G>A p.G246D missense 0.00001654●●●●●●
93. 112510369 c.757G>A p.G253R missense 0.00002477●●●●●●
94. 112510353 c.773_775delAAG p.Glu258del inframe 0.00001652●●●●●●
95. 112510350 c.776G>A p.G259D missense 0.00000826●●●●●●
96. 112510336 c.790A>G p.T264A missense 0.00002481●●●●●●
97. 112508805 c.794-2A>C essential splice site 0.00003578●●●●●●
98. 112508800 c.797G>A p.C266Y missense 0.00000882●●●●●●
99. 112508789 c.808G>A p.V270I missense 0.00005141●●●●●●
100. 112508786 c.811T>C p.W271R missense 0.00000855●●●●●●
101. 112508780 c.817C>A p.L273M missense 0.00000848●●●●●●
102. 112508770 c.827C>G p.A276G missense 0.00000824●●●●●●
103. 112508765 c.832C>T p.R278W missense 0.00001650●●●●●●
104. 112508750 c.847T>C p.S283P missense 0.00000824●●●●●●
105. 112508750 c.847T>G p.S283A missense 0.00000824●●●●●●
106. 112508746 c.851T>C p.I284T missense 0.00000824●●●●●●
107. 112508745 c.852C>G p.I284M missense 0.00000824●●●●●●
108. 112508744 c.853G>A p.E285K missense 0.00006595●●●●●●
109. 112508743 c.854A>T p.E285V missense 0.00000824●●●●●●
110. 112508729 c.868G>A p.G290R missense 0.00001649●●●●●●
111. 112508719 c.878G>A p.S293N missense 0.00007417●●●●●●
112. 112508708 c.889G>A p.G297R missense 0.00002472●●●●●●
113. 112508705 c.892G>A p.A298T missense 0.00000824●●●●●●
114. 112508702 c.895G>A p.A299T missense 0.00001648●●●●●●
115. 112508699 c.898G>A p.A300T missense 0.00001648●●●●●●
116. 112508696 c.901C>T p.H301Y missense 0.00001648●●●●●●
117. 112508692 c.905G>A p.R302K missense 0.00000824●●●●●●
118. 112508690 c.907C>G p.H303D missense 0.00005768●●●●●●
119. 112508687 c.910G>A p.V304M missense 0.00001648●●●●●●
120. 112508672 c.925G>A p.A309T missense 0.00000824●●●●●●
121. 112508671 c.926C>T p.A309V missense 0.00000824●●●●●●
122. 112508666 c.931A>G p.I311V missense 0.00001648●●●●●●
123. 112506537 c.958G>A p.E320K missense 0.00000824●●●●●●
124. 112506536 c.959A>G p.E320G missense 0.00000824●●●●●●
125. 112506534 c.961A>G p.R321G missense 0.00000824●●●●●●
126. 112506530 c.965A>G p.E322G missense 0.00000824●●●●●●
127. 112506528 c.967A>T p.N323Y missense 0.00000824●●●●●●
128. 112506521 c.974_975insA p.Tyr325Ter frameshift 0.00000824●●●●●●
129. 112506519 c.976G>A p.A326T missense 0.00009885●●●●●●
130. 112506519 c.976G>T p.A326S missense 0.00000824●●●●●●
131. 112506518 c.977C>T p.A326V missense 0.00000824●●●●●●
132. 112506506 c.989T>C p.I330T missense 0.00001648●●●●●●
133. 112506498 c.997A>C p.N333H missense 0.00000824●●●●●●
134. 112506498 c.997A>G p.N333D missense 0.00000824●●●●●●
135. 112506494 c.1001A>G p.N334S missense 0.00000824●●●●●●
136. 112506482 c.1013C>A p.T338K missense 0.00000824●●●●●●
137. 112506482 c.1013C>T p.T338M missense 0.00001648●●●●●●
138. 112506479 c.1016T>C p.M339T missense 0.00000824●●●●●●
139. 112506459 c.1036G>A p.V346I missense 0.00004119●●●●●●
140. 112506454 c.1041G>C p.E347D missense 0.00000824●●●●●●
141. 112506451 c.1044A>T p.E348D missense 0.00000824●●●●●●
142. 112499425 c.1066G>A p.A356T missense 0.00000838●●●●●●
143. 112499421 c.1070C>T p.S357F missense 0.00000833●●●●●●
144. 112499404 c.1087G>T p.V363F missense 0.00000826●●●●●●
145. 112499390 c.1101C>A p.S367R missense 0.00000825●●●●●●
146. 112499385 c.1106A>G p.D369G missense 0.00000825●●●●●●
147. 112499379 c.1112T>C p.I371T missense 0.00000824●●●●●●
148. 112499372 c.1119C>A p.H373Q missense 0.00000824●●●●●●
149. 112499371 c.1120G>A p.A374T missense 0.00003297●●●●●●
150. 112499364 c.1127A>G p.Q376R missense 0.00000824●●●●●●
151. 112499363 c.1128G>C p.Q376H missense 0.00000824●●●●●●
152. 112499354 c.1137G>T p.E379D missense 0.00000824●●●●●●
153. 112499346 c.1145A>G p.H382R missense 0.00001649●●●●●●
154. 112499341 c.1150A>G p.M384V missense 0.00000824●●●●●●
155. 112499328 c.1163T>C p.I388T missense 0.00000825●●●●●●
156. 112496661 c.1190A>G p.Y397C missense 0.00000824●●●●●●
157. 112496659 c.1192T>C p.Y398H missense 0.00000824●●●●●●
158. 112496631 c.1220A>G p.K407R missense 0.00000824●●●●●●
159. 112496630 c.1221G>T p.K407N missense 0.00000824●●●●●●
160. 112496597 c.1254G>T p.K418N missense 0.00003295●●●●●●
161. 112496596 c.1255A>T p.M419L missense 0.00000824●●●●●●
162. 112496595 c.1256T>C p.M419T missense 0.00009060●●●●●●
163. 112496574 c.1277G>A p.R426H missense 0.00006589●●●●●●
164. 112496562 c.1289T>C p.F430S missense 0.00001647●●●●●●
165. 112496560 c.1291A>G p.T431A missense 0.00004942●●●●●●
166. 112496559 c.1292C>G p.T431S missense 0.00000824●●●●●●
167. 112496554 c.1297C>T p.R433W missense 0.00003295●●●●●●
168. 112496554 c.1297C>G p.R433G missense 0.00001647●●●●●●
169. 112496545 c.1306G>A p.V436M missense 0.00000824●●●●●●
170. 112496541 c.1310A>G p.D437G missense 0.00001647●●●●●●
171. 112496521 c.1330T>A p.Y444N missense 0.00000824●●●●●●
172. 112496517 c.1334A>G p.E445G missense 0.00000824●●●●●●
173. 112494000 c.1343G>T p.S448I missense 0.00001698●●●●●●
174. 112493979 c.1364G>A p.R455Q missense 0.00004155●●●●●●
175. 112493974 c.1369C>G p.H457D missense 0.00004154●●●●●●
176. 112493964 c.1379C>T p.T460I missense 0.00000827●●●●●●
177. 112493962 c.1381C>T p.R461C missense 0.00002482●●●●●●
178. 112493956 c.1387C>G p.L463V missense 0.00000826●●●●●●
179. 112493953 c.1390T>C p.F464L missense 0.00003304●●●●●●
180. 112493944 c.1399G>A p.V467I missense 0.00008254●●●●●●
181. 112493941 c.1402C>G p.L468V missense 0.00001651●●●●●●
182. 112493940 c.1403T>C p.L468P missense 0.00000825●●●●●●
183. 112493928 c.1415A>T p.D472V missense 0.00000825●●●●●●
184. 112493927 c.1416_1421dupTGACTA p.Asp473_Tyr474dup inframe 0.00007422●●●●●●
185. 112493920 c.1423A>G p.N475D missense 0.00000825●●●●●●
186. 112493909 c.1434G>T p.L478F missense 0.00001649●●●●●●
187. 112493907 c.1436C>A p.S479X nonsense 0.00000824●●●●●●
188. 112493905 c.1438G>C p.D480H missense 0.00000824●●●●●●
189. 112493861 c.1482T>A p.D494E missense 0.00003296●●●●●●
190. 112493857 c.1486G>A p.E496K missense 0.00000824●●●●●●
191. 112493842 c.1501G>A p.A501T missense 0.00004120●●●●●●
192. 112493835 c.1508C>T p.A503V missense 0.00000824●●●●●●
193. 112493824 c.1519C>T p.R507W missense 0.00000824●●●●●●
194. 112493823 c.1520G>A p.R507Q missense 0.00004946●●●●●●
195. 112493820 c.1523A>T p.D508V missense 0.00000824●●●●●●
196. 112486471 c.1538A>G p.Q513R missense 0.00000824●●●●●●
197. 112486469 c.1540G>C p.E514Q missense 0.00000824●●●●●●
198. 112486463 c.1546G>T p.V516L missense 0.00005767●●●●●●
199. 112486457 c.1552G>A p.E518K missense 0.00000824●●●●●●
200. 112486450 c.1559T>C p.M520T missense 0.00000824●●●●●●
201. 112486448 c.1561G>A p.E521K missense 0.00000824●●●●●●
202. 112486445 c.1564G>A p.V522M missense 0.00000824●●●●●●
203. 112486436 c.1573_1574delAT p.M525Vfs*20 frameshift 0.00000824●●●●●●
204. 112486432 c.1577C>A p.S526Y missense 0.00000824●●●●●●
205. 112486432 c.1577C>T p.S526F missense 0.00000824●●●●●●
206. 112486426 c.1583G>A p.S528N missense 0.00009062●●●●●●
207. 112486417 c.1592C>T p.A531V missense 0.00000824●●●●●●
208. 112486412 c.1597T>C p.S533P missense 0.00000824●●●●●●
209. 112486399 c.1610C>G p.P537R missense 0.00000824●●●●●●
210. 112486396 c.1613G>A p.R538H missense 0.00003295●●●●●●
211. 112486379 c.1630C>T p.L544F missense 0.00002472●●●●●●
212. 112480078 c.1652C>T p.A551V missense 0.00006988●●●●●●
213. 112480066 c.1664A>T p.Y555F missense 0.00000833●●●●●●
214. 112480056 c.1674A>G p.I558M missense 0.00000829●●●●●●
215. 112480052 c.1678G>A p.G560R missense 0.00000828●●●●●●
216. 112480036 c.1694T>A p.L565Q missense 0.00000826●●●●●●
217. 112480034 c.1696C>T p.Q566X nonsense 0.00000825●●●●●●
218. 112480025 c.1705C>G p.L569V missense 0.00000825●●●●●●
219. 112480017 c.1713C>A p.N571K missense 0.00000825●●●●●●
220. 112480015 c.1715T>C p.L572P missense 0.00000825●●●●●●
221. 112480007 c.1723C>G p.L575V missense 0.00000825●●●●●●
222. 112479988 c.1742A>G p.Q581R missense 0.00000824●●●●●●
223. 112479982 c.1748C>G p.A583G missense 0.00000824●●●●●●
224. 112479980 c.1750A>G p.I584V missense 0.00002473●●●●●●
225. 112479973 c.1757A>G p.H586R missense 0.00003297●●●●●●
226. 112479972 c.1758T>G p.H586Q missense 0.00000824●●●●●●
227. 112479963 c.1767C>A p.D589E missense 0.00002473●●●●●●
228. 112479952 c.1778A>C p.E593A missense 0.00000824●●●●●●
229. 112479943 c.1787A>T p.E596V missense 0.00001649●●●●●●
230. 112479938 c.1792A>G p.S598G missense 0.00002473●●●●●●
231. 112476892 c.1813G>A p.D605N missense 0.00000824●●●●●●
232. 112476891 c.1814A>T p.D605V missense 0.00002472●●●●●●
233. 112476889 c.1816A>G p.M606V missense 0.00002472●●●●●●
234. 112476883 c.1822G>A p.G608R missense 0.00004120●●●●●●
235. 112476868 c.1837G>A p.A613T missense 0.00004943●●●●●●
236. 112476859 c.1846G>A p.A616T missense 0.00001648●●●●●●
237. 112476853 c.1852A>G p.N618D missense 0.00002472●●●●●●
238. 112476852 c.1853A>G p.N618S missense 0.00002472●●●●●●
239. 112476842 c.1863A>C p.E621D missense 0.00000824●●●●●●
240. 112476837 c.1868T>C p.I623T missense 0.00000824●●●●●●
241. 112476829 c.1876T>C p.Y626H missense 0.00000824●●●●●●
242. 112476828 c.1877A>G p.Y626C missense 0.00000824●●●●●●
243. 112476826 c.1879G>A p.V627I missense 0.00000824●●●●●●
244. 112476807 c.1898C>T p.T633I missense 0.00000824●●●●●●
245. 112476787 c.1918A>G p.T640A missense 0.00000824●●●●●●
246. 112476780 c.1925A>G p.D642G missense 0.00001648●●●●●●
247. 112476778 c.1927C>T p.R643X nonsense 0.00000824●●●●●●
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491. 112450240 c.4150T>C p.Y1384H missense 0.00009908●●●●●●
492. 112450228 c.4162G>A p.V1388I missense 0.00002476●●●●●●
493. 112450216 c.4174C>T p.L1392F missense 0.00000826●●●●●●
494. 112450213 c.4177T>A p.Y1393N missense 0.00002477●●●●●●
495. 112450212 c.4178A>G p.Y1393C missense 0.00008256●●●●●●
496. 112450195 c.4195T>A p.S1399T missense 0.00000826●●●●●●
497. 112450188 c.4202C>T p.P1401L missense 0.00003303●●●●●●
498. 112450188 c.4202C>A p.P1401Q missense 0.00000826●●●●●●
499. 112450179 c.4211T>A p.L1404H missense 0.00000826●●●●●●
500. 112450176 c.4214T>C p.L1405P missense 0.00000826●●●●●●
501. 112450173 c.4217A>G p.H1406R missense 0.00000826●●●●●●
502. 112450164 c.4226G>A p.G1409E missense 0.00000826●●●●●●
503. 112450162 c.4228A>G p.K1410E missense 0.00000826●●●●●●
504. 112450157 c.4233T>A p.N1411K missense 0.00002479●●●●●●
505. 112450156 c.4234T>G p.L1412V missense 0.00003306●●●●●●
506. 112450153 c.4237T>C p.S1413P missense 0.00000826●●●●●●
507. 112450140 c.4250C>T p.A1417V missense 0.00000827●●●●●●
508. 112450137 c.4253G>A p.S1418N missense 0.00002482●●●●●●
509. 112450131 c.4259delA p.N1420Ifs*18 frameshift 0.00000828●●●●●●
510. 112450122 c.4266+2T>G essential splice site 0.00000828●●●●●●
511. 112443403 c.4268G>C p.G1423A missense 0.00000830●●●●●●
512. 112443400 c.4271G>A p.G1424E missense 0.00001659●●●●●●
513. 112443383 c.4288C>T p.P1430S missense 0.00001651●●●●●●
514. 112443383 c.4288C>A p.P1430T missense 0.00000826●●●●●●
515. 112443379 c.4292C>T p.S1431L missense 0.00000825●●●●●●
516. 112443371 c.4300C>T p.P1434S missense 0.00000825●●●●●●
517. 112443370 c.4301C>T p.P1434L missense 0.00001649●●●●●●
518. 112443364 c.4307C>T p.A1436V missense 0.00000825●●●●●●
519. 112443356 c.4315C>A p.L1439I missense 0.00000825●●●●●●
520. 112443347 c.4324C>T p.R1442W missense 0.00001649●●●●●●
521. 112443346 c.4325G>A p.R1442Q missense 0.00004123●●●●●●
522. 112443321 c.4350C>A p.C1450X nonsense 0.00000824●●●●●●
523. 112443287 c.4384G>A p.A1462T missense 0.00007416●●●●●●
524. 112443286 c.4385C>G p.A1462G missense 0.00000824●●●●●●
525. 112443256 c.4415G>A p.R1472H missense 0.00009889●●●●●●
526. 112443246 c.4425T>G p.F1475L missense 0.00000824●●●●●●
527. 112443226 c.4445T>C p.F1482S missense 0.00000824●●●●●●
528. 112441669 c.4461G>T p.Q1487H missense 0.00000844●●●●●●
529. 112441659 c.4471C>T p.R1491C missense 0.00000836●●●●●●
530. 112441646 c.4484G>A p.R1495H missense 0.00004153●●●●●●
531. 112441632 c.4498A>G p.M1500V missense 0.00000828●●●●●●
532. 112441623 c.4507T>C p.Y1503H missense 0.00000827●●●●●●
533. 112441622 c.4508A>T p.Y1503F missense 0.00000827●●●●●●
534. 112441601 c.4529A>G p.N1510S missense 0.00000826●●●●●●
535. 112441580 c.4550T>A p.L1517X nonsense 0.00000826●●●●●●
536. 112441579 c.4551G>C p.L1517F missense 0.00001651●●●●●●
537. 112441572 c.4558G>A p.G1520S missense 0.00000826●●●●●●
538. 112441569 c.4561C>T p.R1521C missense 0.00003303●●●●●●
539. 112441568 c.4562G>A p.R1521H missense 0.00002477●●●●●●
540. 112441568 c.4562G>T p.R1521L missense 0.00001651●●●●●●
541. 112441563 c.4567G>A p.V1523I missense 0.00000825●●●●●●
542. 112441557 c.4573A>G p.M1525V missense 0.00000825●●●●●●
543. 112441552 c.4578T>A p.F1526L missense 0.00000825●●●●●●
544. 112441550 c.4580A>G p.N1527S missense 0.00000825●●●●●●
545. 112441535 c.4595A>T p.K1532I missense 0.00002477●●●●●●
546. 112441528 c.4602G>T p.K1534N missense 0.00000826●●●●●●
547. 112441518 c.4612C>T p.Q1538X nonsense 0.00000826●●●●●●
548. 112441505 c.4625A>T p.N1542I missense 0.00000826●●●●●●
549. 112441502 c.4628A>G p.D1543G missense 0.00001652●●●●●●
550. 112441499 c.4631G>A p.G1544D missense 0.00003305●●●●●●
551. 112440516 c.4645-2A>C essential splice site 0.00000826●●●●●●
552. 112440511 c.4648A>G p.I1550V missense 0.00000826●●●●●●
553. 112440504 c.4655T>C p.I1552T missense 0.00002476●●●●●●
554. 112440501 c.4658G>A p.R1553Q missense 0.00003301●●●●●●
555. 112440501 c.4658G>C p.R1553P missense 0.00000825●●●●●●
556. 112440499 c.4660G>A p.E1554K missense 0.00000825●●●●●●
557. 112440483 c.4676G>A p.R1559Q missense 0.00004122●●●●●●
558. 112440475 c.4684A>T p.I1562F missense 0.00000824●●●●●●
559. 112440474 c.4685T>C p.I1562T missense 0.00000824●●●●●●
560. 112440465 c.4694T>G p.L1565R missense 0.00004121●●●●●●
561. 112440462 c.4697G>A p.R1566Q missense 0.00008242●●●●●●
562. 112440456 c.4703T>C p.L1568P missense 0.00002472●●●●●●
563. 112440454 c.4705G>C p.E1569Q missense 0.00000824●●●●●●
564. 112440445 c.4714C>T p.L1572F missense 0.00000824●●●●●●
565. 112440438 c.4721C>G p.P1574R missense 0.00000824●●●●●●
566. 112440438 c.4721C>T p.P1574L missense 0.00000824●●●●●●
567. 112440436 c.4723_4725delACT p.Thr1575del inframe 0.00001648●●●●●●
568. 112440411 c.4748G>A p.G1583D missense 0.00000824●●●●●●
569. 112440399 c.4760T>C p.L1587S missense 0.00000824●●●●●●
570. 112440394 c.4765G>A p.G1589S missense 0.00000824●●●●●●
571. 112440387 c.4772C>G p.A1591G missense 0.00000825●●●●●●
572. 112440373 c.4786G>T p.V1596L missense 0.00000825●●●●●●
573. 112439096 c.4806C>G p.N1602K missense 0.00000826●●●●●●
574. 112439068 c.4834A>T p.S1612C missense 0.00000827●●●●●●
575. 112439067 c.4835G>T p.S1612I missense 0.00001653●●●●●●
576. 112439066 c.4836C>A p.S1612R missense 0.00001653●●●●●●
577. 112439053 c.4849A>C p.N1617H missense 0.00004129●●●●●●
578. 112439043 c.4859C>T p.S1620F missense 0.00002474●●●●●●
579. 112439040 c.4862T>G p.I1621S missense 0.00002474●●●●●●
580. 112439029 c.4873T>C p.S1625P missense 0.00000824●●●●●●
581. 112438996 c.4906G>A p.G1636S missense 0.00000824●●●●●●
582. 112438986 c.4916A>G p.E1639G missense 0.00000824●●●●●●
583. 112438977 c.4925C>A p.T1642N missense 0.00000824●●●●●●
584. 112438975 c.4927delT p.Tyr1643ThrfsTer11 frameshift 0.00000824●●●●●●
585. 112438965 c.4937C>T p.T1646I missense 0.00000824●●●●●●
586. 112438959 c.4943delG p.Gly1648GlufsTer6 frameshift 0.00000824●●●●●●
587. 112438956 c.4946G>T p.G1649V missense 0.00004944●●●●●●
588. 112438951 c.4951G>A p.V1651M missense 0.00004120●●●●●●
589. 112438948 c.4954G>T p.V1652F missense 0.00000824●●●●●●
590. 112437194 c.4963G>C p.E1655Q missense 0.00000826●●●●●●
591. 112437190 c.4967C>T p.S1656F missense 0.00001651●●●●●●
592. 112437176 c.4981T>G p.L1661V missense 0.00002474●●●●●●
593. 112437173 c.4984A>G p.K1662E missense 0.00000825●●●●●●
594. 112437148 c.5009G>A p.R1670H missense 0.00009890●●●●●●
595. 112437143 c.5014A>G p.R1672G missense 0.00001648●●●●●●
596. 112437131 c.5026G>A p.G1676R missense 0.00001648●●●●●●
597. 112437127 c.5030C>T p.T1677I missense 0.00000824●●●●●●
598. 112437116 c.5041G>A p.G1681S missense 0.00000824●●●●●●
599. 112437112 c.5045A>T p.H1682L missense 0.00000824●●●●●●
600. 112437085 c.5072T>C p.V1691A missense 0.00000824●●●●●●
601. 112437068 c.5089C>T p.Q1697X nonsense 0.00000824●●●●●●
602. 112435950 c.5101A>G p.K1701E missense 0.00000826●●●●●●
603. 112435938 c.5113G>A p.G1705S missense 0.00000825●●●●●●
604. 112435934 c.5117T>C p.I1706T missense 0.00001651●●●●●●
605. 112435914 c.5137G>A p.V1713I missense 0.00000825●●●●●●
606. 112435913 c.5138T>A p.V1713D missense 0.00000825●●●●●●
607. 112435905 c.5146A>G p.K1716E missense 0.00000825●●●●●●
608. 112435886 c.5165G>A p.G1722D missense 0.00001651●●●●●●
609. 112435865 c.5185+1G>A essential splice site 0.00002478●●●●●●
610. 112435398 c.5186T>C p.V1729A missense 0.00000826●●●●●●
611. 112435392 c.5192G>A p.R1731K missense 0.00000826●●●●●●
612. 112435374 c.5210A>G p.Q1737R missense 0.00000825●●●●●●
613. 112435361 c.5223C>A p.D1741E missense 0.00000825●●●●●●
614. 112435347 c.5237A>G p.H1746R missense 0.00002475●●●●●●
615. 112435338 c.5246G>A p.G1749E missense 0.00000825●●●●●●
616. 112435336 c.5248C>T p.P1750S missense 0.00000825●●●●●●
617. 112435321 c.5263C>T p.P1755S missense 0.00001649●●●●●●
618. 112435303 c.5281C>A p.P1761T missense 0.00001649●●●●●●
619. 112435296 c.5288T>G p.F1763C missense 0.00000825●●●●●●
620. 112435287 c.5297G>A p.G1766D missense 0.00001649●●●●●●
621. 112435279 c.5305G>A p.E1769K missense 0.00004123●●●●●●
622. 112430771 c.5320C>T p.P1774S missense 0.00001649●●●●●●
623. 112430768 c.5323C>G p.R1775G missense 0.00000825●●●●●●
624. 112430767 c.5324G>A p.R1775H missense 0.00004123●●●●●●
625. 112430767 c.5324G>C p.R1775P missense 0.00000825●●●●●●
626. 112430758 c.5333C>A p.P1778H missense 0.00000825●●●●●●
627. 112430735 c.5356A>G p.I1786V missense 0.00001649●●●●●●
628. 112430732 c.5359C>T p.R1787C missense 0.00000825●●●●●●
629. 112430731 c.5360G>A p.R1787H missense 0.00000825●●●●●●
630. 112430729 c.5362C>T p.H1788Y missense 0.00000825●●●●●●
631. 112430719 c.5372T>C p.I1791T missense 0.00002475●●●●●●
632. 112430716 c.5375dupA p.Asp1792GlufsTer9 frameshift 0.00000825●●●●●●
633. 112430714 c.5377G>A p.G1793R missense 0.00000825●●●●●●
634. 112430709 c.5382C>G p.H1794Q missense 0.00000825●●●●●●
635. 112430687 c.5404G>A p.A1802T missense 0.00000825●●●●●●
636. 112430675 c.5416G>A p.G1806S missense 0.00003304●●●●●●
637. 112430669 c.5422G>T p.V1808L missense 0.00000826●●●●●●
638. 112430668 c.5423dupT p.Ser1809LysfsTer11 frameshift 0.00009916●●●●●●
639. 112430664 c.5427C>A p.S1809R missense 0.00000826●●●●●●
640. 112430663 c.5428A>G p.I1810V missense 0.00000826●●●●●●
641. 112430660 c.5431A>G p.N1811D missense 0.00000827●●●●●●
642. 112430659 c.5432A>G p.N1811S missense 0.00000827●●●●●●
643. 112430654 c.5437T>C p.C1813R missense 0.00000827●●●●●●
644. 112430653 c.5438G>A p.C1813Y missense 0.00000827●●●●●●

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

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