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. 112575246 c.107T>C p.I36T missense 0.00008804●●●●●●
2. 112508696 c.901C>T p.H301Y missense 0.00001648●●●●●●
3. 112479938 c.1792A>G p.S598G missense 0.00002473●●●●●●
4. 112462089 c.2828C>T p.P943L missense 0.00002474●●●●●●
5. 112461009 c.3034T>C p.Y1012H missense 0.00007416●●●●●●
6. 112430675 c.5416G>A p.G1806S missense 0.00003304●●●●●●
7. 112438951 c.4951G>A p.V1651M missense 0.00004120●●●●●●
8. 112439040 c.4862T>G p.I1621S missense 0.00002474●●●●●●
9. 112440438 c.4721C>G p.P1574R missense 0.00000824●●●●●●
10. 112441579 c.4551G>C p.L1517F missense 0.00001651●●●●●●
11. 112443256 c.4415G>A p.R1472H missense 0.00009889●●●●●●
12. 112450188 c.4202C>T p.P1401L missense 0.00003303●●●●●●
13. 112457333 c.3385T>C p.Y1129H missense 0.00001651●●●●●●
14. 112460348 c.3235G>A p.G1079S missense 0.00003295●●●●●●
15. 112460438 c.3145G>A p.G1049S missense 0.00001647●●●●●●
16. 112462106 c.2811G>T p.K937N missense 0.00001650●●●●●●
17. 112462654 c.2698G>A p.V900I missense 0.00001649●●●●●●
18. 112463362 c.2605G>A p.E869K missense 0.00003295●●●●●●
19. 112463419 c.2548G>A p.A850T missense 0.00007415●●●●●●
20. 112463420 c.2547G>C p.K849N missense 0.00000824●●●●●●
21. 112469395 c.2296G>A p.A766T missense 0.00001648●●●●●●
22. 112469410 c.2281C>T p.H761Y missense 0.00000824●●●●●●
23. 112471743 c.2122G>T p.A708S missense 0.00001647●●●●●●
24. 112471779 c.2086G>A p.A696T missense 0.00000824●●●●●●
25. 112476119 c.1969T>A p.Y657N missense 0.00000824●●●●●●
26. 112479963 c.1767C>A p.D589E missense 0.00002473●●●●●●
27. 112480036 c.1694T>A p.L565Q missense 0.00000826●●●●●●
28. 112480078 c.1652C>T p.A551V missense 0.00006988●●●●●●
29. 112486396 c.1613G>A p.R538H missense 0.00003295●●●●●●
30. 112493823 c.1520G>A p.R507Q missense 0.00004946●●●●●●
31. 112493842 c.1501G>A p.A501T missense 0.00004120●●●●●●
32. 112496554 c.1297C>T p.R433W missense 0.00003295●●●●●●
33. 112508666 c.931A>G p.I311V missense 0.00001648●●●●●●
34. 112508789 c.808G>A p.V270I missense 0.00005141●●●●●●
35. 112510396 c.730G>A p.G244R missense 0.00000829●●●●●●
36. 112512916 c.640C>T p.R214C missense 0.00003306●●●●●●
37. 112512951 c.605G>A p.C202Y missense 0.00001654●●●●●●
38. 112512978 c.578C>T p.S193L missense 0.00005801●●●●●●
39. 112528289 c.355G>A p.G119R missense 0.00004126●●●●●●
40. 112537612 c.254A>G p.N85S missense 0.00005770●●●●●●
41. 112575331 c.22C>T p.R8C missense 0.00002797●●●●●●
42. 112440462 c.4697G>A p.R1566Q missense 0.00008242●●●●●●
43. 112452297 c.3820G>A p.V1274M missense 0.00000825●●●●●●
44. 112454673 c.3553C>T p.L1185F missense 0.00004946●●●●●●
45. 112457374 c.3344T>C p.L1115P missense 0.00000825●●●●●●
46. 112471797 c.2068C>T p.R690C missense 0.00000824●●●●●●
47. 112506506 c.989T>C p.I330T missense 0.00001648●●●●●●
48. 112508708 c.889G>A p.G297R missense 0.00002472●●●●●●
49. 112512862 c.694G>A p.A232T missense 0.00001667●●●●●●
50. 112537655 c.211T>A p.F71I missense 0.00001652●●●●●●
51. 112437190 c.4967C>T p.S1656F missense 0.00001651●●●●●●
52. 112440483 c.4676G>A p.R1559Q missense 0.00004122●●●●●●
53. 112441623 c.4507T>C p.Y1503H missense 0.00000827●●●●●●
54. 112450240 c.4150T>C p.Y1384H missense 0.00009908●●●●●●
55. 112450242 c.4148G>T p.R1383L missense 0.00001651●●●●●●
56. 112450242 c.4148G>A p.R1383Q missense 0.00000826●●●●●●
57. 112450243 c.4147C>T p.R1383W missense 0.00001651●●●●●●
58. 112454052 c.3716C>T p.A1239V missense 0.00000826●●●●●●
59. 112454586 c.3640C>G p.L1214V missense 0.00008241●●●●●●
60. 112455709 c.3496A>G p.I1166V missense 0.00000826●●●●●●
61. 112457417 c.3301C>T p.H1101Y missense 0.00004126●●●●●●
62. 112461038 c.3005C>A p.A1002D missense 0.00000824●●●●●●
63. 112463393 c.2574G>T p.M858I missense 0.00002471●●●●●●
64. 112466091 c.2377C>T p.R793C missense 0.00008269●●●●●●
65. 112469449 c.2242A>C p.M748L missense 0.00000824●●●●●●
66. 112476892 c.1813G>A p.D605N missense 0.00000824●●●●●●
67. 112479972 c.1758T>G p.H586Q missense 0.00000824●●●●●●
68. 112496541 c.1310A>G p.D437G missense 0.00001647●●●●●●
69. 112496595 c.1256T>C p.M419T missense 0.00009060●●●●●●
70. 112499371 c.1120G>A p.A374T missense 0.00003297●●●●●●
71. 112508786 c.811T>C p.W271R missense 0.00000855●●●●●●
72. 112512880 c.676C>T p.P226S missense 0.00000830●●●●●●
73. 112513035 c.521A>G p.Y174C missense 0.00005971●●●●●●
74. 112522809 c.503G>A p.R168K missense 0.00006591●●●●●●
75. 112430719 c.5372T>C p.I1791T missense 0.00002475●●●●●●
76. 112437176 c.4981T>G p.L1661V missense 0.00002474●●●●●●
77. 112438986 c.4916A>G p.E1639G missense 0.00000824●●●●●●
78. 112439096 c.4806C>G p.N1602K missense 0.00000826●●●●●●
79. 112440394 c.4765G>A p.G1589S missense 0.00000824●●●●●●
80. 112440445 c.4714C>T p.L1572F missense 0.00000824●●●●●●
81. 112440456 c.4703T>C p.L1568P missense 0.00002472●●●●●●
82. 112441528 c.4602G>T p.K1534N missense 0.00000826●●●●●●
83. 112450176 c.4214T>C p.L1405P missense 0.00000826●●●●●●
84. 112451203 c.3987G>C p.K1329N missense 0.00000827●●●●●●
85. 112455708 c.3497T>C p.I1166T missense 0.00003304●●●●●●
86. 112455796 c.3409C>T p.H1137Y missense 0.00000827●●●●●●
87. 112457380 c.3338T>C p.V1113A missense 0.00000825●●●●●●
88. 112457455 c.3263G>T p.S1088I missense 0.00002477●●●●●●
89. 112460491 c.3092A>G p.D1031G missense 0.00000824●●●●●●
90. 112460990 c.3053A>G p.Y1018C missense 0.00000824●●●●●●
91. 112461018 c.3025A>C p.I1009L missense 0.00000824●●●●●●
92. 112463353 c.2614G>C p.D872H missense 0.00001648●●●●●●
93. 112463373 c.2594C>T p.P865L missense 0.00001648●●●●●●
94. 112463385 c.2582C>G p.P861R missense 0.00003295●●●●●●
95. 112466024 c.2444T>C p.I815T missense 0.00001649●●●●●●
96. 112466073 c.2395C>G p.R799G missense 0.00000825●●●●●●
97. 112466100 c.2368G>T p.D790Y missense 0.00000828●●●●●●
98. 112469404 c.2287G>T p.D763Y missense 0.00002472●●●●●●
99. 112469487 c.2204A>G p.N735S missense 0.00003297●●●●●●
100. 112476055 c.2033C>T p.S678F missense 0.00003296●●●●●●
101. 112476094 c.1994T>C p.L665P missense 0.00003296●●●●●●
102. 112476842 c.1863A>C p.E621D missense 0.00000824●●●●●●
103. 112476868 c.1837G>A p.A613T missense 0.00004943●●●●●●
104. 112476883 c.1822G>A p.G608R missense 0.00004120●●●●●●
105. 112476889 c.1816A>G p.M606V missense 0.00002472●●●●●●
106. 112493861 c.1482T>A p.D494E missense 0.00003296●●●●●●
107. 112493941 c.1402C>G p.L468V missense 0.00001651●●●●●●
108. 112493944 c.1399G>A p.V467I missense 0.00008254●●●●●●
109. 112496521 c.1330T>A p.Y444N missense 0.00000824●●●●●●
110. 112496545 c.1306G>A p.V436M missense 0.00000824●●●●●●
111. 112496574 c.1277G>A p.R426H missense 0.00006589●●●●●●
112. 112508690 c.907C>G p.H303D missense 0.00005768●●●●●●
113. 112508729 c.868G>A p.G290R missense 0.00001649●●●●●●
114. 112508780 c.817C>A p.L273M missense 0.00000848●●●●●●
115. 112510336 c.790A>G p.T264A missense 0.00002481●●●●●●
116. 112510369 c.757G>A p.G253R missense 0.00002477●●●●●●
117. 112512889 c.667C>T p.R223C missense 0.00000829●●●●●●
118. 112512925 c.631A>C p.N211H missense 0.00003306●●●●●●
119. 112528252 c.392C>T p.P131L missense 0.00008257●●●●●●
120. 112528309 c.335A>G p.K112R missense 0.00000825●●●●●●
121. 112575162 c.191C>T p.A64V missense 0.00003391●●●●●●
122. 112575165 c.188C>T p.A63V missense 0.00005520●●●●●●
123. 112575190 c.163G>T p.V55L missense 0.00006076●●●●●●
124. 112486463 c.1546G>T p.V516L missense 0.00005767●●●●●●
125. 112460327 c.3256A>G p.N1086D missense 0.00001648●●●●●●
126. 112469481 c.2210C>T p.T737M missense 0.00000824●●●●●●
127. 112443287 c.4384G>A p.A1462T missense 0.00007416●●●●●●
128. 112435347 c.5237A>G p.H1746R missense 0.00002475●●●●●●
129. 112437127 c.5030C>T p.T1677I missense 0.00000824●●●●●●
130. 112439043 c.4859C>T p.S1620F missense 0.00002474●●●●●●
131. 112439053 c.4849A>C p.N1617H missense 0.00004129●●●●●●
132. 112443226 c.4445T>C p.F1482S missense 0.00000824●●●●●●
133. 112452288 c.3829A>G p.I1277V missense 0.00000825●●●●●●
134. 112460356 c.3227C>A p.A1076D missense 0.00000824●●●●●●
135. 112460485 c.3098T>G p.L1033R missense 0.00005769●●●●●●
136. 112461002 c.3041T>A p.F1014Y missense 0.00000824●●●●●●
137. 112461994 c.2923T>C p.F975L missense 0.00000826●●●●●●
138. 112463461 c.2506G>C p.A836P missense 0.00000824●●●●●●
139. 112466118 c.2350G>A p.V784I missense 0.00000837●●●●●●
140. 112469509 c.2182A>G p.R728G missense 0.00001649●●●●●●
141. 112469512 c.2179T>C p.S727P missense 0.00000824●●●●●●
142. 112471718 c.2147A>G p.E716G missense 0.00000824●●●●●●
143. 112471752 c.2113C>T p.L705F missense 0.00000824●●●●●●
144. 112479980 c.1750A>G p.I584V missense 0.00002473●●●●●●
145. 112486471 c.1538A>G p.Q513R missense 0.00000824●●●●●●
146. 112499328 c.1163T>C p.I388T missense 0.00000825●●●●●●
147. 112508765 c.832C>T p.R278W missense 0.00001650●●●●●●
148. 112512873 c.683A>G p.Y228C missense 0.00000831●●●●●●
149. 112537619 c.247G>A p.D83N missense 0.00001649●●●●●●
150. 112575248 c.105C>G p.D35E missense 0.00003497●●●●●●
151. 112575286 c.67C>T p.R23C missense 0.00008823●●●●●●
152. 112430653 c.5438G>A p.C1813Y missense 0.00000827●●●●●●
153. 112430654 c.5437T>C p.C1813R missense 0.00000827●●●●●●
154. 112430659 c.5432A>G p.N1811S missense 0.00000827●●●●●●
155. 112430660 c.5431A>G p.N1811D missense 0.00000827●●●●●●
156. 112430663 c.5428A>G p.I1810V missense 0.00000826●●●●●●
157. 112430664 c.5427C>A p.S1809R missense 0.00000826●●●●●●
158. 112430669 c.5422G>T p.V1808L missense 0.00000826●●●●●●
159. 112430687 c.5404G>A p.A1802T missense 0.00000825●●●●●●
160. 112430709 c.5382C>G p.H1794Q missense 0.00000825●●●●●●
161. 112430714 c.5377G>A p.G1793R missense 0.00000825●●●●●●
162. 112430729 c.5362C>T p.H1788Y missense 0.00000825●●●●●●
163. 112430731 c.5360G>A p.R1787H missense 0.00000825●●●●●●
164. 112430732 c.5359C>T p.R1787C missense 0.00000825●●●●●●
165. 112430735 c.5356A>G p.I1786V missense 0.00001649●●●●●●
166. 112430758 c.5333C>A p.P1778H missense 0.00000825●●●●●●
167. 112430767 c.5324G>A p.R1775H missense 0.00004123●●●●●●
168. 112430767 c.5324G>C p.R1775P missense 0.00000825●●●●●●
169. 112430768 c.5323C>G p.R1775G missense 0.00000825●●●●●●
170. 112430771 c.5320C>T p.P1774S missense 0.00001649●●●●●●
171. 112435279 c.5305G>A p.E1769K missense 0.00004123●●●●●●
172. 112435287 c.5297G>A p.G1766D missense 0.00001649●●●●●●
173. 112435296 c.5288T>G p.F1763C missense 0.00000825●●●●●●
174. 112435303 c.5281C>A p.P1761T missense 0.00001649●●●●●●
175. 112435321 c.5263C>T p.P1755S missense 0.00001649●●●●●●
176. 112435336 c.5248C>T p.P1750S missense 0.00000825●●●●●●
177. 112435338 c.5246G>A p.G1749E missense 0.00000825●●●●●●
178. 112435361 c.5223C>A p.D1741E missense 0.00000825●●●●●●
179. 112435374 c.5210A>G p.Q1737R missense 0.00000825●●●●●●
180. 112435392 c.5192G>A p.R1731K missense 0.00000826●●●●●●
181. 112435398 c.5186T>C p.V1729A missense 0.00000826●●●●●●
182. 112435886 c.5165G>A p.G1722D missense 0.00001651●●●●●●
183. 112435905 c.5146A>G p.K1716E missense 0.00000825●●●●●●
184. 112435913 c.5138T>A p.V1713D missense 0.00000825●●●●●●
185. 112435914 c.5137G>A p.V1713I missense 0.00000825●●●●●●
186. 112435934 c.5117T>C p.I1706T missense 0.00001651●●●●●●
187. 112435938 c.5113G>A p.G1705S missense 0.00000825●●●●●●
188. 112435950 c.5101A>G p.K1701E missense 0.00000826●●●●●●
189. 112437085 c.5072T>C p.V1691A missense 0.00000824●●●●●●
190. 112437112 c.5045A>T p.H1682L missense 0.00000824●●●●●●
191. 112437116 c.5041G>A p.G1681S missense 0.00000824●●●●●●
192. 112437131 c.5026G>A p.G1676R missense 0.00001648●●●●●●
193. 112437143 c.5014A>G p.R1672G missense 0.00001648●●●●●●
194. 112437148 c.5009G>A p.R1670H missense 0.00009890●●●●●●
195. 112437173 c.4984A>G p.K1662E missense 0.00000825●●●●●●
196. 112437194 c.4963G>C p.E1655Q missense 0.00000826●●●●●●
197. 112438948 c.4954G>T p.V1652F missense 0.00000824●●●●●●
198. 112438956 c.4946G>T p.G1649V missense 0.00004944●●●●●●
199. 112438965 c.4937C>T p.T1646I missense 0.00000824●●●●●●
200. 112438977 c.4925C>A p.T1642N missense 0.00000824●●●●●●
201. 112438996 c.4906G>A p.G1636S missense 0.00000824●●●●●●
202. 112439029 c.4873T>C p.S1625P missense 0.00000824●●●●●●
203. 112439066 c.4836C>A p.S1612R missense 0.00001653●●●●●●
204. 112439067 c.4835G>T p.S1612I missense 0.00001653●●●●●●
205. 112439068 c.4834A>T p.S1612C missense 0.00000827●●●●●●
206. 112440373 c.4786G>T p.V1596L missense 0.00000825●●●●●●
207. 112440387 c.4772C>G p.A1591G missense 0.00000825●●●●●●
208. 112440399 c.4760T>C p.L1587S missense 0.00000824●●●●●●
209. 112440411 c.4748G>A p.G1583D missense 0.00000824●●●●●●
210. 112440438 c.4721C>T p.P1574L missense 0.00000824●●●●●●
211. 112440454 c.4705G>C p.E1569Q missense 0.00000824●●●●●●
212. 112440465 c.4694T>G p.L1565R missense 0.00004121●●●●●●
213. 112440474 c.4685T>C p.I1562T missense 0.00000824●●●●●●
214. 112440475 c.4684A>T p.I1562F missense 0.00000824●●●●●●
215. 112440499 c.4660G>A p.E1554K missense 0.00000825●●●●●●
216. 112440501 c.4658G>A p.R1553Q missense 0.00003301●●●●●●
217. 112440501 c.4658G>C p.R1553P missense 0.00000825●●●●●●
218. 112440504 c.4655T>C p.I1552T missense 0.00002476●●●●●●
219. 112440511 c.4648A>G p.I1550V missense 0.00000826●●●●●●
220. 112441499 c.4631G>A p.G1544D missense 0.00003305●●●●●●
221. 112441502 c.4628A>G p.D1543G missense 0.00001652●●●●●●
222. 112441505 c.4625A>T p.N1542I missense 0.00000826●●●●●●
223. 112441535 c.4595A>T p.K1532I missense 0.00002477●●●●●●
224. 112441550 c.4580A>G p.N1527S missense 0.00000825●●●●●●
225. 112441552 c.4578T>A p.F1526L missense 0.00000825●●●●●●
226. 112441557 c.4573A>G p.M1525V missense 0.00000825●●●●●●
227. 112441563 c.4567G>A p.V1523I missense 0.00000825●●●●●●
228. 112441568 c.4562G>A p.R1521H missense 0.00002477●●●●●●
229. 112441568 c.4562G>T p.R1521L missense 0.00001651●●●●●●
230. 112441569 c.4561C>T p.R1521C missense 0.00003303●●●●●●
231. 112441572 c.4558G>A p.G1520S missense 0.00000826●●●●●●
232. 112441601 c.4529A>G p.N1510S missense 0.00000826●●●●●●
233. 112441622 c.4508A>T p.Y1503F missense 0.00000827●●●●●●
234. 112441632 c.4498A>G p.M1500V missense 0.00000828●●●●●●
235. 112441646 c.4484G>A p.R1495H missense 0.00004153●●●●●●
236. 112441659 c.4471C>T p.R1491C missense 0.00000836●●●●●●
237. 112441669 c.4461G>T p.Q1487H missense 0.00000844●●●●●●
238. 112443246 c.4425T>G p.F1475L missense 0.00000824●●●●●●
239. 112443286 c.4385C>G p.A1462G missense 0.00000824●●●●●●
240. 112443346 c.4325G>A p.R1442Q missense 0.00004123●●●●●●
241. 112443347 c.4324C>T p.R1442W missense 0.00001649●●●●●●
242. 112443356 c.4315C>A p.L1439I missense 0.00000825●●●●●●
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486. 112496517 c.1334A>G p.E445G missense 0.00000824●●●●●●
487. 112496554 c.1297C>G p.R433G missense 0.00001647●●●●●●
488. 112496559 c.1292C>G p.T431S missense 0.00000824●●●●●●
489. 112496560 c.1291A>G p.T431A missense 0.00004942●●●●●●
490. 112496562 c.1289T>C p.F430S missense 0.00001647●●●●●●
491. 112496596 c.1255A>T p.M419L missense 0.00000824●●●●●●
492. 112496597 c.1254G>T p.K418N missense 0.00003295●●●●●●
493. 112496630 c.1221G>T p.K407N missense 0.00000824●●●●●●
494. 112496631 c.1220A>G p.K407R missense 0.00000824●●●●●●
495. 112496659 c.1192T>C p.Y398H missense 0.00000824●●●●●●
496. 112496661 c.1190A>G p.Y397C missense 0.00000824●●●●●●
497. 112499341 c.1150A>G p.M384V missense 0.00000824●●●●●●
498. 112499346 c.1145A>G p.H382R missense 0.00001649●●●●●●
499. 112499354 c.1137G>T p.E379D missense 0.00000824●●●●●●
500. 112499363 c.1128G>C p.Q376H missense 0.00000824●●●●●●
501. 112499364 c.1127A>G p.Q376R missense 0.00000824●●●●●●
502. 112499372 c.1119C>A p.H373Q missense 0.00000824●●●●●●
503. 112499379 c.1112T>C p.I371T missense 0.00000824●●●●●●
504. 112499385 c.1106A>G p.D369G missense 0.00000825●●●●●●
505. 112499390 c.1101C>A p.S367R missense 0.00000825●●●●●●
506. 112499404 c.1087G>T p.V363F missense 0.00000826●●●●●●
507. 112499421 c.1070C>T p.S357F missense 0.00000833●●●●●●
508. 112499425 c.1066G>A p.A356T missense 0.00000838●●●●●●
509. 112506451 c.1044A>T p.E348D missense 0.00000824●●●●●●
510. 112506454 c.1041G>C p.E347D missense 0.00000824●●●●●●
511. 112506459 c.1036G>A p.V346I missense 0.00004119●●●●●●
512. 112506479 c.1016T>C p.M339T missense 0.00000824●●●●●●
513. 112506482 c.1013C>A p.T338K missense 0.00000824●●●●●●
514. 112506482 c.1013C>T p.T338M missense 0.00001648●●●●●●
515. 112506494 c.1001A>G p.N334S missense 0.00000824●●●●●●
516. 112506498 c.997A>C p.N333H missense 0.00000824●●●●●●
517. 112506498 c.997A>G p.N333D missense 0.00000824●●●●●●
518. 112506518 c.977C>T p.A326V missense 0.00000824●●●●●●
519. 112506519 c.976G>A p.A326T missense 0.00009885●●●●●●
520. 112506519 c.976G>T p.A326S missense 0.00000824●●●●●●
521. 112506528 c.967A>T p.N323Y missense 0.00000824●●●●●●
522. 112506530 c.965A>G p.E322G missense 0.00000824●●●●●●
523. 112506534 c.961A>G p.R321G missense 0.00000824●●●●●●
524. 112506536 c.959A>G p.E320G missense 0.00000824●●●●●●
525. 112506537 c.958G>A p.E320K missense 0.00000824●●●●●●
526. 112508671 c.926C>T p.A309V missense 0.00000824●●●●●●
527. 112508672 c.925G>A p.A309T missense 0.00000824●●●●●●
528. 112508687 c.910G>A p.V304M missense 0.00001648●●●●●●
529. 112508692 c.905G>A p.R302K missense 0.00000824●●●●●●
530. 112508699 c.898G>A p.A300T missense 0.00001648●●●●●●
531. 112508702 c.895G>A p.A299T missense 0.00001648●●●●●●
532. 112508705 c.892G>A p.A298T missense 0.00000824●●●●●●
533. 112508719 c.878G>A p.S293N missense 0.00007417●●●●●●
534. 112508743 c.854A>T p.E285V missense 0.00000824●●●●●●
535. 112508744 c.853G>A p.E285K missense 0.00006595●●●●●●
536. 112508745 c.852C>G p.I284M missense 0.00000824●●●●●●
537. 112508746 c.851T>C p.I284T missense 0.00000824●●●●●●
538. 112508750 c.847T>C p.S283P missense 0.00000824●●●●●●
539. 112508750 c.847T>G p.S283A missense 0.00000824●●●●●●
540. 112508770 c.827C>G p.A276G missense 0.00000824●●●●●●
541. 112508800 c.797G>A p.C266Y missense 0.00000882●●●●●●
542. 112510350 c.776G>A p.G259D missense 0.00000826●●●●●●
543. 112510389 c.737G>C p.G246A missense 0.00001654●●●●●●
544. 112510389 c.737G>A p.G246D missense 0.00001654●●●●●●
545. 112510393 c.733G>A p.G245R missense 0.00000828●●●●●●
546. 112510404 c.722G>C p.C241S missense 0.00000831●●●●●●
547. 112512857 c.699G>T p.R233S missense 0.00000835●●●●●●
548. 112512862 c.694G>T p.A232S missense 0.00001667●●●●●●
549. 112512870 c.686A>C p.Y229S missense 0.00001662●●●●●●
550. 112512883 c.673G>C p.A225P missense 0.00006636●●●●●●
551. 112512883 c.673G>A p.A225T missense 0.00002488●●●●●●
552. 112512904 c.652G>A p.G218R missense 0.00001656●●●●●●
553. 112512939 c.617C>G p.T206S missense 0.00000827●●●●●●
554. 112512984 c.572G>A p.G191E missense 0.00003318●●●●●●
555. 112512990 c.566G>T p.C189F missense 0.00000830●●●●●●
556. 112512994 c.562G>T p.D188Y missense 0.00000830●●●●●●
557. 112513009 c.547A>G p.T183A missense 0.00002502●●●●●●
558. 112513026 c.530C>G p.P177R missense 0.00001683●●●●●●
559. 112513030 c.526A>G p.N176D missense 0.00000845●●●●●●
560. 112522837 c.475G>A p.E159K missense 0.00000824●●●●●●
561. 112522851 c.461G>A p.R154Q missense 0.00000824●●●●●●
562. 112522857 c.455C>T p.A152V missense 0.00000824●●●●●●
563. 112522864 c.448A>T p.N150Y missense 0.00001649●●●●●●
564. 112522889 c.423T>G p.N141K missense 0.00000825●●●●●●
565. 112528225 c.419C>T p.A140V missense 0.00001654●●●●●●
566. 112528226 c.418G>A p.A140T missense 0.00000827●●●●●●
567. 112528232 c.412C>T p.H138Y missense 0.00000826●●●●●●
568. 112528240 c.404C>T p.P135L missense 0.00000826●●●●●●
569. 112528249 c.395G>C p.C132S missense 0.00000826●●●●●●
570. 112528252 c.392C>A p.P131Q missense 0.00000826●●●●●●
571. 112528274 c.370G>C p.G124R missense 0.00004952●●●●●●
572. 112528275 c.369G>T p.R123S missense 0.00002476●●●●●●
573. 112528277 c.367A>G p.R123G missense 0.00000825●●●●●●
574. 112528298 c.346G>A p.G116S missense 0.00000825●●●●●●
575. 112528301 c.343G>C p.D115H missense 0.00003300●●●●●●
576. 112528301 c.343G>A p.D115N missense 0.00000825●●●●●●
577. 112528324 c.320G>A p.G107E missense 0.00000825●●●●●●
578. 112528336 c.308G>T p.R103L missense 0.00000825●●●●●●
579. 112528337 c.307C>G p.R103G missense 0.00004950●●●●●●
580. 112537579 c.287G>A p.G96E missense 0.00000824●●●●●●
581. 112537597 c.269A>G p.E90G missense 0.00000824●●●●●●
582. 112537598 c.268G>A p.E90K missense 0.00000824●●●●●●
583. 112537600 c.266A>G p.N89S missense 0.00000824●●●●●●
584. 112537619 c.247G>C p.D83H missense 0.00000824●●●●●●
585. 112537642 c.224T>C p.L75P missense 0.00000825●●●●●●
586. 112537645 c.221C>A p.T74N missense 0.00002475●●●●●●
587. 112537651 c.215T>C p.F72S missense 0.00002476●●●●●●
588. 112537663 c.203A>G p.N68S missense 0.00001655●●●●●●
589. 112537664 c.202A>G p.N68D missense 0.00001657●●●●●●
590. 112575181 c.172G>A p.G58R missense 0.00001950●●●●●●
591. 112575193 c.160C>T p.R54C missense 0.00002023●●●●●●
592. 112575200 c.153C>A p.S51R missense 0.00002045●●●●●●
593. 112575241 c.112G>A p.G38R missense 0.00007314●●●●●●
594. 112575255 c.98C>T p.P33L missense 0.00001645●●●●●●
595. 112575261 c.92C>T p.A31V missense 0.00001567●●●●●●
596. 112575264 c.89A>G p.N30S missense 0.00001498●●●●●●
597. 112575286 c.67C>G p.R23G missense 0.00001103●●●●●●
598. 112575290 c.63C>G p.C21W missense 0.00001067●●●●●●
599. 112575313 c.40T>C p.W14R missense 0.00001916●●●●●●
600. 112575331 c.22C>A p.R8S missense 0.00000932●●●●●●
601. 112575342 c.11G>A p.S4N missense 0.00000923●●●●●●
602. 112460366 c.3217C>T p.R1073X nonsense 0.00000824●●●●●●
603. 112466034 c.2434C>T p.R812X nonsense 0.00001649●●●●●●
604. 112528305 c.339T>A p.C113X nonsense 0.00000825●●●●●●
605. 112437068 c.5089C>T p.Q1697X nonsense 0.00000824●●●●●●
606. 112441518 c.4612C>T p.Q1538X nonsense 0.00000826●●●●●●
607. 112441580 c.4550T>A p.L1517X nonsense 0.00000826●●●●●●
608. 112443321 c.4350C>A p.C1450X nonsense 0.00000824●●●●●●
609. 112452217 c.3900C>A p.Y1300X nonsense 0.00001651●●●●●●
610. 112460955 c.3088C>T p.R1030X nonsense 0.00000824●●●●●●
611. 112466073 c.2395C>T p.R799X nonsense 0.00000825●●●●●●
612. 112469515 c.2176C>T p.Q726X nonsense 0.00000825●●●●●●
613. 112476778 c.1927C>T p.R643X nonsense 0.00000824●●●●●●
614. 112480034 c.1696C>T p.Q566X nonsense 0.00000825●●●●●●
615. 112493907 c.1436C>A p.S479X nonsense 0.00000824●●●●●●
616. 112522814 c.498T>A p.C166X nonsense 0.00000824●●●●●●
617. 112435865 c.5185+1G>A essential splice site 0.00002478●●●●●●
618. 112522807 c.503+2T>C essential splice site 0.00000824●●●●●●
619. 112440516 c.4645-2A>C essential splice site 0.00000826●●●●●●
620. 112450122 c.4266+2T>G essential splice site 0.00000828●●●●●●
621. 112451077 c.4112+1G>C essential splice site 0.00002960●●●●●●
622. 112453954 c.3813+1G>T essential splice site 0.00000839●●●●●●
623. 112460321 c.3261+1G>T essential splice site 0.00000824●●●●●●
624. 112508805 c.794-2A>C essential splice site 0.00003578●●●●●●
625. 112510408 c.719-1G>A essential splice site 0.00000834●●●●●●
626. 112513054 c.504-2A>G essential splice site 0.00001832●●●●●●
627. 112450131 c.4259delA p.N1420Ifs*18 frameshift 0.00000828●●●●●●
628. 112486436 c.1573_1574delAT p.M525Vfs*20 frameshift 0.00000824●●●●●●
629. 112430668 c.5423dupT p.Ser1809LysfsTer11 frameshift 0.00009916●●●●●●
630. 112430716 c.5375dupA p.Asp1792GlufsTer9 frameshift 0.00000825●●●●●●
631. 112438959 c.4943delG p.Gly1648GlufsTer6 frameshift 0.00000824●●●●●●
632. 112438975 c.4927delT p.Tyr1643ThrfsTer11 frameshift 0.00000824●●●●●●
633. 112452303 c.3814_3817delTCAG p.Ser1272ThrfsTer16 frameshift 0.00000825●●●●●●
634. 112454554 c.3672_3675delACTT p.Leu1225TyrfsTer63 frameshift 0.00000824●●●●●●
635. 112469401 c.2290delT p.Ser764LeufsTer8 frameshift 0.00000824●●●●●●
636. 112469448 c.2243dupT p.Met748IlefsTer16 frameshift 0.00000824●●●●●●
637. 112506521 c.974_975insA p.Tyr325Ter frameshift 0.00000824●●●●●●
638. 112522841 c.471dupT p.Asn158Ter frameshift 0.00000824●●●●●●
639. 112528342 c.302_303delGC p.Cys101SerfsTer10 frameshift 0.00000825●●●●●●
640. 112537605 c.261_262dupTT p.Ser88PhefsTer111 frameshift 0.00001648●●●●●●
641. 112575345 c.8dupT p.Leu3PhefsTer33 frameshift 0.00000921●●●●●●
642. 112440436 c.4723_4725delACT p.Thr1575del inframe 0.00001648●●●●●●
643. 112493927 c.1416_1421dupTGACTA p.Asp473_Tyr474dup inframe 0.00007422●●●●●●
644. 112510353 c.773_775delAAG p.Glu258del inframe 0.00001652●●●●●●

* 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.