LDB3 variants in ExAC

LDB3 gene summary
LDB3 variants in DCM

The table below lists the LDB3 variants found in the ExAC population database. Click on each variant for more details, including presence in the 1000 Genomes and Exome Sequencing Project databases, a breakdown by ethnic class and the variant's role in inherited cardiac disease. Use the form below to customise the variant selection. The table can be sorted by variant location, variant type or ExAC frequency.




No. Genomic coord.✝ Variant (CDS)▼ Variant (Protein) Variant Type▼ ExAC frequency▼Populations*
1. 88439193 c.163G>A p.V55I missense 0.00722224●●●●●●
2. 88478529 c.1903G>A p.V635I missense 0.00698874●●●●●●
3. 88451715 c.752A>G p.K251R missense 0.00664512●●●●●●
4. 88441223 c.352G>A p.V118M missense 0.00462955●●●●●●
5. 88439895 c.302C>T p.P101L missense 0.00314283●●●●●●
6. 88451649 c.690-4A>G splice site 0.00235880●●●●●●
7. 88441570 c.689+10G>A splice site 0.00147331●●●●●●
8. 88439888 c.295C>T p.P99S missense 0.00080127●●●●●●
9. 88441337 c.466G>A p.A156T missense 0.00067197●●●●●●
10. 88476312 c.1460G>A p.R487H missense 0.00065289●●●●●●
11. 88469687 c.1111G>A p.A371T missense 0.00063088●●●●●●
12. 88476387 c.1535A>C p.Q512P missense 0.00062910●●●●●●
13. 88476524 c.1672A>G p.I558V missense 0.00060161●●●●●●
14. 88441437 c.566C>T p.S189L missense 0.00057078●●●●●●
15. 88466442 c.1051A>G p.T351A missense 0.00051044●●●●●●
16. 88441535 c.664G>A p.A222T missense 0.00040299●●●●●●
17. 88476446 c.1594G>C p.A532P missense 0.00038602●●●●●●
18. 88486007 c.2092G>A p.A698T missense 0.00030864●●●●●●
19. 88441364 c.493C>T p.R165W missense 0.00025954●●●●●●
20. 88441258 c.387_395dupCCCAGGCAC p.Pro130_Thr132dup inframe 0.00022314●●●●●●
21. 88476414 c.1562A>G p.Y521C missense 0.00021605●●●●●●
22. 88466433 c.1042G>A p.A348T missense 0.00019926●●●●●●
23. 88469801 c.1225C>A p.Q409K missense 0.00019528●●●●●●
24. 88451678 c.715G>A p.V239I missense 0.00018140●●●●●●
25. 88441431 c.560C>T p.P187L missense 0.00017658●●●●●●
26. 88485932 c.2017G>A p.D673N missense 0.00017304●●●●●●
27. 88469681 c.1105A>G p.S369G missense 0.00017023●●●●●●
28. 88476458 c.1606G>A p.V536I missense 0.00013574●●●●●●
29. 88451757 c.794G>A p.R265H missense 0.00013194●●●●●●
30. 88466436 c.1045T>A p.S349T missense 0.00013059●●●●●●
31. 88441313 c.442C>T p.R148W missense 0.00012885●●●●●●
32. 88476105 c.1253C>G p.P418R missense 0.00012533●●●●●●
33. 88451756 c.793C>T p.R265C missense 0.00012370●●●●●●
34. 88466440 c.1049C>T p.T350I missense 0.00012237●●●●●●
35. 88476231 c.1379C>T p.A460V missense 0.00011717●●●●●●
36. 88477741 c.1697T>G p.M566R missense 0.00011541●●●●●●
37. 88441401 c.530C>T p.A177V missense 0.00011101●●●●●●
38. 88476116 c.1264G>A p.A422T missense 0.00010882●●●●●●
39. 88441481 c.610G>A p.A204T missense 0.00010122●●●●●●
40. 88428495 c.47G>A p.R16H missense 0.00010001●●●●●●
41. 88476492 c.1640G>A p.R547Q missense 0.00009751●●●●●●
42. 88466427 c.1036G>A p.A346T missense 0.00009476●●●●●●
43. 88466383 c.992C>T p.A331V missense 0.00009239●●●●●●
44. 88476282 c.1430A>G p.Y477C missense 0.00009100●●●●●●
45. 88477867 c.1823C>T p.P608L missense 0.00009061●●●●●●
46. 88441421 c.550A>G p.K184E missense 0.00008435●●●●●●
47. 88476164 c.1312A>G p.T438A missense 0.00008327●●●●●●
48. 88476263 c.1411C>T p.P471S missense 0.00008286●●●●●●
49. 88476294 c.1442C>G p.P481R missense 0.00008270●●●●●●
50. 88476339 c.1487T>C p.F496S missense 0.00008264●●●●●●
51. 88476527 c.1675C>T p.R559W missense 0.00008256●●●●●●
52. 88441215 c.344G>A p.G115D missense 0.00007732●●●●●●
53. 88466346 c.955G>A p.A319T missense 0.00007544●●●●●●
54. 88476287 c.1435G>A p.G479R missense 0.00007445●●●●●●
55. 88476189 c.1337C>A p.T446N missense 0.00007335●●●●●●
56. 88466466 c.1075G>A p.D359N missense 0.00006983●●●●●●
57. 88441397 c.526G>A p.G176R missense 0.00006840●●●●●●
58. 88441403 c.532C>G p.R178G missense 0.00006825●●●●●●
59. 88476491 c.1639C>T p.R547W missense 0.00006774●●●●●●
60. 88478536 c.1910C>T p.A637V missense 0.00006594●●●●●●
61. 88492699 c.2150T>G p.L717R missense 0.00006163●●●●●●
62. 88428539 c.91C>T p.R31W missense 0.00005898●●●●●●
63. 88441452 c.581A>T p.Q194L missense 0.00005846●●●●●●
64. 88451732 c.769G>C p.E257Q missense 0.00005771●●●●●●
65. 88478530 c.1904T>G p.V635G missense 0.00005769●●●●●●
66. 88441547 c.676G>A p.G226R missense 0.00005316●●●●●●
67. 88441527 c.656G>A p.R219Q missense 0.00005228●●●●●●
68. 88485965 c.2050G>A p.E684K missense 0.00004945●●●●●●
69. 88477842 c.1798C>T p.R600X nonsense 0.00004942●●●●●●
70. 88476506 c.1654G>A p.G552S missense 0.00004447●●●●●●
71. 88466392 c.1001C>A p.P334Q missense 0.00004202●●●●●●
72. 88466335 c.944C>T p.P315L missense 0.00004190●●●●●●
73. 88451687 c.724G>A p.A242T missense 0.00004123●●●●●●
74. 88439190 c.160G>A p.G54S missense 0.00004122●●●●●●
75. 88478474 c.1858-10T>C splice site 0.00004122●●●●●●
76. 88476165 c.1313C>A p.T438N missense 0.00003831●●●●●●
77. 88492723 c.2174T>C p.I725T missense 0.00003703●●●●●●
78. 88441539 c.668C>T p.S223L missense 0.00003519●●●●●●
79. 88441526 c.655C>T p.R219X nonsense 0.00003486●●●●●●
80. 88441340 c.469G>C p.E157Q missense 0.00003448●●●●●●
81. 88441278 c.407C>T p.P136L missense 0.00003433●●●●●●
82. 88441258 c.387_395delCCCAGGCAC p.Pro130_Thr132del inframe 0.00003433●●●●●●
83. 88441269 c.398C>T p.P133L missense 0.00003433●●●●●●
84. 88441404 c.533G>A p.R178Q missense 0.00003408●●●●●●
85. 88466409 c.1018G>C p.A340P missense 0.00003373●●●●●●
86. 88466278 c.897-10G>A splice site 0.00003363●●●●●●
87. 88466296 c.905T>C p.I302T missense 0.00003355●●●●●●
88. 88428502 c.54G>T p.Q18H missense 0.00003337●●●●●●
89. 88478598 c.1972G>A p.E658K missense 0.00003311●●●●●●
90. 88476324 c.1472T>A p.V491E missense 0.00003305●●●●●●
91. 88478583 c.1957G>A p.G653R missense 0.00003303●●●●●●
92. 88439873 c.280C>A p.P94T missense 0.00003299●●●●●●
93. 88439865 c.272C>T p.T91M missense 0.00003299●●●●●●
94. 88485941 c.2026G>A p.V676M missense 0.00003296●●●●●●
95. 88477747 c.1703G>A p.R568H missense 0.00003296●●●●●●
96. 88477843 c.1799G>A p.R600Q missense 0.00003295●●●●●●
97. 88476528 c.1676G>A p.R559Q missense 0.00002780●●●●●●
98. 88492723 c.2174T>A p.I725N missense 0.00002778●●●●●●
99. 88441517 c.646A>T p.M216L missense 0.00002596●●●●●●
100. 88441365 c.494G>A p.R165Q missense 0.00002590●●●●●●
101. 88441214 c.343G>C p.G115R missense 0.00002577●●●●●●
102. 88441209 c.338C>T p.T113M missense 0.00002577●●●●●●
103. 88441283 c.412C>G p.L138V missense 0.00002574●●●●●●
104. 88441415 c.544G>A p.G182S missense 0.00002538●●●●●●
105. 88441479 c.608C>T p.S203L missense 0.00002530●●●●●●
106. 88466398 c.1007delT p.Leu336ArgfsTer156 frameshift 0.00002522●●●●●●
107. 88428461 c.13_14insTGACCC p.Val5_Thr6insThrLeu inframe 0.00002498●●●●●●
108. 88476255 c.1403A>G p.N468S missense 0.00002488●●●●●●
109. 88451808 c.845C>T p.T282M missense 0.00002486●●●●●●
110. 88476381 c.1529G>A p.S510N missense 0.00002482●●●●●●
111. 88476297 c.1445C>T p.A482V missense 0.00002481●●●●●●
112. 88476354 c.1502C>T p.A501V missense 0.00002479●●●●●●
113. 88476338 c.1486T>G p.F496V missense 0.00002479●●●●●●
114. 88451780 c.817C>T p.R273C missense 0.00002476●●●●●●
115. 88485989 c.2074G>A p.D692N missense 0.00002476●●●●●●
116. 88439846 c.253C>T p.R85C missense 0.00002474●●●●●●
117. 88477740 c.1696A>G p.M566V missense 0.00002473●●●●●●
118. 88439175 c.145G>A p.V49M missense 0.00002473●●●●●●
119. 88439175 c.145G>C p.V49L missense 0.00002473●●●●●●
120. 88477758 c.1714C>A p.P572T missense 0.00002472●●●●●●
121. 88452319 c.887G>A p.R296Q missense 0.00002471●●●●●●
122. 88452285 c.860-7C>T splice site 0.00002471●●●●●●
123. 88477830 c.1786G>A p.V596I missense 0.00002471●●●●●●
124. 88476168 c.1316C>T p.P439L missense 0.00002106●●●●●●
125. 88476164 c.1312A>C p.T438P missense 0.00002082●●●●●●
126. 88476173 c.1321C>T p.P441S missense 0.00002011●●●●●●
127. 88476140 c.1288A>G p.T430A missense 0.00001807●●●●●●
128. 88469796 c.1220T>C p.V407A missense 0.00001765●●●●●●
129. 88492675 c.2126T>C p.F709S missense 0.00001763●●●●●●
130. 88492683 c.2134_2136delAAG p.Lys712del inframe 0.00001756●●●●●●
131. 88476141 c.1289C>T p.T430I missense 0.00001755●●●●●●
132. 88441362 c.491C>T p.P164L missense 0.00001731●●●●●●
133. 88441379 c.508G>A p.A170T missense 0.00001720●●●●●●
134. 88441229 c.358C>A p.P120T missense 0.00001719●●●●●●
135. 88441322 c.451G>A p.A151T missense 0.00001719●●●●●●
136. 88441239 c.368G>A p.S123N missense 0.00001718●●●●●●
137. 88441314 c.443G>A p.R148Q missense 0.00001718●●●●●●
138. 88441244 c.373G>A p.E125K missense 0.00001718●●●●●●
139. 88441266 c.395C>T p.T132I missense 0.00001718●●●●●●
140. 88441199 c.328G>A p.A110T missense 0.00001716●●●●●●
141. 88441293 c.422C>T p.T141I missense 0.00001714●●●●●●
142. 88441396 c.525G>C p.E175D missense 0.00001711●●●●●●
143. 88469691 c.1115T>C p.V372A missense 0.00001705●●●●●●
144. 88469706 c.1130C>T p.A377V missense 0.00001702●●●●●●
145. 88441486 c.615G>C p.E205D missense 0.00001695●●●●●●
146. 88441431 c.560C>A p.P187Q missense 0.00001682●●●●●●
147. 88466382 c.991G>A p.A331T missense 0.00001680●●●●●●
148. 88439915 c.321+1G>A essential splice site 0.00001679●●●●●●
149. 88466305 c.914C>A p.A305E missense 0.00001677●●●●●●
150. 88466331 c.940A>G p.T314A missense 0.00001676●●●●●●
151. 88441446 c.575C>T p.P192L missense 0.00001672●●●●●●
152. 88476108 c.1256C>A p.S419Y missense 0.00001672●●●●●●
153. 88476234 c.1382A>C p.Y461S missense 0.00001671●●●●●●
154. 88441453 c.582A>C p.Q194H missense 0.00001670●●●●●●
155. 88428504 c.56G>C p.G19A missense 0.00001668●●●●●●
156. 88428461 c.13G>A p.V5M missense 0.00001665●●●●●●
157. 88476398 c.1546C>T p.R516W missense 0.00001658●●●●●●
158. 88476399 c.1547G>A p.R516Q missense 0.00001658●●●●●●
159. 88477720 c.1677-1G>A essential splice site 0.00001655●●●●●●
160. 88476372 c.1520C>A p.T507N missense 0.00001654●●●●●●
161. 88476345 c.1493A>G p.Q498R missense 0.00001653●●●●●●
162. 88478583 c.1957G>C p.G653R missense 0.00001652●●●●●●
163. 88451792 c.829A>T p.I277F missense 0.00001652●●●●●●
164. 88439889 c.296C>T p.P99L missense 0.00001652●●●●●●
165. 88439874 c.281C>T p.P94L missense 0.00001650●●●●●●
166. 88439835 c.246-4A>G splice site 0.00001650●●●●●●
167. 88439831 c.246-8T>A splice site 0.00001650●●●●●●
168. 88451760 c.797G>A p.R266H missense 0.00001649●●●●●●
169. 88485915 c.2000C>T p.T667I missense 0.00001649●●●●●●
170. 88451676 c.713C>A p.A238D missense 0.00001649●●●●●●
171. 88439847 c.254G>A p.R85H missense 0.00001649●●●●●●
172. 88478511 c.1885T>C p.W629R missense 0.00001648●●●●●●
173. 88477888 c.1844C>G p.T615S missense 0.00001648●●●●●●
174. 88477833 c.1789T>A p.Y597N missense 0.00001647●●●●●●
175. 88476535 c.1676+7T>C splice site 0.00001514●●●●●●
176. 88476533 c.1676+5G>T splice site 0.00001473●●●●●●
177. 88476519 c.1667A>G p.N556S missense 0.00001248●●●●●●
178. 88476507 c.1655G>T p.G552V missense 0.00001116●●●●●●
179. 88476506 c.1654G>C p.G552R missense 0.00001112●●●●●●
180. 88476489 c.1637G>A p.S546N missense 0.00000957●●●●●●
181. 88466457 c.1066A>C p.S356R missense 0.00000933●●●●●●
182. 88492651 c.2102A>G p.H701R missense 0.00000928●●●●●●
183. 88492653 c.2104G>T p.V702L missense 0.00000923●●●●●●
184. 88476144 c.1292C>A p.P431H missense 0.00000905●●●●●●
185. 88476140 c.1288A>T p.T430S missense 0.00000903●●●●●●
186. 88492712 c.2163C>A p.H721Q missense 0.00000896●●●●●●
187. 88492666 c.2117G>T p.G706V missense 0.00000895●●●●●●
188. 88469806 c.1230A>T splice site 0.00000894●●●●●●
189. 88441561 c.689+1G>A essential splice site 0.00000893●●●●●●
190. 88492668 c.2119C>T p.Q707X nonsense 0.00000892●●●●●●
191. 88492705 c.2156A>C p.K719T missense 0.00000887●●●●●●
192. 88492672 c.2123C>T p.P708L missense 0.00000886●●●●●●
193. 88476473 c.1621C>T p.R541X nonsense 0.00000881●●●●●●
194. 88492680 c.2131T>G p.S711A missense 0.00000879●●●●●●
195. 88476141 c.1289C>A p.T430N missense 0.00000878●●●●●●
196. 88469786 c.1210C>G p.R404G missense 0.00000874●●●●●●
197. 88469786 c.1210C>T p.R404W missense 0.00000874●●●●●●
198. 88476213 c.1361C>T p.T454I missense 0.00000872●●●●●●
199. 88469763 c.1187G>A p.R396Q missense 0.00000863●●●●●●
200. 88441367 c.496G>T p.A166S missense 0.00000863●●●●●●
201. 88441343 c.472G>T p.A158S missense 0.00000862●●●●●●
202. 88441343 c.472G>A p.A158T missense 0.00000862●●●●●●
203. 88441340 c.469G>A p.E157K missense 0.00000862●●●●●●
204. 88441506 c.635A>T p.Q212L missense 0.00000860●●●●●●
205. 88441380 c.509C>T p.A170V missense 0.00000860●●●●●●
206. 88441384 c.513G>T p.K171N missense 0.00000859●●●●●●
207. 88441248 c.377C>G p.A126G missense 0.00000859●●●●●●
208. 88441289 c.418C>G p.P140A missense 0.00000859●●●●●●
209. 88469736 c.1160G>T p.G387V missense 0.00000859●●●●●●
210. 88441227 c.356C>T p.A119V missense 0.00000859●●●●●●
211. 88441188 c.322-5G>T splice site 0.00000858●●●●●●
212. 88441286 c.415A>G p.R139G missense 0.00000858●●●●●●
213. 88441280 c.409G>A p.E137K missense 0.00000858●●●●●●
214. 88469742 c.1166C>G p.A389G missense 0.00000858●●●●●●
215. 88441268 c.397C>T p.P133S missense 0.00000858●●●●●●
216. 88441184 c.322-9C>T splice site 0.00000858●●●●●●
217. 88441304 c.433G>T p.A145S missense 0.00000858●●●●●●
218. 88441299 c.428G>T p.S143I missense 0.00000857●●●●●●
219. 88441391 c.520C>T p.P174S missense 0.00000857●●●●●●
220. 88469728 c.1152C>A p.Y384X nonsense 0.00000854●●●●●●
221. 88469729 c.1153A>G p.S385G missense 0.00000854●●●●●●
222. 88441496 c.625G>C p.E209Q missense 0.00000853●●●●●●
223. 88469723 c.1147A>G p.S383G missense 0.00000853●●●●●●
224. 88441403 c.532C>T p.R178W missense 0.00000853●●●●●●
225. 88469662 c.1086G>A splice site 0.00000851●●●●●●
226. 88469696 c.1120G>A p.A374T missense 0.00000851●●●●●●
227. 88469709 c.1133C>T p.P378L missense 0.00000851●●●●●●
228. 88469670 c.1094C>T p.A365V missense 0.00000850●●●●●●
229. 88466418 c.1027A>G p.T343A missense 0.00000849●●●●●●
230. 88441490 c.619C>G p.L207V missense 0.00000849●●●●●●
231. 88441485 c.614A>C p.E205A missense 0.00000846●●●●●●
232. 88476224 c.1372G>A p.A458T missense 0.00000846●●●●●●
233. 88476453 c.1601G>T p.G534V missense 0.00000844●●●●●●
234. 88476225 c.1373C>G p.A458G missense 0.00000843●●●●●●
235. 88466407 c.1016C>G p.A339G missense 0.00000843●●●●●●
236. 88441428 c.557T>C p.L186P missense 0.00000842●●●●●●
237. 88466388 c.997T>A p.S333T missense 0.00000840●●●●●●
238. 88476126 c.1274G>A p.S425N missense 0.00000840●●●●●●
239. 88466383 c.992C>A p.A331E missense 0.00000840●●●●●●
240. 88466362 c.971C>T p.P324L missense 0.00000839●●●●●●
241. 88466305 c.914C>G p.A305G missense 0.00000839●●●●●●
242. 88466361 c.970C>T p.P324S missense 0.00000839●●●●●●
243. 88466358 c.967C>T p.P323S missense 0.00000839●●●●●●
244. 88476121 c.1269T>G p.N423K missense 0.00000838●●●●●●
245. 88466336 c.945_972delGCTGCTGCCCGCTTCTGCCCAGCCACCT p.Ala319LeufsTer164 frameshift 0.00000838●●●●●●
246. 88428524 c.76C>T p.P26S missense 0.00000837●●●●●●
247. 88476105 c.1253C>T p.P418L missense 0.00000836●●●●●●
248. 88451830 c.859+8C>T splice site 0.00000835●●●●●●
249. 88428503 c.55G>C p.G19R missense 0.00000834●●●●●●
250. 88476237 c.1385C>T p.T462I missense 0.00000834●●●●●●
251. 88428459 c.11G>A p.S4N missense 0.00000833●●●●●●
252. 88451825 c.859+3G>C splice site 0.00000833●●●●●●
253. 88428479 c.31G>A p.G11R missense 0.00000833●●●●●●
254. 88428491 c.43T>C p.F15L missense 0.00000833●●●●●●
255. 88478612 c.1978+8C>A splice site 0.00000831●●●●●●
256. 88476249 c.1397C>T p.A466V missense 0.00000830●●●●●●
257. 88476399 c.1547G>T p.R516L missense 0.00000829●●●●●●
258. 88478599 c.1973A>G p.E658G missense 0.00000828●●●●●●
259. 88476389 c.1537A>G p.T513A missense 0.00000828●●●●●●
260. 88478599 c.1973A>C p.E658A missense 0.00000828●●●●●●
261. 88476390 c.1538C>A p.T513N missense 0.00000828●●●●●●
262. 88476270 c.1418C>A p.P473H missense 0.00000828●●●●●●
263. 88476392 c.1540C>G p.L514V missense 0.00000828●●●●●●
264. 88476266 c.1414G>C p.A472P missense 0.00000828●●●●●●
265. 88476279 c.1427C>T p.A476V missense 0.00000827●●●●●●
266. 88476290 c.1438G>A p.G480S missense 0.00000827●●●●●●
267. 88476368 c.1516delA p.Thr506ProfsTer59 frameshift 0.00000827●●●●●●
268. 88476366 c.1514G>A p.S505N missense 0.00000827●●●●●●
269. 88476291 c.1439G>A p.G480D missense 0.00000827●●●●●●
270. 88478580 c.1954G>C p.D652H missense 0.00000826●●●●●●
271. 88476323 c.1471G>A p.V491M missense 0.00000826●●●●●●
272. 88478589 c.1963C>A p.P655T missense 0.00000826●●●●●●
273. 88451789 c.826C>T p.R276C missense 0.00000826●●●●●●
274. 88439242 c.212C>G p.S71C missense 0.00000826●●●●●●
275. 88476357 c.1505C>T p.P502L missense 0.00000826●●●●●●
276. 88478584 c.1958G>A p.G653E missense 0.00000826●●●●●●
277. 88476332 c.1480G>A p.D494N missense 0.00000826●●●●●●
278. 88451790 c.827G>A p.R276H missense 0.00000826●●●●●●
279. 88476317 c.1465C>T p.P489S missense 0.00000826●●●●●●
280. 88451781 c.818G>A p.R273H missense 0.00000825●●●●●●
281. 88451759 c.796C>T p.R266C missense 0.00000825●●●●●●
282. 88451747 c.784G>A p.E262K missense 0.00000825●●●●●●
283. 88451678 c.715G>T p.V239L missense 0.00000825●●●●●●
284. 88439127 c.97A>T p.T33S missense 0.00000825●●●●●●
285. 88477730 c.1686T>A p.F562L missense 0.00000825●●●●●●
286. 88451753 c.790G>A p.A264T missense 0.00000825●●●●●●
287. 88451658 c.695T>G p.L232R missense 0.00000825●●●●●●
288. 88439208 c.178A>T p.M60L missense 0.00000825●●●●●●
289. 88439883 c.290A>G p.Q97R missense 0.00000825●●●●●●
290. 88451673 c.710T>G p.L237R missense 0.00000825●●●●●●
291. 88451663 c.700A>G p.I234V missense 0.00000825●●●●●●
292. 88439211 c.181A>C p.T61P missense 0.00000825●●●●●●
293. 88478564 c.1938C>A p.S646R missense 0.00000825●●●●●●
294. 88451763 c.800C>T p.S267F missense 0.00000825●●●●●●
295. 88439214 c.184C>T p.H62Y missense 0.00000825●●●●●●
296. 88451664 c.701T>A p.I234N missense 0.00000825●●●●●●
297. 88439197 c.167A>G p.N56S missense 0.00000824●●●●●●
298. 88451727 c.764_765insGCCAGAACAT p.Asp258HisfsTer5 frameshift 0.00000824●●●●●●
299. 88477755 c.1711C>T p.H571Y missense 0.00000824●●●●●●
300. 88485944 c.2029G>A p.E677K missense 0.00000824●●●●●●
301. 88452301 c.869C>T p.P290L missense 0.00000824●●●●●●
302. 88477904 c.1857+3A>G splice site 0.00000824●●●●●●
303. 88478479 c.1858-5C>A splice site 0.00000824●●●●●●
304. 88478539 c.1913C>A p.A638D missense 0.00000824●●●●●●
305. 88485941 c.2026delG p.Val676TrpfsTer27 frameshift 0.00000824●●●●●●
306. 88477833 c.1789T>C p.Y597H missense 0.00000824●●●●●●
307. 88477789 c.1745C>G p.T582S missense 0.00000824●●●●●●
308. 88477887 c.1843A>G p.T615A missense 0.00000824●●●●●●
309. 88451731 c.768_770delAGA p.Glu257del inframe 0.00000824●●●●●●
310. 88485964 c.2049C>G p.I683M missense 0.00000824●●●●●●
311. 88452309 c.877G>T p.E293X nonsense 0.00000824●●●●●●
312. 88478545 c.1919A>G p.K640R missense 0.00000824●●●●●●
313. 88451727 c.764A>G p.K255R missense 0.00000824●●●●●●
314. 88477780 c.1736A>G p.Y579C missense 0.00000824●●●●●●
315. 88451705 c.742G>A p.A248T missense 0.00000824●●●●●●
316. 88478481 c.1858-3C>T splice site 0.00000824●●●●●●
317. 88439142 c.112G>A p.A38T missense 0.00000824●●●●●●
318. 88478520 c.1894A>G p.T632A missense 0.00000824●●●●●●
319. 88477784 c.1740C>A p.C580X nonsense 0.00000824●●●●●●
320. 88477826 c.1782C>A p.N594K missense 0.00000824●●●●●●
321. 88452328 c.896G>A p.S299N missense 0.00000824●●●●●●
322. 88451741 c.778G>A p.A260T missense 0.00000824●●●●●●
323. 88451707 c.744_745delTG p.Val249AspfsTer2 frameshift 0.00000824●●●●●●
324. 88439166 c.136G>T p.G46C missense 0.00000824●●●●●●
325. 88452300 c.868C>A p.P290T missense 0.00000824●●●●●●
326. 88485917 c.2002A>G p.K668E missense 0.00000824●●●●●●
327. 88478529 c.1903G>T p.V635F missense 0.00000824●●●●●●
328. 88478484 c.1858G>A p.E620K missense 0.00000824●●●●●●
329. 88478508 c.1882delA p.Thr628HisfsTer75 frameshift 0.00000824●●●●●●
330. 88477785 c.1741A>C p.K581Q missense 0.00000824●●●●●●
331. 88451696 c.733G>A p.V245I missense 0.00000824●●●●●●
332. 88485977 c.2062C>T p.H688Y 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.