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

* 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.