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

* 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.