TTN truncating variants in ExAC


The table below lists the TTN truncating 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 frequencyPopulations*
1. 179455726 c.60726T>A p.Y20242X nonsense 0.00000829
2. 179494977 c.44272C>T p.R14758X nonsense 0.00000831
3. 179632509 c.9448C>T p.R3150X nonsense 0.00001649
4. 179604264 c.13696C>T p.Q4566X nonsense 0.00000829
5. 179665380 c.325C>T p.R109X nonsense 0.00000847
6. 179454576 c.61876C>T p.R20626X nonsense 0.00006641
7. 179452435 c.63601C>T p.R21201X nonsense 0.00000836
8. 179444429 c.67495C>T p.R22499X nonsense 0.00001660
9. 179397931 c.103411C>T p.R34471X nonsense 0.00000829
10. 179407808 c.96892C>T p.Q32298X nonsense 0.00000879
11. 179393329 c.107149C>T p.Q35717X nonsense 0.00000892
12. 179393519 c.106959T>A p.Y35653X nonsense 0.00000839
13. 179428916 c.81943G>T p.E27315X nonsense 0.00000829
14. 179481235 c.48283C>T p.R16095X nonsense 0.00000834
15. 179497414 c.43319G>A p.W14440X nonsense 0.00000830
16. 179554062 c.31966A>T p.K10656X nonsense 0.00000834
17. 179598224 c.15796C>T p.R5266X nonsense 0.00000832
18. 179605317 c.12643C>T p.Q4215X nonsense 0.00000829
19. 179605373 c.12587C>A p.S4196X nonsense 0.00001659
20. 179621013 c.11190C>G p.Y3730X nonsense 0.00000829
21. 179621404 c.10799C>A p.S3600X nonsense 0.00001660
22. 179641524 c.5067G>A p.W1689X nonsense 0.00000825
23. 179588844 c.21142C>T p.R7048X nonsense 0.00001695
24. 179621351 c.10852C>T p.Q3618X nonsense 0.00000832
25. 179597846 c.16057C>T p.R5353X nonsense 0.00000895
26. 179393524 c.106954C>T p.Arg35652Ter nonsense 0.00001678
27. 179404241 c.98551C>T p.Arg32851Ter nonsense 0.00001656
28. 179411199 c.94859T>G p.Leu31620Ter nonsense 0.00000840
29. 179429372 c.81487G>T p.Glu27163Ter nonsense 0.00000834
30. 179433674 c.77185A>T p.Lys25729Ter nonsense 0.00003315
31. 179434205 c.76654C>T p.Arg25552Ter nonsense 0.00000834
32. 179621363 c.10840G>T p.Glu3614Ter nonsense 0.00008309
33. 179621384 c.10819G>T p.Glu3607Ter nonsense 0.00002491
34. 179391750 c.107965C>T p.R35989X nonsense 0.00000924
35. 179392218 c.107635C>T p.Q35879X nonsense 0.00001657
36. 179393686 c.106792C>T p.Q35598X nonsense 0.00000829
37. 179395282 c.106060C>T p.Q35354X nonsense 0.00000828
38. 179395407 c.105935T>G p.L35312X nonsense 0.00001658
39. 179396929 c.104413C>T p.R34805X nonsense 0.00000833
40. 179397158 c.104184T>G p.Y34728X nonsense 0.00000828
41. 179397250 c.104092C>T p.R34698X nonsense 0.00000828
42. 179397934 c.103408G>T p.E34470X nonsense 0.00000829
43. 179398819 c.102523C>T p.R34175X nonsense 0.00001656
44. 179399119 c.102223C>T p.Q34075X nonsense 0.00000829
45. 179400235 c.101107C>T p.R33703X nonsense 0.00000829
46. 179401950 c.99886G>T p.G33296X nonsense 0.00000865
47. 179403949 c.98713G>T p.E32905X nonsense 0.00000830
48. 179407168 c.97315C>T p.Q32439X nonsense 0.00000834
49. 179408003 c.96697C>T p.R32233X nonsense 0.00000828
50. 179416717 c.90910A>T p.R30304X nonsense 0.00000830
51. 179423146 c.87040C>T p.R29014X nonsense 0.00000835
52. 179424331 c.86528T>G p.L28843X nonsense 0.00000829
53. 179425592 c.85267C>T p.R28423X nonsense 0.00000832
54. 179426254 c.84605C>A p.S28202X nonsense 0.00000833
55. 179426604 c.84255C>A p.C28085X nonsense 0.00000834
56. 179428619 c.82240C>T p.R27414X nonsense 0.00001658
57. 179430143 c.80716C>T p.R26906X nonsense 0.00000830
58. 179431565 c.79294C>T p.R26432X nonsense 0.00000833
59. 179432669 c.78190A>T p.R26064X nonsense 0.00000829
60. 179433366 c.77493G>A p.W25831X nonsense 0.00000830
61. 179435736 c.75123T>A p.Y25041X nonsense 0.00000829
62. 179439501 c.71358T>G p.Y23786X nonsense 0.00000837
63. 179446377 c.66618C>A p.C22206X nonsense 0.00000845
64. 179447252 c.65931G>A p.W21977X nonsense 0.00000833
65. 179450018 c.64453C>T p.R21485X nonsense 0.00002508
66. 179451276 c.64352T>A p.L21451X nonsense 0.00000830
67. 179452078 c.63860G>A p.W21287X nonsense 0.00000897
68. 179453946 c.62506C>T p.R20836X nonsense 0.00000830
69. 179458925 c.58195C>T p.R19399X nonsense 0.00000832
70. 179463948 c.56572C>T p.R18858X nonsense 0.00002722
71. 179465659 c.55972C>T p.R18658X nonsense 0.00000830
72. 179468762 c.54652C>T p.R18218X nonsense 0.00001657
73. 179468996 c.54418C>T p.R18140X nonsense 0.00001809
74. 179469738 c.54166C>T p.R18056X nonsense 0.00000866
75. 179470279 c.53743C>T p.R17915X nonsense 0.00000830
76. 179474483 c.51667C>T p.R17223X nonsense 0.00000830
77. 179476842 c.50296C>T p.R16766X nonsense 0.00000878
78. 179481212 c.48306G>A p.W16102X nonsense 0.00000837
79. 179482120 c.47692C>T p.R15898X nonsense 0.00001504
80. 179482566 c.47512C>T p.R15838X nonsense 0.00000831
81. 179482584 c.47494C>T p.R15832X nonsense 0.00000830
82. 179494064 c.44388G>A p.W14796X nonsense 0.00000839
83. 179494065 c.44387G>A p.W14796X nonsense 0.00000839
84. 179495650 c.44035C>T p.R14679X nonsense 0.00000833
85. 179499273 c.42235C>T p.R14079X nonsense 0.00000830
86. 179500887 c.41411T>G p.L13804X nonsense 0.00000866
87. 179513978 c.40054A>T p.K13352X nonsense 0.00006579
88. 179514544 c.39895G>T p.E13299X nonsense 0.00000830
89. 179517786 c.38857G>T p.E12953X nonsense 0.00000843
90. 179517992 c.38764A>T p.K12922X nonsense 0.00001701
91. 179518019 c.38737G>T p.E12913X nonsense 0.00000852
92. 179537380 c.34837G>T p.E11613X nonsense 0.00000976
93. 179560679 c.31120G>T p.E10374X nonsense 0.00006096
94. 179568911 c.30186T>G p.Y10062X nonsense 0.00001656
95. 179568928 c.30169C>T p.Q10057X nonsense 0.00000828
96. 179569006 c.30091C>T p.Q10031X nonsense 0.00000828
97. 179571356 c.29245C>T p.Q9749X nonsense 0.00000828
98. 179574466 c.28580G>A p.W9527X nonsense 0.00000828
99. 179574554 c.28492A>T p.R9498X nonsense 0.00000832
100. 179577103 c.27546C>A p.Y9182X nonsense 0.00000828
101. 179580345 c.25796C>A p.S8599X nonsense 0.00000838
102. 179581883 c.25578C>A p.Y8526X nonsense 0.00000833
103. 179582820 c.24913C>T p.R8305X nonsense 0.00002488
104. 179584710 c.23659G>T p.E7887X nonsense 0.00001127
105. 179584974 c.23395A>T p.K7799X nonsense 0.00000838
106. 179584983 c.23386C>T p.R7796X nonsense 0.00001683
107. 179586757 c.22633C>T p.R7545X nonsense 0.00000831
108. 179587193 c.22321C>T p.R7441X nonsense 0.00000830
109. 179592036 c.20056C>T p.R6686X nonsense 0.00000848
110. 179593442 c.19211T>A p.L6404X nonsense 0.00000833
111. 179594439 c.18541C>T p.R6181X nonsense 0.00000829
112. 179595829 c.17563A>T p.K5855X nonsense 0.00000829
113. 179600299 c.14874T>G p.Y4958X nonsense 0.00000885
114. 179605602 c.12358C>T p.Q4120X nonsense 0.00000829
115. 179622330 c.10617C>A p.C3539X nonsense 0.00000844
116. 179622355 c.10592C>G p.S3531X nonsense 0.00000830
117. 179622357 c.10590C>A p.Y3530X nonsense 0.00000830
118. 179622379 c.10568T>G p.L3523X nonsense 0.00000829
119. 179629006 c.10012C>T p.Q3338X nonsense 0.00000830
120. 179631234 c.9577C>T p.R3193X nonsense 0.00000824
121. 179636006 c.8048T>A p.L2683X nonsense 0.00000825
122. 179638267 c.7516C>T p.R2506X nonsense 0.00000825
123. 179638282 c.7501C>T p.R2501X nonsense 0.00000825
124. 179639143 c.6848C>A p.S2283X nonsense 0.00000827
125. 179640213 c.6378G>A p.W2126X nonsense 0.00000826
126. 179640969 c.5622G>A p.W1874X nonsense 0.00000824
127. 179641711 c.4880G>A p.W1627X nonsense 0.00000830
128. 179642027 c.4663A>T p.K1555X nonsense 0.00000831
129. 179647321 c.3109G>T p.E1037X nonsense 0.00000848
130. 179647326 c.3104C>A p.S1035X nonsense 0.00000851
131. 179654710 c.1933G>T p.E645X nonsense 0.00000824
132. 179664340 c.788C>A p.S263X nonsense 0.00000824
133. 179664563 c.658C>T p.R220X nonsense 0.00000826
134. 179647298 c.3132_3133insCTTTGAAAAGAATTTGAAAAGGAAACCACA nonsense 0.00000839
135. 179487495 c.44816-1G>A essential splice site 0.00001637
136. 179400577 c.100766-1G>T essential splice site 0.00001051
137. 179424036 c.86821+2T>A essential splice site 0.00000891
138. 179620948 c.11254+1G>C essential splice site 0.00002619
139. 179505267 c.40723+1G>T essential splice site 0.00000833
140. 179537361 c.34855+1G>A essential splice site 0.00005521
141. 179549717 c.32471-1G>A essential splice site 0.00006805
142. 179583702 c.24227-2A>G essential splice site 0.00001195
143. 179623709 c.10303+2T>C essential splice site 0.00000825
144. 179393000 c.107377+1G>A essential splice site 0.00001661
145. 179528630 c.36365-1G>C essential splice site 0.00000862
146. 179547937 c.32887+1G>T essential splice site 0.00009465
147. 179568873 c.30223+1G>A essential splice site 0.00000831
148. 179394686 c.106531+1G>A essential splice site 0.00000829
149. 179394967 c.106374+1delG essential splice site 0.00000848
150. 179409236 c.95723-3_95723-2delCA essential splice site 0.00000858
151. 179415001 c.91565-1G>C essential splice site 0.00000856
152. 179422965 c.87119-3_87125delCAGAACCACC essential splice site 0.00000847
153. 179442714 c.68527+1G>C essential splice site 0.00000835
154. 179442914 c.68330-2A>G essential splice site 0.00000833
155. 179443532 c.68224+1G>A essential splice site 0.00000832
156. 179444577 c.67349-2A>C essential splice site 0.00000833
157. 179444665 c.67348+1G>A essential splice site 0.00000832
158. 179444957 c.67058-1G>A essential splice site 0.00000836
159. 179447021 c.66160+2T>C essential splice site 0.00000850
160. 179449002 c.65275+1G>A essential splice site 0.00000946
161. 179457898 c.59035+2T>C essential splice site 0.00000832
162. 179458204 c.58733-2A>G essential splice site 0.00000840
163. 179460537 c.57545-1G>A essential splice site 0.00001843
164. 179460538 c.57545-2A>G essential splice site 0.00001874
165. 179463232 c.57111+1G>A essential splice site 0.00000840
166. 179463790 c.56648-1G>A essential splice site 0.00000901
167. 179469712 c.54190+2T>C essential splice site 0.00000871
168. 179469713 c.54190+1G>A essential splice site 0.00000872
169. 179474816 c.51436+1G>A essential splice site 0.00000835
170. 179481455 c.48160+1G>C essential splice site 0.00000832
171. 179485441 c.45895+1G>A essential splice site 0.00000832
172. 179485441 c.45895+1G>T essential splice site 0.00000832
173. 179489460 c.44549-2A>C essential splice site 0.00000844
174. 179494967 c.44281+1G>A essential splice site 0.00000831
175. 179496873 c.43747+1G>T essential splice site 0.00001749
176. 179502148 c.40877-2A>G essential splice site 0.00002046
177. 179505358 c.40634-1G>A essential splice site 0.00002496
178. 179505967 c.40633+1G>A essential splice site 0.00004443
179. 179509274 c.40477+1G>T essential splice site 0.00001672
180. 179514543 c.39895+1G>A essential splice site 0.00000831
181. 179515968 c.39625+2T>C essential splice site 0.00000832
182. 179516907 c.39212-1G>T essential splice site 0.00001658
183. 179517767 c.38875+1G>T essential splice site 0.00000844
184. 179517852 c.38792-1G>C essential splice site 0.00000839
185. 179517964 c.38791+1G>A essential splice site 0.00000849
186. 179528438 c.36449-1G>C essential splice site 0.00000852
187. 179528630 c.36365-1G>A essential splice site 0.00000862
188. 179528741 c.36364+1G>C essential splice site 0.00002598
189. 179528826 c.36281-1G>C essential splice site 0.00000879
190. 179529186 c.36280+1G>T essential splice site 0.00000871
191. 179529380 c.36202+1G>T essential splice site 0.00000876
192. 179531549 c.35875+2T>C essential splice site 0.00008850
193. 179531550 c.35875+1G>C essential splice site 0.00004397
194. 179532168 c.35713+1delG essential splice site 0.00005578
195. 179532167 c.35713+2T>C essential splice site 0.00001395
196. 179535815 c.35308+2T>C essential splice site 0.00000922
197. 179537132 c.34930+2T>C essential splice site 0.00000836
198. 179537431 c.34787-1G>T essential splice site 0.00001444
199. 179539137 c.34613-1G>T essential splice site 0.00001934
200. 179539765 c.34612+1G>A essential splice site 0.00001904
201. 179544064 c.33742+2T>C essential splice site 0.00000833
202. 179544065 c.33742+1G>T essential splice site 0.00002499
203. 179544784 c.33419-2A>C essential splice site 0.00001669
204. 179544979 c.33418+2T>A essential splice site 0.00000829
205. 179544980 c.33418+1G>A essential splice site 0.00002485
206. 179548810 c.32723-1G>C essential splice site 0.00000833
207. 179549478 c.32555-2A>C essential splice site 0.00001670
208. 179554324 c.31847-2A>G essential splice site 0.00001100
209. 179558647 c.31513+2T>A essential splice site 0.00000907
210. 179566315 c.30539-1G>A essential splice site 0.00000829
211. 179566974 c.30434-2A>G essential splice site 0.00000829
212. 179569236 c.29962+1G>T essential splice site 0.00003384
213. 179571180 c.29420+1G>C essential splice site 0.00001257
214. 179574292 c.28753+1G>A essential splice site 0.00001727
215. 179577423 c.27328+1G>A essential splice site 0.00002500
216. 179581820 c.25639+2T>G essential splice site 0.00000875
217. 179581820 c.25639+2T>C essential splice site 0.00000875
218. 179582111 c.25352-2A>G essential splice site 0.00000851
219. 179582249 c.25351+1G>T essential splice site 0.00000893
220. 179582669 c.25063+1G>A essential splice site 0.00000835
221. 179583048 c.24784+1G>A essential splice site 0.00000838
222. 179588582 c.21403+1G>A essential splice site 0.00000875
223. 179588871 c.21116-1G>A essential splice site 0.00001724
224. 179592591 c.19715-1G>A essential splice site 0.00001836
225. 179593125 c.19427-1G>C essential splice site 0.00000983
226. 179595651 c.17740+1G>A essential splice site 0.00000887
227. 179596031 c.17461+1G>C essential splice site 0.00000830
228. 179596031 c.17461+1G>T essential splice site 0.00000830
229. 179596419 c.17182+1G>A essential splice site 0.00000858
230. 179597166 c.16621+1G>T essential splice site 0.00002586
231. 179600803 c.14372-2A>G essential splice site 0.00000921
232. 179629539 c.9704-1G>T essential splice site 0.00000842
233. 179632884 c.9164-2A>T essential splice site 0.00000841
234. 179634405 c.8902+1G>A essential splice site 0.00001688
235. 179637835 c.7855+1G>A essential splice site 0.00000830
236. 179638933 c.7057+1G>A essential splice site 0.00000825
237. 179642430 c.4480+1G>A essential splice site 0.00000824
238. 179644726 c.3729+1G>A essential splice site 0.00000826
239. 179645991 c.3381-1G>T essential splice site 0.00000836
240. 179650470 c.2371-1G>A essential splice site 0.00004120
241. 179654704 c.1938+1G>T essential splice site 0.00000824
242. 179655434 c.1800+1G>A essential splice site 0.00004943
243. 179656926 c.1537-2A>G essential splice site 0.00001709
244. 179658269 c.1399-1G>C essential splice site 0.00000825
245. 179659980 c.915-1G>A essential splice site 0.00000827
246. 179664638 c.584-1G>T essential splice site 0.00000829
247. 179391826 c.107889delA frameshift 0.00000832
248. 179412250 c.94103_94107delTTAAA p.Thr31366fs frameshift 0.00000848
249. 179404493 c.98299_98300delAG p.Arg32767fs frameshift 0.00000829
250. 179393027 c.107351delC p.S35784*fs*1 frameshift 0.00000829
251. 179395528 c.105814delA p.T35272Hfs*21 frameshift 0.00001659
252. 179412186 c.94167delT p.F31389Lfs*7 frameshift 0.00000957
253. 179480446 c.48382_48383insT p.K16128Ifs*6 frameshift 0.00000831
254. 179544666 c.33535delG p.E11179Sfs*3 frameshift 0.00000830
255. 179621090 c.11113delA p.R3705Dfs*2 frameshift 0.00001660
256. 179621020 c.11183dupG p.Leu3729ThrfsTer9 frameshift 0.00009947
257. 179414303 c.92146_92147delCA p.Gln30716IlefsTer5 frameshift 0.00000840
258. 179395318 c.106024delT p.Tyr35342MetfsTer63 frameshift 0.00000829
259. 179395538 c.105804_105805delGA p.Glu35268AspfsTer30 frameshift 0.00000829
260. 179395537 c.105805delA p.Thr35269GlnfsTer24 frameshift 0.00000829
261. 179396802 c.104540_104541insATAT p.Tyr34847Ter frameshift 0.00000830
262. 179396943 c.104399delG p.Arg34800LysfsTer10 frameshift 0.00000833
263. 179397397 c.103945_103946insTTGGG p.Arg34649LeufsTer25 frameshift 0.00002486
264. 179397982 c.103360delG p.Glu34454AsnfsTer3 frameshift 0.00001657
265. 179399072 c.102270_102271insAC p.Arg34091ThrfsTer8 frameshift 0.00000829
266. 179399108 c.102234_102237delAAGA p.Arg34079SerfsTer9 frameshift 0.00000829
267. 179401036 c.100438delG p.Glu33480LysfsTer23 frameshift 0.00000838
268. 179402568 c.99366_99367delCC p.Cys33122Ter frameshift 0.00000845
269. 179402618 c.99316delG p.Glu33106LysfsTer2 frameshift 0.00000962
270. 179404493 c.98299delA p.Arg32767GlyfsTer26 frameshift 0.00000829
271. 179405072 c.97821_97822delAA p.Arg32608SerfsTer3 frameshift 0.00000835
272. 179412505 c.93848_93849delCT p.Ser31283TrpfsTer14 frameshift 0.00000829
273. 179412544 c.93809_93810delGA p.Arg31270AsnfsTer12 frameshift 0.00000829
274. 179414850 c.91715dupA p.Asn30572LysfsTer16 frameshift 0.00000828
275. 179416530 c.91097_91100delGAAA p.Arg30366IlefsTer24 frameshift 0.00000829
276. 179417372 c.90255_90256delAT p.Cys30086Ter frameshift 0.00000829
277. 179419347 c.88727delC p.Thr29576LysfsTer36 frameshift 0.00000828
278. 179419726 c.88460delT p.Val29487GlyfsTer27 frameshift 0.00000834
279. 179421990 c.87999dupT p.Asp29334Ter frameshift 0.00000831
280. 179422155 c.87834_87837delCAGA p.Asp29278GlufsTer122 frameshift 0.00000828
281. 179422843 c.87238delA p.Arg29080GlufsTer10 frameshift 0.00000830
282. 179425292 c.85567_85570delTTTA p.Phe28523GlufsTer2 frameshift 0.00000840
283. 179425305 c.85554_85555insTTCC p.Asn28519PhefsTer3 frameshift 0.00000839
284. 179425324 c.85535_85539delTAACC p.Val28512GlufsTer7 frameshift 0.00000838
285. 179425631 c.85228_85231delGACA p.Asp28410IlefsTer5 frameshift 0.00000832
286. 179425795 c.85064delC p.Pro28355GlnfsTer4 frameshift 0.00000829
287. 179428494 c.82365delC p.Leu27456TrpfsTer32 frameshift 0.00000829
288. 179428848 c.82011dupA p.Asp27338ArgfsTer6 frameshift 0.00000828
289. 179430450 c.80409delA p.Lys26803AsnfsTer41 frameshift 0.00000829
290. 179431248 c.79611delT p.Thr26538LeufsTer6 frameshift 0.00000828
291. 179431248 c.79611_79612insGAAG p.Thr26538GlufsTer13 frameshift 0.00000828
292. 179434932 c.75927delA p.Ala25310LeufsTer7 frameshift 0.00000831
293. 179435377 c.75482delA p.Lys25161ArgfsTer11 frameshift 0.00000830
294. 179437659 c.73200delT p.Tyr24400Ter frameshift 0.00000835
295. 179438031 c.72828_72831dupTCTT p.Thr24278SerfsTer3 frameshift 0.00000876
296. 179439161 c.71698delC p.Arg23900GlyfsTer2 frameshift 0.00000829
297. 179439561 c.71298_71304delGCGGCAG p.Met23766IlefsTer10 frameshift 0.00000840
298. 179442177 c.68885_68888dupATAC p.Ile22964TyrfsTer8 frameshift 0.00000841
299. 179454712 c.61740delT p.Asn20580LysfsTer2 frameshift 0.00000833
300. 179457321 c.59411dupT p.Arg19805LysfsTer3 frameshift 0.00000831
301. 179457645 c.59201_59202delCT p.Pro19734ArgfsTer5 frameshift 0.00000828
302. 179459372 c.57849delT p.Val19284TyrfsTer18 frameshift 0.00000869
303. 179462291 c.57518_57521delAGAA p.Lys19173ArgfsTer8 frameshift 0.00000926
304. 179465823 c.55808_55809insC p.Lys18604GlufsTer3 frameshift 0.00000874
305. 179469843 c.54061delG p.Val18021TyrfsTer64 frameshift 0.00000832
306. 179474124 c.51913_51916delAAGG p.Lys17305ValfsTer13 frameshift 0.00000835
307. 179474603 c.51547_51548delAT p.Ile17183HisfsTer6 frameshift 0.00000829
308. 179477120 c.50132_50133delCA p.Thr16711SerfsTer6 frameshift 0.00000839
309. 179477165 c.50087_50088insA p.Gly16697ArgfsTer21 frameshift 0.00000844
310. 179477164 c.50088delA p.Gly16697AlafsTer19 frameshift 0.00000844
311. 179477907 c.49629delC p.Leu16544Ter frameshift 0.00000847
312. 179478975 c.49149dupC p.Thr16384HisfsTer11 frameshift 0.00000837
313. 179479230 c.49011_49012delTG p.Cys16337TrpfsTer14 frameshift 0.00000840
314. 179482787 c.47291_47292delAT p.Asn15764SerfsTer5 frameshift 0.00000837
315. 179486369 c.45182delT p.Val15061GlyfsTer19 frameshift 0.00000835
316. 179495077 c.44172dupA p.Glu14725ArgfsTer28 frameshift 0.00000862
317. 179495080 c.44169_44170insCATAT p.Glu14724HisfsTer42 frameshift 0.00000868
318. 179497077 c.43544dupT p.Phe14516IlefsTer8 frameshift 0.00003414
319. 179498342 c.42744delT p.Thr14249LeufsTer2 frameshift 0.00000837
320. 179499975 c.41941delA p.Ser13981ValfsTer19 frameshift 0.00000831
321. 179500348 c.41703delT p.Pro13902GlnfsTer23 frameshift 0.00001667
322. 179500951 c.41347delG p.Val13783Ter frameshift 0.00001368
323. 179501285 c.41169delT p.Ser13724AlafsTer52 frameshift 0.00000831
324. 179517586 c.38948_38951delCTCC p.Pro12983LeufsTer94 frameshift 0.00000857
325. 179517804 c.38839delA p.Thr12947LeufsTer18 frameshift 0.00000841
326. 179522298 c.37965dupT p.Pro12656SerfsTer7 frameshift 0.00001798
327. 179528810 c.36296_36297delAA p.Lys12099ArgfsTer5 frameshift 0.00000870
328. 179531598 c.35828dupA p.Glu11945ArgfsTer6 frameshift 0.00003914
329. 179546137 c.33213delC p.Ile11072PhefsTer36 frameshift 0.00000857
330. 179546397 c.33163_33164insAAAAC p.Pro11055GlnfsTer7 frameshift 0.00000830
331. 179549473 c.32558delC p.Pro10853GlnfsTer28 frameshift 0.00000834
332. 179552886 c.32263_32264dupGA p.Glu10756LysfsTer17 frameshift 0.00000828
333. 179553468 c.32133dupA p.Phe10712IlefsTer4 frameshift 0.00000829
334. 179553474 c.32127_32131delAAAGA p.Lys10710IlefsTer4 frameshift 0.00000829
335. 179554294 c.31875delA p.Glu10626LysfsTer4 frameshift 0.00001013
336. 179569677 c.29621_29624delAGAG p.Glu9874GlyfsTer28 frameshift 0.00000829
337. 179577224 c.27425_27426insCCATTTC p.Val9143HisfsTer19 frameshift 0.00000833
338. 179579299 c.26202delA p.Pro8735HisfsTer5 frameshift 0.00000924
339. 179579885 c.26028delG p.Trp8676CysfsTer16 frameshift 0.00003313
340. 179581962 c.25499delG p.Gly8500AlafsTer5 frameshift 0.00001659
341. 179582014 c.25447delG p.Ala8483HisfsTer22 frameshift 0.00000829
342. 179586645 c.22745_22746delCT p.Ser7582TrpfsTer10 frameshift 0.00000830
343. 179586773 c.22617dupT p.Gly7540TrpfsTer13 frameshift 0.00000835
344. 179586788 c.22602dupT p.Glu7535Ter frameshift 0.00000845
345. 179587926 c.21808delA p.Ile7270Ter frameshift 0.00001669
346. 179588342 c.21485delG p.Gly7162GlufsTer16 frameshift 0.00000855
347. 179589169 c.20933_20934delCT p.Ser6978CysfsTer2 frameshift 0.00001661
348. 179589257 c.20845_20848delGTCA p.Val6949LeufsTer8 frameshift 0.00000879
349. 179592387 c.19918_19919delAA p.Lys6640AspfsTer11 frameshift 0.00000834
350. 179593025 c.19526_19527insT p.Ile6510HisfsTer2 frameshift 0.00000847
351. 179593652 c.19113delA p.Val6372LeufsTer9 frameshift 0.00000855
352. 179595041 c.18086_18087dupTA p.Gln6030TyrfsTer3 frameshift 0.00000913
353. 179595728 c.17664delA p.Asp5889IlefsTer25 frameshift 0.00000829
354. 179595759 c.17633_17634insT p.Ile5879AsnfsTer12 frameshift 0.00000828
355. 179598068 c.15952delC p.Leu5318SerfsTer34 frameshift 0.00000830
356. 179599555 c.15096delT p.Phe5032LeufsTer13 frameshift 0.00000830
357. 179600392 c.14781_14782insA p.Leu4928ThrfsTer8 frameshift 0.00000832
358. 179600420 c.14753_14754delCA p.Thr4918SerfsTer17 frameshift 0.00000831
359. 179604017 c.13943_13947dupAAAAG p.Phe4650LysfsTer14 frameshift 0.00000850
360. 179604255 c.13705_13706delAG p.Leu4570GlufsTer12 frameshift 0.00000829
361. 179604274 c.13686delT p.Asp4563ThrfsTer8 frameshift 0.00000830
362. 179604825 c.13135dupT p.Ser4379PhefsTer2 frameshift 0.00000830
363. 179605889 c.12071delC p.Ala4024GlufsTer12 frameshift 0.00000830
364. 179620982 c.11221_11222delAG p.Arg3741AspfsTer13 frameshift 0.00000831
365. 179621082 c.11121delA p.Lys3707AsnfsTer19 frameshift 0.00000830
366. 179621119 c.11084_11085insA p.His3695GlnfsTer27 frameshift 0.00000830
367. 179621184 c.11019_11020insTGGAATTGTATAATTTTCTCATGGCA p.Gly3674TrpfsTer19 frameshift 0.00000831
368. 179621409 c.10794dupT p.Lys3599Ter frameshift 0.00001660
369. 179622283 c.10664_10665delCA p.Thr3555SerfsTer10 frameshift 0.00000900
370. 179622431 c.10516delC p.Leu3506TyrfsTer6 frameshift 0.00000829
371. 179638587 c.7308delC p.Ser2437ValfsTer11 frameshift 0.00000830
372. 179639656 c.6782_6783delTT p.Ile2261SerfsTer2 frameshift 0.00000828
373. 179642630 c.4281delG p.Met1427IlefsTer35 frameshift 0.00000828
374. 179644806 c.3650_3651delAG p.Glu1217ValfsTer2 frameshift 0.00000825
375. 179647781 c.2852dupA p.Asn951LysfsTer8 frameshift 0.00000830
376. 179648873 c.2699dupA p.Glu901GlyfsTer13 frameshift 0.00000824
377. 179650594 c.2351delG p.Gly784GlufsTer14 frameshift 0.00000824
378. 179650794 c.2151delC p.Arg718GlufsTer29 frameshift 0.00000828
379. 179655503 c.1732dupG p.Glu578GlyfsTer22 frameshift 0.00000824
380. 179655518 c.1717_1718delAA p.Lys573ValfsTer26 frameshift 0.00000824
381. 179658212 c.1455dupA p.Ala486SerfsTer26 frameshift 0.00000824
382. 179666886 c.274dupA p.Thr92AsnfsTer3 frameshift 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.