TTN truncating variants in ExAC


The table below lists the TTN truncating 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 frequencyPopulations*
1. 179620947 c.11254+2T>C essential splice site 0.00040205
2. 179518201 c.38660delA p.Lys12887ArgfsTer60 frameshift 0.00029014
3. 179554624 c.31763-1G>A essential splice site 0.00027334
4. 179553779 c.32095+1G>A essential splice site 0.00023255
5. 179571683 c.29042-2A>C essential splice site 0.00016130
6. 179518761 c.38442dupA p.Pro12815ThrfsTer37 frameshift 0.00012069
7. 179506963 c.40558+1G>A essential splice site 0.00011954
8. 179466515 c.55303-1G>A essential splice site 0.00010185
9. 179621020 c.11183dupG p.Leu3729ThrfsTer9 frameshift 0.00009947
10. 179547937 c.32887+1G>T essential splice site 0.00009465
11. 179531549 c.35875+2T>C essential splice site 0.00008850
12. 179621363 c.10840G>T p.Glu3614Ter nonsense 0.00008309
13. 179549717 c.32471-1G>A essential splice site 0.00006805
14. 179454576 c.61876C>T p.R20626X nonsense 0.00006641
15. 179513978 c.40054A>T p.K13352X nonsense 0.00006579
16. 179560679 c.31120G>T p.E10374X nonsense 0.00006096
17. 179532168 c.35713+1delG essential splice site 0.00005578
18. 179537361 c.34855+1G>A essential splice site 0.00005521
19. 179655434 c.1800+1G>A essential splice site 0.00004943
20. 179505967 c.40633+1G>A essential splice site 0.00004443
21. 179531550 c.35875+1G>C essential splice site 0.00004397
22. 179650470 c.2371-1G>A essential splice site 0.00004120
23. 179531598 c.35828dupA p.Glu11945ArgfsTer6 frameshift 0.00003914
24. 179497077 c.43544dupT p.Phe14516IlefsTer8 frameshift 0.00003414
25. 179569236 c.29962+1G>T essential splice site 0.00003384
26. 179433674 c.77185A>T p.Lys25729Ter nonsense 0.00003315
27. 179579885 c.26028delG p.Trp8676CysfsTer16 frameshift 0.00003313
28. 179463948 c.56572C>T p.R18858X nonsense 0.00002722
29. 179620948 c.11254+1G>C essential splice site 0.00002619
30. 179528741 c.36364+1G>C essential splice site 0.00002598
31. 179597166 c.16621+1G>T essential splice site 0.00002586
32. 179450018 c.64453C>T p.R21485X nonsense 0.00002508
33. 179577423 c.27328+1G>A essential splice site 0.00002500
34. 179544065 c.33742+1G>T essential splice site 0.00002499
35. 179505358 c.40634-1G>A essential splice site 0.00002496
36. 179621384 c.10819G>T p.Glu3607Ter nonsense 0.00002491
37. 179582820 c.24913C>T p.R8305X nonsense 0.00002488
38. 179397397 c.103945_103946insTTGGG p.Arg34649LeufsTer25 frameshift 0.00002486
39. 179544980 c.33418+1G>A essential splice site 0.00002485
40. 179502148 c.40877-2A>G essential splice site 0.00002046
41. 179539137 c.34613-1G>T essential splice site 0.00001934
42. 179539765 c.34612+1G>A essential splice site 0.00001904
43. 179460538 c.57545-2A>G essential splice site 0.00001874
44. 179460537 c.57545-1G>A essential splice site 0.00001843
45. 179592591 c.19715-1G>A essential splice site 0.00001836
46. 179468996 c.54418C>T p.R18140X nonsense 0.00001809
47. 179522298 c.37965dupT p.Pro12656SerfsTer7 frameshift 0.00001798
48. 179496873 c.43747+1G>T essential splice site 0.00001749
49. 179574292 c.28753+1G>A essential splice site 0.00001727
50. 179588871 c.21116-1G>A essential splice site 0.00001724
51. 179656926 c.1537-2A>G essential splice site 0.00001709
52. 179517992 c.38764A>T p.K12922X nonsense 0.00001701
53. 179588844 c.21142C>T p.R7048X nonsense 0.00001695
54. 179634405 c.8902+1G>A essential splice site 0.00001688
55. 179584983 c.23386C>T p.R7796X nonsense 0.00001683
56. 179393524 c.106954C>T p.Arg35652Ter nonsense 0.00001678
57. 179509274 c.40477+1G>T essential splice site 0.00001672
58. 179549478 c.32555-2A>C essential splice site 0.00001670
59. 179587926 c.21808delA p.Ile7270Ter frameshift 0.00001669
60. 179544784 c.33419-2A>C essential splice site 0.00001669
61. 179500348 c.41703delT p.Pro13902GlnfsTer23 frameshift 0.00001667
62. 179589169 c.20933_20934delCT p.Ser6978CysfsTer2 frameshift 0.00001661
63. 179393000 c.107377+1G>A essential splice site 0.00001661
64. 179621409 c.10794dupT p.Lys3599Ter frameshift 0.00001660
65. 179621404 c.10799C>A p.S3600X nonsense 0.00001660
66. 179621090 c.11113delA p.R3705Dfs*2 frameshift 0.00001660
67. 179444429 c.67495C>T p.R22499X nonsense 0.00001660
68. 179395528 c.105814delA p.T35272Hfs*21 frameshift 0.00001659
69. 179581962 c.25499delG p.Gly8500AlafsTer5 frameshift 0.00001659
70. 179605373 c.12587C>A p.S4196X nonsense 0.00001659
71. 179516907 c.39212-1G>T essential splice site 0.00001658
72. 179395407 c.105935T>G p.L35312X nonsense 0.00001658
73. 179428619 c.82240C>T p.R27414X nonsense 0.00001658
74. 179397982 c.103360delG p.Glu34454AsnfsTer3 frameshift 0.00001657
75. 179392218 c.107635C>T p.Q35879X nonsense 0.00001657
76. 179468762 c.54652C>T p.R18218X nonsense 0.00001657
77. 179568911 c.30186T>G p.Y10062X nonsense 0.00001656
78. 179404241 c.98551C>T p.Arg32851Ter nonsense 0.00001656
79. 179398819 c.102523C>T p.R34175X nonsense 0.00001656
80. 179632509 c.9448C>T p.R3150X nonsense 0.00001649
81. 179487495 c.44816-1G>A essential splice site 0.00001637
82. 179482120 c.47692C>T p.R15898X nonsense 0.00001504
83. 179537431 c.34787-1G>T essential splice site 0.00001444
84. 179532167 c.35713+2T>C essential splice site 0.00001395
85. 179500951 c.41347delG p.Val13783Ter frameshift 0.00001368
86. 179571180 c.29420+1G>C essential splice site 0.00001257
87. 179583702 c.24227-2A>G essential splice site 0.00001195
88. 179584710 c.23659G>T p.E7887X nonsense 0.00001127
89. 179554324 c.31847-2A>G essential splice site 0.00001100
90. 179400577 c.100766-1G>T essential splice site 0.00001051
91. 179554294 c.31875delA p.Glu10626LysfsTer4 frameshift 0.00001013
92. 179593125 c.19427-1G>C essential splice site 0.00000983
93. 179537380 c.34837G>T p.E11613X nonsense 0.00000976
94. 179402618 c.99316delG p.Glu33106LysfsTer2 frameshift 0.00000962
95. 179412186 c.94167delT p.F31389Lfs*7 frameshift 0.00000957
96. 179449002 c.65275+1G>A essential splice site 0.00000946
97. 179462291 c.57518_57521delAGAA p.Lys19173ArgfsTer8 frameshift 0.00000926
98. 179391750 c.107965C>T p.R35989X nonsense 0.00000924
99. 179579299 c.26202delA p.Pro8735HisfsTer5 frameshift 0.00000924
100. 179535815 c.35308+2T>C essential splice site 0.00000922
101. 179600803 c.14372-2A>G essential splice site 0.00000921
102. 179595041 c.18086_18087dupTA p.Gln6030TyrfsTer3 frameshift 0.00000913
103. 179558647 c.31513+2T>A essential splice site 0.00000907
104. 179463790 c.56648-1G>A essential splice site 0.00000901
105. 179622283 c.10664_10665delCA p.Thr3555SerfsTer10 frameshift 0.00000900
106. 179452078 c.63860G>A p.W21287X nonsense 0.00000897
107. 179597846 c.16057C>T p.R5353X nonsense 0.00000895
108. 179582249 c.25351+1G>T essential splice site 0.00000893
109. 179393329 c.107149C>T p.Q35717X nonsense 0.00000892
110. 179424036 c.86821+2T>A essential splice site 0.00000891
111. 179595651 c.17740+1G>A essential splice site 0.00000887
112. 179600299 c.14874T>G p.Y4958X nonsense 0.00000885
113. 179589257 c.20845_20848delGTCA p.Val6949LeufsTer8 frameshift 0.00000879
114. 179407808 c.96892C>T p.Q32298X nonsense 0.00000879
115. 179528826 c.36281-1G>C essential splice site 0.00000879
116. 179476842 c.50296C>T p.R16766X nonsense 0.00000878
117. 179438031 c.72828_72831dupTCTT p.Thr24278SerfsTer3 frameshift 0.00000876
118. 179529380 c.36202+1G>T essential splice site 0.00000876
119. 179581820 c.25639+2T>G essential splice site 0.00000875
120. 179581820 c.25639+2T>C essential splice site 0.00000875
121. 179588582 c.21403+1G>A essential splice site 0.00000875
122. 179465823 c.55808_55809insC p.Lys18604GlufsTer3 frameshift 0.00000874
123. 179469713 c.54190+1G>A essential splice site 0.00000872
124. 179529186 c.36280+1G>T essential splice site 0.00000871
125. 179469712 c.54190+2T>C essential splice site 0.00000871
126. 179528810 c.36296_36297delAA p.Lys12099ArgfsTer5 frameshift 0.00000870
127. 179459372 c.57849delT p.Val19284TyrfsTer18 frameshift 0.00000869
128. 179495080 c.44169_44170insCATAT p.Glu14724HisfsTer42 frameshift 0.00000868
129. 179469738 c.54166C>T p.R18056X nonsense 0.00000866
130. 179500887 c.41411T>G p.L13804X nonsense 0.00000866
131. 179401950 c.99886G>T p.G33296X nonsense 0.00000865
132. 179528630 c.36365-1G>A essential splice site 0.00000862
133. 179528630 c.36365-1G>C essential splice site 0.00000862
134. 179495077 c.44172dupA p.Glu14725ArgfsTer28 frameshift 0.00000862
135. 179596419 c.17182+1G>A essential splice site 0.00000858
136. 179409236 c.95723-3_95723-2delCA essential splice site 0.00000858
137. 179546137 c.33213delC p.Ile11072PhefsTer36 frameshift 0.00000857
138. 179517586 c.38948_38951delCTCC p.Pro12983LeufsTer94 frameshift 0.00000857
139. 179415001 c.91565-1G>C essential splice site 0.00000856
140. 179593652 c.19113delA p.Val6372LeufsTer9 frameshift 0.00000855
141. 179588342 c.21485delG p.Gly7162GlufsTer16 frameshift 0.00000855
142. 179518019 c.38737G>T p.E12913X nonsense 0.00000852
143. 179528438 c.36449-1G>C essential splice site 0.00000852
144. 179582111 c.25352-2A>G essential splice site 0.00000851
145. 179647326 c.3104C>A p.S1035X nonsense 0.00000851
146. 179604017 c.13943_13947dupAAAAG p.Phe4650LysfsTer14 frameshift 0.00000850
147. 179447021 c.66160+2T>C essential splice site 0.00000850
148. 179517964 c.38791+1G>A essential splice site 0.00000849
149. 179412250 c.94103_94107delTTAAA p.Thr31366fs frameshift 0.00000848
150. 179394967 c.106374+1delG essential splice site 0.00000848
151. 179647321 c.3109G>T p.E1037X nonsense 0.00000848
152. 179592036 c.20056C>T p.R6686X nonsense 0.00000848
153. 179422965 c.87119-3_87125delCAGAACCACC essential splice site 0.00000847
154. 179593025 c.19526_19527insT p.Ile6510HisfsTer2 frameshift 0.00000847
155. 179477907 c.49629delC p.Leu16544Ter frameshift 0.00000847
156. 179665380 c.325C>T p.R109X nonsense 0.00000847
157. 179402568 c.99366_99367delCC p.Cys33122Ter frameshift 0.00000845
158. 179446377 c.66618C>A p.C22206X nonsense 0.00000845
159. 179586788 c.22602dupT p.Glu7535Ter frameshift 0.00000845
160. 179489460 c.44549-2A>C essential splice site 0.00000844
161. 179477165 c.50087_50088insA p.Gly16697ArgfsTer21 frameshift 0.00000844
162. 179622330 c.10617C>A p.C3539X nonsense 0.00000844
163. 179477164 c.50088delA p.Gly16697AlafsTer19 frameshift 0.00000844
164. 179517767 c.38875+1G>T essential splice site 0.00000844
165. 179517786 c.38857G>T p.E12953X nonsense 0.00000843
166. 179629539 c.9704-1G>T essential splice site 0.00000842
167. 179517804 c.38839delA p.Thr12947LeufsTer18 frameshift 0.00000841
168. 179632884 c.9164-2A>T essential splice site 0.00000841
169. 179442177 c.68885_68888dupATAC p.Ile22964TyrfsTer8 frameshift 0.00000841
170. 179439561 c.71298_71304delGCGGCAG p.Met23766IlefsTer10 frameshift 0.00000840
171. 179479230 c.49011_49012delTG p.Cys16337TrpfsTer14 frameshift 0.00000840
172. 179458204 c.58733-2A>G essential splice site 0.00000840
173. 179425292 c.85567_85570delTTTA p.Phe28523GlufsTer2 frameshift 0.00000840
174. 179463232 c.57111+1G>A essential splice site 0.00000840
175. 179411199 c.94859T>G p.Leu31620Ter nonsense 0.00000840
176. 179414303 c.92146_92147delCA p.Gln30716IlefsTer5 frameshift 0.00000840
177. 179517852 c.38792-1G>C essential splice site 0.00000839
178. 179393519 c.106959T>A p.Y35653X nonsense 0.00000839
179. 179494064 c.44388G>A p.W14796X nonsense 0.00000839
180. 179647298 c.3132_3133insCTTTGAAAAGAATTTGAAAAGGAAACCACA nonsense 0.00000839
181. 179494065 c.44387G>A p.W14796X nonsense 0.00000839
182. 179477120 c.50132_50133delCA p.Thr16711SerfsTer6 frameshift 0.00000839
183. 179425305 c.85554_85555insTTCC p.Asn28519PhefsTer3 frameshift 0.00000839
184. 179580345 c.25796C>A p.S8599X nonsense 0.00000838
185. 179425324 c.85535_85539delTAACC p.Val28512GlufsTer7 frameshift 0.00000838
186. 179584974 c.23395A>T p.K7799X nonsense 0.00000838
187. 179401036 c.100438delG p.Glu33480LysfsTer23 frameshift 0.00000838
188. 179583048 c.24784+1G>A essential splice site 0.00000838
189. 179481212 c.48306G>A p.W16102X nonsense 0.00000837
190. 179439501 c.71358T>G p.Y23786X nonsense 0.00000837
191. 179498342 c.42744delT p.Thr14249LeufsTer2 frameshift 0.00000837
192. 179482787 c.47291_47292delAT p.Asn15764SerfsTer5 frameshift 0.00000837
193. 179478975 c.49149dupC p.Thr16384HisfsTer11 frameshift 0.00000837
194. 179444957 c.67058-1G>A essential splice site 0.00000836
195. 179452435 c.63601C>T p.R21201X nonsense 0.00000836
196. 179645991 c.3381-1G>T essential splice site 0.00000836
197. 179537132 c.34930+2T>C essential splice site 0.00000836
198. 179423146 c.87040C>T p.R29014X nonsense 0.00000835
199. 179437659 c.73200delT p.Tyr24400Ter frameshift 0.00000835
200. 179474816 c.51436+1G>A essential splice site 0.00000835
201. 179405072 c.97821_97822delAA p.Arg32608SerfsTer3 frameshift 0.00000835
202. 179586773 c.22617dupT p.Gly7540TrpfsTer13 frameshift 0.00000835
203. 179582669 c.25063+1G>A essential splice site 0.00000835
204. 179442714 c.68527+1G>C essential splice site 0.00000835
205. 179486369 c.45182delT p.Val15061GlyfsTer19 frameshift 0.00000835
206. 179474124 c.51913_51916delAAGG p.Lys17305ValfsTer13 frameshift 0.00000835
207. 179481235 c.48283C>T p.R16095X nonsense 0.00000834
208. 179429372 c.81487G>T p.Glu27163Ter nonsense 0.00000834
209. 179419726 c.88460delT p.Val29487GlyfsTer27 frameshift 0.00000834
210. 179549473 c.32558delC p.Pro10853GlnfsTer28 frameshift 0.00000834
211. 179407168 c.97315C>T p.Q32439X nonsense 0.00000834
212. 179426604 c.84255C>A p.C28085X nonsense 0.00000834
213. 179554062 c.31966A>T p.K10656X nonsense 0.00000834
214. 179434205 c.76654C>T p.Arg25552Ter nonsense 0.00000834
215. 179592387 c.19918_19919delAA p.Lys6640AspfsTer11 frameshift 0.00000834
216. 179454712 c.61740delT p.Asn20580LysfsTer2 frameshift 0.00000833
217. 179495650 c.44035C>T p.R14679X nonsense 0.00000833
218. 179442914 c.68330-2A>G essential splice site 0.00000833
219. 179447252 c.65931G>A p.W21977X nonsense 0.00000833
220. 179426254 c.84605C>A p.S28202X nonsense 0.00000833
221. 179431565 c.79294C>T p.R26432X nonsense 0.00000833
222. 179581883 c.25578C>A p.Y8526X nonsense 0.00000833
223. 179505267 c.40723+1G>T essential splice site 0.00000833
224. 179444577 c.67349-2A>C essential splice site 0.00000833
225. 179396929 c.104413C>T p.R34805X nonsense 0.00000833
226. 179396943 c.104399delG p.Arg34800LysfsTer10 frameshift 0.00000833
227. 179577224 c.27425_27426insCCATTTC p.Val9143HisfsTer19 frameshift 0.00000833
228. 179593442 c.19211T>A p.L6404X nonsense 0.00000833
229. 179548810 c.32723-1G>C essential splice site 0.00000833
230. 179544064 c.33742+2T>C essential splice site 0.00000833
231. 179457898 c.59035+2T>C essential splice site 0.00000832
232. 179485441 c.45895+1G>A essential splice site 0.00000832
233. 179598224 c.15796C>T p.R5266X nonsense 0.00000832
234. 179443532 c.68224+1G>A essential splice site 0.00000832
235. 179600392 c.14781_14782insA p.Leu4928ThrfsTer8 frameshift 0.00000832
236. 179485441 c.45895+1G>T essential splice site 0.00000832
237. 179481455 c.48160+1G>C essential splice site 0.00000832
238. 179425631 c.85228_85231delGACA p.Asp28410IlefsTer5 frameshift 0.00000832
239. 179458925 c.58195C>T p.R19399X nonsense 0.00000832
240. 179469843 c.54061delG p.Val18021TyrfsTer64 frameshift 0.00000832
241. 179621351 c.10852C>T p.Q3618X nonsense 0.00000832
242. 179574554 c.28492A>T p.R9498X nonsense 0.00000832
243. 179425592 c.85267C>T p.R28423X nonsense 0.00000832
244. 179515968 c.39625+2T>C essential splice site 0.00000832
245. 179444665 c.67348+1G>A essential splice site 0.00000832
246. 179391826 c.107889delA frameshift 0.00000832
247. 179501285 c.41169delT p.Ser13724AlafsTer52 frameshift 0.00000831
248. 179499975 c.41941delA p.Ser13981ValfsTer19 frameshift 0.00000831
249. 179642027 c.4663A>T p.K1555X nonsense 0.00000831
250. 179494967 c.44281+1G>A essential splice site 0.00000831
251. 179421990 c.87999dupT p.Asp29334Ter frameshift 0.00000831
252. 179514543 c.39895+1G>A essential splice site 0.00000831
253. 179457321 c.59411dupT p.Arg19805LysfsTer3 frameshift 0.00000831
254. 179434932 c.75927delA p.Ala25310LeufsTer7 frameshift 0.00000831
255. 179480446 c.48382_48383insT p.K16128Ifs*6 frameshift 0.00000831
256. 179621184 c.11019_11020insTGGAATTGTATAATTTTCTCATGGCA p.Gly3674TrpfsTer19 frameshift 0.00000831
257. 179482566 c.47512C>T p.R15838X nonsense 0.00000831
258. 179568873 c.30223+1G>A essential splice site 0.00000831
259. 179600420 c.14753_14754delCA p.Thr4918SerfsTer17 frameshift 0.00000831
260. 179494977 c.44272C>T p.R14758X nonsense 0.00000831
261. 179586757 c.22633C>T p.R7545X nonsense 0.00000831
262. 179620982 c.11221_11222delAG p.Arg3741AspfsTer13 frameshift 0.00000831
263. 179403949 c.98713G>T p.E32905X nonsense 0.00000830
264. 179604274 c.13686delT p.Asp4563ThrfsTer8 frameshift 0.00000830
265. 179596031 c.17461+1G>T essential splice site 0.00000830
266. 179465659 c.55972C>T p.R18658X nonsense 0.00000830
267. 179638587 c.7308delC p.Ser2437ValfsTer11 frameshift 0.00000830
268. 179514544 c.39895G>T p.E13299X nonsense 0.00000830
269. 179621082 c.11121delA p.Lys3707AsnfsTer19 frameshift 0.00000830
270. 179599555 c.15096delT p.Phe5032LeufsTer13 frameshift 0.00000830
271. 179482584 c.47494C>T p.R15832X nonsense 0.00000830
272. 179453946 c.62506C>T p.R20836X nonsense 0.00000830
273. 179586645 c.22745_22746delCT p.Ser7582TrpfsTer10 frameshift 0.00000830
274. 179587193 c.22321C>T p.R7441X nonsense 0.00000830
275. 179497414 c.43319G>A p.W14440X nonsense 0.00000830
276. 179499273 c.42235C>T p.R14079X nonsense 0.00000830
277. 179604825 c.13135dupT p.Ser4379PhefsTer2 frameshift 0.00000830
278. 179470279 c.53743C>T p.R17915X nonsense 0.00000830
279. 179396802 c.104540_104541insATAT p.Tyr34847Ter frameshift 0.00000830
280. 179621119 c.11084_11085insA p.His3695GlnfsTer27 frameshift 0.00000830
281. 179629006 c.10012C>T p.Q3338X nonsense 0.00000830
282. 179622355 c.10592C>G p.S3531X nonsense 0.00000830
283. 179605889 c.12071delC p.Ala4024GlufsTer12 frameshift 0.00000830
284. 179474483 c.51667C>T p.R17223X nonsense 0.00000830
285. 179596031 c.17461+1G>C essential splice site 0.00000830
286. 179546397 c.33163_33164insAAAAC p.Pro11055GlnfsTer7 frameshift 0.00000830
287. 179451276 c.64352T>A p.L21451X nonsense 0.00000830
288. 179433366 c.77493G>A p.W25831X nonsense 0.00000830
289. 179647781 c.2852dupA p.Asn951LysfsTer8 frameshift 0.00000830
290. 179416717 c.90910A>T p.R30304X nonsense 0.00000830
291. 179637835 c.7855+1G>A essential splice site 0.00000830
292. 179435377 c.75482delA p.Lys25161ArgfsTer11 frameshift 0.00000830
293. 179641711 c.4880G>A p.W1627X nonsense 0.00000830
294. 179598068 c.15952delC p.Leu5318SerfsTer34 frameshift 0.00000830
295. 179622357 c.10590C>A p.Y3530X nonsense 0.00000830
296. 179422843 c.87238delA p.Arg29080GlufsTer10 frameshift 0.00000830
297. 179544666 c.33535delG p.E11179Sfs*3 frameshift 0.00000830
298. 179430143 c.80716C>T p.R26906X nonsense 0.00000830
299. 179399108 c.102234_102237delAAGA p.Arg34079SerfsTer9 frameshift 0.00000829
300. 179399119 c.102223C>T p.Q34075X nonsense 0.00000829
301. 179595728 c.17664delA p.Asp5889IlefsTer25 frameshift 0.00000829
302. 179428494 c.82365delC p.Leu27456TrpfsTer32 frameshift 0.00000829
303. 179474603 c.51547_51548delAT p.Ile17183HisfsTer6 frameshift 0.00000829
304. 179594439 c.18541C>T p.R6181X nonsense 0.00000829
305. 179435736 c.75123T>A p.Y25041X nonsense 0.00000829
306. 179404493 c.98299delA p.Arg32767GlyfsTer26 frameshift 0.00000829
307. 179395537 c.105805delA p.Thr35269GlnfsTer24 frameshift 0.00000829
308. 179553468 c.32133dupA p.Phe10712IlefsTer4 frameshift 0.00000829
309. 179622379 c.10568T>G p.L3523X nonsense 0.00000829
310. 179412544 c.93809_93810delGA p.Arg31270AsnfsTer12 frameshift 0.00000829
311. 179416530 c.91097_91100delGAAA p.Arg30366IlefsTer24 frameshift 0.00000829
312. 179566974 c.30434-2A>G essential splice site 0.00000829
313. 179404493 c.98299_98300delAG p.Arg32767fs frameshift 0.00000829
314. 179595829 c.17563A>T p.K5855X nonsense 0.00000829
315. 179424331 c.86528T>G p.L28843X nonsense 0.00000829
316. 179605317 c.12643C>T p.Q4215X nonsense 0.00000829
317. 179400235 c.101107C>T p.R33703X nonsense 0.00000829
318. 179397934 c.103408G>T p.E34470X nonsense 0.00000829
319. 179553474 c.32127_32131delAAAGA p.Lys10710IlefsTer4 frameshift 0.00000829
320. 179455726 c.60726T>A p.Y20242X nonsense 0.00000829
321. 179417372 c.90255_90256delAT p.Cys30086Ter frameshift 0.00000829
322. 179432669 c.78190A>T p.R26064X nonsense 0.00000829
323. 179399072 c.102270_102271insAC p.Arg34091ThrfsTer8 frameshift 0.00000829
324. 179397931 c.103411C>T p.R34471X nonsense 0.00000829
325. 179395318 c.106024delT p.Tyr35342MetfsTer63 frameshift 0.00000829
326. 179430450 c.80409delA p.Lys26803AsnfsTer41 frameshift 0.00000829
327. 179604264 c.13696C>T p.Q4566X nonsense 0.00000829
328. 179622431 c.10516delC p.Leu3506TyrfsTer6 frameshift 0.00000829
329. 179428916 c.81943G>T p.E27315X nonsense 0.00000829
330. 179393686 c.106792C>T p.Q35598X nonsense 0.00000829
331. 179604255 c.13705_13706delAG p.Leu4570GlufsTer12 frameshift 0.00000829
332. 179439161 c.71698delC p.Arg23900GlyfsTer2 frameshift 0.00000829
333. 179544979 c.33418+2T>A essential splice site 0.00000829
334. 179425795 c.85064delC p.Pro28355GlnfsTer4 frameshift 0.00000829
335. 179664638 c.584-1G>T essential splice site 0.00000829
336. 179393027 c.107351delC p.S35784*fs*1 frameshift 0.00000829
337. 179582014 c.25447delG p.Ala8483HisfsTer22 frameshift 0.00000829
338. 179569677 c.29621_29624delAGAG p.Glu9874GlyfsTer28 frameshift 0.00000829
339. 179566315 c.30539-1G>A essential splice site 0.00000829
340. 179395538 c.105804_105805delGA p.Glu35268AspfsTer30 frameshift 0.00000829
341. 179394686 c.106531+1G>A essential splice site 0.00000829
342. 179605602 c.12358C>T p.Q4120X nonsense 0.00000829
343. 179621013 c.11190C>G p.Y3730X nonsense 0.00000829
344. 179412505 c.93848_93849delCT p.Ser31283TrpfsTer14 frameshift 0.00000829
345. 179395282 c.106060C>T p.Q35354X nonsense 0.00000828
346. 179431248 c.79611delT p.Thr26538LeufsTer6 frameshift 0.00000828
347. 179650794 c.2151delC p.Arg718GlufsTer29 frameshift 0.00000828
348. 179574466 c.28580G>A p.W9527X nonsense 0.00000828
349. 179397250 c.104092C>T p.R34698X nonsense 0.00000828
350. 179568928 c.30169C>T p.Q10057X nonsense 0.00000828
351. 179428848 c.82011dupA p.Asp27338ArgfsTer6 frameshift 0.00000828
352. 179595759 c.17633_17634insT p.Ile5879AsnfsTer12 frameshift 0.00000828
353. 179431248 c.79611_79612insGAAG p.Thr26538GlufsTer13 frameshift 0.00000828
354. 179642630 c.4281delG p.Met1427IlefsTer35 frameshift 0.00000828
355. 179569006 c.30091C>T p.Q10031X nonsense 0.00000828
356. 179408003 c.96697C>T p.R32233X nonsense 0.00000828
357. 179422155 c.87834_87837delCAGA p.Asp29278GlufsTer122 frameshift 0.00000828
358. 179639656 c.6782_6783delTT p.Ile2261SerfsTer2 frameshift 0.00000828
359. 179414850 c.91715dupA p.Asn30572LysfsTer16 frameshift 0.00000828
360. 179457645 c.59201_59202delCT p.Pro19734ArgfsTer5 frameshift 0.00000828
361. 179419347 c.88727delC p.Thr29576LysfsTer36 frameshift 0.00000828
362. 179577103 c.27546C>A p.Y9182X nonsense 0.00000828
363. 179571356 c.29245C>T p.Q9749X nonsense 0.00000828
364. 179397158 c.104184T>G p.Y34728X nonsense 0.00000828
365. 179552886 c.32263_32264dupGA p.Glu10756LysfsTer17 frameshift 0.00000828
366. 179659980 c.915-1G>A essential splice site 0.00000827
367. 179639143 c.6848C>A p.S2283X nonsense 0.00000827
368. 179640213 c.6378G>A p.W2126X nonsense 0.00000826
369. 179664563 c.658C>T p.R220X nonsense 0.00000826
370. 179644726 c.3729+1G>A essential splice site 0.00000826
371. 179658269 c.1399-1G>C essential splice site 0.00000825
372. 179636006 c.8048T>A p.L2683X nonsense 0.00000825
373. 179638267 c.7516C>T p.R2506X nonsense 0.00000825
374. 179638933 c.7057+1G>A essential splice site 0.00000825
375. 179638282 c.7501C>T p.R2501X nonsense 0.00000825
376. 179623709 c.10303+2T>C essential splice site 0.00000825
377. 179641524 c.5067G>A p.W1689X nonsense 0.00000825
378. 179644806 c.3650_3651delAG p.Glu1217ValfsTer2 frameshift 0.00000825
379. 179654710 c.1933G>T p.E645X nonsense 0.00000824
380. 179666886 c.274dupA p.Thr92AsnfsTer3 frameshift 0.00000824
381. 179648873 c.2699dupA p.Glu901GlyfsTer13 frameshift 0.00000824
382. 179642430 c.4480+1G>A essential splice site 0.00000824
383. 179655518 c.1717_1718delAA p.Lys573ValfsTer26 frameshift 0.00000824
384. 179664340 c.788C>A p.S263X nonsense 0.00000824
385. 179654704 c.1938+1G>T essential splice site 0.00000824
386. 179640969 c.5622G>A p.W1874X nonsense 0.00000824
387. 179658212 c.1455dupA p.Ala486SerfsTer26 frameshift 0.00000824
388. 179631234 c.9577C>T p.R3193X nonsense 0.00000824
389. 179650594 c.2351delG p.Gly784GlufsTer14 frameshift 0.00000824
390. 179655503 c.1732dupG p.Glu578GlyfsTer22 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.