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