TTN splice variants in ExAC


The table below lists the TTN splice 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. 179669272 c.91+7T>C splice site 0.00003443
2. 179666860 c.295+5G>A splice site 0.00001648
3. 179665414 c.296-5C>T splice site 0.00003434
4. 179665413 c.296-4G>A splice site 0.00000858
5. 179665118 c.583+4C>T splice site 0.00001650
6. 179664552 c.669G>A splice site 0.00001652
7. 179664549 c.669+3A>G splice site 0.00002477
8. 179664546 c.669+6T>C splice site 0.00000826
9. 179664544 c.669+8T>C splice site 0.00000826
10. 179664461 c.670-3C>T splice site 0.00000824
11. 179664206 c.914+8T>C splice site 0.00002474
12. 179659983 c.915-4dupT splice site 0.00003308
13. 179659979 c.915G>A splice site 0.00001653
14. 179659646 c.1245+3A>G splice site 0.00001672
15. 179659643 c.1245+6G>A splice site 0.00001674
16. 179659122 c.1398+4C>T splice site 0.00025535
17. 179659122 c.1398+4C>A splice site 0.00001647
18. 179659121 c.1398+5G>A splice site 0.00014826
19. 179659118 c.1398+8C>T splice site 0.00350088
20. 179658271 c.1399-3C>T splice site 0.00000825
21. 179658125 c.1536+6A>G splice site 0.00000826
22. 179656928 c.1537-4G>A splice site 0.00215473
23. 179656791 c.1662+8T>C splice site 0.00000867
24. 179655432 c.1800+3G>A splice site 0.00000824
25. 179655427 c.1800+8C>G splice site 0.00000824
26. 179654849 c.1801-7T>C splice site 0.00000847
27. 179654847 c.1801-5A>C splice site 0.00000843
28. 179654846 c.1801-4delT splice site 0.00000842
29. 179654231 c.1939-7T>C splice site 0.00000832
30. 179654080 c.2076+7A>G splice site 0.00000826
31. 179650871 c.2077-3C>A splice site 0.00000874
32. 179650572 c.2370+3G>A splice site 0.00000824
33. 179650568 c.2370+7C>G splice site 0.00000824
34. 179650475 c.2371-6A>G splice site 0.00000824
35. 179650472 c.2371-3C>T splice site 0.00000824
36. 179650467 c.2373C>A splice site 0.00000824
37. 179650343 c.2493+4A>T splice site 0.00000825
38. 179649085 c.2494-7C>A splice site 0.00001680
39. 179649084 c.2494-6A>C splice site 0.00000839
40. 179649083 c.2494-5T>C splice site 0.00000839
41. 179648793 c.2775+4G>A splice site 0.00060176
42. 179648516 c.2776-4C>A splice site 0.00000833
43. 179648447 c.2841G>A splice site 0.00001653
44. 179647799 c.2842-8C>T splice site 0.00000835
45. 179647334 c.3101-5T>A splice site 0.00000857
46. 179647263 c.3164+3A>G splice site 0.00000839
47. 179647154 c.3165C>T splice site 0.00000828
48. 179645998 c.3381-8A>G splice site 0.00000842
49. 179644935 c.3524-3T>C splice site 0.00000835
50. 179644720 c.3729+7A>G splice site 0.00000826
51. 179644196 c.3730-7T>C splice site 0.00001250
52. 179643948 c.3963+8A>G splice site 0.00000830
53. 179642425 c.4480+6C>T splice site 0.95877028
54. 179642139 c.4645+8G>T splice site 0.00013152
55. 179642051 c.4646-7C>A splice site 0.00003348
56. 179642049 c.4646-5T>G splice site 0.00000836
57. 179641873 c.4814+3A>G splice site 0.00000825
58. 179641872 c.4814+4A>G splice site 0.00000825
59. 179640076 c.6508+7T>G splice site 0.00000825
60. 179638932 c.7057+2dupT splice site 0.00001649
61. 179638561 c.7330+4A>G splice site 0.00000835
62. 179638455 c.7331-3C>T splice site 0.00000832
63. 179638186 c.7594+3A>G splice site 0.00000826
64. 179638103 c.7595-7delT splice site 0.00003333
65. 179638103 c.7595-7T>C splice site 0.00000833
66. 179637830 c.7855+6T>C splice site 0.00000832
67. 179636205 c.7856-7T>C splice site 0.00000825
68. 179636197 c.7857T>G splice site 0.00000825
69. 179636197 c.7857T>C splice site 0.00000825
70. 179635055 c.8381-8C>T splice site 0.00000825
71. 179635051 c.8381-4T>C splice site 0.00000825
72. 179634783 c.8641+4_8641+7delAGTA splice site 0.00000825
73. 179633664 c.8903-4G>A splice site 0.00000833
74. 179633397 c.9163+3A>G splice site 0.00000826
75. 179633395 c.9163+5G>C splice site 0.00002479
76. 179632886 c.9164-4C>A splice site 0.00000844
77. 179632737 c.9305+4A>C splice site 0.00000824
78. 179632659 c.9306-8A>T splice site 0.00000825
79. 179632658 c.9306-7T>C splice site 0.00000825
80. 179632655 c.9306-4A>G splice site 0.00001650
81. 179632481 c.9471+5T>G splice site 0.00000829
82. 179632478 c.9471+8C>T splice site 0.00001659
83. 179631105 c.9703+3A>G splice site 0.00002474
84. 179631104 c.9703+4T>C splice site 0.00004124
85. 179629544 c.9704-6T>C splice site 0.00000843
86. 179629543 c.9704-5C>A splice site 0.00000843
87. 179629541 c.9704-3T>C splice site 0.00000842
88. 179628899 c.10114+5G>A splice site 0.00131050
89. 179623904 c.10115-5C>T splice site 0.00002483
90. 179623903 c.10115-4G>A splice site 0.00010761
91. 179622651 c.10304-8C>G splice site 0.00002753
92. 179621529 c.10679-5T>C splice site 0.00000862
93. 179621527 c.10679-3C>T splice site 0.00001725
94. 179620950 c.11253T>C splice site 0.00001737
95. 179620943 c.11254+6T>C splice site 0.00010537
96. 179620941 c.11254+8G>T splice site 0.00000880
97. 179617906 c.11256T>C p.A3752A splice site 0.00000938
98. 179603863 c.14092+5G>A splice site 0.00005178
99. 179603091 c.14093-4G>A splice site 0.00000897
100. 179602805 c.14371+4A>G splice site 0.00000852
101. 179602801 c.14371+8C>T splice site 0.00000858
102. 179600806 c.14372-5T>C splice site 0.00002775
103. 179600229 c.14935+9C>T splice site 0.00005243
104. 179600228 c.14935+10G>A splice site 0.00004025
105. 179599721 c.14936-6A>G splice site 0.00002728
106. 179599720 c.14936-5T>C splice site 0.00002668
107. 179599719 c.14936-4G>T splice site 0.00005209
108. 179599426 c.15217+8T>C splice site 0.00000873
109. 179599048 c.15496+7G>T splice site 0.00000896
110. 179598252 c.15776-8C>T splice site 0.00000839
111. 179598249 c.15776-5T>G splice site 0.00000838
112. 179598249 c.15776-5T>C splice site 0.00000838
113. 179597857 c.16055-9A>C splice site 0.00041440
114. 179597847 c.16056T>C p.D5352D splice site 0.00014323
115. 179597846 c.16057C>A splice site 0.00001790
116. 179597160 c.16621+7A>T splice site 0.00071929
117. 179597157 c.16621+10G>A splice site 0.00016515
118. 179596706 c.16904-8T>A splice site 0.00000863
119. 179596705 c.16904-7A>G splice site 0.00000863
120. 179596703 c.16904-5T>C splice site 0.00001723
121. 179596702 c.16904-4G>A splice site 0.00000862
122. 179596697 c.16905G>A splice site 0.00000859
123. 179596319 c.17183-9T>C splice site 0.00141412
124. 179596317 c.17183-7C>T splice site 0.00121112
125. 179596309 c.17184A>G p.E5728E splice site 0.00005235
126. 179596028 c.17461+4G>T splice site 0.00000830
127. 179595528 c.17741-9A>G splice site 0.00288901
128. 179595525 c.17741-6G>A splice site 0.00002633
129. 179594680 c.18308-8A>G splice site 0.00000968
130. 179594386 c.18589+5G>A splice site 0.00003319
131. 179593895 c.18870A>G splice site 0.00001852
132. 179593614 c.19147+4T>C splice site 0.00003529
133. 179593612 c.19147+6T>C splice site 0.00000883
134. 179593510 c.19148-5_19148-3delTAC splice site 0.00000860
135. 179593221 c.19426+6T>C splice site 0.00000892
136. 179593220 c.19426+7A>G splice site 0.00001786
137. 179592838 c.19713A>G splice site 0.00001145
138. 179592594 c.19715-4A>G splice site 0.00003737
139. 179592308 c.19993+4T>C splice site 0.00002707
140. 179592306 c.19993+6C>A splice site 0.00000904
141. 179591811 c.20275+6C>T splice site 0.00002697
142. 179591811 c.20275+6C>G splice site 0.00001798
143. 179590778 c.20276-5delT splice site 0.00001812
144. 179590777 c.20276-4G>A splice site 0.00000906
145. 179590490 c.20554+5A>G splice site 0.00002676
146. 179590487 c.20554+8T>C splice site 0.00000893
147. 179589271 c.20837-6T>C splice site 0.00003720
148. 179588577 c.21403+6T>C splice site 0.00000880
149. 179588431 c.21404-8C>G splice site 0.00004843
150. 179588429 c.21404-6A>G splice site 0.00001931
151. 179588429 c.21404-6A>C splice site 0.00000965
152. 179588427 c.21404-4A>G splice site 0.00052937
153. 179587670 c.21962-6C>T splice site 0.00018876
154. 179587383 c.22240+3G>A splice site 0.00006809
155. 179587381 c.22240+5T>C splice site 0.00004258
156. 179587379 c.22240+7A>C splice site 0.00008525
157. 179587280 c.22241-7C>G splice site 0.00000843
158. 179587278 c.22241-5T>C splice site 0.00002529
159. 179586868 c.22529-7C>A splice site 0.00000897
160. 179585937 c.22817-8T>G splice site 0.00001270
161. 179585928 c.22818A>G splice site 0.00001169
162. 179585398 c.23099-8dupT splice site 0.00001960
163. 179585395 c.23099-5G>T splice site 0.00000968
164. 179585393 c.23099-3T>C splice site 0.32315554
165. 179585389 c.23100A>T splice site 0.00001813
166. 179585105 c.23377+7A>G splice site 0.00001706
167. 179584566 c.23660-7_23660-5delCTT splice site 0.00008082
168. 179584566 c.23660-7C>T splice site 0.00022633
169. 179584566 c.23660-7C>G splice site 0.00000905
170. 179584275 c.23938+6T>C splice site 0.00000875
171. 179584182 c.23939-4A>T splice site 0.00008500
172. 179584182 c.23939-4A>G splice site 0.00002550
173. 179583335 c.24506-8C>G splice site 0.00009250
174. 179583330 c.24506-3T>C splice site 0.00000840
175. 179582951 c.24785-3T>C splice site 0.00000858
176. 179582663 c.25063+7G>A splice site 0.00000837
177. 179582542 c.25064-5T>C splice site 0.00000860
178. 179582541 c.25064-4A>G splice site 0.00001720
179. 179582536 c.25065G>A splice site 0.00004273
180. 179582251 c.25350A>G p.S8450S splice site 0.00001782
181. 179582243 c.25351+7A>G splice site 0.00002694
182. 179582242 c.25351+8A>T splice site 0.00000899
183. 179581818 c.25639+4C>T splice site 0.00000879
184. 179580215 c.25921+5G>C splice site 0.00000850
185. 179580213 c.25921+7G>A splice site 0.00001709
186. 179580210 c.25921+10C>T splice site 0.07605923
187. 179579708 c.26200+5G>A splice site 0.00000890
188. 179579309 c.26201-9T>C splice site 0.00000962
189. 179579307 c.26201-7dupT splice site 0.00001921
190. 179579305 c.26201-5A>T splice site 0.00010384
191. 179579020 c.26481C>T splice site 0.00002508
192. 179578906 c.26483-4C>T splice site 0.00003351
193. 179578620 c.26761+4G>A splice site 0.00001714
194. 179577708 c.27050-6G>A splice site 0.00005190
195. 179577419 c.27328+5G>A splice site 0.00045878
196. 179576672 c.27885A>G splice site 0.00000897
197. 179576668 c.27886+3G>A splice site 0.00011727
198. 179576665 c.27886+6T>G splice site 0.00000904
199. 179575657 c.28175-8A>G splice site 0.00000850
200. 179575655 c.28175-6T>C splice site 0.00007641
201. 179575356 c.28462+6G>A splice site 0.00000851
202. 179575356 c.28462+6G>T splice site 0.00000851
203. 179575351 c.28462+11T>C splice site 0.00023990
204. 179574587 c.28463-4A>G splice site 0.00000848
205. 179574586 c.28463-3T>C splice site 0.00000847
206. 179572551 c.28754-11T>C splice site 0.00006054
207. 179572543 c.28754-3C>T splice site 0.00001718
208. 179571583 c.29134+6T>C splice site 0.00000966
209. 179570090 c.29421-6A>G splice site 0.00003386
210. 179569699 c.29605-6_29605-4delTCT splice site 0.00000829
211. 179569697 c.29605-4T>C splice site 0.00000829
212. 179568869 c.30223+5G>A splice site 0.00002503
213. 179568869 c.30223+5G>C splice site 0.00000834
214. 179567398 c.30224-8T>G splice site 0.00392632
215. 179567398 c.30224-8T>A splice site 0.00001730
216. 179567397 c.30224-7T>G splice site 0.00011211
217. 179567174 c.30433+7delT splice site 0.00000829
218. 179567170 c.30433+11T>G splice site 0.00058036
219. 179566892 c.30511+3G>A splice site 0.00009940
220. 179566889 c.30511+6G>T splice site 0.00000828
221. 179566798 c.30512-5delT splice site 0.00001042
222. 179566322 c.30539-8C>T splice site 0.00000829
223. 179566318 c.30539-4C>A splice site 0.00001657
224. 179566252 c.30598+3A>T splice site 0.00001664
225. 179566249 c.30598+6A>G splice site 0.00000833
226. 179566247 c.30598+8C>T splice site 0.00000833
227. 179565840 c.30682+7T>C splice site 0.00001656
228. 179560067 c.31270+8delA splice site 0.00000830
229. 179559553 c.31348+3A>T splice site 0.00004069
230. 179558743 c.31427-8_31427-7delCT splice site 0.00002280
231. 179558742 c.31427-7T>C splice site 0.00001145
232. 179558644 c.31513+5A>G splice site 0.00000912
233. 179558420 c.31514-4delT splice site 0.00009870
234. 179558332 c.31594+4T>C splice site 0.00002317
235. 179558328 c.31594+8T>C splice site 0.00001230
236. 179556739 c.31762+4C>T splice site 0.00009218
237. 179556738 c.31762+5G>A splice site 0.00035227
238. 179556738 c.31762+5_31762+7delGCC splice site 0.00014268
239. 179554631 c.31763-8A>C splice site 0.00000828
240. 179554535 c.31846+5A>G splice site 0.00000830
241. 179554107 c.31928-7C>T splice site 0.00000847
242. 179554018 c.32010A>G splice site 0.00000835
243. 179554007 c.32011+10C>G splice site 0.00138015
244. 179553510 c.32096-5T>G splice site 0.00000847
245. 179553504 c.32097T>C splice site 0.00000841
246. 179553401 c.32197+3A>G splice site 0.00000829
247. 179553396 c.32197+8delA splice site 0.00000830
248. 179552960 c.32198-9C>A splice site 0.00001658
249. 179552959 c.32198-8T>A splice site 0.00000829
250. 179552950 c.32199A>G splice site 0.00000829
251. 179552832 c.32311+6C>A splice site 0.00000832
252. 179550246 c.32391A>G splice site 0.00001038
253. 179550239 c.32392+6C>T splice site 0.00004474
254. 179549722 c.32471-6C>T splice site 0.00003602
255. 179549628 c.32554+5_32554+6delAT splice site 0.00016837
256. 179549487 c.32555-11T>A splice site 0.00001679
257. 179549484 c.32555-8C>A splice site 0.00000837
258. 179549482 c.32555-6T>C splice site 0.00034276
259. 179549148 c.32639-8C>A splice site 0.00004401
260. 179549049 c.32722+8C>T splice site 0.00005222
261. 179549048 c.32722+9G>A splice site 0.00858485
262. 179548819 c.32723-10C>G splice site 0.00000835
263. 179548814 c.32723-5T>C splice site 0.00000833
264. 179548727 c.32805A>G splice site 0.00000838
265. 179548721 c.32806+5A>G splice site 0.00010939
266. 179548028 c.32807-10T>A splice site 0.00082318
267. 179547637 c.32888-7G>A splice site 0.00001378
268. 179547633 c.32888-3C>A splice site 0.00001300
269. 179546384 c.33172+4G>A splice site 0.00007477
270. 179546185 c.33173-8T>C splice site 0.00000947
271. 179546182 c.33173-5T>C splice site 0.00001872
272. 179545906 c.33248-8C>G splice site 0.00000932
273. 179545902 c.33248-4A>G splice site 0.00000925
274. 179545897 c.33249G>T splice site 0.00007245
275. 179545801 c.33340+5A>C splice site 0.00001727
276. 179545796 c.33340+10T>C splice site 0.00243478
277. 179544977 c.33418+4C>A splice site 0.00002486
278. 179544977 c.33418+4C>G splice site 0.00000829
279. 179544975 c.33418+6T>G splice site 0.00002486
280. 179544973 c.33418+8A>G splice site 0.00001657
281. 179544790 c.33419-8C>T splice site 0.00000835
282. 179544790 c.33419-8C>A splice site 0.00000835
283. 179544787 c.33419-5T>A splice site 0.00000835
284. 179544616 c.33580+5A>C splice site 0.00001663
285. 179544142 c.33666G>T splice site 0.00001667
286. 179544058 c.33742+8C>T splice site 0.00070832
287. 179544055 c.33742+11A>G splice site 0.00192564
288. 179543470 c.33826+4C>T splice site 0.00000832
289. 179543469 c.33826+5A>C splice site 0.00001665
290. 179543469 c.33826+5A>G splice site 0.00001665
291. 179543467 c.33826+7G>A splice site 0.00000833
292. 179543232 c.33827-8C>T splice site 0.00025761
293. 179542943 c.33911-8C>A splice site 0.00006677
294. 179542942 c.33911-7T>C splice site 0.00000834
295. 179542941 c.33911-6_33911-5insG splice site 0.00005001
296. 179542649 c.33995-5T>G splice site 0.00000850
297. 179542649 c.33995-5T>C splice site 0.00002551
298. 179542342 c.34291+6G>A splice site 0.00001899
299. 179540727 c.34379-5T>C splice site 0.00003416
300. 179540644 c.34453+4T>A splice site 0.00001383
301. 179540642 c.34453+6delG splice site 0.00002821
302. 179539846 c.34538-6C>T splice site 0.00000857
303. 179539845 c.34538-5T>A splice site 0.00000857
304. 179539763 c.34612+3A>G splice site 0.00000968
305. 179539760 c.34612+6T>C splice site 0.00000992
306. 179539141 c.34613-5T>C splice site 0.00004471
307. 179539135 c.34614G>A splice site 0.00003640
308. 179539033 c.34708+8C>A splice site 0.00106697
309. 179539033 c.34708+8C>T splice site 0.00005472
310. 179538352 c.34786+8A>G splice site 0.00005057
311. 179537434 c.34787-4A>C splice site 0.00006062
312. 179537355 c.34855+7C>T splice site 0.00000908
313. 179535906 c.35228-9T>A splice site 0.00011316
314. 179535905 c.35228-8C>A splice site 0.00003078
315. 179535813 c.35308+4T>A splice site 0.00000928
316. 179532455 c.35546-7T>C splice site 0.00002672
317. 179532362 c.35629+3A>G splice site 0.00000887
318. 179532258 c.35630-6T>C splice site 0.00000959
319. 179532170 c.35712A>G splice site 0.00001369
320. 179531959 c.35797+4T>C splice site 0.00002704
321. 179531635 c.35798-7T>G splice site 0.00004961
322. 179531543 c.35875+8T>G splice site 0.00068108
323. 179530100 c.36043+4C>T splice site 0.00001740
324. 179530099 c.36043+5G>A splice site 0.00000870
325. 179530098 c.36043+6T>C splice site 0.00002609
326. 179529575 c.36118+4C>T splice site 0.00000979
327. 179529463 c.36120G>T splice site 0.00000883
328. 179529378 c.36202+3A>G splice site 0.00001752
329. 179529273 c.36203-9T>C splice site 0.03397272
330. 179529272 c.36203-8C>T splice site 0.00000871
331. 179528833 c.36281-8C>A splice site 0.00000884
332. 179528636 c.36365-7T>C splice site 0.00001724
333. 179528541 c.36448+5T>G splice site 0.00000861
334. 179528445 c.36449-8C>A splice site 0.00001705
335. 179528355 c.36531A>G splice site 0.00000845
336. 179528349 c.36532+5T>C splice site 0.00000843
337. 179528348 c.36532+6T>C splice site 0.00000843
338. 179519027 c.38297-9T>A splice site 0.00023338
339. 179518925 c.38380+10C>T splice site 0.00019560
340. 179518056 c.38708-8C>A splice site 0.00000856
341. 179517960 c.38791+5T>G splice site 0.00000848
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535. 179463226 c.57111+7_57111+9delAAA splice site 0.00000841
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539. 179462552 c.57263-6T>G splice site 0.00000834
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541. 179462257 c.57544+8_57544+9insA splice site 0.00002482
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682. 179394681 c.106531+6T>C splice site 0.00002488
683. 179393160 c.107224-6T>C splice site 0.00002542
684. 179393002 c.107376T>C splice site 0.00000830
685. 179392997 c.107377+4A>G splice site 0.00000831
686. 179392996 c.107377+5G>T splice site 0.00000831
687. 179392996 c.107377+5G>A splice site 0.00000831
688. 179392478 c.107378-3C>T splice site 0.00000924
689. 179392165 c.107680+8A>G splice site 0.00000846
690. 179392041 c.107681-7C>T splice site 0.00001778
691. 179392038 c.107681-4A>C splice site 0.00001771
692. 179392038 c.107681-4A>G splice site 0.00000885
693. 0 c.26762-14_26762-10dupTTTGT splice site 0.14286640

* 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.