TTN splice variants in ExAC

TTN gene summary
TTN variants in

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 frequency▼Populations*
1. 179642425 c.4480+6C>T splice site 0.95877028●●●●●●
2. 179406003 c.97795+6G>T splice site 0.38296669●●●●●●
3. 179585393 c.23099-3T>C splice site 0.32315554●●●●●●
4. 179404786 c.98098+9T>A splice site 0.18308465●●●●●●
5. 0 c.26762-14_26762-10dupTTTGT splice site 0.14286640●●●●●●
6. 179580210 c.25921+10C>T splice site 0.07605923●●●●●●
7. 179529273 c.36203-9T>C splice site 0.03397272●●●●●●
8. 179444289 c.67635T>C p.V22545V splice site 0.03054708●●●●●●
9. 179414705 c.91852+8T>A splice site 0.02756241●●●●●●
10. 179515472 c.39709+6C>T splice site 0.01027222●●●●●●
11. 179549048 c.32722+9G>A splice site 0.00858485●●●●●●
12. 179486478 c.45083-10A>G splice site 0.00757325●●●●●●
13. 179458601 c.58433-7dupT splice site 0.00558596●●●●●●
14. 179480360 c.48460+8C>T splice site 0.00479096●●●●●●
15. 179458601 c.58433-7delT splice site 0.00410460●●●●●●
16. 179567398 c.30224-8T>G splice site 0.00392632●●●●●●
17. 179659118 c.1398+8C>T splice site 0.00350088●●●●●●
18. 179512101 c.40141+7G>A splice site 0.00340177●●●●●●
19. 179595528 c.17741-9A>G splice site 0.00288901●●●●●●
20. 179441148 c.69716-5C>G splice site 0.00267165●●●●●●
21. 179545796 c.33340+10T>C splice site 0.00243478●●●●●●
22. 179656928 c.1537-4G>A splice site 0.00215473●●●●●●
23. 179510640 c.40408+7_40408+10dupAATG splice site 0.00194920●●●●●●
24. 179544055 c.33742+11A>G splice site 0.00192564●●●●●●
25. 179469715 c.54189T>C p.Y18063Y splice site 0.00169004●●●●●●
26. 179422286 c.87707-4G>T splice site 0.00165843●●●●●●
27. 179482807 c.47271T>C p.D15757D splice site 0.00150822●●●●●●
28. 179499886 c.42024+6T>C splice site 0.00147039●●●●●●
29. 179596319 c.17183-9T>C splice site 0.00141412●●●●●●
30. 179554007 c.32011+10C>G splice site 0.00138015●●●●●●
31. 179628899 c.10114+5G>A splice site 0.00131050●●●●●●
32. 179596317 c.17183-7C>T splice site 0.00121112●●●●●●
33. 179539033 c.34708+8C>A splice site 0.00106697●●●●●●
34. 179517175 c.39127+10A>C splice site 0.00084258●●●●●●
35. 179548028 c.32807-10T>A splice site 0.00082318●●●●●●
36. 179517267 c.39045G>C p.V13015V splice site 0.00077673●●●●●●
37. 179597160 c.16621+7A>T splice site 0.00071929●●●●●●
38. 179544058 c.33742+8C>T splice site 0.00070832●●●●●●
39. 179531543 c.35875+8T>G splice site 0.00068108●●●●●●
40. 179510639 c.40408+8delA splice site 0.00067770●●●●●●
41. 179648793 c.2775+4G>A splice site 0.00060176●●●●●●
42. 179467322 c.54812-5A>G splice site 0.00058041●●●●●●
43. 179567170 c.30433+11T>G splice site 0.00058036●●●●●●
44. 179516985 c.39211+6C>T splice site 0.00053021●●●●●●
45. 179588427 c.21404-4A>G splice site 0.00052937●●●●●●
46. 179441640 c.69412+10G>C splice site 0.00052316●●●●●●
47. 179497150 c.43481-10_43481-9insT splice site 0.00046075●●●●●●
48. 179577419 c.27328+5G>A splice site 0.00045878●●●●●●
49. 179513971 c.40057+4C>T splice site 0.00045752●●●●●●
50. 179500975 c.41330-7T>A splice site 0.00043245●●●●●●
51. 179597857 c.16055-9A>C splice site 0.00041440●●●●●●
52. 179448324 c.65575+10T>C splice site 0.00035721●●●●●●
53. 179556738 c.31762+5G>A splice site 0.00035227●●●●●●
54. 179549482 c.32555-6T>C splice site 0.00034276●●●●●●
55. 179517277 c.39044-9T>A splice site 0.00032587●●●●●●
56. 179448641 c.65276-8T>C splice site 0.00027171●●●●●●
57. 179462789 c.57112-4C>T splice site 0.00026562●●●●●●
58. 179543232 c.33827-8C>T splice site 0.00025761●●●●●●
59. 179659122 c.1398+4C>T splice site 0.00025535●●●●●●
60. 179505366 c.40634-9A>G splice site 0.00024150●●●●●●
61. 179575351 c.28462+11T>C splice site 0.00023990●●●●●●
62. 179519027 c.38297-9T>A splice site 0.00023338●●●●●●
63. 179584566 c.23660-7C>T splice site 0.00022633●●●●●●
64. 179404102 c.98683+7G>C splice site 0.00021879●●●●●●
65. 179407788 c.96904+8C>T splice site 0.00021314●●●●●●
66. 179518925 c.38380+10C>T splice site 0.00019560●●●●●●
67. 179494177 c.44282-7C>T splice site 0.00019126●●●●●●
68. 179587670 c.21962-6C>T splice site 0.00018876●●●●●●
69. 179457499 c.59344+3G>A splice site 0.00018290●●●●●●
70. 179549628 c.32554+5_32554+6delAT splice site 0.00016837●●●●●●
71. 179597157 c.16621+10G>A splice site 0.00016515●●●●●●
72. 179443336 c.68329+2_68329+3insTT splice site 0.00016461●●●●●●
73. 179489991 c.44548+9A>G splice site 0.00014929●●●●●●
74. 179659121 c.1398+5G>A splice site 0.00014826●●●●●●
75. 179470136 c.53881+5G>A splice site 0.00014649●●●●●●
76. 179597847 c.16056T>C p.D5352D splice site 0.00014323●●●●●●
77. 179556738 c.31762+5_31762+7delGCC splice site 0.00014268●●●●●●
78. 179407792 c.96904+4T>C splice site 0.00014178●●●●●●
79. 179483585 c.46697-5A>G splice site 0.00013796●●●●●●
80. 179496034 c.43748-7C>T splice site 0.00013725●●●●●●
81. 179441248 c.69715+8T>C splice site 0.00013295●●●●●●
82. 179642139 c.4645+8G>T splice site 0.00013152●●●●●●
83. 179514067 c.39974-9T>C splice site 0.00012355●●●●●●
84. 179576668 c.27886+3G>A splice site 0.00011727●●●●●●
85. 179472122 c.53287+6G>A splice site 0.00011625●●●●●●
86. 179516983 c.39211+8C>T splice site 0.00011597●●●●●●
87. 179535906 c.35228-9T>A splice site 0.00011316●●●●●●
88. 179567397 c.30224-7T>G splice site 0.00011211●●●●●●
89. 179404792 c.98098+3G>A splice site 0.00011199●●●●●●
90. 179548721 c.32806+5A>G splice site 0.00010939●●●●●●
91. 179505367 c.40634-10T>A splice site 0.00010826●●●●●●
92. 179514620 c.39819G>T splice site 0.00010792●●●●●●
93. 179623903 c.10115-4G>A splice site 0.00010761●●●●●●
94. 179620943 c.11254+6T>C splice site 0.00010537●●●●●●
95. 179579305 c.26201-5A>T splice site 0.00010384●●●●●●
96. 179480210 c.48462G>A p.T16154T splice site 0.00009962●●●●●●
97. 179566892 c.30511+3G>A splice site 0.00009940●●●●●●
98. 179558420 c.31514-4delT splice site 0.00009870●●●●●●
99. 179583335 c.24506-8C>G splice site 0.00009250●●●●●●
100. 179556739 c.31762+4C>T splice site 0.00009218●●●●●●
101. 179516055 c.39548-8A>G splice site 0.00009157●●●●●●
102. 179445040 c.67057+9A>G splice site 0.00009154●●●●●●
103. 179468595 c.54811+8T>C splice site 0.00008850●●●●●●
104. 179587379 c.22240+7A>C splice site 0.00008525●●●●●●
105. 179584182 c.23939-4A>T splice site 0.00008500●●●●●●
106. 179476001 c.50858-3C>T splice site 0.00008424●●●●●●
107. 179402650 c.99290-6G>A splice site 0.00008396●●●●●●
108. 179584566 c.23660-7_23660-5delCTT splice site 0.00008082●●●●●●
109. 179469429 c.54381+6C>G splice site 0.00007798●●●●●●
110. 179407675 c.96906G>A p.V32302V splice site 0.00007654●●●●●●
111. 179575655 c.28175-6T>C splice site 0.00007641●●●●●●
112. 179517959 c.38791+6T>C splice site 0.00007636●●●●●●
113. 179421567 c.88306+8T>C splice site 0.00007557●●●●●●
114. 179407383 c.97192+6G>A splice site 0.00007553●●●●●●
115. 179445043 c.67057+6T>C splice site 0.00007485●●●●●●
116. 179546384 c.33172+4G>A splice site 0.00007477●●●●●●
117. 179545897 c.33249G>T splice site 0.00007245●●●●●●
118. 179482046 c.47760+6T>C splice site 0.00007052●●●●●●
119. 179487498 c.44816-4A>G splice site 0.00006813●●●●●●
120. 179587383 c.22240+3G>A splice site 0.00006809●●●●●●
121. 179408557 c.96310+4A>T splice site 0.00006711●●●●●●
122. 179542943 c.33911-8C>A splice site 0.00006677●●●●●●
123. 179513971 c.40057+4C>G splice site 0.00006536●●●●●●
124. 179513970 c.40057+5C>T splice site 0.00006529●●●●●●
125. 179513966 c.40057+9C>T splice site 0.00006524●●●●●●
126. 179481965 c.47761-4G>A splice site 0.00006400●●●●●●
127. 179506959 c.40558+5A>C splice site 0.00006187●●●●●●
128. 179512102 c.40141+6C>T splice site 0.00006070●●●●●●
129. 179537434 c.34787-4A>C splice site 0.00006062●●●●●●
130. 179572551 c.28754-11T>C splice site 0.00006054●●●●●●
131. 179462550 c.57263-4C>T splice site 0.00005837●●●●●●
132. 179457099 c.59626+7delA splice site 0.00005832●●●●●●
133. 179506965 c.40557C>T p.S13519S splice site 0.00005761●●●●●●
134. 179539033 c.34708+8C>T splice site 0.00005472●●●●●●
135. 179458289 c.58732+6C>T splice site 0.00005247●●●●●●
136. 179600229 c.14935+9C>T splice site 0.00005243●●●●●●
137. 179596309 c.17184A>G p.E5728E splice site 0.00005235●●●●●●
138. 179549049 c.32722+8C>T splice site 0.00005222●●●●●●
139. 179599719 c.14936-4G>T splice site 0.00005209●●●●●●
140. 179577708 c.27050-6G>A splice site 0.00005190●●●●●●
141. 179603863 c.14092+5G>A splice site 0.00005178●●●●●●
142. 179499086 c.42415+7G>A splice site 0.00005148●●●●●●
143. 179406315 c.97493-4G>T splice site 0.00005064●●●●●●
144. 179538352 c.34786+8A>G splice site 0.00005057●●●●●●
145. 179456630 c.59927-11T>A splice site 0.00005002●●●●●●
146. 179542941 c.33911-6_33911-5insG splice site 0.00005001●●●●●●
147. 179494176 c.44282-6G>A splice site 0.00004989●●●●●●
148. 179531635 c.35798-7T>G splice site 0.00004961●●●●●●
149. 179588431 c.21404-8C>G splice site 0.00004843●●●●●●
150. 179550239 c.32392+6C>T splice site 0.00004474●●●●●●
151. 179539141 c.34613-5T>C splice site 0.00004471●●●●●●
152. 179444124 c.67637-4A>G splice site 0.00004456●●●●●●
153. 179448335 c.65574T>C p.N21858N splice site 0.00004427●●●●●●
154. 179549148 c.32639-8C>A splice site 0.00004401●●●●●●
155. 179418222 c.89503+7A>T splice site 0.00004355●●●●●●
156. 179582536 c.25065G>A splice site 0.00004273●●●●●●
157. 179587381 c.22240+5T>C splice site 0.00004258●●●●●●
158. 179509347 c.40409-4A>C splice site 0.00004182●●●●●●
159. 179449309 c.64973-4C>G splice site 0.00004158●●●●●●
160. 179480363 c.48460+5G>A splice site 0.00004145●●●●●●
161. 179631104 c.9703+4T>C splice site 0.00004124●●●●●●
162. 179559553 c.31348+3A>T splice site 0.00004069●●●●●●
163. 179600228 c.14935+10G>A splice site 0.00004025●●●●●●
164. 179592594 c.19715-4A>G splice site 0.00003737●●●●●●
165. 179589271 c.20837-6T>C splice site 0.00003720●●●●●●
166. 179470137 c.53881+4C>T splice site 0.00003644●●●●●●
167. 179539135 c.34614G>A splice site 0.00003640●●●●●●
168. 179549722 c.32471-6C>T splice site 0.00003602●●●●●●
169. 179444126 c.67637-6T>C splice site 0.00003568●●●●●●
170. 179515475 c.39709+3A>G splice site 0.00003553●●●●●●
171. 179593614 c.19147+4T>C splice site 0.00003529●●●●●●
172. 179487501 c.44816-7C>T splice site 0.00003471●●●●●●
173. 179669272 c.91+7T>C splice site 0.00003443●●●●●●
174. 179665414 c.296-5C>T splice site 0.00003434●●●●●●
175. 179407293 c.97193-3T>C splice site 0.00003426●●●●●●
176. 179540727 c.34379-5T>C splice site 0.00003416●●●●●●
177. 179570090 c.29421-6A>G splice site 0.00003386●●●●●●
178. 179414290 c.92152+7T>G splice site 0.00003382●●●●●●
179. 179414298 c.92151T>C p.Y30717Y splice site 0.00003366●●●●●●
180. 179578906 c.26483-4C>T splice site 0.00003351●●●●●●
181. 179642051 c.4646-7C>A splice site 0.00003348●●●●●●
182. 179481361 c.48161-4delT splice site 0.00003345●●●●●●
183. 179638103 c.7595-7delT splice site 0.00003333●●●●●●
184. 179594386 c.18589+5G>A splice site 0.00003319●●●●●●
185. 179659983 c.915-4dupT splice site 0.00003308●●●●●●
186. 179500448 c.41609-6A>G splice site 0.00003298●●●●●●
187. 179506957 c.40558+7T>C splice site 0.00003167●●●●●●
188. 179401662 c.100171+3G>A splice site 0.00003114●●●●●●
189. 179535905 c.35228-8C>A splice site 0.00003078●●●●●●
190. 179516698 c.39296-4A>G splice site 0.00002989●●●●●●
191. 179510639 c.40408+8dupA splice site 0.00002824●●●●●●
192. 179540642 c.34453+6delG splice site 0.00002821●●●●●●
193. 179600806 c.14372-5T>C splice site 0.00002775●●●●●●
194. 179622651 c.10304-8C>G splice site 0.00002753●●●●●●
195. 179599721 c.14936-6A>G splice site 0.00002728●●●●●●
196. 179592308 c.19993+4T>C splice site 0.00002707●●●●●●
197. 179501525 c.40929T>C splice site 0.00002706●●●●●●
198. 179531959 c.35797+4T>C splice site 0.00002704●●●●●●
199. 179591811 c.20275+6C>T splice site 0.00002697●●●●●●
200. 179582243 c.25351+7A>G splice site 0.00002694●●●●●●
201. 179414599 c.91853-3T>C splice site 0.00002679●●●●●●
202. 179590490 c.20554+5A>G splice site 0.00002676●●●●●●
203. 179532455 c.35546-7T>C splice site 0.00002672●●●●●●
204. 179599720 c.14936-5T>C splice site 0.00002668●●●●●●
205. 179442330 c.68823C>T p.Y22941Y splice site 0.00002636●●●●●●
206. 179595525 c.17741-6G>A splice site 0.00002633●●●●●●
207. 179459378 c.57848-5C>T splice site 0.00002630●●●●●●
208. 179459377 c.57848-4G>A splice site 0.00002627●●●●●●
209. 179442633 c.68528-8T>C splice site 0.00002625●●●●●●
210. 179530098 c.36043+6T>C splice site 0.00002609●●●●●●
211. 179483588 c.46697-8C>A splice site 0.00002591●●●●●●
212. 179443447 c.68225-5T>C splice site 0.00002560●●●●●●
213. 179542649 c.33995-5T>C splice site 0.00002551●●●●●●
214. 179584182 c.23939-4A>G splice site 0.00002550●●●●●●
215. 179447024 c.66159T>C splice site 0.00002547●●●●●●
216. 179393160 c.107224-6T>C splice site 0.00002542●●●●●●
217. 179587278 c.22241-5T>C splice site 0.00002529●●●●●●
218. 179579020 c.26481C>T splice site 0.00002508●●●●●●
219. 179474722 c.51437-9G>A splice site 0.00002507●●●●●●
220. 179408841 c.96030A>G p.E32010E splice site 0.00002506●●●●●●
221. 179568869 c.30223+5G>A splice site 0.00002503●●●●●●
222. 179477802 c.49649-3C>T splice site 0.00002502●●●●●●
223. 179421972 c.88009+8T>C splice site 0.00002498●●●●●●
224. 179482917 c.47268T>C splice site 0.00002492●●●●●●
225. 179480215 c.48461-4G>A splice site 0.00002491●●●●●●
226. 179394681 c.106531+6T>C splice site 0.00002488●●●●●●
227. 179517081 c.39128-7T>C splice site 0.00002488●●●●●●
228. 179544977 c.33418+4C>A splice site 0.00002486●●●●●●
229. 179544975 c.33418+6T>G splice site 0.00002486●●●●●●
230. 179623904 c.10115-5C>T splice site 0.00002483●●●●●●
231. 179462257 c.57544+8_57544+9insA splice site 0.00002482●●●●●●
232. 179633395 c.9163+5G>C splice site 0.00002479●●●●●●
233. 179664549 c.669+3A>G splice site 0.00002477●●●●●●
234. 179664206 c.914+8T>C splice site 0.00002474●●●●●●
235. 179631105 c.9703+3A>G splice site 0.00002474●●●●●●
236. 179479570 c.48760+4T>A splice site 0.00002428●●●●●●
237. 179497149 c.43481-9delT splice site 0.00002425●●●●●●
238. 179486733 c.44916T>A p.V14972V splice site 0.00002395●●●●●●
239. 179558332 c.31594+4T>C splice site 0.00002317●●●●●●
240. 179496034 c.43748-7delC splice site 0.00002283●●●●●●
241. 179558743 c.31427-8_31427-7delCT splice site 0.00002280●●●●●●
242. 179419171 c.88894+9T>C splice site 0.00002186●●●●●●
243. 179510765 c.40298-8C>A splice site 0.00002154●●●●●●
244. 179500974 c.41330-6C>T splice site 0.00002066●●●●●●
245. 179502149 c.40877-3_40877-2insAT splice site 0.00002064●●●●●●
246. 179502149 c.40877-3C>A splice site 0.00002064●●●●●●
247. 179452149 c.63794-5T>C splice site 0.00002038●●●●●●
248. 179496867 c.43747+7G>A splice site 0.00002003●●●●●●
249. 179472899 c.52705+6T>C splice site 0.00001997●●●●●●
250. 179585398 c.23099-8dupT splice site 0.00001960●●●●●●
251. 179481848 c.47874T>C splice site 0.00001944●●●●●●
252. 179588429 c.21404-6A>G splice site 0.00001931●●●●●●
253. 179579307 c.26201-7dupT splice site 0.00001921●●●●●●
254. 179542342 c.34291+6G>A splice site 0.00001899●●●●●●
255. 179546182 c.33173-5T>C splice site 0.00001872●●●●●●
256. 179515471 c.39709+7G>A splice site 0.00001865●●●●●●
257. 179515569 c.39626-8C>A splice site 0.00001858●●●●●●
258. 179470444 c.53582-4A>G splice site 0.00001853●●●●●●
259. 179593895 c.18870A>G splice site 0.00001852●●●●●●
260. 179481839 c.47875+8G>T splice site 0.00001829●●●●●●
261. 179481843 c.47875+4_47875+7delAATA splice site 0.00001829●●●●●●
262. 179585389 c.23100A>T splice site 0.00001813●●●●●●
263. 179590778 c.20276-5delT splice site 0.00001812●●●●●●
264. 179460535 c.57546T>C p.D19182D splice site 0.00001810●●●●●●
265. 179442244 c.68825-7T>A splice site 0.00001807●●●●●●
266. 179403259 c.99289+8G>A splice site 0.00001806●●●●●●
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588. 179462552 c.57263-6T>C splice site 0.00000834●●●●●●
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600. 179566249 c.30598+6A>G splice site 0.00000833●●●●●●
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626. 179392996 c.107377+5G>A splice site 0.00000831●●●●●●
627. 179516816 c.39295+7dupA splice site 0.00000831●●●●●●
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652. 179569699 c.29605-6_29605-4delTCT splice site 0.00000829●●●●●●
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671. 179664544 c.669+8T>C splice site 0.00000826●●●●●●
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679. 179634783 c.8641+4_8641+7delAGTA splice site 0.00000825●●●●●●
680. 179641873 c.4814+3A>G splice site 0.00000825●●●●●●
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684. 179632659 c.9306-8A>T splice site 0.00000825●●●●●●
685. 179655427 c.1800+8C>G splice site 0.00000824●●●●●●
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688. 179650475 c.2371-6A>G splice site 0.00000824●●●●●●
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691. 179655432 c.1800+3G>A splice site 0.00000824●●●●●●
692. 179650467 c.2373C>A splice site 0.00000824●●●●●●
693. 179650472 c.2371-3C>T splice site 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.