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. 179406003 c.97795+6G>T splice site 0.38296669
2. 179414705 c.91852+8T>A splice site 0.02756241
3. 179441148 c.69716-5C>G splice site 0.00267165
4. 179444289 c.67635T>C p.V22545V splice site 0.03054708
5. 179462789 c.57112-4C>T splice site 0.00026562
6. 179469715 c.54189T>C p.Y18063Y splice site 0.00169004
7. 179480360 c.48460+8C>T splice site 0.00479096
8. 179482807 c.47271T>C p.D15757D splice site 0.00150822
9. 179515472 c.39709+6C>T splice site 0.01027222
10. 179567398 c.30224-8T>G splice site 0.00392632
11. 179585393 c.23099-3T>C splice site 0.32315554
12. 179588427 c.21404-4A>G splice site 0.00052937
13. 179590777 c.20276-4G>A splice site 0.00000906
14. 179597160 c.16621+7A>T splice site 0.00071929
15. 179628899 c.10114+5G>A splice site 0.00131050
16. 179642425 c.4480+6C>T splice site 0.95877028
17. 179656928 c.1537-4G>A splice site 0.00215473
18. 179659118 c.1398+8C>T splice site 0.00350088
19. 179666860 c.295+5G>A splice site 0.00001648
20. 179404102 c.98683+7G>C splice site 0.00021879
21. 179408841 c.96030A>G p.E32010E splice site 0.00002506
22. 179421975 c.88009+5G>A splice site 0.00001665
23. 179457499 c.59344+3G>A splice site 0.00018290
24. 179472122 c.53287+6G>A splice site 0.00011625
25. 179481839 c.47875+8G>T splice site 0.00001829
26. 179499886 c.42024+6T>C splice site 0.00147039
27. 179506959 c.40558+5A>C splice site 0.00006187
28. 179556738 c.31762+5G>A splice site 0.00035227
29. 179642139 c.4645+8G>T splice site 0.00013152
30. 179664549 c.669+3A>G splice site 0.00002477
31. 179414298 c.92151T>C p.Y30717Y splice site 0.00003366
32. 179470137 c.53881+4C>T splice site 0.00003644
33. 179476681 c.50355A>G p.R16785R splice site 0.00000853
34. 179483585 c.46697-5A>G splice site 0.00013796
35. 179516985 c.39211+6C>T splice site 0.00053021
36. 179517267 c.39045G>C p.V13015V splice site 0.00077673
37. 179550239 c.32392+6C>T splice site 0.00004474
38. 179582251 c.25350A>G p.S8450S splice site 0.00001782
39. 179655427 c.1800+8C>G splice site 0.00000824
40. 179444661 c.67348+5G>A splice site 0.00000832
41. 179442324 c.68824+5G>C splice site 0.00000889
42. 179407675 c.96906G>A p.V32302V splice site 0.00007654
43. 179422286 c.87707-4G>T splice site 0.00165843
44. 179442330 c.68823C>T p.Y22941Y splice site 0.00002636
45. 179476477 c.50551+8G>A splice site 0.00000831
46. 179480210 c.48462G>A p.T16154T splice site 0.00009962
47. 179544975 c.33418+6T>G splice site 0.00002486
48. 179596309 c.17184A>G p.E5728E splice site 0.00005235
49. 179512101 c.40141+7G>A splice site 0.00340177
50. 179528445 c.36449-8C>A splice site 0.00001705
51. 179531543 c.35875+8T>G splice site 0.00068108
52. 179393160 c.107224-6T>C splice site 0.00002542
53. 179407383 c.97192+6G>A splice site 0.00007553
54. 179407385 c.97192+4A>G splice site 0.00000838
55. 179407792 c.96904+4T>C splice site 0.00014178
56. 179410539 c.95416+8T>C splice site 0.00001676
57. 179414599 c.91853-3T>C splice site 0.00002679
58. 179421567 c.88306+8T>C splice site 0.00007557
59. 179421576 c.88305T>C p.Y29435Y splice site 0.00001672
60. 179442709 c.68527+6T>C splice site 0.00000836
61. 179444123 c.67637-3C>T splice site 0.00001781
62. 179444124 c.67637-4A>G splice site 0.00004456
63. 179446222 c.66769+4A>G splice site 0.00000924
64. 179448335 c.65574T>C p.N21858N splice site 0.00004427
65. 179448641 c.65276-8T>C splice site 0.00027171
66. 179449309 c.64973-4C>G splice site 0.00004158
67. 179458290 c.58732+5G>A splice site 0.00000874
68. 179459377 c.57848-4G>A splice site 0.00002627
69. 179460535 c.57546T>C p.D19182D splice site 0.00001810
70. 179462550 c.57263-4C>T splice site 0.00005837
71. 179463384 c.56963-3C>T splice site 0.00000835
72. 179467322 c.54812-5A>G splice site 0.00058041
73. 179469429 c.54381+6C>G splice site 0.00007798
74. 179472047 c.53288-6T>C splice site 0.00000832
75. 179473326 c.52405+7T>C splice site 0.00001110
76. 179475115 c.51138C>A p.G17046G splice site 0.00000834
77. 179480363 c.48460+5G>A splice site 0.00004145
78. 179481457 c.48159T>A p.I16053I splice site 0.00000832
79. 179483222 c.46967-4T>G splice site 0.00000834
80. 179483588 c.46697-8C>A splice site 0.00002591
81. 179486733 c.44916T>A p.V14972V splice site 0.00002395
82. 179494176 c.44282-6G>A splice site 0.00004989
83. 179500975 c.41330-7T>A splice site 0.00043245
84. 179506965 c.40557C>T p.S13519S splice site 0.00005761
85. 179516055 c.39548-8A>G splice site 0.00009157
86. 179516698 c.39296-4A>G splice site 0.00002989
87. 179528348 c.36532+6T>C splice site 0.00000843
88. 179530100 c.36043+4C>T splice site 0.00001740
89. 179532455 c.35546-7T>C splice site 0.00002672
90. 179539763 c.34612+3A>G splice site 0.00000968
91. 179543232 c.33827-8C>T splice site 0.00025761
92. 179544058 c.33742+8C>T splice site 0.00070832
93. 179545801 c.33340+5A>C splice site 0.00001727
94. 179549482 c.32555-6T>C splice site 0.00034276
95. 179556739 c.31762+4C>T splice site 0.00009218
96. 179566252 c.30598+3A>T splice site 0.00001664
97. 179566318 c.30539-4C>A splice site 0.00001657
98. 179568869 c.30223+5G>A splice site 0.00002503
99. 179584275 c.23938+6T>C splice site 0.00000875
100. 179585105 c.23377+7A>G splice site 0.00001706
101. 179587379 c.22240+7A>C splice site 0.00008525
102. 179587670 c.21962-6C>T splice site 0.00018876
103. 179590490 c.20554+5A>G splice site 0.00002676
104. 179592308 c.19993+4T>C splice site 0.00002707
105. 179592594 c.19715-4A>G splice site 0.00003737
106. 179603091 c.14093-4G>A splice site 0.00000897
107. 179617906 c.11256T>C p.A3752A splice site 0.00000938
108. 179621527 c.10679-3C>T splice site 0.00001725
109. 179623903 c.10115-4G>A splice site 0.00010761
110. 179644720 c.3729+7A>G splice site 0.00000826
111. 179649083 c.2494-5T>C splice site 0.00000839
112. 179650343 c.2493+4A>T splice site 0.00000825
113. 179650572 c.2370+3G>A splice site 0.00000824
114. 179659122 c.1398+4C>T splice site 0.00025535
115. 179665414 c.296-5C>T splice site 0.00003434
116. 179512102 c.40141+6C>T splice site 0.00006070
117. 179515471 c.39709+7G>A splice site 0.00001865
118. 179569697 c.29605-4T>C splice site 0.00000829
119. 179510639 c.40408+8delA splice site 0.00067770
120. 179596317 c.17183-7C>T splice site 0.00121112
121. 179463226 c.57111+7_57111+9delAAA splice site 0.00000841
122. 179481843 c.47875+4_47875+7delAATA splice site 0.00001829
123. 179542941 c.33911-6_33911-5insG splice site 0.00005001
124. 179558420 c.31514-4delT splice site 0.00009870
125. 179558743 c.31427-8_31427-7delCT splice site 0.00002280
126. 179584566 c.23660-7_23660-5delCTT splice site 0.00008082
127. 179590778 c.20276-5delT splice site 0.00001812
128. 179638103 c.7595-7delT splice site 0.00003333
129. 179659983 c.915-4dupT splice site 0.00003308
130. 179597847 c.16056T>C p.D5352D splice site 0.00014323
131. 179404786 c.98098+9T>A splice site 0.18308465
132. 179404792 c.98098+3G>A splice site 0.00011199
133. 179407788 c.96904+8C>T splice site 0.00021314
134. 179414290 c.92152+7T>G splice site 0.00003382
135. 179418946 c.88895-3T>A splice site 0.00000878
136. 179419171 c.88894+9T>C splice site 0.00002186
137. 179423058 c.87118+10A>G splice site 0.00000901
138. 179441248 c.69715+8T>C splice site 0.00013295
139. 179441640 c.69412+10G>C splice site 0.00052316
140. 179444277 c.67636+11A>G splice site 0.00001660
141. 179445040 c.67057+9A>G splice site 0.00009154
142. 179448324 c.65575+10T>C splice site 0.00035721
143. 179456630 c.59927-11T>A splice site 0.00005002
144. 179458211 c.58733-9T>C splice site 0.00000846
145. 179462552 c.57263-6T>C splice site 0.00000834
146. 179466519 c.55303-5T>C splice site 0.00000848
147. 179470033 c.53882-11T>G splice site 0.00001108
148. 179470450 c.53582-10C>T splice site 0.00000948
149. 179471741 c.53581+7G>C splice site 0.00000832
150. 179474722 c.51437-9G>A splice site 0.00002507
151. 179477802 c.49649-3C>T splice site 0.00002502
152. 179478675 c.49346-11C>T splice site 0.00000835
153. 179481965 c.47761-4G>A splice site 0.00006400
154. 179486478 c.45083-10A>G splice site 0.00757325
155. 179487501 c.44816-7C>T splice site 0.00003471
156. 179489991 c.44548+9A>G splice site 0.00014929
157. 179495679 c.44015-9C>G splice site 0.00000833
158. 179500163 c.41884+4T>C splice site 0.00001102
159. 179504772 c.40786+3G>A splice site 0.00001658
160. 179505366 c.40634-9A>G splice site 0.00024150
161. 179505367 c.40634-10T>A splice site 0.00010826
162. 179510640 c.40408+7_40408+10dupAATG splice site 0.00194920
163. 179513966 c.40057+9C>T splice site 0.00006524
164. 179513971 c.40057+4C>T splice site 0.00045752
165. 179514067 c.39974-9T>C splice site 0.00012355
166. 179515475 c.39709+3A>G splice site 0.00003553
167. 179517175 c.39127+10A>C splice site 0.00084258
168. 179517277 c.39044-9T>A splice site 0.00032587
169. 179518925 c.38380+10C>T splice site 0.00019560
170. 179519027 c.38297-9T>A splice site 0.00023338
171. 179529273 c.36203-9T>C splice site 0.03397272
172. 179530099 c.36043+5G>A splice site 0.00000870
173. 179535906 c.35228-9T>A splice site 0.00011316
174. 179542942 c.33911-7T>C splice site 0.00000834
175. 179544055 c.33742+11A>G splice site 0.00192564
176. 179544790 c.33419-8C>T splice site 0.00000835
177. 179545796 c.33340+10T>C splice site 0.00243478
178. 179548028 c.32807-10T>A splice site 0.00082318
179. 179548819 c.32723-10C>G splice site 0.00000835
180. 179549048 c.32722+9G>A splice site 0.00858485
181. 179549487 c.32555-11T>A splice site 0.00001679
182. 179552960 c.32198-9C>A splice site 0.00001658
183. 179553510 c.32096-5T>G splice site 0.00000847
184. 179554007 c.32011+10C>G splice site 0.00138015
185. 179567170 c.30433+11T>G splice site 0.00058036
186. 179572551 c.28754-11T>C splice site 0.00006054
187. 179575351 c.28462+11T>C splice site 0.00023990
188. 179577419 c.27328+5G>A splice site 0.00045878
189. 179579309 c.26201-9T>C splice site 0.00000962
190. 179580210 c.25921+10C>T splice site 0.07605923
191. 179595528 c.17741-9A>G splice site 0.00288901
192. 179596319 c.17183-9T>C splice site 0.00141412
193. 179597157 c.16621+10G>A splice site 0.00016515
194. 179597857 c.16055-9A>C splice site 0.00041440
195. 179598249 c.15776-5T>G splice site 0.00000838
196. 179599719 c.14936-4G>T splice site 0.00005209
197. 179600228 c.14935+10G>A splice site 0.00004025
198. 179600229 c.14935+9C>T splice site 0.00005243
199. 179602805 c.14371+4A>G splice site 0.00000852
200. 179620941 c.11254+8G>T splice site 0.00000880
201. 0 c.26762-14_26762-10dupTTTGT splice site 0.14286640
202. 179392038 c.107681-4A>C splice site 0.00001771
203. 179392038 c.107681-4A>G splice site 0.00000885
204. 179392041 c.107681-7C>T splice site 0.00001778
205. 179392165 c.107680+8A>G splice site 0.00000846
206. 179392478 c.107378-3C>T splice site 0.00000924
207. 179392996 c.107377+5G>T splice site 0.00000831
208. 179392996 c.107377+5G>A splice site 0.00000831
209. 179392997 c.107377+4A>G splice site 0.00000831
210. 179393002 c.107376T>C splice site 0.00000830
211. 179394681 c.106531+6T>G splice site 0.00000829
212. 179394681 c.106531+6T>C splice site 0.00002488
213. 179394841 c.106377C>T splice site 0.00000835
214. 179401306 c.100172-4A>C splice site 0.00000957
215. 179401309 c.100172-7T>G splice site 0.00000960
216. 179401310 c.100172-8T>C splice site 0.00000960
217. 179401659 c.100171+6_100171+7delTA splice site 0.00001086
218. 179401662 c.100171+3G>A splice site 0.00003114
219. 179402643 c.99291T>C splice site 0.00001239
220. 179402650 c.99290-6G>A splice site 0.00008396
221. 179402650 c.99290-6G>T splice site 0.00001399
222. 179403259 c.99289+8G>A splice site 0.00001806
223. 179403977 c.98685T>C splice site 0.00000837
224. 179403982 c.98684-4A>G splice site 0.00000838
225. 179404102 c.98683+7G>T splice site 0.00000841
226. 179404102 c.98683+7_98683+8insAAGT splice site 0.00000841
227. 179404698 c.98099-5dupT splice site 0.00000832
228. 179404788 c.98098+7C>A splice site 0.00001723
229. 179406315 c.97493-4G>T splice site 0.00005064
230. 179406988 c.97492+3_97492+6dupAAGT splice site 0.00001277
231. 179407293 c.97193-3T>C splice site 0.00003426
232. 179408555 c.96310+6C>A splice site 0.00000841
233. 179408555 c.96310+6C>G splice site 0.00000841
234. 179408557 c.96310+4A>T splice site 0.00006711
235. 179408920 c.96028+8T>C splice site 0.00000835
236. 179410424 c.95417-4A>T splice site 0.00001674
237. 179410847 c.95120-4T>C splice site 0.00000872
238. 179410931 c.95119+8T>C splice site 0.00000875
239. 179411232 c.94829-3C>T splice site 0.00000864
240. 179411328 c.94827C>T splice site 0.00000868
241. 179411631 c.94524T>C splice site 0.00001785
242. 179411638 c.94523-6T>C splice site 0.00000897
243. 179411725 c.94522+5G>A splice site 0.00001725
244. 179412040 c.94220-8A>G splice site 0.00000861
245. 179414595 c.91854T>C splice site 0.00000891
246. 179414709 c.91852+4C>A splice site 0.00001764
247. 179415003 c.91565-3T>C splice site 0.00000858
248. 179415686 c.91564+8T>G splice site 0.00000948
249. 179415689 c.91564+5G>A splice site 0.00000931
250. 179415995 c.91271-8T>A splice site 0.00000834
251. 179418126 c.89504-3C>T splice site 0.00000877
252. 179418222 c.89503+7A>G splice site 0.00001742
253. 179418222 c.89503+7A>T splice site 0.00004355
254. 179418226 c.89503+3A>G splice site 0.00001736
255. 179419173 c.88894+7C>G splice site 0.00001073
256. 179419486 c.88595-7C>T splice site 0.00000828
257. 179419487 c.88595-8A>G splice site 0.00000828
258. 179421972 c.88009+8T>C splice site 0.00002498
259. 179421976 c.88009+4C>T splice site 0.00000832
260. 179422288 c.87707-6T>C splice site 0.00000829
261. 179422369 c.87706+6T>C splice site 0.00000828
262. 179423069 c.87117A>C splice site 0.00000889
263. 179424030 c.86821+8T>C splice site 0.00001797
264. 179441249 c.69715+7A>G splice site 0.00000831
265. 179441642 c.69412+8G>A splice site 0.00000830
266. 179441646 c.69412+4T>G splice site 0.00000830
267. 179442244 c.68825-7T>A splice site 0.00001807
268. 179442322 c.68824+7C>T splice site 0.00000891
269. 179442634 c.68528-9_68528-8delAT splice site 0.00001752
270. 179442633 c.68528-8T>C splice site 0.00002625
271. 179442918 c.68330-6T>C splice site 0.00000834
272. 179443331 c.68329+7T>C splice site 0.00001220
273. 179443336 c.68329+2_68329+3insTT splice site 0.00016461
274. 179443447 c.68225-5T>C splice site 0.00002560
275. 179443448 c.68225-6T>C splice site 0.00000853
276. 179443450 c.68225-8T>C splice site 0.00001704
277. 179443450 c.68225-8T>G splice site 0.00000852
278. 179444126 c.67637-6T>C splice site 0.00003568
279. 179444282 c.67636+6G>T splice site 0.00000830
280. 179444282 c.67636+6G>A splice site 0.00000830
281. 179444663 c.67348+3A>G splice site 0.00001663
282. 179445043 c.67057+6T>C splice site 0.00007485
283. 179445341 c.66770-5A>G splice site 0.00000972
284. 179447016 c.66160+7A>C splice site 0.00000851
285. 179447024 c.66159T>C splice site 0.00002547
286. 179447960 c.65576-6T>G splice site 0.00000924
287. 179449308 c.64973-3C>G splice site 0.00000832
288. 179449392 c.64972+4T>C splice site 0.00000829
289. 179449698 c.64673-3T>C splice site 0.00000838
290. 179451232 c.64396T>C splice site 0.00000833
291. 179452149 c.63794-5T>C splice site 0.00002038
292. 179452239 c.63793+4G>C splice site 0.00000925
293. 179452531 c.63509-4G>C splice site 0.00000893
294. 179452532 c.63509-5T>A splice site 0.00001794
295. 179457099 c.59626+7delA splice site 0.00005832
296. 179457099 c.59626+7A>T splice site 0.00000833
297. 179457813 c.59036-3T>C splice site 0.00000833
298. 179458289 c.58732+6C>T splice site 0.00005247
299. 179458601 c.58433-7delT splice site 0.00410460
300. 179458601 c.58433-7dupT splice site 0.00558596
301. 179458601 c.58433-7T>C splice site 0.00001082
302. 179459068 c.58150+3_58150+6dupATGT splice site 0.00000853
303. 179459072 c.58149G>T splice site 0.00000854
304. 179459376 c.57848-3C>T splice site 0.00000875
305. 179459378 c.57848-5C>T splice site 0.00002630
306. 179462257 c.57544+8_57544+9insA splice site 0.00002482
307. 179462257 c.57544+8C>A splice site 0.00001241
308. 179462552 c.57263-6T>G splice site 0.00000834
309. 179463223 c.57111+10C>T splice site 0.00000841
310. 179464273 c.56347+8C>T splice site 0.00001805
311. 179464276 c.56347+5A>G splice site 0.00000902
312. 179464282 c.56346G>C splice site 0.00000899
313. 179466380 c.55432+5G>C splice site 0.00000859
314. 179466644 c.55270-3T>C splice site 0.00000836
315. 179466649 c.55270-8T>C splice site 0.00000835
316. 179468595 c.54811+8T>C splice site 0.00008850
317. 179469030 c.54384C>T splice site 0.00000956
318. 179469428 c.54381+7T>C splice site 0.00000868
319. 179470136 c.53881+5G>A splice site 0.00014649
320. 179470444 c.53582-4A>G splice site 0.00001853
321. 179472505 c.53002+7A>G splice site 0.00000834
322. 179472816 c.52706-8C>A splice site 0.00000938
323. 179472899 c.52705+6T>C splice site 0.00001997
324. 179473639 c.52103-4T>C splice site 0.00000836
325. 179474301 c.51740-4A>G splice site 0.00000870
326. 179474301 c.51740-4A>T splice site 0.00000870
327. 179474809 c.51436+8T>G splice site 0.00000836
328. 179474813 c.51436+4A>C splice site 0.00000835
329. 179475119 c.51137-3delT splice site 0.00000835
330. 179475123 c.51137-7G>T splice site 0.00000836
331. 179476001 c.50858-3C>T splice site 0.00008424
332. 179476092 c.50857+7G>A splice site 0.00000837
333. 179476777 c.50354+7T>C splice site 0.00000951
334. 179476896 c.50249-7T>A splice site 0.00000912
335. 179477883 c.49648+5T>C splice site 0.00000851
336. 179478010 c.49533-7A>G splice site 0.00001043
337. 179478480 c.49530C>T splice site 0.00000835
338. 179478663 c.49347T>C splice site 0.00000836
339. 179478772 c.49345+7T>C splice site 0.00000839
340. 179479078 c.49049-3C>T splice site 0.00000837
341. 179479189 c.49048+4A>T splice site 0.00000844
342. 179479570 c.48760+4T>A splice site 0.00002428
343. 179480215 c.48461-4G>A splice site 0.00002491
344. 179480513 c.48315T>G splice site 0.00000855
345. 179480513 c.48315T>A splice site 0.00001710
346. 179481201 c.48312+5G>A splice site 0.00000837
347. 179481361 c.48161-4delT splice site 0.00003345
348. 179481361 c.48161-4dupT splice site 0.00001673
349. 179481745 c.47876-5T>C splice site 0.00001662
350. 179481844 c.47875+3_47875+4insAATA splice site 0.00000915
351. 179481841 c.47875+6T>A splice site 0.00000927
352. 179481848 c.47874T>C splice site 0.00001944
353. 179482046 c.47760+6T>C splice site 0.00007052
354. 179482811 c.47270-3C>T splice site 0.00001677
355. 179482909 c.47269+7A>G splice site 0.00000831
356. 179482917 c.47268T>C splice site 0.00002492
357. 179483304 c.46966+7C>G splice site 0.00000830
358. 179483305 c.46966+6C>G splice site 0.00000830
359. 179484617 c.46430-3C>G splice site 0.00000844
360. 179484621 c.46430-7T>A splice site 0.00001691
361. 179484622 c.46430-8C>T splice site 0.00001692
362. 179484712 c.46429+3A>G splice site 0.00000842
363. 179484938 c.46304+6C>T splice site 0.00000907
364. 179485728 c.45617-8G>C splice site 0.00000836
365. 179485830 c.45615T>A splice site 0.00000836
366. 179486472 c.45083-4G>A splice site 0.00000871
367. 179486472 c.45083-4G>C splice site 0.00000871
368. 179486560 c.45082+7G>A splice site 0.00001678
369. 179486563 c.45082+4A>T splice site 0.00000839
370. 179487498 c.44816-4A>G splice site 0.00006813
371. 179489185 c.44815+7A>G splice site 0.00000832
372. 179489187 c.44815+5G>A splice site 0.00000832
373. 179489463 c.44549-5T>C splice site 0.00000844
374. 179490130 c.44425-7delC splice site 0.00000838
375. 179494168 c.44284C>A splice site 0.00001663
376. 179494177 c.44282-7C>T splice site 0.00019126
377. 179494178 c.44282-8T>A splice site 0.00000832
378. 179494966 c.44281+2dupT splice site 0.00000831
379. 179495092 c.44157T>C splice site 0.00000923
380. 179495102 c.44155-8delT splice site 0.00000990
381. 179495102 c.44155-8T>C splice site 0.00001015
382. 179495678 c.44015-8T>C splice site 0.00001666
383. 179495758 c.44014+3A>G splice site 0.00000832
384. 179496034 c.43748-7delC splice site 0.00002283
385. 179496034 c.43748-7C>T splice site 0.00013725
386. 179496867 c.43747+7G>A splice site 0.00002003
387. 179497143 c.43481-3T>C splice site 0.00001130
388. 179497150 c.43481-10_43481-9insT splice site 0.00046075
389. 179497148 c.43481-8C>G splice site 0.00001213
390. 179497149 c.43481-9delT splice site 0.00002425
391. 179497246 c.43480+7A>G splice site 0.00000835
392. 179497526 c.43214-7C>G splice site 0.00001660
393. 179497642 c.43213+3A>G splice site 0.00000830
394. 179497779 c.43087-8C>G splice site 0.00000837
395. 179498061 c.42947-8C>A splice site 0.00000830
396. 179498137 c.42946+3G>T splice site 0.00000831
397. 179498137 c.42946+3G>A splice site 0.00000831
398. 179498411 c.42683-8T>C splice site 0.00000854
399. 179498537 c.42682+7G>A splice site 0.00000829
400. 179498818 c.42416-8C>T splice site 0.00000842
401. 179499086 c.42415+7G>A splice site 0.00005148
402. 179499087 c.42415+6C>T splice site 0.00000857
403. 179499447 c.42151+3A>G splice site 0.00000829
404. 179499581 c.42025-5T>C splice site 0.00000843
405. 179500448 c.41609-6A>G splice site 0.00003298
406. 179500974 c.41330-6C>T splice site 0.00002066
407. 179501525 c.40929T>C splice site 0.00002706
408. 179502149 c.40877-3_40877-2insAT splice site 0.00002064
409. 179502149 c.40877-3C>A splice site 0.00002064
410. 179504518 c.40787-3C>T splice site 0.00001792
411. 179505263 c.40723+5A>C splice site 0.00000834
412. 179506957 c.40558+7T>C splice site 0.00003167
413. 179509347 c.40409-4A>C splice site 0.00004182
414. 179510639 c.40408+8dupA splice site 0.00002824
415. 179510765 c.40298-8C>A splice site 0.00002154
416. 179513970 c.40057+5C>T splice site 0.00006529
417. 179513971 c.40057+4C>G splice site 0.00006536
418. 179514620 c.39819G>T splice site 0.00010792
419. 179514625 c.39818-4C>T splice site 0.00000831
420. 179515479 c.39708A>G splice site 0.00001728
421. 179515569 c.39626-8C>A splice site 0.00001858
422. 179515964 c.39625+6T>C splice site 0.00000833
423. 179516046 c.39549G>C splice site 0.00000832
424. 179516054 c.39548-7T>C splice site 0.00000833
425. 179516175 c.39547+5A>G splice site 0.00000841
426. 179516176 c.39547+4T>C splice site 0.00000841
427. 179516387 c.39463+6C>T splice site 0.00000841
428. 179516483 c.39380-7T>G splice site 0.00000866
429. 179516605 c.39379+6T>C splice site 0.00001112
430. 179516816 c.39295+7dupA splice site 0.00000831
431. 179516912 c.39212-6T>C splice site 0.00000829
432. 179516983 c.39211+8C>T splice site 0.00011597
433. 179517081 c.39128-7T>C splice site 0.00002488
434. 179517273 c.39044-5T>C splice site 0.00000836
435. 179517462 c.38961A>G splice site 0.00000852
436. 179517467 c.38960-4T>C splice site 0.00000852
437. 179517471 c.38960-8C>G splice site 0.00000852
438. 179517567 c.38959+8T>G splice site 0.00000857
439. 179517571 c.38959+4T>C splice site 0.00000857
440. 179517657 c.38877G>T splice site 0.00000855
441. 179517761 c.38875+7G>A splice site 0.00000844
442. 179517765 c.38875+3A>G splice site 0.00001688
443. 179517959 c.38791+6T>C splice site 0.00007636
444. 179517960 c.38791+5T>G splice site 0.00000848
445. 179518056 c.38708-8C>A splice site 0.00000856
446. 179528349 c.36532+5T>C splice site 0.00000843
447. 179528355 c.36531A>G splice site 0.00000845
448. 179528541 c.36448+5T>G splice site 0.00000861
449. 179528636 c.36365-7T>C splice site 0.00001724
450. 179528833 c.36281-8C>A splice site 0.00000884
451. 179529272 c.36203-8C>T splice site 0.00000871
452. 179529378 c.36202+3A>G splice site 0.00001752
453. 179529463 c.36120G>T splice site 0.00000883
454. 179529575 c.36118+4C>T splice site 0.00000979
455. 179530098 c.36043+6T>C splice site 0.00002609
456. 179531635 c.35798-7T>G splice site 0.00004961
457. 179531959 c.35797+4T>C splice site 0.00002704
458. 179532170 c.35712A>G splice site 0.00001369
459. 179532258 c.35630-6T>C splice site 0.00000959
460. 179532362 c.35629+3A>G splice site 0.00000887
461. 179535813 c.35308+4T>A splice site 0.00000928
462. 179535905 c.35228-8C>A splice site 0.00003078
463. 179537355 c.34855+7C>T splice site 0.00000908
464. 179537434 c.34787-4A>C splice site 0.00006062
465. 179538352 c.34786+8A>G splice site 0.00005057
466. 179539033 c.34708+8C>A splice site 0.00106697
467. 179539033 c.34708+8C>T splice site 0.00005472
468. 179539135 c.34614G>A splice site 0.00003640
469. 179539141 c.34613-5T>C splice site 0.00004471
470. 179539760 c.34612+6T>C splice site 0.00000992
471. 179539845 c.34538-5T>A splice site 0.00000857
472. 179539846 c.34538-6C>T splice site 0.00000857
473. 179540642 c.34453+6delG splice site 0.00002821
474. 179540644 c.34453+4T>A splice site 0.00001383
475. 179540727 c.34379-5T>C splice site 0.00003416
476. 179542342 c.34291+6G>A splice site 0.00001899
477. 179542649 c.33995-5T>G splice site 0.00000850
478. 179542649 c.33995-5T>C splice site 0.00002551
479. 179542943 c.33911-8C>A splice site 0.00006677
480. 179543467 c.33826+7G>A splice site 0.00000833
481. 179543469 c.33826+5A>C splice site 0.00001665
482. 179543469 c.33826+5A>G splice site 0.00001665
483. 179543470 c.33826+4C>T splice site 0.00000832
484. 179544142 c.33666G>T splice site 0.00001667
485. 179544616 c.33580+5A>C splice site 0.00001663
486. 179544787 c.33419-5T>A splice site 0.00000835
487. 179544790 c.33419-8C>A splice site 0.00000835
488. 179544973 c.33418+8A>G splice site 0.00001657
489. 179544977 c.33418+4C>A splice site 0.00002486
490. 179544977 c.33418+4C>G splice site 0.00000829
491. 179545897 c.33249G>T splice site 0.00007245
492. 179545902 c.33248-4A>G splice site 0.00000925
493. 179545906 c.33248-8C>G splice site 0.00000932
494. 179546182 c.33173-5T>C splice site 0.00001872
495. 179546185 c.33173-8T>C splice site 0.00000947
496. 179546384 c.33172+4G>A splice site 0.00007477
497. 179547633 c.32888-3C>A splice site 0.00001300
498. 179547637 c.32888-7G>A splice site 0.00001378
499. 179548721 c.32806+5A>G splice site 0.00010939
500. 179548727 c.32805A>G splice site 0.00000838
501. 179548814 c.32723-5T>C splice site 0.00000833
502. 179549049 c.32722+8C>T splice site 0.00005222
503. 179549148 c.32639-8C>A splice site 0.00004401
504. 179549484 c.32555-8C>A splice site 0.00000837
505. 179549628 c.32554+5_32554+6delAT splice site 0.00016837
506. 179549722 c.32471-6C>T splice site 0.00003602
507. 179550246 c.32391A>G splice site 0.00001038
508. 179552832 c.32311+6C>A splice site 0.00000832
509. 179552950 c.32199A>G splice site 0.00000829
510. 179552959 c.32198-8T>A splice site 0.00000829
511. 179553396 c.32197+8delA splice site 0.00000830
512. 179553401 c.32197+3A>G splice site 0.00000829
513. 179553504 c.32097T>C splice site 0.00000841
514. 179554018 c.32010A>G splice site 0.00000835
515. 179554107 c.31928-7C>T splice site 0.00000847
516. 179554535 c.31846+5A>G splice site 0.00000830
517. 179554631 c.31763-8A>C splice site 0.00000828
518. 179556738 c.31762+5_31762+7delGCC splice site 0.00014268
519. 179558328 c.31594+8T>C splice site 0.00001230
520. 179558332 c.31594+4T>C splice site 0.00002317
521. 179558644 c.31513+5A>G splice site 0.00000912
522. 179558742 c.31427-7T>C splice site 0.00001145
523. 179559553 c.31348+3A>T splice site 0.00004069
524. 179560067 c.31270+8delA splice site 0.00000830
525. 179565840 c.30682+7T>C splice site 0.00001656
526. 179566247 c.30598+8C>T splice site 0.00000833
527. 179566249 c.30598+6A>G splice site 0.00000833
528. 179566322 c.30539-8C>T splice site 0.00000829
529. 179566798 c.30512-5delT splice site 0.00001042
530. 179566889 c.30511+6G>T splice site 0.00000828
531. 179566892 c.30511+3G>A splice site 0.00009940
532. 179567174 c.30433+7delT splice site 0.00000829
533. 179567397 c.30224-7T>G splice site 0.00011211
534. 179567398 c.30224-8T>A splice site 0.00001730
535. 179568869 c.30223+5G>C splice site 0.00000834
536. 179569699 c.29605-6_29605-4delTCT splice site 0.00000829
537. 179570090 c.29421-6A>G splice site 0.00003386
538. 179571583 c.29134+6T>C splice site 0.00000966
539. 179572543 c.28754-3C>T splice site 0.00001718
540. 179574586 c.28463-3T>C splice site 0.00000847
541. 179574587 c.28463-4A>G splice site 0.00000848
542. 179575356 c.28462+6G>A splice site 0.00000851
543. 179575356 c.28462+6G>T splice site 0.00000851
544. 179575655 c.28175-6T>C splice site 0.00007641
545. 179575657 c.28175-8A>G splice site 0.00000850
546. 179576665 c.27886+6T>G splice site 0.00000904
547. 179576668 c.27886+3G>A splice site 0.00011727
548. 179576672 c.27885A>G splice site 0.00000897
549. 179577708 c.27050-6G>A splice site 0.00005190
550. 179578620 c.26761+4G>A splice site 0.00001714
551. 179578906 c.26483-4C>T splice site 0.00003351
552. 179579020 c.26481C>T splice site 0.00002508
553. 179579305 c.26201-5A>T splice site 0.00010384
554. 179579307 c.26201-7dupT splice site 0.00001921
555. 179579708 c.26200+5G>A splice site 0.00000890
556. 179580213 c.25921+7G>A splice site 0.00001709
557. 179580215 c.25921+5G>C splice site 0.00000850
558. 179581818 c.25639+4C>T splice site 0.00000879
559. 179582242 c.25351+8A>T splice site 0.00000899
560. 179582243 c.25351+7A>G splice site 0.00002694
561. 179582536 c.25065G>A splice site 0.00004273
562. 179582541 c.25064-4A>G splice site 0.00001720
563. 179582542 c.25064-5T>C splice site 0.00000860
564. 179582663 c.25063+7G>A splice site 0.00000837
565. 179582951 c.24785-3T>C splice site 0.00000858
566. 179583330 c.24506-3T>C splice site 0.00000840
567. 179583335 c.24506-8C>G splice site 0.00009250
568. 179584182 c.23939-4A>T splice site 0.00008500
569. 179584182 c.23939-4A>G splice site 0.00002550
570. 179584566 c.23660-7C>T splice site 0.00022633
571. 179584566 c.23660-7C>G splice site 0.00000905
572. 179585389 c.23100A>T splice site 0.00001813
573. 179585395 c.23099-5G>T splice site 0.00000968
574. 179585398 c.23099-8dupT splice site 0.00001960
575. 179585928 c.22818A>G splice site 0.00001169
576. 179585937 c.22817-8T>G splice site 0.00001270
577. 179586868 c.22529-7C>A splice site 0.00000897
578. 179587278 c.22241-5T>C splice site 0.00002529
579. 179587280 c.22241-7C>G splice site 0.00000843
580. 179587381 c.22240+5T>C splice site 0.00004258
581. 179587383 c.22240+3G>A splice site 0.00006809
582. 179588429 c.21404-6A>G splice site 0.00001931
583. 179588429 c.21404-6A>C splice site 0.00000965
584. 179588431 c.21404-8C>G splice site 0.00004843
585. 179588577 c.21403+6T>C splice site 0.00000880
586. 179589271 c.20837-6T>C splice site 0.00003720
587. 179590487 c.20554+8T>C splice site 0.00000893
588. 179591811 c.20275+6C>T splice site 0.00002697
589. 179591811 c.20275+6C>G splice site 0.00001798
590. 179592306 c.19993+6C>A splice site 0.00000904
591. 179592838 c.19713A>G splice site 0.00001145
592. 179593220 c.19426+7A>G splice site 0.00001786
593. 179593221 c.19426+6T>C splice site 0.00000892
594. 179593510 c.19148-5_19148-3delTAC splice site 0.00000860
595. 179593612 c.19147+6T>C splice site 0.00000883
596. 179593614 c.19147+4T>C splice site 0.00003529
597. 179593895 c.18870A>G splice site 0.00001852
598. 179594386 c.18589+5G>A splice site 0.00003319
599. 179594680 c.18308-8A>G splice site 0.00000968
600. 179595525 c.17741-6G>A splice site 0.00002633
601. 179596028 c.17461+4G>T splice site 0.00000830
602. 179596697 c.16905G>A splice site 0.00000859
603. 179596702 c.16904-4G>A splice site 0.00000862
604. 179596703 c.16904-5T>C splice site 0.00001723
605. 179596705 c.16904-7A>G splice site 0.00000863
606. 179596706 c.16904-8T>A splice site 0.00000863
607. 179597846 c.16057C>A splice site 0.00001790
608. 179598249 c.15776-5T>C splice site 0.00000838
609. 179598252 c.15776-8C>T splice site 0.00000839
610. 179599048 c.15496+7G>T splice site 0.00000896
611. 179599426 c.15217+8T>C splice site 0.00000873
612. 179599720 c.14936-5T>C splice site 0.00002668
613. 179599721 c.14936-6A>G splice site 0.00002728
614. 179600806 c.14372-5T>C splice site 0.00002775
615. 179602801 c.14371+8C>T splice site 0.00000858
616. 179603863 c.14092+5G>A splice site 0.00005178
617. 179620943 c.11254+6T>C splice site 0.00010537
618. 179620950 c.11253T>C splice site 0.00001737
619. 179621529 c.10679-5T>C splice site 0.00000862
620. 179622651 c.10304-8C>G splice site 0.00002753
621. 179623904 c.10115-5C>T splice site 0.00002483
622. 179629541 c.9704-3T>C splice site 0.00000842
623. 179629543 c.9704-5C>A splice site 0.00000843
624. 179629544 c.9704-6T>C splice site 0.00000843
625. 179631104 c.9703+4T>C splice site 0.00004124
626. 179631105 c.9703+3A>G splice site 0.00002474
627. 179632478 c.9471+8C>T splice site 0.00001659
628. 179632481 c.9471+5T>G splice site 0.00000829
629. 179632655 c.9306-4A>G splice site 0.00001650
630. 179632658 c.9306-7T>C splice site 0.00000825
631. 179632659 c.9306-8A>T splice site 0.00000825
632. 179632737 c.9305+4A>C splice site 0.00000824
633. 179632886 c.9164-4C>A splice site 0.00000844
634. 179633395 c.9163+5G>C splice site 0.00002479
635. 179633397 c.9163+3A>G splice site 0.00000826
636. 179633664 c.8903-4G>A splice site 0.00000833
637. 179634783 c.8641+4_8641+7delAGTA splice site 0.00000825
638. 179635051 c.8381-4T>C splice site 0.00000825
639. 179635055 c.8381-8C>T splice site 0.00000825
640. 179636197 c.7857T>G splice site 0.00000825
641. 179636197 c.7857T>C splice site 0.00000825
642. 179636205 c.7856-7T>C splice site 0.00000825
643. 179637830 c.7855+6T>C splice site 0.00000832
644. 179638103 c.7595-7T>C splice site 0.00000833
645. 179638186 c.7594+3A>G splice site 0.00000826
646. 179638455 c.7331-3C>T splice site 0.00000832
647. 179638561 c.7330+4A>G splice site 0.00000835
648. 179638932 c.7057+2dupT splice site 0.00001649
649. 179640076 c.6508+7T>G splice site 0.00000825
650. 179641872 c.4814+4A>G splice site 0.00000825
651. 179641873 c.4814+3A>G splice site 0.00000825
652. 179642049 c.4646-5T>G splice site 0.00000836
653. 179642051 c.4646-7C>A splice site 0.00003348
654. 179643948 c.3963+8A>G splice site 0.00000830
655. 179644196 c.3730-7T>C splice site 0.00001250
656. 179644935 c.3524-3T>C splice site 0.00000835
657. 179645998 c.3381-8A>G splice site 0.00000842
658. 179647154 c.3165C>T splice site 0.00000828
659. 179647263 c.3164+3A>G splice site 0.00000839
660. 179647334 c.3101-5T>A splice site 0.00000857
661. 179647799 c.2842-8C>T splice site 0.00000835
662. 179648447 c.2841G>A splice site 0.00001653
663. 179648516 c.2776-4C>A splice site 0.00000833
664. 179648793 c.2775+4G>A splice site 0.00060176
665. 179649084 c.2494-6A>C splice site 0.00000839
666. 179649085 c.2494-7C>A splice site 0.00001680
667. 179650467 c.2373C>A splice site 0.00000824
668. 179650472 c.2371-3C>T splice site 0.00000824
669. 179650475 c.2371-6A>G splice site 0.00000824
670. 179650568 c.2370+7C>G splice site 0.00000824
671. 179650871 c.2077-3C>A splice site 0.00000874
672. 179654080 c.2076+7A>G splice site 0.00000826
673. 179654231 c.1939-7T>C splice site 0.00000832
674. 179654846 c.1801-4delT splice site 0.00000842
675. 179654847 c.1801-5A>C splice site 0.00000843
676. 179654849 c.1801-7T>C splice site 0.00000847
677. 179655432 c.1800+3G>A splice site 0.00000824
678. 179656791 c.1662+8T>C splice site 0.00000867
679. 179658125 c.1536+6A>G splice site 0.00000826
680. 179658271 c.1399-3C>T splice site 0.00000825
681. 179659121 c.1398+5G>A splice site 0.00014826
682. 179659122 c.1398+4C>A splice site 0.00001647
683. 179659643 c.1245+6G>A splice site 0.00001674
684. 179659646 c.1245+3A>G splice site 0.00001672
685. 179659979 c.915G>A splice site 0.00001653
686. 179664206 c.914+8T>C splice site 0.00002474
687. 179664461 c.670-3C>T splice site 0.00000824
688. 179664544 c.669+8T>C splice site 0.00000826
689. 179664546 c.669+6T>C splice site 0.00000826
690. 179664552 c.669G>A splice site 0.00001652
691. 179665118 c.583+4C>T splice site 0.00001650
692. 179665413 c.296-4G>A splice site 0.00000858
693. 179669272 c.91+7T>C splice site 0.00003443

* 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.