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. 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. 179481843 c.47875+4_47875+7delAATA splice site 0.00001829
261. 179481839 c.47875+8G>T 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
267. 179464273 c.56347+8C>T splice site 0.00001805
268. 179591811 c.20275+6C>G splice site 0.00001798
269. 179424030 c.86821+8T>C splice site 0.00001797
270. 179452532 c.63509-5T>A splice site 0.00001794
271. 179504518 c.40787-3C>T splice site 0.00001792
272. 179597846 c.16057C>A splice site 0.00001790
273. 179593220 c.19426+7A>G splice site 0.00001786
274. 179411631 c.94524T>C splice site 0.00001785
275. 179582251 c.25350A>G p.S8450S splice site 0.00001782
276. 179444123 c.67637-3C>T splice site 0.00001781
277. 179392041 c.107681-7C>T splice site 0.00001778
278. 179392038 c.107681-4A>C splice site 0.00001771
279. 179414709 c.91852+4C>A splice site 0.00001764
280. 179529378 c.36202+3A>G splice site 0.00001752
281. 179442634 c.68528-9_68528-8delAT splice site 0.00001752
282. 179418222 c.89503+7A>G splice site 0.00001742
283. 179530100 c.36043+4C>T splice site 0.00001740
284. 179620950 c.11253T>C splice site 0.00001737
285. 179418226 c.89503+3A>G splice site 0.00001736
286. 179567398 c.30224-8T>A splice site 0.00001730
287. 179515479 c.39708A>G splice site 0.00001728
288. 179545801 c.33340+5A>C splice site 0.00001727
289. 179621527 c.10679-3C>T splice site 0.00001725
290. 179411725 c.94522+5G>A splice site 0.00001725
291. 179528636 c.36365-7T>C splice site 0.00001724
292. 179404788 c.98098+7C>A splice site 0.00001723
293. 179596703 c.16904-5T>C splice site 0.00001723
294. 179582541 c.25064-4A>G splice site 0.00001720
295. 179572543 c.28754-3C>T splice site 0.00001718
296. 179578620 c.26761+4G>A splice site 0.00001714
297. 179480513 c.48315T>A splice site 0.00001710
298. 179580213 c.25921+7G>A splice site 0.00001709
299. 179585105 c.23377+7A>G splice site 0.00001706
300. 179528445 c.36449-8C>A splice site 0.00001705
301. 179443450 c.68225-8T>C splice site 0.00001704
302. 179484622 c.46430-8C>T splice site 0.00001692
303. 179484621 c.46430-7T>A splice site 0.00001691
304. 179517765 c.38875+3A>G splice site 0.00001688
305. 179649085 c.2494-7C>A splice site 0.00001680
306. 179549487 c.32555-11T>A splice site 0.00001679
307. 179486560 c.45082+7G>A splice site 0.00001678
308. 179482811 c.47270-3C>T splice site 0.00001677
309. 179410539 c.95416+8T>C splice site 0.00001676
310. 179659643 c.1245+6G>A splice site 0.00001674
311. 179410424 c.95417-4A>T splice site 0.00001674
312. 179481361 c.48161-4dupT splice site 0.00001673
313. 179659646 c.1245+3A>G splice site 0.00001672
314. 179421576 c.88305T>C p.Y29435Y splice site 0.00001672
315. 179544142 c.33666G>T splice site 0.00001667
316. 179495678 c.44015-8T>C splice site 0.00001666
317. 179543469 c.33826+5A>G splice site 0.00001665
318. 179421975 c.88009+5G>A splice site 0.00001665
319. 179543469 c.33826+5A>C splice site 0.00001665
320. 179566252 c.30598+3A>T splice site 0.00001664
321. 179494168 c.44284C>A splice site 0.00001663
322. 179444663 c.67348+3A>G splice site 0.00001663
323. 179544616 c.33580+5A>C splice site 0.00001663
324. 179481745 c.47876-5T>C splice site 0.00001662
325. 179497526 c.43214-7C>G splice site 0.00001660
326. 179444277 c.67636+11A>G splice site 0.00001660
327. 179632478 c.9471+8C>T splice site 0.00001659
328. 179552960 c.32198-9C>A splice site 0.00001658
329. 179504772 c.40786+3G>A splice site 0.00001658
330. 179566318 c.30539-4C>A splice site 0.00001657
331. 179544973 c.33418+8A>G splice site 0.00001657
332. 179565840 c.30682+7T>C splice site 0.00001656
333. 179659979 c.915G>A splice site 0.00001653
334. 179648447 c.2841G>A splice site 0.00001653
335. 179664552 c.669G>A splice site 0.00001652
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489. 179575356 c.28462+6G>T splice site 0.00000851
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495. 179517960 c.38791+5T>G splice site 0.00000848
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507. 179517761 c.38875+7G>A splice site 0.00000844
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513. 179629544 c.9704-6T>C splice site 0.00000843
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518. 179654846 c.1801-4delT splice site 0.00000842
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524. 179463226 c.57111+7_57111+9delAAA splice site 0.00000841
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528. 179408555 c.96310+6C>G splice site 0.00000841
529. 179516387 c.39463+6C>T splice site 0.00000841
530. 179404102 c.98683+7_98683+8insAAGT splice site 0.00000841
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533. 179649083 c.2494-5T>C splice site 0.00000839
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535. 179649084 c.2494-6A>C splice site 0.00000839
536. 179598252 c.15776-8C>T splice site 0.00000839
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538. 179407385 c.97192+4A>G splice site 0.00000838
539. 179598249 c.15776-5T>G splice site 0.00000838
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541. 179449698 c.64673-3T>C splice site 0.00000838
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546. 179481201 c.48312+5G>A splice site 0.00000837
547. 179582663 c.25063+7G>A splice site 0.00000837
548. 179549484 c.32555-8C>A splice site 0.00000837
549. 179479078 c.49049-3C>T splice site 0.00000837
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551. 179497779 c.43087-8C>G splice site 0.00000837
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553. 179478663 c.49347T>C splice site 0.00000836
554. 179485830 c.45615T>A splice site 0.00000836
555. 179475123 c.51137-7G>T splice site 0.00000836
556. 179517273 c.39044-5T>C splice site 0.00000836
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558. 179473639 c.52103-4T>C splice site 0.00000836
559. 179642049 c.4646-5T>G splice site 0.00000836
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561. 179485728 c.45617-8G>C splice site 0.00000836
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565. 179463384 c.56963-3C>T splice site 0.00000835
566. 179638561 c.7330+4A>G splice site 0.00000835
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570. 179647799 c.2842-8C>T splice site 0.00000835
571. 179548819 c.32723-10C>G splice site 0.00000835
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573. 179544790 c.33419-8C>T splice site 0.00000835
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575. 179394841 c.106377C>T splice site 0.00000835
576. 179478480 c.49530C>T splice site 0.00000835
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580. 179542942 c.33911-7T>C splice site 0.00000834
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623. 179392996 c.107377+5G>A splice site 0.00000831
624. 179516816 c.39295+7dupA splice site 0.00000831
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628. 179392996 c.107377+5G>T splice site 0.00000831
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632. 179554535 c.31846+5A>G splice site 0.00000830
633. 179441642 c.69412+8G>A splice site 0.00000830
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639. 179560067 c.31270+8delA splice site 0.00000830
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641. 179483304 c.46966+7C>G splice site 0.00000830
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644. 179567174 c.30433+7delT splice site 0.00000829
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650. 179552959 c.32198-8T>A splice site 0.00000829
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654. 179632481 c.9471+5T>G splice site 0.00000829
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656. 179566322 c.30539-8C>T splice site 0.00000829
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661. 179554631 c.31763-8A>C splice site 0.00000828
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666. 179664544 c.669+8T>C splice site 0.00000826
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668. 179633397 c.9163+3A>G splice site 0.00000826
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670. 179664546 c.669+6T>C splice site 0.00000826
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674. 179632658 c.9306-7T>C splice site 0.00000825
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676. 179636197 c.7857T>G splice site 0.00000825
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681. 179635051 c.8381-4T>C splice site 0.00000825
682. 179632659 c.9306-8A>T splice site 0.00000825
683. 179635055 c.8381-8C>T splice site 0.00000825
684. 179636205 c.7856-7T>C splice site 0.00000825
685. 179650568 c.2370+7C>G splice site 0.00000824
686. 179664461 c.670-3C>T splice site 0.00000824
687. 179655432 c.1800+3G>A splice site 0.00000824
688. 179650467 c.2373C>A splice site 0.00000824
689. 179650472 c.2371-3C>T splice site 0.00000824
690. 179655427 c.1800+8C>G splice site 0.00000824
691. 179650572 c.2370+3G>A splice site 0.00000824
692. 179632737 c.9305+4A>C splice site 0.00000824
693. 179650475 c.2371-6A>G 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.