SCN5A protein-altering variants in ExAC


The table below lists the SCN5A protein-altering variants found in the ExAC population database with a mean allelic frequency (MAF) less than 0.0001, classified for this study as a rare variant. Click on each variant for more details, including presence in the 1000 Genomes and Exome Sequencing Project databases, a breakdown by ethnic class and the variant's role in inherited cardiac disease. Use the form below to customise the variant selection. The table can be sorted by variant location, variant type or ExAC frequency.




No. Genomic coord. Variant (CDS) Variant (Protein) Variant Type ExAC frequencyPopulations*
1. 38674795 c.4G>A p.A2T missense 0.00002537
2. 38674746 c.53G>A p.R18Q missense 0.00002506
3. 38674698 c.101G>A p.R34H missense 0.00002519
4. 38674671 c.128G>A p.R43Q missense 0.00003401
5. 38674657 c.142G>A p.E48K missense 0.00002557
6. 38674641 c.158G>A p.R53Q missense 0.00000850
7. 38674589 c.210T>G p.N70K missense 0.00002538
8. 38671911 c.283G>A p.V95I missense 0.00003313
9. 38671884 c.310C>T p.R104W missense 0.00000828
10. 38671867 c.327C>A p.N109K missense 0.00000828
11. 38671820 c.374T>G p.V125G missense 0.00000828
12. 38663959 c.414G>A p.M138I missense 0.00001130
13. 38663892 c.481G>A p.E161K missense 0.00002693
14. 38662391 c.554C>T p.A185V missense 0.00004341
15. 38655263 c.674G>A p.R225Q missense 0.00002900
16. 38655264 c.673C>T p.R225W missense 0.00001425
17. 38655249 c.688A>G p.I230V missense 0.00001763
18. 38651426 c.733C>A p.Q245K missense 0.00000828
19. 38651420 c.739G>C p.V247L missense 0.00005799
20. 38651314 c.845G>A p.R282H missense 0.00001657
21. 38651294 c.865G>A p.G289S missense 0.00002488
22. 38651285 c.874G>A p.G292S missense 0.00001659
23. 38651279 c.880G>A p.V294M missense 0.00003320
24. 38651267 c.892G>A p.G298S missense 0.00003326
25. 38651261 c.898G>A p.V300I missense 0.00000833
26. 38649685 c.955G>A p.G319S missense 0.00005797
27. 38649681 c.959C>A p.T320N missense 0.00001656
28. 38648281 c.1019G>A p.R340Q missense 0.00009233
29. 38648282 c.1018C>T p.R340W missense 0.00000839
30. 38648201 c.1099C>T p.R367C missense 0.00000841
31. 38647543 c.1237G>A p.A413T missense 0.00001657
32. 38647498 c.1282G>A p.E428K missense 0.00004978
33. 38647447 c.1333C>G p.H445D missense 0.00005257
34. 38646398 c.1340C>G p.A447G missense 0.00007533
35. 38646393 c.1345A>G p.T449A missense 0.00002085
36. 38646354 c.1384G>A p.E462K missense 0.00006254
37. 38646313 c.1425A>C p.R475S missense 0.00002536
38. 38645558 c.1535C>T p.T512I missense 0.00001490
39. 38645516 c.1577G>A p.R526H missense 0.00006845
40. 38645505 c.1588T>G p.F530V missense 0.00002029
41. 38645498 c.1595T>G p.F532C missense 0.00001904
42. 38645489 c.1604G>A p.R535Q missense 0.00001834
43. 38645439 c.1654G>C p.G552R missense 0.00001667
44. 38645430 c.1663G>A p.E555K missense 0.00004995
45. 38645417 c.1676C>T p.T559I missense 0.00000830
46. 38645393 c.1700T>A p.L567Q missense 0.00000829
47. 38645391 c.1702C>T p.R568C missense 0.00005806
48. 38645390 c.1703G>A p.R568H missense 0.00002488
49. 38645388 c.1705C>T p.R569W missense 0.00000829
50. 38645381 c.1712G>T p.S571I missense 0.00001658
51. 38645376 c.1717C>G p.Q573E missense 0.00000829
52. 38645238 c.1855C>T p.L619F missense 0.00003699
53. 38645235 c.1858C>T p.R620C missense 0.00000927
54. 38640537 c.1895C>T p.T632M missense 0.00000902
55. 38640489 c.1943C>T p.P648L missense 0.00003367
56. 38640472 c.1960G>A p.E654K missense 0.00004178
57. 38640451 c.1981C>T p.R661W missense 0.00002500
58. 38639417 c.2065C>T p.R689C missense 0.00001664
59. 38639411 c.2071G>A p.A691T missense 0.00004985
60. 38639368 c.2114C>T p.S705F missense 0.00006624
61. 38639332 c.2150C>T p.P717L missense 0.00000828
62. 38639278 c.2204C>T p.A735V missense 0.00000828
63. 38639246 c.2236G>A p.E746K missense 0.00001661
64. 38629013 c.2314G>A p.D772N missense 0.00001658
65. 38628962 c.2365G>A p.V789I missense 0.00007501
66. 38627528 c.2441G>A p.R814Q missense 0.00001762
67. 38627292 c.2677C>T p.R893C missense 0.00000826
68. 38622757 c.2893C>T p.R965C missense 0.00006504
69. 38622756 c.2894G>A p.R965H missense 0.00001878
70. 38622739 c.2911C>T p.R971C missense 0.00000959
71. 38622727 c.2923C>T p.R975W missense 0.00001943
72. 38622706 c.2944T>C p.C982R missense 0.00008792
73. 38622693 c.2957G>A p.R986Q missense 0.00001975
74. 38622603 c.3047C>T p.T1016M missense 0.00009559
75. 38622532 c.3118G>A p.G1040R missense 0.00005015
76. 38622529 c.3121G>A p.D1041N missense 0.00007514
77. 38622493 c.3157G>A p.E1053K missense 0.00009987
78. 38620970 c.3245T>C p.V1082A missense 0.00000914
79. 38620916 c.3299C>T p.A1100V missense 0.00005657
80. 38620877 c.3338C>T p.A1113V missense 0.00001343
81. 38620875 c.3340G>A p.D1114N missense 0.00001402
82. 38620869 c.3346C>T p.R1116W missense 0.00001554
83. 38618271 c.3392C>T p.T1131I missense 0.00004455
84. 38616898 c.3556G>A p.A1186T missense 0.00002453
85. 38616870 c.3584G>A p.R1195H missense 0.00004519
86. 38608058 c.3682T>C p.Y1228H missense 0.00000828
87. 38608045 c.3695G>A p.R1232Q missense 0.00001654
88. 38608022 c.3718G>C p.E1240Q missense 0.00004127
89. 38607956 c.3784G>A p.G1262S missense 0.00003296
90. 38603913 c.3956G>T p.G1319V missense 0.00001415
91. 38601898 c.3985G>A p.G1329S missense 0.00001693
92. 38601883 c.4000A>G p.I1334V missense 0.00000834
93. 38601871 c.4012C>G p.L1338V missense 0.00000826
94. 38601865 c.4018G>A p.V1340I missense 0.00004951
95. 38601826 c.4057G>A p.V1353M missense 0.00004943
96. 38598027 c.4342A>C p.I1448L missense 0.00002780
97. 38597211 c.4478A>G p.K1493R missense 0.00002471
98. 38597188 c.4501C>G p.L1501V missense 0.00002471
99. 38597155 c.4534C>T p.R1512W missense 0.00007427
100. 38596010 c.4573G>A p.V1525M missense 0.00000829
101. 38595835 c.4748G>A p.R1583H missense 0.00002485
102. 38595797 c.4786T>A p.F1596I missense 0.00006651
103. 38595794 c.4789G>A p.V1597M missense 0.00001667
104. 38595773 c.4810G>A p.V1604M missense 0.00003419
105. 38593004 c.4859C>T p.T1620M missense 0.00000826
106. 38592986 c.4877G>A p.R1626H missense 0.00006597
107. 38592968 c.4895G>A p.R1632H missense 0.00000824
108. 38592929 c.4934C>T p.T1645M missense 0.00002471
109. 38592885 c.4978A>G p.I1660V missense 0.00002471
110. 38592825 c.5038G>A p.A1680T missense 0.00002471
111. 38592771 c.5092G>A p.A1698T missense 0.00000824
112. 38592737 c.5126C>T p.T1709M missense 0.00000824
113. 38592734 c.5129C>T p.S1710L missense 0.00000824
114. 38592648 c.5215C>T p.R1739W missense 0.00003306
115. 38592624 c.5239G>A p.V1747M missense 0.00001650
116. 38592534 c.5329G>A p.V1777M missense 0.00002478
117. 38592527 c.5336C>T p.T1779M missense 0.00003305
118. 38592387 c.5476C>T p.R1826C missense 0.00002484
119. 38592386 c.5477G>A p.R1826H missense 0.00003312
120. 38592369 c.5494C>G p.Q1832E missense 0.00007452
121. 38592174 c.5689C>T p.R1897W missense 0.00009936
122. 38592162 c.5701G>A p.E1901K missense 0.00004140
123. 38592162 c.5701G>C p.E1901Q missense 0.00002484
124. 38592125 c.5738G>A p.R1913H missense 0.00003312
125. 38592108 c.5755C>T p.R1919C missense 0.00002485
126. 38592093 c.5770G>A p.A1924T missense 0.00004144
127. 38592060 c.5803G>A p.G1935S missense 0.00001673
128. 38592051 c.5812G>A p.E1938K missense 0.00000840
129. 38592021 c.5842A>G p.I1948V missense 0.00000853
130. 38592012 c.5851G>A p.V1951M missense 0.00008632
131. 38591990 c.5873G>A p.R1958Q missense 0.00006181
132. 38591972 c.5891C>T p.S1964F missense 0.00003525
133. 38591959 c.5904C>G p.I1968M missense 0.00002650
134. 38591960 c.5903T>G p.I1968S missense 0.00002652
135. 38591902 c.5961C>A p.N1987K missense 0.00000905
136. 38591853 c.6010T>G p.F2004V missense 0.00002751
137. 38591829 c.6034C>T p.R2012C missense 0.00001844
138. 38592107 c.5756G>A p.R1919H missense 0.00000828
139. 38627416 c.2553C>A p.F851L missense 0.00000825
140. 38646296 c.1442G>A p.R481Q missense 0.00000837
141. 38645556 c.1537C>T p.R513C missense 0.00004433
142. 38622745 c.2905G>T p.G969C missense 0.00001893
143. 38628905 c.2422C>T p.R808C missense 0.00000884
144. 38601722 c.4161G>C p.L1387F missense 0.00001684
145. 38616792 c.3662C>T p.A1221V missense 0.00003077
146. 38645213 c.1880C>T p.P627L missense 0.00000938
147. 38607934 c.3806A>G p.N1269S missense 0.00000824
148. 38601751 c.4132G>A p.V1378M missense 0.00000831
149. 38592489 c.5374G>A p.D1792N missense 0.00002482
150. 38592647 c.5216G>A p.R1739Q missense 0.00000826
151. 38598739 c.4282G>T p.A1428S missense 0.00002486
152. 38601785 c.4098G>T p.Q1366H missense 0.00000825
153. 38622540 c.3110G>T p.G1037V missense 0.00000836
154. 38640492 c.1940C>T p.A647V missense 0.00000842
155. 38645439 c.1654G>T p.G552W missense 0.00001667
156. 38645441 c.1652C>T p.A551V missense 0.00004171
157. 38645525 c.1568G>A p.R523H missense 0.00001208
158. 38648249 c.1051G>A p.G351S missense 0.00000830
159. 38671914 c.280A>G p.I94V missense 0.00001656
160. 38674546 c.253C>A p.P85T missense 0.00000900
161. 38674564 c.235C>T p.P79S missense 0.00000878
162. 38674614 c.185A>C p.K62T missense 0.00000842
163. 38674713 c.86C>T p.A29V missense 0.00007486
164. 38648255 c.1045G>A p.D349N missense 0.00001661
165. 38628928 c.2399G>T p.R800L missense 0.00000850
166. 38592495 c.5368G>A p.D1790N missense 0.00001654
167. 38651318 c.841G>A p.V281M missense 0.00000829
168. 38591856 c.6007G>A p.D2003N missense 0.00003667
169. 38591892 c.5971C>T p.R1991W missense 0.00002724
170. 38592068 c.5795C>T p.A1932V missense 0.00006666
171. 38592170 c.5693G>A p.R1898H missense 0.00006624
172. 38592171 c.5692C>T p.R1898C missense 0.00002484
173. 38592339 c.5524A>T p.M1842L missense 0.00000828
174. 38592428 c.5435C>T p.S1812L missense 0.00002484
175. 38592474 c.5389A>G p.I1797V missense 0.00000828
176. 38592947 c.4916G>C p.G1639A missense 0.00000824
177. 38592950 c.4913G>A p.R1638Q missense 0.00001647
178. 38596039 c.4544A>G p.N1515S missense 0.00000836
179. 38597154 c.4535G>A p.R1512Q missense 0.00002477
180. 38601813 c.4070C>T p.A1357V missense 0.00008240
181. 38616912 c.3542T>C p.V1181A missense 0.00003900
182. 38616930 c.3524G>A p.R1175H missense 0.00005767
183. 38616934 c.3520C>T p.R1174W missense 0.00002983
184. 38618272 c.3391A>T p.T1131S missense 0.00002228
185. 38620827 c.3388G>A p.E1130K missense 0.00003718
186. 38620953 c.3262G>A p.A1088T missense 0.00006309
187. 38620980 c.3235T>A p.S1079T missense 0.00000927
188. 38622554 c.3096G>T p.E1032D missense 0.00000839
189. 38622556 c.3094G>A p.E1032K missense 0.00005033
190. 38622618 c.3032C>T p.P1011L missense 0.00003570
191. 38639404 c.2078G>A p.R693H missense 0.00001658
192. 38639405 c.2077C>T p.R693C missense 0.00004976
193. 38639444 c.2038C>T p.R680C missense 0.00001693
194. 38640448 c.1984G>T p.A662S missense 0.00002499
195. 38640456 c.1976G>A p.R659Q missense 0.00000834
196. 38647533 c.1247A>G p.Y416C missense 0.00000828
197. 38648258 c.1042C>G p.P348A missense 0.00000831
198. 38648264 c.1036G>A p.E346K missense 0.00002496
199. 38662437 c.508T>A p.F170I missense 0.00000849
200. 38671839 c.355C>T p.P119S missense 0.00001656
201. 38674590 c.209A>G p.N70S missense 0.00003383
202. 38674740 c.59C>T p.S20F missense 0.00000835
203. 38674755 c.44G>C p.R15T missense 0.00004187
204. 38674790 c.9C>G p.N3K missense 0.00000844
205. 38628895 c.2432G>A p.R811H missense 0.00000927
206. 38671866 c.328G>A p.A110T missense 0.00001656
207. 38646221 c.1517T>A p.M506K missense 0.00000847
208. 38640439 c.1993G>T p.A665S missense 0.00001665
209. 38622688 c.2962C>T p.R988W missense 0.00003963
210. 38592003 c.5860G>A p.E1954K missense 0.00003480
211. 38592078 c.5785C>T p.R1929C missense 0.00001661
212. 38647483 c.1297C>T p.R433C missense 0.00001668
213. 38647508 c.1272C>G p.I424M missense 0.00004973
214. 38645317 c.1776C>G p.N592K missense 0.00005089
215. 38622660 c.2990C>A p.A997D missense 0.00001915
216. 38622583 c.3067C>T p.R1023C missense 0.00002549
217. 38674756 c.43A>G p.R15G missense 0.00001675
218. 38592195 c.5668G>A p.E1890K missense 0.00002484
219. 38591888 c.5975G>C p.G1992A missense 0.00000909
220. 38591946 c.5917T>C p.F1973L missense 0.00001774
221. 38592246 c.5617A>G p.I1873V missense 0.00000828
222. 38603943 c.3926G>A p.R1309H missense 0.00001048
223. 38620917 c.3298G>A p.A1100T missense 0.00000937
224. 38622517 c.3133G>A p.V1045M missense 0.00002500
225. 38622684 c.2966C>T p.P989L missense 0.00000983
226. 38628928 c.2399G>A p.R800H missense 0.00001700
227. 38640531 c.1901C>T p.S634L missense 0.00004418
228. 38645517 c.1576C>T p.R526C missense 0.00009145
229. 38647537 c.1243G>A p.A415T missense 0.00000828
230. 38655234 c.703G>A p.G235R missense 0.00002301
231. 38674605 c.194C>T p.P65L missense 0.00000841
232. 38674725 c.74A>G p.E25G missense 0.00000833
233. 38674776 c.23G>C p.R8P missense 0.00000842
234. 38646340 c.1398G>T p.L466F missense 0.00003481
235. 38645204 c.1889C>T p.T630M missense 0.00005657
236. 38592566 c.5297T>C p.M1766T missense 0.00003299
237. 38591817 c.6046G>A p.V2016M missense 0.00003697
238. 38591828 c.6035G>A p.R2012H missense 0.00004612
239. 38591835 c.6028A>G p.R2010G missense 0.00002763
240. 38591836 c.6027C>G p.D2009E missense 0.00000921
241. 38591840 c.6023C>T p.P2008L missense 0.00001841
242. 38591849 c.6014C>T p.P2005L missense 0.00000918
243. 38591850 c.6013C>T p.P2005S missense 0.00000918
244. 38591851 c.6012C>G p.F2004L missense 0.00000918
245. 38591853 c.6010T>A p.F2004I missense 0.00001834
246. 38591859 c.6004G>T p.A2002S missense 0.00000916
247. 38591865 c.5998G>T p.D2000Y missense 0.00001827
248. 38591873 c.5990A>G p.H1997R missense 0.00000912
249. 38591895 c.5968G>C p.V1990L missense 0.00000907
250. 38591895 c.5968G>A p.V1990M missense 0.00000907
251. 38591907 c.5956G>A p.D1986N missense 0.00000904
252. 38591912 c.5951C>T p.T1984I missense 0.00003603
253. 38591915 c.5948C>T p.A1983V missense 0.00000899
254. 38591918 c.5945G>C p.R1982T missense 0.00000898
255. 38591925 c.5938G>T p.V1980F missense 0.00002687
256. 38591957 c.5906C>T p.S1969F missense 0.00000884
257. 38591960 c.5903T>A p.I1968N missense 0.00000884
258. 38591961 c.5902A>G p.I1968V missense 0.00000885
259. 38591970 c.5893A>G p.S1965G missense 0.00000883
260. 38591975 c.5888C>T p.P1963L missense 0.00000882
261. 38591994 c.5869T>C p.S1957P missense 0.00000875
262. 38592018 c.5845G>A p.A1949T missense 0.00001716
263. 38592032 c.5831G>A p.R1944Q missense 0.00001694
264. 38592039 c.5824C>T p.P1942S missense 0.00000843
265. 38592054 c.5809T>G p.S1937A missense 0.00000838
266. 38592065 c.5798G>A p.G1933D missense 0.00000834
267. 38592065 c.5798G>C p.G1933A missense 0.00000834
268. 38592065 c.5798G>T p.G1933V missense 0.00000834
269. 38592077 c.5786G>A p.R1929H missense 0.00002492
270. 38592096 c.5767C>T p.H1923Y missense 0.00000829
271. 38592104 c.5759C>G p.S1920C missense 0.00000828
272. 38592113 c.5750T>C p.L1917P missense 0.00000828
273. 38592120 c.5743C>T p.H1915Y missense 0.00000828
274. 38592120 c.5743C>A p.H1915N missense 0.00000828
275. 38592123 c.5740A>G p.R1914G missense 0.00000828
276. 38592141 c.5722A>G p.I1908V missense 0.00000828
277. 38592146 c.5717T>C p.M1906T missense 0.00001656
278. 38592173 c.5690G>A p.R1897Q missense 0.00001656
279. 38592176 c.5687T>C p.L1896P missense 0.00001656
280. 38592179 c.5684C>T p.T1895I missense 0.00000828
281. 38592212 c.5651C>T p.P1884L missense 0.00008280
282. 38592239 c.5624T>A p.M1875K missense 0.00000828
283. 38592308 c.5555A>T p.D1852V missense 0.00000828
284. 38592324 c.5539C>T p.R1847C missense 0.00000828
285. 38592338 c.5525T>C p.M1842T missense 0.00000828
286. 38592339 c.5524A>G p.M1842V missense 0.00000828
287. 38592381 c.5482G>A p.A1828T missense 0.00002484
288. 38592396 c.5467G>A p.E1823K missense 0.00000828
289. 38592405 c.5458G>A p.A1820T missense 0.00001656
290. 38592415 c.5448C>G p.D1816E missense 0.00000828
291. 38592436 c.5427T>G p.I1809M missense 0.00000828
292. 38592488 c.5375A>T p.D1792V missense 0.00000827
293. 38592551 c.5312T>C p.I1771T missense 0.00000825
294. 38592587 c.5276C>G p.S1759C missense 0.00000824
295. 38592626 c.5237C>T p.A1746V missense 0.00004950
296. 38592642 c.5221G>A p.D1741N missense 0.00002479
297. 38592651 c.5212T>A p.S1738T missense 0.00000826
298. 38592653 c.5210G>A p.G1737D missense 0.00001653
299. 38592674 c.5189C>T p.P1730L missense 0.00001652
300. 38592675 c.5188C>G p.P1730A missense 0.00000826
301. 38592678 c.5185G>A p.D1729N missense 0.00000826
302. 38592709 c.5154C>A p.S1718R missense 0.00000825
303. 38592760 c.5103G>T p.M1701I missense 0.00000824
304. 38592798 c.5065G>A p.D1689N missense 0.00000824
305. 38592821 c.5042A>T p.Y1681F missense 0.00000824
306. 38592830 c.5033A>G p.N1678S missense 0.00002471
307. 38592835 c.5028G>A p.M1676I missense 0.00003295
308. 38592836 c.5027T>C p.M1676T missense 0.00000824
309. 38592860 c.5003T>C p.M1668T missense 0.00000824
310. 38592932 c.4931G>T p.R1644L missense 0.00000824
311. 38593007 c.4856C>A p.P1619Q missense 0.00000827
312. 38593034 c.4829A>G p.D1610G missense 0.00000838
313. 38593037 c.4826C>T p.S1609L missense 0.00001680
314. 38593046 c.4817C>T p.T1606I missense 0.00001698
315. 38593049 c.4814G>A p.G1605D missense 0.00000851
316. 38595790 c.4793T>C p.V1598A missense 0.00000836
317. 38595796 c.4787T>G p.F1596C missense 0.00000832
318. 38595829 c.4754A>G p.Y1585C missense 0.00000828
319. 38595884 c.4699T>C p.F1567L missense 0.00000828
320. 38595908 c.4675A>G p.I1559V missense 0.00005796
321. 38595914 c.4669A>G p.I1557V missense 0.00000828
322. 38595920 c.4663G>A p.E1555K missense 0.00000828
323. 38595932 c.4651G>A p.D1551N missense 0.00000828
324. 38595956 c.4627G>C p.V1543L missense 0.00000828
325. 38595967 c.4616G>A p.C1539Y missense 0.00000828
326. 38595989 c.4594G>T p.V1532F missense 0.00003313
327. 38595997 c.4586C>T p.A1529V missense 0.00000828
328. 38596016 c.4567G>A p.D1523N missense 0.00004975
329. 38597154 c.4535G>T p.R1512L missense 0.00000826
330. 38597164 c.4525C>A p.P1509T missense 0.00000824
331. 38597172 c.4517C>T p.P1506L missense 0.00000824
332. 38597240 c.4449G>C p.Q1483H missense 0.00000824
333. 38598036 c.4333T>C p.Y1445H missense 0.00006331
334. 38598044 c.4325A>G p.Y1442C missense 0.00000891
335. 38598045 c.4324T>A p.Y1442N missense 0.00000890
336. 38598052 c.4317G>C p.Q1439H missense 0.00000887
337. 38598751 c.4270A>G p.I1424V missense 0.00000828
338. 38598754 c.4267G>C p.D1423H missense 0.00000828
339. 38601712 c.4171G>A p.G1391R missense 0.00003412
340. 38601752 c.4131C>G p.I1377M missense 0.00000830
341. 38601760 c.4123T>C p.Y1375H missense 0.00000828
342. 38601774 c.4109A>G p.D1370G missense 0.00007434
343. 38601786 c.4097A>G p.Q1366R missense 0.00000825
344. 38601797 c.4086G>T p.R1362S missense 0.00000824
345. 38601807 c.4076A>T p.K1359M missense 0.00000824
346. 38601835 c.4048A>C p.I1350L missense 0.00000824
347. 38603909 c.3960G>A p.M1320I missense 0.00001481
348. 38603919 c.3950T>G p.F1317C missense 0.00002605
349. 38603922 c.3947G>A p.R1316Q missense 0.00002548
350. 38603922 c.3947G>T p.R1316L missense 0.00001274
351. 38603952 c.3917G>A p.R1306H missense 0.00000980
352. 38603982 c.3887T>C p.M1296T missense 0.00000870
353. 38603988 c.3881C>G p.A1294G missense 0.00000864
354. 38607921 c.3819G>T p.W1273C missense 0.00000824
355. 38607948 c.3792G>C p.K1264N missense 0.00000824
356. 38607977 c.3763C>A p.L1255M missense 0.00000824
357. 38608000 c.3740C>T p.T1247I missense 0.00005771
358. 38608005 c.3735G>A p.M1245I missense 0.00000825
359. 38608052 c.3688G>A p.E1230K missense 0.00002482
360. 38608057 c.3683A>G p.Y1228C missense 0.00000828
361. 38616811 c.3643A>G p.I1215V missense 0.00000993
362. 38616832 c.3622G>A p.E1208K missense 0.00002030
363. 38616851 c.3603C>G p.I1201M missense 0.00001050
364. 38616894 c.3560C>A p.P1187Q missense 0.00002420
365. 38616933 c.3521G>A p.R1174Q missense 0.00002954
366. 38616936 c.3518T>A p.V1173D missense 0.00001495
367. 38618157 c.3506C>T p.T1169I missense 0.00001038
368. 38618170 c.3493G>C p.E1165Q missense 0.00001053
369. 38618196 c.3467A>G p.D1156G missense 0.00004324
370. 38618200 c.3463C>T p.P1155S missense 0.00002171
371. 38618204 c.3459G>C p.Q1153H missense 0.00005455
372. 38618221 c.3442G>T p.A1148S missense 0.00001116
373. 38618221 c.3442G>A p.A1148T missense 0.00003348
374. 38618223 c.3440C>A p.T1147N missense 0.00006652
375. 38618223 c.3440C>T p.T1147I missense 0.00001109
376. 38618251 c.3412G>A p.E1138K missense 0.00001118
377. 38618259 c.3404G>T p.S1135I missense 0.00004450
378. 38618263 c.3400G>A p.D1134N missense 0.00001114
379. 38618269 c.3394C>T p.P1132S missense 0.00001114
380. 38620841 c.3374C>G p.A1125G missense 0.00007867
381. 38620872 c.3343T>C p.W1115R missense 0.00001456
382. 38620890 c.3325A>G p.S1109G missense 0.00004581
383. 38620901 c.3314A>T p.E1105V missense 0.00001022
384. 38620907 c.3308C>T p.S1103F missense 0.00001961
385. 38620930 c.3285G>T p.W1095C missense 0.00001821
386. 38620943 c.3272A>C p.D1091A missense 0.00000903
387. 38620952 c.3263C>T p.A1088V missense 0.00000902
388. 38620967 c.3248C>G p.S1083C missense 0.00000910
389. 38620986 c.3229C>A p.Q1077K missense 0.00000929
390. 38622447 c.3203G>A p.G1068D missense 0.00000865
391. 38622447 c.3203G>C p.G1068A missense 0.00000865
392. 38622454 c.3196A>G p.S1066G missense 0.00000853
393. 38622462 c.3188A>G p.E1063G missense 0.00000846
394. 38622466 c.3184G>C p.D1062H missense 0.00000843
395. 38622467 c.3183A>C p.E1061D missense 0.00001659
396. 38622498 c.3152T>C p.V1051A missense 0.00000832
397. 38622528 c.3122A>G p.D1041G missense 0.00000835
398. 38622532 c.3118G>C p.G1040R missense 0.00000836
399. 38622541 c.3109G>A p.G1037S missense 0.00000836
400. 38622570 c.3080G>A p.R1027Q missense 0.00005059
401. 38622582 c.3068G>C p.R1023P missense 0.00000849
402. 38622598 c.3052A>G p.K1018E missense 0.00000863
403. 38622607 c.3043G>A p.E1015K missense 0.00000874
404. 38622619 c.3031C>T p.P1011S missense 0.00002676
405. 38622627 c.3023C>T p.P1008L missense 0.00000899
406. 38622630 c.3020C>T p.T1007I missense 0.00000902
407. 38622636 c.3014T>C p.I1005T missense 0.00000911
408. 38622646 c.3004C>T p.P1002S missense 0.00001863
409. 38622651 c.2999A>T p.Q1000L missense 0.00000942
410. 38622667 c.2983C>T p.L995F missense 0.00001940
411. 38622673 c.2977G>A p.A993T missense 0.00001960
412. 38622679 c.2971A>G p.K991E missense 0.00000981
413. 38622687 c.2963G>A p.R988Q missense 0.00003947
414. 38622715 c.2935G>C p.D979H missense 0.00000976
415. 38622726 c.2924G>A p.R975Q missense 0.00000970
416. 38622738 c.2912G>A p.R971H missense 0.00000960
417. 38622757 c.2893C>G p.R965G missense 0.00000929
418. 38622766 c.2884G>A p.A962T missense 0.00000911
419. 38622791 c.2859C>G p.D953E missense 0.00000874
420. 38622793 c.2857G>T p.D953Y missense 0.00000872
421. 38622796 c.2854G>A p.E952K missense 0.00000871
422. 38622816 c.2834A>G p.D945G missense 0.00001746
423. 38627188 c.2781C>G p.N927K missense 0.00000857
424. 38627286 c.2683C>T p.L895F missense 0.00000826
425. 38627287 c.2682C>G p.I894M missense 0.00000826
426. 38627297 c.2672T>C p.I891T missense 0.00000826
427. 38627297 c.2672T>A p.I891N missense 0.00000826
428. 38627348 c.2621G>A p.G874D missense 0.00000825
429. 38627352 c.2617T>G p.S873A missense 0.00000825
430. 38627355 c.2614G>A p.D872N missense 0.00001651
431. 38627362 c.2607G>C p.R869S missense 0.00000825
432. 38627372 c.2597C>T p.S866L missense 0.00001650
433. 38627373 c.2596T>C p.S866P missense 0.00000825
434. 38627397 c.2572A>T p.M858L missense 0.00000825
435. 38627399 c.2570G>A p.G857D missense 0.00000825
436. 38627446 c.2523C>A p.N841K missense 0.00000825
437. 38627463 c.2506G>A p.V836M missense 0.00000825
438. 38628904 c.2423G>A p.R808H missense 0.00001777
439. 38628911 c.2416G>A p.V806M missense 0.00000870
440. 38628913 c.2414C>T p.S805L missense 0.00001730
441. 38628929 c.2398C>T p.R800C missense 0.00001695
442. 38628961 c.2366T>C p.V789A missense 0.00000833
443. 38628977 c.2350T>C p.F784L missense 0.00000831
444. 38629038 c.2289G>C p.E763D missense 0.00000829
445. 38629040 c.2287G>A p.E763K missense 0.00001658
446. 38629052 c.2275A>G p.I759V missense 0.00000830
447. 38639231 c.2251G>A p.V751I missense 0.00000837
448. 38639231 c.2251G>T p.V751F missense 0.00000837
449. 38639242 c.2240A>C p.E747A missense 0.00000832
450. 38639258 c.2224A>G p.T742A missense 0.00000829
451. 38639283 c.2199C>G p.F733L missense 0.00001656
452. 38639292 c.2190C>A p.N730K missense 0.00000828
453. 38639311 c.2171C>T p.T724I missense 0.00000828
454. 38639328 c.2154T>G p.F718L missense 0.00000828
455. 38639341 c.2141T>C p.V714A missense 0.00005795
456. 38639411 c.2071G>T p.A691S missense 0.00000831
457. 38639452 c.2030A>T p.E677V missense 0.00000851
458. 38640421 c.2011A>T p.S671C missense 0.00000832
459. 38640430 c.2002G>A p.V668I missense 0.00001665
460. 38640439 c.1993G>A p.A665T missense 0.00004162
461. 38640457 c.1975C>T p.R659W missense 0.00003334
462. 38640459 c.1973C>T p.A658V missense 0.00000834
463. 38640477 c.1955G>A p.G652D missense 0.00000836
464. 38640487 c.1945T>C p.C649R missense 0.00000840
465. 38640493 c.1939G>T p.A647S missense 0.00001686
466. 38640514 c.1918C>T p.P640S missense 0.00000857
467. 38640526 c.1906G>A p.E636K missense 0.00000876
468. 38640531 c.1901C>G p.S634W missense 0.00000884
469. 38645218 c.1875G>C p.E625D missense 0.00003739
470. 38645225 c.1868T>C p.M623T missense 0.00000931
471. 38645234 c.1859G>A p.R620H missense 0.00002784
472. 38645246 c.1847G>A p.S616N missense 0.00000921
473. 38645265 c.1828G>A p.E610K missense 0.00000915
474. 38645271 c.1822G>C p.D608H missense 0.00000913
475. 38645271 c.1822G>A p.D608N missense 0.00000913
476. 38645273 c.1820G>T p.G607V missense 0.00006371
477. 38645273 c.1820G>A p.G607D missense 0.00000910
478. 38645298 c.1795G>A p.G599R missense 0.00000880
479. 38645331 c.1762C>A p.H588N missense 0.00000836
480. 38645336 c.1757C>G p.A586G missense 0.00000835
481. 38645343 c.1750G>C p.G584R missense 0.00002495
482. 38645351 c.1742C>T p.S581L missense 0.00001661
483. 38645384 c.1709C>A p.T570N missense 0.00000829
484. 38645387 c.1706G>A p.R569Q missense 0.00001659
485. 38645417 c.1676C>G p.T559R missense 0.00000830
486. 38645424 c.1669C>T p.H557Y missense 0.00001661
487. 38645480 c.1613G>A p.G538D missense 0.00000880
488. 38645496 c.1597C>T p.R533C missense 0.00000949
489. 38645496 c.1597C>A p.R533S missense 0.00002846
490. 38645499 c.1594T>C p.F532L missense 0.00000960
491. 38645501 c.1592C>T p.T531I missense 0.00000973
492. 38645502 c.1591A>G p.T531A missense 0.00001965
493. 38645504 c.1589T>C p.F530S missense 0.00001000
494. 38645509 c.1584C>A p.S528R missense 0.00002158
495. 38645514 c.1579G>A p.G527R missense 0.00004435
496. 38645535 c.1558A>G p.M520V missense 0.00006381
497. 38645542 c.1551G>C p.R517S missense 0.00001341
498. 38646220 c.1518G>A p.M506I missense 0.00000849
499. 38646224 c.1514C>A p.A505E missense 0.00001689
500. 38646227 c.1511G>C p.R504T missense 0.00000842
501. 38646269 c.1469G>A p.G490E missense 0.00000832
502. 38646282 c.1456A>G p.T486A missense 0.00000833
503. 38646298 c.1440A>C p.K480N missense 0.00000838
504. 38646314 c.1424G>A p.R475K missense 0.00000846
505. 38646317 c.1421G>A p.R474K missense 0.00001697
506. 38646335 c.1403C>T p.P468L missense 0.00000867
507. 38646350 c.1388T>C p.M463T missense 0.00000885
508. 38646350 c.1388T>G p.M463R missense 0.00000885
509. 38646372 c.1366G>A p.V456M missense 0.00001889
510. 38647445 c.1335C>A p.H445Q missense 0.00000879
511. 38647459 c.1321C>T p.L441F missense 0.00000862
512. 38647470 c.1310C>T p.A437V missense 0.00000848
513. 38647483 c.1297C>A p.R433S missense 0.00000834
514. 38647507 c.1273G>C p.A425P missense 0.00000829
515. 38647551 c.1229C>T p.A410V missense 0.00000828
516. 38647570 c.1210C>G p.L404V missense 0.00000828
517. 38647574 c.1206C>G p.F402L missense 0.00000829
518. 38647617 c.1163T>G p.I388S missense 0.00000831
519. 38647627 c.1153G>A p.A385T missense 0.00000832
520. 38647630 c.1150T>A p.S384T missense 0.00000832
521. 38648263 c.1037A>G p.E346G missense 0.00000832
522. 38649646 c.994G>A p.A332T missense 0.00000828
523. 38649651 c.989C>T p.S330F missense 0.00000828
524. 38649691 c.949A>G p.K317E missense 0.00000828
525. 38651243 c.916C>G p.L306V missense 0.00000841
526. 38651243 c.916C>T p.L306F missense 0.00000841
527. 38651246 c.913G>A p.D305N missense 0.00001678
528. 38651262 c.897G>C p.L299F missense 0.00001665
529. 38651266 c.893G>A p.G298D missense 0.00000832
530. 38651276 c.883G>A p.E295K missense 0.00000830
531. 38651296 c.863A>G p.N288S missense 0.00000829
532. 38651302 c.857C>T p.A286V missense 0.00000829
533. 38651305 c.854C>A p.T285K missense 0.00000829
534. 38651357 c.802G>A p.G268S missense 0.00000828
535. 38651362 c.797T>A p.L266H missense 0.00000828
536. 38651365 c.794C>T p.A265V missense 0.00000828
537. 38651372 c.787G>A p.V263I missense 0.00001657
538. 38651375 c.784A>G p.S262G missense 0.00000828
539. 38655257 c.680T>C p.L227P missense 0.00001571
540. 38655282 c.655C>T p.R219C missense 0.00003863
541. 38662376 c.569G>T p.R190L missense 0.00004241
542. 38662377 c.568C>T p.R190W missense 0.00001365
543. 38662385 c.560C>G p.T187S missense 0.00002363
544. 38662409 c.536G>A p.R179Q missense 0.00002722
545. 38662425 c.520G>A p.V174I missense 0.00000860
546. 38662460 c.485A>G p.Y162C missense 0.00000846
547. 38662461 c.484T>C p.Y162H missense 0.00000846
548. 38663897 c.476A>G p.Y159C missense 0.00001260
549. 38663919 c.454G>A p.D152N missense 0.00002166
550. 38663946 c.427A>G p.T143A missense 0.00001077
551. 38663964 c.409A>G p.I137V missense 0.00002291
552. 38663970 c.403A>G p.M135V missense 0.00001169
553. 38671826 c.368C>T p.A123V missense 0.00004141
554. 38671838 c.356C>T p.P119L missense 0.00000828
555. 38671859 c.335A>G p.Y112C missense 0.00000828
556. 38671877 c.317G>C p.S106T missense 0.00000828
557. 38671892 c.302C>T p.T101I missense 0.00000828
558. 38671911 c.283G>C p.V95L missense 0.00000828
559. 38671919 c.275C>T p.T92I missense 0.00005798
560. 38674537 c.262A>G p.S88G missense 0.00000904
561. 38674543 c.256T>C p.F86L missense 0.00000901
562. 38674546 c.253C>T p.P85S missense 0.00000900
563. 38674553 c.246C>A p.D82E missense 0.00002678
564. 38674553 c.246C>G p.D82E missense 0.00000893
565. 38674563 c.236C>A p.P79H missense 0.00000879
566. 38674564 c.235C>G p.P79A missense 0.00000878
567. 38674593 c.206G>A p.G69D missense 0.00002533
568. 38674644 c.155C>A p.P52H missense 0.00000849
569. 38674647 c.152C>T p.A51V missense 0.00000849
570. 38674654 c.145G>A p.E49K missense 0.00000851
571. 38674690 c.109A>G p.T37A missense 0.00001686
572. 38674716 c.83T>C p.M28T missense 0.00000832
573. 38674717 c.82A>T p.M28L missense 0.00001664
574. 38674719 c.80G>T p.R27L missense 0.00001665
575. 38674720 c.79C>T p.R27C missense 0.00002497
576. 38674726 c.73G>A p.E25K missense 0.00000833
577. 38674732 c.67G>T p.A23S missense 0.00000833
578. 38674734 c.65C>T p.A22V missense 0.00000833
579. 38674751 c.48C>G p.F16L missense 0.00000837
580. 38674759 c.40C>A p.R14S missense 0.00000838
581. 38674770 c.29C>G p.T10S missense 0.00000841
582. 38674774 c.25G>A p.G9S missense 0.00002524
583. 38674776 c.23G>A p.R8Q missense 0.00005051
584. 38674779 c.20C>G p.P7R missense 0.00000843
585. 38674791 c.8A>G p.N3S missense 0.00000845
586. 38592978 c.4885C>T p.R1629X nonsense 0.00000824
587. 38592951 c.4912C>T p.R1638X nonsense 0.00002471
588. 38591991 c.5872C>T p.R1958X nonsense 0.00007039
589. 38592051 c.5812G>T p.E1938X nonsense 0.00000840
590. 38591813 c.6050G>A nonsense 0.00001850
591. 38663981 c.393-1C>T essential splice site 0.00001262
592. 38603905 c.3963+1G>A essential splice site 0.00001557
593. 38655327 c.612-2A>G essential splice site 0.00001451
594. 38595769 c.4813+1G>A essential splice site 0.00000862
595. 38598070 c.4300-1G>T essential splice site 0.00000891
596. 38592004 c.5859_5862delTGAG p.Ser1953ArgfsTer84 frameshift 0.00000872
597. 38592095 c.5768_5771dupATGC p.Ser1925CysfsTer20 frameshift 0.00005804
598. 38592176 c.5687_5688delTC p.Leu1896ProfsTer47 frameshift 0.00001656
599. 38627262 c.2707delA p.Met903CysfsTer29 frameshift 0.00000826
600. 38629048 c.2279delT p.Phe760SerfsTer5 frameshift 0.00000829
601. 38645523 c.1570_1571insTCTGCCCAGTTCTAGTCTGAAAACAAAGCACAGGGTTGGGCACACTGTGGGTGCCTAATCAACAAGG p.Ser524PhefsTer7 frameshift 0.00001184
602. 38648230 c.1070_1074dupCCTTT p.Ala359ProfsTer12 frameshift 0.00000831
603. 38647495 c.1285_1287delGAG p.Glu429del inframe 0.00000831
604. 38593013 c.4850_4852delTCT inframe 0.00000827
605. 38592795 c.5068_5070delGAC p.Asp1690del inframe 0.00000824
606. 38622436 c.3214_3216delGAG p.Glu1072del inframe 0.00000888
607. 38622460 c.3190_3192delGAG p.Glu1064del inframe 0.00001699
608. 38622651 c.2999_3001delAGC p.Gln1000del inframe 0.00002806
609. 38651291 c.868_876delACCAACGGC p.Thr290_Gly292del inframe 0.00000830

* 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.