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