SCN5A protein-altering variants in ExAC

SCN5A gene summary
SCN5A variants in

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 frequency▼Populations*
1. 38674795 c.4G>A p.A2T missense 0.00002537●●●●●●
2. 38674791 c.8A>G p.N3S missense 0.00000845●●●●●●
3. 38674790 c.9C>G p.N3K missense 0.00000844●●●●●●
4. 38674779 c.20C>G p.P7R missense 0.00000843●●●●●●
5. 38674776 c.23G>C p.R8P missense 0.00000842●●●●●●
6. 38674776 c.23G>A p.R8Q missense 0.00005051●●●●●●
7. 38674774 c.25G>A p.G9S missense 0.00002524●●●●●●
8. 38674770 c.29C>G p.T10S missense 0.00000841●●●●●●
9. 38674759 c.40C>A p.R14S missense 0.00000838●●●●●●
10. 38674756 c.43A>G p.R15G missense 0.00001675●●●●●●
11. 38674755 c.44G>C p.R15T missense 0.00004187●●●●●●
12. 38674751 c.48C>G p.F16L missense 0.00000837●●●●●●
13. 38674746 c.53G>A p.R18Q missense 0.00002506●●●●●●
14. 38674740 c.59C>T p.S20F missense 0.00000835●●●●●●
15. 38674734 c.65C>T p.A22V missense 0.00000833●●●●●●
16. 38674732 c.67G>T p.A23S missense 0.00000833●●●●●●
17. 38674726 c.73G>A p.E25K missense 0.00000833●●●●●●
18. 38674725 c.74A>G p.E25G missense 0.00000833●●●●●●
19. 38674720 c.79C>T p.R27C missense 0.00002497●●●●●●
20. 38674719 c.80G>T p.R27L missense 0.00001665●●●●●●
21. 38674717 c.82A>T p.M28L missense 0.00001664●●●●●●
22. 38674716 c.83T>C p.M28T missense 0.00000832●●●●●●
23. 38674713 c.86C>T p.A29V missense 0.00007486●●●●●●
24. 38674698 c.101G>A p.R34H missense 0.00002519●●●●●●
25. 38674690 c.109A>G p.T37A missense 0.00001686●●●●●●
26. 38674671 c.128G>A p.R43Q missense 0.00003401●●●●●●
27. 38674657 c.142G>A p.E48K missense 0.00002557●●●●●●
28. 38674654 c.145G>A p.E49K missense 0.00000851●●●●●●
29. 38674647 c.152C>T p.A51V missense 0.00000849●●●●●●
30. 38674644 c.155C>A p.P52H missense 0.00000849●●●●●●
31. 38674641 c.158G>A p.R53Q missense 0.00000850●●●●●●
32. 38674614 c.185A>C p.K62T missense 0.00000842●●●●●●
33. 38674605 c.194C>T p.P65L missense 0.00000841●●●●●●
34. 38674593 c.206G>A p.G69D missense 0.00002533●●●●●●
35. 38674590 c.209A>G p.N70S missense 0.00003383●●●●●●
36. 38674589 c.210T>G p.N70K missense 0.00002538●●●●●●
37. 38674564 c.235C>T p.P79S missense 0.00000878●●●●●●
38. 38674564 c.235C>G p.P79A missense 0.00000878●●●●●●
39. 38674563 c.236C>A p.P79H missense 0.00000879●●●●●●
40. 38674553 c.246C>A p.D82E missense 0.00002678●●●●●●
41. 38674553 c.246C>G p.D82E missense 0.00000893●●●●●●
42. 38674546 c.253C>A p.P85T missense 0.00000900●●●●●●
43. 38674546 c.253C>T p.P85S missense 0.00000900●●●●●●
44. 38674543 c.256T>C p.F86L missense 0.00000901●●●●●●
45. 38674537 c.262A>G p.S88G missense 0.00000904●●●●●●
46. 38671919 c.275C>T p.T92I missense 0.00005798●●●●●●
47. 38671914 c.280A>G p.I94V missense 0.00001656●●●●●●
48. 38671911 c.283G>A p.V95I missense 0.00003313●●●●●●
49. 38671911 c.283G>C p.V95L missense 0.00000828●●●●●●
50. 38671892 c.302C>T p.T101I missense 0.00000828●●●●●●
51. 38671884 c.310C>T p.R104W missense 0.00000828●●●●●●
52. 38671877 c.317G>C p.S106T missense 0.00000828●●●●●●
53. 38671867 c.327C>A p.N109K missense 0.00000828●●●●●●
54. 38671866 c.328G>A p.A110T missense 0.00001656●●●●●●
55. 38671859 c.335A>G p.Y112C missense 0.00000828●●●●●●
56. 38671839 c.355C>T p.P119S missense 0.00001656●●●●●●
57. 38671838 c.356C>T p.P119L missense 0.00000828●●●●●●
58. 38671826 c.368C>T p.A123V missense 0.00004141●●●●●●
59. 38671820 c.374T>G p.V125G missense 0.00000828●●●●●●
60. 38663981 c.393-1C>T essential splice site 0.00001262●●●●●●
61. 38663970 c.403A>G p.M135V missense 0.00001169●●●●●●
62. 38663964 c.409A>G p.I137V missense 0.00002291●●●●●●
63. 38663959 c.414G>A p.M138I missense 0.00001130●●●●●●
64. 38663946 c.427A>G p.T143A missense 0.00001077●●●●●●
65. 38663919 c.454G>A p.D152N missense 0.00002166●●●●●●
66. 38663897 c.476A>G p.Y159C missense 0.00001260●●●●●●
67. 38663892 c.481G>A p.E161K missense 0.00002693●●●●●●
68. 38662461 c.484T>C p.Y162H missense 0.00000846●●●●●●
69. 38662460 c.485A>G p.Y162C missense 0.00000846●●●●●●
70. 38662437 c.508T>A p.F170I missense 0.00000849●●●●●●
71. 38662425 c.520G>A p.V174I missense 0.00000860●●●●●●
72. 38662409 c.536G>A p.R179Q missense 0.00002722●●●●●●
73. 38662391 c.554C>T p.A185V missense 0.00004341●●●●●●
74. 38662385 c.560C>G p.T187S missense 0.00002363●●●●●●
75. 38662377 c.568C>T p.R190W missense 0.00001365●●●●●●
76. 38662376 c.569G>T p.R190L missense 0.00004241●●●●●●
77. 38655327 c.612-2A>G essential splice site 0.00001451●●●●●●
78. 38655282 c.655C>T p.R219C missense 0.00003863●●●●●●
79. 38655264 c.673C>T p.R225W missense 0.00001425●●●●●●
80. 38655263 c.674G>A p.R225Q missense 0.00002900●●●●●●
81. 38655257 c.680T>C p.L227P missense 0.00001571●●●●●●
82. 38655249 c.688A>G p.I230V missense 0.00001763●●●●●●
83. 38655234 c.703G>A p.G235R missense 0.00002301●●●●●●
84. 38651426 c.733C>A p.Q245K missense 0.00000828●●●●●●
85. 38651420 c.739G>C p.V247L missense 0.00005799●●●●●●
86. 38651375 c.784A>G p.S262G missense 0.00000828●●●●●●
87. 38651372 c.787G>A p.V263I missense 0.00001657●●●●●●
88. 38651365 c.794C>T p.A265V missense 0.00000828●●●●●●
89. 38651362 c.797T>A p.L266H missense 0.00000828●●●●●●
90. 38651357 c.802G>A p.G268S missense 0.00000828●●●●●●
91. 38651318 c.841G>A p.V281M missense 0.00000829●●●●●●
92. 38651314 c.845G>A p.R282H missense 0.00001657●●●●●●
93. 38651305 c.854C>A p.T285K missense 0.00000829●●●●●●
94. 38651302 c.857C>T p.A286V missense 0.00000829●●●●●●
95. 38651296 c.863A>G p.N288S missense 0.00000829●●●●●●
96. 38651294 c.865G>A p.G289S missense 0.00002488●●●●●●
97. 38651291 c.868_876delACCAACGGC p.Thr290_Gly292del inframe 0.00000830●●●●●●
98. 38651285 c.874G>A p.G292S missense 0.00001659●●●●●●
99. 38651279 c.880G>A p.V294M missense 0.00003320●●●●●●
100. 38651276 c.883G>A p.E295K missense 0.00000830●●●●●●
101. 38651267 c.892G>A p.G298S missense 0.00003326●●●●●●
102. 38651266 c.893G>A p.G298D missense 0.00000832●●●●●●
103. 38651262 c.897G>C p.L299F missense 0.00001665●●●●●●
104. 38651261 c.898G>A p.V300I missense 0.00000833●●●●●●
105. 38651246 c.913G>A p.D305N missense 0.00001678●●●●●●
106. 38651243 c.916C>G p.L306V missense 0.00000841●●●●●●
107. 38651243 c.916C>T p.L306F missense 0.00000841●●●●●●
108. 38649691 c.949A>G p.K317E missense 0.00000828●●●●●●
109. 38649685 c.955G>A p.G319S missense 0.00005797●●●●●●
110. 38649681 c.959C>A p.T320N missense 0.00001656●●●●●●
111. 38649651 c.989C>T p.S330F missense 0.00000828●●●●●●
112. 38649646 c.994G>A p.A332T missense 0.00000828●●●●●●
113. 38648282 c.1018C>T p.R340W missense 0.00000839●●●●●●
114. 38648281 c.1019G>A p.R340Q missense 0.00009233●●●●●●
115. 38648264 c.1036G>A p.E346K missense 0.00002496●●●●●●
116. 38648263 c.1037A>G p.E346G missense 0.00000832●●●●●●
117. 38648258 c.1042C>G p.P348A missense 0.00000831●●●●●●
118. 38648255 c.1045G>A p.D349N missense 0.00001661●●●●●●
119. 38648249 c.1051G>A p.G351S missense 0.00000830●●●●●●
120. 38648230 c.1070_1074dupCCTTT p.Ala359ProfsTer12 frameshift 0.00000831●●●●●●
121. 38648201 c.1099C>T p.R367C missense 0.00000841●●●●●●
122. 38647630 c.1150T>A p.S384T missense 0.00000832●●●●●●
123. 38647627 c.1153G>A p.A385T missense 0.00000832●●●●●●
124. 38647617 c.1163T>G p.I388S missense 0.00000831●●●●●●
125. 38647574 c.1206C>G p.F402L missense 0.00000829●●●●●●
126. 38647570 c.1210C>G p.L404V missense 0.00000828●●●●●●
127. 38647551 c.1229C>T p.A410V missense 0.00000828●●●●●●
128. 38647543 c.1237G>A p.A413T missense 0.00001657●●●●●●
129. 38647537 c.1243G>A p.A415T missense 0.00000828●●●●●●
130. 38647533 c.1247A>G p.Y416C missense 0.00000828●●●●●●
131. 38647508 c.1272C>G p.I424M missense 0.00004973●●●●●●
132. 38647507 c.1273G>C p.A425P missense 0.00000829●●●●●●
133. 38647498 c.1282G>A p.E428K missense 0.00004978●●●●●●
134. 38647495 c.1285_1287delGAG p.Glu429del inframe 0.00000831●●●●●●
135. 38647483 c.1297C>T p.R433C missense 0.00001668●●●●●●
136. 38647483 c.1297C>A p.R433S missense 0.00000834●●●●●●
137. 38647470 c.1310C>T p.A437V missense 0.00000848●●●●●●
138. 38647459 c.1321C>T p.L441F missense 0.00000862●●●●●●
139. 38647447 c.1333C>G p.H445D missense 0.00005257●●●●●●
140. 38647445 c.1335C>A p.H445Q missense 0.00000879●●●●●●
141. 38646398 c.1340C>G p.A447G missense 0.00007533●●●●●●
142. 38646393 c.1345A>G p.T449A missense 0.00002085●●●●●●
143. 38646372 c.1366G>A p.V456M missense 0.00001889●●●●●●
144. 38646354 c.1384G>A p.E462K missense 0.00006254●●●●●●
145. 38646350 c.1388T>C p.M463T missense 0.00000885●●●●●●
146. 38646350 c.1388T>G p.M463R missense 0.00000885●●●●●●
147. 38646340 c.1398G>T p.L466F missense 0.00003481●●●●●●
148. 38646335 c.1403C>T p.P468L missense 0.00000867●●●●●●
149. 38646317 c.1421G>A p.R474K missense 0.00001697●●●●●●
150. 38646314 c.1424G>A p.R475K missense 0.00000846●●●●●●
151. 38646313 c.1425A>C p.R475S missense 0.00002536●●●●●●
152. 38646298 c.1440A>C p.K480N missense 0.00000838●●●●●●
153. 38646296 c.1442G>A p.R481Q missense 0.00000837●●●●●●
154. 38646282 c.1456A>G p.T486A missense 0.00000833●●●●●●
155. 38646269 c.1469G>A p.G490E missense 0.00000832●●●●●●
156. 38646227 c.1511G>C p.R504T missense 0.00000842●●●●●●
157. 38646224 c.1514C>A p.A505E missense 0.00001689●●●●●●
158. 38646221 c.1517T>A p.M506K missense 0.00000847●●●●●●
159. 38646220 c.1518G>A p.M506I missense 0.00000849●●●●●●
160. 38645558 c.1535C>T p.T512I missense 0.00001490●●●●●●
161. 38645556 c.1537C>T p.R513C missense 0.00004433●●●●●●
162. 38645542 c.1551G>C p.R517S missense 0.00001341●●●●●●
163. 38645535 c.1558A>G p.M520V missense 0.00006381●●●●●●
164. 38645525 c.1568G>A p.R523H missense 0.00001208●●●●●●
165. 38645523 c.1570_1571insTCTGCCCAGTTCTAGTCTGAAAACAAAGCACAGGGTTGGGCACACTGTGGGTGCCTAATCAACAAGG p.Ser524PhefsTer7 frameshift 0.00001184●●●●●●
166. 38645517 c.1576C>T p.R526C missense 0.00009145●●●●●●
167. 38645516 c.1577G>A p.R526H missense 0.00006845●●●●●●
168. 38645514 c.1579G>A p.G527R missense 0.00004435●●●●●●
169. 38645509 c.1584C>A p.S528R missense 0.00002158●●●●●●
170. 38645505 c.1588T>G p.F530V missense 0.00002029●●●●●●
171. 38645504 c.1589T>C p.F530S missense 0.00001000●●●●●●
172. 38645502 c.1591A>G p.T531A missense 0.00001965●●●●●●
173. 38645501 c.1592C>T p.T531I missense 0.00000973●●●●●●
174. 38645499 c.1594T>C p.F532L missense 0.00000960●●●●●●
175. 38645498 c.1595T>G p.F532C missense 0.00001904●●●●●●
176. 38645496 c.1597C>T p.R533C missense 0.00000949●●●●●●
177. 38645496 c.1597C>A p.R533S missense 0.00002846●●●●●●
178. 38645489 c.1604G>A p.R535Q missense 0.00001834●●●●●●
179. 38645480 c.1613G>A p.G538D missense 0.00000880●●●●●●
180. 38645441 c.1652C>T p.A551V missense 0.00004171●●●●●●
181. 38645439 c.1654G>C p.G552R missense 0.00001667●●●●●●
182. 38645439 c.1654G>T p.G552W missense 0.00001667●●●●●●
183. 38645430 c.1663G>A p.E555K missense 0.00004995●●●●●●
184. 38645424 c.1669C>T p.H557Y missense 0.00001661●●●●●●
185. 38645417 c.1676C>T p.T559I missense 0.00000830●●●●●●
186. 38645417 c.1676C>G p.T559R missense 0.00000830●●●●●●
187. 38645393 c.1700T>A p.L567Q missense 0.00000829●●●●●●
188. 38645391 c.1702C>T p.R568C missense 0.00005806●●●●●●
189. 38645390 c.1703G>A p.R568H missense 0.00002488●●●●●●
190. 38645388 c.1705C>T p.R569W missense 0.00000829●●●●●●
191. 38645387 c.1706G>A p.R569Q missense 0.00001659●●●●●●
192. 38645384 c.1709C>A p.T570N missense 0.00000829●●●●●●
193. 38645381 c.1712G>T p.S571I missense 0.00001658●●●●●●
194. 38645376 c.1717C>G p.Q573E missense 0.00000829●●●●●●
195. 38645351 c.1742C>T p.S581L missense 0.00001661●●●●●●
196. 38645343 c.1750G>C p.G584R missense 0.00002495●●●●●●
197. 38645336 c.1757C>G p.A586G missense 0.00000835●●●●●●
198. 38645331 c.1762C>A p.H588N missense 0.00000836●●●●●●
199. 38645317 c.1776C>G p.N592K missense 0.00005089●●●●●●
200. 38645298 c.1795G>A p.G599R missense 0.00000880●●●●●●
201. 38645273 c.1820G>T p.G607V missense 0.00006371●●●●●●
202. 38645273 c.1820G>A p.G607D missense 0.00000910●●●●●●
203. 38645271 c.1822G>C p.D608H missense 0.00000913●●●●●●
204. 38645271 c.1822G>A p.D608N missense 0.00000913●●●●●●
205. 38645265 c.1828G>A p.E610K missense 0.00000915●●●●●●
206. 38645246 c.1847G>A p.S616N missense 0.00000921●●●●●●
207. 38645238 c.1855C>T p.L619F missense 0.00003699●●●●●●
208. 38645235 c.1858C>T p.R620C missense 0.00000927●●●●●●
209. 38645234 c.1859G>A p.R620H missense 0.00002784●●●●●●
210. 38645225 c.1868T>C p.M623T missense 0.00000931●●●●●●
211. 38645218 c.1875G>C p.E625D missense 0.00003739●●●●●●
212. 38645213 c.1880C>T p.P627L missense 0.00000938●●●●●●
213. 38645204 c.1889C>T p.T630M missense 0.00005657●●●●●●
214. 38640537 c.1895C>T p.T632M missense 0.00000902●●●●●●
215. 38640531 c.1901C>T p.S634L missense 0.00004418●●●●●●
216. 38640531 c.1901C>G p.S634W missense 0.00000884●●●●●●
217. 38640526 c.1906G>A p.E636K missense 0.00000876●●●●●●
218. 38640514 c.1918C>T p.P640S missense 0.00000857●●●●●●
219. 38640493 c.1939G>T p.A647S missense 0.00001686●●●●●●
220. 38640492 c.1940C>T p.A647V missense 0.00000842●●●●●●
221. 38640489 c.1943C>T p.P648L missense 0.00003367●●●●●●
222. 38640487 c.1945T>C p.C649R missense 0.00000840●●●●●●
223. 38640477 c.1955G>A p.G652D missense 0.00000836●●●●●●
224. 38640472 c.1960G>A p.E654K missense 0.00004178●●●●●●
225. 38640459 c.1973C>T p.A658V missense 0.00000834●●●●●●
226. 38640457 c.1975C>T p.R659W missense 0.00003334●●●●●●
227. 38640456 c.1976G>A p.R659Q missense 0.00000834●●●●●●
228. 38640451 c.1981C>T p.R661W missense 0.00002500●●●●●●
229. 38640448 c.1984G>T p.A662S missense 0.00002499●●●●●●
230. 38640439 c.1993G>T p.A665S missense 0.00001665●●●●●●
231. 38640439 c.1993G>A p.A665T missense 0.00004162●●●●●●
232. 38640430 c.2002G>A p.V668I missense 0.00001665●●●●●●
233. 38640421 c.2011A>T p.S671C missense 0.00000832●●●●●●
234. 38639452 c.2030A>T p.E677V missense 0.00000851●●●●●●
235. 38639444 c.2038C>T p.R680C missense 0.00001693●●●●●●
236. 38639417 c.2065C>T p.R689C missense 0.00001664●●●●●●
237. 38639411 c.2071G>A p.A691T missense 0.00004985●●●●●●
238. 38639411 c.2071G>T p.A691S missense 0.00000831●●●●●●
239. 38639405 c.2077C>T p.R693C missense 0.00004976●●●●●●
240. 38639404 c.2078G>A p.R693H missense 0.00001658●●●●●●
241. 38639368 c.2114C>T p.S705F missense 0.00006624●●●●●●
242. 38639341 c.2141T>C p.V714A missense 0.00005795●●●●●●
243. 38639332 c.2150C>T p.P717L missense 0.00000828●●●●●●
244. 38639328 c.2154T>G p.F718L missense 0.00000828●●●●●●
245. 38639311 c.2171C>T p.T724I missense 0.00000828●●●●●●
246. 38639292 c.2190C>A p.N730K missense 0.00000828●●●●●●
247. 38639283 c.2199C>G p.F733L missense 0.00001656●●●●●●
248. 38639278 c.2204C>T p.A735V missense 0.00000828●●●●●●
249. 38639258 c.2224A>G p.T742A missense 0.00000829●●●●●●
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311. 38622660 c.2990C>A p.A997D missense 0.00001915●●●●●●
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313. 38622651 c.2999_3001delAGC p.Gln1000del inframe 0.00002806●●●●●●
314. 38622646 c.3004C>T p.P1002S missense 0.00001863●●●●●●
315. 38622636 c.3014T>C p.I1005T missense 0.00000911●●●●●●
316. 38622630 c.3020C>T p.T1007I missense 0.00000902●●●●●●
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318. 38622619 c.3031C>T p.P1011S missense 0.00002676●●●●●●
319. 38622618 c.3032C>T p.P1011L missense 0.00003570●●●●●●
320. 38622607 c.3043G>A p.E1015K missense 0.00000874●●●●●●
321. 38622603 c.3047C>T p.T1016M missense 0.00009559●●●●●●
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323. 38622583 c.3067C>T p.R1023C missense 0.00002549●●●●●●
324. 38622582 c.3068G>C p.R1023P missense 0.00000849●●●●●●
325. 38622570 c.3080G>A p.R1027Q missense 0.00005059●●●●●●
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327. 38622554 c.3096G>T p.E1032D missense 0.00000839●●●●●●
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329. 38622540 c.3110G>T p.G1037V missense 0.00000836●●●●●●
330. 38622532 c.3118G>A p.G1040R missense 0.00005015●●●●●●
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332. 38622529 c.3121G>A p.D1041N missense 0.00007514●●●●●●
333. 38622528 c.3122A>G p.D1041G missense 0.00000835●●●●●●
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335. 38622498 c.3152T>C p.V1051A missense 0.00000832●●●●●●
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337. 38622467 c.3183A>C p.E1061D missense 0.00001659●●●●●●
338. 38622466 c.3184G>C p.D1062H missense 0.00000843●●●●●●
339. 38622462 c.3188A>G p.E1063G missense 0.00000846●●●●●●
340. 38622460 c.3190_3192delGAG p.Glu1064del inframe 0.00001699●●●●●●
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342. 38622447 c.3203G>A p.G1068D missense 0.00000865●●●●●●
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344. 38622436 c.3214_3216delGAG p.Glu1072del inframe 0.00000888●●●●●●
345. 38620986 c.3229C>A p.Q1077K missense 0.00000929●●●●●●
346. 38620980 c.3235T>A p.S1079T missense 0.00000927●●●●●●
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350. 38620952 c.3263C>T p.A1088V missense 0.00000902●●●●●●
351. 38620943 c.3272A>C p.D1091A missense 0.00000903●●●●●●
352. 38620930 c.3285G>T p.W1095C missense 0.00001821●●●●●●
353. 38620917 c.3298G>A p.A1100T missense 0.00000937●●●●●●
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355. 38620907 c.3308C>T p.S1103F missense 0.00001961●●●●●●
356. 38620901 c.3314A>T p.E1105V missense 0.00001022●●●●●●
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358. 38620877 c.3338C>T p.A1113V missense 0.00001343●●●●●●
359. 38620875 c.3340G>A p.D1114N missense 0.00001402●●●●●●
360. 38620872 c.3343T>C p.W1115R missense 0.00001456●●●●●●
361. 38620869 c.3346C>T p.R1116W missense 0.00001554●●●●●●
362. 38620841 c.3374C>G p.A1125G missense 0.00007867●●●●●●
363. 38620827 c.3388G>A p.E1130K missense 0.00003718●●●●●●
364. 38618272 c.3391A>T p.T1131S missense 0.00002228●●●●●●
365. 38618271 c.3392C>T p.T1131I missense 0.00004455●●●●●●
366. 38618269 c.3394C>T p.P1132S missense 0.00001114●●●●●●
367. 38618263 c.3400G>A p.D1134N missense 0.00001114●●●●●●
368. 38618259 c.3404G>T p.S1135I missense 0.00004450●●●●●●
369. 38618251 c.3412G>A p.E1138K missense 0.00001118●●●●●●
370. 38618223 c.3440C>A p.T1147N missense 0.00006652●●●●●●
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372. 38618221 c.3442G>T p.A1148S missense 0.00001116●●●●●●
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374. 38618204 c.3459G>C p.Q1153H missense 0.00005455●●●●●●
375. 38618200 c.3463C>T p.P1155S missense 0.00002171●●●●●●
376. 38618196 c.3467A>G p.D1156G missense 0.00004324●●●●●●
377. 38618170 c.3493G>C p.E1165Q missense 0.00001053●●●●●●
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382. 38616930 c.3524G>A p.R1175H missense 0.00005767●●●●●●
383. 38616912 c.3542T>C p.V1181A missense 0.00003900●●●●●●
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387. 38616851 c.3603C>G p.I1201M missense 0.00001050●●●●●●
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495. 38592709 c.5154C>A p.S1718R missense 0.00000825●●●●●●
496. 38592678 c.5185G>A p.D1729N missense 0.00000826●●●●●●
497. 38592675 c.5188C>G p.P1730A missense 0.00000826●●●●●●
498. 38592674 c.5189C>T p.P1730L missense 0.00001652●●●●●●
499. 38592653 c.5210G>A p.G1737D missense 0.00001653●●●●●●
500. 38592651 c.5212T>A p.S1738T missense 0.00000826●●●●●●
501. 38592648 c.5215C>T p.R1739W missense 0.00003306●●●●●●
502. 38592647 c.5216G>A p.R1739Q missense 0.00000826●●●●●●
503. 38592642 c.5221G>A p.D1741N missense 0.00002479●●●●●●
504. 38592626 c.5237C>T p.A1746V missense 0.00004950●●●●●●
505. 38592624 c.5239G>A p.V1747M missense 0.00001650●●●●●●
506. 38592587 c.5276C>G p.S1759C missense 0.00000824●●●●●●
507. 38592566 c.5297T>C p.M1766T missense 0.00003299●●●●●●
508. 38592551 c.5312T>C p.I1771T missense 0.00000825●●●●●●
509. 38592534 c.5329G>A p.V1777M missense 0.00002478●●●●●●
510. 38592527 c.5336C>T p.T1779M missense 0.00003305●●●●●●
511. 38592495 c.5368G>A p.D1790N missense 0.00001654●●●●●●
512. 38592489 c.5374G>A p.D1792N missense 0.00002482●●●●●●
513. 38592488 c.5375A>T p.D1792V missense 0.00000827●●●●●●
514. 38592474 c.5389A>G p.I1797V missense 0.00000828●●●●●●
515. 38592436 c.5427T>G p.I1809M missense 0.00000828●●●●●●
516. 38592428 c.5435C>T p.S1812L missense 0.00002484●●●●●●
517. 38592415 c.5448C>G p.D1816E missense 0.00000828●●●●●●
518. 38592405 c.5458G>A p.A1820T missense 0.00001656●●●●●●
519. 38592396 c.5467G>A p.E1823K missense 0.00000828●●●●●●
520. 38592387 c.5476C>T p.R1826C missense 0.00002484●●●●●●
521. 38592386 c.5477G>A p.R1826H missense 0.00003312●●●●●●
522. 38592381 c.5482G>A p.A1828T missense 0.00002484●●●●●●
523. 38592369 c.5494C>G p.Q1832E missense 0.00007452●●●●●●
524. 38592339 c.5524A>T p.M1842L missense 0.00000828●●●●●●
525. 38592339 c.5524A>G p.M1842V missense 0.00000828●●●●●●
526. 38592338 c.5525T>C p.M1842T missense 0.00000828●●●●●●
527. 38592324 c.5539C>T p.R1847C missense 0.00000828●●●●●●
528. 38592308 c.5555A>T p.D1852V missense 0.00000828●●●●●●
529. 38592246 c.5617A>G p.I1873V missense 0.00000828●●●●●●
530. 38592239 c.5624T>A p.M1875K missense 0.00000828●●●●●●
531. 38592212 c.5651C>T p.P1884L missense 0.00008280●●●●●●
532. 38592195 c.5668G>A p.E1890K missense 0.00002484●●●●●●
533. 38592179 c.5684C>T p.T1895I missense 0.00000828●●●●●●
534. 38592176 c.5687T>C p.L1896P missense 0.00001656●●●●●●
535. 38592176 c.5687_5688delTC p.Leu1896ProfsTer47 frameshift 0.00001656●●●●●●
536. 38592174 c.5689C>T p.R1897W missense 0.00009936●●●●●●
537. 38592173 c.5690G>A p.R1897Q missense 0.00001656●●●●●●
538. 38592171 c.5692C>T p.R1898C missense 0.00002484●●●●●●
539. 38592170 c.5693G>A p.R1898H missense 0.00006624●●●●●●
540. 38592162 c.5701G>A p.E1901K missense 0.00004140●●●●●●
541. 38592162 c.5701G>C p.E1901Q missense 0.00002484●●●●●●
542. 38592146 c.5717T>C p.M1906T missense 0.00001656●●●●●●
543. 38592141 c.5722A>G p.I1908V missense 0.00000828●●●●●●
544. 38592125 c.5738G>A p.R1913H missense 0.00003312●●●●●●
545. 38592123 c.5740A>G p.R1914G missense 0.00000828●●●●●●
546. 38592120 c.5743C>T p.H1915Y missense 0.00000828●●●●●●
547. 38592120 c.5743C>A p.H1915N missense 0.00000828●●●●●●
548. 38592113 c.5750T>C p.L1917P missense 0.00000828●●●●●●
549. 38592108 c.5755C>T p.R1919C missense 0.00002485●●●●●●
550. 38592107 c.5756G>A p.R1919H missense 0.00000828●●●●●●
551. 38592104 c.5759C>G p.S1920C missense 0.00000828●●●●●●
552. 38592096 c.5767C>T p.H1923Y missense 0.00000829●●●●●●
553. 38592095 c.5768_5771dupATGC p.Ser1925CysfsTer20 frameshift 0.00005804●●●●●●
554. 38592093 c.5770G>A p.A1924T missense 0.00004144●●●●●●
555. 38592078 c.5785C>T p.R1929C missense 0.00001661●●●●●●
556. 38592077 c.5786G>A p.R1929H missense 0.00002492●●●●●●
557. 38592068 c.5795C>T p.A1932V missense 0.00006666●●●●●●
558. 38592065 c.5798G>A p.G1933D missense 0.00000834●●●●●●
559. 38592065 c.5798G>C p.G1933A missense 0.00000834●●●●●●
560. 38592065 c.5798G>T p.G1933V missense 0.00000834●●●●●●
561. 38592060 c.5803G>A p.G1935S missense 0.00001673●●●●●●
562. 38592054 c.5809T>G p.S1937A missense 0.00000838●●●●●●
563. 38592051 c.5812G>A p.E1938K missense 0.00000840●●●●●●
564. 38592051 c.5812G>T p.E1938X nonsense 0.00000840●●●●●●
565. 38592039 c.5824C>T p.P1942S missense 0.00000843●●●●●●
566. 38592032 c.5831G>A p.R1944Q missense 0.00001694●●●●●●
567. 38592021 c.5842A>G p.I1948V missense 0.00000853●●●●●●
568. 38592018 c.5845G>A p.A1949T missense 0.00001716●●●●●●
569. 38592012 c.5851G>A p.V1951M missense 0.00008632●●●●●●
570. 38592004 c.5859_5862delTGAG p.Ser1953ArgfsTer84 frameshift 0.00000872●●●●●●
571. 38592003 c.5860G>A p.E1954K missense 0.00003480●●●●●●
572. 38591994 c.5869T>C p.S1957P missense 0.00000875●●●●●●
573. 38591991 c.5872C>T p.R1958X nonsense 0.00007039●●●●●●
574. 38591990 c.5873G>A p.R1958Q missense 0.00006181●●●●●●
575. 38591975 c.5888C>T p.P1963L missense 0.00000882●●●●●●
576. 38591972 c.5891C>T p.S1964F missense 0.00003525●●●●●●
577. 38591970 c.5893A>G p.S1965G missense 0.00000883●●●●●●
578. 38591961 c.5902A>G p.I1968V missense 0.00000885●●●●●●
579. 38591960 c.5903T>G p.I1968S missense 0.00002652●●●●●●
580. 38591960 c.5903T>A p.I1968N missense 0.00000884●●●●●●
581. 38591959 c.5904C>G p.I1968M missense 0.00002650●●●●●●
582. 38591957 c.5906C>T p.S1969F missense 0.00000884●●●●●●
583. 38591946 c.5917T>C p.F1973L missense 0.00001774●●●●●●
584. 38591925 c.5938G>T p.V1980F missense 0.00002687●●●●●●
585. 38591918 c.5945G>C p.R1982T missense 0.00000898●●●●●●
586. 38591915 c.5948C>T p.A1983V missense 0.00000899●●●●●●
587. 38591912 c.5951C>T p.T1984I missense 0.00003603●●●●●●
588. 38591907 c.5956G>A p.D1986N missense 0.00000904●●●●●●
589. 38591902 c.5961C>A p.N1987K missense 0.00000905●●●●●●
590. 38591895 c.5968G>C p.V1990L missense 0.00000907●●●●●●
591. 38591895 c.5968G>A p.V1990M missense 0.00000907●●●●●●
592. 38591892 c.5971C>T p.R1991W missense 0.00002724●●●●●●
593. 38591888 c.5975G>C p.G1992A missense 0.00000909●●●●●●
594. 38591873 c.5990A>G p.H1997R missense 0.00000912●●●●●●
595. 38591865 c.5998G>T p.D2000Y missense 0.00001827●●●●●●
596. 38591859 c.6004G>T p.A2002S missense 0.00000916●●●●●●
597. 38591856 c.6007G>A p.D2003N missense 0.00003667●●●●●●
598. 38591853 c.6010T>G p.F2004V missense 0.00002751●●●●●●
599. 38591853 c.6010T>A p.F2004I missense 0.00001834●●●●●●
600. 38591851 c.6012C>G p.F2004L missense 0.00000918●●●●●●
601. 38591850 c.6013C>T p.P2005S missense 0.00000918●●●●●●
602. 38591849 c.6014C>T p.P2005L missense 0.00000918●●●●●●
603. 38591840 c.6023C>T p.P2008L missense 0.00001841●●●●●●
604. 38591836 c.6027C>G p.D2009E missense 0.00000921●●●●●●
605. 38591835 c.6028A>G p.R2010G missense 0.00002763●●●●●●
606. 38591829 c.6034C>T p.R2012C missense 0.00001844●●●●●●
607. 38591828 c.6035G>A p.R2012H missense 0.00004612●●●●●●
608. 38591817 c.6046G>A p.V2016M missense 0.00003697●●●●●●
609. 38591813 c.6050G>A nonsense 0.00001850●●●●●●

* 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.