SCN5A variants in ExAC

SCN5A gene summary
SCN5A variants in

The table below lists the SCN5A variants found in the ExAC population database. Click on each variant for more details, including presence in the 1000 Genomes and Exome Sequencing Project databases, a breakdown by ethnic class and the variant's role in inherited cardiac disease. Use the form below to customise the variant selection. The table can be sorted by variant location, variant type or ExAC frequency.




No. Genomic coord.✝ Variant (CDS)▼ Variant (Protein) Variant Type▼ ExAC frequency▼Populations*
1. 38674795 c.4G>A p.A2T missense 0.00002537●●●●●●
2. 38674746 c.53G>A p.R18Q missense 0.00002506●●●●●●
3. 38674747 c.52C>T p.R18W missense 0.00032601●●●●●●
4. 38674719 c.80G>A p.R27H missense 0.00023303●●●●●●
5. 38674699 c.100C>T p.R34C missense 0.00946245●●●●●●
6. 38674698 c.101G>A p.R34H missense 0.00002519●●●●●●
7. 38674696 c.103G>A p.G35S missense 0.00014304●●●●●●
8. 38674671 c.128G>A p.R43Q missense 0.00003401●●●●●●
9. 38674657 c.142G>A p.E48K missense 0.00002557●●●●●●
10. 38674641 c.158G>A p.R53Q missense 0.00000850●●●●●●
11. 38674589 c.210T>G p.N70K missense 0.00002538●●●●●●
12. 38671911 c.283G>A p.V95I missense 0.00003313●●●●●●
13. 38671884 c.310C>T p.R104W missense 0.00000828●●●●●●
14. 38671867 c.327C>A p.N109K missense 0.00000828●●●●●●
15. 38671820 c.374T>G p.V125G missense 0.00000828●●●●●●
16. 38671821 c.373G>C p.V125L missense 0.00025676●●●●●●
17. 38663959 c.414G>A p.M138I missense 0.00001130●●●●●●
18. 38663937 c.436G>A p.V146M missense 0.00019118●●●●●●
19. 38663892 c.481G>A p.E161K missense 0.00002693●●●●●●
20. 38662392 c.553G>A p.A185T missense 0.00038490●●●●●●
21. 38662391 c.554C>T p.A185V missense 0.00004341●●●●●●
22. 38662377 c.568C>G p.R190G missense 0.00054606●●●●●●
23. 38662376 c.569G>A p.R190Q missense 0.00011308●●●●●●
24. 38655290 c.647C>T p.S216L missense 0.00100046●●●●●●
25. 38655278 c.659C>T p.T220I missense 0.00101159●●●●●●
26. 38655263 c.674G>A p.R225Q missense 0.00002900●●●●●●
27. 38655264 c.673C>T p.R225W missense 0.00001425●●●●●●
28. 38655260 c.677C>T p.A226V missense 0.00013493●●●●●●
29. 38655249 c.688A>G p.I230V missense 0.00001763●●●●●●
30. 38655243 c.694G>A p.V232I missense 0.00031192●●●●●●
31. 38651426 c.733C>A p.Q245K missense 0.00000828●●●●●●
32. 38651420 c.739G>C p.V247L missense 0.00005799●●●●●●
33. 38651314 c.845G>A p.R282H missense 0.00001657●●●●●●
34. 38651303 c.856G>T p.A286S missense 0.00029009●●●●●●
35. 38651294 c.865G>A p.G289S missense 0.00002488●●●●●●
36. 38651285 c.874G>A p.G292S missense 0.00001659●●●●●●
37. 38651279 c.880G>A p.V294M missense 0.00003320●●●●●●
38. 38651267 c.892G>A p.G298S missense 0.00003326●●●●●●
39. 38651264 c.895T>A p.L299M missense 0.00015807●●●●●●
40. 38651261 c.898G>A p.V300I missense 0.00000833●●●●●●
41. 38649685 c.955G>A p.G319S missense 0.00005797●●●●●●
42. 38649681 c.959C>A p.T320N missense 0.00001656●●●●●●
43. 38648281 c.1019G>A p.R340Q missense 0.00009233●●●●●●
44. 38648282 c.1018C>T p.R340W missense 0.00000839●●●●●●
45. 38648201 c.1099C>T p.R367C missense 0.00000841●●●●●●
46. 38647543 c.1237G>A p.A413T missense 0.00001657●●●●●●
47. 38647498 c.1282G>A p.E428K missense 0.00004978●●●●●●
48. 38647447 c.1333C>G p.H445D missense 0.00005257●●●●●●
49. 38646398 c.1340C>G p.A447G missense 0.00007533●●●●●●
50. 38646393 c.1345A>G p.T449A missense 0.00002085●●●●●●
51. 38646357 c.1381T>G p.L461V missense 0.00116287●●●●●●
52. 38646354 c.1384G>A p.E462K missense 0.00006254●●●●●●
53. 38646313 c.1425A>C p.R475S missense 0.00002536●●●●●●
54. 38646297 c.1441C>T p.R481W missense 0.00113007●●●●●●
55. 38645558 c.1535C>T p.T512I missense 0.00001490●●●●●●
56. 38645522 c.1571C>A p.S524Y missense 0.00511545●●●●●●
57. 38645516 c.1577G>A p.R526H missense 0.00006845●●●●●●
58. 38645505 c.1588T>G p.F530V missense 0.00002029●●●●●●
59. 38645498 c.1595T>G p.F532C missense 0.00001904●●●●●●
60. 38645489 c.1604G>A p.R535Q missense 0.00001834●●●●●●
61. 38645439 c.1654G>C p.G552R missense 0.00001667●●●●●●
62. 38645430 c.1663G>A p.E555K missense 0.00004995●●●●●●
63. 38645420 c.1673A>G p.H558R missense 0.22173617●●●●●●
64. 38645417 c.1676C>T p.T559I missense 0.00000830●●●●●●
65. 38645393 c.1700T>A p.L567Q missense 0.00000829●●●●●●
66. 38645391 c.1702C>T p.R568C missense 0.00005806●●●●●●
67. 38645390 c.1703G>A p.R568H missense 0.00002488●●●●●●
68. 38645388 c.1705C>T p.R569W missense 0.00000829●●●●●●
69. 38645381 c.1712G>T p.S571I missense 0.00001658●●●●●●
70. 38645378 c.1715C>A p.A572D missense 0.00430377●●●●●●
71. 38645379 c.1714G>T p.A572S missense 0.00019073●●●●●●
72. 38645378 c.1715C>T p.A572V missense 0.00019073●●●●●●
73. 38645376 c.1717C>G p.Q573E missense 0.00000829●●●●●●
74. 38645358 c.1735G>A p.G579R missense 0.00011622●●●●●●
75. 38645249 c.1844G>A p.G615E missense 0.00023005●●●●●●
76. 38645241 c.1852C>T p.L618F missense 0.00057249●●●●●●
77. 38645238 c.1855C>T p.L619F missense 0.00003699●●●●●●
78. 38645235 c.1858C>T p.R620C missense 0.00000927●●●●●●
79. 38640537 c.1895C>T p.T632M missense 0.00000902●●●●●●
80. 38640489 c.1943C>T p.P648L missense 0.00003367●●●●●●
81. 38640472 c.1960G>A p.E654K missense 0.00004178●●●●●●
82. 38640465 c.1967C>T p.P656L missense 0.00039225●●●●●●
83. 38640451 c.1981C>T p.R661W missense 0.00002500●●●●●●
84. 38640418 c.2014G>A p.A672T missense 0.00088993●●●●●●
85. 38639417 c.2065C>T p.R689C missense 0.00001664●●●●●●
86. 38639416 c.2066G>A p.R689H missense 0.00011647●●●●●●
87. 38639411 c.2071G>A p.A691T missense 0.00004985●●●●●●
88. 38639408 c.2074C>A p.Q692K missense 0.00028223●●●●●●
89. 38639380 c.2102C>T p.P701L missense 0.00011594●●●●●●
90. 38639368 c.2114C>T p.S705F missense 0.00006624●●●●●●
91. 38639332 c.2150C>T p.P717L missense 0.00000828●●●●●●
92. 38639278 c.2204C>T p.A735V missense 0.00000828●●●●●●
93. 38639246 c.2236G>A p.E746K missense 0.00001661●●●●●●
94. 38629013 c.2314G>A p.D772N missense 0.00001658●●●●●●
95. 38628962 c.2365G>A p.V789I missense 0.00007501●●●●●●
96. 38627528 c.2441G>A p.R814Q missense 0.00001762●●●●●●
97. 38627472 c.2497G>A p.G833R missense 0.00016505●●●●●●
98. 38627292 c.2677C>T p.R893C missense 0.00000826●●●●●●
99. 38627199 c.2770G>A p.V924I missense 0.00013737●●●●●●
100. 38622757 c.2893C>T p.R965C missense 0.00006504●●●●●●
101. 38622756 c.2894G>A p.R965H missense 0.00001878●●●●●●
102. 38622739 c.2911C>T p.R971C missense 0.00000959●●●●●●
103. 38622727 c.2923C>T p.R975W missense 0.00001943●●●●●●
104. 38622706 c.2944T>C p.C982R missense 0.00008792●●●●●●
105. 38622693 c.2957G>A p.R986Q missense 0.00001975●●●●●●
106. 38622661 c.2989G>A p.A997T missense 0.00012477●●●●●●
107. 38622640 c.3010T>C p.C1004R missense 0.00031447●●●●●●
108. 38622603 c.3047C>T p.T1016M missense 0.00009559●●●●●●
109. 38622582 c.3068G>A p.R1023H missense 0.00035665●●●●●●
110. 38622532 c.3118G>A p.G1040R missense 0.00005015●●●●●●
111. 38622529 c.3121G>A p.D1041N missense 0.00007514●●●●●●
112. 38622493 c.3157G>A p.E1053K missense 0.00009987●●●●●●
113. 38622444 c.3206C>T p.T1069M missense 0.00012178●●●●●●
114. 38620970 c.3245T>C p.V1082A missense 0.00000914●●●●●●
115. 38620946 c.3269C>T p.P1090L missense 0.00171474●●●●●●
116. 38620923 c.3292G>T p.V1098L missense 0.00014761●●●●●●
117. 38620916 c.3299C>T p.A1100V missense 0.00005657●●●●●●
118. 38620907 c.3308C>A p.S1103Y missense 0.00799020●●●●●●
119. 38620896 c.3319G>A p.E1107K missense 0.00018418●●●●●●
120. 38620877 c.3338C>T p.A1113V missense 0.00001343●●●●●●
121. 38620875 c.3340G>A p.D1114N missense 0.00001402●●●●●●
122. 38620869 c.3346C>T p.R1116W missense 0.00001554●●●●●●
123. 38618271 c.3392C>T p.T1131I missense 0.00004455●●●●●●
124. 38616915 c.3539C>T p.A1180V missense 0.00014673●●●●●●
125. 38616898 c.3556G>A p.A1186T missense 0.00002453●●●●●●
126. 38616876 c.3578G>A p.R1193Q missense 0.00621531●●●●●●
127. 38616870 c.3584G>A p.R1195H missense 0.00004519●●●●●●
128. 38608058 c.3682T>C p.Y1228H missense 0.00000828●●●●●●
129. 38608045 c.3695G>A p.R1232Q missense 0.00001654●●●●●●
130. 38608022 c.3718G>C p.E1240Q missense 0.00004127●●●●●●
131. 38608013 c.3727G>A p.D1243N missense 0.00013198●●●●●●
132. 38607989 c.3751G>A p.V1251M missense 0.00026373●●●●●●
133. 38607956 c.3784G>A p.G1262S missense 0.00003296●●●●●●
134. 38603991 c.3878T>C p.F1293S missense 0.00040363●●●●●●
135. 38603958 c.3911C>T p.T1304M missense 0.00022498●●●●●●
136. 38603947 c.3922C>T p.L1308F missense 0.00055339●●●●●●
137. 38603913 c.3956G>T p.G1319V missense 0.00001415●●●●●●
138. 38601898 c.3985G>A p.G1329S missense 0.00001693●●●●●●
139. 38601883 c.4000A>G p.I1334V missense 0.00000834●●●●●●
140. 38601871 c.4012C>G p.L1338V missense 0.00000826●●●●●●
141. 38601865 c.4018G>A p.V1340I missense 0.00004951●●●●●●
142. 38601826 c.4057G>A p.V1353M missense 0.00004943●●●●●●
143. 38598027 c.4342A>C p.I1448L missense 0.00002780●●●●●●
144. 38597211 c.4478A>G p.K1493R missense 0.00002471●●●●●●
145. 38597188 c.4501C>G p.L1501V missense 0.00002471●●●●●●
146. 38597155 c.4534C>T p.R1512W missense 0.00007427●●●●●●
147. 38596010 c.4573G>A p.V1525M missense 0.00000829●●●●●●
148. 38595989 c.4594G>A p.V1532I missense 0.00033955●●●●●●
149. 38595835 c.4748G>A p.R1583H missense 0.00002485●●●●●●
150. 38595797 c.4786T>A p.F1596I missense 0.00006651●●●●●●
151. 38595794 c.4789G>A p.V1597M missense 0.00001667●●●●●●
152. 38595773 c.4810G>A p.V1604M missense 0.00003419●●●●●●
153. 38593004 c.4859C>T p.T1620M missense 0.00000826●●●●●●
154. 38592986 c.4877G>A p.R1626H missense 0.00006597●●●●●●
155. 38592968 c.4895G>A p.R1632H missense 0.00000824●●●●●●
156. 38592929 c.4934C>T p.T1645M missense 0.00002471●●●●●●
157. 38592885 c.4978A>G p.I1660V missense 0.00002471●●●●●●
158. 38592825 c.5038G>A p.A1680T missense 0.00002471●●●●●●
159. 38592771 c.5092G>A p.A1698T missense 0.00000824●●●●●●
160. 38592737 c.5126C>T p.T1709M missense 0.00000824●●●●●●
161. 38592734 c.5129C>T p.S1710L missense 0.00000824●●●●●●
162. 38592648 c.5215C>T p.R1739W missense 0.00003306●●●●●●
163. 38592624 c.5239G>A p.V1747M missense 0.00001650●●●●●●
164. 38592534 c.5329G>A p.V1777M missense 0.00002478●●●●●●
165. 38592527 c.5336C>T p.T1779M missense 0.00003305●●●●●●
166. 38592503 c.5360G>A p.S1787N missense 0.00061197●●●●●●
167. 38592408 c.5455G>A p.D1819N missense 0.00030631●●●●●●
168. 38592387 c.5476C>T p.R1826C missense 0.00002484●●●●●●
169. 38592386 c.5477G>A p.R1826H missense 0.00003312●●●●●●
170. 38592369 c.5494C>G p.Q1832E missense 0.00007452●●●●●●
171. 38592356 c.5507T>C p.I1836T missense 0.00023184●●●●●●
172. 38592174 c.5689C>T p.R1897W missense 0.00009936●●●●●●
173. 38592162 c.5701G>A p.E1901K missense 0.00004140●●●●●●
174. 38592162 c.5701G>C p.E1901Q missense 0.00002484●●●●●●
175. 38592152 c.5711C>T p.S1904L missense 0.00019045●●●●●●
176. 38592125 c.5738G>A p.R1913H missense 0.00003312●●●●●●
177. 38592108 c.5755C>T p.R1919C missense 0.00002485●●●●●●
178. 38592093 c.5770G>A p.A1924T missense 0.00004144●●●●●●
179. 38592060 c.5803G>A p.G1935S missense 0.00001673●●●●●●
180. 38592051 c.5812G>A p.E1938K missense 0.00000840●●●●●●
181. 38592021 c.5842A>G p.I1948V missense 0.00000853●●●●●●
182. 38592012 c.5851G>T p.V1951L missense 0.00541198●●●●●●
183. 38592012 c.5851G>A p.V1951M missense 0.00008632●●●●●●
184. 38591990 c.5873G>A p.R1958Q missense 0.00006181●●●●●●
185. 38591978 c.5885C>T p.P1962L missense 0.00015002●●●●●●
186. 38591972 c.5891C>T p.S1964F missense 0.00003525●●●●●●
187. 38591959 c.5904C>G p.I1968M missense 0.00002650●●●●●●
188. 38591960 c.5903T>G p.I1968S missense 0.00002652●●●●●●
189. 38591902 c.5961C>A p.N1987K missense 0.00000905●●●●●●
190. 38591900 c.5963T>G p.L1988R missense 0.00030799●●●●●●
191. 38591853 c.6010T>C p.F2004L missense 0.00201768●●●●●●
192. 38591853 c.6010T>G p.F2004V missense 0.00002751●●●●●●
193. 38591847 c.6016C>G p.P2006A missense 0.00134075●●●●●●
194. 38591829 c.6034C>T p.R2012C missense 0.00001844●●●●●●
195. 38592107 c.5756G>A p.R1919H missense 0.00000828●●●●●●
196. 38647444 c.1336G>A p.E446K missense 0.00072239●●●●●●
197. 38627416 c.2553C>A p.F851L missense 0.00000825●●●●●●
198. 38607905 c.3835G>A p.V1279I missense 0.00016520●●●●●●
199. 38646296 c.1442G>A p.R481Q missense 0.00000837●●●●●●
200. 38645556 c.1537C>T p.R513C missense 0.00004433●●●●●●
201. 38645495 c.1598G>A p.R533H missense 0.00011272●●●●●●
202. 38622745 c.2905G>T p.G969C missense 0.00001893●●●●●●
203. 38628905 c.2422C>T p.R808C missense 0.00000884●●●●●●
204. 38601722 c.4161G>C p.L1387F missense 0.00001684●●●●●●
205. 38616877 c.3577C>T p.R1193W missense 0.00010388●●●●●●
206. 38616792 c.3662C>T p.A1221V missense 0.00003077●●●●●●
207. 38645213 c.1880C>T p.P627L missense 0.00000938●●●●●●
208. 38607934 c.3806A>G p.N1269S missense 0.00000824●●●●●●
209. 38601751 c.4132G>A p.V1378M missense 0.00000831●●●●●●
210. 38592489 c.5374G>A p.D1792N missense 0.00002482●●●●●●
211. 38592647 c.5216G>A p.R1739Q missense 0.00000826●●●●●●
212. 38598739 c.4282G>T p.A1428S missense 0.00002486●●●●●●
213. 38601785 c.4098G>T p.Q1366H missense 0.00000825●●●●●●
214. 38622540 c.3110G>T p.G1037V missense 0.00000836●●●●●●
215. 38640492 c.1940C>T p.A647V missense 0.00000842●●●●●●
216. 38645439 c.1654G>T p.G552W missense 0.00001667●●●●●●
217. 38645441 c.1652C>T p.A551V missense 0.00004171●●●●●●
218. 38645525 c.1568G>A p.R523H missense 0.00001208●●●●●●
219. 38648249 c.1051G>A p.G351S missense 0.00000830●●●●●●
220. 38662449 c.496G>A p.A166T missense 0.00032201●●●●●●
221. 38671914 c.280A>G p.I94V missense 0.00001656●●●●●●
222. 38674546 c.253C>A p.P85T missense 0.00000900●●●●●●
223. 38674564 c.235C>T p.P79S missense 0.00000878●●●●●●
224. 38674614 c.185A>C p.K62T missense 0.00000842●●●●●●
225. 38674713 c.86C>T p.A29V missense 0.00007486●●●●●●
226. 38648255 c.1045G>A p.D349N missense 0.00001661●●●●●●
227. 38628928 c.2399G>T p.R800L missense 0.00000850●●●●●●
228. 38592495 c.5368G>A p.D1790N missense 0.00001654●●●●●●
229. 38651318 c.841G>A p.V281M missense 0.00000829●●●●●●
230. 38591856 c.6007G>A p.D2003N missense 0.00003667●●●●●●
231. 38591892 c.5971C>T p.R1991W missense 0.00002724●●●●●●
232. 38592068 c.5795C>T p.A1932V missense 0.00006666●●●●●●
233. 38592170 c.5693G>A p.R1898H missense 0.00006624●●●●●●
234. 38592171 c.5692C>T p.R1898C missense 0.00002484●●●●●●
235. 38592339 c.5524A>T p.M1842L missense 0.00000828●●●●●●
236. 38592428 c.5435C>T p.S1812L missense 0.00002484●●●●●●
237. 38592474 c.5389A>G p.I1797V missense 0.00000828●●●●●●
238. 38592947 c.4916G>C p.G1639A missense 0.00000824●●●●●●
239. 38592950 c.4913G>A p.R1638Q missense 0.00001647●●●●●●
240. 38596039 c.4544A>G p.N1515S missense 0.00000836●●●●●●
241. 38597154 c.4535G>A p.R1512Q missense 0.00002477●●●●●●
242. 38601813 c.4070C>T p.A1357V missense 0.00008240●●●●●●
243. 38616912 c.3542T>C p.V1181A missense 0.00003900●●●●●●
244. 38616930 c.3524G>A p.R1175H missense 0.00005767●●●●●●
245. 38616934 c.3520C>T p.R1174W missense 0.00002983●●●●●●
246. 38618272 c.3391A>T p.T1131S missense 0.00002228●●●●●●
247. 38620827 c.3388G>A p.E1130K missense 0.00003718●●●●●●
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494. 38627355 c.2614G>A p.D872N missense 0.00001651●●●●●●
495. 38627362 c.2607G>C p.R869S missense 0.00000825●●●●●●
496. 38627372 c.2597C>T p.S866L missense 0.00001650●●●●●●
497. 38627373 c.2596T>C p.S866P missense 0.00000825●●●●●●
498. 38627397 c.2572A>T p.M858L missense 0.00000825●●●●●●
499. 38627399 c.2570G>A p.G857D missense 0.00000825●●●●●●
500. 38627446 c.2523C>A p.N841K missense 0.00000825●●●●●●
501. 38627463 c.2506G>A p.V836M missense 0.00000825●●●●●●
502. 38628904 c.2423G>A p.R808H missense 0.00001777●●●●●●
503. 38628911 c.2416G>A p.V806M missense 0.00000870●●●●●●
504. 38628913 c.2414C>T p.S805L missense 0.00001730●●●●●●
505. 38628929 c.2398C>T p.R800C missense 0.00001695●●●●●●
506. 38628961 c.2366T>C p.V789A missense 0.00000833●●●●●●
507. 38628977 c.2350T>C p.F784L missense 0.00000831●●●●●●
508. 38629038 c.2289G>C p.E763D missense 0.00000829●●●●●●
509. 38629040 c.2287G>A p.E763K missense 0.00001658●●●●●●
510. 38629052 c.2275A>G p.I759V missense 0.00000830●●●●●●
511. 38639231 c.2251G>A p.V751I missense 0.00000837●●●●●●
512. 38639231 c.2251G>T p.V751F missense 0.00000837●●●●●●
513. 38639242 c.2240A>C p.E747A missense 0.00000832●●●●●●
514. 38639258 c.2224A>G p.T742A missense 0.00000829●●●●●●
515. 38639283 c.2199C>G p.F733L missense 0.00001656●●●●●●
516. 38639292 c.2190C>A p.N730K missense 0.00000828●●●●●●
517. 38639311 c.2171C>T p.T724I missense 0.00000828●●●●●●
518. 38639328 c.2154T>G p.F718L missense 0.00000828●●●●●●
519. 38639341 c.2141T>C p.V714A missense 0.00005795●●●●●●
520. 38639411 c.2071G>T p.A691S missense 0.00000831●●●●●●
521. 38639452 c.2030A>T p.E677V missense 0.00000851●●●●●●
522. 38640421 c.2011A>T p.S671C missense 0.00000832●●●●●●
523. 38640430 c.2002G>A p.V668I missense 0.00001665●●●●●●
524. 38640439 c.1993G>A p.A665T missense 0.00004162●●●●●●
525. 38640457 c.1975C>T p.R659W missense 0.00003334●●●●●●
526. 38640459 c.1973C>T p.A658V missense 0.00000834●●●●●●
527. 38640477 c.1955G>A p.G652D missense 0.00000836●●●●●●
528. 38640487 c.1945T>C p.C649R missense 0.00000840●●●●●●
529. 38640493 c.1939G>T p.A647S missense 0.00001686●●●●●●
530. 38640514 c.1918C>T p.P640S missense 0.00000857●●●●●●
531. 38640526 c.1906G>A p.E636K missense 0.00000876●●●●●●
532. 38640531 c.1901C>G p.S634W missense 0.00000884●●●●●●
533. 38645218 c.1875G>C p.E625D missense 0.00003739●●●●●●
534. 38645225 c.1868T>C p.M623T missense 0.00000931●●●●●●
535. 38645234 c.1859G>A p.R620H missense 0.00002784●●●●●●
536. 38645246 c.1847G>A p.S616N missense 0.00000921●●●●●●
537. 38645265 c.1828G>A p.E610K missense 0.00000915●●●●●●
538. 38645271 c.1822G>C p.D608H missense 0.00000913●●●●●●
539. 38645271 c.1822G>A p.D608N missense 0.00000913●●●●●●
540. 38645273 c.1820G>T p.G607V missense 0.00006371●●●●●●
541. 38645273 c.1820G>A p.G607D missense 0.00000910●●●●●●
542. 38645298 c.1795G>A p.G599R missense 0.00000880●●●●●●
543. 38645331 c.1762C>A p.H588N missense 0.00000836●●●●●●
544. 38645336 c.1757C>G p.A586G missense 0.00000835●●●●●●
545. 38645343 c.1750G>C p.G584R missense 0.00002495●●●●●●
546. 38645351 c.1742C>T p.S581L missense 0.00001661●●●●●●
547. 38645384 c.1709C>A p.T570N missense 0.00000829●●●●●●
548. 38645387 c.1706G>A p.R569Q missense 0.00001659●●●●●●
549. 38645417 c.1676C>G p.T559R missense 0.00000830●●●●●●
550. 38645424 c.1669C>T p.H557Y missense 0.00001661●●●●●●
551. 38645480 c.1613G>A p.G538D missense 0.00000880●●●●●●
552. 38645496 c.1597C>T p.R533C missense 0.00000949●●●●●●
553. 38645496 c.1597C>A p.R533S missense 0.00002846●●●●●●
554. 38645499 c.1594T>C p.F532L missense 0.00000960●●●●●●
555. 38645501 c.1592C>T p.T531I missense 0.00000973●●●●●●
556. 38645502 c.1591A>G p.T531A missense 0.00001965●●●●●●
557. 38645504 c.1589T>C p.F530S missense 0.00001000●●●●●●
558. 38645509 c.1584C>A p.S528R missense 0.00002158●●●●●●
559. 38645514 c.1579G>A p.G527R missense 0.00004435●●●●●●
560. 38645535 c.1558A>G p.M520V missense 0.00006381●●●●●●
561. 38645542 c.1551G>C p.R517S missense 0.00001341●●●●●●
562. 38646220 c.1518G>A p.M506I missense 0.00000849●●●●●●
563. 38646224 c.1514C>A p.A505E missense 0.00001689●●●●●●
564. 38646227 c.1511G>C p.R504T missense 0.00000842●●●●●●
565. 38646269 c.1469G>A p.G490E missense 0.00000832●●●●●●
566. 38646282 c.1456A>G p.T486A missense 0.00000833●●●●●●
567. 38646298 c.1440A>C p.K480N missense 0.00000838●●●●●●
568. 38646314 c.1424G>A p.R475K missense 0.00000846●●●●●●
569. 38646317 c.1421G>A p.R474K missense 0.00001697●●●●●●
570. 38646335 c.1403C>T p.P468L missense 0.00000867●●●●●●
571. 38646350 c.1388T>C p.M463T missense 0.00000885●●●●●●
572. 38646350 c.1388T>G p.M463R missense 0.00000885●●●●●●
573. 38646366 c.1372C>T p.R458C missense 0.00019475●●●●●●
574. 38646372 c.1366G>A p.V456M missense 0.00001889●●●●●●
575. 38647445 c.1335C>A p.H445Q missense 0.00000879●●●●●●
576. 38647459 c.1321C>T p.L441F missense 0.00000862●●●●●●
577. 38647470 c.1310C>T p.A437V missense 0.00000848●●●●●●
578. 38647483 c.1297C>A p.R433S missense 0.00000834●●●●●●
579. 38647507 c.1273G>C p.A425P missense 0.00000829●●●●●●
580. 38647551 c.1229C>T p.A410V missense 0.00000828●●●●●●
581. 38647570 c.1210C>G p.L404V missense 0.00000828●●●●●●
582. 38647574 c.1206C>G p.F402L missense 0.00000829●●●●●●
583. 38647617 c.1163T>G p.I388S missense 0.00000831●●●●●●
584. 38647627 c.1153G>A p.A385T missense 0.00000832●●●●●●
585. 38647630 c.1150T>A p.S384T missense 0.00000832●●●●●●
586. 38648263 c.1037A>G p.E346G missense 0.00000832●●●●●●
587. 38649646 c.994G>A p.A332T missense 0.00000828●●●●●●
588. 38649651 c.989C>T p.S330F missense 0.00000828●●●●●●
589. 38649691 c.949A>G p.K317E missense 0.00000828●●●●●●
590. 38651243 c.916C>G p.L306V missense 0.00000841●●●●●●
591. 38651243 c.916C>T p.L306F missense 0.00000841●●●●●●
592. 38651246 c.913G>A p.D305N missense 0.00001678●●●●●●
593. 38651262 c.897G>C p.L299F missense 0.00001665●●●●●●
594. 38651266 c.893G>A p.G298D missense 0.00000832●●●●●●
595. 38651276 c.883G>A p.E295K missense 0.00000830●●●●●●
596. 38651296 c.863A>G p.N288S missense 0.00000829●●●●●●
597. 38651302 c.857C>T p.A286V missense 0.00000829●●●●●●
598. 38651305 c.854C>A p.T285K missense 0.00000829●●●●●●
599. 38651357 c.802G>A p.G268S missense 0.00000828●●●●●●
600. 38651362 c.797T>A p.L266H missense 0.00000828●●●●●●
601. 38651365 c.794C>T p.A265V missense 0.00000828●●●●●●
602. 38651372 c.787G>A p.V263I missense 0.00001657●●●●●●
603. 38651375 c.784A>G p.S262G missense 0.00000828●●●●●●
604. 38655257 c.680T>C p.L227P missense 0.00001571●●●●●●
605. 38655282 c.655C>T p.R219C missense 0.00003863●●●●●●
606. 38662376 c.569G>T p.R190L missense 0.00004241●●●●●●
607. 38662377 c.568C>T p.R190W missense 0.00001365●●●●●●
608. 38662385 c.560C>G p.T187S missense 0.00002363●●●●●●
609. 38662409 c.536G>A p.R179Q missense 0.00002722●●●●●●
610. 38662425 c.520G>A p.V174I missense 0.00000860●●●●●●
611. 38662460 c.485A>G p.Y162C missense 0.00000846●●●●●●
612. 38662461 c.484T>C p.Y162H missense 0.00000846●●●●●●
613. 38663897 c.476A>G p.Y159C missense 0.00001260●●●●●●
614. 38663919 c.454G>A p.D152N missense 0.00002166●●●●●●
615. 38663946 c.427A>G p.T143A missense 0.00001077●●●●●●
616. 38663964 c.409A>G p.I137V missense 0.00002291●●●●●●
617. 38663970 c.403A>G p.M135V missense 0.00001169●●●●●●
618. 38671826 c.368C>T p.A123V missense 0.00004141●●●●●●
619. 38671838 c.356C>T p.P119L missense 0.00000828●●●●●●
620. 38671859 c.335A>G p.Y112C missense 0.00000828●●●●●●
621. 38671877 c.317G>C p.S106T missense 0.00000828●●●●●●
622. 38671892 c.302C>T p.T101I missense 0.00000828●●●●●●
623. 38671911 c.283G>C p.V95L missense 0.00000828●●●●●●
624. 38671919 c.275C>T p.T92I missense 0.00005798●●●●●●
625. 38674537 c.262A>G p.S88G missense 0.00000904●●●●●●
626. 38674543 c.256T>C p.F86L missense 0.00000901●●●●●●
627. 38674546 c.253C>T p.P85S missense 0.00000900●●●●●●
628. 38674553 c.246C>A p.D82E missense 0.00002678●●●●●●
629. 38674553 c.246C>G p.D82E missense 0.00000893●●●●●●
630. 38674563 c.236C>A p.P79H missense 0.00000879●●●●●●
631. 38674564 c.235C>G p.P79A missense 0.00000878●●●●●●
632. 38674593 c.206G>A p.G69D missense 0.00002533●●●●●●
633. 38674644 c.155C>A p.P52H missense 0.00000849●●●●●●
634. 38674647 c.152C>T p.A51V missense 0.00000849●●●●●●
635. 38674654 c.145G>A p.E49K missense 0.00000851●●●●●●
636. 38674690 c.109A>G p.T37A missense 0.00001686●●●●●●
637. 38674716 c.83T>C p.M28T missense 0.00000832●●●●●●
638. 38674717 c.82A>T p.M28L missense 0.00001664●●●●●●
639. 38674719 c.80G>T p.R27L missense 0.00001665●●●●●●
640. 38674720 c.79C>T p.R27C missense 0.00002497●●●●●●
641. 38674726 c.73G>A p.E25K missense 0.00000833●●●●●●
642. 38674732 c.67G>T p.A23S missense 0.00000833●●●●●●
643. 38674734 c.65C>T p.A22V missense 0.00000833●●●●●●
644. 38674751 c.48C>G p.F16L missense 0.00000837●●●●●●
645. 38674759 c.40C>A p.R14S missense 0.00000838●●●●●●
646. 38674770 c.29C>G p.T10S missense 0.00000841●●●●●●
647. 38674774 c.25G>A p.G9S missense 0.00002524●●●●●●
648. 38674776 c.23G>A p.R8Q missense 0.00005051●●●●●●
649. 38674779 c.20C>G p.P7R missense 0.00000843●●●●●●
650. 38674791 c.8A>G p.N3S missense 0.00000845●●●●●●
651. 38592978 c.4885C>T p.R1629X nonsense 0.00000824●●●●●●
652. 38592951 c.4912C>T p.R1638X nonsense 0.00002471●●●●●●
653. 38591991 c.5872C>T p.R1958X nonsense 0.00007039●●●●●●
654. 38592051 c.5812G>T p.E1938X nonsense 0.00000840●●●●●●
655. 38591813 c.6050G>A nonsense 0.00001850●●●●●●
656. 38647642 c.1141-3C>A splice site 0.17223422●●●●●●
657. 38622868 c.2788-6C>T splice site 0.03963846●●●●●●
658. 38663985 c.393-5C>A splice site 0.00012968●●●●●●
659. 38651221 c.934+4C>T splice site 0.00029208●●●●●●
660. 38618279 c.3391-7T>C splice site 0.00027924●●●●●●
661. 38627537 c.2437-5C>A splice site 0.00034623●●●●●●
662. 38640549 c.1891-8G>C splice site 0.00001847●●●●●●
663. 38640549 c.1891-8G>A splice site 0.00002771●●●●●●
664. 38649637 c.998+5G>A splice site 0.00018220●●●●●●
665. 38598067 c.4302T>C p.Y1434Y splice site 0.00026680●●●●●●
666. 38622867 c.2788-5G>A splice site 0.00001059●●●●●●
667. 38651220 c.934+5G>A splice site 0.00003561●●●●●●
668. 38597928 c.4437+4C>T splice site 0.00010193●●●●●●
669. 38607892 c.3840+8T>C splice site 0.00010779●●●●●●
670. 38608080 c.3667-7T>A splice site 0.00006628●●●●●●
671. 38618270 c.3393C>T p.T1131T splice site 0.00001114●●●●●●
672. 38622416 c.3228+6C>G splice site 0.00006435●●●●●●
673. 38598713 c.4299+9C>A splice site 0.00009974●●●●●●
674. 38616778 c.3666+10T>C splice site 0.00003204●●●●●●
675. 38616784 c.3666+4C>G splice site 0.00005243●●●●●●
676. 38618141 c.3511+11G>A splice site 0.00010339●●●●●●
677. 38618142 c.3511+10C>T splice site 0.00643103●●●●●●
678. 38622872 c.2788-10A>T splice site 0.00001104●●●●●●
679. 38645196 c.1890+7C>T splice site 0.00001895●●●●●●
680. 38662325 c.611+9C>G splice site 0.00003621●●●●●●
681. 38593054 c.4814-5C>T splice site 0.00000855●●●●●●
682. 38595762 c.4813+8T>C splice site 0.00000870●●●●●●
683. 38595763 c.4813+7A>G splice site 0.00000869●●●●●●
684. 38596047 c.4543-7C>T splice site 0.00004194●●●●●●
685. 38596049 c.4543-9_4543-8delTC splice site 0.00000839●●●●●●
686. 38597147 c.4542G>C splice site 0.00000827●●●●●●
687. 38597928 c.4437+4C>G splice site 0.00002548●●●●●●
688. 38598714 c.4299+8G>A splice site 0.00000831●●●●●●
689. 38598779 c.4246-4C>T splice site 0.00002487●●●●●●
690. 38601634 c.4245+4A>G splice site 0.00001219●●●●●●
691. 38607892 c.3840+8_3840+9delTG splice site 0.00005809●●●●●●
692. 38607892 c.3840+8_3840+9dupTG splice site 0.00002490●●●●●●
693. 38607893 c.3840+7G>T splice site 0.00000829●●●●●●
694. 38607900 c.3840C>T splice site 0.00002481●●●●●●
695. 38608077 c.3667-4G>A splice site 0.00000828●●●●●●
696. 38622414 c.3228+8C>T splice site 0.00000922●●●●●●
697. 38628885 c.2436+6T>C splice site 0.00000969●●●●●●
698. 38628886 c.2436+5C>A splice site 0.00000965●●●●●●
699. 38629062 c.2265C>G splice site 0.00000830●●●●●●
700. 38629062 c.2265C>A splice site 0.00000830●●●●●●
701. 38639463 c.2024-5C>T splice site 0.00000859●●●●●●
702. 38639464 c.2024-6C>T splice site 0.00000860●●●●●●
703. 38640546 c.1891-5C>T splice site 0.00001837●●●●●●
704. 38645580 c.1519-6C>T splice site 0.00001709●●●●●●
705. 38646397 c.1341C>T splice site 0.00002128●●●●●●
706. 38648152 c.1140+8T>C splice site 0.00001091●●●●●●
707. 38649638 c.998+4T>C splice site 0.00000828●●●●●●
708. 38649708 c.935-3C>T splice site 0.00000828●●●●●●
709. 38649709 c.935-4A>G splice site 0.00002484●●●●●●
710. 38649710 c.935-5T>C splice site 0.00009110●●●●●●
711. 38655228 c.703+6A>G splice site 0.00002509●●●●●●
712. 38663893 c.480C>T splice site 0.00005291●●●●●●
713. 38663980 c.393G>A splice site 0.00001251●●●●●●
714. 38663985 c.393-5C>T splice site 0.00001297●●●●●●
715. 38671925 c.274-5C>G splice site 0.00001657●●●●●●
716. 38671925 c.274-5C>T splice site 0.00000829●●●●●●
717. 38663981 c.393-1C>T essential splice site 0.00001262●●●●●●
718. 38603905 c.3963+1G>A essential splice site 0.00001557●●●●●●
719. 38655327 c.612-2A>G essential splice site 0.00001451●●●●●●
720. 38595769 c.4813+1G>A essential splice site 0.00000862●●●●●●
721. 38598070 c.4300-1G>T essential splice site 0.00000891●●●●●●
722. 38592004 c.5859_5862delTGAG p.Ser1953ArgfsTer84 frameshift 0.00000872●●●●●●
723. 38592095 c.5768_5771dupATGC p.Ser1925CysfsTer20 frameshift 0.00005804●●●●●●
724. 38592176 c.5687_5688delTC p.Leu1896ProfsTer47 frameshift 0.00001656●●●●●●
725. 38627262 c.2707delA p.Met903CysfsTer29 frameshift 0.00000826●●●●●●
726. 38629048 c.2279delT p.Phe760SerfsTer5 frameshift 0.00000829●●●●●●
727. 38645523 c.1570_1571insTCTGCCCAGTTCTAGTCTGAAAACAAAGCACAGGGTTGGGCACACTGTGGGTGCCTAATCAACAAGG p.Ser524PhefsTer7 frameshift 0.00001184●●●●●●
728. 38648230 c.1070_1074dupCCTTT p.Ala359ProfsTer12 frameshift 0.00000831●●●●●●
729. 38647495 c.1285_1287delGAG p.Glu429del inframe 0.00000831●●●●●●
730. 38645337 c.1756_1761delGCCCTC p.Ala586_Leu587del inframe 0.00015051●●●●●●
731. 38593013 c.4850_4852delTCT inframe 0.00000827●●●●●●
732. 38592795 c.5068_5070delGAC p.Asp1690del inframe 0.00000824●●●●●●
733. 38622436 c.3214_3216delGAG p.Glu1072del inframe 0.00000888●●●●●●
734. 38622460 c.3190_3192delGAG p.Glu1064del inframe 0.00001699●●●●●●
735. 38622651 c.2999_3001delAGC p.Gln1000del inframe 0.00002806●●●●●●
736. 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.