SCN5A non-truncating variants in ExAC

SCN5A gene summary
SCN5A variants in

The table below lists the SCN5A non-truncating 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. 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. 38645516 c.1577G>A p.R526H missense 0.00006845●●●●●●
19. 38592068 c.5795C>T p.A1932V missense 0.00006666●●●●●●
20. 38618223 c.3440C>A p.T1147N missense 0.00006652●●●●●●
21. 38595797 c.4786T>A p.F1596I missense 0.00006651●●●●●●
22. 38592170 c.5693G>A p.R1898H missense 0.00006624●●●●●●
23. 38639368 c.2114C>T p.S705F missense 0.00006624●●●●●●
24. 38592986 c.4877G>A p.R1626H missense 0.00006597●●●●●●
25. 38622757 c.2893C>T p.R965C missense 0.00006504●●●●●●
26. 38645535 c.1558A>G p.M520V missense 0.00006381●●●●●●
27. 38645273 c.1820G>T p.G607V missense 0.00006371●●●●●●
28. 38598036 c.4333T>C p.Y1445H missense 0.00006331●●●●●●
29. 38620953 c.3262G>A p.A1088T missense 0.00006309●●●●●●
30. 38646354 c.1384G>A p.E462K missense 0.00006254●●●●●●
31. 38591990 c.5873G>A p.R1958Q missense 0.00006181●●●●●●
32. 38645391 c.1702C>T p.R568C missense 0.00005806●●●●●●
33. 38651420 c.739G>C p.V247L missense 0.00005799●●●●●●
34. 38671919 c.275C>T p.T92I missense 0.00005798●●●●●●
35. 38649685 c.955G>A p.G319S missense 0.00005797●●●●●●
36. 38595908 c.4675A>G p.I1559V missense 0.00005796●●●●●●
37. 38639341 c.2141T>C p.V714A missense 0.00005795●●●●●●
38. 38608000 c.3740C>T p.T1247I missense 0.00005771●●●●●●
39. 38616930 c.3524G>A p.R1175H missense 0.00005767●●●●●●
40. 38620916 c.3299C>T p.A1100V missense 0.00005657●●●●●●
41. 38645204 c.1889C>T p.T630M missense 0.00005657●●●●●●
42. 38618204 c.3459G>C p.Q1153H missense 0.00005455●●●●●●
43. 38647447 c.1333C>G p.H445D missense 0.00005257●●●●●●
44. 38645317 c.1776C>G p.N592K missense 0.00005089●●●●●●
45. 38622570 c.3080G>A p.R1027Q missense 0.00005059●●●●●●
46. 38674776 c.23G>A p.R8Q missense 0.00005051●●●●●●
47. 38622556 c.3094G>A p.E1032K missense 0.00005033●●●●●●
48. 38622532 c.3118G>A p.G1040R missense 0.00005015●●●●●●
49. 38645430 c.1663G>A p.E555K missense 0.00004995●●●●●●
50. 38639411 c.2071G>A p.A691T missense 0.00004985●●●●●●
51. 38647498 c.1282G>A p.E428K missense 0.00004978●●●●●●
52. 38639405 c.2077C>T p.R693C missense 0.00004976●●●●●●
53. 38596016 c.4567G>A p.D1523N missense 0.00004975●●●●●●
54. 38647508 c.1272C>G p.I424M missense 0.00004973●●●●●●
55. 38601865 c.4018G>A p.V1340I missense 0.00004951●●●●●●
56. 38592626 c.5237C>T p.A1746V missense 0.00004950●●●●●●
57. 38601826 c.4057G>A p.V1353M missense 0.00004943●●●●●●
58. 38591828 c.6035G>A p.R2012H missense 0.00004612●●●●●●
59. 38620890 c.3325A>G p.S1109G missense 0.00004581●●●●●●
60. 38616870 c.3584G>A p.R1195H missense 0.00004519●●●●●●
61. 38618271 c.3392C>T p.T1131I missense 0.00004455●●●●●●
62. 38618259 c.3404G>T p.S1135I missense 0.00004450●●●●●●
63. 38645514 c.1579G>A p.G527R missense 0.00004435●●●●●●
64. 38645556 c.1537C>T p.R513C missense 0.00004433●●●●●●
65. 38640531 c.1901C>T p.S634L missense 0.00004418●●●●●●
66. 38662391 c.554C>T p.A185V missense 0.00004341●●●●●●
67. 38618196 c.3467A>G p.D1156G missense 0.00004324●●●●●●
68. 38662376 c.569G>T p.R190L missense 0.00004241●●●●●●
69. 38674755 c.44G>C p.R15T missense 0.00004187●●●●●●
70. 38640472 c.1960G>A p.E654K missense 0.00004178●●●●●●
71. 38645441 c.1652C>T p.A551V missense 0.00004171●●●●●●
72. 38640439 c.1993G>A p.A665T missense 0.00004162●●●●●●
73. 38592093 c.5770G>A p.A1924T missense 0.00004144●●●●●●
74. 38671826 c.368C>T p.A123V missense 0.00004141●●●●●●
75. 38592162 c.5701G>A p.E1901K missense 0.00004140●●●●●●
76. 38608022 c.3718G>C p.E1240Q missense 0.00004127●●●●●●
77. 38622688 c.2962C>T p.R988W missense 0.00003963●●●●●●
78. 38622687 c.2963G>A p.R988Q missense 0.00003947●●●●●●
79. 38616912 c.3542T>C p.V1181A missense 0.00003900●●●●●●
80. 38655282 c.655C>T p.R219C missense 0.00003863●●●●●●
81. 38645218 c.1875G>C p.E625D missense 0.00003739●●●●●●
82. 38620827 c.3388G>A p.E1130K missense 0.00003718●●●●●●
83. 38645238 c.1855C>T p.L619F missense 0.00003699●●●●●●
84. 38591817 c.6046G>A p.V2016M missense 0.00003697●●●●●●
85. 38591856 c.6007G>A p.D2003N missense 0.00003667●●●●●●
86. 38591912 c.5951C>T p.T1984I missense 0.00003603●●●●●●
87. 38622618 c.3032C>T p.P1011L missense 0.00003570●●●●●●
88. 38591972 c.5891C>T p.S1964F missense 0.00003525●●●●●●
89. 38646340 c.1398G>T p.L466F missense 0.00003481●●●●●●
90. 38592003 c.5860G>A p.E1954K missense 0.00003480●●●●●●
91. 38595773 c.4810G>A p.V1604M missense 0.00003419●●●●●●
92. 38601712 c.4171G>A p.G1391R missense 0.00003412●●●●●●
93. 38674671 c.128G>A p.R43Q missense 0.00003401●●●●●●
94. 38674590 c.209A>G p.N70S missense 0.00003383●●●●●●
95. 38640489 c.1943C>T p.P648L missense 0.00003367●●●●●●
96. 38618221 c.3442G>A p.A1148T missense 0.00003348●●●●●●
97. 38640457 c.1975C>T p.R659W missense 0.00003334●●●●●●
98. 38651267 c.892G>A p.G298S missense 0.00003326●●●●●●
99. 38651279 c.880G>A p.V294M missense 0.00003320●●●●●●
100. 38595989 c.4594G>T p.V1532F missense 0.00003313●●●●●●
101. 38671911 c.283G>A p.V95I missense 0.00003313●●●●●●
102. 38592386 c.5477G>A p.R1826H missense 0.00003312●●●●●●
103. 38592125 c.5738G>A p.R1913H missense 0.00003312●●●●●●
104. 38592648 c.5215C>T p.R1739W missense 0.00003306●●●●●●
105. 38592527 c.5336C>T p.T1779M missense 0.00003305●●●●●●
106. 38592566 c.5297T>C p.M1766T missense 0.00003299●●●●●●
107. 38607956 c.3784G>A p.G1262S missense 0.00003296●●●●●●
108. 38592835 c.5028G>A p.M1676I missense 0.00003295●●●●●●
109. 38616792 c.3662C>T p.A1221V missense 0.00003077●●●●●●
110. 38616934 c.3520C>T p.R1174W missense 0.00002983●●●●●●
111. 38616933 c.3521G>A p.R1174Q missense 0.00002954●●●●●●
112. 38655263 c.674G>A p.R225Q missense 0.00002900●●●●●●
113. 38645496 c.1597C>A p.R533S missense 0.00002846●●●●●●
114. 38622651 c.2999_3001delAGC p.Gln1000del inframe 0.00002806●●●●●●
115. 38645234 c.1859G>A p.R620H missense 0.00002784●●●●●●
116. 38598027 c.4342A>C p.I1448L missense 0.00002780●●●●●●
117. 38591835 c.6028A>G p.R2010G missense 0.00002763●●●●●●
118. 38591853 c.6010T>G p.F2004V missense 0.00002751●●●●●●
119. 38591892 c.5971C>T p.R1991W missense 0.00002724●●●●●●
120. 38662409 c.536G>A p.R179Q missense 0.00002722●●●●●●
121. 38663892 c.481G>A p.E161K missense 0.00002693●●●●●●
122. 38591925 c.5938G>T p.V1980F missense 0.00002687●●●●●●
123. 38674553 c.246C>A p.D82E missense 0.00002678●●●●●●
124. 38622619 c.3031C>T p.P1011S missense 0.00002676●●●●●●
125. 38591960 c.5903T>G p.I1968S missense 0.00002652●●●●●●
126. 38591959 c.5904C>G p.I1968M missense 0.00002650●●●●●●
127. 38603919 c.3950T>G p.F1317C missense 0.00002605●●●●●●
128. 38674657 c.142G>A p.E48K missense 0.00002557●●●●●●
129. 38622583 c.3067C>T p.R1023C missense 0.00002549●●●●●●
130. 38603922 c.3947G>A p.R1316Q missense 0.00002548●●●●●●
131. 38674589 c.210T>G p.N70K missense 0.00002538●●●●●●
132. 38674795 c.4G>A p.A2T missense 0.00002537●●●●●●
133. 38646313 c.1425A>C p.R475S missense 0.00002536●●●●●●
134. 38674593 c.206G>A p.G69D missense 0.00002533●●●●●●
135. 38674774 c.25G>A p.G9S missense 0.00002524●●●●●●
136. 38674698 c.101G>A p.R34H missense 0.00002519●●●●●●
137. 38674746 c.53G>A p.R18Q missense 0.00002506●●●●●●
138. 38622517 c.3133G>A p.V1045M missense 0.00002500●●●●●●
139. 38640451 c.1981C>T p.R661W missense 0.00002500●●●●●●
140. 38640448 c.1984G>T p.A662S missense 0.00002499●●●●●●
141. 38674720 c.79C>T p.R27C missense 0.00002497●●●●●●
142. 38648264 c.1036G>A p.E346K missense 0.00002496●●●●●●
143. 38645343 c.1750G>C p.G584R missense 0.00002495●●●●●●
144. 38592077 c.5786G>A p.R1929H missense 0.00002492●●●●●●
145. 38651294 c.865G>A p.G289S missense 0.00002488●●●●●●
146. 38645390 c.1703G>A p.R568H missense 0.00002488●●●●●●
147. 38598739 c.4282G>T p.A1428S missense 0.00002486●●●●●●
148. 38595835 c.4748G>A p.R1583H missense 0.00002485●●●●●●
149. 38592108 c.5755C>T p.R1919C missense 0.00002485●●●●●●
150. 38592428 c.5435C>T p.S1812L missense 0.00002484●●●●●●
151. 38592195 c.5668G>A p.E1890K missense 0.00002484●●●●●●
152. 38592162 c.5701G>C p.E1901Q missense 0.00002484●●●●●●
153. 38592171 c.5692C>T p.R1898C missense 0.00002484●●●●●●
154. 38592387 c.5476C>T p.R1826C missense 0.00002484●●●●●●
155. 38592381 c.5482G>A p.A1828T missense 0.00002484●●●●●●
156. 38608052 c.3688G>A p.E1230K missense 0.00002482●●●●●●
157. 38592489 c.5374G>A p.D1792N missense 0.00002482●●●●●●
158. 38592642 c.5221G>A p.D1741N missense 0.00002479●●●●●●
159. 38592534 c.5329G>A p.V1777M missense 0.00002478●●●●●●
160. 38597154 c.4535G>A p.R1512Q missense 0.00002477●●●●●●
161. 38592885 c.4978A>G p.I1660V missense 0.00002471●●●●●●
162. 38592825 c.5038G>A p.A1680T missense 0.00002471●●●●●●
163. 38597211 c.4478A>G p.K1493R missense 0.00002471●●●●●●
164. 38592830 c.5033A>G p.N1678S missense 0.00002471●●●●●●
165. 38592929 c.4934C>T p.T1645M missense 0.00002471●●●●●●
166. 38597188 c.4501C>G p.L1501V missense 0.00002471●●●●●●
167. 38616898 c.3556G>A p.A1186T missense 0.00002453●●●●●●
168. 38616894 c.3560C>A p.P1187Q missense 0.00002420●●●●●●
169. 38662385 c.560C>G p.T187S missense 0.00002363●●●●●●
170. 38655234 c.703G>A p.G235R missense 0.00002301●●●●●●
171. 38663964 c.409A>G p.I137V missense 0.00002291●●●●●●
172. 38618272 c.3391A>T p.T1131S missense 0.00002228●●●●●●
173. 38618200 c.3463C>T p.P1155S missense 0.00002171●●●●●●
174. 38663919 c.454G>A p.D152N missense 0.00002166●●●●●●
175. 38645509 c.1584C>A p.S528R missense 0.00002158●●●●●●
176. 38646393 c.1345A>G p.T449A missense 0.00002085●●●●●●
177. 38616832 c.3622G>A p.E1208K missense 0.00002030●●●●●●
178. 38645505 c.1588T>G p.F530V missense 0.00002029●●●●●●
179. 38622693 c.2957G>A p.R986Q missense 0.00001975●●●●●●
180. 38645502 c.1591A>G p.T531A missense 0.00001965●●●●●●
181. 38620907 c.3308C>T p.S1103F missense 0.00001961●●●●●●
182. 38622673 c.2977G>A p.A993T missense 0.00001960●●●●●●
183. 38622727 c.2923C>T p.R975W missense 0.00001943●●●●●●
184. 38622667 c.2983C>T p.L995F missense 0.00001940●●●●●●
185. 38622660 c.2990C>A p.A997D missense 0.00001915●●●●●●
186. 38645498 c.1595T>G p.F532C missense 0.00001904●●●●●●
187. 38622745 c.2905G>T p.G969C missense 0.00001893●●●●●●
188. 38646372 c.1366G>A p.V456M missense 0.00001889●●●●●●
189. 38622756 c.2894G>A p.R965H missense 0.00001878●●●●●●
190. 38622646 c.3004C>T p.P1002S missense 0.00001863●●●●●●
191. 38591829 c.6034C>T p.R2012C missense 0.00001844●●●●●●
192. 38591840 c.6023C>T p.P2008L missense 0.00001841●●●●●●
193. 38591853 c.6010T>A p.F2004I missense 0.00001834●●●●●●
194. 38645489 c.1604G>A p.R535Q missense 0.00001834●●●●●●
195. 38591865 c.5998G>T p.D2000Y missense 0.00001827●●●●●●
196. 38620930 c.3285G>T p.W1095C missense 0.00001821●●●●●●
197. 38628904 c.2423G>A p.R808H missense 0.00001777●●●●●●
198. 38591946 c.5917T>C p.F1973L missense 0.00001774●●●●●●
199. 38655249 c.688A>G p.I230V missense 0.00001763●●●●●●
200. 38627528 c.2441G>A p.R814Q missense 0.00001762●●●●●●
201. 38622816 c.2834A>G p.D945G missense 0.00001746●●●●●●
202. 38628913 c.2414C>T p.S805L missense 0.00001730●●●●●●
203. 38592018 c.5845G>A p.A1949T missense 0.00001716●●●●●●
204. 38628928 c.2399G>A p.R800H missense 0.00001700●●●●●●
205. 38622460 c.3190_3192delGAG p.Glu1064del inframe 0.00001699●●●●●●
206. 38593046 c.4817C>T p.T1606I missense 0.00001698●●●●●●
207. 38646317 c.1421G>A p.R474K missense 0.00001697●●●●●●
208. 38628929 c.2398C>T p.R800C missense 0.00001695●●●●●●
209. 38592032 c.5831G>A p.R1944Q missense 0.00001694●●●●●●
210. 38639444 c.2038C>T p.R680C missense 0.00001693●●●●●●
211. 38601898 c.3985G>A p.G1329S missense 0.00001693●●●●●●
212. 38646224 c.1514C>A p.A505E missense 0.00001689●●●●●●
213. 38674690 c.109A>G p.T37A missense 0.00001686●●●●●●
214. 38640493 c.1939G>T p.A647S missense 0.00001686●●●●●●
215. 38601722 c.4161G>C p.L1387F missense 0.00001684●●●●●●
216. 38593037 c.4826C>T p.S1609L missense 0.00001680●●●●●●
217. 38651246 c.913G>A p.D305N missense 0.00001678●●●●●●
218. 38674756 c.43A>G p.R15G missense 0.00001675●●●●●●
219. 38592060 c.5803G>A p.G1935S missense 0.00001673●●●●●●
220. 38647483 c.1297C>T p.R433C missense 0.00001668●●●●●●
221. 38595794 c.4789G>A p.V1597M missense 0.00001667●●●●●●
222. 38645439 c.1654G>C p.G552R missense 0.00001667●●●●●●
223. 38645439 c.1654G>T p.G552W missense 0.00001667●●●●●●
224. 38640430 c.2002G>A p.V668I missense 0.00001665●●●●●●
225. 38640439 c.1993G>T p.A665S missense 0.00001665●●●●●●
226. 38674719 c.80G>T p.R27L missense 0.00001665●●●●●●
227. 38651262 c.897G>C p.L299F missense 0.00001665●●●●●●
228. 38674717 c.82A>T p.M28L missense 0.00001664●●●●●●
229. 38639417 c.2065C>T p.R689C missense 0.00001664●●●●●●
230. 38592078 c.5785C>T p.R1929C missense 0.00001661●●●●●●
231. 38648255 c.1045G>A p.D349N missense 0.00001661●●●●●●
232. 38639246 c.2236G>A p.E746K missense 0.00001661●●●●●●
233. 38645424 c.1669C>T p.H557Y missense 0.00001661●●●●●●
234. 38645351 c.1742C>T p.S581L missense 0.00001661●●●●●●
235. 38651285 c.874G>A p.G292S missense 0.00001659●●●●●●
236. 38622467 c.3183A>C p.E1061D missense 0.00001659●●●●●●
237. 38645387 c.1706G>A p.R569Q missense 0.00001659●●●●●●
238. 38639404 c.2078G>A p.R693H missense 0.00001658●●●●●●
239. 38645381 c.1712G>T p.S571I missense 0.00001658●●●●●●
240. 38629013 c.2314G>A p.D772N missense 0.00001658●●●●●●
241. 38629040 c.2287G>A p.E763K missense 0.00001658●●●●●●
242. 38651372 c.787G>A p.V263I missense 0.00001657●●●●●●
243. 38651314 c.845G>A p.R282H missense 0.00001657●●●●●●
244. 38647543 c.1237G>A p.A413T missense 0.00001657●●●●●●
245. 38592173 c.5690G>A p.R1897Q missense 0.00001656●●●●●●
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496. 38647570 c.1210C>G p.L404V missense 0.00000828●●●●●●
497. 38608058 c.3682T>C p.Y1228H missense 0.00000828●●●●●●
498. 38592239 c.5624T>A p.M1875K missense 0.00000828●●●●●●
499. 38649651 c.989C>T p.S330F missense 0.00000828●●●●●●
500. 38592107 c.5756G>A p.R1919H missense 0.00000828●●●●●●
501. 38592474 c.5389A>G p.I1797V missense 0.00000828●●●●●●
502. 38595884 c.4699T>C p.F1567L missense 0.00000828●●●●●●
503. 38592113 c.5750T>C p.L1917P missense 0.00000828●●●●●●
504. 38639311 c.2171C>T p.T724I missense 0.00000828●●●●●●
505. 38592339 c.5524A>G p.M1842V missense 0.00000828●●●●●●
506. 38592141 c.5722A>G p.I1908V missense 0.00000828●●●●●●
507. 38647537 c.1243G>A p.A415T missense 0.00000828●●●●●●
508. 38671892 c.302C>T p.T101I missense 0.00000828●●●●●●
509. 38671838 c.356C>T p.P119L missense 0.00000828●●●●●●
510. 38671867 c.327C>A p.N109K missense 0.00000828●●●●●●
511. 38651357 c.802G>A p.G268S missense 0.00000828●●●●●●
512. 38647533 c.1247A>G p.Y416C missense 0.00000828●●●●●●
513. 38592308 c.5555A>T p.D1852V missense 0.00000828●●●●●●
514. 38649691 c.949A>G p.K317E missense 0.00000828●●●●●●
515. 38595932 c.4651G>A p.D1551N missense 0.00000828●●●●●●
516. 38592120 c.5743C>T p.H1915Y missense 0.00000828●●●●●●
517. 38639328 c.2154T>G p.F718L missense 0.00000828●●●●●●
518. 38608057 c.3683A>G p.Y1228C missense 0.00000828●●●●●●
519. 38639332 c.2150C>T p.P717L missense 0.00000828●●●●●●
520. 38651375 c.784A>G p.S262G missense 0.00000828●●●●●●
521. 38598751 c.4270A>G p.I1424V missense 0.00000828●●●●●●
522. 38592415 c.5448C>G p.D1816E missense 0.00000828●●●●●●
523. 38595997 c.4586C>T p.A1529V missense 0.00000828●●●●●●
524. 38592179 c.5684C>T p.T1895I missense 0.00000828●●●●●●
525. 38671911 c.283G>C p.V95L missense 0.00000828●●●●●●
526. 38592339 c.5524A>T p.M1842L missense 0.00000828●●●●●●
527. 38671859 c.335A>G p.Y112C missense 0.00000828●●●●●●
528. 38651426 c.733C>A p.Q245K missense 0.00000828●●●●●●
529. 38651362 c.797T>A p.L266H missense 0.00000828●●●●●●
530. 38671820 c.374T>G p.V125G missense 0.00000828●●●●●●
531. 38592324 c.5539C>T p.R1847C missense 0.00000828●●●●●●
532. 38595914 c.4669A>G p.I1557V missense 0.00000828●●●●●●
533. 38592120 c.5743C>A p.H1915N missense 0.00000828●●●●●●
534. 38647551 c.1229C>T p.A410V missense 0.00000828●●●●●●
535. 38595956 c.4627G>C p.V1543L missense 0.00000828●●●●●●
536. 38639278 c.2204C>T p.A735V missense 0.00000828●●●●●●
537. 38598754 c.4267G>C p.D1423H missense 0.00000828●●●●●●
538. 38592436 c.5427T>G p.I1809M missense 0.00000828●●●●●●
539. 38601760 c.4123T>C p.Y1375H missense 0.00000828●●●●●●
540. 38649646 c.994G>A p.A332T missense 0.00000828●●●●●●
541. 38592488 c.5375A>T p.D1792V missense 0.00000827●●●●●●
542. 38593007 c.4856C>A p.P1619Q missense 0.00000827●●●●●●
543. 38593013 c.4850_4852delTCT inframe 0.00000827●●●●●●
544. 38597154 c.4535G>T p.R1512L missense 0.00000826●●●●●●
545. 38601871 c.4012C>G p.L1338V missense 0.00000826●●●●●●
546. 38627297 c.2672T>C p.I891T missense 0.00000826●●●●●●
547. 38627292 c.2677C>T p.R893C missense 0.00000826●●●●●●
548. 38627297 c.2672T>A p.I891N missense 0.00000826●●●●●●
549. 38592675 c.5188C>G p.P1730A missense 0.00000826●●●●●●
550. 38627286 c.2683C>T p.L895F missense 0.00000826●●●●●●
551. 38592647 c.5216G>A p.R1739Q missense 0.00000826●●●●●●
552. 38593004 c.4859C>T p.T1620M missense 0.00000826●●●●●●
553. 38592651 c.5212T>A p.S1738T missense 0.00000826●●●●●●
554. 38592678 c.5185G>A p.D1729N missense 0.00000826●●●●●●
555. 38627287 c.2682C>G p.I894M missense 0.00000826●●●●●●
556. 38627352 c.2617T>G p.S873A missense 0.00000825●●●●●●
557. 38592709 c.5154C>A p.S1718R missense 0.00000825●●●●●●
558. 38627446 c.2523C>A p.N841K missense 0.00000825●●●●●●
559. 38627373 c.2596T>C p.S866P missense 0.00000825●●●●●●
560. 38627463 c.2506G>A p.V836M missense 0.00000825●●●●●●
561. 38601786 c.4097A>G p.Q1366R missense 0.00000825●●●●●●
562. 38592551 c.5312T>C p.I1771T missense 0.00000825●●●●●●
563. 38601785 c.4098G>T p.Q1366H missense 0.00000825●●●●●●
564. 38627416 c.2553C>A p.F851L missense 0.00000825●●●●●●
565. 38627397 c.2572A>T p.M858L missense 0.00000825●●●●●●
566. 38627348 c.2621G>A p.G874D missense 0.00000825●●●●●●
567. 38627362 c.2607G>C p.R869S missense 0.00000825●●●●●●
568. 38608005 c.3735G>A p.M1245I missense 0.00000825●●●●●●
569. 38627399 c.2570G>A p.G857D missense 0.00000825●●●●●●
570. 38607948 c.3792G>C p.K1264N missense 0.00000824●●●●●●
571. 38592836 c.5027T>C p.M1676T missense 0.00000824●●●●●●
572. 38592795 c.5068_5070delGAC p.Asp1690del inframe 0.00000824●●●●●●
573. 38601807 c.4076A>T p.K1359M missense 0.00000824●●●●●●
574. 38592734 c.5129C>T p.S1710L missense 0.00000824●●●●●●
575. 38592821 c.5042A>T p.Y1681F missense 0.00000824●●●●●●
576. 38597240 c.4449G>C p.Q1483H missense 0.00000824●●●●●●
577. 38607977 c.3763C>A p.L1255M missense 0.00000824●●●●●●
578. 38592860 c.5003T>C p.M1668T missense 0.00000824●●●●●●
579. 38601835 c.4048A>C p.I1350L missense 0.00000824●●●●●●
580. 38592968 c.4895G>A p.R1632H missense 0.00000824●●●●●●
581. 38592760 c.5103G>T p.M1701I missense 0.00000824●●●●●●
582. 38597164 c.4525C>A p.P1509T missense 0.00000824●●●●●●
583. 38592947 c.4916G>C p.G1639A missense 0.00000824●●●●●●
584. 38592932 c.4931G>T p.R1644L missense 0.00000824●●●●●●
585. 38592771 c.5092G>A p.A1698T missense 0.00000824●●●●●●
586. 38592798 c.5065G>A p.D1689N missense 0.00000824●●●●●●
587. 38607921 c.3819G>T p.W1273C missense 0.00000824●●●●●●
588. 38601797 c.4086G>T p.R1362S missense 0.00000824●●●●●●
589. 38592587 c.5276C>G p.S1759C missense 0.00000824●●●●●●
590. 38597172 c.4517C>T p.P1506L missense 0.00000824●●●●●●
591. 38592737 c.5126C>T p.T1709M missense 0.00000824●●●●●●
592. 38607934 c.3806A>G p.N1269S 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.