SCN5A missense variants in ExAC

SCN5A gene summary
SCN5A variants in

The table below lists the SCN5A missense 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. 38645420 c.1673A>G p.H558R missense 0.22173617●●●●●●
2. 38674699 c.100C>T p.R34C missense 0.00946245●●●●●●
3. 38620907 c.3308C>A p.S1103Y missense 0.00799020●●●●●●
4. 38616876 c.3578G>A p.R1193Q missense 0.00621531●●●●●●
5. 38592012 c.5851G>T p.V1951L missense 0.00541198●●●●●●
6. 38645522 c.1571C>A p.S524Y missense 0.00511545●●●●●●
7. 38645378 c.1715C>A p.A572D missense 0.00430377●●●●●●
8. 38591853 c.6010T>C p.F2004L missense 0.00201768●●●●●●
9. 38620946 c.3269C>T p.P1090L missense 0.00171474●●●●●●
10. 38591847 c.6016C>G p.P2006A missense 0.00134075●●●●●●
11. 38646357 c.1381T>G p.L461V missense 0.00116287●●●●●●
12. 38646297 c.1441C>T p.R481W missense 0.00113007●●●●●●
13. 38655278 c.659C>T p.T220I missense 0.00101159●●●●●●
14. 38655290 c.647C>T p.S216L missense 0.00100046●●●●●●
15. 38640418 c.2014G>A p.A672T missense 0.00088993●●●●●●
16. 38647444 c.1336G>A p.E446K missense 0.00072239●●●●●●
17. 38592503 c.5360G>A p.S1787N missense 0.00061197●●●●●●
18. 38645241 c.1852C>T p.L618F missense 0.00057249●●●●●●
19. 38603947 c.3922C>T p.L1308F missense 0.00055339●●●●●●
20. 38662377 c.568C>G p.R190G missense 0.00054606●●●●●●
21. 38603991 c.3878T>C p.F1293S missense 0.00040363●●●●●●
22. 38640465 c.1967C>T p.P656L missense 0.00039225●●●●●●
23. 38662392 c.553G>A p.A185T missense 0.00038490●●●●●●
24. 38622582 c.3068G>A p.R1023H missense 0.00035665●●●●●●
25. 38595989 c.4594G>A p.V1532I missense 0.00033955●●●●●●
26. 38674747 c.52C>T p.R18W missense 0.00032601●●●●●●
27. 38662449 c.496G>A p.A166T missense 0.00032201●●●●●●
28. 38622640 c.3010T>C p.C1004R missense 0.00031447●●●●●●
29. 38655243 c.694G>A p.V232I missense 0.00031192●●●●●●
30. 38591900 c.5963T>G p.L1988R missense 0.00030799●●●●●●
31. 38592408 c.5455G>A p.D1819N missense 0.00030631●●●●●●
32. 38651303 c.856G>T p.A286S missense 0.00029009●●●●●●
33. 38639408 c.2074C>A p.Q692K missense 0.00028223●●●●●●
34. 38607989 c.3751G>A p.V1251M missense 0.00026373●●●●●●
35. 38671821 c.373G>C p.V125L missense 0.00025676●●●●●●
36. 38674719 c.80G>A p.R27H missense 0.00023303●●●●●●
37. 38592356 c.5507T>C p.I1836T missense 0.00023184●●●●●●
38. 38645249 c.1844G>A p.G615E missense 0.00023005●●●●●●
39. 38603958 c.3911C>T p.T1304M missense 0.00022498●●●●●●
40. 38646366 c.1372C>T p.R458C missense 0.00019475●●●●●●
41. 38663937 c.436G>A p.V146M missense 0.00019118●●●●●●
42. 38645379 c.1714G>T p.A572S missense 0.00019073●●●●●●
43. 38645378 c.1715C>T p.A572V missense 0.00019073●●●●●●
44. 38592152 c.5711C>T p.S1904L missense 0.00019045●●●●●●
45. 38620896 c.3319G>A p.E1107K missense 0.00018418●●●●●●
46. 38620868 c.3347G>A p.R1116Q missense 0.00017588●●●●●●
47. 38607905 c.3835G>A p.V1279I missense 0.00016520●●●●●●
48. 38627472 c.2497G>A p.G833R missense 0.00016505●●●●●●
49. 38651264 c.895T>A p.L299M missense 0.00015807●●●●●●
50. 38591978 c.5885C>T p.P1962L missense 0.00015002●●●●●●
51. 38620923 c.3292G>T p.V1098L missense 0.00014761●●●●●●
52. 38616915 c.3539C>T p.A1180V missense 0.00014673●●●●●●
53. 38674696 c.103G>A p.G35S missense 0.00014304●●●●●●
54. 38627199 c.2770G>A p.V924I missense 0.00013737●●●●●●
55. 38655260 c.677C>T p.A226V missense 0.00013493●●●●●●
56. 38608013 c.3727G>A p.D1243N missense 0.00013198●●●●●●
57. 38622661 c.2989G>A p.A997T missense 0.00012477●●●●●●
58. 38622444 c.3206C>T p.T1069M missense 0.00012178●●●●●●
59. 38639416 c.2066G>A p.R689H missense 0.00011647●●●●●●
60. 38645358 c.1735G>A p.G579R missense 0.00011622●●●●●●
61. 38639380 c.2102C>T p.P701L missense 0.00011594●●●●●●
62. 38662376 c.569G>A p.R190Q missense 0.00011308●●●●●●
63. 38645495 c.1598G>A p.R533H missense 0.00011272●●●●●●
64. 38620853 c.3362C>T p.A1121V missense 0.00010451●●●●●●
65. 38616877 c.3577C>T p.R1193W missense 0.00010388●●●●●●
66. 38622493 c.3157G>A p.E1053K missense 0.00009987●●●●●●
67. 38592174 c.5689C>T p.R1897W missense 0.00009936●●●●●●
68. 38622603 c.3047C>T p.T1016M missense 0.00009559●●●●●●
69. 38648281 c.1019G>A p.R340Q missense 0.00009233●●●●●●
70. 38645517 c.1576C>T p.R526C missense 0.00009145●●●●●●
71. 38622706 c.2944T>C p.C982R missense 0.00008792●●●●●●
72. 38592012 c.5851G>A p.V1951M missense 0.00008632●●●●●●
73. 38592212 c.5651C>T p.P1884L missense 0.00008280●●●●●●
74. 38601813 c.4070C>T p.A1357V missense 0.00008240●●●●●●
75. 38620841 c.3374C>G p.A1125G missense 0.00007867●●●●●●
76. 38646398 c.1340C>G p.A447G missense 0.00007533●●●●●●
77. 38622529 c.3121G>A p.D1041N missense 0.00007514●●●●●●
78. 38628962 c.2365G>A p.V789I missense 0.00007501●●●●●●
79. 38674713 c.86C>T p.A29V missense 0.00007486●●●●●●
80. 38592369 c.5494C>G p.Q1832E missense 0.00007452●●●●●●
81. 38601774 c.4109A>G p.D1370G missense 0.00007434●●●●●●
82. 38597155 c.4534C>T p.R1512W missense 0.00007427●●●●●●
83. 38645516 c.1577G>A p.R526H missense 0.00006845●●●●●●
84. 38592068 c.5795C>T p.A1932V missense 0.00006666●●●●●●
85. 38618223 c.3440C>A p.T1147N missense 0.00006652●●●●●●
86. 38595797 c.4786T>A p.F1596I missense 0.00006651●●●●●●
87. 38639368 c.2114C>T p.S705F missense 0.00006624●●●●●●
88. 38592170 c.5693G>A p.R1898H missense 0.00006624●●●●●●
89. 38592986 c.4877G>A p.R1626H missense 0.00006597●●●●●●
90. 38622757 c.2893C>T p.R965C missense 0.00006504●●●●●●
91. 38645535 c.1558A>G p.M520V missense 0.00006381●●●●●●
92. 38645273 c.1820G>T p.G607V missense 0.00006371●●●●●●
93. 38598036 c.4333T>C p.Y1445H missense 0.00006331●●●●●●
94. 38620953 c.3262G>A p.A1088T missense 0.00006309●●●●●●
95. 38646354 c.1384G>A p.E462K missense 0.00006254●●●●●●
96. 38591990 c.5873G>A p.R1958Q missense 0.00006181●●●●●●
97. 38645391 c.1702C>T p.R568C missense 0.00005806●●●●●●
98. 38651420 c.739G>C p.V247L missense 0.00005799●●●●●●
99. 38671919 c.275C>T p.T92I missense 0.00005798●●●●●●
100. 38649685 c.955G>A p.G319S missense 0.00005797●●●●●●
101. 38595908 c.4675A>G p.I1559V missense 0.00005796●●●●●●
102. 38639341 c.2141T>C p.V714A missense 0.00005795●●●●●●
103. 38608000 c.3740C>T p.T1247I missense 0.00005771●●●●●●
104. 38616930 c.3524G>A p.R1175H missense 0.00005767●●●●●●
105. 38620916 c.3299C>T p.A1100V missense 0.00005657●●●●●●
106. 38645204 c.1889C>T p.T630M missense 0.00005657●●●●●●
107. 38618204 c.3459G>C p.Q1153H missense 0.00005455●●●●●●
108. 38647447 c.1333C>G p.H445D missense 0.00005257●●●●●●
109. 38645317 c.1776C>G p.N592K missense 0.00005089●●●●●●
110. 38622570 c.3080G>A p.R1027Q missense 0.00005059●●●●●●
111. 38674776 c.23G>A p.R8Q missense 0.00005051●●●●●●
112. 38622556 c.3094G>A p.E1032K missense 0.00005033●●●●●●
113. 38622532 c.3118G>A p.G1040R missense 0.00005015●●●●●●
114. 38645430 c.1663G>A p.E555K missense 0.00004995●●●●●●
115. 38639411 c.2071G>A p.A691T missense 0.00004985●●●●●●
116. 38647498 c.1282G>A p.E428K missense 0.00004978●●●●●●
117. 38639405 c.2077C>T p.R693C missense 0.00004976●●●●●●
118. 38596016 c.4567G>A p.D1523N missense 0.00004975●●●●●●
119. 38647508 c.1272C>G p.I424M missense 0.00004973●●●●●●
120. 38601865 c.4018G>A p.V1340I missense 0.00004951●●●●●●
121. 38592626 c.5237C>T p.A1746V missense 0.00004950●●●●●●
122. 38601826 c.4057G>A p.V1353M missense 0.00004943●●●●●●
123. 38591828 c.6035G>A p.R2012H missense 0.00004612●●●●●●
124. 38620890 c.3325A>G p.S1109G missense 0.00004581●●●●●●
125. 38616870 c.3584G>A p.R1195H missense 0.00004519●●●●●●
126. 38618271 c.3392C>T p.T1131I missense 0.00004455●●●●●●
127. 38618259 c.3404G>T p.S1135I missense 0.00004450●●●●●●
128. 38645514 c.1579G>A p.G527R missense 0.00004435●●●●●●
129. 38645556 c.1537C>T p.R513C missense 0.00004433●●●●●●
130. 38640531 c.1901C>T p.S634L missense 0.00004418●●●●●●
131. 38662391 c.554C>T p.A185V missense 0.00004341●●●●●●
132. 38618196 c.3467A>G p.D1156G missense 0.00004324●●●●●●
133. 38662376 c.569G>T p.R190L missense 0.00004241●●●●●●
134. 38674755 c.44G>C p.R15T missense 0.00004187●●●●●●
135. 38640472 c.1960G>A p.E654K missense 0.00004178●●●●●●
136. 38645441 c.1652C>T p.A551V missense 0.00004171●●●●●●
137. 38640439 c.1993G>A p.A665T missense 0.00004162●●●●●●
138. 38592093 c.5770G>A p.A1924T missense 0.00004144●●●●●●
139. 38671826 c.368C>T p.A123V missense 0.00004141●●●●●●
140. 38592162 c.5701G>A p.E1901K missense 0.00004140●●●●●●
141. 38608022 c.3718G>C p.E1240Q missense 0.00004127●●●●●●
142. 38622688 c.2962C>T p.R988W missense 0.00003963●●●●●●
143. 38622687 c.2963G>A p.R988Q missense 0.00003947●●●●●●
144. 38616912 c.3542T>C p.V1181A missense 0.00003900●●●●●●
145. 38655282 c.655C>T p.R219C missense 0.00003863●●●●●●
146. 38645218 c.1875G>C p.E625D missense 0.00003739●●●●●●
147. 38620827 c.3388G>A p.E1130K missense 0.00003718●●●●●●
148. 38645238 c.1855C>T p.L619F missense 0.00003699●●●●●●
149. 38591817 c.6046G>A p.V2016M missense 0.00003697●●●●●●
150. 38591856 c.6007G>A p.D2003N missense 0.00003667●●●●●●
151. 38591912 c.5951C>T p.T1984I missense 0.00003603●●●●●●
152. 38622618 c.3032C>T p.P1011L missense 0.00003570●●●●●●
153. 38591972 c.5891C>T p.S1964F missense 0.00003525●●●●●●
154. 38646340 c.1398G>T p.L466F missense 0.00003481●●●●●●
155. 38592003 c.5860G>A p.E1954K missense 0.00003480●●●●●●
156. 38595773 c.4810G>A p.V1604M missense 0.00003419●●●●●●
157. 38601712 c.4171G>A p.G1391R missense 0.00003412●●●●●●
158. 38674671 c.128G>A p.R43Q missense 0.00003401●●●●●●
159. 38674590 c.209A>G p.N70S missense 0.00003383●●●●●●
160. 38640489 c.1943C>T p.P648L missense 0.00003367●●●●●●
161. 38618221 c.3442G>A p.A1148T missense 0.00003348●●●●●●
162. 38640457 c.1975C>T p.R659W missense 0.00003334●●●●●●
163. 38651267 c.892G>A p.G298S missense 0.00003326●●●●●●
164. 38651279 c.880G>A p.V294M missense 0.00003320●●●●●●
165. 38595989 c.4594G>T p.V1532F missense 0.00003313●●●●●●
166. 38671911 c.283G>A p.V95I missense 0.00003313●●●●●●
167. 38592386 c.5477G>A p.R1826H missense 0.00003312●●●●●●
168. 38592125 c.5738G>A p.R1913H missense 0.00003312●●●●●●
169. 38592648 c.5215C>T p.R1739W missense 0.00003306●●●●●●
170. 38592527 c.5336C>T p.T1779M missense 0.00003305●●●●●●
171. 38592566 c.5297T>C p.M1766T missense 0.00003299●●●●●●
172. 38607956 c.3784G>A p.G1262S missense 0.00003296●●●●●●
173. 38592835 c.5028G>A p.M1676I missense 0.00003295●●●●●●
174. 38616792 c.3662C>T p.A1221V missense 0.00003077●●●●●●
175. 38616934 c.3520C>T p.R1174W missense 0.00002983●●●●●●
176. 38616933 c.3521G>A p.R1174Q missense 0.00002954●●●●●●
177. 38655263 c.674G>A p.R225Q missense 0.00002900●●●●●●
178. 38645496 c.1597C>A p.R533S missense 0.00002846●●●●●●
179. 38645234 c.1859G>A p.R620H missense 0.00002784●●●●●●
180. 38598027 c.4342A>C p.I1448L missense 0.00002780●●●●●●
181. 38591835 c.6028A>G p.R2010G missense 0.00002763●●●●●●
182. 38591853 c.6010T>G p.F2004V missense 0.00002751●●●●●●
183. 38591892 c.5971C>T p.R1991W missense 0.00002724●●●●●●
184. 38662409 c.536G>A p.R179Q missense 0.00002722●●●●●●
185. 38663892 c.481G>A p.E161K missense 0.00002693●●●●●●
186. 38591925 c.5938G>T p.V1980F missense 0.00002687●●●●●●
187. 38674553 c.246C>A p.D82E missense 0.00002678●●●●●●
188. 38622619 c.3031C>T p.P1011S missense 0.00002676●●●●●●
189. 38591960 c.5903T>G p.I1968S missense 0.00002652●●●●●●
190. 38591959 c.5904C>G p.I1968M missense 0.00002650●●●●●●
191. 38603919 c.3950T>G p.F1317C missense 0.00002605●●●●●●
192. 38674657 c.142G>A p.E48K missense 0.00002557●●●●●●
193. 38622583 c.3067C>T p.R1023C missense 0.00002549●●●●●●
194. 38603922 c.3947G>A p.R1316Q missense 0.00002548●●●●●●
195. 38674589 c.210T>G p.N70K missense 0.00002538●●●●●●
196. 38674795 c.4G>A p.A2T missense 0.00002537●●●●●●
197. 38646313 c.1425A>C p.R475S missense 0.00002536●●●●●●
198. 38674593 c.206G>A p.G69D missense 0.00002533●●●●●●
199. 38674774 c.25G>A p.G9S missense 0.00002524●●●●●●
200. 38674698 c.101G>A p.R34H missense 0.00002519●●●●●●
201. 38674746 c.53G>A p.R18Q missense 0.00002506●●●●●●
202. 38640451 c.1981C>T p.R661W missense 0.00002500●●●●●●
203. 38622517 c.3133G>A p.V1045M missense 0.00002500●●●●●●
204. 38640448 c.1984G>T p.A662S missense 0.00002499●●●●●●
205. 38674720 c.79C>T p.R27C missense 0.00002497●●●●●●
206. 38648264 c.1036G>A p.E346K missense 0.00002496●●●●●●
207. 38645343 c.1750G>C p.G584R missense 0.00002495●●●●●●
208. 38592077 c.5786G>A p.R1929H missense 0.00002492●●●●●●
209. 38645390 c.1703G>A p.R568H missense 0.00002488●●●●●●
210. 38651294 c.865G>A p.G289S missense 0.00002488●●●●●●
211. 38598739 c.4282G>T p.A1428S missense 0.00002486●●●●●●
212. 38592108 c.5755C>T p.R1919C missense 0.00002485●●●●●●
213. 38595835 c.4748G>A p.R1583H missense 0.00002485●●●●●●
214. 38592171 c.5692C>T p.R1898C missense 0.00002484●●●●●●
215. 38592195 c.5668G>A p.E1890K missense 0.00002484●●●●●●
216. 38592162 c.5701G>C p.E1901Q missense 0.00002484●●●●●●
217. 38592387 c.5476C>T p.R1826C missense 0.00002484●●●●●●
218. 38592381 c.5482G>A p.A1828T missense 0.00002484●●●●●●
219. 38592428 c.5435C>T p.S1812L missense 0.00002484●●●●●●
220. 38608052 c.3688G>A p.E1230K missense 0.00002482●●●●●●
221. 38592489 c.5374G>A p.D1792N missense 0.00002482●●●●●●
222. 38592642 c.5221G>A p.D1741N missense 0.00002479●●●●●●
223. 38592534 c.5329G>A p.V1777M missense 0.00002478●●●●●●
224. 38597154 c.4535G>A p.R1512Q missense 0.00002477●●●●●●
225. 38592885 c.4978A>G p.I1660V missense 0.00002471●●●●●●
226. 38597211 c.4478A>G p.K1493R missense 0.00002471●●●●●●
227. 38592830 c.5033A>G p.N1678S missense 0.00002471●●●●●●
228. 38592825 c.5038G>A p.A1680T missense 0.00002471●●●●●●
229. 38597188 c.4501C>G p.L1501V missense 0.00002471●●●●●●
230. 38592929 c.4934C>T p.T1645M missense 0.00002471●●●●●●
231. 38616898 c.3556G>A p.A1186T missense 0.00002453●●●●●●
232. 38616894 c.3560C>A p.P1187Q missense 0.00002420●●●●●●
233. 38662385 c.560C>G p.T187S missense 0.00002363●●●●●●
234. 38655234 c.703G>A p.G235R missense 0.00002301●●●●●●
235. 38663964 c.409A>G p.I137V missense 0.00002291●●●●●●
236. 38618272 c.3391A>T p.T1131S missense 0.00002228●●●●●●
237. 38618200 c.3463C>T p.P1155S missense 0.00002171●●●●●●
238. 38663919 c.454G>A p.D152N missense 0.00002166●●●●●●
239. 38645509 c.1584C>A p.S528R missense 0.00002158●●●●●●
240. 38646393 c.1345A>G p.T449A missense 0.00002085●●●●●●
241. 38616832 c.3622G>A p.E1208K missense 0.00002030●●●●●●
242. 38645505 c.1588T>G p.F530V missense 0.00002029●●●●●●
243. 38622693 c.2957G>A p.R986Q missense 0.00001975●●●●●●
244. 38645502 c.1591A>G p.T531A missense 0.00001965●●●●●●
245. 38620907 c.3308C>T p.S1103F missense 0.00001961●●●●●●
246. 38622673 c.2977G>A p.A993T missense 0.00001960●●●●●●
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473. 38640487 c.1945T>C p.C649R missense 0.00000840●●●●●●
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479. 38646298 c.1440A>C p.K480N missense 0.00000838●●●●●●
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487. 38645331 c.1762C>A p.H588N missense 0.00000836●●●●●●
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489. 38622541 c.3109G>A p.G1037S missense 0.00000836●●●●●●
490. 38640477 c.1955G>A p.G652D missense 0.00000836●●●●●●
491. 38596039 c.4544A>G p.N1515S missense 0.00000836●●●●●●
492. 38674740 c.59C>T p.S20F missense 0.00000835●●●●●●
493. 38645336 c.1757C>G p.A586G missense 0.00000835●●●●●●
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495. 38592065 c.5798G>T p.G1933V missense 0.00000834●●●●●●
496. 38640456 c.1976G>A p.R659Q missense 0.00000834●●●●●●
497. 38640459 c.1973C>T p.A658V missense 0.00000834●●●●●●
498. 38592065 c.5798G>A p.G1933D missense 0.00000834●●●●●●
499. 38592065 c.5798G>C p.G1933A missense 0.00000834●●●●●●
500. 38601883 c.4000A>G p.I1334V missense 0.00000834●●●●●●
501. 38647483 c.1297C>A p.R433S missense 0.00000834●●●●●●
502. 38646282 c.1456A>G p.T486A missense 0.00000833●●●●●●
503. 38651261 c.898G>A p.V300I missense 0.00000833●●●●●●
504. 38674734 c.65C>T p.A22V missense 0.00000833●●●●●●
505. 38674725 c.74A>G p.E25G missense 0.00000833●●●●●●
506. 38628961 c.2366T>C p.V789A missense 0.00000833●●●●●●
507. 38674726 c.73G>A p.E25K missense 0.00000833●●●●●●
508. 38674732 c.67G>T p.A23S missense 0.00000833●●●●●●
509. 38640421 c.2011A>T p.S671C missense 0.00000832●●●●●●
510. 38648263 c.1037A>G p.E346G missense 0.00000832●●●●●●
511. 38639242 c.2240A>C p.E747A missense 0.00000832●●●●●●
512. 38674716 c.83T>C p.M28T missense 0.00000832●●●●●●
513. 38651266 c.893G>A p.G298D missense 0.00000832●●●●●●
514. 38647627 c.1153G>A p.A385T missense 0.00000832●●●●●●
515. 38622498 c.3152T>C p.V1051A missense 0.00000832●●●●●●
516. 38595796 c.4787T>G p.F1596C missense 0.00000832●●●●●●
517. 38647630 c.1150T>A p.S384T missense 0.00000832●●●●●●
518. 38646269 c.1469G>A p.G490E missense 0.00000832●●●●●●
519. 38647617 c.1163T>G p.I388S missense 0.00000831●●●●●●
520. 38639411 c.2071G>T p.A691S missense 0.00000831●●●●●●
521. 38628977 c.2350T>C p.F784L missense 0.00000831●●●●●●
522. 38601751 c.4132G>A p.V1378M missense 0.00000831●●●●●●
523. 38648258 c.1042C>G p.P348A missense 0.00000831●●●●●●
524. 38645417 c.1676C>G p.T559R missense 0.00000830●●●●●●
525. 38645417 c.1676C>T p.T559I missense 0.00000830●●●●●●
526. 38629052 c.2275A>G p.I759V missense 0.00000830●●●●●●
527. 38601752 c.4131C>G p.I1377M missense 0.00000830●●●●●●
528. 38648249 c.1051G>A p.G351S missense 0.00000830●●●●●●
529. 38651276 c.883G>A p.E295K missense 0.00000830●●●●●●
530. 38645376 c.1717C>G p.Q573E missense 0.00000829●●●●●●
531. 38647507 c.1273G>C p.A425P missense 0.00000829●●●●●●
532. 38596010 c.4573G>A p.V1525M missense 0.00000829●●●●●●
533. 38651296 c.863A>G p.N288S missense 0.00000829●●●●●●
534. 38645384 c.1709C>A p.T570N missense 0.00000829●●●●●●
535. 38645388 c.1705C>T p.R569W missense 0.00000829●●●●●●
536. 38651302 c.857C>T p.A286V missense 0.00000829●●●●●●
537. 38592096 c.5767C>T p.H1923Y missense 0.00000829●●●●●●
538. 38651318 c.841G>A p.V281M missense 0.00000829●●●●●●
539. 38645393 c.1700T>A p.L567Q missense 0.00000829●●●●●●
540. 38639258 c.2224A>G p.T742A missense 0.00000829●●●●●●
541. 38651305 c.854C>A p.T285K missense 0.00000829●●●●●●
542. 38629038 c.2289G>C p.E763D missense 0.00000829●●●●●●
543. 38647574 c.1206C>G p.F402L missense 0.00000829●●●●●●
544. 38595829 c.4754A>G p.Y1585C missense 0.00000828●●●●●●
545. 38592104 c.5759C>G p.S1920C missense 0.00000828●●●●●●
546. 38671892 c.302C>T p.T101I missense 0.00000828●●●●●●
547. 38592246 c.5617A>G p.I1873V missense 0.00000828●●●●●●
548. 38592474 c.5389A>G p.I1797V missense 0.00000828●●●●●●
549. 38671838 c.356C>T p.P119L missense 0.00000828●●●●●●
550. 38651357 c.802G>A p.G268S missense 0.00000828●●●●●●
551. 38671884 c.310C>T p.R104W missense 0.00000828●●●●●●
552. 38592338 c.5525T>C p.M1842T missense 0.00000828●●●●●●
553. 38649691 c.949A>G p.K317E missense 0.00000828●●●●●●
554. 38595920 c.4663G>A p.E1555K missense 0.00000828●●●●●●
555. 38592123 c.5740A>G p.R1914G missense 0.00000828●●●●●●
556. 38595967 c.4616G>A p.C1539Y missense 0.00000828●●●●●●
557. 38651375 c.784A>G p.S262G missense 0.00000828●●●●●●
558. 38592239 c.5624T>A p.M1875K missense 0.00000828●●●●●●
559. 38671859 c.335A>G p.Y112C missense 0.00000828●●●●●●
560. 38595884 c.4699T>C p.F1567L missense 0.00000828●●●●●●
561. 38592113 c.5750T>C p.L1917P missense 0.00000828●●●●●●
562. 38671911 c.283G>C p.V95L missense 0.00000828●●●●●●
563. 38639292 c.2190C>A p.N730K missense 0.00000828●●●●●●
564. 38651362 c.797T>A p.L266H missense 0.00000828●●●●●●
565. 38671867 c.327C>A p.N109K missense 0.00000828●●●●●●
566. 38592339 c.5524A>G p.M1842V missense 0.00000828●●●●●●
567. 38595932 c.4651G>A p.D1551N missense 0.00000828●●●●●●
568. 38592141 c.5722A>G p.I1908V missense 0.00000828●●●●●●
569. 38647537 c.1243G>A p.A415T missense 0.00000828●●●●●●
570. 38647551 c.1229C>T p.A410V missense 0.00000828●●●●●●
571. 38592107 c.5756G>A p.R1919H missense 0.00000828●●●●●●
572. 38608057 c.3683A>G p.Y1228C missense 0.00000828●●●●●●
573. 38592339 c.5524A>T p.M1842L missense 0.00000828●●●●●●
574. 38639332 c.2150C>T p.P717L missense 0.00000828●●●●●●
575. 38608058 c.3682T>C p.Y1228H missense 0.00000828●●●●●●
576. 38651426 c.733C>A p.Q245K missense 0.00000828●●●●●●
577. 38647533 c.1247A>G p.Y416C missense 0.00000828●●●●●●
578. 38592308 c.5555A>T p.D1852V missense 0.00000828●●●●●●
579. 38649646 c.994G>A p.A332T missense 0.00000828●●●●●●
580. 38671877 c.317G>C p.S106T missense 0.00000828●●●●●●
581. 38592120 c.5743C>T p.H1915Y missense 0.00000828●●●●●●
582. 38639311 c.2171C>T p.T724I missense 0.00000828●●●●●●
583. 38651365 c.794C>T p.A265V missense 0.00000828●●●●●●
584. 38598751 c.4270A>G p.I1424V missense 0.00000828●●●●●●
585. 38592415 c.5448C>G p.D1816E missense 0.00000828●●●●●●
586. 38671820 c.374T>G p.V125G missense 0.00000828●●●●●●
587. 38647570 c.1210C>G p.L404V missense 0.00000828●●●●●●
588. 38595997 c.4586C>T p.A1529V missense 0.00000828●●●●●●
589. 38592179 c.5684C>T p.T1895I missense 0.00000828●●●●●●
590. 38595956 c.4627G>C p.V1543L missense 0.00000828●●●●●●
591. 38639278 c.2204C>T p.A735V missense 0.00000828●●●●●●
592. 38601760 c.4123T>C p.Y1375H missense 0.00000828●●●●●●
593. 38592324 c.5539C>T p.R1847C missense 0.00000828●●●●●●
594. 38649651 c.989C>T p.S330F missense 0.00000828●●●●●●
595. 38595914 c.4669A>G p.I1557V missense 0.00000828●●●●●●
596. 38592120 c.5743C>A p.H1915N missense 0.00000828●●●●●●
597. 38639328 c.2154T>G p.F718L missense 0.00000828●●●●●●
598. 38598754 c.4267G>C p.D1423H missense 0.00000828●●●●●●
599. 38592436 c.5427T>G p.I1809M missense 0.00000828●●●●●●
600. 38592396 c.5467G>A p.E1823K missense 0.00000828●●●●●●
601. 38592488 c.5375A>T p.D1792V missense 0.00000827●●●●●●
602. 38593007 c.4856C>A p.P1619Q missense 0.00000827●●●●●●
603. 38601871 c.4012C>G p.L1338V missense 0.00000826●●●●●●
604. 38592647 c.5216G>A p.R1739Q missense 0.00000826●●●●●●
605. 38627287 c.2682C>G p.I894M missense 0.00000826●●●●●●
606. 38597154 c.4535G>T p.R1512L missense 0.00000826●●●●●●
607. 38627292 c.2677C>T p.R893C missense 0.00000826●●●●●●
608. 38627297 c.2672T>C p.I891T missense 0.00000826●●●●●●
609. 38592675 c.5188C>G p.P1730A missense 0.00000826●●●●●●
610. 38592651 c.5212T>A p.S1738T missense 0.00000826●●●●●●
611. 38627297 c.2672T>A p.I891N missense 0.00000826●●●●●●
612. 38593004 c.4859C>T p.T1620M missense 0.00000826●●●●●●
613. 38592678 c.5185G>A p.D1729N missense 0.00000826●●●●●●
614. 38627286 c.2683C>T p.L895F missense 0.00000826●●●●●●
615. 38627348 c.2621G>A p.G874D missense 0.00000825●●●●●●
616. 38592709 c.5154C>A p.S1718R missense 0.00000825●●●●●●
617. 38627399 c.2570G>A p.G857D missense 0.00000825●●●●●●
618. 38627352 c.2617T>G p.S873A missense 0.00000825●●●●●●
619. 38627446 c.2523C>A p.N841K missense 0.00000825●●●●●●
620. 38601786 c.4097A>G p.Q1366R missense 0.00000825●●●●●●
621. 38592551 c.5312T>C p.I1771T missense 0.00000825●●●●●●
622. 38627373 c.2596T>C p.S866P missense 0.00000825●●●●●●
623. 38601785 c.4098G>T p.Q1366H missense 0.00000825●●●●●●
624. 38627463 c.2506G>A p.V836M missense 0.00000825●●●●●●
625. 38608005 c.3735G>A p.M1245I missense 0.00000825●●●●●●
626. 38627397 c.2572A>T p.M858L missense 0.00000825●●●●●●
627. 38627362 c.2607G>C p.R869S missense 0.00000825●●●●●●
628. 38627416 c.2553C>A p.F851L missense 0.00000825●●●●●●
629. 38592836 c.5027T>C p.M1676T missense 0.00000824●●●●●●
630. 38592821 c.5042A>T p.Y1681F missense 0.00000824●●●●●●
631. 38607948 c.3792G>C p.K1264N missense 0.00000824●●●●●●
632. 38601807 c.4076A>T p.K1359M missense 0.00000824●●●●●●
633. 38597240 c.4449G>C p.Q1483H missense 0.00000824●●●●●●
634. 38592734 c.5129C>T p.S1710L missense 0.00000824●●●●●●
635. 38592947 c.4916G>C p.G1639A missense 0.00000824●●●●●●
636. 38607977 c.3763C>A p.L1255M missense 0.00000824●●●●●●
637. 38592860 c.5003T>C p.M1668T missense 0.00000824●●●●●●
638. 38601835 c.4048A>C p.I1350L missense 0.00000824●●●●●●
639. 38607934 c.3806A>G p.N1269S missense 0.00000824●●●●●●
640. 38592760 c.5103G>T p.M1701I missense 0.00000824●●●●●●
641. 38597164 c.4525C>A p.P1509T missense 0.00000824●●●●●●
642. 38592968 c.4895G>A p.R1632H missense 0.00000824●●●●●●
643. 38592932 c.4931G>T p.R1644L missense 0.00000824●●●●●●
644. 38592771 c.5092G>A p.A1698T missense 0.00000824●●●●●●
645. 38592798 c.5065G>A p.D1689N missense 0.00000824●●●●●●
646. 38607921 c.3819G>T p.W1273C missense 0.00000824●●●●●●
647. 38601797 c.4086G>T p.R1362S missense 0.00000824●●●●●●
648. 38592587 c.5276C>G p.S1759C missense 0.00000824●●●●●●
649. 38597172 c.4517C>T p.P1506L missense 0.00000824●●●●●●
650. 38592737 c.5126C>T p.T1709M 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.