SOS1 missense variants in ExAC

SOS1 gene summary
SOS1 variants in

The table below lists the SOS1 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. 39241107 c.1964C>T p.P655L missense 0.00792972●●●●●●
2. 39240646 c.2122G>A p.A708T missense 0.00536295●●●●●●
3. 39224112 c.3032A>G p.N1011S missense 0.00190042●●●●●●
4. 39239286 c.2371C>A p.L791I missense 0.00065150●●●●●●
5. 39281922 c.553A>G p.I185V missense 0.00033946●●●●●●
6. 39249864 c.1705C>G p.L569V missense 0.00032136●●●●●●
7. 39240612 c.2156G>C p.G719A missense 0.00030551●●●●●●
8. 39347491 c.73C>T p.P25S missense 0.00025536●●●●●●
9. 39278400 c.749T>C p.V250A missense 0.00019780●●●●●●
10. 39294873 c.109A>G p.T37A missense 0.00017319●●●●●●
11. 39213367 c.3600C>G p.D1200E missense 0.00015666●●●●●●
12. 39222341 c.3269C>T p.P1090L missense 0.00015656●●●●●●
13. 39213021 c.3946C>G p.H1316D missense 0.00014004●●●●●●
14. 39285926 c.233T>G p.F78C missense 0.00012429●●●●●●
15. 39262409 c.1018C>T p.P340S missense 0.00011753●●●●●●
16. 39240603 c.2165G>A p.R722K missense 0.00011565●●●●●●
17. 39262577 c.929G>A p.R310H missense 0.00009922●●●●●●
18. 39222324 c.3286T>A p.S1096T missense 0.00009890●●●●●●
19. 39249797 c.1772A>G p.N591S missense 0.00009077●●●●●●
20. 39213258 c.3709C>A p.P1237T missense 0.00009068●●●●●●
21. 39213258 c.3709C>G p.P1237A missense 0.00008244●●●●●●
22. 39234258 c.2587C>A p.Q863K missense 0.00008243●●●●●●
23. 39213309 c.3658G>A p.V1220M missense 0.00008239●●●●●●
24. 39241061 c.2010G>C p.L670F missense 0.00007472●●●●●●
25. 39294888 c.94G>C p.G32R missense 0.00007429●●●●●●
26. 39278394 c.755T>C p.I252T missense 0.00007417●●●●●●
27. 39281777 c.698A>G p.N233S missense 0.00006673●●●●●●
28. 39294794 c.188A>T p.Q63L missense 0.00006594●●●●●●
29. 39347500 c.64C>G p.L22V missense 0.00006532●●●●●●
30. 39224178 c.2966G>A p.R989K missense 0.00006152●●●●●●
31. 39213369 c.3598G>A p.D1200N missense 0.00005772●●●●●●
32. 39224157 c.2987C>T p.P996L missense 0.00005010●●●●●●
33. 39250079 c.1490G>A p.R497Q missense 0.00004984●●●●●●
34. 39240630 c.2138G>A p.R713Q missense 0.00004952●●●●●●
35. 39285879 c.280A>G p.I94V missense 0.00004952●●●●●●
36. 39213368 c.3599A>C p.D1200A missense 0.00004947●●●●●●
37. 39239432 c.2225T>C p.I742T missense 0.00004125●●●●●●
38. 39222319 c.3291T>G p.S1097R missense 0.00004121●●●●●●
39. 39239345 c.2312T>C p.I771T missense 0.00004120●●●●●●
40. 39347547 c.17T>C p.L6P missense 0.00004087●●●●●●
41. 39214706 c.3418T>A p.L1140I missense 0.00003484●●●●●●
42. 39285915 c.244A>G p.I82V missense 0.00003309●●●●●●
43. 39233616 c.2728G>C p.D910H missense 0.00003304●●●●●●
44. 39281888 c.587C>T p.S196L missense 0.00003303●●●●●●
45. 39213198 c.3769A>G p.T1257A missense 0.00003301●●●●●●
46. 39213367 c.3600C>A p.D1200E missense 0.00003298●●●●●●
47. 39213260 c.3707C>T p.P1236L missense 0.00003297●●●●●●
48. 39213110 c.3857C>T p.S1286F missense 0.00003296●●●●●●
49. 39249849 c.1720G>A p.V574I missense 0.00003296●●●●●●
50. 39347557 c.7G>T p.A3S missense 0.00003133●●●●●●
51. 39213452 c.3515T>C p.M1172T missense 0.00002541●●●●●●
52. 39262417 c.1010A>G p.Y337C missense 0.00002514●●●●●●
53. 39250005 c.1564A>C p.N522H missense 0.00002496●●●●●●
54. 39241954 c.1892A>T p.Y631F missense 0.00002494●●●●●●
55. 39284003 c.350T>G p.V117G missense 0.00002494●●●●●●
56. 39249995 c.1574T>C p.I525T missense 0.00002490●●●●●●
57. 39281832 c.643T>C p.Y215H missense 0.00002478●●●●●●
58. 39281878 c.597A>C p.Q199H missense 0.00002477●●●●●●
59. 39213230 c.3737A>G p.N1246S missense 0.00002475●●●●●●
60. 39222281 c.3329C>T p.S1110L missense 0.00002474●●●●●●
61. 39222288 c.3322G>A p.D1108N missense 0.00002474●●●●●●
62. 39213238 c.3729C>G p.D1243E missense 0.00002474●●●●●●
63. 39239313 c.2344A>G p.I782V missense 0.00002473●●●●●●
64. 39234278 c.2567T>C p.I856T missense 0.00002473●●●●●●
65. 39234274 c.2571G>C p.E857D missense 0.00002473●●●●●●
66. 39213258 c.3709C>T p.P1237S missense 0.00002473●●●●●●
67. 39249895 c.1674G>A p.M558I missense 0.00002472●●●●●●
68. 39249897 c.1672A>G p.M558V missense 0.00002472●●●●●●
69. 39213108 c.3859A>G p.I1287V missense 0.00002472●●●●●●
70. 39214732 c.3392G>A p.R1131K missense 0.00002471●●●●●●
71. 39214682 c.3442C>T p.P1148S missense 0.00002356●●●●●●
72. 39214712 c.3412A>G p.I1138V missense 0.00002330●●●●●●
73. 39347560 c.4C>G p.Q2E missense 0.00002109●●●●●●
74. 39347530 c.34A>G p.S12G missense 0.00002006●●●●●●
75. 39216436 c.3366C>G p.I1122M missense 0.00001680●●●●●●
76. 39285942 c.217C>T p.R73C missense 0.00001676●●●●●●
77. 39262428 c.999A>C p.E333D missense 0.00001674●●●●●●
78. 39250037 c.1532A>G p.K511R missense 0.00001667●●●●●●
79. 39250046 c.1523A>G p.N508S missense 0.00001666●●●●●●
80. 39284001 c.352C>G p.L118V missense 0.00001662●●●●●●
81. 39234332 c.2513G>A p.C838Y missense 0.00001661●●●●●●
82. 39249740 c.1829T>C p.I610T missense 0.00001655●●●●●●
83. 39283971 c.382G>A p.V128I missense 0.00001655●●●●●●
84. 39249749 c.1820T>C p.I607T missense 0.00001654●●●●●●
85. 39262571 c.935T>G p.L312R missense 0.00001653●●●●●●
86. 39262564 c.942G>C p.Q314H missense 0.00001653●●●●●●
87. 39249965 c.1604A>T p.N535I missense 0.00001652●●●●●●
88. 39233618 c.2726A>G p.E909G missense 0.00001652●●●●●●
89. 39240610 c.2158A>G p.T720A missense 0.00001652●●●●●●
90. 39237746 c.2489A>G p.N830S missense 0.00001651●●●●●●
91. 39249782 c.1787C>A p.A596D missense 0.00001651●●●●●●
92. 39237799 c.2436A>C p.E812D missense 0.00001651●●●●●●
93. 39281837 c.638G>A p.R213Q missense 0.00001651●●●●●●
94. 39224067 c.3077G>A p.R1026K missense 0.00001651●●●●●●
95. 39240663 c.2105A>G p.Y702C missense 0.00001650●●●●●●
96. 39249929 c.1640G>A p.R547Q missense 0.00001649●●●●●●
97. 39213245 c.3722A>G p.K1241R missense 0.00001649●●●●●●
98. 39294867 c.115G>A p.E39K missense 0.00001649●●●●●●
99. 39283880 c.473C>T p.T158I missense 0.00001649●●●●●●
100. 39250217 c.1352C>A p.T451K missense 0.00001649●●●●●●
101. 39212982 c.3985A>G p.N1329D missense 0.00001649●●●●●●
102. 39278406 c.743G>A p.R248H missense 0.00001649●●●●●●
103. 39224498 c.2860G>A p.E954K missense 0.00001649●●●●●●
104. 39222353 c.3257C>T p.P1086L missense 0.00001648●●●●●●
105. 39212996 c.3971C>G p.P1324R missense 0.00001648●●●●●●
106. 39294840 c.142G>A p.V48I missense 0.00001648●●●●●●
107. 39213107 c.3860T>C p.I1287T missense 0.00001648●●●●●●
108. 39224472 c.2886G>C p.R962S missense 0.00001648●●●●●●
109. 39213357 c.3610A>G p.I1204V missense 0.00001648●●●●●●
110. 39278376 c.773A>T p.K258M missense 0.00001648●●●●●●
111. 39249903 c.1666G>C p.V556L missense 0.00001648●●●●●●
112. 39213270 c.3697C>T p.L1233F missense 0.00001648●●●●●●
113. 39213305 c.3662G>C p.R1221T missense 0.00001648●●●●●●
114. 39213150 c.3817C>G p.L1273V missense 0.00001648●●●●●●
115. 39294839 c.143T>C p.V48A missense 0.00001648●●●●●●
116. 39224470 c.2888A>G p.K963R missense 0.00001648●●●●●●
117. 39214622 c.3502C>G p.P1168A missense 0.00001368●●●●●●
118. 39214624 c.3500C>T p.S1167L missense 0.00001357●●●●●●
119. 39214634 c.3490G>A p.A1164T missense 0.00001314●●●●●●
120. 39214654 c.3470G>C p.R1157T missense 0.00001256●●●●●●
121. 39214723 c.3401C>T p.S1134F missense 0.00001190●●●●●●
122. 39214679 c.3445G>A p.V1149I missense 0.00001182●●●●●●
123. 39347556 c.8C>T p.A3V missense 0.00001042●●●●●●
124. 39347553 c.11A>G p.Q4R missense 0.00001038●●●●●●
125. 39347503 c.61G>C p.G21R missense 0.00001037●●●●●●
126. 39347544 c.20C>T p.P7L missense 0.00001019●●●●●●
127. 39347541 c.23A>G p.Y8C missense 0.00001014●●●●●●
128. 39347511 c.53A>T p.K18M missense 0.00001006●●●●●●
129. 39347527 c.37G>C p.E13Q missense 0.00001002●●●●●●
130. 39347523 c.41A>G p.E14G missense 0.00000999●●●●●●
131. 39224178 c.2966G>C p.R989T missense 0.00000879●●●●●●
132. 39262376 c.1051C>T p.L351F missense 0.00000869●●●●●●
133. 39251178 c.1175C>G p.S392C missense 0.00000857●●●●●●
134. 39213455 c.3512T>A p.I1171N missense 0.00000854●●●●●●
135. 39224171 c.2973T>G p.F991L missense 0.00000854●●●●●●
136. 39241119 c.1952C>T p.P651L missense 0.00000848●●●●●●
137. 39216452 c.3350A>G p.N1117S missense 0.00000847●●●●●●
138. 39216447 c.3355A>G p.T1119A missense 0.00000844●●●●●●
139. 39224165 c.2979C>G p.N993K missense 0.00000843●●●●●●
140. 39216411 c.3391A>G p.R1131G missense 0.00000841●●●●●●
141. 39281760 c.715G>A p.A239T missense 0.00000840●●●●●●
142. 39213447 c.3520A>C p.K1174Q missense 0.00000839●●●●●●
143. 39216420 c.3382C>T p.H1128Y missense 0.00000839●●●●●●
144. 39262420 c.1007A>G p.Q336R missense 0.00000838●●●●●●
145. 39262427 c.1000G>A p.A334T missense 0.00000837●●●●●●
146. 39262442 c.985G>A p.E329K missense 0.00000837●●●●●●
147. 39262426 c.1001C>T p.A334V missense 0.00000837●●●●●●
148. 39262448 c.979A>G p.I327V missense 0.00000836●●●●●●
149. 39241915 c.1931T>C p.I644T missense 0.00000836●●●●●●
150. 39241096 c.1975G>A p.D659N missense 0.00000835●●●●●●
151. 39213441 c.3526T>A p.L1176M missense 0.00000835●●●●●●
152. 39250029 c.1540T>C p.F514L missense 0.00000834●●●●●●
153. 39281783 c.692T>C p.V231A missense 0.00000833●●●●●●
154. 39213435 c.3532A>C p.S1178R missense 0.00000833●●●●●●
155. 39250047 c.1522A>C p.N508H missense 0.00000833●●●●●●
156. 39241088 c.1983A>G p.I661M missense 0.00000833●●●●●●
157. 39250041 c.1528T>A p.Y510N missense 0.00000833●●●●●●
158. 39250011 c.1558G>A p.D520N missense 0.00000833●●●●●●
159. 39213436 c.3531C>A p.D1177E missense 0.00000833●●●●●●
160. 39241981 c.1865A>G p.N622S missense 0.00000833●●●●●●
161. 39249719 c.1850T>C p.M617T missense 0.00000832●●●●●●
162. 39284007 c.346G>C p.E116Q missense 0.00000832●●●●●●
163. 39249718 c.1851G>T p.M617I missense 0.00000832●●●●●●
164. 39250008 c.1561G>A p.E521K missense 0.00000832●●●●●●
165. 39241082 c.1989A>G p.I663M missense 0.00000832●●●●●●
166. 39284004 c.349G>C p.V117L missense 0.00000831●●●●●●
167. 39224148 c.2996A>G p.N999S missense 0.00000831●●●●●●
168. 39250000 c.1569T>G p.S523R missense 0.00000831●●●●●●
169. 39241072 c.1999G>A p.D667N missense 0.00000831●●●●●●
170. 39283997 c.356G>A p.G119D missense 0.00000831●●●●●●
171. 39250073 c.1496T>C p.V499A missense 0.00000831●●●●●●
172. 39262616 c.890C>T p.S297L missense 0.00000831●●●●●●
173. 39241076 c.1995T>A p.N665K missense 0.00000831●●●●●●
174. 39213432 c.3535C>T p.P1179S missense 0.00000831●●●●●●
175. 39224146 c.2998A>G p.S1000G missense 0.00000830●●●●●●
176. 39224146 c.2998A>T p.S1000C missense 0.00000830●●●●●●
177. 39241014 c.2057A>T p.Q686L missense 0.00000829●●●●●●
178. 39262608 c.898C>G p.R300G missense 0.00000829●●●●●●
179. 39262607 c.899G>A p.R300Q missense 0.00000829●●●●●●
180. 39281920 c.555A>G p.I185M missense 0.00000828●●●●●●
181. 39283977 c.376G>A p.V126I missense 0.00000828●●●●●●
182. 39281927 c.548T>C p.I183T missense 0.00000828●●●●●●
183. 39281808 c.667A>G p.I223V missense 0.00000828●●●●●●
184. 39249741 c.1828A>G p.I610V missense 0.00000828●●●●●●
185. 39250307 c.1262A>T p.K421M missense 0.00000828●●●●●●
186. 39281932 c.543A>C p.E181D missense 0.00000828●●●●●●
187. 39281915 c.560C>A p.S187Y missense 0.00000828●●●●●●
188. 39224560 c.2798A>G p.Y933C missense 0.00000827●●●●●●
189. 39250298 c.1271A>G p.E424G missense 0.00000827●●●●●●
190. 39249755 c.1814C>A p.T605N missense 0.00000827●●●●●●
191. 39285911 c.248A>G p.D83G missense 0.00000827●●●●●●
192. 39262560 c.946T>A p.S316T missense 0.00000827●●●●●●
193. 39250302 c.1267A>G p.N423D missense 0.00000827●●●●●●
194. 39250299 c.1270G>A p.E424K missense 0.00000827●●●●●●
195. 39250300 c.1269C>G p.N423K missense 0.00000827●●●●●●
196. 39234315 c.2530A>C p.N844H missense 0.00000827●●●●●●
197. 39239460 c.2197A>C p.I733L missense 0.00000826●●●●●●
198. 39249776 c.1793T>C p.I598T missense 0.00000826●●●●●●
199. 39224101 c.3043G>A p.E1015K missense 0.00000826●●●●●●
200. 39239451 c.2206A>G p.I736V missense 0.00000826●●●●●●
201. 39233580 c.2764A>G p.I922V missense 0.00000826●●●●●●
202. 39249769 c.1800T>G p.I600M missense 0.00000826●●●●●●
203. 39213387 c.3580C>T p.P1194S missense 0.00000826●●●●●●
204. 39250277 c.1292G>T p.G431V missense 0.00000826●●●●●●
205. 39240607 c.2161G>A p.V721I missense 0.00000826●●●●●●
206. 39224546 c.2812T>G p.L938V missense 0.00000826●●●●●●
207. 39281829 c.646A>T p.I216L missense 0.00000826●●●●●●
208. 39281876 c.599C>G p.T200S missense 0.00000826●●●●●●
209. 39233606 c.2738A>G p.K913R missense 0.00000826●●●●●●
210. 39250283 c.1286T>C p.I429T missense 0.00000826●●●●●●
211. 39240698 c.2070A>C p.L690F missense 0.00000826●●●●●●
212. 39283961 c.392T>C p.V131A missense 0.00000826●●●●●●
213. 39249771 c.1798A>G p.I600V missense 0.00000826●●●●●●
214. 39224086 c.3058A>C p.N1020H missense 0.00000826●●●●●●
215. 39250148 c.1421A>G p.N474S missense 0.00000825●●●●●●
216. 39213209 c.3758C>T p.P1253L missense 0.00000825●●●●●●
217. 39213165 c.3802G>A p.G1268S missense 0.00000825●●●●●●
218. 39285866 c.293A>G p.K98R missense 0.00000825●●●●●●
219. 39249807 c.1762T>C p.F588L missense 0.00000825●●●●●●
220. 39294777 c.205G>C p.D69H missense 0.00000825●●●●●●
221. 39281856 c.619G>A p.A207T missense 0.00000825●●●●●●
222. 39249935 c.1634A>G p.Q545R missense 0.00000825●●●●●●
223. 39213375 c.3592A>G p.I1198V missense 0.00000825●●●●●●
224. 39213220 c.3747C>A p.F1249L missense 0.00000825●●●●●●
225. 39213165 c.3802G>T p.G1268C missense 0.00000825●●●●●●
226. 39278416 c.733A>G p.I245V missense 0.00000825●●●●●●
227. 39234173 c.2672A>G p.E891G missense 0.00000825●●●●●●
228. 39224395 c.2963A>G p.K988R missense 0.00000825●●●●●●
229. 39294783 c.199G>A p.A67T missense 0.00000825●●●●●●
230. 39239418 c.2239G>A p.G747R missense 0.00000825●●●●●●
231. 39249943 c.1626A>G p.I542M missense 0.00000825●●●●●●
232. 39234284 c.2561G>A p.R854Q missense 0.00000825●●●●●●
233. 39213383 c.3584G>T p.R1195L missense 0.00000825●●●●●●
234. 39213227 c.3740C>G p.A1247G missense 0.00000825●●●●●●
235. 39222288 c.3322G>C p.D1108H missense 0.00000825●●●●●●
236. 39234175 c.2670T>A p.F890L missense 0.00000825●●●●●●
237. 39224405 c.2953T>G p.S985A missense 0.00000825●●●●●●
238. 39250137 c.1432C>G p.P478A missense 0.00000825●●●●●●
239. 39239430 c.2227G>C p.A743P missense 0.00000825●●●●●●
240. 39285857 c.302A>G p.N101S missense 0.00000825●●●●●●
241. 39249945 c.1624A>G p.I542V missense 0.00000825●●●●●●
242. 39213372 c.3595T>C p.S1199P missense 0.00000825●●●●●●
243. 39213236 c.3731A>T p.H1244L missense 0.00000825●●●●●●
244. 39240628 c.2140A>G p.M714V missense 0.00000825●●●●●●
245. 39239277 c.2380G>T p.D794Y missense 0.00000825●●●●●●
246. 39234183 c.2662C>T p.H888Y missense 0.00000825●●●●●●
247. 39213366 c.3601C>T p.R1201W missense 0.00000825●●●●●●
248. 39222339 c.3271C>T p.P1091S missense 0.00000824●●●●●●
249. 39250217 c.1352C>G p.T451R missense 0.00000824●●●●●●
250. 39283853 c.500G>A p.C167Y missense 0.00000824●●●●●●
251. 39278412 c.737T>A p.F246Y missense 0.00000824●●●●●●
252. 39222383 c.3227C>A p.T1076K missense 0.00000824●●●●●●
253. 39213161 c.3806C>G p.T1269R missense 0.00000824●●●●●●
254. 39222434 c.3176A>G p.E1059G missense 0.00000824●●●●●●
255. 39239375 c.2282T>G p.V761G missense 0.00000824●●●●●●
256. 39234222 c.2623G>A p.V875I missense 0.00000824●●●●●●
257. 39213129 c.3838C>A p.Q1280K missense 0.00000824●●●●●●
258. 39278364 c.785A>G p.H262R missense 0.00000824●●●●●●
259. 39213261 c.3706C>A p.P1236T missense 0.00000824●●●●●●
260. 39213279 c.3688C>T p.P1230S missense 0.00000824●●●●●●
261. 39213359 c.3608C>G p.S1203C missense 0.00000824●●●●●●
262. 39250231 c.1338G>T p.M446I missense 0.00000824●●●●●●
263. 39250182 c.1387C>G p.L463V missense 0.00000824●●●●●●
264. 39222356 c.3254C>A p.T1085K missense 0.00000824●●●●●●
265. 39213032 c.3935G>C p.R1312T missense 0.00000824●●●●●●
266. 39213011 c.3956T>C p.M1319T missense 0.00000824●●●●●●
267. 39249819 c.1750G>A p.E584K missense 0.00000824●●●●●●
268. 39213321 c.3646C>G p.P1216A missense 0.00000824●●●●●●
269. 39222507 c.3103C>A p.L1035I missense 0.00000824●●●●●●
270. 39222389 c.3221A>G p.E1074G missense 0.00000824●●●●●●
271. 39213254 c.3713T>C p.L1238S missense 0.00000824●●●●●●
272. 39294855 c.127G>C p.D43H missense 0.00000824●●●●●●
273. 39239342 c.2315A>G p.E772G missense 0.00000824●●●●●●
274. 39222320 c.3290G>C p.S1097T missense 0.00000824●●●●●●
275. 39234255 c.2590G>C p.E864Q missense 0.00000824●●●●●●
276. 39224483 c.2875A>G p.S959G missense 0.00000824●●●●●●
277. 39213296 c.3671A>G p.D1224G missense 0.00000824●●●●●●
278. 39222336 c.3274G>A p.A1092T missense 0.00000824●●●●●●
279. 39222372 c.3238C>T p.P1080S missense 0.00000824●●●●●●
280. 39283895 c.458G>A p.R153Q missense 0.00000824●●●●●●
281. 39213062 c.3905T>C p.I1302T missense 0.00000824●●●●●●
282. 39213021 c.3946C>T p.H1316Y missense 0.00000824●●●●●●
283. 39249878 c.1691A>G p.E564G missense 0.00000824●●●●●●
284. 39213349 c.3618C>G p.D1206E missense 0.00000824●●●●●●
285. 39222395 c.3215A>C p.E1072A missense 0.00000824●●●●●●
286. 39294809 c.173T>C p.M58T missense 0.00000824●●●●●●
287. 39222414 c.3196A>G p.S1066G missense 0.00000824●●●●●●
288. 39213246 c.3721A>G p.K1241E missense 0.00000824●●●●●●
289. 39222345 c.3265C>T p.P1089S missense 0.00000824●●●●●●
290. 39222326 c.3284C>A p.A1095D missense 0.00000824●●●●●●
291. 39213131 c.3836C>T p.T1279I missense 0.00000824●●●●●●
292. 39278314 c.835G>A p.V279I missense 0.00000824●●●●●●
293. 39213360 c.3607T>A p.S1203T missense 0.00000824●●●●●●
294. 39249887 c.1682A>G p.E561G missense 0.00000824●●●●●●
295. 39222381 c.3229G>A p.A1077T missense 0.00000824●●●●●●
296. 39239345 c.2312T>G p.I771R missense 0.00000824●●●●●●
297. 39222315 c.3295A>G p.T1099A missense 0.00000824●●●●●●
298. 39213065 c.3902A>G p.H1301R missense 0.00000824●●●●●●
299. 39213023 c.3944C>G p.T1315R missense 0.00000824●●●●●●
300. 39249881 c.1688A>G p.K563R missense 0.00000824●●●●●●
301. 39249909 c.1660C>T p.L554F missense 0.00000824●●●●●●
302. 39278349 c.800T>C p.V267A missense 0.00000824●●●●●●
303. 39213270 c.3697C>A p.L1233I 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.