SOS1 variants in ExAC

SOS1 gene summary
SOS1 variants in

The table below lists the SOS1 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. 39262348 c.1074+5G>C splice site 0.00978584●●●●●●
2. 39241107 c.1964C>T p.P655L missense 0.00792972●●●●●●
3. 39240646 c.2122G>A p.A708T missense 0.00536295●●●●●●
4. 39224112 c.3032A>G p.N1011S missense 0.00190042●●●●●●
5. 39240595 c.2167+6T>G splice site 0.00148839●●●●●●
6. 39216404 c.3391+7A>G splice site 0.00079249●●●●●●
7. 39239286 c.2371C>A p.L791I missense 0.00065150●●●●●●
8. 39281922 c.553A>G p.I185V missense 0.00033946●●●●●●
9. 39249864 c.1705C>G p.L569V missense 0.00032136●●●●●●
10. 39240612 c.2156G>C p.G719A missense 0.00030551●●●●●●
11. 39347468 c.87+9C>T splice site 0.00029098●●●●●●
12. 39347491 c.73C>T p.P25S missense 0.00025536●●●●●●
13. 39278400 c.749T>C p.V250A missense 0.00019780●●●●●●
14. 39294873 c.109A>G p.T37A missense 0.00017319●●●●●●
15. 39213367 c.3600C>G p.D1200E missense 0.00015666●●●●●●
16. 39222341 c.3269C>T p.P1090L missense 0.00015656●●●●●●
17. 39213021 c.3946C>G p.H1316D missense 0.00014004●●●●●●
18. 39233679 c.2674-9dupT splice site 0.00013342●●●●●●
19. 39216456 c.3347-1G>A essential splice site 0.00012776●●●●●●
20. 39285926 c.233T>G p.F78C missense 0.00012429●●●●●●
21. 39262409 c.1018C>T p.P340S missense 0.00011753●●●●●●
22. 39240603 c.2165G>A p.R722K missense 0.00011565●●●●●●
23. 39262577 c.929G>A p.R310H missense 0.00009922●●●●●●
24. 39222324 c.3286T>A p.S1096T missense 0.00009890●●●●●●
25. 39249797 c.1772A>G p.N591S missense 0.00009077●●●●●●
26. 39213258 c.3709C>A p.P1237T missense 0.00009068●●●●●●
27. 39213258 c.3709C>G p.P1237A missense 0.00008244●●●●●●
28. 39283834 c.510+9C>G splice site 0.00008244●●●●●●
29. 39234258 c.2587C>A p.Q863K missense 0.00008243●●●●●●
30. 39213309 c.3658G>A p.V1220M missense 0.00008239●●●●●●
31. 39241061 c.2010G>C p.L670F missense 0.00007472●●●●●●
32. 39294888 c.94G>C p.G32R missense 0.00007429●●●●●●
33. 39278394 c.755T>C p.I252T missense 0.00007417●●●●●●
34. 39216458 c.3347-3C>T splice site 0.00006840●●●●●●
35. 39281777 c.698A>G p.N233S missense 0.00006673●●●●●●
36. 39294794 c.188A>T p.Q63L missense 0.00006594●●●●●●
37. 39347500 c.64C>G p.L22V missense 0.00006532●●●●●●
38. 39224178 c.2966G>A p.R989K missense 0.00006152●●●●●●
39. 39213369 c.3598G>A p.D1200N missense 0.00005772●●●●●●
40. 39224157 c.2987C>T p.P996L missense 0.00005010●●●●●●
41. 39250079 c.1490G>A p.R497Q missense 0.00004984●●●●●●
42. 39285879 c.280A>G p.I94V missense 0.00004952●●●●●●
43. 39240630 c.2138G>A p.R713Q missense 0.00004952●●●●●●
44. 39213368 c.3599A>C p.D1200A missense 0.00004947●●●●●●
45. 39347600 c.-37C>A splice site 0.00004510●●●●●●
46. 39216408 c.3391+3T>C splice site 0.00004210●●●●●●
47. 39239432 c.2225T>C p.I742T missense 0.00004125●●●●●●
48. 39222319 c.3291T>G p.S1097R missense 0.00004121●●●●●●
49. 39239345 c.2312T>C p.I771T missense 0.00004120●●●●●●
50. 39347547 c.17T>C p.L6P missense 0.00004087●●●●●●
51. 39347471 c.87+6G>T splice site 0.00003707●●●●●●
52. 39214706 c.3418T>A p.L1140I missense 0.00003484●●●●●●
53. 39216461 c.3347-6T>C splice site 0.00003451●●●●●●
54. 39285915 c.244A>G p.I82V missense 0.00003309●●●●●●
55. 39233616 c.2728G>C p.D910H missense 0.00003304●●●●●●
56. 39281888 c.587C>T p.S196L missense 0.00003303●●●●●●
57. 39285807 c.345+7C>T splice site 0.00003301●●●●●●
58. 39213198 c.3769A>G p.T1257A missense 0.00003301●●●●●●
59. 39213367 c.3600C>A p.D1200E missense 0.00003298●●●●●●
60. 39213260 c.3707C>T p.P1236L missense 0.00003297●●●●●●
61. 39213110 c.3857C>T p.S1286F missense 0.00003296●●●●●●
62. 39249849 c.1720G>A p.V574I missense 0.00003296●●●●●●
63. 39347557 c.7G>T p.A3S missense 0.00003133●●●●●●
64. 39213452 c.3515T>C p.M1172T missense 0.00002541●●●●●●
65. 39216402 c.3391+9A>T splice site 0.00002532●●●●●●
66. 39216403 c.3391+8T>C splice site 0.00002530●●●●●●
67. 39216408 c.3391+3_3391+6delTAGT splice site 0.00002529●●●●●●
68. 39262417 c.1010A>G p.Y337C missense 0.00002514●●●●●●
69. 39250005 c.1564A>C p.N522H missense 0.00002496●●●●●●
70. 39241954 c.1892A>T p.Y631F missense 0.00002494●●●●●●
71. 39284003 c.350T>G p.V117G missense 0.00002494●●●●●●
72. 39249995 c.1574T>C p.I525T missense 0.00002490●●●●●●
73. 39241009 c.2062C>A p.R688R splice site 0.00002489●●●●●●
74. 39233543 c.2791+10_2791+11insTTT splice site 0.00002487●●●●●●
75. 39281832 c.643T>C p.Y215H missense 0.00002478●●●●●●
76. 39281878 c.597A>C p.Q199H missense 0.00002477●●●●●●
77. 39213230 c.3737A>G p.N1246S missense 0.00002475●●●●●●
78. 39222288 c.3322G>A p.D1108N missense 0.00002474●●●●●●
79. 39222281 c.3329C>T p.S1110L missense 0.00002474●●●●●●
80. 39213238 c.3729C>G p.D1243E missense 0.00002474●●●●●●
81. 39239313 c.2344A>G p.I782V missense 0.00002473●●●●●●
82. 39234278 c.2567T>C p.I856T missense 0.00002473●●●●●●
83. 39213258 c.3709C>T p.P1237S missense 0.00002473●●●●●●
84. 39234274 c.2571G>C p.E857D missense 0.00002473●●●●●●
85. 39249897 c.1672A>G p.M558V missense 0.00002472●●●●●●
86. 39213108 c.3859A>G p.I1287V missense 0.00002472●●●●●●
87. 39249895 c.1674G>A p.M558I missense 0.00002472●●●●●●
88. 39214732 c.3392G>A p.R1131K missense 0.00002471●●●●●●
89. 39214682 c.3442C>T p.P1148S missense 0.00002356●●●●●●
90. 39214712 c.3412A>G p.I1138V missense 0.00002330●●●●●●
91. 39347560 c.4C>G p.Q2E missense 0.00002109●●●●●●
92. 39347530 c.34A>G p.S12G missense 0.00002006●●●●●●
93. 39216436 c.3366C>G p.I1122M missense 0.00001680●●●●●●
94. 39285943 c.216A>G p.E72E splice site 0.00001678●●●●●●
95. 39285942 c.217C>T p.R73C missense 0.00001676●●●●●●
96. 0 c.-38-6C>T splice site 0.00001675●●●●●●
97. 39262428 c.999A>C p.E333D missense 0.00001674●●●●●●
98. 39241990 c.1859-3T>C splice site 0.00001669●●●●●●
99. 39250037 c.1532A>G p.K511R missense 0.00001667●●●●●●
100. 39250046 c.1523A>G p.N508S missense 0.00001666●●●●●●
101. 39284001 c.352C>G p.L118V missense 0.00001662●●●●●●
102. 39234332 c.2513G>A p.C838Y missense 0.00001661●●●●●●
103. 39233546 c.2791+7_2791+10delATTT splice site 0.00001658●●●●●●
104. 39283971 c.382G>A p.V128I missense 0.00001655●●●●●●
105. 39249740 c.1829T>C p.I610T missense 0.00001655●●●●●●
106. 39249749 c.1820T>C p.I607T missense 0.00001654●●●●●●
107. 39262571 c.935T>G p.L312R missense 0.00001653●●●●●●
108. 39262564 c.942G>C p.Q314H missense 0.00001653●●●●●●
109. 39233618 c.2726A>G p.E909G missense 0.00001652●●●●●●
110. 39240610 c.2158A>G p.T720A missense 0.00001652●●●●●●
111. 39249965 c.1604A>T p.N535I missense 0.00001652●●●●●●
112. 39237746 c.2489A>G p.N830S missense 0.00001651●●●●●●
113. 39281837 c.638G>A p.R213Q missense 0.00001651●●●●●●
114. 39224067 c.3077G>A p.R1026K missense 0.00001651●●●●●●
115. 39249782 c.1787C>A p.A596D missense 0.00001651●●●●●●
116. 39237799 c.2436A>C p.E812D missense 0.00001651●●●●●●
117. 39294760 c.213+9A>G splice site 0.00001651●●●●●●
118. 39240663 c.2105A>G p.Y702C missense 0.00001650●●●●●●
119. 39212982 c.3985A>G p.N1329D missense 0.00001649●●●●●●
120. 39283880 c.473C>T p.T158I missense 0.00001649●●●●●●
121. 39249929 c.1640G>A p.R547Q missense 0.00001649●●●●●●
122. 39294867 c.115G>A p.E39K missense 0.00001649●●●●●●
123. 39250217 c.1352C>A p.T451K missense 0.00001649●●●●●●
124. 39224498 c.2860G>A p.E954K missense 0.00001649●●●●●●
125. 39278406 c.743G>A p.R248H missense 0.00001649●●●●●●
126. 39213245 c.3722A>G p.K1241R missense 0.00001649●●●●●●
127. 39294840 c.142G>A p.V48I missense 0.00001648●●●●●●
128. 39224472 c.2886G>C p.R962S missense 0.00001648●●●●●●
129. 39213270 c.3697C>T p.L1233F missense 0.00001648●●●●●●
130. 39294839 c.143T>C p.V48A missense 0.00001648●●●●●●
131. 39213150 c.3817C>G p.L1273V missense 0.00001648●●●●●●
132. 39212996 c.3971C>G p.P1324R missense 0.00001648●●●●●●
133. 39278376 c.773A>T p.K258M missense 0.00001648●●●●●●
134. 39213305 c.3662G>C p.R1221T missense 0.00001648●●●●●●
135. 39249903 c.1666G>C p.V556L missense 0.00001648●●●●●●
136. 39222353 c.3257C>T p.P1086L missense 0.00001648●●●●●●
137. 39213107 c.3860T>C p.I1287T missense 0.00001648●●●●●●
138. 39224470 c.2888A>G p.K963R missense 0.00001648●●●●●●
139. 39213357 c.3610A>G p.I1204V missense 0.00001648●●●●●●
140. 0 c.-38-3C>T splice site 0.00001543●●●●●●
141. 39347599 c.-36G>T splice site 0.00001502●●●●●●
142. 39347601 c.-38C>T splice site 0.00001494●●●●●●
143. 39214622 c.3502C>G p.P1168A missense 0.00001368●●●●●●
144. 39214624 c.3500C>T p.S1167L missense 0.00001357●●●●●●
145. 39214634 c.3490G>A p.A1164T missense 0.00001314●●●●●●
146. 39214654 c.3470G>C p.R1157T missense 0.00001256●●●●●●
147. 39214723 c.3401C>T p.S1134F missense 0.00001190●●●●●●
148. 39214679 c.3445G>A p.V1149I missense 0.00001182●●●●●●
149. 39347556 c.8C>T p.A3V missense 0.00001042●●●●●●
150. 39347553 c.11A>G p.Q4R missense 0.00001038●●●●●●
151. 39347503 c.61G>C p.G21R missense 0.00001037●●●●●●
152. 39347544 c.20C>T p.P7L missense 0.00001019●●●●●●
153. 39347541 c.23A>G p.Y8C missense 0.00001014●●●●●●
154. 39347511 c.53A>T p.K18M missense 0.00001006●●●●●●
155. 39347527 c.37G>C p.E13Q missense 0.00001002●●●●●●
156. 39347523 c.41A>G p.E14G missense 0.00000999●●●●●●
157. 39251153 c.1200G>A splice site 0.00000907●●●●●●
158. 39224178 c.2966G>C p.R989T missense 0.00000879●●●●●●
159. 39262376 c.1051C>T p.L351F missense 0.00000869●●●●●●
160. 39251178 c.1175C>G p.S392C missense 0.00000857●●●●●●
161. 39213455 c.3512T>A p.I1171N missense 0.00000854●●●●●●
162. 39224171 c.2973T>G p.F991L missense 0.00000854●●●●●●
163. 39262645 c.865-4T>C splice site 0.00000852●●●●●●
164. 39241119 c.1952C>T p.P651L missense 0.00000848●●●●●●
165. 39216452 c.3350A>G p.N1117S missense 0.00000847●●●●●●
166. 39216447 c.3355A>G p.T1119A missense 0.00000844●●●●●●
167. 39224165 c.2979C>G p.N993K missense 0.00000843●●●●●●
168. 39281755 c.720T>C splice site 0.00000841●●●●●●
169. 39216411 c.3391A>G p.R1131G missense 0.00000841●●●●●●
170. 39281760 c.715G>A p.A239T missense 0.00000840●●●●●●
171. 39213447 c.3520A>C p.K1174Q missense 0.00000839●●●●●●
172. 39216420 c.3382C>T p.H1128Y missense 0.00000839●●●●●●
173. 39262420 c.1007A>G p.Q336R missense 0.00000838●●●●●●
174. 39262427 c.1000G>A p.A334T missense 0.00000837●●●●●●
175. 39262442 c.985G>A p.E329K missense 0.00000837●●●●●●
176. 39262426 c.1001C>T p.A334V missense 0.00000837●●●●●●
177. 39262448 c.979A>G p.I327V missense 0.00000836●●●●●●
178. 39241915 c.1931T>C p.I644T missense 0.00000836●●●●●●
179. 39213441 c.3526T>A p.L1176M missense 0.00000835●●●●●●
180. 39241096 c.1975G>A p.D659N missense 0.00000835●●●●●●
181. 39250029 c.1540T>C p.F514L missense 0.00000834●●●●●●
182. 39249712 c.1857A>G splice site 0.00000834●●●●●●
183. 39213436 c.3531C>A p.D1177E missense 0.00000833●●●●●●
184. 39281783 c.692T>C p.V231A missense 0.00000833●●●●●●
185. 39250047 c.1522A>C p.N508H missense 0.00000833●●●●●●
186. 39241088 c.1983A>G p.I661M missense 0.00000833●●●●●●
187. 39250011 c.1558G>A p.D520N missense 0.00000833●●●●●●
188. 39250041 c.1528T>A p.Y510N missense 0.00000833●●●●●●
189. 39213435 c.3532A>C p.S1178R missense 0.00000833●●●●●●
190. 39241981 c.1865A>G p.N622S missense 0.00000833●●●●●●
191. 39249719 c.1850T>C p.M617T missense 0.00000832●●●●●●
192. 39284007 c.346G>C p.E116Q missense 0.00000832●●●●●●
193. 39249718 c.1851G>T p.M617I missense 0.00000832●●●●●●
194. 39250008 c.1561G>A p.E521K missense 0.00000832●●●●●●
195. 39241082 c.1989A>G p.I663M missense 0.00000832●●●●●●
196. 39224148 c.2996A>G p.N999S missense 0.00000831●●●●●●
197. 39250000 c.1569T>G p.S523R missense 0.00000831●●●●●●
198. 39241072 c.1999G>A p.D667N missense 0.00000831●●●●●●
199. 39283997 c.356G>A p.G119D missense 0.00000831●●●●●●
200. 39250073 c.1496T>C p.V499A missense 0.00000831●●●●●●
201. 39213432 c.3535C>T p.P1179S missense 0.00000831●●●●●●
202. 39262616 c.890C>T p.S297L missense 0.00000831●●●●●●
203. 39241076 c.1995T>A p.N665K missense 0.00000831●●●●●●
204. 39284004 c.349G>C p.V117L missense 0.00000831●●●●●●
205. 39224146 c.2998A>G p.S1000G missense 0.00000830●●●●●●
206. 39233681 c.2674-11T>C splice site 0.00000830●●●●●●
207. 39224146 c.2998A>T p.S1000C missense 0.00000830●●●●●●
208. 39241014 c.2057A>T p.Q686L missense 0.00000829●●●●●●
209. 39262608 c.898C>G p.R300G missense 0.00000829●●●●●●
210. 39233673 c.2674-3T>C splice site 0.00000829●●●●●●
211. 39262607 c.899G>A p.R300Q missense 0.00000829●●●●●●
212. 39283977 c.376G>A p.V126I missense 0.00000828●●●●●●
213. 39224137 c.3007A>T p.K1003X nonsense 0.00000828●●●●●●
214. 39281927 c.548T>C p.I183T missense 0.00000828●●●●●●
215. 39281808 c.667A>G p.I223V missense 0.00000828●●●●●●
216. 39233549 c.2791+4A>G splice site 0.00000828●●●●●●
217. 39249741 c.1828A>G p.I610V missense 0.00000828●●●●●●
218. 39250307 c.1262A>T p.K421M missense 0.00000828●●●●●●
219. 39281915 c.560C>A p.S187Y missense 0.00000828●●●●●●
220. 39281932 c.543A>C p.E181D missense 0.00000828●●●●●●
221. 39281920 c.555A>G p.I185M missense 0.00000828●●●●●●
222. 39224560 c.2798A>G p.Y933C missense 0.00000827●●●●●●
223. 39250300 c.1269C>G p.N423K missense 0.00000827●●●●●●
224. 39250298 c.1271A>G p.E424G missense 0.00000827●●●●●●
225. 39249755 c.1814C>A p.T605N missense 0.00000827●●●●●●
226. 39285911 c.248A>G p.D83G missense 0.00000827●●●●●●
227. 39262560 c.946T>A p.S316T missense 0.00000827●●●●●●
228. 39250302 c.1267A>G p.N423D missense 0.00000827●●●●●●
229. 39234315 c.2530A>C p.N844H missense 0.00000827●●●●●●
230. 39250299 c.1270G>A p.E424K missense 0.00000827●●●●●●
231. 39222532 c.3082-4A>G splice site 0.00000826●●●●●●
232. 39240712 c.2064-8T>C splice site 0.00000826●●●●●●
233. 39249776 c.1793T>C p.I598T missense 0.00000826●●●●●●
234. 39213387 c.3580C>T p.P1194S missense 0.00000826●●●●●●
235. 39239451 c.2206A>G p.I736V missense 0.00000826●●●●●●
236. 39224386 c.2964+8G>C splice site 0.00000826●●●●●●
237. 39239460 c.2197A>C p.I733L missense 0.00000826●●●●●●
238. 39281876 c.599C>G p.T200S missense 0.00000826●●●●●●
239. 39233580 c.2764A>G p.I922V missense 0.00000826●●●●●●
240. 39249769 c.1800T>G p.I600M missense 0.00000826●●●●●●
241. 39240607 c.2161G>A p.V721I missense 0.00000826●●●●●●
242. 39250277 c.1292G>T p.G431V missense 0.00000826●●●●●●
243. 39224388 c.2964+6T>C splice site 0.00000826●●●●●●
244. 39281829 c.646A>T p.I216L missense 0.00000826●●●●●●
245. 39224086 c.3058A>C p.N1020H missense 0.00000826●●●●●●
246. 39233606 c.2738A>G p.K913R missense 0.00000826●●●●●●
247. 39250283 c.1286T>C p.I429T missense 0.00000826●●●●●●
248. 39240698 c.2070A>C p.L690F missense 0.00000826●●●●●●
249. 39283961 c.392T>C p.V131A missense 0.00000826●●●●●●
250. 39249771 c.1798A>G p.I600V missense 0.00000826●●●●●●
251. 39224546 c.2812T>G p.L938V missense 0.00000826●●●●●●
252. 39224101 c.3043G>A p.E1015K missense 0.00000826●●●●●●
253. 39249807 c.1762T>C p.F588L missense 0.00000825●●●●●●
254. 39294777 c.205G>C p.D69H missense 0.00000825●●●●●●
255. 39281856 c.619G>A p.A207T missense 0.00000825●●●●●●
256. 39249935 c.1634A>G p.Q545R missense 0.00000825●●●●●●
257. 39213227 c.3740C>G p.A1247G missense 0.00000825●●●●●●
258. 39213383 c.3584G>T p.R1195L missense 0.00000825●●●●●●
259. 39222288 c.3322G>C p.D1108H missense 0.00000825●●●●●●
260. 39278416 c.733A>G p.I245V missense 0.00000825●●●●●●
261. 39234173 c.2672A>G p.E891G missense 0.00000825●●●●●●
262. 39224395 c.2963A>G p.K988R missense 0.00000825●●●●●●
263. 39294783 c.199G>A p.A67T missense 0.00000825●●●●●●
264. 39239418 c.2239G>A p.G747R missense 0.00000825●●●●●●
265. 39213372 c.3595T>C p.S1199P missense 0.00000825●●●●●●
266. 39249943 c.1626A>G p.I542M missense 0.00000825●●●●●●
267. 39234284 c.2561G>A p.R854Q missense 0.00000825●●●●●●
268. 39213236 c.3731A>T p.H1244L missense 0.00000825●●●●●●
269. 39213209 c.3758C>T p.P1253L missense 0.00000825●●●●●●
270. 39285807 c.345+7_345+9delCTG splice site 0.00000825●●●●●●
271. 39234175 c.2670T>A p.F890L missense 0.00000825●●●●●●
272. 39224405 c.2953T>G p.S985A missense 0.00000825●●●●●●
273. 39213366 c.3601C>T p.R1201W missense 0.00000825●●●●●●
274. 39285807 c.345+7C>G splice site 0.00000825●●●●●●
275. 39285857 c.302A>G p.N101S missense 0.00000825●●●●●●
276. 39250137 c.1432C>G p.P478A missense 0.00000825●●●●●●
277. 39239430 c.2227G>C p.A743P missense 0.00000825●●●●●●
278. 39213165 c.3802G>A p.G1268S missense 0.00000825●●●●●●
279. 39249945 c.1624A>G p.I542V missense 0.00000825●●●●●●
280. 39240628 c.2140A>G p.M714V missense 0.00000825●●●●●●
281. 39239277 c.2380G>T p.D794Y missense 0.00000825●●●●●●
282. 39285808 c.345+6G>A splice site 0.00000825●●●●●●
283. 39234183 c.2662C>T p.H888Y missense 0.00000825●●●●●●
284. 39213375 c.3592A>G p.I1198V missense 0.00000825●●●●●●
285. 39213165 c.3802G>T p.G1268C missense 0.00000825●●●●●●
286. 39285866 c.293A>G p.K98R missense 0.00000825●●●●●●
287. 39250148 c.1421A>G p.N474S missense 0.00000825●●●●●●
288. 39213220 c.3747C>A p.F1249L missense 0.00000825●●●●●●
289. 39278412 c.737T>A p.F246Y missense 0.00000824●●●●●●
290. 39213321 c.3646C>G p.P1216A missense 0.00000824●●●●●●
291. 39213360 c.3607T>A p.S1203T missense 0.00000824●●●●●●
292. 39222336 c.3274G>A p.A1092T missense 0.00000824●●●●●●
293. 39222507 c.3103C>A p.L1035I missense 0.00000824●●●●●●
294. 39222389 c.3221A>G p.E1074G missense 0.00000824●●●●●●
295. 39213254 c.3713T>C p.L1238S missense 0.00000824●●●●●●
296. 39239375 c.2282T>G p.V761G missense 0.00000824●●●●●●
297. 39222320 c.3290G>C p.S1097T missense 0.00000824●●●●●●
298. 39234222 c.2623G>A p.V875I missense 0.00000824●●●●●●
299. 39278364 c.785A>G p.H262R missense 0.00000824●●●●●●
300. 39213296 c.3671A>G p.D1224G missense 0.00000824●●●●●●
301. 39249887 c.1682A>G p.E561G missense 0.00000824●●●●●●
302. 39222372 c.3238C>T p.P1080S missense 0.00000824●●●●●●
303. 39250231 c.1338G>T p.M446I missense 0.00000824●●●●●●
304. 39250182 c.1387C>G p.L463V missense 0.00000824●●●●●●
305. 39213021 c.3946C>T p.H1316Y missense 0.00000824●●●●●●
306. 39213062 c.3905T>C p.I1302T missense 0.00000824●●●●●●
307. 39249819 c.1750G>A p.E584K missense 0.00000824●●●●●●
308. 39213349 c.3618C>G p.D1206E missense 0.00000824●●●●●●
309. 39294855 c.127G>C p.D43H missense 0.00000824●●●●●●
310. 39222414 c.3196A>G p.S1066G missense 0.00000824●●●●●●
311. 39222345 c.3265C>T p.P1089S missense 0.00000824●●●●●●
312. 39239342 c.2315A>G p.E772G missense 0.00000824●●●●●●
313. 39222326 c.3284C>A p.A1095D missense 0.00000824●●●●●●
314. 39213131 c.3836C>T p.T1279I missense 0.00000824●●●●●●
315. 39213246 c.3721A>G p.K1241E missense 0.00000824●●●●●●
316. 39234255 c.2590G>C p.E864Q missense 0.00000824●●●●●●
317. 39224483 c.2875A>G p.S959G missense 0.00000824●●●●●●
318. 39213129 c.3838C>A p.Q1280K missense 0.00000824●●●●●●
319. 39222381 c.3229G>A p.A1077T missense 0.00000824●●●●●●
320. 39222395 c.3215A>C p.E1072A missense 0.00000824●●●●●●
321. 39213023 c.3944C>G p.T1315R missense 0.00000824●●●●●●
322. 39283895 c.458G>A p.R153Q missense 0.00000824●●●●●●
323. 39222315 c.3295A>G p.T1099A missense 0.00000824●●●●●●
324. 39213065 c.3902A>G p.H1301R missense 0.00000824●●●●●●
325. 39278314 c.835G>A p.V279I missense 0.00000824●●●●●●
326. 39222434 c.3176A>G p.E1059G missense 0.00000824●●●●●●
327. 39294809 c.173T>C p.M58T missense 0.00000824●●●●●●
328. 39213270 c.3697C>A p.L1233I missense 0.00000824●●●●●●
329. 39213359 c.3608C>G p.S1203C missense 0.00000824●●●●●●
330. 39222339 c.3271C>T p.P1091S missense 0.00000824●●●●●●
331. 39213006 c.3961A>T p.R1321X nonsense 0.00000824●●●●●●
332. 39222383 c.3227C>A p.T1076K missense 0.00000824●●●●●●
333. 39213161 c.3806C>G p.T1269R missense 0.00000824●●●●●●
334. 39213032 c.3935G>C p.R1312T missense 0.00000824●●●●●●
335. 39239345 c.2312T>G p.I771R missense 0.00000824●●●●●●
336. 39249909 c.1660C>T p.L554F missense 0.00000824●●●●●●
337. 39249881 c.1688A>G p.K563R missense 0.00000824●●●●●●
338. 39278349 c.800T>C p.V267A missense 0.00000824●●●●●●
339. 39249878 c.1691A>G p.E564G missense 0.00000824●●●●●●
340. 39213279 c.3688C>T p.P1230S missense 0.00000824●●●●●●
341. 39213261 c.3706C>A p.P1236T missense 0.00000824●●●●●●
342. 39250217 c.1352C>G p.T451R missense 0.00000824●●●●●●
343. 39222356 c.3254C>A p.T1085K missense 0.00000824●●●●●●
344. 39283853 c.500G>A p.C167Y missense 0.00000824●●●●●●
345. 39213011 c.3956T>C p.M1319T missense 0.00000824●●●●●●
346. 39278282 c.864+3A>G splice site 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.