TSC2 variants in ExAC

TSC2 gene summary
TSC2 variants in

The table below lists the TSC2 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. 2138218 c.5161-10A>C splice site 0.20671736●●●●●●
2. 2105400 c.482-3C>T splice site 0.08710623●●●●●●
3. 2110795 c.1100G>A p.R367Q missense 0.01364913●●●●●●
4. 2133798 c.3986G>A p.R1329H missense 0.00722906●●●●●●
5. 2103345 c.228C>T p.H76H splice site 0.00686823●●●●●●
6. 2133701 c.3889G>A p.A1297T missense 0.00568584●●●●●●
7. 2134982 c.4524_4526delCTT p.Phe1510del inframe 0.00534341●●●●●●
8. 2134221 c.4006-8C>T splice site 0.00494132●●●●●●
9. 2133726 c.3914C>T p.P1305L missense 0.00464204●●●●●●
10. 2132513 c.3883+8C>G splice site 0.00381405●●●●●●
11. 2108755 c.856A>G p.M286V missense 0.00361736●●●●●●
12. 2138219 c.5161-9C>T splice site 0.00347095●●●●●●
13. 2134508 c.4285G>T p.A1429S missense 0.00334134●●●●●●
14. 2137857 c.4990-7C>T splice site 0.00303831●●●●●●
15. 2138508 c.5321G>C p.S1774T missense 0.00299646●●●●●●
16. 2138546 c.5359G>A p.G1787S missense 0.00254306●●●●●●
17. 2112989 c.1378G>A p.A460T missense 0.00240763●●●●●●
18. 2103392 c.275A>T p.E92V missense 0.00194344●●●●●●
19. 2121870 c.2032G>A p.A678T missense 0.00186599●●●●●●
20. 2130190 c.3422C>T p.A1141V missense 0.00183043●●●●●●
21. 2120487 c.1747G>A p.A583T missense 0.00165381●●●●●●
22. 2134539 c.4316G>A p.G1439D missense 0.00155615●●●●●●
23. 2107186 c.848+7G>A splice site 0.00146042●●●●●●
24. 2131586 c.3611-10G>A splice site 0.00139176●●●●●●
25. 2103389 c.272C>T p.P91L missense 0.00132542●●●●●●
26. 2138570 c.5383C>T p.R1795C missense 0.00122059●●●●●●
27. 2122977 c.2348C>G p.T783S missense 0.00095642●●●●●●
28. 2127595 c.2838-4A>G splice site 0.00083858●●●●●●
29. 2112558 c.1318G>A p.G440S missense 0.00076763●●●●●●
30. 2130384 c.3610+6G>A splice site 0.00069751●●●●●●
31. 2137891 c.5017G>C p.V1673L missense 0.00069076●●●●●●
32. 2130387 c.3610+9C>T splice site 0.00068975●●●●●●
33. 2120559 c.1819G>A p.A607T missense 0.00065082●●●●●●
34. 2103368 c.251C>T p.A84V missense 0.00061732●●●●●●
35. 2124321 c.2476C>A p.L826M missense 0.00056573●●●●●●
36. 2134246 c.4023C>A p.S1341R missense 0.00050528●●●●●●
37. 2130189 c.3421G>A p.A1141T missense 0.00048485●●●●●●
38. 2110765 c.1070C>T p.A357V missense 0.00047176●●●●●●
39. 2103343 c.226C>T p.H76Y missense 0.00044951●●●●●●
40. 2120585 c.1839+6G>A splice site 0.00041986●●●●●●
41. 2130243 c.3475C>T p.R1159W missense 0.00041015●●●●●●
42. 2134418 c.4195G>A p.G1399R missense 0.00040885●●●●●●
43. 2107145 c.814G>A p.A272T missense 0.00038986●●●●●●
44. 2121610 c.1939G>A p.D647N missense 0.00038712●●●●●●
45. 2121617 c.1946T>C p.M649T missense 0.00036401●●●●●●
46. 2138074 c.5094C>A p.S1698R missense 0.00035841●●●●●●
47. 2112532 c.1292C>T p.A431V missense 0.00035557●●●●●●
48. 2112998 c.1387A>G p.I463V missense 0.00034004●●●●●●
49. 2134230 c.4007C>T p.S1336L missense 0.00033752●●●●●●
50. 2138096 c.5116C>T p.R1706C missense 0.00026653●●●●●●
51. 2129650 c.3377A>T p.D1126V missense 0.00026609●●●●●●
52. 2121811 c.1973A>C p.K658T missense 0.00025947●●●●●●
53. 2138111 c.5131G>A p.V1711M missense 0.00024983●●●●●●
54. 2126489 c.2743-3C>A splice site 0.00024930●●●●●●
55. 2132449 c.3827C>T p.S1276F missense 0.00023319●●●●●●
56. 2131788 c.3803G>A p.R1268H missense 0.00022676●●●●●●
57. 2130198 c.3430G>A p.V1144M missense 0.00022556●●●●●●
58. 2138499 c.5312C>T p.P1771L missense 0.00022523●●●●●●
59. 2106225 c.628G>A p.A210T missense 0.00022394●●●●●●
60. 2108740 c.849-8A>G splice site 0.00022007●●●●●●
61. 2115529 c.1609C>T p.R537C missense 0.00020615●●●●●●
62. 2129426 c.3281C>T p.S1094L missense 0.00020178●●●●●●
63. 2131755 c.3770C>T p.A1257V missense 0.00019260●●●●●●
64. 2133704 c.3892G>A p.V1298M missense 0.00019223●●●●●●
65. 2134328 c.4105C>T p.R1369W missense 0.00019003●●●●●●
66. 2134723 c.4493+7C>A splice site 0.00017186●●●●●●
67. 2130325 c.3557A>G p.Y1186C missense 0.00016796●●●●●●
68. 2120475 c.1735C>G p.P579A missense 0.00016622●●●●●●
69. 2126510 c.2761C>G p.L921V missense 0.00016604●●●●●●
70. 2122925 c.2296G>A p.V766M missense 0.00016587●●●●●●
71. 2121782 c.1947-3C>T splice site 0.00015765●●●●●●
72. 2134692 c.4469A>G p.E1490G missense 0.00015452●●●●●●
73. 2134248 c.4025_4027delAGG p.Glu1344del inframe 0.00015431●●●●●●
74. 2130259 c.3491C>T p.A1164V missense 0.00015036●●●●●●
75. 2129285 c.3140T>C p.V1047A missense 0.00014989●●●●●●
76. 2126485 c.2743-7C>G splice site 0.00014963●●●●●●
77. 2133731 c.3919G>A p.E1307K missense 0.00013921●●●●●●
78. 2134317 c.4094C>T p.S1365L missense 0.00013917●●●●●●
79. 2129027 c.2967-6C>T splice site 0.00013351●●●●●●
80. 2121873 c.2035G>A p.V679M missense 0.00012473●●●●●●
81. 2122297 c.2153G>C p.R718P missense 0.00012410●●●●●●
82. 2106712 c.716T>G p.F239C missense 0.00012369●●●●●●
83. 2100485 c.223G>A p.E75K missense 0.00011691●●●●●●
84. 2121847 c.2009C>T p.P670L missense 0.00011214●●●●●●
85. 2130181 c.3413G>A p.R1138Q missense 0.00010875●●●●●●
86. 2138276 c.5209C>T p.P1737S missense 0.00010806●●●●●●
87. 2134446 c.4223G>T p.G1408V missense 0.00010805●●●●●●
88. 2112973 c.1362G>C p.R454S missense 0.00010172●●●●●●
89. 2132511 c.3883+6G>A splice site 0.00010035●●●●●●
90. 2127687 c.2926C>T p.R976W missense 0.00009978●●●●●●
91. 2107112 c.781C>T p.R261W missense 0.00009849●●●●●●
92. 2129560 c.3287C>T p.S1096F missense 0.00009793●●●●●●
93. 2129638 c.3365G>A p.R1122H missense 0.00009369●●●●●●
94. 2138565 c.5378G>A p.R1793Q missense 0.00009340●●●●●●
95. 2131592 c.3611-4G>A splice site 0.00009318●●●●●●
96. 2103415 c.298G>A p.A100T missense 0.00009258●●●●●●
97. 2103416 c.299C>T p.A100V missense 0.00009254●●●●●●
98. 2121536 c.1865G>A p.R622Q missense 0.00009210●●●●●●
99. 2111996 c.1244C>T p.A415V missense 0.00009158●●●●●●
100. 2138252 c.5185C>T p.R1729C missense 0.00009134●●●●●●
101. 2106756 c.760G>A p.E254K missense 0.00009089●●●●●●
102. 2134448 c.4225C>T p.R1409W missense 0.00008848●●●●●●
103. 2121865 c.2027G>T p.G676V missense 0.00008535●●●●●●
104. 2138600 c.5413G>A p.E1805K missense 0.00008409●●●●●●
105. 2129420 c.3275C>T p.P1092L missense 0.00008399●●●●●●
106. 2135023 c.4565A>G p.N1522S missense 0.00008324●●●●●●
107. 2121858 c.2020C>T p.P674S missense 0.00008159●●●●●●
108. 2129652 c.3379C>T p.R1127W missense 0.00008081●●●●●●
109. 2129637 c.3364C>T p.R1122C missense 0.00007914●●●●●●
110. 2129677 c.3397+7C>T splice site 0.00007816●●●●●●
111. 2108882 c.975+8G>A splice site 0.00007730●●●●●●
112. 2121624 c.1946+7G>A splice site 0.00007690●●●●●●
113. 2135271 c.4610T>C p.I1537T missense 0.00007515●●●●●●
114. 2127724 c.2963G>C p.R988P missense 0.00007512●●●●●●
115. 2124249 c.2404A>G p.S802G missense 0.00007501●●●●●●
116. 2100429 c.167A>G p.N56S missense 0.00007462●●●●●●
117. 2106216 c.619G>A p.V207I missense 0.00007462●●●●●●
118. 2134225 c.4006-4C>G splice site 0.00007315●●●●●●
119. 2121909 c.2071C>T p.R691C missense 0.00006939●●●●●●
120. 2136187 c.4663-7C>T splice site 0.00006757●●●●●●
121. 2132513 c.3883+8_3883+9delCT splice site 0.00006690●●●●●●
122. 2130288 c.3520C>T p.R1174W missense 0.00006688●●●●●●
123. 2127709 c.2948C>G p.S983C missense 0.00006661●●●●●●
124. 2126141 c.2712C>G p.F904L missense 0.00006650●●●●●●
125. 2126499 c.2750G>A p.R917Q missense 0.00006645●●●●●●
126. 2111885 c.1133C>T p.P378L missense 0.00006617●●●●●●
127. 2114406 c.1577G>C p.S526T missense 0.00006617●●●●●●
128. 2106717 c.721G>A p.V241I missense 0.00006598●●●●●●
129. 2134231 c.4008G>A splice site 0.00006404●●●●●●
130. 2134578 c.4355C>T p.S1452L missense 0.00006385●●●●●●
131. 2121856 c.2018C>T p.A673V missense 0.00006222●●●●●●
132. 2121877 c.2039G>A p.R680Q missense 0.00006189●●●●●●
133. 2134233 c.4010C>T p.S1337F missense 0.00006111●●●●●●
134. 2121623 c.1946+6C>T splice site 0.00005979●●●●●●
135. 2125795 c.2546-5C>T splice site 0.00005897●●●●●●
136. 2124201 c.2356C>T p.R786C missense 0.00005875●●●●●●
137. 2138544 c.5357C>G p.P1786R missense 0.00005873●●●●●●
138. 2135225 c.4570-6_4570-5insCACAGT splice site 0.00005866●●●●●●
139. 2121553 c.1882C>T p.R628C missense 0.00005849●●●●●●
140. 2134439 c.4216G>A p.D1406N missense 0.00005833●●●●●●
141. 2138097 c.5117G>A p.R1706H missense 0.00005831●●●●●●
142. 2100395 c.139-6C>T splice site 0.00005820●●●●●●
143. 2122874 c.2245C>T p.R749W missense 0.00005811●●●●●●
144. 2104304 c.344G>A p.R115H missense 0.00005768●●●●●●
145. 2136384 c.4849+4C>T splice site 0.00005760●●●●●●
146. 2134575 c.4352G>A p.R1451H missense 0.00005514●●●●●●
147. 2134268 c.4045G>A p.A1349T missense 0.00005507●●●●●●
148. 2133705 c.3893T>C p.V1298A missense 0.00005410●●●●●●
149. 2129568 c.3295G>A p.G1099R missense 0.00005304●●●●●●
150. 2133780 c.3968C>T p.A1323V missense 0.00005262●●●●●●
151. 2112968 c.1362-5C>T splice site 0.00005176●●●●●●
152. 2130382 c.3610+4C>T splice site 0.00005166●●●●●●
153. 2137891 c.5017G>A p.V1673I missense 0.00005054●●●●●●
154. 2137909 c.5035G>A p.E1679K missense 0.00005035●●●●●●
155. 2110822 c.1119+8_1119+9insG splice site 0.00005030●●●●●●
156. 2112977 c.1366G>A p.E456K missense 0.00005030●●●●●●
157. 2135240 c.4579T>C p.F1527L missense 0.00005015●●●●●●
158. 2130258 c.3490G>T p.A1164S missense 0.00005012●●●●●●
159. 2120560 c.1820C>T p.A607V missense 0.00005008●●●●●●
160. 2138449 c.5262C>G p.I1754M missense 0.00005004●●●●●●
161. 2138462 c.5275G>A p.A1759T missense 0.00005003●●●●●●
162. 2129052 c.2986A>G p.T996A missense 0.00004999●●●●●●
163. 2134968 c.4510C>T p.L1504F missense 0.00004995●●●●●●
164. 2129166 c.3100G>A p.V1034I missense 0.00004991●●●●●●
165. 2138253 c.5186G>A p.R1729H missense 0.00004982●●●●●●
166. 2100410 c.148A>G p.M50V missense 0.00004979●●●●●●
167. 2110761 c.1066G>C p.V356L missense 0.00004964●●●●●●
168. 2122351 c.2207C>T p.A736V missense 0.00004964●●●●●●
169. 2110684 c.989C>T p.P330L missense 0.00004955●●●●●●
170. 2106669 c.673G>A p.V225M missense 0.00004953●●●●●●
171. 2105507 c.586G>A p.A196T missense 0.00004942●●●●●●
172. 2105504 c.583A>G p.I195V missense 0.00004942●●●●●●
173. 2134449 c.4226G>A p.R1409Q missense 0.00004922●●●●●●
174. 2107151 c.820T>G p.Y274D missense 0.00004866●●●●●●
175. 2134439 c.4216G>T p.D1406Y missense 0.00004861●●●●●●
176. 2113004 c.1393G>A p.V465M missense 0.00004845●●●●●●
177. 2121910 c.2072G>T p.R691L missense 0.00004753●●●●●●
178. 2121912 c.2074G>A p.V692I missense 0.00004733●●●●●●
179. 2134590 c.4367T>A p.L1456H missense 0.00004488●●●●●●
180. 2121807 c.1969A>C p.K657Q missense 0.00004488●●●●●●
181. 2134301 c.4078G>A p.E1360K missense 0.00004477●●●●●●
182. 2134310 c.4087G>A p.V1363I missense 0.00004376●●●●●●
183. 2134637 c.4414G>A p.G1472S missense 0.00004326●●●●●●
184. 2134331 c.4108C>T p.P1370S missense 0.00004313●●●●●●
185. 2134670 c.4447A>G p.R1483G missense 0.00004299●●●●●●
186. 2121781 c.1947-4G>A splice site 0.00004285●●●●●●
187. 2138571 c.5384G>A p.R1795H missense 0.00004269●●●●●●
188. 2121505 c.1840-6T>G splice site 0.00004255●●●●●●
189. 2131591 c.3611-5C>T splice site 0.00004238●●●●●●
190. 2112495 c.1258-3C>T splice site 0.00004227●●●●●●
191. 2126175 c.2742+4G>A splice site 0.00004219●●●●●●
192. 2112605 c.1361+4delG splice site 0.00004190●●●●●●
193. 2124210 c.2365G>A p.V789I missense 0.00004188●●●●●●
194. 2130246 c.3478A>C p.T1160P missense 0.00004183●●●●●●
195. 2121586 c.1915C>T p.R639W missense 0.00004181●●●●●●
196. 2124237 c.2392C>T p.H798Y missense 0.00004175●●●●●●
197. 2138483 c.5296C>T p.P1766S missense 0.00004169●●●●●●
198. 2138463 c.5276C>T p.A1759V missense 0.00004169●●●●●●
199. 2126534 c.2785G>A p.E929K missense 0.00004150●●●●●●
200. 2127634 c.2873A>G p.N958S missense 0.00004149●●●●●●
201. 2106754 c.758G>A p.C253Y missense 0.00004131●●●●●●
202. 2115548 c.1628C>T p.P543L missense 0.00004123●●●●●●
203. 2104391 c.431A>G p.K144R missense 0.00004119●●●●●●
204. 2104393 c.433G>A p.A145T missense 0.00004119●●●●●●
205. 2134269 c.4046C>T p.A1349V missense 0.00004041●●●●●●
206. 2134479 c.4256A>G p.Q1419R missense 0.00003989●●●●●●
207. 2103451 c.334C>G p.Q112E missense 0.00003874●●●●●●
208. 2108881 c.975+7C>T splice site 0.00003869●●●●●●
209. 2134253 c.4030G>A p.E1344K missense 0.00003862●●●●●●
210. 2134581 c.4358C>T p.P1453L missense 0.00003625●●●●●●
211. 2136828 c.4945G>A p.V1649I missense 0.00003601●●●●●●
212. 2103442 c.325G>A p.V109M missense 0.00003518●●●●●●
213. 2112580 c.1340C>T p.A447V missense 0.00003490●●●●●●
214. 2134631 c.4408C>T p.R1470C missense 0.00003469●●●●●●
215. 2134649 c.4426G>A p.E1476K missense 0.00003450●●●●●●
216. 2134671 c.4448G>C p.R1483T missense 0.00003439●●●●●●
217. 2136735 c.4852G>A p.V1618I missense 0.00003398●●●●●●
218. 2125796 c.2546-4G>A splice site 0.00003369●●●●●●
219. 2138550 c.5363A>G p.Y1788C missense 0.00003361●●●●●●
220. 2110820 c.1119+6G>C splice site 0.00003352●●●●●●
221. 2130244 c.3476G>A p.R1159Q missense 0.00003347●●●●●●
222. 2138523 c.5336A>G p.Q1779R missense 0.00003346●●●●●●
223. 2121587 c.1916G>A p.R639Q missense 0.00003344●●●●●●
224. 2135300 c.4639G>A p.V1547I missense 0.00003342●●●●●●
225. 2130202 c.3434C>T p.P1145L missense 0.00003341●●●●●●
226. 2135264 c.4603G>A p.D1535N missense 0.00003340●●●●●●
227. 2132493 c.3871G>A p.V1291I missense 0.00003340●●●●●●
228. 2129377 c.3232C>T p.R1078W missense 0.00003339●●●●●●
229. 2125838 c.2584G>A p.A862T missense 0.00003339●●●●●●
230. 2120556 c.1816A>G p.I606V missense 0.00003336●●●●●●
231. 2132472 c.3850C>T p.Q1284X nonsense 0.00003336●●●●●●
232. 2138495 c.5308C>T p.P1770S missense 0.00003336●●●●●●
233. 2110808 c.1113G>C p.Q371H missense 0.00003336●●●●●●
234. 2138075 c.5095G>A p.V1699M missense 0.00003334●●●●●●
235. 2129354 c.3209C>T p.T1070M missense 0.00003334●●●●●●
236. 2138090 c.5110T>G p.S1704A missense 0.00003332●●●●●●
237. 2129303 c.3158C>T p.A1053V missense 0.00003331●●●●●●
238. 2129062 c.2996G>A p.S999N missense 0.00003331●●●●●●
239. 2129088 c.3022G>A p.V1008M missense 0.00003329●●●●●●
240. 2138220 c.5161-8G>A splice site 0.00003322●●●●●●
241. 2138228 c.5161A>G p.M1721V missense 0.00003321●●●●●●
242. 2127648 c.2887G>A p.V963M missense 0.00003320●●●●●●
243. 2098636 c.20A>G p.K7R missense 0.00003319●●●●●●
244. 2112516 c.1276C>G p.L426V missense 0.00003319●●●●●●
245. 2098633 c.17G>A p.S6N missense 0.00003319●●●●●●
246. 2122340 c.2196G>C p.Q732H missense 0.00003309●●●●●●
247. 2106706 c.710C>T p.P237L missense 0.00003299●●●●●●
248. 2106691 c.695C>T p.P232L missense 0.00003299●●●●●●
249. 2115520 c.1600G>T p.V534L missense 0.00003298●●●●●●
250. 2121825 c.1987C>T p.L663F missense 0.00003293●●●●●●
251. 2133770 c.3958G>A p.V1320I missense 0.00003289●●●●●●
252. 2121941 c.2097+6T>G splice site 0.00003282●●●●●●
253. 2121819 c.1981G>A p.G661S missense 0.00003195●●●●●●
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765. 2127646 c.2885C>T p.P962L missense 0.00000830●●●●●●
766. 2106189 c.600-8C>A splice site 0.00000830●●●●●●
767. 2111956 c.1204G>A p.G402R missense 0.00000829●●●●●●
768. 2098655 c.39G>T p.E13D missense 0.00000829●●●●●●
769. 2106226 c.629C>T p.A210V missense 0.00000829●●●●●●
770. 2098651 c.35_37delAGG p.Glu13del inframe 0.00000829●●●●●●
771. 2122926 c.2297T>C p.V766A missense 0.00000829●●●●●●
772. 2111957 c.1205G>A p.G402E missense 0.00000829●●●●●●
773. 2122928 c.2299G>T p.V767F missense 0.00000829●●●●●●
774. 2100432 c.170G>A p.R57H missense 0.00000829●●●●●●
775. 2106219 c.622C>G p.R208G missense 0.00000829●●●●●●
776. 2122916 c.2287C>T p.H763Y missense 0.00000829●●●●●●
777. 2122929 c.2300T>G p.V767G missense 0.00000829●●●●●●
778. 2098757 c.138+3G>C splice site 0.00000828●●●●●●
779. 2122237 c.2098-5C>T splice site 0.00000828●●●●●●
780. 2098758 c.138+4A>G splice site 0.00000828●●●●●●
781. 2122368 c.2220+4C>G splice site 0.00000828●●●●●●
782. 2111940 c.1188C>A p.D396E missense 0.00000828●●●●●●
783. 2098698 c.82C>T p.P28S missense 0.00000828●●●●●●
784. 2098690 c.74G>A p.R25K missense 0.00000828●●●●●●
785. 2111947 c.1195G>A p.E399K missense 0.00000828●●●●●●
786. 2111906 c.1154A>G p.H385R missense 0.00000827●●●●●●
787. 2122305 c.2161G>A p.V721M missense 0.00000827●●●●●●
788. 2114387 c.1558C>G p.H520D missense 0.00000827●●●●●●
789. 2098717 c.101A>G p.K34R missense 0.00000827●●●●●●
790. 2122315 c.2171T>C p.F724S missense 0.00000827●●●●●●
791. 2110757 c.1062G>C p.Q354H missense 0.00000827●●●●●●
792. 2098722 c.106A>G p.T36A missense 0.00000827●●●●●●
793. 2122347 c.2203T>C p.S735P missense 0.00000827●●●●●●
794. 2111893 c.1141A>G p.R381G missense 0.00000827●●●●●●
795. 2122291 c.2147C>T p.S716F missense 0.00000827●●●●●●
796. 2111894 c.1142G>A p.R381K missense 0.00000827●●●●●●
797. 2122324 c.2180C>T p.P727L missense 0.00000827●●●●●●
798. 2098729 c.113T>A p.F38Y missense 0.00000827●●●●●●
799. 2098713 c.97G>A p.G33S missense 0.00000827●●●●●●
800. 2111897 c.1145C>T p.T382I missense 0.00000827●●●●●●
801. 2098717 c.101A>C p.K34T missense 0.00000827●●●●●●
802. 2110747 c.1052A>G p.K351R missense 0.00000827●●●●●●
803. 2122335 c.2191G>C p.D731H missense 0.00000827●●●●●●
804. 2110699 c.1004C>T p.S335F missense 0.00000826●●●●●●
805. 2114339 c.1510G>T p.V504F missense 0.00000826●●●●●●
806. 2110702 c.1007A>G p.Y336C missense 0.00000826●●●●●●
807. 2110674 c.979A>G p.M327V missense 0.00000826●●●●●●
808. 2110668 c.976-3C>T splice site 0.00000826●●●●●●
809. 2114362 c.1533G>T p.L511F missense 0.00000826●●●●●●
810. 2110731 c.1036A>C p.I346L missense 0.00000826●●●●●●
811. 2110693 c.998T>C p.V333A missense 0.00000826●●●●●●
812. 2114325 c.1496A>C p.D499A missense 0.00000825●●●●●●
813. 2106709 c.713T>C p.L238P missense 0.00000825●●●●●●
814. 2114295 c.1466T>C p.V489A missense 0.00000825●●●●●●
815. 2106690 c.694C>T p.P232S missense 0.00000825●●●●●●
816. 2106732 c.736A>G p.T246A missense 0.00000825●●●●●●
817. 2115590 c.1670T>C p.L557S missense 0.00000825●●●●●●
818. 2104449 c.481+8C>T splice site 0.00000825●●●●●●
819. 2115538 c.1618T>C p.S540P missense 0.00000825●●●●●●
820. 2114283 c.1454T>C p.I485T missense 0.00000825●●●●●●
821. 2115598 c.1678G>A p.V560M missense 0.00000825●●●●●●
822. 2115571 c.1651G>T p.A551S missense 0.00000825●●●●●●
823. 2115596 c.1676A>T p.D559V missense 0.00000825●●●●●●
824. 2115542 c.1622C>G p.P541R missense 0.00000825●●●●●●
825. 2106741 c.745G>C p.V249L missense 0.00000825●●●●●●
826. 2114283 c.1454T>A p.I485N missense 0.00000825●●●●●●
827. 2114301 c.1472C>T p.S491L missense 0.00000825●●●●●●
828. 2115610 c.1690G>C p.V564L missense 0.00000825●●●●●●
829. 2115574 c.1654G>T p.A552S missense 0.00000825●●●●●●
830. 2115571 c.1651G>A p.A551T missense 0.00000825●●●●●●
831. 2114287 c.1458C>G p.N486K missense 0.00000825●●●●●●
832. 2115542 c.1622C>T p.P541L missense 0.00000825●●●●●●
833. 2114310 c.1481C>T p.S494F missense 0.00000825●●●●●●
834. 2114292 c.1463T>G p.V488G missense 0.00000825●●●●●●
835. 2106675 c.679T>G p.C227G missense 0.00000825●●●●●●
836. 2115583 c.1663G>C p.A555P missense 0.00000825●●●●●●
837. 2115610 c.1690G>A p.V564I missense 0.00000825●●●●●●
838. 2104448 c.481+7G>T splice site 0.00000825●●●●●●
839. 2115533 c.1613C>G p.S538C missense 0.00000825●●●●●●
840. 2114265 c.1444-8C>T splice site 0.00000825●●●●●●
841. 2114321 c.1492G>A p.E498K missense 0.00000825●●●●●●
842. 2115563 c.1643G>A p.R548K missense 0.00000825●●●●●●
843. 2105425 c.504G>T p.M168I missense 0.00000824●●●●●●
844. 2104291 c.337-6C>G splice site 0.00000824●●●●●●
845. 2105511 c.590G>A p.R197K missense 0.00000824●●●●●●
846. 2105396 c.482-7delC splice site 0.00000824●●●●●●
847. 2105494 c.573_575delCGA p.Asp192del inframe 0.00000824●●●●●●
848. 2105442 c.521C>T p.S174L missense 0.00000824●●●●●●
849. 2104351 c.391C>G p.P131A missense 0.00000824●●●●●●
850. 2104335 c.375G>C p.K125N missense 0.00000824●●●●●●
851. 2105459 c.538C>G p.L180V missense 0.00000824●●●●●●
852. 2104294 c.337-3T>A splice site 0.00000824●●●●●●
853. 2105516 c.595G>C p.V199L missense 0.00000824●●●●●●
854. 2105487 c.566G>A p.C189Y missense 0.00000824●●●●●●
855. 2105422 c.501G>C p.W167C missense 0.00000824●●●●●●
856. 2104412 c.452G>C p.R151T missense 0.00000824●●●●●●
857. 2104325 c.365T>G p.L122R missense 0.00000824●●●●●●
858. 2104330 c.370T>C p.F124L missense 0.00000824●●●●●●
859. 2105442 c.521C>G p.S174W missense 0.00000824●●●●●●
860. 2104363 c.403G>A p.D135N missense 0.00000824●●●●●●
861. 2104297 c.337G>A p.G113S missense 0.00000824●●●●●●
862. 2104299 c.339C>T p.G113G splice site 0.00000824●●●●●●
863. 2105498 c.577G>A p.E193K missense 0.00000824●●●●●●
864. 2105423 c.502A>G p.M168V missense 0.00000824●●●●●●
865. 2104414 c.454C>G p.H152D missense 0.00000824●●●●●●
866. 2104332 c.372T>G p.F124L 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.