AKAP9 missense variants in ExAC

AKAP9 gene summary
AKAP9 variants in

The table below lists the AKAP9 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. 91714911 c.8935C>T p.P2979S missense 0.99620101●●●●●●
2. 91630620 c.1389G>T p.M463I missense 0.38289772●●●●●●
3. 91712698 c.8375A>G p.N2792S missense 0.35934440●●●●●●
4. 91708898 c.7451A>G p.K2484R missense 0.10900423●●●●●●
5. 91646406 c.3827G>A p.R1276Q missense 0.01548369●●●●●●
6. 91659259 c.4199T>C p.M1400T missense 0.01462711●●●●●●
7. 91603115 c.139C>T p.H47Y missense 0.00814343●●●●●●
8. 91729127 c.10840A>G p.M3614V missense 0.00717569●●●●●●
9. 91726604 c.10331A>G p.Q3444R missense 0.00434716●●●●●●
10. 91700267 c.6556T>C p.S2186P missense 0.00377582●●●●●●
11. 91630532 c.1301G>A p.R434Q missense 0.00357547●●●●●●
12. 91670136 c.4841G>A p.R1614Q missense 0.00227235●●●●●●
13. 91726202 c.9929G>A p.R3310Q missense 0.00199357●●●●●●
14. 91622303 c.510G>C p.E170D missense 0.00179610●●●●●●
15. 91715609 c.9092A>G p.Q3031R missense 0.00171332●●●●●●
16. 91603056 c.80C>T p.S27L missense 0.00166191●●●●●●
17. 91732083 c.11273G>A p.R3758H missense 0.00156093●●●●●●
18. 91726391 c.10118C>A p.S3373Y missense 0.00148923●●●●●●
19. 91712609 c.8286A>C p.K2762N missense 0.00125947●●●●●●
20. 91630202 c.971T>C p.I324T missense 0.00124909●●●●●●
21. 91694604 c.6037G>A p.E2013K missense 0.00116503●●●●●●
22. 91682040 c.5369T>G p.V1790G missense 0.00094413●●●●●●
23. 91712808 c.8485G>A p.E2829K missense 0.00094368●●●●●●
24. 91729145 c.10858A>G p.I3620V missense 0.00093119●●●●●●
25. 91667913 c.4519G>C p.D1507H missense 0.00092792●●●●●●
26. 91694701 c.6134A>G p.N2045S missense 0.00091732●●●●●●
27. 91674405 c.5246T>C p.I1749T missense 0.00089818●●●●●●
28. 91726527 c.10254G>C p.Q3418H missense 0.00088126●●●●●●
29. 91727479 c.10664A>T p.D3555V missense 0.00086835●●●●●●
30. 91709220 c.7773A>C p.Q2591H missense 0.00086022●●●●●●
31. 91739463 c.11714T>C p.M3905T missense 0.00078995●●●●●●
32. 91631656 c.2425A>G p.I809V missense 0.00075351●●●●●●
33. 91652302 c.4127G>C p.S1376T missense 0.00074966●●●●●●
34. 91727487 c.10672A>G p.I3558V missense 0.00073840●●●●●●
35. 91630330 c.1099G>A p.V367M missense 0.00072338●●●●●●
36. 91630603 c.1372G>C p.A458P missense 0.00072217●●●●●●
37. 91732035 c.11225G>C p.R3742P missense 0.00070033●●●●●●
38. 91631812 c.2581T>C p.Y861H missense 0.00065468●●●●●●
39. 91709085 c.7638A>G p.I2546M missense 0.00062983●●●●●●
40. 91731945 c.11135G>A p.R3712Q missense 0.00062640●●●●●●
41. 91631708 c.2477T>C p.I826T missense 0.00059716●●●●●●
42. 91694743 c.6176A>G p.E2059G missense 0.00055697●●●●●●
43. 91667736 c.4342A>G p.I1448V missense 0.00054917●●●●●●
44. 91726036 c.9763A>G p.R3255G missense 0.00054313●●●●●●
45. 91623968 c.610G>A p.D204N missense 0.00054092●●●●●●
46. 91726960 c.10459G>A p.E3487K missense 0.00053585●●●●●●
47. 91632424 c.3193A>G p.S1065G missense 0.00053143●●●●●●
48. 91736674 c.11484T>A p.H3828Q missense 0.00051901●●●●●●
49. 91632176 c.2945C>A p.S982Y missense 0.00050669●●●●●●
50. 91643610 c.3580G>A p.A1194T missense 0.00048566●●●●●●
51. 91682099 c.5428A>G p.M1810V missense 0.00048050●●●●●●
52. 91670121 c.4826G>A p.R1609K missense 0.00044649●●●●●●
53. 91641854 c.3430T>C p.C1144R missense 0.00043698●●●●●●
54. 91732110 c.11300C>T p.S3767L missense 0.00043198●●●●●●
55. 91659250 c.4190A>G p.Q1397R missense 0.00042028●●●●●●
56. 91714870 c.8894A>G p.Y2965C missense 0.00039568●●●●●●
57. 91726313 c.10040A>T p.E3347V missense 0.00035469●●●●●●
58. 91631959 c.2728G>C p.V910L missense 0.00035359●●●●●●
59. 91712668 c.8345C>T p.T2782I missense 0.00033183●●●●●●
60. 91708935 c.7488T>G p.N2496K missense 0.00030769●●●●●●
61. 91671490 c.5048C>T p.T1683M missense 0.00030551●●●●●●
62. 91660839 c.4259T>G p.F1420C missense 0.00030545●●●●●●
63. 91651578 c.3864G>A p.M1288I missense 0.00028853●●●●●●
64. 91630882 c.1651A>G p.I551V missense 0.00028153●●●●●●
65. 91659223 c.4163C>T p.S1388L missense 0.00026371●●●●●●
66. 91724447 c.9689A>G p.K3230R missense 0.00026369●●●●●●
67. 91726907 c.10406C>T p.T3469M missense 0.00025681●●●●●●
68. 91603264 c.288G>T p.E96D missense 0.00024786●●●●●●
69. 91690697 c.5725G>A p.A1909T missense 0.00024778●●●●●●
70. 91690640 c.5668A>T p.T1890S missense 0.00023926●●●●●●
71. 91724455 c.9697C>T p.R3233C missense 0.00023076●●●●●●
72. 91674443 c.5284A>G p.K1762E missense 0.00023071●●●●●●
73. 91715644 c.9127G>A p.A3043T missense 0.00023062●●●●●●
74. 91694613 c.6046C>T p.R2016C missense 0.00022564●●●●●●
75. 91708587 c.7140A>C p.E2380D missense 0.00022360●●●●●●
76. 91732039 c.11229G>T p.M3743I missense 0.00020640●●●●●●
77. 91631840 c.2609G>A p.C870Y missense 0.00020170●●●●●●
78. 91708613 c.7166A>G p.D2389G missense 0.00019087●●●●●●
79. 91739445 c.11696C>T p.T3899I missense 0.00018701●●●●●●
80. 91713963 c.8656A>G p.I2886V missense 0.00018378●●●●●●
81. 91671427 c.4985C>T p.A1662V missense 0.00017334●●●●●●
82. 91714951 c.8975C>T p.S2992L missense 0.00016958●●●●●●
83. 91682075 c.5404G>A p.D1802N missense 0.00016659●●●●●●
84. 91732107 c.11297G>A p.R3766Q missense 0.00014937●●●●●●
85. 91714169 c.8747C>A p.T2916K missense 0.00014841●●●●●●
86. 91651600 c.3886A>G p.N1296D missense 0.00014838●●●●●●
87. 91739456 c.11707G>A p.A3903T missense 0.00014802●●●●●●
88. 91630873 c.1642A>G p.R548G missense 0.00014075●●●●●●
89. 91682214 c.5543C>G p.S1848C missense 0.00014067●●●●●●
90. 91625067 c.883A>G p.T295A missense 0.00013708●●●●●●
91. 91712512 c.8189A>G p.Q2730R missense 0.00013295●●●●●●
92. 91726103 c.9830T>C p.I3277T missense 0.00013237●●●●●●
93. 91700229 c.6518G>A p.R2173Q missense 0.00013237●●●●●●
94. 91603134 c.158A>G p.H53R missense 0.00013192●●●●●●
95. 91641872 c.3448C>T p.L1150F missense 0.00013191●●●●●●
96. 91735023 c.11362G>C p.V3788L missense 0.00013183●●●●●●
97. 91709333 c.7886T>C p.V2629A missense 0.00012954●●●●●●
98. 91708655 c.7208A>G p.E2403G missense 0.00012493●●●●●●
99. 91622234 c.441A>T p.E147D missense 0.00012391●●●●●●
100. 91690694 c.5722A>G p.R1908G missense 0.00012386●●●●●●
101. 91630389 c.1158A>T p.K386N missense 0.00012301●●●●●●
102. 91622257 c.464C>A p.T155N missense 0.00011546●●●●●●
103. 91631542 c.2311G>A p.A771T missense 0.00010848●●●●●●
104. 91630565 c.1334T>C p.I445T missense 0.00010801●●●●●●
105. 91603095 c.119G>A p.R40K missense 0.00010762●●●●●●
106. 91690677 c.5705G>A p.R1902H missense 0.00010733●●●●●●
107. 91570454 c.41A>C p.K14T missense 0.00010732●●●●●●
108. 91672040 c.5117A>G p.D1706G missense 0.00010727●●●●●●
109. 91630192 c.961A>G p.K321E missense 0.00010544●●●●●●
110. 91646361 c.3782A>G p.N1261S missense 0.00010118●●●●●●
111. 91631131 c.1900G>A p.E634K missense 0.00010006●●●●●●
112. 91695832 c.6302A>C p.Q2101P missense 0.00009942●●●●●●
113. 91630916 c.1685A>G p.H562R missense 0.00009939●●●●●●
114. 91700244 c.6533C>T p.A2178V missense 0.00009904●●●●●●
115. 91622249 c.456C>A p.D152E missense 0.00009900●●●●●●
116. 91732041 c.11231G>C p.G3744A missense 0.00009888●●●●●●
117. 91732044 c.11234G>T p.G3745V missense 0.00009888●●●●●●
118. 91736709 c.11519T>C p.I3840T missense 0.00009888●●●●●●
119. 91736684 c.11494C>T p.R3832C missense 0.00009886●●●●●●
120. 91623960 c.602A>G p.K201R missense 0.00009437●●●●●●
121. 91631167 c.1936A>G p.I646V missense 0.00009217●●●●●●
122. 91712565 c.8242T>C p.S2748P missense 0.00009111●●●●●●
123. 91708757 c.7310G>A p.R2437H missense 0.00008306●●●●●●
124. 91708761 c.7314A>T p.E2438D missense 0.00008304●●●●●●
125. 91707140 c.6896A>G p.E2299G missense 0.00008299●●●●●●
126. 91630842 c.1611G>T p.L537F missense 0.00008287●●●●●●
127. 91713984 c.8677G>C p.D2893H missense 0.00008285●●●●●●
128. 91690574 c.5602C>T p.L1868F missense 0.00008266●●●●●●
129. 91690709 c.5737C>G p.L1913V missense 0.00008266●●●●●●
130. 91660833 c.4253G>A p.G1418D missense 0.00008258●●●●●●
131. 91671436 c.4994A>T p.Q1665L missense 0.00008253●●●●●●
132. 91690652 c.5680A>G p.K1894E missense 0.00008252●●●●●●
133. 91623956 c.598A>G p.I200V missense 0.00007792●●●●●●
134. 91631461 c.2230G>A p.E744K missense 0.00007659●●●●●●
135. 91726522 c.10249C>T p.R3417C missense 0.00007549●●●●●●
136. 91630739 c.1508A>G p.Q503R missense 0.00007489●●●●●●
137. 91707142 c.6898C>G p.Q2300E missense 0.00007474●●●●●●
138. 91709149 c.7702G>A p.A2568T missense 0.00007450●●●●●●
139. 91715549 c.9032A>G p.D3011G missense 0.00007419●●●●●●
140. 91570423 c.10G>C p.E4Q missense 0.00007417●●●●●●
141. 91735012 c.11351G>A p.R3784Q missense 0.00007416●●●●●●
142. 91715654 c.9137G>A p.R3046Q missense 0.00007413●●●●●●
143. 91709427 c.7980A>C p.K2660N missense 0.00007178●●●●●●
144. 91646386 c.3807A>T p.K1269N missense 0.00006698●●●●●●
145. 91708730 c.7283A>T p.Q2428L missense 0.00006662●●●●●●
146. 91641774 c.3350G>A p.R1117H missense 0.00006602●●●●●●
147. 91690608 c.5636T>C p.M1879T missense 0.00006602●●●●●●
148. 91603211 c.235C>T p.P79S missense 0.00006598●●●●●●
149. 91659255 c.4195A>G p.T1399A missense 0.00006593●●●●●●
150. 91735021 c.11360G>A p.R3787Q missense 0.00006592●●●●●●
151. 91736685 c.11495G>A p.R3832H missense 0.00006591●●●●●●
152. 91718834 c.9349C>A p.P3117T missense 0.00005846●●●●●●
153. 91708891 c.7444T>C p.Y2482H missense 0.00005825●●●●●●
154. 91732115 c.11305G>A p.V3769I missense 0.00005825●●●●●●
155. 91718822 c.9337G>A p.E3113K missense 0.00005807●●●●●●
156. 91670135 c.4840C>T p.R1614W missense 0.00005802●●●●●●
157. 91624032 c.674T>C p.M225T missense 0.00005795●●●●●●
158. 91682120 c.5449G>A p.E1817K missense 0.00005786●●●●●●
159. 91651648 c.3934A>C p.T1312P missense 0.00005780●●●●●●
160. 91641819 c.3395G>A p.R1132H missense 0.00005771●●●●●●
161. 91674410 c.5251C>T p.R1751C missense 0.00005768●●●●●●
162. 91724441 c.9683A>G p.K3228R missense 0.00005768●●●●●●
163. 91622340 c.547G>A p.V183I missense 0.00005768●●●●●●
164. 91726243 c.9970G>A p.A3324T missense 0.00005767●●●●●●
165. 91715630 c.9113G>A p.R3038H missense 0.00005766●●●●●●
166. 91706232 c.6676G>A p.V2226I missense 0.00005283●●●●●●
167. 91631867 c.2636A>G p.E879G missense 0.00005050●●●●●●
168. 91712791 c.8468A>G p.Q2823R missense 0.00004993●●●●●●
169. 91632182 c.2951A>G p.K984R missense 0.00004982●●●●●●
170. 91732107 c.11297G>T p.R3766L missense 0.00004979●●●●●●
171. 91712696 c.8373C>G p.S2791R missense 0.00004978●●●●●●
172. 91732101 c.11291G>A p.R3764K missense 0.00004972●●●●●●
173. 91652209 c.4034G>A p.S1345N missense 0.00004954●●●●●●
174. 91671481 c.5039A>G p.N1680S missense 0.00004953●●●●●●
175. 91671441 c.4999T>C p.S1667P missense 0.00004951●●●●●●
176. 91622254 c.461C>T p.P154L missense 0.00004950●●●●●●
177. 91734994 c.11333T>A p.M3778K missense 0.00004949●●●●●●
178. 91726987 c.10486G>A p.A3496T missense 0.00004945●●●●●●
179. 91674431 c.5272G>C p.D1758H missense 0.00004944●●●●●●
180. 91707050 c.6806A>T p.D2269V missense 0.00004944●●●●●●
181. 91652257 c.4082A>T p.Y1361F missense 0.00004943●●●●●●
182. 91726216 c.9943A>G p.T3315A missense 0.00004943●●●●●●
183. 91730213 c.10940T>C p.I3647T missense 0.00004943●●●●●●
184. 91729028 c.10741T>G p.C3581G missense 0.00004942●●●●●●
185. 91645545 c.3715G>T p.D1239Y missense 0.00004928●●●●●●
186. 91630298 c.1067A>T p.D356V missense 0.00004582●●●●●●
187. 91727503 c.10688A>G p.K3563R missense 0.00004317●●●●●●
188. 91668025 c.4631G>C p.C1544S missense 0.00004226●●●●●●
189. 91709263 c.7816T>G p.L2606V missense 0.00004176●●●●●●
190. 91630474 c.1243G>A p.E415K missense 0.00004171●●●●●●
191. 91712497 c.8174A>G p.N2725S missense 0.00004164●●●●●●
192. 91732113 c.11303C>T p.A3768V missense 0.00004158●●●●●●
193. 91712544 c.8221G>A p.A2741T missense 0.00004146●●●●●●
194. 91709065 c.7618A>G p.I2540V missense 0.00004146●●●●●●
195. 91630628 c.1397G>A p.R466Q missense 0.00004143●●●●●●
196. 91691693 c.5870A>G p.N1957S missense 0.00004133●●●●●●
197. 91732039 c.11229G>A p.M3743I missense 0.00004128●●●●●●
198. 91732080 c.11270A>G p.N3757S missense 0.00004128●●●●●●
199. 91691656 c.5833A>G p.I1945V missense 0.00004127●●●●●●
200. 91622253 c.460C>A p.P154T missense 0.00004125●●●●●●
201. 91732069 c.11259G>C p.E3753D missense 0.00004123●●●●●●
202. 91724413 c.9655G>C p.E3219Q missense 0.00004121●●●●●●
203. 91726154 c.9881G>A p.R3294Q missense 0.00004119●●●●●●
204. 91652134 c.3959A>G p.N1320S missense 0.00004114●●●●●●
205. 91630328 c.1097T>C p.I366T missense 0.00003697●●●●●●
206. 91670179 c.4884A>C p.E1628D missense 0.00003633●●●●●●
207. 91726634 c.10361G>A p.R3454Q missense 0.00003533●●●●●●
208. 91708466 c.7019G>A p.C2340Y missense 0.00003390●●●●●●
209. 91706283 c.6727C>T p.R2243C missense 0.00003382●●●●●●
210. 91667998 c.4604C>G p.P1535R missense 0.00003375●●●●●●
211. 91671369 c.4927A>C p.I1643L missense 0.00003340●●●●●●
212. 91630457 c.1226A>C p.H409P missense 0.00003339●●●●●●
213. 91630490 c.1259A>G p.Q420R missense 0.00003334●●●●●●
214. 91630780 c.1549G>C p.G517R missense 0.00003326●●●●●●
215. 91711972 c.8156T>G p.L2719R missense 0.00003321●●●●●●
216. 91712637 c.8314A>G p.I2772V missense 0.00003316●●●●●●
217. 91722498 c.9446A>G p.E3149G missense 0.00003314●●●●●●
218. 91718814 c.9329G>A p.R3110K missense 0.00003314●●●●●●
219. 91624936 c.752T>G p.L251R missense 0.00003313●●●●●●
220. 91722459 c.9407T>C p.M3136T missense 0.00003311●●●●●●
221. 91726391 c.10118C>G p.S3373C missense 0.00003309●●●●●●
222. 91708543 c.7096A>G p.I2366V missense 0.00003308●●●●●●
223. 91603101 c.125C>T p.T42M missense 0.00003307●●●●●●
224. 91670109 c.4814C>T p.T1605M missense 0.00003306●●●●●●
225. 91726346 c.10073G>A p.R3358H missense 0.00003304●●●●●●
226. 91682139 c.5468A>T p.Q1823L missense 0.00003303●●●●●●
227. 91671477 c.5035C>T p.R1679C missense 0.00003302●●●●●●
228. 91674339 c.5180C>T p.A1727V missense 0.00003301●●●●●●
229. 91641917 c.3493C>A p.H1165N missense 0.00003301●●●●●●
230. 91660850 c.4270G>A p.E1424K missense 0.00003301●●●●●●
231. 91690610 c.5638C>T p.R1880C missense 0.00003301●●●●●●
232. 91674515 c.5356G>C p.E1786Q missense 0.00003300●●●●●●
233. 91660854 c.4274A>C p.E1425A missense 0.00003300●●●●●●
234. 91674515 c.5356G>A p.E1786K missense 0.00003300●●●●●●
235. 91718790 c.9305A>G p.N3102S missense 0.00003300●●●●●●
236. 91603187 c.211C>G p.Q71E missense 0.00003299●●●●●●
237. 91718714 c.9229G>A p.A3077T missense 0.00003299●●●●●●
238. 91726300 c.10027G>A p.D3343N missense 0.00003299●●●●●●
239. 91641828 c.3404T>C p.M1135T missense 0.00003298●●●●●●
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269. 91631059 c.1828G>A p.V610M missense 0.00002508●●●●●●
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271. 91713961 c.8654C>T p.S2885L missense 0.00002508●●●●●●
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279. 91712734 c.8411T>C p.I2804T missense 0.00002492●●●●●●
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283. 91726418 c.10145A>C p.K3382T missense 0.00002488●●●●●●
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285. 91630826 c.1595A>T p.D532V missense 0.00002487●●●●●●
286. 91631612 c.2381A>G p.H794R missense 0.00002487●●●●●●
287. 91630913 c.1682C>T p.A561V missense 0.00002485●●●●●●
288. 91708594 c.7147A>C p.S2383R missense 0.00002485●●●●●●
289. 91709237 c.7790T>G p.L2597W missense 0.00002485●●●●●●
290. 91641753 c.3329G>C p.R1110T missense 0.00002484●●●●●●
291. 91722449 c.9397A>G p.M3133V missense 0.00002484●●●●●●
292. 91641755 c.3331C>G p.L1111V missense 0.00002482●●●●●●
293. 91622224 c.431C>G p.S144C missense 0.00002481●●●●●●
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295. 91660916 c.4336A>C p.K1446Q missense 0.00002477●●●●●●
296. 91671478 c.5036G>A p.R1679H missense 0.00002477●●●●●●
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298. 91660908 c.4328A>T p.E1443V missense 0.00002476●●●●●●
299. 91660911 c.4331T>C p.V1444A missense 0.00002476●●●●●●
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301. 91660862 c.4282A>G p.I1428V missense 0.00002475●●●●●●
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303. 91690611 c.5639G>A p.R1880H missense 0.00002475●●●●●●
304. 91690641 c.5669C>G p.T1890R missense 0.00002475●●●●●●
305. 91726928 c.10427G>A p.R3476K missense 0.00002475●●●●●●
306. 91641893 c.3469A>G p.K1157E missense 0.00002474●●●●●●
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309. 91729167 c.10880G>A p.G3627E missense 0.00002474●●●●●●
310. 91622278 c.485G>C p.S162T missense 0.00002473●●●●●●
311. 91641818 c.3394C>T p.R1132C missense 0.00002473●●●●●●
312. 91735003 c.11342T>C p.L3781S missense 0.00002473●●●●●●
313. 91652317 c.4142C>T p.P1381L missense 0.00002472●●●●●●
314. 91622347 c.554A>G p.Y185C missense 0.00002472●●●●●●
315. 91732034 c.11224C>T p.R3742W missense 0.00002472●●●●●●
316. 91622302 c.509A>T p.E170V missense 0.00002472●●●●●●
317. 91732044 c.11234G>A p.G3745E missense 0.00002472●●●●●●
318. 91726253 c.9980A>G p.Q3327R missense 0.00002472●●●●●●
319. 91715632 c.9115A>G p.S3039G missense 0.00002471●●●●●●
320. 91729080 c.10793A>G p.H3598R missense 0.00002471●●●●●●
321. 91731987 c.11177T>C p.L3726P missense 0.00002471●●●●●●
322. 91732005 c.11195G>A p.C3732Y missense 0.00002471●●●●●●
323. 91708417 c.6970A>G p.I2324V missense 0.00002013●●●●●●
324. 91709402 c.7955G>T p.G2652V missense 0.00001947●●●●●●
325. 91670192 c.4897C>T p.L1633F missense 0.00001938●●●●●●
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327. 91726670 c.10397A>T p.E3466V missense 0.00001889●●●●●●
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329. 91646346 c.3767T>G p.M1256R missense 0.00001867●●●●●●
330. 91652154 c.3979T>C p.S1327P missense 0.00001863●●●●●●
331. 91694762 c.6195G>A p.M2065I missense 0.00001853●●●●●●
332. 91643622 c.3592G>C p.E1198Q missense 0.00001796●●●●●●
333. 91646351 c.3772A>G p.T1258A missense 0.00001794●●●●●●
334. 91625074 c.890A>G p.Q297R missense 0.00001746●●●●●●
335. 91631344 c.2113T>G p.L705V missense 0.00001742●●●●●●
336. 91631422 c.2191C>T p.L731F missense 0.00001737●●●●●●
337. 91603038 c.62G>A p.R21Q missense 0.00001725●●●●●●
338. 91706248 c.6692T>C p.M2231T missense 0.00001720●●●●●●
339. 91646397 c.3818T>C p.L1273P missense 0.00001713●●●●●●
340. 91645449 c.3619T>C p.C1207R missense 0.00001712●●●●●●
341. 91623962 c.604C>G p.Q202E missense 0.00001708●●●●●●
342. 91631215 c.1984C>T p.H662Y missense 0.00001701●●●●●●
343. 91722623 c.9571G>A p.A3191T missense 0.00001698●●●●●●
344. 91712901 c.8578G>A p.A2860T missense 0.00001692●●●●●●
345. 91646393 c.3814G>A p.V1272I missense 0.00001692●●●●●●
346. 91667736 c.4342A>T p.I1448F missense 0.00001690●●●●●●
347. 91712859 c.8536C>T p.H2846Y missense 0.00001690●●●●●●
348. 91694593 c.6026A>G p.Q2009R missense 0.00001687●●●●●●
349. 91631917 c.2686C>G p.L896V missense 0.00001685●●●●●●
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351. 91609633 c.337G>T p.D113Y missense 0.00001683●●●●●●
352. 91712936 c.8613G>C p.L2871F missense 0.00001683●●●●●●
353. 91631849 c.2618A>C p.K873T missense 0.00001681●●●●●●
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359. 91631802 c.2571T>A p.F857L missense 0.00001677●●●●●●
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365. 91632021 c.2790G>C p.M930I missense 0.00001674●●●●●●
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399. 91632471 c.3240G>T p.K1080N missense 0.00001661●●●●●●
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449. 91621512 c.392C>T p.T131I missense 0.00001651●●●●●●
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451. 91632286 c.3055T>G p.L1019V missense 0.00001651●●●●●●
452. 91641921 c.3497A>C p.Q1166P missense 0.00001651●●●●●●
453. 91690671 c.5699G>A p.R1900Q missense 0.00001651●●●●●●
454. 91732039 c.11229G>C p.M3743I missense 0.00001651●●●●●●
455. 91660865 c.4285G>A p.V1429I missense 0.00001650●●●●●●
456. 91718702 c.9217G>A p.V3073I missense 0.00001650●●●●●●
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462. 91699452 c.6439G>C p.E2147Q missense 0.00001649●●●●●●
463. 91718778 c.9293A>G p.H3098R missense 0.00001649●●●●●●
464. 91570438 c.25A>C p.K9Q missense 0.00001649●●●●●●
465. 91641825 c.3401A>G p.Y1134C missense 0.00001649●●●●●●
466. 91651567 c.3853A>G p.T1285A missense 0.00001649●●●●●●
467. 91714891 c.8915C>T p.S2972F missense 0.00001649●●●●●●
468. 91714903 c.8927T>C p.V2976A missense 0.00001649●●●●●●
469. 91724468 c.9710G>A p.R3237Q missense 0.00001649●●●●●●
470. 91726135 c.9862T>G p.L3288V missense 0.00001649●●●●●●
471. 91726295 c.10022C>T p.S3341L missense 0.00001649●●●●●●
472. 91714205 c.8783G>A p.R2928Q missense 0.00001648●●●●●●
473. 91652306 c.4131G>C p.E1377D missense 0.00001648●●●●●●
474. 91674440 c.5281A>G p.S1761G missense 0.00001648●●●●●●
475. 91736661 c.11471G>A p.G3824E missense 0.00001648●●●●●●
476. 91715587 c.9070G>A p.G3024S missense 0.00001648●●●●●●
477. 91724456 c.9698G>T p.R3233L missense 0.00001648●●●●●●
478. 91622317 c.524A>T p.N175I missense 0.00001648●●●●●●
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963. 91671402 c.4960A>G p.R1654G missense 0.00000826●●●●●●
964. 91671403 c.4961G>A p.R1654K missense 0.00000826●●●●●●
965. 91671404 c.4962G>T p.R1654S missense 0.00000826●●●●●●
966. 91671405 c.4963G>T p.V1655L missense 0.00000826●●●●●●
967. 91671418 c.4976A>T p.E1659V missense 0.00000826●●●●●●
968. 91671420 c.4978C>A p.L1660M missense 0.00000826●●●●●●
969. 91671498 c.5056C>G p.Q1686E missense 0.00000826●●●●●●
970. 91674335 c.5176A>G p.K1726E missense 0.00000826●●●●●●
971. 91682127 c.5456C>G p.T1819R missense 0.00000826●●●●●●
972. 91682133 c.5462T>A p.L1821Q missense 0.00000826●●●●●●
973. 91682151 c.5480G>A p.R1827K missense 0.00000826●●●●●●
974. 91682152 c.5481G>T p.R1827S missense 0.00000826●●●●●●
975. 91690584 c.5612C>T p.A1871V missense 0.00000826●●●●●●
976. 91690584 c.5612C>G p.A1871G missense 0.00000826●●●●●●
977. 91690586 c.5614A>G p.K1872E missense 0.00000826●●●●●●
978. 91691602 c.5779T>C p.Y1927H missense 0.00000826●●●●●●
979. 91691625 c.5802T>G p.F1934L missense 0.00000826●●●●●●
980. 91691626 c.5803G>A p.E1935K missense 0.00000826●●●●●●
981. 91691662 c.5839C>A p.R1947S missense 0.00000826●●●●●●
982. 91691663 c.5840G>A p.R1947H missense 0.00000826●●●●●●
983. 91691672 c.5849A>G p.Q1950R missense 0.00000826●●●●●●
984. 91691689 c.5866A>G p.S1956G missense 0.00000826●●●●●●
985. 91707107 c.6863A>G p.Q2288R missense 0.00000826●●●●●●
986. 91711881 c.8065A>G p.N2689D missense 0.00000826●●●●●●
987. 91711905 c.8089G>C p.E2697Q missense 0.00000826●●●●●●
988. 91711911 c.8095G>T p.V2699L missense 0.00000826●●●●●●
989. 91714149 c.8727G>C p.W2909C missense 0.00000826●●●●●●
990. 91714151 c.8729G>T p.G2910V missense 0.00000826●●●●●●
991. 91714809 c.8833G>C p.G2945R missense 0.00000826●●●●●●
992. 91715726 c.9209A>T p.E3070V missense 0.00000826●●●●●●
993. 91726118 c.9845T>C p.M3282T missense 0.00000826●●●●●●
994. 91730350 c.11077T>C p.S3693P missense 0.00000826●●●●●●
995. 91731921 c.11111A>G p.K3704R missense 0.00000826●●●●●●
996. 91731923 c.11113T>C p.Y3705H missense 0.00000826●●●●●●
997. 91732082 c.11272C>T p.R3758C missense 0.00000826●●●●●●
998. 91737927 c.11666G>A p.R3889Q missense 0.00000826●●●●●●
999. 91737932 c.11671G>A p.G3891R missense 0.00000826●●●●●●
1000. 91621493 c.373A>G p.M125V missense 0.00000825●●●●●●
1001. 91690637 c.5665G>A p.A1889T missense 0.00000825●●●●●●
1002. 91621509 c.389C>G p.P130R missense 0.00000825●●●●●●
1003. 91726334 c.10061A>G p.E3354G missense 0.00000825●●●●●●
1004. 91641884 c.3460C>G p.Q1154E missense 0.00000825●●●●●●
1005. 91660866 c.4286T>C p.V1429A missense 0.00000825●●●●●●
1006. 91641898 c.3474C>G p.I1158M missense 0.00000825●●●●●●
1007. 91570441 c.28C>G p.L10V missense 0.00000825●●●●●●
1008. 91570451 c.38G>A p.G13D missense 0.00000825●●●●●●
1009. 91570453 c.40A>G p.K14E missense 0.00000825●●●●●●
1010. 91603122 c.146T>A p.V49E missense 0.00000825●●●●●●
1011. 91603148 c.172G>A p.D58N missense 0.00000825●●●●●●
1012. 91603185 c.209C>A p.S70Y missense 0.00000825●●●●●●
1013. 91603185 c.209C>T p.S70F missense 0.00000825●●●●●●
1014. 91621500 c.380C>T p.T127I missense 0.00000825●●●●●●
1015. 91621508 c.388C>T p.P130S missense 0.00000825●●●●●●
1016. 91621514 c.394A>C p.N132H missense 0.00000825●●●●●●
1017. 91622248 c.455A>G p.D152G missense 0.00000825●●●●●●
1018. 91622250 c.457A>T p.S153C missense 0.00000825●●●●●●
1019. 91622259 c.466C>T p.H156Y missense 0.00000825●●●●●●
1020. 91622369 c.576G>C p.Q192H missense 0.00000825●●●●●●
1021. 91641795 c.3371A>C p.Y1124S missense 0.00000825●●●●●●
1022. 91641800 c.3376A>G p.T1126A missense 0.00000825●●●●●●
1023. 91641804 c.3380A>T p.H1127L missense 0.00000825●●●●●●
1024. 91641805 c.3381T>G p.H1127Q missense 0.00000825●●●●●●
1025. 91641848 c.3424G>A p.A1142T missense 0.00000825●●●●●●
1026. 91641851 c.3427C>G p.L1143V missense 0.00000825●●●●●●
1027. 91651552 c.3838A>C p.I1280L missense 0.00000825●●●●●●
1028. 91651633 c.3919A>C p.I1307L missense 0.00000825●●●●●●
1029. 91651633 c.3919A>G p.I1307V missense 0.00000825●●●●●●
1030. 91652214 c.4039A>G p.I1347V missense 0.00000825●●●●●●
1031. 91660880 c.4300A>G p.K1434E missense 0.00000825●●●●●●
1032. 91660883 c.4303C>A p.Q1435K missense 0.00000825●●●●●●
1033. 91671426 c.4984G>A p.A1662T missense 0.00000825●●●●●●
1034. 91672041 c.5118C>G p.D1706E missense 0.00000825●●●●●●
1035. 91672066 c.5143G>A p.E1715K missense 0.00000825●●●●●●
1036. 91674339 c.5180C>A p.A1727D missense 0.00000825●●●●●●
1037. 91674518 c.5359C>T p.H1787Y missense 0.00000825●●●●●●
1038. 91690607 c.5635A>G p.M1879V missense 0.00000825●●●●●●
1039. 91690628 c.5656A>C p.K1886Q missense 0.00000825●●●●●●
1040. 91690673 c.5701G>A p.E1901K missense 0.00000825●●●●●●
1041. 91691639 c.5816A>G p.Q1939R missense 0.00000825●●●●●●
1042. 91691648 c.5825C>A p.T1942N missense 0.00000825●●●●●●
1043. 91691654 c.5831T>G p.I1944R missense 0.00000825●●●●●●
1044. 91691654 c.5831T>C p.I1944T missense 0.00000825●●●●●●
1045. 91699437 c.6424A>G p.R2142G missense 0.00000825●●●●●●
1046. 91700257 c.6546A>T p.K2182N missense 0.00000825●●●●●●
1047. 91700262 c.6551A>G p.E2184G missense 0.00000825●●●●●●
1048. 91700307 c.6596A>C p.D2199A missense 0.00000825●●●●●●
1049. 91707024 c.6780A>T p.K2260N missense 0.00000825●●●●●●
1050. 91714159 c.8737A>G p.I2913V missense 0.00000825●●●●●●
1051. 91714822 c.8846C>G p.A2949G missense 0.00000825●●●●●●
1052. 91718709 c.9224A>G p.Y3075C missense 0.00000825●●●●●●
1053. 91718721 c.9236T>C p.M3079T missense 0.00000825●●●●●●
1054. 91724395 c.9637G>A p.E3213K missense 0.00000825●●●●●●
1055. 91724468 c.9710G>T p.R3237L missense 0.00000825●●●●●●
1056. 91726121 c.9848T>C p.L3283P missense 0.00000825●●●●●●
1057. 91726931 c.10430C>T p.T3477I missense 0.00000825●●●●●●
1058. 91727051 c.10550A>G p.Q3517R missense 0.00000825●●●●●●
1059. 91727055 c.10554G>T p.K3518N missense 0.00000825●●●●●●
1060. 91727056 c.10555C>T p.L3519F missense 0.00000825●●●●●●
1061. 91727069 c.10568C>T p.A3523V missense 0.00000825●●●●●●
1062. 91732077 c.11267C>T p.T3756I missense 0.00000825●●●●●●
1063. 91736733 c.11543A>G p.N3848S missense 0.00000825●●●●●●
1064. 91736735 c.11545A>G p.R3849G missense 0.00000825●●●●●●
1065. 91737834 c.11573A>G p.N3858S missense 0.00000824●●●●●●
1066. 91726190 c.9917A>G p.K3306R missense 0.00000824●●●●●●
1067. 91714905 c.8929T>G p.S2977A missense 0.00000824●●●●●●
1068. 91730212 c.10939A>G p.I3647V missense 0.00000824●●●●●●
1069. 91622290 c.497G>T p.G166V missense 0.00000824●●●●●●
1070. 91718729 c.9244C>T p.L3082F missense 0.00000824●●●●●●
1071. 91724423 c.9665G>T p.W3222L missense 0.00000824●●●●●●
1072. 91729085 c.10798A>G p.S3600G missense 0.00000824●●●●●●
1073. 91730204 c.10931T>C p.I3644T missense 0.00000824●●●●●●
1074. 91732050 c.11240C>T p.P3747L missense 0.00000824●●●●●●
1075. 91729158 c.10871G>A p.R3624Q missense 0.00000824●●●●●●
1076. 91622272 c.479T>C p.M160T missense 0.00000824●●●●●●
1077. 91674402 c.5243C>G p.T1748R missense 0.00000824●●●●●●
1078. 91715651 c.9134T>C p.F3045S missense 0.00000824●●●●●●
1079. 91718730 c.9245T>C p.L3082P missense 0.00000824●●●●●●
1080. 91730171 c.10898C>G p.S3633C missense 0.00000824●●●●●●
1081. 91730293 c.11020T>G p.Y3674D missense 0.00000824●●●●●●
1082. 91603142 c.166A>G p.N56D missense 0.00000824●●●●●●
1083. 91622298 c.505C>T p.H169Y missense 0.00000824●●●●●●
1084. 91622305 c.512T>C p.I171T missense 0.00000824●●●●●●
1085. 91622346 c.553T>G p.Y185D missense 0.00000824●●●●●●
1086. 91641841 c.3417A>T p.K1139N missense 0.00000824●●●●●●
1087. 91641843 c.3419A>G p.D1140G missense 0.00000824●●●●●●
1088. 91641846 c.3422A>G p.K1141R missense 0.00000824●●●●●●
1089. 91641859 c.3435T>A p.S1145R missense 0.00000824●●●●●●
1090. 91651574 c.3860G>A p.G1287D missense 0.00000824●●●●●●
1091. 91651585 c.3871G>C p.E1291Q missense 0.00000824●●●●●●
1092. 91651603 c.3889C>T p.L1297F missense 0.00000824●●●●●●
1093. 91651613 c.3899A>G p.E1300G missense 0.00000824●●●●●●
1094. 91651619 c.3905C>T p.T1302I missense 0.00000824●●●●●●
1095. 91652237 c.4062G>T p.L1354F missense 0.00000824●●●●●●
1096. 91652252 c.4077A>C p.Q1359H missense 0.00000824●●●●●●
1097. 91652269 c.4094T>C p.I1365T missense 0.00000824●●●●●●
1098. 91652272 c.4097A>G p.H1366R missense 0.00000824●●●●●●
1099. 91652274 c.4099T>A p.C1367S missense 0.00000824●●●●●●
1100. 91652311 c.4136C>T p.T1379M missense 0.00000824●●●●●●
1101. 91659216 c.4156G>T p.V1386F missense 0.00000824●●●●●●
1102. 91659225 c.4165G>A p.V1389M missense 0.00000824●●●●●●
1103. 91659244 c.4184A>C p.D1395A missense 0.00000824●●●●●●
1104. 91659249 c.4189C>G p.Q1397E missense 0.00000824●●●●●●
1105. 91659254 c.4194A>T p.R1398S missense 0.00000824●●●●●●
1106. 91674366 c.5207T>C p.L1736S missense 0.00000824●●●●●●
1107. 91674386 c.5227G>A p.A1743T missense 0.00000824●●●●●●
1108. 91674395 c.5236G>A p.E1746K missense 0.00000824●●●●●●
1109. 91674402 c.5243C>T p.T1748I missense 0.00000824●●●●●●
1110. 91674435 c.5276G>A p.R1759K missense 0.00000824●●●●●●
1111. 91674474 c.5315G>A p.R1772K missense 0.00000824●●●●●●
1112. 91674485 c.5326G>A p.E1776K missense 0.00000824●●●●●●
1113. 91674489 c.5330C>G p.A1777G missense 0.00000824●●●●●●
1114. 91699489 c.6476C>T p.A2159V missense 0.00000824●●●●●●
1115. 91699494 c.6481C>T p.L2161F missense 0.00000824●●●●●●
1116. 91699515 c.6502C>A p.Q2168K missense 0.00000824●●●●●●
1117. 91700286 c.6575A>G p.Q2192R missense 0.00000824●●●●●●
1118. 91707055 c.6811A>G p.M2271V missense 0.00000824●●●●●●
1119. 91714181 c.8759G>A p.G2920E missense 0.00000824●●●●●●
1120. 91714196 c.8774C>T p.S2925L missense 0.00000824●●●●●●
1121. 91714210 c.8788G>A p.E2930K missense 0.00000824●●●●●●
1122. 91714845 c.8869G>T p.V2957L missense 0.00000824●●●●●●
1123. 91714852 c.8876C>T p.S2959F missense 0.00000824●●●●●●
1124. 91714857 c.8881A>G p.T2961A missense 0.00000824●●●●●●
1125. 91714887 c.8911C>T p.H2971Y missense 0.00000824●●●●●●
1126. 91715546 c.9029A>G p.Y3010C missense 0.00000824●●●●●●
1127. 91715554 c.9037T>C p.S3013P missense 0.00000824●●●●●●
1128. 91715564 c.9047A>G p.H3016R missense 0.00000824●●●●●●
1129. 91715566 c.9049G>A p.E3017K missense 0.00000824●●●●●●
1130. 91715610 c.9093A>T p.Q3031H missense 0.00000824●●●●●●
1131. 91715657 c.9140C>T p.T3047M missense 0.00000824●●●●●●
1132. 91715671 c.9154C>G p.L3052V missense 0.00000824●●●●●●
1133. 91715672 c.9155T>C p.L3052P missense 0.00000824●●●●●●
1134. 91715677 c.9160A>G p.T3054A missense 0.00000824●●●●●●
1135. 91715687 c.9170C>A p.A3057E missense 0.00000824●●●●●●
1136. 91715699 c.9182T>C p.L3061P missense 0.00000824●●●●●●
1137. 91718736 c.9251A>T p.K3084I missense 0.00000824●●●●●●
1138. 91718759 c.9274T>A p.S3092T missense 0.00000824●●●●●●
1139. 91718766 c.9281T>C p.I3094T missense 0.00000824●●●●●●
1140. 91718771 c.9286G>A p.A3096T missense 0.00000824●●●●●●
1141. 91724467 c.9709C>T p.R3237W missense 0.00000824●●●●●●
1142. 91726133 c.9860A>G p.Q3287R missense 0.00000824●●●●●●
1143. 91726137 c.9864G>C p.L3288F missense 0.00000824●●●●●●
1144. 91726141 c.9868G>A p.E3290K missense 0.00000824●●●●●●
1145. 91726162 c.9889G>C p.E3297Q missense 0.00000824●●●●●●
1146. 91726171 c.9898G>A p.V3300I missense 0.00000824●●●●●●
1147. 91726201 c.9928C>T p.R3310W missense 0.00000824●●●●●●
1148. 91726202 c.9929G>C p.R3310P missense 0.00000824●●●●●●
1149. 91726241 c.9968A>C p.H3323P missense 0.00000824●●●●●●
1150. 91726242 c.9969C>A p.H3323Q missense 0.00000824●●●●●●
1151. 91726274 c.10001A>G p.Q3334R missense 0.00000824●●●●●●
1152. 91726279 c.10006C>T p.R3336W missense 0.00000824●●●●●●
1153. 91726288 c.10015T>G p.L3339V missense 0.00000824●●●●●●
1154. 91726979 c.10478C>T p.S3493L missense 0.00000824●●●●●●
1155. 91726996 c.10495A>G p.I3499V missense 0.00000824●●●●●●
1156. 91727024 c.10523G>A p.C3508Y missense 0.00000824●●●●●●
1157. 91729002 c.10715C>A p.P3572H missense 0.00000824●●●●●●
1158. 91729025 c.10738T>A p.S3580T missense 0.00000824●●●●●●
1159. 91729035 c.10748C>T p.S3583L missense 0.00000824●●●●●●
1160. 91729061 c.10774A>C p.N3592H missense 0.00000824●●●●●●
1161. 91729121 c.10834A>G p.M3612V missense 0.00000824●●●●●●
1162. 91729142 c.10855C>G p.Q3619E missense 0.00000824●●●●●●
1163. 91729160 c.10873C>G p.Q3625E missense 0.00000824●●●●●●
1164. 91729161 c.10874A>C p.Q3625P missense 0.00000824●●●●●●
1165. 91730191 c.10918G>A p.G3640S missense 0.00000824●●●●●●
1166. 91730194 c.10921G>A p.G3641S missense 0.00000824●●●●●●
1167. 91730225 c.10952A>C p.E3651A missense 0.00000824●●●●●●
1168. 91730243 c.10970G>C p.R3657T missense 0.00000824●●●●●●
1169. 91730288 c.11015A>C p.E3672A missense 0.00000824●●●●●●
1170. 91730294 c.11021A>G p.Y3674C missense 0.00000824●●●●●●
1171. 91730318 c.11045A>G p.N3682S missense 0.00000824●●●●●●
1172. 91731941 c.11131T>C p.F3711L missense 0.00000824●●●●●●
1173. 91731951 c.11141C>T p.A3714V missense 0.00000824●●●●●●
1174. 91731978 c.11168T>G p.L3723R missense 0.00000824●●●●●●
1175. 91731999 c.11189A>C p.Q3730P missense 0.00000824●●●●●●
1176. 91732011 c.11201A>T p.D3734V missense 0.00000824●●●●●●
1177. 91732012 c.11202T>A p.D3734E missense 0.00000824●●●●●●
1178. 91732022 c.11212G>A p.A3738T missense 0.00000824●●●●●●
1179. 91732040 c.11230G>C p.G3744R missense 0.00000824●●●●●●
1180. 91732040 c.11230G>A p.G3744R missense 0.00000824●●●●●●
1181. 91732041 c.11231G>A p.G3744E missense 0.00000824●●●●●●
1182. 91732044 c.11234G>C p.G3745A missense 0.00000824●●●●●●
1183. 91735014 c.11353T>C p.W3785R missense 0.00000824●●●●●●
1184. 91735059 c.11398G>A p.G3800S missense 0.00000824●●●●●●
1185. 91735065 c.11404G>C p.G3802R missense 0.00000824●●●●●●
1186. 91735074 c.11413C>A p.Q3805K missense 0.00000824●●●●●●
1187. 91736637 c.11447C>G p.S3816C missense 0.00000824●●●●●●
1188. 91736637 c.11447C>A p.S3816Y missense 0.00000824●●●●●●
1189. 91736661 c.11471G>T p.G3824V missense 0.00000824●●●●●●
1190. 91736663 c.11473G>A p.E3825K missense 0.00000824●●●●●●
1191. 91736679 c.11489C>T p.T3830M missense 0.00000824●●●●●●
1192. 91736700 c.11510T>C p.L3837P missense 0.00000824●●●●●●
1193. 91736709 c.11519T>G p.I3840S missense 0.00000824●●●●●●
1194. 91737819 c.11558C>T p.T3853I missense 0.00000824●●●●●●
1195. 91737839 c.11578G>T p.G3860C missense 0.00000824●●●●●●
1196. 91737868 c.11607T>A p.N3869K missense 0.00000824●●●●●●
1197. 91737878 c.11617G>A p.D3873N missense 0.00000824●●●●●●
1198. 91737879 c.11618A>G p.D3873G missense 0.00000824●●●●●●
1199. 91737895 c.11634T>G p.D3878E 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.