AKAP9 variants in ExAC

AKAP9 gene summary
AKAP9 variants in

The table below lists the AKAP9 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. 91707197 c.6945+8C>T splice site 0.40764656●●●●●●
3. 91652178 c.4003_4004insAAC p.Lys1335_Leu1336insGln inframe 0.39892294●●●●●●
4. 91630620 c.1389G>T p.M463I missense 0.38289772●●●●●●
5. 91712698 c.8375A>G p.N2792S missense 0.35934440●●●●●●
6. 91708898 c.7451A>G p.K2484R missense 0.10900423●●●●●●
7. 91646406 c.3827G>A p.R1276Q missense 0.01548369●●●●●●
8. 91659259 c.4199T>C p.M1400T missense 0.01462711●●●●●●
9. 91603115 c.139C>T p.H47Y missense 0.00814343●●●●●●
10. 91729127 c.10840A>G p.M3614V missense 0.00717569●●●●●●
11. 91726604 c.10331A>G p.Q3444R missense 0.00434716●●●●●●
12. 91700267 c.6556T>C p.S2186P missense 0.00377582●●●●●●
13. 91630532 c.1301G>A p.R434Q missense 0.00357547●●●●●●
14. 91694541 c.5978-4A>G splice site 0.00260005●●●●●●
15. 91670136 c.4841G>A p.R1614Q missense 0.00227235●●●●●●
16. 91726202 c.9929G>A p.R3310Q missense 0.00199357●●●●●●
17. 91622303 c.510G>C p.E170D missense 0.00179610●●●●●●
18. 91734981 c.11331-11A>T splice site 0.00174288●●●●●●
19. 91715609 c.9092A>G p.Q3031R missense 0.00171332●●●●●●
20. 91603056 c.80C>T p.S27L missense 0.00166191●●●●●●
21. 91732083 c.11273G>A p.R3758H missense 0.00156093●●●●●●
22. 91726391 c.10118C>A p.S3373Y missense 0.00148923●●●●●●
23. 91712609 c.8286A>C p.K2762N missense 0.00125947●●●●●●
24. 91630202 c.971T>C p.I324T missense 0.00124909●●●●●●
25. 91694604 c.6037G>A p.E2013K missense 0.00116503●●●●●●
26. 91718853 c.9358+10A>G splice site 0.00104184●●●●●●
27. 91682040 c.5369T>G p.V1790G missense 0.00094413●●●●●●
28. 91712808 c.8485G>A p.E2829K missense 0.00094368●●●●●●
29. 91729145 c.10858A>G p.I3620V missense 0.00093119●●●●●●
30. 91667913 c.4519G>C p.D1507H missense 0.00092792●●●●●●
31. 91694701 c.6134A>G p.N2045S missense 0.00091732●●●●●●
32. 91674405 c.5246T>C p.I1749T missense 0.00089818●●●●●●
33. 91726527 c.10254G>C p.Q3418H missense 0.00088126●●●●●●
34. 91727479 c.10664A>T p.D3555V missense 0.00086835●●●●●●
35. 91709220 c.7773A>C p.Q2591H missense 0.00086022●●●●●●
36. 91739463 c.11714T>C p.M3905T missense 0.00078995●●●●●●
37. 91631656 c.2425A>G p.I809V missense 0.00075351●●●●●●
38. 91652302 c.4127G>C p.S1376T missense 0.00074966●●●●●●
39. 91727487 c.10672A>G p.I3558V missense 0.00073840●●●●●●
40. 91630330 c.1099G>A p.V367M missense 0.00072338●●●●●●
41. 91630603 c.1372G>C p.A458P missense 0.00072217●●●●●●
42. 91732035 c.11225G>C p.R3742P missense 0.00070033●●●●●●
43. 91631812 c.2581T>C p.Y861H missense 0.00065468●●●●●●
44. 91709085 c.7638A>G p.I2546M missense 0.00062983●●●●●●
45. 91699336 c.6331-8T>C splice site 0.00062832●●●●●●
46. 91731945 c.11135G>A p.R3712Q missense 0.00062640●●●●●●
47. 91631708 c.2477T>C p.I826T missense 0.00059716●●●●●●
48. 91694743 c.6176A>G p.E2059G missense 0.00055697●●●●●●
49. 91667736 c.4342A>G p.I1448V missense 0.00054917●●●●●●
50. 91726036 c.9763A>G p.R3255G missense 0.00054313●●●●●●
51. 91623968 c.610G>A p.D204N missense 0.00054092●●●●●●
52. 91726960 c.10459G>A p.E3487K missense 0.00053585●●●●●●
53. 91632424 c.3193A>G p.S1065G missense 0.00053143●●●●●●
54. 91736674 c.11484T>A p.H3828Q missense 0.00051901●●●●●●
55. 91632176 c.2945C>A p.S982Y missense 0.00050669●●●●●●
56. 91643610 c.3580G>A p.A1194T missense 0.00048566●●●●●●
57. 91682099 c.5428A>G p.M1810V missense 0.00048050●●●●●●
58. 91670121 c.4826G>A p.R1609K missense 0.00044649●●●●●●
59. 91641854 c.3430T>C p.C1144R missense 0.00043698●●●●●●
60. 91732110 c.11300C>T p.S3767L missense 0.00043198●●●●●●
61. 91659250 c.4190A>G p.Q1397R missense 0.00042028●●●●●●
62. 91714870 c.8894A>G p.Y2965C missense 0.00039568●●●●●●
63. 91660820 c.4246-6A>T splice site 0.00035567●●●●●●
64. 91726313 c.10040A>T p.E3347V missense 0.00035469●●●●●●
65. 91726312 c.10039G>T p.E3347X nonsense 0.00035468●●●●●●
66. 91631959 c.2728G>C p.V910L missense 0.00035359●●●●●●
67. 91712668 c.8345C>T p.T2782I missense 0.00033183●●●●●●
68. 91708935 c.7488T>G p.N2496K missense 0.00030769●●●●●●
69. 91671490 c.5048C>T p.T1683M missense 0.00030551●●●●●●
70. 91660839 c.4259T>G p.F1420C missense 0.00030545●●●●●●
71. 91651578 c.3864G>A p.M1288I missense 0.00028853●●●●●●
72. 91630882 c.1651A>G p.I551V missense 0.00028153●●●●●●
73. 91659223 c.4163C>T p.S1388L missense 0.00026371●●●●●●
74. 91724447 c.9689A>G p.K3230R missense 0.00026369●●●●●●
75. 91726907 c.10406C>T p.T3469M missense 0.00025681●●●●●●
76. 91732147 c.11330+7A>G splice site 0.00025228●●●●●●
77. 91603264 c.288G>T p.E96D missense 0.00024786●●●●●●
78. 91690697 c.5725G>A p.A1909T missense 0.00024778●●●●●●
79. 91690640 c.5668A>T p.T1890S missense 0.00023926●●●●●●
80. 91724455 c.9697C>T p.R3233C missense 0.00023076●●●●●●
81. 91674443 c.5284A>G p.K1762E missense 0.00023071●●●●●●
82. 91715644 c.9127G>A p.A3043T missense 0.00023062●●●●●●
83. 91694613 c.6046C>T p.R2016C missense 0.00022564●●●●●●
84. 91708587 c.7140A>C p.E2380D missense 0.00022360●●●●●●
85. 91712477 c.8161-7G>A splice site 0.00021746●●●●●●
86. 91725996 c.9730-7G>A splice site 0.00021239●●●●●●
87. 91732039 c.11229G>T p.M3743I missense 0.00020640●●●●●●
88. 91631840 c.2609G>A p.C870Y missense 0.00020170●●●●●●
89. 91708613 c.7166A>G p.D2389G missense 0.00019087●●●●●●
90. 91739445 c.11696C>T p.T3899I missense 0.00018701●●●●●●
91. 91713963 c.8656A>G p.I2886V missense 0.00018378●●●●●●
92. 91671427 c.4985C>T p.A1662V missense 0.00017334●●●●●●
93. 91714951 c.8975C>T p.S2992L missense 0.00016958●●●●●●
94. 91682075 c.5404G>A p.D1802N missense 0.00016659●●●●●●
95. 91732107 c.11297G>A p.R3766Q missense 0.00014937●●●●●●
96. 91714169 c.8747C>A p.T2916K missense 0.00014841●●●●●●
97. 91651600 c.3886A>G p.N1296D missense 0.00014838●●●●●●
98. 91739456 c.11707G>A p.A3903T missense 0.00014802●●●●●●
99. 91630873 c.1642A>G p.R548G missense 0.00014075●●●●●●
100. 91682214 c.5543C>G p.S1848C missense 0.00014067●●●●●●
101. 91625067 c.883A>G p.T295A missense 0.00013708●●●●●●
102. 91712512 c.8189A>G p.Q2730R missense 0.00013295●●●●●●
103. 91726103 c.9830T>C p.I3277T missense 0.00013237●●●●●●
104. 91700229 c.6518G>A p.R2173Q missense 0.00013237●●●●●●
105. 91603134 c.158A>G p.H53R missense 0.00013192●●●●●●
106. 91641872 c.3448C>T p.L1150F missense 0.00013191●●●●●●
107. 91735023 c.11362G>C p.V3788L missense 0.00013183●●●●●●
108. 91709333 c.7886T>C p.V2629A missense 0.00012954●●●●●●
109. 91708655 c.7208A>G p.E2403G missense 0.00012493●●●●●●
110. 91622234 c.441A>T p.E147D missense 0.00012391●●●●●●
111. 91690694 c.5722A>G p.R1908G missense 0.00012386●●●●●●
112. 91630389 c.1158A>T p.K386N missense 0.00012301●●●●●●
113. 91670215 c.4917+3A>C splice site 0.00012160●●●●●●
114. 91622257 c.464C>A p.T155N missense 0.00011546●●●●●●
115. 91682037 c.5369-3T>C splice site 0.00011068●●●●●●
116. 91631542 c.2311G>A p.A771T missense 0.00010848●●●●●●
117. 91630565 c.1334T>C p.I445T missense 0.00010801●●●●●●
118. 91603095 c.119G>A p.R40K missense 0.00010762●●●●●●
119. 91690677 c.5705G>A p.R1902H missense 0.00010733●●●●●●
120. 91570454 c.41A>C p.K14T missense 0.00010732●●●●●●
121. 91672040 c.5117A>G p.D1706G missense 0.00010727●●●●●●
122. 91630192 c.961A>G p.K321E missense 0.00010544●●●●●●
123. 91646361 c.3782A>G p.N1261S missense 0.00010118●●●●●●
124. 91631131 c.1900G>A p.E634K missense 0.00010006●●●●●●
125. 91695832 c.6302A>C p.Q2101P missense 0.00009942●●●●●●
126. 91630916 c.1685A>G p.H562R missense 0.00009939●●●●●●
127. 91700244 c.6533C>T p.A2178V missense 0.00009904●●●●●●
128. 91622249 c.456C>A p.D152E missense 0.00009900●●●●●●
129. 91732041 c.11231G>C p.G3744A missense 0.00009888●●●●●●
130. 91732044 c.11234G>T p.G3745V missense 0.00009888●●●●●●
131. 91736709 c.11519T>C p.I3840T missense 0.00009888●●●●●●
132. 91736684 c.11494C>T p.R3832C missense 0.00009886●●●●●●
133. 91623960 c.602A>G p.K201R missense 0.00009437●●●●●●
134. 91631167 c.1936A>G p.I646V missense 0.00009217●●●●●●
135. 91712478 c.8161-6T>A splice site 0.00009198●●●●●●
136. 91695863 c.6330+3A>G splice site 0.00009130●●●●●●
137. 91712565 c.8242T>C p.S2748P missense 0.00009111●●●●●●
138. 91708757 c.7310G>A p.R2437H missense 0.00008306●●●●●●
139. 91708761 c.7314A>T p.E2438D missense 0.00008304●●●●●●
140. 91707140 c.6896A>G p.E2299G missense 0.00008299●●●●●●
141. 91630842 c.1611G>T p.L537F missense 0.00008287●●●●●●
142. 91713984 c.8677G>C p.D2893H missense 0.00008285●●●●●●
143. 91707190 c.6945+1G>A essential splice site 0.00008275●●●●●●
144. 91690574 c.5602C>T p.L1868F missense 0.00008266●●●●●●
145. 91690709 c.5737C>G p.L1913V missense 0.00008266●●●●●●
146. 91660833 c.4253G>A p.G1418D missense 0.00008258●●●●●●
147. 91718693 c.9214-6T>C splice site 0.00008258●●●●●●
148. 91671436 c.4994A>T p.Q1665L missense 0.00008253●●●●●●
149. 91690652 c.5680A>G p.K1894E missense 0.00008252●●●●●●
150. 91623956 c.598A>G p.I200V missense 0.00007792●●●●●●
151. 91631461 c.2230G>A p.E744K missense 0.00007659●●●●●●
152. 91726522 c.10249C>T p.R3417C missense 0.00007549●●●●●●
153. 91630739 c.1508A>G p.Q503R missense 0.00007489●●●●●●
154. 91707142 c.6898C>G p.Q2300E missense 0.00007474●●●●●●
155. 91709149 c.7702G>A p.A2568T missense 0.00007450●●●●●●
156. 91715549 c.9032A>G p.D3011G missense 0.00007419●●●●●●
157. 91570423 c.10G>C p.E4Q missense 0.00007417●●●●●●
158. 91735012 c.11351G>A p.R3784Q missense 0.00007416●●●●●●
159. 91715654 c.9137G>A p.R3046Q missense 0.00007413●●●●●●
160. 91709427 c.7980A>C p.K2660N missense 0.00007178●●●●●●
161. 91646386 c.3807A>T p.K1269N missense 0.00006698●●●●●●
162. 91708730 c.7283A>T p.Q2428L missense 0.00006662●●●●●●
163. 91641774 c.3350G>A p.R1117H missense 0.00006602●●●●●●
164. 91690608 c.5636T>C p.M1879T missense 0.00006602●●●●●●
165. 91603211 c.235C>T p.P79S missense 0.00006598●●●●●●
166. 91659255 c.4195A>G p.T1399A missense 0.00006593●●●●●●
167. 91735021 c.11360G>A p.R3787Q missense 0.00006592●●●●●●
168. 91736685 c.11495G>A p.R3832H missense 0.00006591●●●●●●
169. 91718834 c.9349C>A p.P3117T missense 0.00005846●●●●●●
170. 91708891 c.7444T>C p.Y2482H missense 0.00005825●●●●●●
171. 91732115 c.11305G>A p.V3769I missense 0.00005825●●●●●●
172. 91714125 c.8711-8T>C splice site 0.00005816●●●●●●
173. 91718822 c.9337G>A p.E3113K missense 0.00005807●●●●●●
174. 91670135 c.4840C>T p.R1614W missense 0.00005802●●●●●●
175. 91624032 c.674T>C p.M225T missense 0.00005795●●●●●●
176. 91682120 c.5449G>A p.E1817K missense 0.00005786●●●●●●
177. 91651648 c.3934A>C p.T1312P missense 0.00005780●●●●●●
178. 91641819 c.3395G>A p.R1132H missense 0.00005771●●●●●●
179. 91674410 c.5251C>T p.R1751C missense 0.00005768●●●●●●
180. 91724441 c.9683A>G p.K3228R missense 0.00005768●●●●●●
181. 91622340 c.547G>A p.V183I missense 0.00005768●●●●●●
182. 91726243 c.9970G>A p.A3324T missense 0.00005767●●●●●●
183. 91715630 c.9113G>A p.R3038H missense 0.00005766●●●●●●
184. 91706232 c.6676G>A p.V2226I missense 0.00005283●●●●●●
185. 91631867 c.2636A>G p.E879G missense 0.00005050●●●●●●
186. 91712791 c.8468A>G p.Q2823R missense 0.00004993●●●●●●
187. 91632182 c.2951A>G p.K984R missense 0.00004982●●●●●●
188. 91732107 c.11297G>T p.R3766L missense 0.00004979●●●●●●
189. 91712696 c.8373C>G p.S2791R missense 0.00004978●●●●●●
190. 91732101 c.11291G>A p.R3764K missense 0.00004972●●●●●●
191. 91700331 c.6612+8G>T splice site 0.00004962●●●●●●
192. 91652209 c.4034G>A p.S1345N missense 0.00004954●●●●●●
193. 91671481 c.5039A>G p.N1680S missense 0.00004953●●●●●●
194. 91671441 c.4999T>C p.S1667P missense 0.00004951●●●●●●
195. 91622254 c.461C>T p.P154L missense 0.00004950●●●●●●
196. 91734994 c.11333T>A p.M3778K missense 0.00004949●●●●●●
197. 91726987 c.10486G>A p.A3496T missense 0.00004945●●●●●●
198. 91674431 c.5272G>C p.D1758H missense 0.00004944●●●●●●
199. 91707050 c.6806A>T p.D2269V missense 0.00004944●●●●●●
200. 91652257 c.4082A>T p.Y1361F missense 0.00004943●●●●●●
201. 91726216 c.9943A>G p.T3315A missense 0.00004943●●●●●●
202. 91730213 c.10940T>C p.I3647T missense 0.00004943●●●●●●
203. 91729028 c.10741T>G p.C3581G missense 0.00004942●●●●●●
204. 91645545 c.3715G>T p.D1239Y missense 0.00004928●●●●●●
205. 91630298 c.1067A>T p.D356V missense 0.00004582●●●●●●
206. 91727503 c.10688A>G p.K3563R missense 0.00004317●●●●●●
207. 91668025 c.4631G>C p.C1544S missense 0.00004226●●●●●●
208. 91709263 c.7816T>G p.L2606V missense 0.00004176●●●●●●
209. 91630474 c.1243G>A p.E415K missense 0.00004171●●●●●●
210. 91691579 c.5765-9G>A splice site 0.00004171●●●●●●
211. 91712497 c.8174A>G p.N2725S missense 0.00004164●●●●●●
212. 91732113 c.11303C>T p.A3768V missense 0.00004158●●●●●●
213. 91712544 c.8221G>A p.A2741T missense 0.00004146●●●●●●
214. 91709065 c.7618A>G p.I2540V missense 0.00004146●●●●●●
215. 91630628 c.1397G>A p.R466Q missense 0.00004143●●●●●●
216. 91691693 c.5870A>G p.N1957S missense 0.00004133●●●●●●
217. 91732039 c.11229G>A p.M3743I missense 0.00004128●●●●●●
218. 91732080 c.11270A>G p.N3757S missense 0.00004128●●●●●●
219. 91691656 c.5833A>G p.I1945V missense 0.00004127●●●●●●
220. 91622253 c.460C>A p.P154T missense 0.00004125●●●●●●
221. 91732069 c.11259G>C p.E3753D missense 0.00004123●●●●●●
222. 91724413 c.9655G>C p.E3219Q missense 0.00004121●●●●●●
223. 91726154 c.9881G>A p.R3294Q missense 0.00004119●●●●●●
224. 91652134 c.3959A>G p.N1320S missense 0.00004114●●●●●●
225. 91630328 c.1097T>C p.I366T missense 0.00003697●●●●●●
226. 91670179 c.4884A>C p.E1628D missense 0.00003633●●●●●●
227. 91726634 c.10361G>A p.R3454Q missense 0.00003533●●●●●●
228. 91708466 c.7019G>A p.C2340Y missense 0.00003390●●●●●●
229. 91706283 c.6727C>T p.R2243C missense 0.00003382●●●●●●
230. 91667998 c.4604C>G p.P1535R missense 0.00003375●●●●●●
231. 91671369 c.4927A>C p.I1643L missense 0.00003340●●●●●●
232. 91630457 c.1226A>C p.H409P missense 0.00003339●●●●●●
233. 91630490 c.1259A>G p.Q420R missense 0.00003334●●●●●●
234. 91630780 c.1549G>C p.G517R missense 0.00003326●●●●●●
235. 91711972 c.8156T>G p.L2719R missense 0.00003321●●●●●●
236. 91712637 c.8314A>G p.I2772V missense 0.00003316●●●●●●
237. 91722498 c.9446A>G p.E3149G missense 0.00003314●●●●●●
238. 91718814 c.9329G>A p.R3110K missense 0.00003314●●●●●●
239. 91624936 c.752T>G p.L251R missense 0.00003313●●●●●●
240. 91722459 c.9407T>C p.M3136T missense 0.00003311●●●●●●
241. 91726391 c.10118C>G p.S3373C missense 0.00003309●●●●●●
242. 91708543 c.7096A>G p.I2366V missense 0.00003308●●●●●●
243. 91603101 c.125C>T p.T42M missense 0.00003307●●●●●●
244. 91670109 c.4814C>T p.T1605M missense 0.00003306●●●●●●
245. 91726346 c.10073G>A p.R3358H missense 0.00003304●●●●●●
246. 91682139 c.5468A>T p.Q1823L missense 0.00003303●●●●●●
247. 91674531 c.5368+4C>T splice site 0.00003303●●●●●●
248. 91671477 c.5035C>T p.R1679C missense 0.00003302●●●●●●
249. 91674339 c.5180C>T p.A1727V missense 0.00003301●●●●●●
250. 91641917 c.3493C>A p.H1165N missense 0.00003301●●●●●●
251. 91660850 c.4270G>A p.E1424K missense 0.00003301●●●●●●
252. 91690610 c.5638C>T p.R1880C missense 0.00003301●●●●●●
253. 91674515 c.5356G>C p.E1786Q missense 0.00003300●●●●●●
254. 91660854 c.4274A>C p.E1425A missense 0.00003300●●●●●●
255. 91674515 c.5356G>A p.E1786K missense 0.00003300●●●●●●
256. 91718790 c.9305A>G p.N3102S missense 0.00003300●●●●●●
257. 91603187 c.211C>G p.Q71E missense 0.00003299●●●●●●
258. 91718714 c.9229G>A p.A3077T missense 0.00003299●●●●●●
259. 91726300 c.10027G>A p.D3343N missense 0.00003299●●●●●●
260. 91641828 c.3404T>C p.M1135T missense 0.00003298●●●●●●
261. 91652229 c.4054C>G p.Q1352E missense 0.00003297●●●●●●
262. 91737905 c.11644C>T p.R3882W missense 0.00003297●●●●●●
263. 91726280 c.10007G>A p.R3336Q missense 0.00003297●●●●●●
264. 91735009 c.11348G>A p.R3783Q missense 0.00003296●●●●●●
265. 91732040 c.11230G>T p.G3744W missense 0.00003296●●●●●●
266. 91724422 c.9664T>G p.W3222G missense 0.00003296●●●●●●
267. 91732035 c.11225G>A p.R3742Q missense 0.00003296●●●●●●
268. 91737810 c.11549A>G p.Y3850C missense 0.00003295●●●●●●
269. 91737872 c.11611G>A p.D3871N missense 0.00003295●●●●●●
270. 91728998 c.10714-3C>T splice site 0.00003295●●●●●●
271. 91652169 c.3994G>C p.E1332Q missense 0.00003119●●●●●●
272. 91645538 c.3708A>T p.E1236D missense 0.00002906●●●●●●
273. 91714998 c.9022G>A p.E3008K missense 0.00002905●●●●●●
274. 91709368 c.7921_7923delAAG p.Lys2641del inframe 0.00002721●●●●●●
275. 91631382 c.2151G>A p.M717I missense 0.00002625●●●●●●
276. 91726624 c.10351G>A p.E3451K missense 0.00002621●●●●●●
277. 91645476 c.3646C>T p.P1216S missense 0.00002578●●●●●●
278. 91631272 c.2041A>G p.M681V missense 0.00002573●●●●●●
279. 91645470 c.3640T>C p.Y1214H missense 0.00002568●●●●●●
280. 91643593 c.3563T>C p.I1188T missense 0.00002567●●●●●●
281. 91726600 c.10327T>C p.F3443L missense 0.00002564●●●●●●
282. 91682054 c.5383A>G p.I1795V missense 0.00002554●●●●●●
283. 91668066 c.4672A>G p.T1558A missense 0.00002546●●●●●●
284. 91727428 c.10613A>G p.Q3538R missense 0.00002546●●●●●●
285. 91668019 c.4625A>G p.K1542R missense 0.00002536●●●●●●
286. 91712908 c.8585A>G p.Q2862R missense 0.00002533●●●●●●
287. 91667992 c.4598G>A p.S1533N missense 0.00002527●●●●●●
288. 91631849 c.2618A>G p.K873R missense 0.00002522●●●●●●
289. 91623974 c.616A>G p.I206V missense 0.00002521●●●●●●
290. 91631517 c.2286_2287delAG p.Asn764Ter frameshift 0.00002511●●●●●●
291. 91630435 c.1204G>A p.E402K missense 0.00002508●●●●●●
292. 91632025 c.2794G>A p.E932K missense 0.00002508●●●●●●
293. 91631059 c.1828G>A p.V610M missense 0.00002508●●●●●●
294. 91631159 c.1928A>T p.D643V missense 0.00002508●●●●●●
295. 91713961 c.8654C>T p.S2885L missense 0.00002508●●●●●●
296. 91724344 c.9586G>T p.V3196F missense 0.00002504●●●●●●
297. 91631090 c.1859C>A p.A620D missense 0.00002503●●●●●●
298. 91722429 c.9377T>C p.I3126T missense 0.00002502●●●●●●
299. 91691581 c.5765-7A>G splice site 0.00002500●●●●●●
300. 91667947 c.4553G>A p.S1518N missense 0.00002499●●●●●●
301. 91694654 c.6087T>G p.D2029E missense 0.00002497●●●●●●
302. 91682079 c.5408T>A p.M1803K missense 0.00002496●●●●●●
303. 91603085 c.109A>G p.K37E missense 0.00002494●●●●●●
304. 91712734 c.8411T>C p.I2804T missense 0.00002492●●●●●●
305. 91632395 c.3164C>A p.S1055Y missense 0.00002491●●●●●●
306. 91712529 c.8206G>A p.V2736I missense 0.00002490●●●●●●
307. 91709012 c.7565T>G p.I2522R missense 0.00002490●●●●●●
308. 91726418 c.10145A>C p.K3382T missense 0.00002488●●●●●●
309. 91667926 c.4532_4534delAAG p.Glu1513del inframe 0.00002488●●●●●●
310. 91709075 c.7628T>C p.L2543P missense 0.00002487●●●●●●
311. 91630826 c.1595A>T p.D532V missense 0.00002487●●●●●●
312. 91631612 c.2381A>G p.H794R missense 0.00002487●●●●●●
313. 91630913 c.1682C>T p.A561V missense 0.00002485●●●●●●
314. 91708594 c.7147A>C p.S2383R missense 0.00002485●●●●●●
315. 91709237 c.7790T>G p.L2597W missense 0.00002485●●●●●●
316. 91641753 c.3329G>C p.R1110T missense 0.00002484●●●●●●
317. 91722449 c.9397A>G p.M3133V missense 0.00002484●●●●●●
318. 91641755 c.3331C>G p.L1111V missense 0.00002482●●●●●●
319. 91674311 c.5163-11T>C splice site 0.00002481●●●●●●
320. 91622224 c.431C>G p.S144C missense 0.00002481●●●●●●
321. 91651652 c.3938A>G p.N1313S missense 0.00002478●●●●●●
322. 91714807 c.8833-2A>C essential splice site 0.00002478●●●●●●
323. 91660916 c.4336A>C p.K1446Q missense 0.00002477●●●●●●
324. 91671478 c.5036G>A p.R1679H missense 0.00002477●●●●●●
325. 91621530 c.405+5A>G splice site 0.00002477●●●●●●
326. 91651646 c.3932T>A p.M1311K missense 0.00002476●●●●●●
327. 91660908 c.4328A>T p.E1443V missense 0.00002476●●●●●●
328. 91660911 c.4331T>C p.V1444A missense 0.00002476●●●●●●
329. 91690592 c.5620A>T p.T1874S missense 0.00002476●●●●●●
330. 91660862 c.4282A>G p.I1428V missense 0.00002475●●●●●●
331. 91603241 c.265A>G p.S89G missense 0.00002475●●●●●●
332. 91690611 c.5639G>A p.R1880H missense 0.00002475●●●●●●
333. 91690641 c.5669C>G p.T1890R missense 0.00002475●●●●●●
334. 91726928 c.10427G>A p.R3476K missense 0.00002475●●●●●●
335. 91641893 c.3469A>G p.K1157E missense 0.00002474●●●●●●
336. 91603218 c.242C>A p.S81Y missense 0.00002474●●●●●●
337. 91718720 c.9235A>G p.M3079V missense 0.00002474●●●●●●
338. 91729167 c.10880G>A p.G3627E missense 0.00002474●●●●●●
339. 91622278 c.485G>C p.S162T missense 0.00002473●●●●●●
340. 91641818 c.3394C>T p.R1132C missense 0.00002473●●●●●●
341. 91735003 c.11342T>C p.L3781S missense 0.00002473●●●●●●
342. 91652317 c.4142C>T p.P1381L missense 0.00002472●●●●●●
343. 91622347 c.554A>G p.Y185C missense 0.00002472●●●●●●
344. 91732034 c.11224C>T p.R3742W missense 0.00002472●●●●●●
345. 91622302 c.509A>T p.E170V missense 0.00002472●●●●●●
346. 91732044 c.11234G>A p.G3745E missense 0.00002472●●●●●●
347. 91726253 c.9980A>G p.Q3327R missense 0.00002472●●●●●●
348. 91715632 c.9115A>G p.S3039G missense 0.00002471●●●●●●
349. 91729080 c.10793A>G p.H3598R missense 0.00002471●●●●●●
350. 91731987 c.11177T>C p.L3726P missense 0.00002471●●●●●●
351. 91732005 c.11195G>A p.C3732Y missense 0.00002471●●●●●●
352. 91709471 c.8019+5G>C splice site 0.00002197●●●●●●
353. 91708417 c.6970A>G p.I2324V missense 0.00002013●●●●●●
354. 91727532 c.10713+4A>G splice site 0.00002005●●●●●●
355. 91709467 c.8019+1_8019+4delGTTA essential splice site 0.00002002●●●●●●
356. 91709402 c.7955G>T p.G2652V missense 0.00001947●●●●●●
357. 91670192 c.4897C>T p.L1633F missense 0.00001938●●●●●●
358. 91645530 c.3700A>G p.I1234V missense 0.00001907●●●●●●
359. 91726670 c.10397A>T p.E3466V missense 0.00001889●●●●●●
360. 91646345 c.3766A>G p.M1256V missense 0.00001878●●●●●●
361. 91708386 c.6946-7delT splice site 0.00001876●●●●●●
362. 91646346 c.3767T>G p.M1256R missense 0.00001867●●●●●●
363. 91603022 c.49-3T>C splice site 0.00001865●●●●●●
364. 91652154 c.3979T>C p.S1327P missense 0.00001863●●●●●●
365. 91694762 c.6195G>A p.M2065I missense 0.00001853●●●●●●
366. 91643622 c.3592G>C p.E1198Q missense 0.00001796●●●●●●
367. 91646351 c.3772A>G p.T1258A missense 0.00001794●●●●●●
368. 91625074 c.890A>G p.Q297R missense 0.00001746●●●●●●
369. 91631344 c.2113T>G p.L705V missense 0.00001742●●●●●●
370. 91631422 c.2191C>T p.L731F missense 0.00001737●●●●●●
371. 91722634 c.9578+4T>C splice site 0.00001737●●●●●●
372. 91603038 c.62G>A p.R21Q missense 0.00001725●●●●●●
373. 91706248 c.6692T>C p.M2231T missense 0.00001720●●●●●●
374. 91646397 c.3818T>C p.L1273P missense 0.00001713●●●●●●
375. 91645449 c.3619T>C p.C1207R missense 0.00001712●●●●●●
376. 91623962 c.604C>G p.Q202E missense 0.00001708●●●●●●
377. 91631459 c.2228_2230delAAG p.Glu744del inframe 0.00001704●●●●●●
378. 91631215 c.1984C>T p.H662Y missense 0.00001701●●●●●●
379. 91722623 c.9571G>A p.A3191T missense 0.00001698●●●●●●
380. 91712901 c.8578G>A p.A2860T missense 0.00001692●●●●●●
381. 91646393 c.3814G>A p.V1272I missense 0.00001692●●●●●●
382. 91646394 c.3815delT p.Val1272AspfsTer6 frameshift 0.00001692●●●●●●
383. 91667736 c.4342A>T p.I1448F missense 0.00001690●●●●●●
384. 91712859 c.8536C>T p.H2846Y missense 0.00001690●●●●●●
385. 91724330 c.9579-7G>A splice site 0.00001688●●●●●●
386. 91694593 c.6026A>G p.Q2009R missense 0.00001687●●●●●●
387. 91724331 c.9579-6A>T splice site 0.00001686●●●●●●
388. 91631917 c.2686C>G p.L896V missense 0.00001685●●●●●●
389. 91667988 c.4594A>G p.N1532D missense 0.00001683●●●●●●
390. 91609633 c.337G>T p.D113Y missense 0.00001683●●●●●●
391. 91712936 c.8613G>C p.L2871F missense 0.00001683●●●●●●
392. 91631849 c.2618A>C p.K873T missense 0.00001681●●●●●●
393. 91646388 c.3809T>A p.L1270H missense 0.00001681●●●●●●
394. 91682252 c.5581A>G p.I1861V missense 0.00001681●●●●●●
395. 91694730 c.6163A>C p.N2055H missense 0.00001681●●●●●●
396. 91670154 c.4859G>A p.R1620Q missense 0.00001678●●●●●●
397. 91726523 c.10250G>A p.R3417H missense 0.00001678●●●●●●
398. 91631802 c.2571T>A p.F857L missense 0.00001677●●●●●●
399. 91632005 c.2774C>G p.A925G missense 0.00001677●●●●●●
400. 91727458 c.10643T>C p.I3548T missense 0.00001676●●●●●●
401. 91667964 c.4570C>T p.H1524Y missense 0.00001675●●●●●●
402. 91632530 c.3299A>G p.N1100S missense 0.00001674●●●●●●
403. 91631780 c.2549T>C p.F850S missense 0.00001674●●●●●●
404. 91632021 c.2790G>C p.M930I missense 0.00001674●●●●●●
405. 91709268 c.7821A>T p.R2607S missense 0.00001674●●●●●●
406. 91630432 c.1201G>T p.V401F missense 0.00001673●●●●●●
407. 91726493 c.10220A>C p.E3407A missense 0.00001672●●●●●●
408. 91631072 c.1841T>C p.M614T missense 0.00001671●●●●●●
409. 91694614 c.6047G>A p.R2016H missense 0.00001671●●●●●●
410. 91713963 c.8656A>C p.I2886L missense 0.00001671●●●●●●
411. 91630452 c.1221A>T p.R407S missense 0.00001670●●●●●●
412. 91682240 c.5569C>T p.L1857F missense 0.00001670●●●●●●
413. 91623984 c.626A>G p.Q209R missense 0.00001670●●●●●●
414. 91671369 c.4927A>G p.I1643V missense 0.00001670●●●●●●
415. 91623985 c.627G>C p.Q209H missense 0.00001669●●●●●●
416. 91726042 c.9769C>T p.L3257F missense 0.00001669●●●●●●
417. 91671371 c.4929A>G p.I1643M missense 0.00001668●●●●●●
418. 91732121 c.11311G>A p.V3771I missense 0.00001668●●●●●●
419. 91708660 c.7213G>A p.A2405T missense 0.00001667●●●●●●
420. 91630484 c.1253T>C p.I418T missense 0.00001667●●●●●●
421. 91632067 c.2836G>C p.E946Q missense 0.00001667●●●●●●
422. 91631555 c.2324C>T p.A775V missense 0.00001666●●●●●●
423. 91708658 c.7211C>T p.T2404I missense 0.00001666●●●●●●
424. 91630507 c.1276A>G p.T426A missense 0.00001665●●●●●●
425. 91630519 c.1288T>A p.L430I missense 0.00001665●●●●●●
426. 91694655 c.6088G>C p.V2030L missense 0.00001665●●●●●●
427. 91630714 c.1483A>G p.I495V missense 0.00001664●●●●●●
428. 91630520 c.1289T>A p.L430X nonsense 0.00001664●●●●●●
429. 91631560 c.2329A>C p.N777H missense 0.00001664●●●●●●
430. 91708637 c.7190C>G p.A2397G missense 0.00001663●●●●●●
431. 91630702 c.1471A>C p.M491L missense 0.00001663●●●●●●
432. 91691770 c.5947A>C p.M1983L missense 0.00001663●●●●●●
433. 91632161 c.2930A>G p.N977S missense 0.00001662●●●●●●
434. 91712784 c.8461A>G p.I2821V missense 0.00001662●●●●●●
435. 91630541 c.1310T>G p.L437R missense 0.00001662●●●●●●
436. 91708756 c.7309C>T p.R2437C missense 0.00001662●●●●●●
437. 91726436 c.10163G>C p.R3388T missense 0.00001662●●●●●●
438. 91632398 c.3167T>C p.F1056S missense 0.00001661●●●●●●
439. 91632471 c.3240G>T p.K1080N missense 0.00001661●●●●●●
440. 91699389 c.6376A>C p.S2126R missense 0.00001661●●●●●●
441. 91708802 c.7355A>C p.N2452T missense 0.00001661●●●●●●
442. 91708982 c.7535A>T p.D2512V missense 0.00001661●●●●●●
443. 91630810 c.1579C>G p.Q527E missense 0.00001660●●●●●●
444. 91631593 c.2362G>A p.E788K missense 0.00001660●●●●●●
445. 91691590 c.5767G>A p.V1923I missense 0.00001660●●●●●●
446. 91709039 c.7592T>C p.F2531S missense 0.00001659●●●●●●
447. 91711965 c.8149G>C p.E2717Q missense 0.00001659●●●●●●
448. 91712535 c.8212G>C p.D2738H missense 0.00001659●●●●●●
449. 91732106 c.11296C>T p.R3766W missense 0.00001659●●●●●●
450. 91711963 c.8147_8149delAAG p.Glu2718del inframe 0.00001659●●●●●●
451. 91711959 c.8143C>T p.L2715F missense 0.00001658●●●●●●
452. 91631615 c.2384C>G p.T795S missense 0.00001658●●●●●●
453. 91631615 c.2384C>T p.T795I missense 0.00001658●●●●●●
454. 91631704 c.2473C>G p.L825V missense 0.00001658●●●●●●
455. 91699399 c.6386T>G p.L2129W missense 0.00001658●●●●●●
456. 91651664 c.3950T>C p.I1317T missense 0.00001657●●●●●●
457. 91712604 c.8281A>G p.S2761G missense 0.00001657●●●●●●
458. 91630931 c.1700C>T p.T567I missense 0.00001657●●●●●●
459. 91709122 c.7675A>C p.I2559L missense 0.00001657●●●●●●
460. 91630858 c.1627_1632delCAGATT p.Ile544_Gln545del inframe 0.00001657●●●●●●
461. 91691599 c.5776_5777insATAAGA p.Gly1926delinsAspLysSer inframe 0.00001657●●●●●●
462. 91622220 c.427G>C p.D143H missense 0.00001656●●●●●●
463. 91630883 c.1652T>C p.I551T missense 0.00001656●●●●●●
464. 91722484 c.9432_9435delAGAC p.Asp3145GlufsTer9 frameshift 0.00001656●●●●●●
465. 91708510 c.7063G>C p.V2355L missense 0.00001655●●●●●●
466. 91691713 c.5890G>A p.A1964T missense 0.00001655●●●●●●
467. 91708562 c.7115T>C p.M2372T missense 0.00001655●●●●●●
468. 91709225 c.7778G>A p.R2593K missense 0.00001655●●●●●●
469. 91709227 c.7780G>A p.E2594K missense 0.00001655●●●●●●
470. 91632325 c.3094G>A p.E1032K missense 0.00001654●●●●●●
471. 91709188 c.7741C>T p.P2581S missense 0.00001654●●●●●●
472. 91652198 c.4023A>T p.Q1341H missense 0.00001654●●●●●●
473. 91667882 c.4488T>A p.D1496E missense 0.00001654●●●●●●
474. 91682114 c.5443A>G p.T1815A missense 0.00001654●●●●●●
475. 91691699 c.5876T>C p.L1959S missense 0.00001654●●●●●●
476. 91699414 c.6401A>G p.Q2134R missense 0.00001654●●●●●●
477. 91708553 c.7106A>G p.K2369R missense 0.00001654●●●●●●
478. 91708561 c.7114A>G p.M2372V missense 0.00001654●●●●●●
479. 91709189 c.7742C>G p.P2581R missense 0.00001654●●●●●●
480. 91707002 c.6766-8G>A splice site 0.00001654●●●●●●
481. 91625005 c.821A>G p.Q274R missense 0.00001653●●●●●●
482. 91570466 c.48+5G>A splice site 0.00001653●●●●●●
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484. 91711928 c.8112A>C p.E2704D missense 0.00001653●●●●●●
485. 91632314 c.3083G>A p.S1028N missense 0.00001652●●●●●●
486. 91603261 c.285T>A p.H95Q missense 0.00001652●●●●●●
487. 91603263 c.287A>C p.E96A missense 0.00001652●●●●●●
488. 91667851 c.4457A>G p.H1486R missense 0.00001652●●●●●●
489. 91711869 c.8053A>G p.S2685G missense 0.00001652●●●●●●
490. 91711890 c.8074G>A p.E2692K missense 0.00001652●●●●●●
491. 91718802 c.9317T>C p.I3106T missense 0.00001652●●●●●●
492. 91726345 c.10072C>T p.R3358C missense 0.00001652●●●●●●
493. 91667845 c.4451_4453delAAC p.Gln1485del inframe 0.00001652●●●●●●
494. 91622377 c.576+8T>C splice site 0.00001652●●●●●●
495. 91714260 c.8832+6A>C splice site 0.00001652●●●●●●
496. 91622373 c.576+4T>G splice site 0.00001651●●●●●●
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498. 91621478 c.358G>A p.G120S missense 0.00001651●●●●●●
499. 91621512 c.392C>T p.T131I missense 0.00001651●●●●●●
500. 91621514 c.394A>G p.N132D missense 0.00001651●●●●●●
501. 91632286 c.3055T>G p.L1019V missense 0.00001651●●●●●●
502. 91641921 c.3497A>C p.Q1166P missense 0.00001651●●●●●●
503. 91690671 c.5699G>A p.R1900Q missense 0.00001651●●●●●●
504. 91732039 c.11229G>C p.M3743I missense 0.00001651●●●●●●
505. 91660865 c.4285G>A p.V1429I missense 0.00001650●●●●●●
506. 91718702 c.9217G>A p.V3073I missense 0.00001650●●●●●●
507. 91727068 c.10567G>C p.A3523P missense 0.00001650●●●●●●
508. 91660862 c.4282A>T p.I1428F missense 0.00001650●●●●●●
509. 91726124 c.9851A>G p.Y3284C missense 0.00001650●●●●●●
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511. 91570433 c.20A>G p.Q7R missense 0.00001649●●●●●●
512. 91727048 c.10547G>A p.R3516K missense 0.00001649●●●●●●
513. 91699452 c.6439G>C p.E2147Q missense 0.00001649●●●●●●
514. 91718778 c.9293A>G p.H3098R missense 0.00001649●●●●●●
515. 91570438 c.25A>C p.K9Q missense 0.00001649●●●●●●
516. 91641825 c.3401A>G p.Y1134C missense 0.00001649●●●●●●
517. 91651567 c.3853A>G p.T1285A missense 0.00001649●●●●●●
518. 91714891 c.8915C>T p.S2972F missense 0.00001649●●●●●●
519. 91714903 c.8927T>C p.V2976A missense 0.00001649●●●●●●
520. 91724468 c.9710G>A p.R3237Q missense 0.00001649●●●●●●
521. 91726135 c.9862T>G p.L3288V missense 0.00001649●●●●●●
522. 91726295 c.10022C>T p.S3341L missense 0.00001649●●●●●●
523. 91714205 c.8783G>A p.R2928Q missense 0.00001648●●●●●●
524. 91726153 c.9880C>T p.R3294X nonsense 0.00001648●●●●●●
525. 91735020 c.11359C>T p.R3787X nonsense 0.00001648●●●●●●
526. 91652306 c.4131G>C p.E1377D missense 0.00001648●●●●●●
527. 91674440 c.5281A>G p.S1761G missense 0.00001648●●●●●●
528. 91736661 c.11471G>A p.G3824E missense 0.00001648●●●●●●
529. 91715587 c.9070G>A p.G3024S missense 0.00001648●●●●●●
530. 91724456 c.9698G>T p.R3233L missense 0.00001648●●●●●●
531. 91622317 c.524A>T p.N175I missense 0.00001648●●●●●●
532. 91674411 c.5252G>A p.R1751H missense 0.00001648●●●●●●
533. 91674486 c.5327A>C p.E1776A missense 0.00001648●●●●●●
534. 91714184 c.8762T>C p.F2921S missense 0.00001648●●●●●●
535. 91714190 c.8768T>C p.I2923T missense 0.00001648●●●●●●
536. 91715585 c.9068G>A p.R3023Q missense 0.00001648●●●●●●
537. 91724456 c.9698G>A p.R3233H missense 0.00001648●●●●●●
538. 91730174 c.10901C>G p.S3634C missense 0.00001648●●●●●●
539. 91730197 c.10924G>A p.A3642T missense 0.00001648●●●●●●
540. 91735029 c.11368G>A p.G3790S missense 0.00001648●●●●●●
541. 91735045 c.11384A>G p.N3795S missense 0.00001648●●●●●●
542. 91736627 c.11437T>C p.F3813L missense 0.00001648●●●●●●
543. 91736657 c.11467T>C p.Y3823H missense 0.00001648●●●●●●
544. 91736599 c.11417-8T>A splice site 0.00001648●●●●●●
545. 91715605 c.9088C>G p.L3030V missense 0.00001647●●●●●●
546. 91715629 c.9112C>T p.R3038C missense 0.00001647●●●●●●
547. 91715653 c.9136C>T p.R3046W missense 0.00001647●●●●●●
548. 91715666 c.9149C>G p.T3050R missense 0.00001647●●●●●●
549. 91736616 c.11426A>G p.K3809R missense 0.00001647●●●●●●
550. 91706163 c.6613-6T>C splice site 0.00001576●●●●●●
551. 91709449 c.8002G>A p.D2668N missense 0.00001454●●●●●●
552. 91709447 c.8000A>G p.Q2667R missense 0.00001446●●●●●●
553. 91709444 c.7997C>T p.P2666L missense 0.00001378●●●●●●
554. 91739428 c.11687-8T>C splice site 0.00001303●●●●●●
555. 91739429 c.11687-7C>T splice site 0.00001299●●●●●●
556. 91694535 c.5978-10_5978-8delTAA splice site 0.00001286●●●●●●
557. 91625116 c.930+2T>C essential splice site 0.00001276●●●●●●
558. 91739441 c.11692A>G p.T3898A missense 0.00001257●●●●●●
559. 91630372 c.1141A>G p.T381A missense 0.00001256●●●●●●
560. 91709436 c.7989_7991delAAG p.Arg2664del inframe 0.00001245●●●●●●
561. 91625114 c.930G>A p.M310I missense 0.00001234●●●●●●
562. 91709425 c.7978_7982delAAAGA p.Arg2664ProfsTer5 frameshift 0.00001158●●●●●●
563. 91652121 c.3953-7A>G splice site 0.00001156●●●●●●
564. 91709423 c.7976A>G p.E2659G missense 0.00001154●●●●●●
565. 91630376 c.1145A>G p.N382S missense 0.00001151●●●●●●
566. 91694785 c.6210+8T>C splice site 0.00001132●●●●●●
567. 91670208 c.4913C>T p.A1638V missense 0.00001130●●●●●●
568. 91670207 c.4912G>A p.A1638T missense 0.00001126●●●●●●
569. 91652125 c.3953-3T>C splice site 0.00001119●●●●●●
570. 91694542 c.5978-3C>T splice site 0.00001112●●●●●●
571. 91652176 c.4001C>G p.T1334S missense 0.00001111●●●●●●
572. 91708409 c.6962A>G p.N2321S missense 0.00001104●●●●●●
573. 91694543 c.5978-2A>G essential splice site 0.00001089●●●●●●
574. 91645575 c.3745G>A p.V1249I missense 0.00001085●●●●●●
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576. 91645570 c.3740A>G p.Y1247C missense 0.00001067●●●●●●
577. 91709417 c.7970_7973delAGAG p.E2659Kfs*22 frameshift 0.00001059●●●●●●
578. 91670201 c.4906C>A p.Q1636K missense 0.00001059●●●●●●
579. 91709417 c.7970_7971delAG p.Lys2660ArgfsTer10 frameshift 0.00001059●●●●●●
580. 91694777 c.6210T>C p.D2070D splice site 0.00001049●●●●●●
581. 91645566 c.3736A>G p.R1246G missense 0.00001048●●●●●●
582. 91652175 c.4000A>C p.T1334P missense 0.00001039●●●●●●
583. 91694547 c.5980T>G p.L1994V missense 0.00001037●●●●●●
584. 91670198 c.4903A>G p.R1635G missense 0.00001021●●●●●●
585. 91643642 c.3612G>A splice site 0.00001001●●●●●●
586. 91709406 c.7959T>A p.N2653K missense 0.00000989●●●●●●
587. 91706203 c.6647G>A p.R2216K missense 0.00000979●●●●●●
588. 91714998 c.9022G>T p.E3008X nonsense 0.00000968●●●●●●
589. 91652143 c.3968G>A p.S1323N missense 0.00000967●●●●●●
590. 91706206 c.6650A>G p.E2217G missense 0.00000963●●●●●●
591. 91708425 c.6978T>A p.D2326E missense 0.00000947●●●●●●
592. 91706210 c.6654A>C p.E2218D missense 0.00000944●●●●●●
593. 91726669 c.10396G>A p.E3466K missense 0.00000944●●●●●●
594. 91709392 c.7945C>A p.L2649I missense 0.00000942●●●●●●
595. 91670003 c.4708T>C p.S1570P missense 0.00000939●●●●●●
596. 91645522 c.3692G>T p.G1231V missense 0.00000935●●●●●●
597. 91670004 c.4709C>T p.S1570L missense 0.00000932●●●●●●
598. 91694558 c.5991G>T p.E1997D missense 0.00000931●●●●●●
599. 91727521 c.10706G>C p.G3569A missense 0.00000925●●●●●●
600. 91645515 c.3685A>G p.N1229D missense 0.00000921●●●●●●
601. 91630393 c.1162_1165delAGAC p.Arg388SerfsTer6 frameshift 0.00000920●●●●●●
602. 91670184 c.4889_4897delTTAAGAGAC p.Lys1631_Leu1633del inframe 0.00000914●●●●●●
603. 91694755 c.6188A>G p.E2063G missense 0.00000909●●●●●●
604. 91670178 c.4883A>G p.E1628G missense 0.00000908●●●●●●
605. 91630395 c.1164_1165delAC p.Gln389ValfsTer3 frameshift 0.00000908●●●●●●
606. 91645509 c.3679_3680delAA p.Lys1227ArgfsTer5 frameshift 0.00000905●●●●●●
607. 91630395 c.1164A>C p.R388S missense 0.00000901●●●●●●
608. 91645506 c.3676G>A p.D1226N missense 0.00000900●●●●●●
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610. 91630396 c.1165C>T p.Q389X nonsense 0.00000896●●●●●●
611. 91726646 c.10373G>C p.R3458T missense 0.00000896●●●●●●
612. 91708439 c.6992T>C p.I2331T missense 0.00000891●●●●●●
613. 91714980 c.9004C>G p.Q3002E missense 0.00000890●●●●●●
614. 91726636 c.10363G>A p.E3455K missense 0.00000885●●●●●●
615. 91670012 c.4717A>G p.S1573G missense 0.00000883●●●●●●
616. 91714976 c.9000G>T p.K3000N missense 0.00000883●●●●●●
617. 91722638 c.9578+8A>G splice site 0.00000883●●●●●●
618. 91727512 c.10697G>A p.G3566D missense 0.00000881●●●●●●
619. 91706326 c.6765+5_6765+8delTTAG splice site 0.00000881●●●●●●
620. 91694572 c.6005T>C p.M2002T missense 0.00000876●●●●●●
621. 91631365 c.2134T>A p.S712T missense 0.00000875●●●●●●
622. 91631377 c.2146G>C p.E716Q missense 0.00000875●●●●●●
623. 91631396 c.2165A>G p.N722S missense 0.00000874●●●●●●
624. 91727508 c.10693A>C p.T3565P missense 0.00000873●●●●●●
625. 91631347 c.2116C>G p.Q706E missense 0.00000873●●●●●●
626. 91682277 c.5601+5_5601+7delCCT splice site 0.00000873●●●●●●
627. 91707176 c.6932C>A p.T2311K missense 0.00000872●●●●●●
628. 91707175 c.6931A>G p.T2311A missense 0.00000871●●●●●●
629. 91645489 c.3659G>C p.C1220S missense 0.00000871●●●●●●
630. 91645489 c.3659G>A p.C1220Y missense 0.00000871●●●●●●
631. 91631338 c.2107A>G p.K703E missense 0.00000870●●●●●●
632. 91670015 c.4720A>G p.M1574V missense 0.00000870●●●●●●
633. 91631421 c.2190delA p.L731Sfs*25 frameshift 0.00000869●●●●●●
634. 91631333 c.2102A>T p.K701M missense 0.00000868●●●●●●
635. 91625071 c.887T>C p.M296T missense 0.00000867●●●●●●
636. 91670016 c.4721T>C p.M1574T missense 0.00000867●●●●●●
637. 91708451 c.7004T>G p.M2335R missense 0.00000867●●●●●●
638. 91722633 c.9578+3G>C splice site 0.00000866●●●●●●
639. 91722405 c.9359-6G>A splice site 0.00000865●●●●●●
640. 91643575 c.3545A>C p.K1182T missense 0.00000864●●●●●●
641. 91694746 c.6179A>T p.K2060M missense 0.00000864●●●●●●
642. 91625070 c.886A>G p.M296V missense 0.00000863●●●●●●
643. 91726612 c.10339G>C p.E3447Q missense 0.00000863●●●●●●
644. 91727503 c.10688A>T p.K3563I missense 0.00000863●●●●●●
645. 91722629 c.9577A>G p.R3193G missense 0.00000862●●●●●●
646. 91631437 c.2206A>G p.K736E missense 0.00000862●●●●●●
647. 91682049 c.5378A>C p.E1793A missense 0.00000861●●●●●●
648. 91643583 c.3553C>A p.H1185N missense 0.00000859●●●●●●
649. 91709327 c.7880A>C p.E2627A missense 0.00000859●●●●●●
650. 91643602 c.3572T>C p.L1191P missense 0.00000858●●●●●●
651. 91645474 c.3644C>T p.T1215I missense 0.00000858●●●●●●
652. 91708457 c.7010A>G p.D2337G missense 0.00000858●●●●●●
653. 91631263 c.2032A>C p.I678L missense 0.00000857●●●●●●
654. 91630405 c.1174G>C p.E392Q missense 0.00000857●●●●●●
655. 91631265 c.2034A>G p.I678M missense 0.00000857●●●●●●
656. 91691807 c.5977+7A>G splice site 0.00000857●●●●●●
657. 91691808 c.5977+8T>C splice site 0.00000857●●●●●●
658. 91712976 c.8646+7G>T splice site 0.00000857●●●●●●
659. 91643590 c.3560T>A p.L1187H missense 0.00000856●●●●●●
660. 91643596 c.3566G>A p.G1189E missense 0.00000856●●●●●●
661. 91712975 c.8646+6T>C splice site 0.00000856●●●●●●
662. 91645468 c.3638A>G p.Y1213C missense 0.00000855●●●●●●
663. 91631237 c.2006G>A p.G669D missense 0.00000854●●●●●●
664. 91631452 c.2221C>G p.L741V missense 0.00000854●●●●●●
665. 91645461 c.3631G>A p.G1211S missense 0.00000854●●●●●●
666. 91726594 c.10321C>T p.Q3441X nonsense 0.00000854●●●●●●
667. 91714956 c.8980C>G p.L2994V missense 0.00000853●●●●●●
668. 91727491 c.10676T>C p.L3559S missense 0.00000853●●●●●●
669. 91727423 c.10608A>G splice site 0.00000853●●●●●●
670. 91668075 c.4681G>T p.V1561F missense 0.00000852●●●●●●
671. 91625064 c.880T>C p.F294L missense 0.00000852●●●●●●
672. 91706304 c.6748G>A p.E2250K missense 0.00000852●●●●●●
673. 91722626 c.9574T>C p.F3192L missense 0.00000852●●●●●●
674. 91726592 c.10319T>C p.M3440T missense 0.00000852●●●●●●
675. 91668078 c.4684_4687delAGAC p.Arg1562SerfsTer18 frameshift 0.00000852●●●●●●
676. 91726591 c.10318A>G p.M3440V missense 0.00000851●●●●●●
677. 91622191 c.406-8T>G splice site 0.00000850●●●●●●
678. 91670163 c.4868A>G p.Q1623R missense 0.00000850●●●●●●
679. 91708463 c.7016A>G p.E2339G missense 0.00000850●●●●●●
680. 91726586 c.10313G>A p.G3438E missense 0.00000850●●●●●●
681. 91609652 c.351+5G>A splice site 0.00000850●●●●●●
682. 91725996 c.9730-7G>C splice site 0.00000850●●●●●●
683. 91631210 c.1979G>T p.G660V missense 0.00000849●●●●●●
684. 91631210 c.1979G>A p.G660D missense 0.00000849●●●●●●
685. 91706298 c.6742G>C p.E2248Q missense 0.00000849●●●●●●
686. 91722413 c.9361C>T p.L3121F missense 0.00000849●●●●●●
687. 91631470 c.2239G>A p.E747K missense 0.00000848●●●●●●
688. 91631209 c.1978G>A p.G660S missense 0.00000848●●●●●●
689. 91709305 c.7858A>C p.T2620P missense 0.00000848●●●●●●
690. 91726575 c.10302G>C p.Q3434H missense 0.00000848●●●●●●
691. 91623967 c.609A>C p.R203S missense 0.00000847●●●●●●
692. 91668057 c.4663A>G p.K1555E missense 0.00000847●●●●●●
693. 91712892 c.8569C>T p.H2857Y missense 0.00000847●●●●●●
694. 91725998 c.9730-5A>T splice site 0.00000847●●●●●●
695. 91712881 c.8558T>A p.L2853X nonsense 0.00000846●●●●●●
696. 91714949 c.8973C>G p.I2991M missense 0.00000846●●●●●●
697. 91727482 c.10667A>G p.E3556G missense 0.00000846●●●●●●
698. 91668030 c.4636_4639delCTGA p.Thr1547PhefsTer13 frameshift 0.00000846●●●●●●
699. 91668020 c.4626G>C p.K1542N missense 0.00000845●●●●●●
700. 91712865 c.8542T>C p.S2848P missense 0.00000845●●●●●●
701. 91694736 c.6169G>A p.A2057T missense 0.00000845●●●●●●
702. 91712863 c.8540T>C p.I2847T missense 0.00000845●●●●●●
703. 91712904 c.8581G>A p.V2861I missense 0.00000845●●●●●●
704. 91726564 c.10291C>T p.L3431F missense 0.00000845●●●●●●
705. 91726564 c.10291C>G p.L3431V missense 0.00000845●●●●●●
706. 91671358 c.4918-2A>G essential splice site 0.00000845●●●●●●
707. 91603056 c.80C>G p.S27W missense 0.00000844●●●●●●
708. 91668007 c.4613T>C p.I1538T missense 0.00000844●●●●●●
709. 91727481 c.10666G>A p.E3556K missense 0.00000844●●●●●●
710. 91624909 c.733-8_733-7insT splice site 0.00000844●●●●●●
711. 91712921 c.8598G>C p.E2866D missense 0.00000843●●●●●●
712. 91609606 c.310G>A p.E104K missense 0.00000843●●●●●●
713. 91631912 c.2681A>G p.K894R missense 0.00000843●●●●●●
714. 91631917 c.2686C>A p.L896I missense 0.00000843●●●●●●
715. 91631925 c.2694A>C p.E898D missense 0.00000843●●●●●●
716. 91722617 c.9565T>G p.L3189V missense 0.00000843●●●●●●
717. 91631487 c.2256_2257delAG p.Glu753IlefsTer12 frameshift 0.00000843●●●●●●
718. 91691801 c.5977+1_5977+4delGTAA essential splice site 0.00000843●●●●●●
719. 91691799 c.5976A>G splice site 0.00000843●●●●●●
720. 91700211 c.6508-8A>G splice site 0.00000843●●●●●●
721. 91631941 c.2710A>G p.R904G missense 0.00000842●●●●●●
722. 91609614 c.318A>C p.E106D missense 0.00000842●●●●●●
723. 91631869 c.2638G>A p.D880N missense 0.00000842●●●●●●
724. 91631924 c.2693A>C p.E898A missense 0.00000842●●●●●●
725. 91631939 c.2708A>G p.Q903R missense 0.00000842●●●●●●
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970. 91709068 c.7621G>A p.V2541I missense 0.00000829●●●●●●
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976. 91712539 c.8216A>G p.H2739R missense 0.00000829●●●●●●
977. 91712604 c.8281A>T p.S2761C missense 0.00000829●●●●●●
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979. 91714006 c.8699T>C p.I2900T missense 0.00000829●●●●●●
980. 91714007 c.8700A>G p.I2900M missense 0.00000829●●●●●●
981. 91714008 c.8701T>C p.C2901R missense 0.00000829●●●●●●
982. 91726087 c.9814G>A p.E3272K missense 0.00000829●●●●●●
983. 91726407 c.10134G>C p.Q3378H missense 0.00000829●●●●●●
984. 91726408 c.10135C>G p.Q3379E missense 0.00000829●●●●●●
985. 91726411 c.10138A>G p.M3380V missense 0.00000829●●●●●●
986. 91732104 c.11294T>A p.F3765Y missense 0.00000829●●●●●●
987. 91737943 c.11682G>T p.Q3894H missense 0.00000829●●●●●●
988. 91624010 c.652_656delAGAAG p.Arg219LysfsTer3 frameshift 0.00000829●●●●●●
989. 91631701 c.2470_2475delATACTT p.Leu825_Ile826del inframe 0.00000829●●●●●●
990. 91691740 c.5917_5920delAGAG p.Arg1973AsnfsTer10 frameshift 0.00000829●●●●●●
991. 91724361 c.9603_9604insGAA p.Asp3201_Glu3202insGlu inframe 0.00000829●●●●●●
992. 91714016 c.8709T>C splice site 0.00000829●●●●●●
993. 91724492 c.9729+5delT splice site 0.00000829●●●●●●
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996. 91630627 c.1396C>T p.R466W missense 0.00000828●●●●●●
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1001. 91624037 c.679G>T p.E227X nonsense 0.00000828●●●●●●
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1004. 91624055 c.697G>T p.E233X nonsense 0.00000828●●●●●●
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1010. 91652189 c.4014A>C p.E1338D missense 0.00000828●●●●●●
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1012. 91691714 c.5891C>T p.A1964V missense 0.00000828●●●●●●
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1014. 91695747 c.6217G>A p.A2073T missense 0.00000828●●●●●●
1015. 91695825 c.6295C>T p.R2099X nonsense 0.00000828●●●●●●
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1020. 91708586 c.7139A>C p.E2380A missense 0.00000828●●●●●●
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1022. 91709227 c.7780G>T p.E2594X nonsense 0.00000828●●●●●●
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1025. 91711840 c.8024C>T p.T2675I missense 0.00000828●●●●●●
1026. 91712581 c.8258A>T p.E2753V missense 0.00000828●●●●●●
1027. 91712584 c.8261A>G p.D2754G missense 0.00000828●●●●●●
1028. 91712587 c.8264A>G p.E2755G missense 0.00000828●●●●●●
1029. 91712596 c.8273T>C p.V2758A missense 0.00000828●●●●●●
1030. 91712601 c.8278G>A p.E2760K missense 0.00000828●●●●●●
1031. 91722461 c.9409C>G p.Q3137E missense 0.00000828●●●●●●
1032. 91722467 c.9415G>A p.E3139K missense 0.00000828●●●●●●
1033. 91722494 c.9442A>G p.T3148A missense 0.00000828●●●●●●
1034. 91730363 c.11090C>T p.T3697I missense 0.00000828●●●●●●
1035. 91671999 c.5076_5078delAGG p.Gly1693del inframe 0.00000828●●●●●●
1036. 91712578 c.8255_8257delAAG p.Glu2753del inframe 0.00000828●●●●●●
1037. 91708510 c.7063G>A p.V2355M missense 0.00000827●●●●●●
1038. 91622227 c.434A>G p.Y145C missense 0.00000827●●●●●●
1039. 91672007 c.5084T>G p.V1695G missense 0.00000827●●●●●●
1040. 91708531 c.7084G>A p.E2362K missense 0.00000827●●●●●●
1041. 91709161 c.7714C>A p.Q2572K missense 0.00000827●●●●●●
1042. 91711861 c.8045A>G p.N2682S missense 0.00000827●●●●●●
1043. 91632235 c.3004A>T p.N1002Y missense 0.00000827●●●●●●
1044. 91603101 c.125C>A p.T42K missense 0.00000827●●●●●●
1045. 91603275 c.299C>G p.S100C missense 0.00000827●●●●●●
1046. 91632224 c.2993A>G p.E998G missense 0.00000827●●●●●●
1047. 91632229 c.2998A>G p.I1000V missense 0.00000827●●●●●●
1048. 91632328 c.3097G>C p.G1033R missense 0.00000827●●●●●●
1049. 91641756 c.3332T>A p.L1111Q missense 0.00000827●●●●●●
1050. 91651654 c.3940T>G p.L1314V missense 0.00000827●●●●●●
1051. 91652197 c.4022A>G p.Q1341R missense 0.00000827●●●●●●
1052. 91652199 c.4024G>C p.E1342Q missense 0.00000827●●●●●●
1053. 91670091 c.4796A>G p.Q1599R missense 0.00000827●●●●●●
1054. 91671398 c.4956A>T p.R1652S missense 0.00000827●●●●●●
1055. 91672001 c.5078G>T p.G1693V missense 0.00000827●●●●●●
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1057. 91682108 c.5437A>G p.K1813E missense 0.00000827●●●●●●
1058. 91690575 c.5603T>C p.L1868P missense 0.00000827●●●●●●
1059. 91691699 c.5876T>G p.L1959W missense 0.00000827●●●●●●
1060. 91695797 c.6267A>T p.K2089N missense 0.00000827●●●●●●
1061. 91699420 c.6407A>G p.Q2136R missense 0.00000827●●●●●●
1062. 91707118 c.6874G>A p.V2292I missense 0.00000827●●●●●●
1063. 91707125 c.6881T>C p.I2294T missense 0.00000827●●●●●●
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1079. 91727098 c.10597G>A p.A3533T missense 0.00000827●●●●●●
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1081. 91632229 c.2998_3000delATT p.Ile1000del inframe 0.00000827●●●●●●
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1110. 91682127 c.5456C>G p.T1819R missense 0.00000826●●●●●●
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1114. 91690584 c.5612C>T p.A1871V missense 0.00000826●●●●●●
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1116. 91690586 c.5614A>G p.K1872E missense 0.00000826●●●●●●
1117. 91691602 c.5779T>C p.Y1927H missense 0.00000826●●●●●●
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1128. 91714149 c.8727G>C p.W2909C missense 0.00000826●●●●●●
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1130. 91714809 c.8833G>C p.G2945R missense 0.00000826●●●●●●
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1132. 91726118 c.9845T>C p.M3282T missense 0.00000826●●●●●●
1133. 91730350 c.11077T>C p.S3693P missense 0.00000826●●●●●●
1134. 91731921 c.11111A>G p.K3704R missense 0.00000826●●●●●●
1135. 91731923 c.11113T>C p.Y3705H missense 0.00000826●●●●●●
1136. 91732082 c.11272C>T p.R3758C missense 0.00000826●●●●●●
1137. 91737927 c.11666G>A p.R3889Q missense 0.00000826●●●●●●
1138. 91737932 c.11671G>A p.G3891R missense 0.00000826●●●●●●
1139. 91570463 c.48+2T>C essential splice site 0.00000826●●●●●●
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1142. 91691651 c.5828_5829delAT p.Ile1944AsnfsTer5 frameshift 0.00000826●●●●●●
1143. 91699435 c.6422delA p.Arg2142GlyfsTer5 frameshift 0.00000826●●●●●●
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1145. 91621530 c.405+5A>T splice site 0.00000826●●●●●●
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1189. 91672041 c.5118C>G p.D1706E missense 0.00000825●●●●●●
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1192. 91674518 c.5359C>T p.H1787Y missense 0.00000825●●●●●●
1193. 91690607 c.5635A>G p.M1879V missense 0.00000825●●●●●●
1194. 91690628 c.5656A>C p.K1886Q missense 0.00000825●●●●●●
1195. 91690673 c.5701G>A p.E1901K missense 0.00000825●●●●●●
1196. 91691639 c.5816A>G p.Q1939R missense 0.00000825●●●●●●
1197. 91691648 c.5825C>A p.T1942N missense 0.00000825●●●●●●
1198. 91691654 c.5831T>G p.I1944R missense 0.00000825●●●●●●
1199. 91691654 c.5831T>C p.I1944T missense 0.00000825●●●●●●
1200. 91699437 c.6424A>G p.R2142G missense 0.00000825●●●●●●
1201. 91700257 c.6546A>T p.K2182N missense 0.00000825●●●●●●
1202. 91700262 c.6551A>G p.E2184G missense 0.00000825●●●●●●
1203. 91700307 c.6596A>C p.D2199A missense 0.00000825●●●●●●
1204. 91707024 c.6780A>T p.K2260N missense 0.00000825●●●●●●
1205. 91714159 c.8737A>G p.I2913V missense 0.00000825●●●●●●
1206. 91714822 c.8846C>G p.A2949G missense 0.00000825●●●●●●
1207. 91718709 c.9224A>G p.Y3075C missense 0.00000825●●●●●●
1208. 91718721 c.9236T>C p.M3079T missense 0.00000825●●●●●●
1209. 91724395 c.9637G>A p.E3213K missense 0.00000825●●●●●●
1210. 91724468 c.9710G>T p.R3237L missense 0.00000825●●●●●●
1211. 91726121 c.9848T>C p.L3283P missense 0.00000825●●●●●●
1212. 91726931 c.10430C>T p.T3477I missense 0.00000825●●●●●●
1213. 91727051 c.10550A>G p.Q3517R missense 0.00000825●●●●●●
1214. 91727055 c.10554G>T p.K3518N missense 0.00000825●●●●●●
1215. 91727056 c.10555C>T p.L3519F missense 0.00000825●●●●●●
1216. 91727069 c.10568C>T p.A3523V missense 0.00000825●●●●●●
1217. 91732077 c.11267C>T p.T3756I missense 0.00000825●●●●●●
1218. 91736733 c.11543A>G p.N3848S missense 0.00000825●●●●●●
1219. 91736735 c.11545A>G p.R3849G missense 0.00000825●●●●●●
1220. 91660910 c.4330delG p.Val1444Ter frameshift 0.00000825●●●●●●
1221. 91690594 c.5622_5625delACAG p.Thr1876SerfsTer2 frameshift 0.00000825●●●●●●
1222. 91691652 c.5829_5830insA p.Ile1944AsnfsTer6 frameshift 0.00000825●●●●●●
1223. 91726309 c.10036delA p.Glu3347SerfsTer6 frameshift 0.00000825●●●●●●
1224. 91735078 c.11416+1G>A essential splice site 0.00000825●●●●●●
1225. 91715539 c.9025-3T>G splice site 0.00000825●●●●●●
1226. 91737834 c.11573A>G p.N3858S missense 0.00000824●●●●●●
1227. 91726190 c.9917A>G p.K3306R missense 0.00000824●●●●●●
1228. 91714905 c.8929T>G p.S2977A missense 0.00000824●●●●●●
1229. 91730212 c.10939A>G p.I3647V missense 0.00000824●●●●●●
1230. 91622290 c.497G>T p.G166V missense 0.00000824●●●●●●
1231. 91718729 c.9244C>T p.L3082F missense 0.00000824●●●●●●
1232. 91724423 c.9665G>T p.W3222L missense 0.00000824●●●●●●
1233. 91729085 c.10798A>G p.S3600G missense 0.00000824●●●●●●
1234. 91730204 c.10931T>C p.I3644T missense 0.00000824●●●●●●
1235. 91732050 c.11240C>T p.P3747L missense 0.00000824●●●●●●
1236. 91735008 c.11347C>T p.R3783X nonsense 0.00000824●●●●●●
1237. 91729158 c.10871G>A p.R3624Q missense 0.00000824●●●●●●
1238. 91622272 c.479T>C p.M160T missense 0.00000824●●●●●●
1239. 91674402 c.5243C>G p.T1748R missense 0.00000824●●●●●●
1240. 91715651 c.9134T>C p.F3045S missense 0.00000824●●●●●●
1241. 91718730 c.9245T>C p.L3082P missense 0.00000824●●●●●●
1242. 91730171 c.10898C>G p.S3633C missense 0.00000824●●●●●●
1243. 91730293 c.11020T>G p.Y3674D missense 0.00000824●●●●●●
1244. 91659205 c.4149-4T>C splice site 0.00000824●●●●●●
1245. 91603142 c.166A>G p.N56D missense 0.00000824●●●●●●
1246. 91622298 c.505C>T p.H169Y missense 0.00000824●●●●●●
1247. 91622305 c.512T>C p.I171T missense 0.00000824●●●●●●
1248. 91622346 c.553T>G p.Y185D missense 0.00000824●●●●●●
1249. 91641841 c.3417A>T p.K1139N missense 0.00000824●●●●●●
1250. 91641843 c.3419A>G p.D1140G missense 0.00000824●●●●●●
1251. 91641846 c.3422A>G p.K1141R missense 0.00000824●●●●●●
1252. 91641859 c.3435T>A p.S1145R missense 0.00000824●●●●●●
1253. 91651574 c.3860G>A p.G1287D missense 0.00000824●●●●●●
1254. 91651585 c.3871G>C p.E1291Q missense 0.00000824●●●●●●
1255. 91651603 c.3889C>T p.L1297F missense 0.00000824●●●●●●
1256. 91651613 c.3899A>G p.E1300G missense 0.00000824●●●●●●
1257. 91651619 c.3905C>T p.T1302I missense 0.00000824●●●●●●
1258. 91652232 c.4057C>T p.Q1353X nonsense 0.00000824●●●●●●
1259. 91652237 c.4062G>T p.L1354F missense 0.00000824●●●●●●
1260. 91652241 c.4066G>T p.E1356X nonsense 0.00000824●●●●●●
1261. 91652252 c.4077A>C p.Q1359H missense 0.00000824●●●●●●
1262. 91652269 c.4094T>C p.I1365T missense 0.00000824●●●●●●
1263. 91652272 c.4097A>G p.H1366R missense 0.00000824●●●●●●
1264. 91652274 c.4099T>A p.C1367S missense 0.00000824●●●●●●
1265. 91652311 c.4136C>T p.T1379M missense 0.00000824●●●●●●
1266. 91659216 c.4156G>T p.V1386F missense 0.00000824●●●●●●
1267. 91659225 c.4165G>A p.V1389M missense 0.00000824●●●●●●
1268. 91659244 c.4184A>C p.D1395A missense 0.00000824●●●●●●
1269. 91659249 c.4189C>G p.Q1397E missense 0.00000824●●●●●●
1270. 91659254 c.4194A>T p.R1398S missense 0.00000824●●●●●●
1271. 91674366 c.5207T>C p.L1736S missense 0.00000824●●●●●●
1272. 91674386 c.5227G>A p.A1743T missense 0.00000824●●●●●●
1273. 91674395 c.5236G>A p.E1746K missense 0.00000824●●●●●●
1274. 91674402 c.5243C>T p.T1748I missense 0.00000824●●●●●●
1275. 91674435 c.5276G>A p.R1759K missense 0.00000824●●●●●●
1276. 91674474 c.5315G>A p.R1772K missense 0.00000824●●●●●●
1277. 91674485 c.5326G>A p.E1776K missense 0.00000824●●●●●●
1278. 91674489 c.5330C>G p.A1777G missense 0.00000824●●●●●●
1279. 91699489 c.6476C>T p.A2159V missense 0.00000824●●●●●●
1280. 91699494 c.6481C>T p.L2161F missense 0.00000824●●●●●●
1281. 91699515 c.6502C>A p.Q2168K missense 0.00000824●●●●●●
1282. 91700286 c.6575A>G p.Q2192R missense 0.00000824●●●●●●
1283. 91700294 c.6583C>T p.R2195X nonsense 0.00000824●●●●●●
1284. 91707055 c.6811A>G p.M2271V missense 0.00000824●●●●●●
1285. 91714181 c.8759G>A p.G2920E missense 0.00000824●●●●●●
1286. 91714196 c.8774C>T p.S2925L missense 0.00000824●●●●●●
1287. 91714210 c.8788G>A p.E2930K missense 0.00000824●●●●●●
1288. 91714845 c.8869G>T p.V2957L missense 0.00000824●●●●●●
1289. 91714852 c.8876C>T p.S2959F missense 0.00000824●●●●●●
1290. 91714857 c.8881A>G p.T2961A missense 0.00000824●●●●●●
1291. 91714887 c.8911C>T p.H2971Y missense 0.00000824●●●●●●
1292. 91715546 c.9029A>G p.Y3010C missense 0.00000824●●●●●●
1293. 91715554 c.9037T>C p.S3013P missense 0.00000824●●●●●●
1294. 91715564 c.9047A>G p.H3016R missense 0.00000824●●●●●●
1295. 91715566 c.9049G>A p.E3017K missense 0.00000824●●●●●●
1296. 91715610 c.9093A>T p.Q3031H missense 0.00000824●●●●●●
1297. 91715657 c.9140C>T p.T3047M missense 0.00000824●●●●●●
1298. 91715671 c.9154C>G p.L3052V missense 0.00000824●●●●●●
1299. 91715672 c.9155T>C p.L3052P missense 0.00000824●●●●●●
1300. 91715677 c.9160A>G p.T3054A missense 0.00000824●●●●●●
1301. 91715687 c.9170C>A p.A3057E missense 0.00000824●●●●●●
1302. 91715699 c.9182T>C p.L3061P missense 0.00000824●●●●●●
1303. 91718736 c.9251A>T p.K3084I missense 0.00000824●●●●●●
1304. 91718759 c.9274T>A p.S3092T missense 0.00000824●●●●●●
1305. 91718766 c.9281T>C p.I3094T missense 0.00000824●●●●●●
1306. 91718771 c.9286G>A p.A3096T missense 0.00000824●●●●●●
1307. 91724467 c.9709C>T p.R3237W missense 0.00000824●●●●●●
1308. 91726133 c.9860A>G p.Q3287R missense 0.00000824●●●●●●
1309. 91726137 c.9864G>C p.L3288F missense 0.00000824●●●●●●
1310. 91726141 c.9868G>A p.E3290K missense 0.00000824●●●●●●
1311. 91726162 c.9889G>C p.E3297Q missense 0.00000824●●●●●●
1312. 91726171 c.9898G>A p.V3300I missense 0.00000824●●●●●●
1313. 91726195 c.9922C>T p.R3308X nonsense 0.00000824●●●●●●
1314. 91726201 c.9928C>T p.R3310W missense 0.00000824●●●●●●
1315. 91726202 c.9929G>C p.R3310P missense 0.00000824●●●●●●
1316. 91726241 c.9968A>C p.H3323P missense 0.00000824●●●●●●
1317. 91726242 c.9969C>A p.H3323Q missense 0.00000824●●●●●●
1318. 91726274 c.10001A>G p.Q3334R missense 0.00000824●●●●●●
1319. 91726279 c.10006C>T p.R3336W missense 0.00000824●●●●●●
1320. 91726288 c.10015T>G p.L3339V missense 0.00000824●●●●●●
1321. 91726979 c.10478C>T p.S3493L missense 0.00000824●●●●●●
1322. 91726996 c.10495A>G p.I3499V missense 0.00000824●●●●●●
1323. 91727024 c.10523G>A p.C3508Y missense 0.00000824●●●●●●
1324. 91729002 c.10715C>A p.P3572H missense 0.00000824●●●●●●
1325. 91729025 c.10738T>A p.S3580T missense 0.00000824●●●●●●
1326. 91729035 c.10748C>T p.S3583L missense 0.00000824●●●●●●
1327. 91729061 c.10774A>C p.N3592H missense 0.00000824●●●●●●
1328. 91729113 c.10826T>A p.L3609X nonsense 0.00000824●●●●●●
1329. 91729121 c.10834A>G p.M3612V missense 0.00000824●●●●●●
1330. 91729142 c.10855C>G p.Q3619E missense 0.00000824●●●●●●
1331. 91729160 c.10873C>G p.Q3625E missense 0.00000824●●●●●●
1332. 91729161 c.10874A>C p.Q3625P missense 0.00000824●●●●●●
1333. 91730191 c.10918G>A p.G3640S missense 0.00000824●●●●●●
1334. 91730194 c.10921G>A p.G3641S missense 0.00000824●●●●●●
1335. 91730225 c.10952A>C p.E3651A missense 0.00000824●●●●●●
1336. 91730243 c.10970G>C p.R3657T missense 0.00000824●●●●●●
1337. 91730288 c.11015A>C p.E3672A missense 0.00000824●●●●●●
1338. 91730294 c.11021A>G p.Y3674C missense 0.00000824●●●●●●
1339. 91730318 c.11045A>G p.N3682S missense 0.00000824●●●●●●
1340. 91731941 c.11131T>C p.F3711L missense 0.00000824●●●●●●
1341. 91731951 c.11141C>T p.A3714V missense 0.00000824●●●●●●
1342. 91731978 c.11168T>G p.L3723R missense 0.00000824●●●●●●
1343. 91731999 c.11189A>C p.Q3730P missense 0.00000824●●●●●●
1344. 91732011 c.11201A>T p.D3734V missense 0.00000824●●●●●●
1345. 91732012 c.11202T>A p.D3734E missense 0.00000824●●●●●●
1346. 91732022 c.11212G>A p.A3738T missense 0.00000824●●●●●●
1347. 91732040 c.11230G>C p.G3744R missense 0.00000824●●●●●●
1348. 91732040 c.11230G>A p.G3744R missense 0.00000824●●●●●●
1349. 91732041 c.11231G>A p.G3744E missense 0.00000824●●●●●●
1350. 91732044 c.11234G>C p.G3745A missense 0.00000824●●●●●●
1351. 91735014 c.11353T>C p.W3785R missense 0.00000824●●●●●●
1352. 91735059 c.11398G>A p.G3800S missense 0.00000824●●●●●●
1353. 91735065 c.11404G>C p.G3802R missense 0.00000824●●●●●●
1354. 91735074 c.11413C>A p.Q3805K missense 0.00000824●●●●●●
1355. 91736637 c.11447C>G p.S3816C missense 0.00000824●●●●●●
1356. 91736637 c.11447C>A p.S3816Y missense 0.00000824●●●●●●
1357. 91736661 c.11471G>T p.G3824V missense 0.00000824●●●●●●
1358. 91736663 c.11473G>A p.E3825K missense 0.00000824●●●●●●
1359. 91736679 c.11489C>T p.T3830M missense 0.00000824●●●●●●
1360. 91736700 c.11510T>C p.L3837P missense 0.00000824●●●●●●
1361. 91736709 c.11519T>G p.I3840S missense 0.00000824●●●●●●
1362. 91737819 c.11558C>T p.T3853I missense 0.00000824●●●●●●
1363. 91737839 c.11578G>T p.G3860C missense 0.00000824●●●●●●
1364. 91737853 c.11592T>A p.C3864X nonsense 0.00000824●●●●●●
1365. 91737868 c.11607T>A p.N3869K missense 0.00000824●●●●●●
1366. 91737878 c.11617G>A p.D3873N missense 0.00000824●●●●●●
1367. 91737879 c.11618A>G p.D3873G missense 0.00000824●●●●●●
1368. 91737895 c.11634T>G p.D3878E missense 0.00000824●●●●●●
1369. 91715704 c.9187_9190delTGTT p.Cys3063TrpfsTer38 frameshift 0.00000824●●●●●●
1370. 91718744 c.9259_9261delAGA p.Arg3087del inframe 0.00000824●●●●●●
1371. 91726168 c.9895delC p.Gln3299ArgfsTer14 frameshift 0.00000824●●●●●●
1372. 91726959 c.10458_10460delAGA p.Glu3487del inframe 0.00000824●●●●●●
1373. 91736684 c.11494_11495insCACCTTGTATAGAGTAAACCAG p.Arg3832ProfsTer6 frameshift 0.00000824●●●●●●
1374. 91699520 c.6507G>A splice site 0.00000824●●●●●●
1375. 91699523 c.6507+3G>A splice site 0.00000824●●●●●●
1376. 91699526 c.6507+6G>T 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.