OBSCN missense variants in ExAC

OBSCN gene summary
OBSCN variants in

The table below lists the OBSCN 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. 228444565 c.4523T>A p.V1508D missense 1.00000000●●●●●●
2. 228503677 c.13142A>G p.H4381R missense 0.70139015●●●●●●
3. 228504472 c.13348T>C p.C4450R missense 0.69486042●●●●●●
4. 228505668 c.13925C>G p.S4642C missense 0.69402762●●●●●●
5. 228464248 c.6318T>G p.D2106E missense 0.69298515●●●●●●
6. 228509427 c.14885A>G p.D4962G missense 0.68624604●●●●●●
7. 228464276 c.6346T>C p.F2116L missense 0.68432646●●●●●●
8. 228402121 c.1505A>G p.Q502R missense 0.65386413●●●●●●
9. 228528563 c.17671C>G p.Q5891E missense 0.54681826●●●●●●
10. 228504670 c.13546C>T p.R4516W missense 0.42304493●●●●●●
11. 228494790 c.12115G>A p.G4039R missense 0.40908409●●●●●●
12. 228520973 c.15805C>G p.L5269V missense 0.39379347●●●●●●
13. 228412228 c.2722G>A p.A908T missense 0.34707232●●●●●●
14. 228468458 c.8158G>A p.V2720M missense 0.30041062●●●●●●
15. 228451826 c.4595C>T p.A1532V missense 0.29440789●●●●●●
16. 228475848 c.9898G>A p.A3300T missense 0.29234375●●●●●●
17. 228505204 c.13601G>A p.R4534H missense 0.26191414●●●●●●
18. 228504591 c.13467C>A p.H4489Q missense 0.24437234●●●●●●
19. 228505739 c.13996G>A p.G4666S missense 0.18431694●●●●●●
20. 228525008 c.16724G>A p.R5575H missense 0.13349813●●●●●●
21. 228548197 c.19604G>A p.R6535H missense 0.13112623●●●●●●
22. 228467711 c.7586G>A p.R2529Q missense 0.07466675●●●●●●
23. 228476367 c.10117A>T p.S3373C missense 0.05143013●●●●●●
24. 228476366 c.10116G>T p.E3372D missense 0.05138297●●●●●●
25. 228505727 c.13984C>T p.R4662C missense 0.04875381●●●●●●
26. 228469870 c.8434C>T p.R2812W missense 0.04840861●●●●●●
27. 228496066 c.12721G>T p.A4241S missense 0.04025258●●●●●●
28. 228469904 c.8468G>T p.R2823I missense 0.03564751●●●●●●
29. 228432264 c.3473A>T p.H1158L missense 0.03240679●●●●●●
30. 228452032 c.4801G>A p.A1601T missense 0.02620706●●●●●●
31. 228482059 c.11338G>A p.G3780R missense 0.02124930●●●●●●
32. 228464303 c.6373G>T p.A2125S missense 0.02044013●●●●●●
33. 228399671 c.187G>A p.D63N missense 0.01725738●●●●●●
34. 228469801 c.8365G>C p.G2789R missense 0.01507916●●●●●●
35. 228452016 c.4785G>C p.E1595D missense 0.01367652●●●●●●
36. 228468069 c.7853G>A p.S2618N missense 0.01319654●●●●●●
37. 228462332 c.5743G>A p.E1915K missense 0.01318385●●●●●●
38. 228464316 c.6386C>G p.P2129R missense 0.01290535●●●●●●
39. 228481897 c.11176A>C p.T3726P missense 0.01281733●●●●●●
40. 228404305 c.2279G>A p.R760Q missense 0.01216921●●●●●●
41. 228503566 c.13031G>A p.R4344Q missense 0.01164866●●●●●●
42. 228548116 c.19523C>A p.T6508K missense 0.01091899●●●●●●
43. 228547827 c.19234G>C p.A6412P missense 0.01063683●●●●●●
44. 228431034 c.3080A>G p.K1027R missense 0.00987154●●●●●●
45. 228509589 c.15047G>A p.R5016Q missense 0.00981783●●●●●●
46. 228461615 c.5282G>A p.R1761H missense 0.00975438●●●●●●
47. 228506912 c.14459T>C p.L4820P missense 0.00917219●●●●●●
48. 228475954 c.10004C>T p.A3335V missense 0.00899937●●●●●●
49. 228526578 c.17109T>A p.S5703R missense 0.00845450●●●●●●
50. 228504586 c.13462C>G p.H4488D missense 0.00815087●●●●●●
51. 228520995 c.15827G>A p.R5276H missense 0.00766017●●●●●●
52. 228504650 c.13526G>A p.R4509H missense 0.00722439●●●●●●
53. 228464255 c.6325T>C p.W2109R missense 0.00709202●●●●●●
54. 228464633 c.6490C>G p.L2164V missense 0.00561951●●●●●●
55. 228470764 c.8516C>T p.A2839V missense 0.00543117●●●●●●
56. 228444385 c.4343T>C p.V1448A missense 0.00528872●●●●●●
57. 228467095 c.7346T>C p.V2449A missense 0.00518855●●●●●●
58. 228399519 c.35T>A p.F12Y missense 0.00492109●●●●●●
59. 228506756 c.14303C>T p.S4768L missense 0.00475165●●●●●●
60. 228481067 c.10881G>C p.K3627N missense 0.00472266●●●●●●
61. 228479808 c.10549G>A p.E3517K missense 0.00467800●●●●●●
62. 228528298 c.17507T>C p.V5836A missense 0.00425318●●●●●●
63. 228548290 c.19697C>T p.P6566L missense 0.00388083●●●●●●
64. 228465000 c.6740C>T p.S2247F missense 0.00369653●●●●●●
65. 228432047 c.3256G>T p.A1086S missense 0.00364976●●●●●●
66. 228404368 c.2342G>A p.R781H missense 0.00345605●●●●●●
67. 228505275 c.13672C>T p.R4558C missense 0.00327190●●●●●●
68. 228527749 c.17362C>T p.R5788C missense 0.00305112●●●●●●
69. 228473959 c.9185T>G p.V3062G missense 0.00273172●●●●●●
70. 228504574 c.13450G>A p.A4484T missense 0.00263691●●●●●●
71. 228538568 c.18343C>G p.R6115G missense 0.00249427●●●●●●
72. 228548112 c.19519C>T p.P6507S missense 0.00242877●●●●●●
73. 228476484 c.10234G>A p.G3412R missense 0.00239345●●●●●●
74. 228480317 c.10697C>T p.P3566L missense 0.00231018●●●●●●
75. 228404864 c.2528G>A p.R843H missense 0.00228972●●●●●●
76. 228412195 c.2689C>T p.R897C missense 0.00213938●●●●●●
77. 228503679 c.13144A>G p.T4382A missense 0.00213348●●●●●●
78. 228524756 c.16589T>C p.V5530A missense 0.00205726●●●●●●
79. 228509733 c.15191C>T p.A5064V missense 0.00198707●●●●●●
80. 228509610 c.15068C>T p.P5023L missense 0.00189181●●●●●●
81. 228399871 c.387C>A p.F129L missense 0.00189107●●●●●●
82. 228399870 c.386T>A p.F129Y missense 0.00188929●●●●●●
83. 228523957 c.16523G>T p.G5508V missense 0.00186474●●●●●●
84. 228504614 c.13490A>T p.Q4497L missense 0.00181294●●●●●●
85. 228456382 c.5013A>C p.K1671N missense 0.00178209●●●●●●
86. 228522990 c.16396G>A p.V5466I missense 0.00174277●●●●●●
87. 228433376 c.3744A>C p.Q1248H missense 0.00166068●●●●●●
88. 228403360 c.1925G>T p.G642V missense 0.00160160●●●●●●
89. 228506761 c.14308C>T p.R4770C missense 0.00159416●●●●●●
90. 228464267 c.6337G>T p.G2113C missense 0.00157471●●●●●●
91. 228480319 c.10699G>C p.V3567L missense 0.00156496●●●●●●
92. 228470803 c.8555G>A p.R2852Q missense 0.00152049●●●●●●
93. 228494216 c.11803C>T p.R3935W missense 0.00151063●●●●●●
94. 228401183 c.1030G>C p.V344L missense 0.00150845●●●●●●
95. 228461611 c.5278C>T p.R1760C missense 0.00147981●●●●●●
96. 228461999 c.5537C>T p.T1846M missense 0.00144344●●●●●●
97. 228495983 c.12638G>A p.R4213H missense 0.00134602●●●●●●
98. 228469861 c.8425T>G p.F2809V missense 0.00130488●●●●●●
99. 228437749 c.4117G>A p.E1373K missense 0.00124461●●●●●●
100. 228404818 c.2482G>T p.V828L missense 0.00120781●●●●●●
101. 228528549 c.17657A>G p.Y5886C missense 0.00118275●●●●●●
102. 228509109 c.14567G>A p.R4856H missense 0.00113043●●●●●●
103. 228522798 c.16204G>A p.V5402M missense 0.00112676●●●●●●
104. 228505725 c.13982A>C p.E4661A missense 0.00111827●●●●●●
105. 228462377 c.5788G>A p.V1930M missense 0.00107790●●●●●●
106. 228496905 c.12845G>A p.R4282H missense 0.00105768●●●●●●
107. 228400211 c.727G>C p.G243R missense 0.00105639●●●●●●
108. 228474614 c.9418C>T p.R3140W missense 0.00103137●●●●●●
109. 228465516 c.6816T>G p.F2272L missense 0.00101859●●●●●●
110. 228404169 c.2143G>A p.E715K missense 0.00100698●●●●●●
111. 228468437 c.8137G>A p.A2713T missense 0.00100537●●●●●●
112. 228522931 c.16337C>T p.T5446I missense 0.00099628●●●●●●
113. 228467079 c.7330A>T p.T2444S missense 0.00099521●●●●●●
114. 228482068 c.11347T>C p.S3783P missense 0.00099333●●●●●●
115. 228506687 c.14234G>A p.R4745Q missense 0.00097739●●●●●●
116. 228526653 c.17184C>A p.H5728Q missense 0.00094298●●●●●●
117. 228461504 c.5171G>A p.R1724H missense 0.00093382●●●●●●
118. 228494607 c.11932C>A p.P3978T missense 0.00088940●●●●●●
119. 228521394 c.15967G>A p.V5323I missense 0.00088678●●●●●●
120. 228462510 c.5921G>A p.G1974D missense 0.00085476●●●●●●
121. 228401940 c.1324G>C p.V442L missense 0.00085127●●●●●●
122. 228437846 c.4214G>A p.R1405Q missense 0.00084539●●●●●●
123. 228467969 c.7753G>C p.D2585H missense 0.00082799●●●●●●
124. 228504655 c.13531G>A p.A4511T missense 0.00081481●●●●●●
125. 228433171 c.3539C>T p.A1180V missense 0.00081170●●●●●●
126. 228509430 c.14888G>A p.R4963H missense 0.00079904●●●●●●
127. 228471294 c.8828C>T p.A2943V missense 0.00078442●●●●●●
128. 228467130 c.7381C>T p.R2461C missense 0.00077998●●●●●●
129. 228469826 c.8390G>A p.R2797Q missense 0.00073177●●●●●●
130. 228548255 c.19662G>C p.L6554F missense 0.00072709●●●●●●
131. 228509681 c.15139G>T p.D5047Y missense 0.00070870●●●●●●
132. 228526619 c.17150G>A p.S5717N missense 0.00069720●●●●●●
133. 228547494 c.18901C>G p.P6301A missense 0.00068875●●●●●●
134. 228538635 c.18410C>T p.P6137L missense 0.00068050●●●●●●
135. 228463548 c.6041C>A p.P2014Q missense 0.00067244●●●●●●
136. 228505257 c.13654G>A p.G4552S missense 0.00066476●●●●●●
137. 228399851 c.367G>A p.E123K missense 0.00065641●●●●●●
138. 228509279 c.14737G>T p.D4913Y missense 0.00065457●●●●●●
139. 228404335 c.2309G>A p.R770Q missense 0.00064661●●●●●●
140. 228495112 c.12346G>A p.E4116K missense 0.00062555●●●●●●
141. 228463680 c.6173G>T p.G2058V missense 0.00061046●●●●●●
142. 228496013 c.12668C>T p.T4223M missense 0.00056414●●●●●●
143. 228526655 c.17186T>A p.V5729E missense 0.00055748●●●●●●
144. 228461605 c.5272G>C p.E1758Q missense 0.00054994●●●●●●
145. 228461900 c.5438G>A p.R1813Q missense 0.00054413●●●●●●
146. 228509555 c.15013G>A p.D5005N missense 0.00054233●●●●●●
147. 228495226 c.12460G>T p.V4154F missense 0.00053574●●●●●●
148. 228465523 c.6823G>A p.E2275K missense 0.00053480●●●●●●
149. 228494097 c.11684C>T p.P3895L missense 0.00053350●●●●●●
150. 228504592 c.13468G>A p.A4490T missense 0.00052831●●●●●●
151. 228520929 c.15761C>T p.T5254I missense 0.00051785●●●●●●
152. 228526067 c.17078G>T p.R5693M missense 0.00051017●●●●●●
153. 228437851 c.4219C>G p.L1407V missense 0.00050557●●●●●●
154. 228434381 c.3910G>A p.V1304M missense 0.00050512●●●●●●
155. 228473782 c.9008G>A p.R3003Q missense 0.00049072●●●●●●
156. 228475770 c.9820G>A p.A3274T missense 0.00049050●●●●●●
157. 228505739 c.13996G>T p.G4666C missense 0.00048890●●●●●●
158. 228470926 c.8678C>T p.A2893V missense 0.00047150●●●●●●
159. 228525823 c.16979C>T p.A5660V missense 0.00047072●●●●●●
160. 228494144 c.11731T>G p.C3911G missense 0.00045890●●●●●●
161. 228479802 c.10543G>A p.A3515T missense 0.00044710●●●●●●
162. 228463578 c.6071C>T p.A2024V missense 0.00044684●●●●●●
163. 228527758 c.17371G>C p.A5791P missense 0.00044378●●●●●●
164. 228434277 c.3806G>A p.R1269Q missense 0.00042237●●●●●●
165. 228468144 c.7928G>A p.R2643Q missense 0.00042178●●●●●●
166. 228402745 c.1774C>T p.L592F missense 0.00041687●●●●●●
167. 228528530 c.17638G>A p.V5880M missense 0.00041618●●●●●●
168. 228539044 c.18442C>G p.L6148V missense 0.00040384●●●●●●
169. 228469873 c.8437G>C p.G2813R missense 0.00040192●●●●●●
170. 228496021 c.12676G>T p.D4226Y missense 0.00040039●●●●●●
171. 228468104 c.7888T>G p.S2630A missense 0.00040019●●●●●●
172. 228464889 c.6629C>T p.T2210M missense 0.00038420●●●●●●
173. 228470725 c.8477C>T p.P2826L missense 0.00038300●●●●●●
174. 228474542 c.9346G>A p.V3116M missense 0.00038289●●●●●●
175. 228509321 c.14779G>A p.V4927M missense 0.00037864●●●●●●
176. 228503592 c.13057G>A p.E4353K missense 0.00037482●●●●●●
177. 228430962 c.3008G>C p.S1003T missense 0.00037403●●●●●●
178. 228476025 c.10075C>A p.P3359T missense 0.00037402●●●●●●
179. 228462007 c.5545C>T p.R1849W missense 0.00036899●●●●●●
180. 228469825 c.8389C>T p.R2797W missense 0.00036599●●●●●●
181. 228474494 c.9298C>T p.R3100W missense 0.00036596●●●●●●
182. 228467994 c.7778A>G p.N2593S missense 0.00036576●●●●●●
183. 228437717 c.4085C>T p.A1362V missense 0.00036541●●●●●●
184. 228520597 c.15689C>T p.T5230M missense 0.00035141●●●●●●
185. 228494163 c.11750C>T p.T3917I missense 0.00035054●●●●●●
186. 228503802 c.13267G>A p.A4423T missense 0.00034504●●●●●●
187. 228528214 c.17423C>T p.A5808V missense 0.00034420●●●●●●
188. 228481084 c.10898G>A p.R3633K missense 0.00034110●●●●●●
189. 228548256 c.19663C>T p.R6555W missense 0.00033665●●●●●●
190. 228471293 c.8827G>A p.A2943T missense 0.00033372●●●●●●
191. 228523528 c.16442C>T p.A5481V missense 0.00033143●●●●●●
192. 228403485 c.2050T>C p.F684L missense 0.00033130●●●●●●
193. 228473946 c.9172G>A p.G3058R missense 0.00032685●●●●●●
194. 228526039 c.17050G>A p.A5684T missense 0.00032407●●●●●●
195. 228475506 c.9656A>G p.Y3219C missense 0.00032351●●●●●●
196. 228495821 c.12476T>G p.V4159G missense 0.00032322●●●●●●
197. 228522537 c.16109C>T p.P5370L missense 0.00031478●●●●●●
198. 228494243 c.11830G>A p.A3944T missense 0.00030771●●●●●●
199. 228461936 c.5474C>T p.T1825M missense 0.00030463●●●●●●
200. 228404367 c.2341C>T p.R781C missense 0.00030255●●●●●●
201. 228509588 c.15046C>T p.R5016W missense 0.00029928●●●●●●
202. 228412339 c.2833C>T p.R945C missense 0.00029871●●●●●●
203. 228399551 c.67G>A p.V23M missense 0.00029544●●●●●●
204. 228461579 c.5246C>T p.T1749M missense 0.00029210●●●●●●
205. 228412415 c.2909C>T p.S970F missense 0.00029175●●●●●●
206. 228476439 c.10189C>T p.R3397C missense 0.00028984●●●●●●
207. 228504628 c.13504G>A p.G4502R missense 0.00028726●●●●●●
208. 228526715 c.17246G>T p.R5749L missense 0.00028498●●●●●●
209. 228509475 c.14933G>A p.G4978D missense 0.00028421●●●●●●
210. 228494830 c.12155C>T p.T4052M missense 0.00028220●●●●●●
211. 228481314 c.11128A>G p.R3710G missense 0.00028096●●●●●●
212. 228547588 c.18995T>C p.I6332T missense 0.00027860●●●●●●
213. 228461986 c.5524C>T p.R1842C missense 0.00027754●●●●●●
214. 228399619 c.135G>C p.K45N missense 0.00027750●●●●●●
215. 228506881 c.14428C>T p.R4810W missense 0.00027430●●●●●●
216. 228464412 c.6482T>A p.V2161D missense 0.00027429●●●●●●
217. 228481236 c.11050C>T p.R3684C missense 0.00027331●●●●●●
218. 228479805 c.10546G>A p.G3516R missense 0.00027322●●●●●●
219. 228522856 c.16262C>T p.P5421L missense 0.00026859●●●●●●
220. 228526589 c.17120C>A p.A5707D missense 0.00026764●●●●●●
221. 228467702 c.7577G>C p.R2526P missense 0.00026457●●●●●●
222. 228505276 c.13673G>A p.R4558H missense 0.00026207●●●●●●
223. 228468483 c.8183G>A p.R2728Q missense 0.00026175●●●●●●
224. 228404307 c.2281C>T p.R761W missense 0.00026123●●●●●●
225. 228504530 c.13406A>G p.N4469S missense 0.00025920●●●●●●
226. 228524774 c.16607T>C p.L5536P missense 0.00025893●●●●●●
227. 228504577 c.13453G>A p.D4485N missense 0.00025868●●●●●●
228. 228404401 c.2375A>G p.Q792R missense 0.00024973●●●●●●
229. 228412370 c.2864C>T p.A955V missense 0.00024947●●●●●●
230. 228506768 c.14315C>T p.P4772L missense 0.00024668●●●●●●
231. 228503565 c.13030C>T p.R4344W missense 0.00024578●●●●●●
232. 228430956 c.3002C>T p.T1001M missense 0.00024351●●●●●●
233. 228473950 c.9176G>C p.G3059A missense 0.00024319●●●●●●
234. 228468440 c.8140G>C p.G2714R missense 0.00024270●●●●●●
235. 228495913 c.12568G>A p.V4190M missense 0.00024231●●●●●●
236. 228495156 c.12390A>T p.Q4130H missense 0.00023667●●●●●●
237. 228401328 c.1175G>A p.R392H missense 0.00023603●●●●●●
238. 228404780 c.2444C>T p.A815V missense 0.00023489●●●●●●
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283. 228511034 c.15379G>T p.V5127L missense 0.00018070●●●●●●
284. 228470802 c.8554C>T p.R2852W missense 0.00017794●●●●●●
285. 228521005 c.15837G>C p.K5279N missense 0.00017691●●●●●●
286. 228547549 c.18956C>T p.S6319L missense 0.00017474●●●●●●
287. 228481257 c.11071G>A p.A3691T missense 0.00017400●●●●●●
288. 228479848 c.10589C>T p.T3530M missense 0.00017386●●●●●●
289. 228464651 c.6508C>T p.R2170C missense 0.00017360●●●●●●
290. 228526724 c.17255G>T p.S5752I missense 0.00017355●●●●●●
291. 228528213 c.17422G>A p.A5808T missense 0.00017354●●●●●●
292. 228464715 c.6572G>A p.R2191H missense 0.00017237●●●●●●
293. 228467106 c.7357G>A p.V2453I missense 0.00017110●●●●●●
294. 228509288 c.14746C>G p.R4916G missense 0.00017023●●●●●●
295. 228509861 c.15319C>T p.P5107S missense 0.00016998●●●●●●
296. 228434477 c.4006C>T p.R1336W missense 0.00016741●●●●●●
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298. 228444600 c.4558C>T p.R1520W missense 0.00016645●●●●●●
299. 228504535 c.13411G>A p.A4471T missense 0.00016607●●●●●●
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301. 228404271 c.2245G>T p.G749C missense 0.00016474●●●●●●
302. 228461741 c.5408A>C p.Q1803P missense 0.00016433●●●●●●
303. 228503587 c.13052C>T p.A4351V missense 0.00016390●●●●●●
304. 228496075 c.12730A>C p.T4244P missense 0.00016344●●●●●●
305. 228404291 c.2265G>C p.Q755H missense 0.00016292●●●●●●
306. 228548266 c.19673C>T p.P6558L missense 0.00016132●●●●●●
307. 228505368 c.13765G>A p.G4589R missense 0.00016044●●●●●●
308. 228547680 c.19087G>A p.G6363S missense 0.00015936●●●●●●
309. 228509748 c.15206G>C p.R5069P missense 0.00015921●●●●●●
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311. 228434397 c.3926C>T p.A1309V missense 0.00015759●●●●●●
312. 228526693 c.17224C>T p.R5742C missense 0.00015601●●●●●●
313. 228548106 c.19513G>A p.G6505R missense 0.00015436●●●●●●
314. 228525074 c.16790C>G p.A5597G missense 0.00015365●●●●●●
315. 228495173 c.12407C>T p.T4136M missense 0.00015129●●●●●●
316. 228471213 c.8747A>G p.N2916S missense 0.00015038●●●●●●
317. 228528434 c.17542C>T p.R5848C missense 0.00015029●●●●●●
318. 228528575 c.17683G>A p.E5895K missense 0.00015004●●●●●●
319. 228473779 c.9005G>A p.G3002D missense 0.00014997●●●●●●
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321. 228474013 c.9239C>T p.A3080V missense 0.00014957●●●●●●
322. 228437675 c.4043C>T p.A1348V missense 0.00014945●●●●●●
323. 228527671 c.17284G>A p.D5762N missense 0.00014940●●●●●●
324. 228475945 c.9995G>A p.R3332H missense 0.00014922●●●●●●
325. 228476440 c.10190G>A p.R3397H missense 0.00014906●●●●●●
326. 228432113 c.3322T>A p.Y1108N missense 0.00014904●●●●●●
327. 228496078 c.12733G>A p.V4245I missense 0.00014822●●●●●●
328. 228506695 c.14242C>T p.R4748C missense 0.00014713●●●●●●
329. 228496018 c.12673G>A p.E4225K missense 0.00014634●●●●●●
330. 228528447 c.17555G>A p.R5852Q missense 0.00014554●●●●●●
331. 228494163 c.11750C>A p.T3917N missense 0.00014381●●●●●●
332. 228464171 c.6241C>T p.R2081W missense 0.00014327●●●●●●
333. 228469742 c.8306T>C p.M2769T missense 0.00014234●●●●●●
334. 228401265 c.1112G>T p.R371L missense 0.00014204●●●●●●
335. 228465491 c.6791C>T p.A2264V missense 0.00014194●●●●●●
336. 228444519 c.4477G>T p.V1493L missense 0.00014092●●●●●●
337. 228434276 c.3805C>T p.R1269W missense 0.00014079●●●●●●
338. 228430967 c.3013G>A p.E1005K missense 0.00014050●●●●●●
339. 228506635 c.14182C>T p.P4728S missense 0.00014023●●●●●●
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341. 228505423 c.13820C>T p.P4607L missense 0.00013698●●●●●●
342. 228461737 c.5404G>T p.V1802L missense 0.00013663●●●●●●
343. 228505276 c.13673G>T p.R4558L missense 0.00013526●●●●●●
344. 228547770 c.19177G>A p.G6393S missense 0.00013524●●●●●●
345. 228462109 c.5647C>T p.R1883C missense 0.00013512●●●●●●
346. 228471458 c.8992C>A p.L2998I missense 0.00013483●●●●●●
347. 228468390 c.8090C>T p.T2697M missense 0.00013455●●●●●●
348. 228437876 c.4244C>T p.A1415V missense 0.00013263●●●●●●
349. 228473854 c.9080G>A p.R3027Q missense 0.00013225●●●●●●
350. 228547689 c.19096C>A p.P6366T missense 0.00013223●●●●●●
351. 228537627 c.18185T>A p.L6062H missense 0.00013215●●●●●●
352. 228404178 c.2152G>A p.A718T missense 0.00013172●●●●●●
353. 228504643 c.13519G>A p.A4507T missense 0.00013125●●●●●●
354. 228503605 c.13070C>T p.A4357V missense 0.00013105●●●●●●
355. 228467119 c.7370G>A p.R2457H missense 0.00013075●●●●●●
356. 228473919 c.9145G>A p.E3049K missense 0.00013022●●●●●●
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358. 228404292 c.2266G>A p.A756T missense 0.00012993●●●●●●
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361. 228401967 c.1351G>A p.V451I missense 0.00012779●●●●●●
362. 228402740 c.1769C>T p.S590F missense 0.00012765●●●●●●
363. 228547680 c.19087G>C p.G6363R missense 0.00012749●●●●●●
364. 228525714 c.16870C>T p.R5624W missense 0.00012735●●●●●●
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366. 228505854 c.14111C>T p.P4704L missense 0.00012705●●●●●●
367. 228430986 c.3032C>T p.T1011M missense 0.00012684●●●●●●
368. 228547912 c.19319C>T p.T6440M missense 0.00012565●●●●●●
369. 228474563 c.9367G>A p.D3123N missense 0.00012554●●●●●●
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372. 228444570 c.4528G>A p.G1510R missense 0.00012458●●●●●●
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374. 228462483 c.5894C>T p.A1965V missense 0.00012436●●●●●●
375. 228470748 c.8500G>C p.E2834Q missense 0.00012435●●●●●●
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377. 228412262 c.2756C>T p.T919M missense 0.00012430●●●●●●
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379. 228481196 c.11010C>A p.H3670Q missense 0.00012423●●●●●●
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382. 228467602 c.7477C>T p.R2493W missense 0.00012119●●●●●●
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385. 228522880 c.16286C>A p.A5429E missense 0.00011959●●●●●●
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388. 228462076 c.5614G>A p.A1872T missense 0.00011751●●●●●●
389. 228503748 c.13213C>T p.R4405W missense 0.00011750●●●●●●
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391. 228466492 c.6962G>A p.R2321Q missense 0.00011674●●●●●●
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393. 228444495 c.4453A>G p.S1485G missense 0.00011602●●●●●●
394. 228433336 c.3704A>C p.E1235A missense 0.00011601●●●●●●
395. 228476389 c.10139C>T p.T3380M missense 0.00011594●●●●●●
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401. 228504580 c.13456G>A p.G4486S missense 0.00011065●●●●●●
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405. 228509331 c.14789G>A p.R4930H missense 0.00010899●●●●●●
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411. 228474686 c.9490C>T p.R3164C missense 0.00010751●●●●●●
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472. 228466473 c.6943C>T p.R2315W missense 0.00009173●●●●●●
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1027. 228494839 c.12164C>T p.T4055M missense 0.00003320●●●●●●
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1430. 228464295 c.6365G>T p.C2122F missense 0.00001880●●●●●●
1431. 228506834 c.14381G>T p.R4794L missense 0.00001871●●●●●●
1432. 228474630 c.9434A>T p.H3145L missense 0.00001868●●●●●●
1433. 228464292 c.6362C>T p.T2121M missense 0.00001866●●●●●●
1434. 228474734 c.9538G>T p.V3180L missense 0.00001866●●●●●●
1435. 228496009 c.12664G>A p.V4222M missense 0.00001863●●●●●●
1436. 228504463 c.13339G>A p.A4447T missense 0.00001860●●●●●●
1437. 228461707 c.5374C>T p.R1792C missense 0.00001854●●●●●●
1438. 228525688 c.16844G>C p.G5615A missense 0.00001853●●●●●●
1439. 228548314 c.19721G>A p.R6574H missense 0.00001850●●●●●●
1440. 228525690 c.16846G>T p.A5616S missense 0.00001849●●●●●●
1441. 228548320 c.19727G>A p.R6576Q missense 0.00001849●●●●●●
1442. 228509138 c.14596G>C p.D4866H missense 0.00001848●●●●●●
1443. 228461708 c.5375G>A p.R1792H missense 0.00001848●●●●●●
1444. 228509117 c.14575C>A p.L4859M missense 0.00001847●●●●●●
1445. 228548302 c.19709C>T p.S6570F missense 0.00001842●●●●●●
1446. 228509193 c.14651A>C p.K4884T missense 0.00001840●●●●●●
1447. 228525694 c.16850A>T p.E5617V missense 0.00001838●●●●●●
1448. 228525844 c.17000A>G p.K5667R missense 0.00001837●●●●●●
1449. 228511247 c.15592C>A p.R5198S missense 0.00001835●●●●●●
1450. 228464961 c.6701T>C p.V2234A missense 0.00001829●●●●●●
1451. 228525703 c.16859C>A p.A5620D missense 0.00001827●●●●●●
1452. 228468467 c.8167G>A p.E2723K missense 0.00001825●●●●●●
1453. 228511269 c.15614T>C p.M5205T missense 0.00001825●●●●●●
1454. 228547864 c.19271T>G p.M6424R missense 0.00001825●●●●●●
1455. 228464281 c.6351G>T p.Q2117H missense 0.00001820●●●●●●
1456. 228547450 c.18857A>G p.Q6286R missense 0.00001820●●●●●●
1457. 228495169 c.12403G>A p.D4135N missense 0.00001817●●●●●●
1458. 228474731 c.9535A>G p.R3179G missense 0.00001813●●●●●●
1459. 228525720 c.16876G>T p.G5626C missense 0.00001811●●●●●●
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1461. 228548150 c.19557T>A p.H6519Q missense 0.00001807●●●●●●
1462. 228464159 c.6229G>C p.V2077L missense 0.00001803●●●●●●
1463. 228529849 c.18064G>A p.D6022N missense 0.00001800●●●●●●
1464. 228520925 c.15757A>G p.T5253A missense 0.00001795●●●●●●
1465. 228511029 c.15374C>T p.A5125V missense 0.00001793●●●●●●
1466. 228467707 c.7582C>T p.L2528F missense 0.00001780●●●●●●
1467. 228404716 c.2380C>T p.L794F missense 0.00001777●●●●●●
1468. 228464153 c.6223C>T p.R2075C missense 0.00001774●●●●●●
1469. 228503709 c.13174G>A p.E4392K missense 0.00001774●●●●●●
1470. 228548137 c.19544T>C p.L6515P missense 0.00001769●●●●●●
1471. 228494181 c.11768G>C p.S3923T missense 0.00001768●●●●●●
1472. 228467542 c.7417C>G p.R2473G missense 0.00001765●●●●●●
1473. 228529154 c.17873T>C p.L5958P missense 0.00001765●●●●●●
1474. 228529315 c.18034C>T p.R6012W missense 0.00001763●●●●●●
1475. 228494301 c.11888G>A p.C3963Y missense 0.00001761●●●●●●
1476. 228505873 c.14130G>C p.Q4710H missense 0.00001758●●●●●●
1477. 228529157 c.17876A>T p.N5959I missense 0.00001757●●●●●●
1478. 228468054 c.7838C>T p.T2613M missense 0.00001754●●●●●●
1479. 228494198 c.11785C>A p.L3929M missense 0.00001750●●●●●●
1480. 228462139 c.5677G>A p.V1893I missense 0.00001746●●●●●●
1481. 228494743 c.12068A>T p.K4023M missense 0.00001746●●●●●●
1482. 228400400 c.916C>T p.R306C missense 0.00001745●●●●●●
1483. 228404983 c.2647G>A p.V883I missense 0.00001745●●●●●●
1484. 228430927 c.2973G>T p.E991D missense 0.00001745●●●●●●
1485. 228467537 c.7412T>G p.L2471R missense 0.00001745●●●●●●
1486. 228431145 c.3191G>T p.R1064L missense 0.00001739●●●●●●
1487. 228401880 c.1264C>T p.L422F missense 0.00001729●●●●●●
1488. 228401880 c.1264C>G p.L422V missense 0.00001729●●●●●●
1489. 228529172 c.17891G>A p.G5964E missense 0.00001729●●●●●●
1490. 228402556 c.1585G>A p.V529M missense 0.00001728●●●●●●
1491. 228464273 c.6343C>T p.R2115W missense 0.00001727●●●●●●
1492. 228404974 c.2638C>T p.R880W missense 0.00001726●●●●●●
1493. 228461495 c.5162G>C p.R1721T missense 0.00001724●●●●●●
1494. 228509840 c.15298A>T p.M5100L missense 0.00001723●●●●●●
1495. 228464235 c.6305A>C p.H2102P missense 0.00001720●●●●●●
1496. 228527773 c.17386G>A p.V5796I missense 0.00001720●●●●●●
1497. 228528567 c.17675C>T p.A5892V missense 0.00001720●●●●●●
1498. 228548107 c.19514G>A p.G6505E missense 0.00001719●●●●●●
1499. 228528868 c.17770C>T p.L5924F missense 0.00001717●●●●●●
1500. 228400331 c.847C>A p.R283S missense 0.00001716●●●●●●
1501. 228400344 c.860A>G p.Y287C missense 0.00001714●●●●●●
1502. 228402593 c.1622G>A p.R541H missense 0.00001711●●●●●●
1503. 228494965 c.12199A>G p.R4067G missense 0.00001711●●●●●●
1504. 228529189 c.17908G>A p.E5970K missense 0.00001711●●●●●●
1505. 228469871 c.8435G>A p.R2812Q missense 0.00001710●●●●●●
1506. 228468426 c.8126G>A p.S2709N missense 0.00001708●●●●●●
1507. 228494983 c.12217C>T p.R4073W missense 0.00001706●●●●●●
1508. 228461887 c.5425G>A p.A1809T missense 0.00001706●●●●●●
1509. 228402604 c.1633A>G p.I545V missense 0.00001706●●●●●●
1510. 228402610 c.1639G>A p.G547S missense 0.00001705●●●●●●
1511. 228468422 c.8122G>A p.V2708M missense 0.00001705●●●●●●
1512. 228548086 c.19493C>T p.S6498L missense 0.00001704●●●●●●
1513. 228529240 c.17959C>T p.R5987W missense 0.00001703●●●●●●
1514. 228469645 c.8209G>A p.G2737S missense 0.00001702●●●●●●
1515. 228469834 c.8398G>A p.A2800T missense 0.00001702●●●●●●
1516. 228495929 c.12584A>G p.Q4195R missense 0.00001702●●●●●●
1517. 228402634 c.1663C>T p.L555F missense 0.00001701●●●●●●
1518. 228402691 c.1720C>G p.L574V missense 0.00001700●●●●●●
1519. 228402631 c.1660A>C p.K554Q missense 0.00001700●●●●●●
1520. 228404740 c.2404A>G p.M802V missense 0.00001700●●●●●●
1521. 228548074 c.19481C>G p.P6494R missense 0.00001700●●●●●●
1522. 228494993 c.12227G>T p.S4076I missense 0.00001699●●●●●●
1523. 228548066 c.19473T>A p.D6491E missense 0.00001699●●●●●●
1524. 228434498 c.4027G>A p.V1343I missense 0.00001698●●●●●●
1525. 228468410 c.8110G>A p.V2704M missense 0.00001698●●●●●●
1526. 228547896 c.19303G>A p.G6435R missense 0.00001697●●●●●●
1527. 228461923 c.5461G>A p.E1821K missense 0.00001695●●●●●●
1528. 228509912 c.15370G>A p.A5124T missense 0.00001695●●●●●●
1529. 228524755 c.16588G>A p.V5530M missense 0.00001695●●●●●●
1530. 228469648 c.8212A>G p.I2738V missense 0.00001694●●●●●●
1531. 228528909 c.17811C>G p.D5937E missense 0.00001694●●●●●●
1532. 228404755 c.2419G>A p.V807M missense 0.00001693●●●●●●
1533. 228431127 c.3173G>T p.G1058V missense 0.00001693●●●●●●
1534. 228474582 c.9386C>G p.T3129S missense 0.00001693●●●●●●
1535. 228402025 c.1409C>T p.A470V missense 0.00001693●●●●●●
1536. 228468401 c.8101C>T p.R2701W missense 0.00001692●●●●●●
1537. 228461938 c.5476G>A p.V1826M missense 0.00001691●●●●●●
1538. 228495982 c.12637C>T p.R4213C missense 0.00001691●●●●●●
1539. 228548044 c.19451G>A p.G6484D missense 0.00001691●●●●●●
1540. 228462110 c.5648G>C p.R1883P missense 0.00001690●●●●●●
1541. 228467945 c.7729T>G p.F2577V missense 0.00001689●●●●●●
1542. 228548038 c.19445G>A p.C6482Y missense 0.00001689●●●●●●
1543. 228404950 c.2614G>A p.V872M missense 0.00001688●●●●●●
1544. 228505634 c.13891G>C p.E4631Q missense 0.00001687●●●●●●
1545. 228404764 c.2428G>A p.V810M missense 0.00001686●●●●●●
1546. 228461972 c.5510C>A p.A1837E missense 0.00001684●●●●●●
1547. 228466410 c.6880C>G p.R2294G missense 0.00001683●●●●●●
1548. 228471449 c.8983C>T p.R2995W missense 0.00001682●●●●●●
1549. 228529863 c.18078G>T p.E6026D missense 0.00001682●●●●●●
1550. 228467067 c.7318C>T p.R2440W missense 0.00001681●●●●●●
1551. 228469753 c.8317G>A p.G2773S missense 0.00001681●●●●●●
1552. 228404933 c.2597G>A p.G866D missense 0.00001680●●●●●●
1553. 228465542 c.6842C>T p.A2281V missense 0.00001680●●●●●●
1554. 228404927 c.2591A>T p.D864V missense 0.00001679●●●●●●
1555. 228481299 c.11113G>T p.A3705S missense 0.00001679●●●●●●
1556. 228456314 c.4945G>A p.E1649K missense 0.00001678●●●●●●
1557. 228456473 c.5104G>C p.G1702R missense 0.00001678●●●●●●
1558. 228474569 c.9373C>G p.P3125A missense 0.00001678●●●●●●
1559. 228404896 c.2560C>T p.R854W missense 0.00001677●●●●●●
1560. 228452065 c.4834C>T p.R1612W missense 0.00001677●●●●●●
1561. 228462008 c.5546G>A p.R1849Q missense 0.00001677●●●●●●
1562. 228465538 c.6838C>G p.R2280G missense 0.00001677●●●●●●
1563. 228505641 c.13898G>A p.R4633Q missense 0.00001676●●●●●●
1564. 228444621 c.4579G>A p.V1527M missense 0.00001676●●●●●●
1565. 228463527 c.6020T>A p.L2007Q missense 0.00001676●●●●●●
1566. 228467883 c.7667G>T p.R2556L missense 0.00001676●●●●●●
1567. 228475400 c.9550C>A p.P3184T missense 0.00001675●●●●●●
1568. 228434478 c.4007G>A p.R1336Q missense 0.00001675●●●●●●
1569. 228495917 c.12572A>G p.Q4191R missense 0.00001675●●●●●●
1570. 228456449 c.5080G>A p.G1694R missense 0.00001674●●●●●●
1571. 228466927 c.7178C>G p.P2393R missense 0.00001674●●●●●●
1572. 228503701 c.13166T>C p.V4389A missense 0.00001674●●●●●●
1573. 228529882 c.18097C>G p.L6033V missense 0.00001674●●●●●●
1574. 228547948 c.19355G>T p.R6452L missense 0.00001674●●●●●●
1575. 228547968 c.19375C>T p.H6459Y missense 0.00001674●●●●●●
1576. 228520590 c.15682G>T p.D5228Y missense 0.00001673●●●●●●
1577. 228402126 c.1510T>G p.C504G missense 0.00001672●●●●●●
1578. 228444615 c.4573C>A p.L1525M missense 0.00001672●●●●●●
1579. 228469732 c.8296G>A p.D2766N missense 0.00001672●●●●●●
1580. 228430996 c.3042G>A p.M1014I missense 0.00001672●●●●●●
1581. 228469731 c.8295C>G p.S2765R missense 0.00001672●●●●●●
1582. 228402048 c.1432A>G p.T478A missense 0.00001671●●●●●●
1583. 228469720 c.8284G>A p.E2762K missense 0.00001669●●●●●●
1584. 228467022 c.7273G>A p.V2425M missense 0.00001669●●●●●●
1585. 228468365 c.8065A>G p.S2689G missense 0.00001668●●●●●●
1586. 228471392 c.8926G>T p.A2976S missense 0.00001668●●●●●●
1587. 228466530 c.7000A>G p.K2334E missense 0.00001667●●●●●●
1588. 228466438 c.6908A>G p.E2303G missense 0.00001667●●●●●●
1589. 228466449 c.6919G>A p.G2307S missense 0.00001667●●●●●●
1590. 228469669 c.8233A>G p.M2745V missense 0.00001667●●●●●●
1591. 228471231 c.8765T>C p.L2922P missense 0.00001667●●●●●●
1592. 228469674 c.8238G>T p.E2746D missense 0.00001666●●●●●●
1593. 228456386 c.5017C>T p.R1673C missense 0.00001666●●●●●●
1594. 228471255 c.8789A>G p.K2930R missense 0.00001666●●●●●●
1595. 228481078 c.10892G>T p.G3631V missense 0.00001666●●●●●●
1596. 228474485 c.9289G>A p.V3097I missense 0.00001665●●●●●●
1597. 228452027 c.4796C>T p.A1599V missense 0.00001665●●●●●●
1598. 228456372 c.5003C>A p.S1668Y missense 0.00001665●●●●●●
1599. 228469705 c.8269T>C p.C2757R missense 0.00001665●●●●●●
1600. 228509429 c.14887C>A p.R4963S missense 0.00001665●●●●●●
1601. 228509430 c.14888G>C p.R4963P missense 0.00001665●●●●●●
1602. 228524822 c.16655C>T p.T5552M missense 0.00001665●●●●●●
1603. 228475448 c.9598G>A p.G3200S missense 0.00001664●●●●●●
1604. 228468285 c.7985G>A p.G2662D missense 0.00001664●●●●●●
1605. 228433353 c.3721G>A p.G1241R missense 0.00001663●●●●●●
1606. 228527731 c.17344C>G p.L5782V missense 0.00001663●●●●●●
1607. 228437914 c.4282C>T p.R1428W missense 0.00001663●●●●●●
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1609. 228474495 c.9299G>A p.R3100Q missense 0.00001663●●●●●●
1610. 228496881 c.12821C>T p.S4274F missense 0.00001663●●●●●●
1611. 228527737 c.17350T>G p.F5784V missense 0.00001663●●●●●●
1612. 228474519 c.9323C>T p.T3108I missense 0.00001662●●●●●●
1613. 228475607 c.9757C>T p.R3253W missense 0.00001662●●●●●●
1614. 228479643 c.10384G>A p.V3462M missense 0.00001662●●●●●●
1615. 228451889 c.4658C>T p.T1553M missense 0.00001662●●●●●●
1616. 228451997 c.4766G>A p.R1589Q missense 0.00001662●●●●●●
1617. 228466596 c.7066G>A p.E2356K missense 0.00001662●●●●●●
1618. 228468320 c.8020G>A p.E2674K missense 0.00001662●●●●●●
1619. 228475602 c.9752G>C p.S3251T missense 0.00001662●●●●●●
1620. 228475467 c.9617G>T p.C3206F missense 0.00001661●●●●●●
1621. 228431058 c.3104G>A p.C1035Y missense 0.00001661●●●●●●
1622. 228431064 c.3110G>A p.R1037Q missense 0.00001661●●●●●●
1623. 228437905 c.4273G>A p.G1425R missense 0.00001661●●●●●●
1624. 228444553 c.4511C>T p.A1504V missense 0.00001661●●●●●●
1625. 228444573 c.4531G>A p.E1511K missense 0.00001661●●●●●●
1626. 228475593 c.9743C>T p.P3248L missense 0.00001661●●●●●●
1627. 228475782 c.9832G>A p.G3278R missense 0.00001661●●●●●●
1628. 228475968 c.10018G>A p.A3340T missense 0.00001661●●●●●●
1629. 228497255 c.13007T>C p.V4336A missense 0.00001660●●●●●●
1630. 228434425 c.3954G>T p.Q1318H missense 0.00001660●●●●●●
1631. 228432239 c.3448G>A p.G1150S missense 0.00001660●●●●●●
1632. 228444435 c.4393G>A p.E1465K missense 0.00001660●●●●●●
1633. 228451850 c.4619C>T p.A1540V missense 0.00001660●●●●●●
1634. 228451984 c.4753G>C p.V1585L missense 0.00001660●●●●●●
1635. 228475479 c.9629C>T p.S3210F missense 0.00001660●●●●●●
1636. 228480239 c.10619T>G p.F3540C missense 0.00001660●●●●●●
1637. 228497258 c.13010C>A p.T4337K missense 0.00001660●●●●●●
1638. 228527689 c.17302G>A p.A5768T missense 0.00001660●●●●●●
1639. 228451964 c.4733C>T p.S1578L missense 0.00001659●●●●●●
1640. 228475548 c.9698G>T p.R3233L missense 0.00001659●●●●●●
1641. 228475515 c.9665A>G p.N3222S missense 0.00001659●●●●●●
1642. 228432056 c.3265G>A p.G1089R missense 0.00001659●●●●●●
1643. 228437703 c.4071C>G p.H1357Q missense 0.00001659●●●●●●
1644. 228437747 c.4115G>A p.C1372Y missense 0.00001659●●●●●●
1645. 228480245 c.10625A>C p.E3542A missense 0.00001659●●●●●●
1646. 228444369 c.4327G>A p.A1443T missense 0.00001658●●●●●●
1647. 228479681 c.10422C>A p.S3474R missense 0.00001658●●●●●●
1648. 228495848 c.12503C>G p.A4168G missense 0.00001658●●●●●●
1649. 228497213 c.12965G>A p.S4322N missense 0.00001658●●●●●●
1650. 228497224 c.12976G>C p.G4326R missense 0.00001658●●●●●●
1651. 228505777 c.14034G>T p.Q4678H missense 0.00001658●●●●●●
1652. 228434441 c.3970G>C p.D1324H missense 0.00001657●●●●●●
1653. 228475818 c.9868A>G p.T3290A missense 0.00001657●●●●●●
1654. 228523954 c.16520T>C p.L5507P missense 0.00001657●●●●●●
1655. 228505721 c.13978A>G p.M4660V missense 0.00001657●●●●●●
1656. 228437818 c.4186G>A p.V1396I missense 0.00001657●●●●●●
1657. 228481143 c.10957G>C p.A3653P missense 0.00001657●●●●●●
1658. 228412318 c.2812A>G p.M938V missense 0.00001657●●●●●●
1659. 228434420 c.3949G>T p.V1317L missense 0.00001657●●●●●●
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1707. 228468044 c.7828C>T p.R2610W missense 0.00001639●●●●●●
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1709. 228506906 c.14453C>T p.T4818I missense 0.00001636●●●●●●
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1714. 228463674 c.6167T>G p.F2056C missense 0.00001606●●●●●●
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1718. 228547530 c.18937C>T p.P6313S missense 0.00001587●●●●●●
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1720. 228547555 c.18962C>T p.P6321L missense 0.00001583●●●●●●
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1723. 228547477 c.18884G>A p.G6295D missense 0.00001576●●●●●●
1724. 228468042 c.7826G>C p.G2609A missense 0.00001558●●●●●●
1725. 228547510 c.18917C>T p.T6306M missense 0.00001554●●●●●●
1726. 228399654 c.170G>A p.R57H missense 0.00001551●●●●●●
1727. 228521366 c.15939G>T p.K5313N missense 0.00001549●●●●●●
1728. 228506753 c.14300G>A p.R4767H missense 0.00001545●●●●●●
1729. 228400187 c.703G>A p.A235T missense 0.00001541●●●●●●
1730. 228399653 c.169C>T p.R57C missense 0.00001534●●●●●●
1731. 228496815 c.12755T>C p.I4252T missense 0.00001533●●●●●●
1732. 228547497 c.18904A>T p.T6302S missense 0.00001524●●●●●●
1733. 228468037 c.7821C>A p.H2607Q missense 0.00001516●●●●●●
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1738. 228547803 c.19210G>A p.A6404T missense 0.00001503●●●●●●
1739. 228547804 c.19211C>T p.A6404V missense 0.00001490●●●●●●
1740. 228521334 c.15907G>C p.A5303P missense 0.00001465●●●●●●
1741. 228399644 c.160G>A p.A54T missense 0.00001464●●●●●●
1742. 228496850 c.12790G>C p.G4264R missense 0.00001460●●●●●●
1743. 228524710 c.16543C>T p.P5515S missense 0.00001449●●●●●●
1744. 228403382 c.1947G>C p.Q649H missense 0.00001448●●●●●●
1745. 228464355 c.6425A>C p.D2142A missense 0.00001437●●●●●●
1746. 228464355 c.6425A>T p.D2142V missense 0.00001437●●●●●●
1747. 228399641 c.157G>A p.G53S missense 0.00001422●●●●●●
1748. 228467722 c.7597G>A p.A2533T missense 0.00001418●●●●●●
1749. 228463539 c.6032T>C p.L2011P missense 0.00001417●●●●●●
1750. 228463667 c.6160C>G p.R2054G missense 0.00001417●●●●●●
1751. 228464351 c.6421G>A p.E2141K missense 0.00001404●●●●●●
1752. 228473975 c.9201G>C p.Q3067H missense 0.00001397●●●●●●
1753. 228464916 c.6656G>T p.C2219F missense 0.00001396●●●●●●
1754. 228496832 c.12772G>T p.D4258Y missense 0.00001383●●●●●●
1755. 228473828 c.9054G>C p.E3018D missense 0.00001383●●●●●●
1756. 228468030 c.7814T>G p.I2605S missense 0.00001366●●●●●●
1757. 228463542 c.6035C>T p.T2012M missense 0.00001361●●●●●●
1758. 228463664 c.6157G>A p.D2053N missense 0.00001355●●●●●●
1759. 228504541 c.13417G>C p.V4473L missense 0.00001355●●●●●●
1760. 228403399 c.1964G>A p.S655N missense 0.00001353●●●●●●
1761. 228495136 c.12370C>T p.R4124W missense 0.00001338●●●●●●
1762. 228526037 c.17048A>C p.E5683A missense 0.00001338●●●●●●
1763. 228526037 c.17048A>T p.E5683V missense 0.00001338●●●●●●
1764. 228399633 c.149T>G p.V50G missense 0.00001331●●●●●●
1765. 228403405 c.1970A>T p.Y657F missense 0.00001331●●●●●●
1766. 228399632 c.148G>A p.V50M missense 0.00001330●●●●●●
1767. 228463544 c.6037C>T p.R2013W missense 0.00001330●●●●●●
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1769. 228464346 c.6416G>A p.R2139Q missense 0.00001325●●●●●●
1770. 228506762 c.14309G>T p.R4770L missense 0.00001325●●●●●●
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1773. 228495134 c.12368C>T p.T4123M missense 0.00001314●●●●●●
1774. 228526012 c.17023G>C p.A5675P missense 0.00001311●●●●●●
1775. 228403423 c.1988G>A p.R663H missense 0.00001300●●●●●●
1776. 228467732 c.7607G>T p.G2536V missense 0.00001299●●●●●●
1777. 228403426 c.1991C>T p.T664I missense 0.00001280●●●●●●
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1783. 228511061 c.15406G>C p.E5136Q missense 0.00001255●●●●●●
1784. 228495130 c.12364G>T p.A4122S missense 0.00001252●●●●●●
1785. 228473965 c.9191C>T p.T3064I missense 0.00001243●●●●●●
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1793. 228506888 c.14435G>T p.G4812V missense 0.00001227●●●●●●
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1814. 228464334 c.6404T>C p.L2135P missense 0.00001172●●●●●●
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1818. 228473847 c.9073C>T p.R3025C missense 0.00001163●●●●●●
1819. 228399584 c.100G>A p.V34M missense 0.00001160●●●●●●
1820. 228462297 c.5708C>A p.S1903Y missense 0.00001151●●●●●●
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1822. 228403527 c.2092C>T p.R698W missense 0.00001136●●●●●●
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1824. 228474678 c.9482A>G p.D3161G missense 0.00001132●●●●●●
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1826. 228547831 c.19238C>G p.S6413C missense 0.00001117●●●●●●
1827. 228511086 c.15431G>T p.S5144I missense 0.00001115●●●●●●
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1829. 228462308 c.5719A>T p.T1907S missense 0.00001110●●●●●●
1830. 228462512 c.5923G>A p.A1975T missense 0.00001107●●●●●●
1831. 228462309 c.5720C>T p.T1907I missense 0.00001106●●●●●●
1832. 228403473 c.2038G>A p.A680T missense 0.00001101●●●●●●
1833. 228494118 c.11705A>C p.E3902A missense 0.00001097●●●●●●
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1842. 228403498 c.2063G>T p.G688V missense 0.00001063●●●●●●
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1851. 228473862 c.9088C>T p.P3030S missense 0.00001026●●●●●●
1852. 228506789 c.14336C>A p.A4779E missense 0.00001026●●●●●●
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1897. 228463598 c.6091A>C p.K2031Q missense 0.00000970●●●●●●
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1899. 228547851 c.19258G>C p.E6420Q missense 0.00000967●●●●●●
1900. 228506857 c.14404C>G p.H4802D missense 0.00000966●●●●●●
1901. 228548175 c.19582G>T p.G6528C missense 0.00000966●●●●●●
1902. 228468482 c.8182C>T p.R2728W missense 0.00000963●●●●●●
1903. 228548421 c.19828C>T p.P6610S missense 0.00000963●●●●●●
1904. 228509675 c.15133C>T p.P5045S missense 0.00000962●●●●●●
1905. 228525667 c.16823C>T p.T5608I missense 0.00000962●●●●●●
1906. 228464948 c.6688G>A p.A2230T missense 0.00000961●●●●●●
1907. 228506855 c.14402C>T p.S4801L missense 0.00000961●●●●●●
1908. 228461689 c.5356A>G p.S1786G missense 0.00000959●●●●●●
1909. 228468479 c.8179G>A p.A2727T missense 0.00000958●●●●●●
1910. 228525025 c.16741C>T p.P5581S missense 0.00000958●●●●●●
1911. 228473874 c.9100G>A p.E3034K missense 0.00000957●●●●●●
1912. 228528813 c.17715G>T p.W5905C missense 0.00000957●●●●●●
1913. 228464949 c.6689C>G p.A2230G missense 0.00000955●●●●●●
1914. 228528443 c.17551G>A p.A5851T missense 0.00000954●●●●●●
1915. 228548259 c.19666G>A p.E6556K missense 0.00000950●●●●●●
1916. 228509771 c.15229G>A p.E5077K missense 0.00000949●●●●●●
1917. 228548394 c.19801G>T p.G6601W missense 0.00000946●●●●●●
1918. 228548394 c.19801G>A p.G6601R missense 0.00000946●●●●●●
1919. 228524982 c.16698C>A p.D5566E missense 0.00000945●●●●●●
1920. 228548385 c.19792G>A p.G6598R missense 0.00000944●●●●●●
1921. 228525675 c.16831T>A p.Y5611N missense 0.00000944●●●●●●
1922. 228525676 c.16832A>G p.Y5611C missense 0.00000943●●●●●●
1923. 228467978 c.7762G>A p.V2588I missense 0.00000942●●●●●●
1924. 228504475 c.13351T>C p.F4451L missense 0.00000942●●●●●●
1925. 228506845 c.14392G>A p.A4798T missense 0.00000942●●●●●●
1926. 228461542 c.5209A>G p.I1737V missense 0.00000941●●●●●●
1927. 228473923 c.9149T>G p.L3050R missense 0.00000941●●●●●●
1928. 228494143 c.11730G>C p.Q3910H missense 0.00000940●●●●●●
1929. 228548271 c.19678C>G p.R6560G missense 0.00000940●●●●●●
1930. 228548164 c.19571G>A p.R6524Q missense 0.00000939●●●●●●
1931. 228548381 c.19788C>G p.N6596K missense 0.00000939●●●●●●
1932. 228524974 c.16690G>A p.D5564N missense 0.00000937●●●●●●
1933. 228468476 c.8176C>T p.R2726W missense 0.00000937●●●●●●
1934. 228473922 c.9148C>T p.L3050F missense 0.00000933●●●●●●
1935. 228524735 c.16568G>A p.G5523D missense 0.00000933●●●●●●
1936. 228511157 c.15502G>A p.E5168K missense 0.00000932●●●●●●
1937. 228511305 c.15650A>G p.D5217G missense 0.00000931●●●●●●
1938. 228430902 c.2948C>T p.A983V missense 0.00000929●●●●●●
1939. 228495098 c.12332C>G p.A4111G missense 0.00000929●●●●●●
1940. 228495098 c.12332C>T p.A4111V missense 0.00000929●●●●●●
1941. 228509147 c.14605G>C p.D4869H missense 0.00000925●●●●●●
1942. 228548313 c.19720C>T p.R6574C missense 0.00000925●●●●●●
1943. 228548337 c.19744G>A p.G6582S missense 0.00000925●●●●●●
1944. 228509145 c.14603G>C p.G4868A missense 0.00000924●●●●●●
1945. 228548322 c.19729C>T p.R6577C missense 0.00000924●●●●●●
1946. 228461708 c.5375G>C p.R1792P missense 0.00000924●●●●●●
1947. 228509145 c.14603G>A p.G4868D missense 0.00000924●●●●●●
1948. 228509145 c.14603G>T p.G4868V missense 0.00000924●●●●●●
1949. 228509178 c.14636T>C p.I4879T missense 0.00000924●●●●●●
1950. 228511179 c.15524A>G p.N5175S missense 0.00000923●●●●●●
1951. 228548323 c.19730G>A p.R6577H missense 0.00000923●●●●●●
1952. 228509100 c.14558C>T p.A4853V missense 0.00000922●●●●●●
1953. 228509132 c.14590A>G p.T4864A missense 0.00000922●●●●●●
1954. 228548308 c.19715G>A p.C6572Y missense 0.00000922●●●●●●
1955. 228473917 c.9143A>G p.N3048S missense 0.00000921●●●●●●
1956. 228430941 c.2987C>T p.A996V missense 0.00000921●●●●●●
1957. 228509189 c.14647T>C p.F4883L missense 0.00000921●●●●●●
1958. 228511200 c.15545A>G p.H5182R missense 0.00000920●●●●●●
1959. 228511192 c.15537G>C p.Q5179H missense 0.00000920●●●●●●
1960. 228511196 c.15541G>A p.G5181S missense 0.00000920●●●●●●
1961. 228511205 c.15550C>G p.L5184V missense 0.00000920●●●●●●
1962. 228511211 c.15556A>G p.I5186V missense 0.00000919●●●●●●
1963. 228548301 c.19708T>G p.S6570A missense 0.00000919●●●●●●
1964. 228430904 c.2950A>G p.K984E missense 0.00000918●●●●●●
1965. 228509195 c.14653G>T p.G4885C missense 0.00000918●●●●●●
1966. 228509796 c.15254G>A p.G5085E missense 0.00000918●●●●●●
1967. 228511229 c.15574G>A p.A5192T missense 0.00000918●●●●●●
1968. 228511237 c.15582G>A p.M5194I missense 0.00000917●●●●●●
1969. 228511248 c.15593G>A p.R5198H missense 0.00000917●●●●●●
1970. 228525841 c.16997T>G p.L5666R missense 0.00000917●●●●●●
1971. 228511235 c.15580A>G p.M5194V missense 0.00000916●●●●●●
1972. 228511256 c.15601G>C p.A5201P missense 0.00000916●●●●●●
1973. 228511257 c.15602C>T p.A5201V missense 0.00000916●●●●●●
1974. 228511259 c.15604G>A p.E5202K missense 0.00000916●●●●●●
1975. 228464961 c.6701T>A p.V2234E missense 0.00000915●●●●●●
1976. 228461722 c.5389G>T p.G1797W missense 0.00000914●●●●●●
1977. 228511264 c.15609C>G p.N5203K missense 0.00000913●●●●●●
1978. 228511266 c.15611G>A p.S5204N missense 0.00000913●●●●●●
1979. 228511271 c.15616G>A p.G5206S missense 0.00000913●●●●●●
1980. 228461731 c.5398T>G p.F1800V missense 0.00000912●●●●●●
1981. 228494331 c.11918C>G p.T3973S missense 0.00000912●●●●●●
1982. 228525705 c.16861A>C p.I5621L missense 0.00000912●●●●●●
1983. 228525709 c.16865C>G p.T5622R missense 0.00000912●●●●●●
1984. 228525709 c.16865C>T p.T5622M missense 0.00000912●●●●●●
1985. 228430907 c.2953G>T p.D985Y missense 0.00000911●●●●●●
1986. 228473904 c.9130C>G p.P3044A missense 0.00000911●●●●●●
1987. 228547865 c.19272G>A p.M6424I missense 0.00000911●●●●●●
1988. 228464964 c.6704A>G p.Y2235C missense 0.00000910●●●●●●
1989. 228525832 c.16988A>G p.D5663G missense 0.00000909●●●●●●
1990. 228494327 c.11914C>T p.L3972F missense 0.00000908●●●●●●
1991. 228494327 c.11914C>G p.L3972V missense 0.00000908●●●●●●
1992. 228494159 c.11746C>T p.P3916S missense 0.00000907●●●●●●
1993. 228509076 c.14534C>T p.P4845L missense 0.00000906●●●●●●
1994. 228525823 c.16979C>G p.A5660G missense 0.00000905●●●●●●
1995. 228527788 c.17401C>A p.Q5801K missense 0.00000905●●●●●●
1996. 228464972 c.6712G>C p.D2238H missense 0.00000904●●●●●●
1997. 228464972 c.6712G>T p.D2238Y missense 0.00000904●●●●●●
1998. 228509075 c.14533C>A p.P4845T missense 0.00000904●●●●●●
1999. 228464970 c.6710G>A p.C2237Y missense 0.00000903●●●●●●
2000. 228400415 c.931T>A p.C311S missense 0.00000902●●●●●●
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2002. 228494321 c.11908G>A p.A3970T missense 0.00000901●●●●●●
2003. 228509217 c.14675T>A p.M4892K missense 0.00000900●●●●●●
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2005. 228524739 c.16572C>G p.H5524Q missense 0.00000900●●●●●●
2006. 228525812 c.16968G>C p.W5656C missense 0.00000900●●●●●●
2007. 228548146 c.19553G>A p.G6518E missense 0.00000900●●●●●●
2008. 228548148 c.19555C>T p.H6519Y missense 0.00000900●●●●●●
2009. 228464162 c.6232C>T p.R2078W missense 0.00000898●●●●●●
2010. 228464979 c.6719A>G p.H2240R missense 0.00000898●●●●●●
2011. 228465002 c.6742G>C p.V2248L missense 0.00000898●●●●●●
2012. 228538637 c.18412C>A p.Q6138K missense 0.00000898●●●●●●
2013. 228464997 c.6737C>A p.A2246D missense 0.00000896●●●●●●
2014. 228509637 c.15095T>C p.F5032S missense 0.00000895●●●●●●
2015. 228525760 c.16916G>A p.R5639H missense 0.00000895●●●●●●
2016. 228525801 c.16957C>T p.R5653W missense 0.00000895●●●●●●
2017. 228525801 c.16957C>G p.R5653G missense 0.00000895●●●●●●
2018. 228402799 c.1828G>T p.A610S missense 0.00000894●●●●●●
2019. 228525765 c.16921C>T p.L5641F missense 0.00000894●●●●●●
2020. 228525774 c.16930A>T p.T5644S missense 0.00000894●●●●●●
2021. 228529147 c.17866A>G p.I5956V missense 0.00000894●●●●●●
2022. 228529147 c.17866A>T p.I5956F missense 0.00000894●●●●●●
2023. 228412435 c.2929G>C p.E977Q missense 0.00000893●●●●●●
2024. 228474612 c.9416C>T p.A3139V missense 0.00000893●●●●●●
2025. 228496001 c.12656T>C p.L4219P missense 0.00000892●●●●●●
2026. 228548143 c.19550T>G p.V6517G missense 0.00000892●●●●●●
2027. 228430962 c.3008G>T p.S1003I missense 0.00000891●●●●●●
2028. 228509226 c.14684A>T p.Q4895L missense 0.00000891●●●●●●
2029. 228548142 c.19549G>C p.V6517L missense 0.00000891●●●●●●
2030. 228400250 c.766C>T p.R256C missense 0.00000890●●●●●●
2031. 228509060 c.14518G>A p.A4840T missense 0.00000890●●●●●●
2032. 228525792 c.16948A>G p.S5650G missense 0.00000890●●●●●●
2033. 228505167 c.13564C>T p.L4522F missense 0.00000889●●●●●●
2034. 228528836 c.17738T>A p.M5913K missense 0.00000888●●●●●●
2035. 228548139 c.19546A>C p.S6516R missense 0.00000888●●●●●●
2036. 228509051 c.14509G>T p.A4837S missense 0.00000887●●●●●●
2037. 228462145 c.5683G>A p.V1895M missense 0.00000885●●●●●●
2038. 228402515 c.1544C>A p.P515H missense 0.00000885●●●●●●
2039. 228464184 c.6254C>T p.A2085V missense 0.00000885●●●●●●
2040. 228494304 c.11891G>T p.G3964V missense 0.00000882●●●●●●
2041. 228467966 c.7750G>A p.E2584K missense 0.00000881●●●●●●
2042. 228467969 c.7753G>A p.D2585N missense 0.00000881●●●●●●
2043. 228538625 c.18400G>A p.A6134T missense 0.00000881●●●●●●
2044. 228404989 c.2653G>C p.E885Q missense 0.00000880●●●●●●
2045. 228430920 c.2966A>C p.H989P missense 0.00000880●●●●●●
2046. 228494189 c.11776G>A p.G3926S missense 0.00000880●●●●●●
2047. 228524744 c.16577C>A p.S5526Y missense 0.00000880●●●●●●
2048. 228404987 c.2651C>T p.S884F missense 0.00000879●●●●●●
2049. 228467122 c.7373C>T p.S2458F missense 0.00000879●●●●●●
2050. 228509829 c.15287G>A p.R5096Q missense 0.00000879●●●●●●
2051. 228529312 c.18031T>C p.W6011R missense 0.00000878●●●●●●
2052. 228402525 c.1554T>G p.D518E missense 0.00000877●●●●●●
2053. 228527779 c.17392A>G p.T5798A missense 0.00000877●●●●●●
2054. 228527780 c.17393C>T p.T5798M missense 0.00000877●●●●●●
2055. 228468455 c.8155C>T p.H2719Y missense 0.00000876●●●●●●
2056. 228402529 c.1558G>C p.V520L missense 0.00000875●●●●●●
2057. 228402529 c.1558G>A p.V520M missense 0.00000875●●●●●●
2058. 228402787 c.1816A>T p.T606S missense 0.00000875●●●●●●
2059. 228529309 c.18028G>A p.V6010M missense 0.00000874●●●●●●
2060. 228494205 c.11792C>T p.A3931V missense 0.00000873●●●●●●
2061. 228505602 c.13859C>T p.P4620L missense 0.00000873●●●●●●
2062. 228538619 c.18394G>A p.E6132K missense 0.00000873●●●●●●
2063. 228464198 c.6268G>C p.E2090Q missense 0.00000872●●●●●●
2064. 228494744 c.12069G>T p.K4023N missense 0.00000872●●●●●●
2065. 228505601 c.13858C>G p.P4620A missense 0.00000872●●●●●●
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2067. 228402782 c.1811C>T p.P604L missense 0.00000871●●●●●●
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2071. 228494214 c.11801G>T p.R3934L missense 0.00000869●●●●●●
2072. 228400397 c.913G>C p.D305H missense 0.00000869●●●●●●
2073. 228461512 c.5179C>T p.P1727S missense 0.00000869●●●●●●
2074. 228400286 c.802G>A p.E268K missense 0.00000868●●●●●●
2075. 228402541 c.1570A>G p.R524G missense 0.00000868●●●●●●
2076. 228464208 c.6278C>G p.T2093R missense 0.00000868●●●●●●
2077. 228505308 c.13705T>C p.W4569R missense 0.00000868●●●●●●
2078. 228467963 c.7747C>T p.H2583Y missense 0.00000867●●●●●●
2079. 228400394 c.910T>G p.S304A missense 0.00000867●●●●●●
2080. 228467116 c.7367C>T p.S2456L missense 0.00000867●●●●●●
2081. 228468440 c.8140G>T p.G2714C missense 0.00000867●●●●●●
2082. 228505180 c.13577C>T p.P4526L missense 0.00000867●●●●●●
2083. 228474597 c.9401C>T p.T3134I missense 0.00000866●●●●●●
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2085. 228402554 c.1583C>A p.S528Y missense 0.00000865●●●●●●
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2087. 228464213 c.6283A>T p.T2095S missense 0.00000865●●●●●●
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2091. 228400297 c.813G>T p.W271C missense 0.00000863●●●●●●
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2093. 228431141 c.3187T>A p.F1063I missense 0.00000863●●●●●●
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2095. 228494288 c.11875T>C p.Y3959H missense 0.00000863●●●●●●
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2100. 228547884 c.19291G>A p.E6431K missense 0.00000862●●●●●●
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2102. 228494285 c.11872G>A p.E3958K missense 0.00000862●●●●●●
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2110. 228529199 c.17918A>G p.Q5973R missense 0.00000861●●●●●●
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2112. 228401899 c.1283G>A p.R428Q missense 0.00000860●●●●●●
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2129. 228402001 c.1385C>T p.A462V missense 0.00000858●●●●●●
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2612. 228437875 c.4243G>A p.A1415T missense 0.00000829●●●●●●
2613. 228444364 c.4322T>C p.V1441A missense 0.00000829●●●●●●
2614. 228444370 c.4328C>G p.A1443G missense 0.00000829●●●●●●
2615. 228444453 c.4411A>C p.T1471P missense 0.00000829●●●●●●
2616. 228444498 c.4456T>C p.S1486P missense 0.00000829●●●●●●
2617. 228444507 c.4465C>A p.R1489S missense 0.00000829●●●●●●
2618. 228444507 c.4465C>T p.R1489C missense 0.00000829●●●●●●
2619. 228444510 c.4468A>T p.M1490L missense 0.00000829●●●●●●
2620. 228444538 c.4496T>A p.L1499Q missense 0.00000829●●●●●●
2621. 228451933 c.4702T>C p.Y1568H missense 0.00000829●●●●●●
2622. 228451942 c.4711G>A p.G1571R missense 0.00000829●●●●●●
2623. 228475822 c.9872C>T p.A3291V missense 0.00000829●●●●●●
2624. 228475936 c.9986T>G p.L3329R missense 0.00000829●●●●●●
2625. 228479662 c.10403T>C p.M3468T missense 0.00000829●●●●●●
2626. 228479677 c.10418T>C p.L3473P missense 0.00000829●●●●●●
2627. 228479688 c.10429G>T p.A3477S missense 0.00000829●●●●●●
2628. 228479707 c.10448A>C p.K3483T missense 0.00000829●●●●●●
2629. 228480250 c.10630G>T p.V3544L missense 0.00000829●●●●●●
2630. 228480256 c.10636A>C p.N3546H missense 0.00000829●●●●●●
2631. 228481105 c.10919G>A p.G3640E missense 0.00000829●●●●●●
2632. 228481111 c.10925C>T p.T3642I missense 0.00000829●●●●●●
2633. 228481123 c.10937G>T p.R3646L missense 0.00000829●●●●●●
2634. 228481135 c.10949G>A p.S3650N missense 0.00000829●●●●●●
2635. 228481141 c.10955T>C p.M3652T missense 0.00000829●●●●●●
2636. 228482538 c.11453C>A p.T3818K missense 0.00000829●●●●●●
2637. 228495835 c.12490G>A p.G4164R missense 0.00000829●●●●●●
2638. 228495845 c.12500A>T p.D4167V missense 0.00000829●●●●●●
2639. 228495854 c.12509T>C p.V4170A missense 0.00000829●●●●●●
2640. 228497203 c.12955G>A p.G4319R missense 0.00000829●●●●●●
2641. 228497206 c.12958A>G p.T4320A missense 0.00000829●●●●●●
2642. 228497228 c.12980C>T p.T4327M missense 0.00000829●●●●●●
2643. 228497232 c.12984T>G p.C4328W missense 0.00000829●●●●●●
2644. 228497243 c.12995C>T p.A4332V missense 0.00000829●●●●●●
2645. 228505767 c.14024G>T p.G4675V missense 0.00000829●●●●●●
2646. 228505770 c.14027G>A p.R4676Q missense 0.00000829●●●●●●
2647. 228505776 c.14033A>C p.Q4678P missense 0.00000829●●●●●●
2648. 228505781 c.14038C>G p.L4680V missense 0.00000829●●●●●●
2649. 228523552 c.16466G>T p.G5489V missense 0.00000829●●●●●●
2650. 228523902 c.16468A>T p.T5490S missense 0.00000829●●●●●●
2651. 228523939 c.16505C>T p.A5502V missense 0.00000829●●●●●●
2652. 228523963 c.16529A>G p.Q5510R missense 0.00000829●●●●●●
2653. 228482663 c.11578C>A p.H3860N missense 0.00000828●●●●●●
2654. 228412282 c.2776G>A p.D926N missense 0.00000828●●●●●●
2655. 228433285 c.3653G>T p.G1218V missense 0.00000828●●●●●●
2656. 228475914 c.9964C>A p.Q3322K missense 0.00000828●●●●●●
2657. 228476542 c.10292C>T p.S3431F missense 0.00000828●●●●●●
2658. 228480350 c.10730G>A p.R3577K missense 0.00000828●●●●●●
2659. 228480407 c.10787G>A p.R3596H missense 0.00000828●●●●●●
2660. 228481218 c.11032A>T p.R3678W missense 0.00000828●●●●●●
2661. 228481248 c.11062G>A p.A3688T missense 0.00000828●●●●●●
2662. 228432176 c.3385C>T p.R1129W missense 0.00000828●●●●●●
2663. 228476386 c.10136C>T p.A3379V missense 0.00000828●●●●●●
2664. 228480283 c.10663G>A p.A3555T missense 0.00000828●●●●●●
2665. 228482069 c.11348C>T p.S3783L missense 0.00000828●●●●●●
2666. 228482723 c.11638T>C p.S3880P missense 0.00000828●●●●●●
2667. 228412298 c.2792G>A p.S931N missense 0.00000828●●●●●●
2668. 228412304 c.2798G>A p.S933N missense 0.00000828●●●●●●
2669. 228432092 c.3301G>A p.A1101T missense 0.00000828●●●●●●
2670. 228432093 c.3302C>G p.A1101G missense 0.00000828●●●●●●
2671. 228432093 c.3302C>A p.A1101D missense 0.00000828●●●●●●
2672. 228432116 c.3325A>G p.K1109E missense 0.00000828●●●●●●
2673. 228432122 c.3331G>T p.G1111W missense 0.00000828●●●●●●
2674. 228432137 c.3346T>G p.S1116A missense 0.00000828●●●●●●
2675. 228432146 c.3355A>C p.K1119Q missense 0.00000828●●●●●●
2676. 228432158 c.3367G>C p.E1123Q missense 0.00000828●●●●●●
2677. 228432185 c.3394G>A p.V1132M missense 0.00000828●●●●●●
2678. 228432188 c.3397C>G p.L1133V missense 0.00000828●●●●●●
2679. 228432212 c.3421G>T p.A1141S missense 0.00000828●●●●●●
2680. 228433163 c.3531G>C p.Q1177H missense 0.00000828●●●●●●
2681. 228433239 c.3607G>C p.G1203R missense 0.00000828●●●●●●
2682. 228433254 c.3622T>G p.S1208A missense 0.00000828●●●●●●
2683. 228433255 c.3623C>T p.S1208F missense 0.00000828●●●●●●
2684. 228433269 c.3637C>A p.R1213S missense 0.00000828●●●●●●
2685. 228433270 c.3638G>T p.R1213L missense 0.00000828●●●●●●
2686. 228433270 c.3638G>A p.R1213H missense 0.00000828●●●●●●
2687. 228433306 c.3674T>C p.V1225A missense 0.00000828●●●●●●
2688. 228433317 c.3685G>A p.G1229S missense 0.00000828●●●●●●
2689. 228433321 c.3689A>T p.K1230I missense 0.00000828●●●●●●
2690. 228433327 c.3695A>T p.D1232V missense 0.00000828●●●●●●
2691. 228433328 c.3696T>A p.D1232E missense 0.00000828●●●●●●
2692. 228434267 c.3796A>C p.N1266H missense 0.00000828●●●●●●
2693. 228434274 c.3803T>A p.V1268E missense 0.00000828●●●●●●
2694. 228434276 c.3805C>G p.R1269G missense 0.00000828●●●●●●
2695. 228434331 c.3860C>G p.T1287R missense 0.00000828●●●●●●
2696. 228434333 c.3862G>A p.E1288K missense 0.00000828●●●●●●
2697. 228434340 c.3869C>G p.T1290R missense 0.00000828●●●●●●
2698. 228434352 c.3881A>T p.D1294V missense 0.00000828●●●●●●
2699. 228434367 c.3896G>A p.S1299N missense 0.00000828●●●●●●
2700. 228434370 c.3899C>T p.S1300F missense 0.00000828●●●●●●
2701. 228434394 c.3923C>T p.A1308V missense 0.00000828●●●●●●
2702. 228434396 c.3925G>A p.A1309T missense 0.00000828●●●●●●
2703. 228437795 c.4163A>G p.K1388R missense 0.00000828●●●●●●
2704. 228475830 c.9880C>T p.R3294W missense 0.00000828●●●●●●
2705. 228475833 c.9883T>G p.C3295G missense 0.00000828●●●●●●
2706. 228475896 c.9946G>A p.D3316N missense 0.00000828●●●●●●
2707. 228475905 c.9955T>C p.C3319R missense 0.00000828●●●●●●
2708. 228475906 c.9956G>A p.C3319Y missense 0.00000828●●●●●●
2709. 228475920 c.9970G>T p.G3324W missense 0.00000828●●●●●●
2710. 228475926 c.9976A>G p.M3326V missense 0.00000828●●●●●●
2711. 228476353 c.10103T>G p.L3368R missense 0.00000828●●●●●●
2712. 228476437 c.10187G>T p.G3396V missense 0.00000828●●●●●●
2713. 228476464 c.10214G>A p.R3405K missense 0.00000828●●●●●●
2714. 228476481 c.10231G>A p.D3411N missense 0.00000828●●●●●●
2715. 228476511 c.10261G>A p.G3421S missense 0.00000828●●●●●●
2716. 228476520 c.10270G>A p.V3424M missense 0.00000828●●●●●●
2717. 228476527 c.10277A>G p.D3426G missense 0.00000828●●●●●●
2718. 228476535 c.10285G>A p.E3429K missense 0.00000828●●●●●●
2719. 228476548 c.10298T>G p.V3433G missense 0.00000828●●●●●●
2720. 228476553 c.10303G>C p.G3435R missense 0.00000828●●●●●●
2721. 228476577 c.10327C>G p.L3443V missense 0.00000828●●●●●●
2722. 228476583 c.10333G>A p.V3445M missense 0.00000828●●●●●●
2723. 228476587 c.10337A>G p.K3446R missense 0.00000828●●●●●●
2724. 228479818 c.10559G>A p.C3520Y missense 0.00000828●●●●●●
2725. 228479839 c.10580C>A p.T3527N missense 0.00000828●●●●●●
2726. 228479842 c.10583C>T p.S3528L missense 0.00000828●●●●●●
2727. 228480281 c.10661C>T p.T3554I missense 0.00000828●●●●●●
2728. 228480286 c.10666G>T p.V3556L missense 0.00000828●●●●●●
2729. 228480307 c.10687A>C p.S3563R missense 0.00000828●●●●●●
2730. 228480322 c.10702G>A p.E3568K missense 0.00000828●●●●●●
2731. 228480333 c.10713G>C p.K3571N missense 0.00000828●●●●●●
2732. 228480392 c.10772G>A p.C3591Y missense 0.00000828●●●●●●
2733. 228480406 c.10786C>T p.R3596C missense 0.00000828●●●●●●
2734. 228480416 c.10796C>T p.A3599V missense 0.00000828●●●●●●
2735. 228480424 c.10804G>A p.D3602N missense 0.00000828●●●●●●
2736. 228480427 c.10807A>G p.T3603A missense 0.00000828●●●●●●
2737. 228480443 c.10823G>T p.C3608F missense 0.00000828●●●●●●
2738. 228480451 c.10831G>A p.G3611R missense 0.00000828●●●●●●
2739. 228480457 c.10837G>A p.E3613K missense 0.00000828●●●●●●
2740. 228480472 c.10852A>G p.M3618V missense 0.00000828●●●●●●
2741. 228480473 c.10853T>C p.M3618T missense 0.00000828●●●●●●
2742. 228480482 c.10862T>G p.V3621G missense 0.00000828●●●●●●
2743. 228481201 c.11015T>A p.L3672Q missense 0.00000828●●●●●●
2744. 228481206 c.11020C>A p.Q3674K missense 0.00000828●●●●●●
2745. 228481218 c.11032A>G p.R3678G missense 0.00000828●●●●●●
2746. 228481236 c.11050C>A p.R3684S missense 0.00000828●●●●●●
2747. 228481855 c.11134A>G p.M3712V missense 0.00000828●●●●●●
2748. 228481858 c.11137C>T p.P3713S missense 0.00000828●●●●●●
2749. 228481870 c.11149A>G p.I3717V missense 0.00000828●●●●●●
2750. 228481888 c.11167G>A p.E3723K missense 0.00000828●●●●●●
2751. 228481912 c.11191G>A p.A3731T missense 0.00000828●●●●●●
2752. 228481915 c.11194A>G p.T3732A missense 0.00000828●●●●●●
2753. 228481916 c.11195C>A p.T3732K missense 0.00000828●●●●●●
2754. 228481918 c.11197C>G p.L3733V missense 0.00000828●●●●●●
2755. 228481921 c.11200T>C p.W3734R missense 0.00000828●●●●●●
2756. 228481967 c.11246A>G p.H3749R missense 0.00000828●●●●●●
2757. 228481991 c.11270G>C p.R3757T missense 0.00000828●●●●●●
2758. 228481992 c.11271A>T p.R3757S missense 0.00000828●●●●●●
2759. 228481997 c.11276G>T p.S3759I missense 0.00000828●●●●●●
2760. 228482031 c.11310G>C p.Q3770H missense 0.00000828●●●●●●
2761. 228482057 c.11336C>T p.A3779V missense 0.00000828●●●●●●
2762. 228482066 c.11345A>C p.Y3782S missense 0.00000828●●●●●●
2763. 228482072 c.11351G>A p.C3784Y missense 0.00000828●●●●●●
2764. 228482074 c.11353G>A p.V3785M missense 0.00000828●●●●●●
2765. 228482080 c.11359G>A p.G3787R missense 0.00000828●●●●●●
2766. 228482087 c.11366A>G p.E3789G missense 0.00000828●●●●●●
2767. 228482102 c.11381C>T p.T3794I missense 0.00000828●●●●●●
2768. 228482111 c.11390T>C p.V3797A missense 0.00000828●●●●●●
2769. 228482557 c.11472G>C p.E3824D missense 0.00000828●●●●●●
2770. 228482604 c.11519T>A p.L3840H missense 0.00000828●●●●●●
2771. 228482632 c.11547G>T p.R3849S missense 0.00000828●●●●●●
2772. 228482639 c.11554G>A p.G3852R missense 0.00000828●●●●●●
2773. 228482679 c.11594C>A p.A3865E missense 0.00000828●●●●●●
2774. 228482690 c.11605G>A p.E3869K missense 0.00000828●●●●●●
2775. 228482718 c.11633G>A p.R3878K missense 0.00000828●●●●●●
2776. 228482744 c.11659G>A p.A3887T missense 0.00000828●●●●●●
2777. 228505674 c.13931A>G p.E4644G missense 0.00000828●●●●●●
2778. 228505715 c.13972A>G p.K4658E missense 0.00000828●●●●●●
2779. 228505728 c.13985G>C p.R4662P missense 0.00000828●●●●●●
2780. 228543869 c.18679A>G p.K6227E missense 0.00000828●●●●●●
2781. 228543870 c.18680A>C p.K6227T missense 0.00000828●●●●●●
2782. 228543885 c.18695C>G p.T6232S missense 0.00000828●●●●●●

* 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.