OBSCN variants in ExAC

OBSCN gene summary
OBSCN variants in

The table below lists the OBSCN 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. 228399671 c.187G>A p.D63N missense 0.01725738●●●●●●
2. 228402121 c.1505A>G p.Q502R missense 0.65386413●●●●●●
3. 228404746 c.2410G>A p.G804S missense 0.00005091●●●●●●
4. 228412228 c.2722G>A p.A908T missense 0.34707232●●●●●●
5. 228431034 c.3080A>G p.K1027R missense 0.00987154●●●●●●
6. 228432047 c.3256G>T p.A1086S missense 0.00364976●●●●●●
7. 228432264 c.3473A>T p.H1158L missense 0.03240679●●●●●●
8. 228444385 c.4343T>C p.V1448A missense 0.00528872●●●●●●
9. 228444565 c.4523T>A p.V1508D missense 1.00000000●●●●●●
10. 228451826 c.4595C>T p.A1532V missense 0.29440789●●●●●●
11. 228451928 c.4697C>T p.T1566M missense 0.00000830●●●●●●
12. 228452032 c.4801G>A p.A1601T missense 0.02620706●●●●●●
13. 228461611 c.5278C>T p.R1760C missense 0.00147981●●●●●●
14. 228461615 c.5282G>A p.R1761H missense 0.00975438●●●●●●
15. 228462332 c.5743G>A p.E1915K missense 0.01318385●●●●●●
16. 228464248 c.6318T>G p.D2106E missense 0.69298515●●●●●●
17. 228464255 c.6325T>C p.W2109R missense 0.00709202●●●●●●
18. 228464267 c.6337G>T p.G2113C missense 0.00157471●●●●●●
19. 228464276 c.6346T>C p.F2116L missense 0.68432646●●●●●●
20. 228464303 c.6373G>T p.A2125S missense 0.02044013●●●●●●
21. 228465000 c.6740C>T p.S2247F missense 0.00369653●●●●●●
22. 228467711 c.7586G>A p.R2529Q missense 0.07466675●●●●●●
23. 228467994 c.7778A>G p.N2593S missense 0.00036576●●●●●●
24. 228468069 c.7853G>A p.S2618N missense 0.01319654●●●●●●
25. 228468099 c.7883G>A p.R2628H missense 0.00002128●●●●●●
26. 228468458 c.8158G>A p.V2720M missense 0.30041062●●●●●●
27. 228469870 c.8434C>T p.R2812W missense 0.04840861●●●●●●
28. 228469873 c.8437G>C p.G2813R missense 0.00040192●●●●●●
29. 228470764 c.8516C>T p.A2839V missense 0.00543117●●●●●●
30. 228475848 c.9898G>A p.A3300T missense 0.29234375●●●●●●
31. 228475954 c.10004C>T p.A3335V missense 0.00899937●●●●●●
32. 228476366 c.10116G>T p.E3372D missense 0.05138297●●●●●●
33. 228476367 c.10117A>T p.S3373C missense 0.05143013●●●●●●
34. 228476484 c.10234G>A p.G3412R missense 0.00239345●●●●●●
35. 228479808 c.10549G>A p.E3517K missense 0.00467800●●●●●●
36. 228480317 c.10697C>T p.P3566L missense 0.00231018●●●●●●
37. 228480319 c.10699G>C p.V3567L missense 0.00156496●●●●●●
38. 228481067 c.10881G>C p.K3627N missense 0.00472266●●●●●●
39. 228481897 c.11176A>C p.T3726P missense 0.01281733●●●●●●
40. 228482059 c.11338G>A p.G3780R missense 0.02124930●●●●●●
41. 228494237 c.11824T>G p.C3942G missense 0.00002569●●●●●●
42. 228494790 c.12115G>A p.G4039R missense 0.40908409●●●●●●
43. 228495226 c.12460G>T p.V4154F missense 0.00053574●●●●●●
44. 228495983 c.12638G>A p.R4213H missense 0.00134602●●●●●●
45. 228496024 c.12679G>A p.A4227T missense 0.00003564●●●●●●
46. 228496066 c.12721G>T p.A4241S missense 0.04025258●●●●●●
47. 228497255 c.13007T>C p.V4336A missense 0.00001660●●●●●●
48. 228503566 c.13031G>A p.R4344Q missense 0.01164866●●●●●●
49. 228503677 c.13142A>G p.H4381R missense 0.70139015●●●●●●
50. 228504472 c.13348T>C p.C4450R missense 0.69486042●●●●●●
51. 228504574 c.13450G>A p.A4484T missense 0.00263691●●●●●●
52. 228504591 c.13467C>A p.H4489Q missense 0.24437234●●●●●●
53. 228504614 c.13490A>T p.Q4497L missense 0.00181294●●●●●●
54. 228504670 c.13546C>T p.R4516W missense 0.42304493●●●●●●
55. 228505204 c.13601G>A p.R4534H missense 0.26191414●●●●●●
56. 228505275 c.13672C>T p.R4558C missense 0.00327190●●●●●●
57. 228505276 c.13673G>A p.R4558H missense 0.00026207●●●●●●
58. 228505668 c.13925C>G p.S4642C missense 0.69402762●●●●●●
59. 228505727 c.13984C>T p.R4662C missense 0.04875381●●●●●●
60. 228505739 c.13996G>A p.G4666S missense 0.18431694●●●●●●
61. 228509279 c.14737G>T p.D4913Y missense 0.00065457●●●●●●
62. 228509427 c.14885A>G p.D4962G missense 0.68624604●●●●●●
63. 228509589 c.15047G>A p.R5016Q missense 0.00981783●●●●●●
64. 228509676 c.15134C>A p.P5045H missense 0.00001926●●●●●●
65. 228509681 c.15139G>T p.D5047Y missense 0.00070870●●●●●●
66. 228509733 c.15191C>T p.A5064V missense 0.00198707●●●●●●
67. 228511128 c.15473G>A p.R5158H missense 0.00007775●●●●●●
68. 228520973 c.15805C>G p.L5269V missense 0.39379347●●●●●●
69. 228520995 c.15827G>A p.R5276H missense 0.00766017●●●●●●
70. 228522931 c.16337C>T p.T5446I missense 0.00099628●●●●●●
71. 228525008 c.16724G>A p.R5575H missense 0.13349813●●●●●●
72. 228526067 c.17078G>T p.R5693M missense 0.00051017●●●●●●
73. 228527749 c.17362C>T p.R5788C missense 0.00305112●●●●●●
74. 228527777 c.17390G>A p.S5797N missense 0.00012157●●●●●●
75. 228528563 c.17671C>G p.Q5891E missense 0.54681826●●●●●●
76. 228548116 c.19523C>A p.T6508K missense 0.01091899●●●●●●
77. 228548197 c.19604G>A p.R6535H missense 0.13112623●●●●●●
78. 228469904 c.8468G>T p.R2823I missense 0.03564751●●●●●●
79. 228404368 c.2342G>A p.R781H missense 0.00345605●●●●●●
80. 228404864 c.2528G>A p.R843H missense 0.00228972●●●●●●
81. 228404947 c.2611C>T p.R871C missense 0.00004216●●●●●●
82. 228412307 c.2801C>T p.S934L missense 0.00002485●●●●●●
83. 228434277 c.3806G>A p.R1269Q missense 0.00042237●●●●●●
84. 228434409 c.3938G>A p.R1313Q missense 0.00009127●●●●●●
85. 228464316 c.6386C>G p.P2129R missense 0.01290535●●●●●●
86. 228467642 c.7517C>T p.T2506M missense 0.00016719●●●●●●
87. 228468357 c.8057T>C p.L2686P missense 0.00000833●●●●●●
88. 228469674 c.8238G>T p.E2746D missense 0.00001666●●●●●●
89. 228469720 c.8284G>A p.E2762K missense 0.00001669●●●●●●
90. 228469801 c.8365G>C p.G2789R missense 0.01507916●●●●●●
91. 228481314 c.11128A>G p.R3710G missense 0.00028096●●●●●●
92. 228481982 c.11261A>G p.D3754G missense 0.00004967●●●●●●
93. 228482068 c.11347T>C p.S3783P missense 0.00099333●●●●●●
94. 228482663 c.11578C>A p.H3860N missense 0.00000828●●●●●●
95. 228496013 c.12668C>T p.T4223M missense 0.00056414●●●●●●
96. 228503592 c.13057G>A p.E4353K missense 0.00037482●●●●●●
97. 228504655 c.13531G>A p.A4511T missense 0.00081481●●●●●●
98. 228506768 c.14315C>T p.P4772L missense 0.00024668●●●●●●
99. 228509321 c.14779G>A p.V4927M missense 0.00037864●●●●●●
100. 228509555 c.15013G>A p.D5005N missense 0.00054233●●●●●●
101. 228511200 c.15545A>G p.H5182R missense 0.00000920●●●●●●
102. 228526578 c.17109T>A p.S5703R missense 0.00845450●●●●●●
103. 228527671 c.17284G>A p.D5762N missense 0.00014940●●●●●●
104. 228529159 c.17878G>A p.D5960N missense 0.00004381●●●●●●
105. 228538568 c.18343C>G p.R6115G missense 0.00249427●●●●●●
106. 228538598 c.18373G>A p.A6125T missense 0.00022187●●●●●●
107. 228538635 c.18410C>T p.P6137L missense 0.00068050●●●●●●
108. 228547494 c.18901C>G p.P6301A missense 0.00068875●●●●●●
109. 228547827 c.19234G>C p.A6412P missense 0.01063683●●●●●●
110. 228548112 c.19519C>T p.P6507S missense 0.00242877●●●●●●
111. 228548255 c.19662G>C p.L6554F missense 0.00072709●●●●●●
112. 228399519 c.35T>A p.F12Y missense 0.00492109●●●●●●
113. 228400400 c.916C>T p.R306C missense 0.00001745●●●●●●
114. 228403428 c.1993C>T p.R665W missense 0.00007689●●●●●●
115. 228404305 c.2279G>A p.R760Q missense 0.01216921●●●●●●
116. 228412195 c.2689C>T p.R897C missense 0.00213938●●●●●●
117. 228430956 c.3002C>T p.T1001M missense 0.00024351●●●●●●
118. 228433171 c.3539C>T p.A1180V missense 0.00081170●●●●●●
119. 228433216 c.3584C>T p.T1195I missense 0.00003312●●●●●●
120. 228434477 c.4006C>T p.R1336W missense 0.00016741●●●●●●
121. 228452016 c.4785G>C p.E1595D missense 0.01367652●●●●●●
122. 228461527 c.5194G>C p.E1732Q missense 0.00012461●●●●●●
123. 228461552 c.5219C>A p.A1740D missense 0.00004860●●●●●●
124. 228461936 c.5474C>T p.T1825M missense 0.00030463●●●●●●
125. 228466929 c.7180G>A p.A2394T missense 0.00020909●●●●●●
126. 228467079 c.7330A>T p.T2444S missense 0.00099521●●●●●●
127. 228468102 c.7886C>T p.A2629V missense 0.00010574●●●●●●
128. 228468437 c.8137G>A p.A2713T missense 0.00100537●●●●●●
129. 228468483 c.8183G>A p.R2728Q missense 0.00026175●●●●●●
130. 228469642 c.8206G>A p.V2736M missense 0.00007700●●●●●●
131. 228469825 c.8389C>T p.R2797W missense 0.00036599●●●●●●
132. 228469861 c.8425T>G p.F2809V missense 0.00130488●●●●●●
133. 228470803 c.8555G>A p.R2852Q missense 0.00152049●●●●●●
134. 228471318 c.8852G>A p.G2951D missense 0.00005010●●●●●●
135. 228471372 c.8906C>A p.T2969N missense 0.00003337●●●●●●
136. 228474485 c.9289G>A p.V3097I missense 0.00001665●●●●●●
137. 228479680 c.10421G>A p.S3474N missense 0.00003315●●●●●●
138. 228481257 c.11071G>A p.A3691T missense 0.00017400●●●●●●
139. 228494976 c.12210C>G p.F4070L missense 0.00000855●●●●●●
140. 228503679 c.13144A>G p.T4382A missense 0.00213348●●●●●●
141. 228504535 c.13411G>A p.A4471T missense 0.00016607●●●●●●
142. 228504586 c.13462C>G p.H4488D missense 0.00815087●●●●●●
143. 228504650 c.13526G>A p.R4509H missense 0.00722439●●●●●●
144. 228506756 c.14303C>T p.S4768L missense 0.00475165●●●●●●
145. 228506761 c.14308C>T p.R4770C missense 0.00159416●●●●●●
146. 228506912 c.14459T>C p.L4820P missense 0.00917219●●●●●●
147. 228509430 c.14888G>A p.R4963H missense 0.00079904●●●●●●
148. 228509610 c.15068C>T p.P5023L missense 0.00189181●●●●●●
149. 228509679 c.15137C>T p.A5046V missense 0.00007769●●●●●●
150. 228509697 c.15155G>A p.R5052H missense 0.00006981●●●●●●
151. 228511220 c.15565G>A p.V5189M missense 0.00009191●●●●●●
152. 228525823 c.16979C>T p.A5660V missense 0.00047072●●●●●●
153. 228528464 c.17572G>A p.A5858T missense 0.00002077●●●●●●
154. 228529892 c.18107G>A p.R6036H missense 0.00008886●●●●●●
155. 228399551 c.67G>A p.V23M missense 0.00029544●●●●●●
156. 228400211 c.727G>C p.G243R missense 0.00105639●●●●●●
157. 228401352 c.1199C>T p.A400V missense 0.00004266●●●●●●
158. 228401940 c.1324G>C p.V442L missense 0.00085127●●●●●●
159. 228403357 c.1922C>T p.A641V missense 0.00007032●●●●●●
160. 228403429 c.1994G>A p.R665Q missense 0.00016555●●●●●●
161. 228403435 c.2000C>T p.T667M missense 0.00006299●●●●●●
162. 228403476 c.2041C>G p.Q681E missense 0.00009790●●●●●●
163. 228404291 c.2265G>C p.Q755H missense 0.00016292●●●●●●
164. 228404292 c.2266G>A p.A756T missense 0.00012993●●●●●●
165. 228404335 c.2309G>A p.R770Q missense 0.00064661●●●●●●
166. 228404377 c.2351G>A p.R784H missense 0.00012546●●●●●●
167. 228404401 c.2375A>G p.Q792R missense 0.00024973●●●●●●
168. 228404818 c.2482G>T p.V828L missense 0.00120781●●●●●●
169. 228412262 c.2756C>T p.T919M missense 0.00012430●●●●●●
170. 228412415 c.2909C>T p.S970F missense 0.00029175●●●●●●
171. 228430962 c.3008G>C p.S1003T missense 0.00037403●●●●●●
172. 228430967 c.3013G>A p.E1005K missense 0.00014050●●●●●●
173. 228430986 c.3032C>T p.T1011M missense 0.00012684●●●●●●
174. 228431063 c.3109C>T p.R1037W missense 0.00011626●●●●●●
175. 228432113 c.3322T>A p.Y1108N missense 0.00014904●●●●●●
176. 228433209 c.3577C>G p.P1193A missense 0.00002484●●●●●●
177. 228433353 c.3721G>A p.G1241R missense 0.00001663●●●●●●
178. 228433376 c.3744A>C p.Q1248H missense 0.00166068●●●●●●
179. 228434276 c.3805C>T p.R1269W missense 0.00014079●●●●●●
180. 228434381 c.3910G>A p.V1304M missense 0.00050512●●●●●●
181. 228434472 c.4001G>A p.G1334D missense 0.00008348●●●●●●
182. 228437667 c.4035G>C p.E1345D missense 0.00002492●●●●●●
183. 228437675 c.4043C>T p.A1348V missense 0.00014945●●●●●●
184. 228437717 c.4085C>T p.A1362V missense 0.00036541●●●●●●
185. 228437749 c.4117G>A p.E1373K missense 0.00124461●●●●●●
186. 228437846 c.4214G>A p.R1405Q missense 0.00084539●●●●●●
187. 228437848 c.4216A>G p.R1406G missense 0.00003315●●●●●●
188. 228437851 c.4219C>G p.L1407V missense 0.00050557●●●●●●
189. 228444477 c.4435G>A p.G1479R missense 0.00004144●●●●●●
190. 228444510 c.4468A>G p.M1490V missense 0.00007460●●●●●●
191. 228444519 c.4477G>T p.V1493L missense 0.00014092●●●●●●
192. 228444562 c.4520C>T p.A1507V missense 0.00012451●●●●●●
193. 228444600 c.4558C>T p.R1520W missense 0.00016645●●●●●●
194. 228456382 c.5013A>C p.K1671N missense 0.00178209●●●●●●
195. 228461504 c.5171G>A p.R1724H missense 0.00093382●●●●●●
196. 228461900 c.5438G>A p.R1813Q missense 0.00054413●●●●●●
197. 228461999 c.5537C>T p.T1846M missense 0.00144344●●●●●●
198. 228462007 c.5545C>T p.R1849W missense 0.00036899●●●●●●
199. 228462495 c.5906C>T p.T1969I missense 0.00003167●●●●●●
200. 228463680 c.6173G>T p.G2058V missense 0.00061046●●●●●●
201. 228464172 c.6242G>A p.R2081Q missense 0.00010795●●●●●●
202. 228464633 c.6490C>G p.L2164V missense 0.00561951●●●●●●
203. 228465516 c.6816T>G p.F2272L missense 0.00101859●●●●●●
204. 228466407 c.6877G>T p.V2293L missense 0.00022762●●●●●●
205. 228466977 c.7228C>T p.P2410S missense 0.00004167●●●●●●
206. 228467064 c.7315C>T p.R2439W missense 0.00018489●●●●●●
207. 228467095 c.7346T>C p.V2449A missense 0.00518855●●●●●●
208. 228467106 c.7357G>A p.V2453I missense 0.00017110●●●●●●
209. 228467130 c.7381C>T p.R2461C missense 0.00077998●●●●●●
210. 228467904 c.7688C>T p.P2563L missense 0.00004187●●●●●●
211. 228467969 c.7753G>C p.D2585H missense 0.00082799●●●●●●
212. 228468242 c.7942G>T p.V2648L missense 0.00003387●●●●●●
213. 228469826 c.8390G>A p.R2797Q missense 0.00073177●●●●●●
214. 228470847 c.8599C>T p.R2867C missense 0.00006120●●●●●●
215. 228471293 c.8827G>A p.A2943T missense 0.00033372●●●●●●
216. 228471294 c.8828C>T p.A2943V missense 0.00078442●●●●●●
217. 228471312 c.8846G>A p.R2949H missense 0.00006680●●●●●●
218. 228471378 c.8912G>A p.R2971Q missense 0.00010007●●●●●●
219. 228473854 c.9080G>A p.R3027Q missense 0.00013225●●●●●●
220. 228473959 c.9185T>G p.V3062G missense 0.00273172●●●●●●
221. 228474548 c.9352G>A p.E3118K missense 0.00002500●●●●●●
222. 228474563 c.9367G>A p.D3123N missense 0.00012554●●●●●●
223. 228474567 c.9371T>C p.I3124T missense 0.00010061●●●●●●
224. 228474615 c.9419G>A p.R3140Q missense 0.00003603●●●●●●
225. 228475506 c.9656A>G p.Y3219C missense 0.00032351●●●●●●
226. 228475581 c.9731G>A p.R3244Q missense 0.00003321●●●●●●
227. 228475604 c.9754G>A p.G3252R missense 0.00014957●●●●●●
228. 228475819 c.9869C>T p.T3290M missense 0.00004972●●●●●●
229. 228476025 c.10075C>A p.P3359T missense 0.00037402●●●●●●
230. 228476389 c.10139C>T p.T3380M missense 0.00011594●●●●●●
231. 228481236 c.11050C>T p.R3684C missense 0.00027331●●●●●●
232. 228482738 c.11653G>A p.V3885I missense 0.00007451●●●●●●
233. 228494097 c.11684C>T p.P3895L missense 0.00053350●●●●●●
234. 228494144 c.11731T>G p.C3911G missense 0.00045890●●●●●●
235. 228494163 c.11750C>T p.T3917I missense 0.00035054●●●●●●
236. 228494216 c.11803C>T p.R3935W missense 0.00151063●●●●●●
237. 228494243 c.11830G>A p.A3944T missense 0.00030771●●●●●●
238. 228494830 c.12155C>T p.T4052M missense 0.00028220●●●●●●
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1046. 228403426 c.1991C>T p.T664I missense 0.00001280●●●●●●
1047. 228403437 c.2002C>A p.L668I missense 0.00002497●●●●●●
1048. 228403446 c.2011C>T p.R671W missense 0.00019643●●●●●●
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1055. 228403474 c.2039C>T p.A680V missense 0.00002200●●●●●●
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1199. 228432173 c.3382A>C p.T1128P missense 0.00010764●●●●●●
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1223. 228433270 c.3638G>T p.R1213L missense 0.00000828●●●●●●
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1226. 228433277 c.3645G>C p.E1215D missense 0.00002484●●●●●●
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1256. 228434352 c.3881A>T p.D1294V missense 0.00000828●●●●●●
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1258. 228434370 c.3899C>T p.S1300F missense 0.00000828●●●●●●
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1262. 228434397 c.3926C>T p.A1309V missense 0.00015759●●●●●●
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1267. 228434420 c.3949G>T p.V1317L missense 0.00001657●●●●●●
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1271. 228434489 c.4018C>T p.H1340Y missense 0.00008431●●●●●●
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1283. 228437773 c.4141G>A p.V1381M missense 0.00000829●●●●●●
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1287. 228437813 c.4181C>T p.S1394L missense 0.00004142●●●●●●
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1291. 228437866 c.4234G>A p.A1412T missense 0.00000829●●●●●●
1292. 228437866 c.4234G>T p.A1412S missense 0.00000829●●●●●●
1293. 228437875 c.4243G>A p.A1415T missense 0.00000829●●●●●●
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1299. 228437927 c.4295G>T p.S1432I missense 0.00000834●●●●●●
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1301. 228444364 c.4322T>C p.V1441A missense 0.00000829●●●●●●
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1303. 228444407 c.4365G>T p.Q1455H missense 0.00000831●●●●●●
1304. 228444426 c.4384C>T p.L1462F missense 0.00000830●●●●●●
1305. 228444433 c.4391G>T p.C1464F missense 0.00000830●●●●●●
1306. 228444433 c.4391G>A p.C1464Y missense 0.00000830●●●●●●
1307. 228444435 c.4393G>A p.E1465K missense 0.00001660●●●●●●
1308. 228444453 c.4411A>C p.T1471P missense 0.00000829●●●●●●
1309. 228444454 c.4412C>T p.T1471M missense 0.00009951●●●●●●
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1313. 228444498 c.4456T>C p.S1486P missense 0.00000829●●●●●●
1314. 228444499 c.4457C>T p.S1486L missense 0.00003315●●●●●●
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1316. 228444507 c.4465C>T p.R1489C missense 0.00000829●●●●●●
1317. 228444510 c.4468A>T p.M1490L missense 0.00000829●●●●●●
1318. 228444532 c.4490G>A p.R1497Q missense 0.00002487●●●●●●
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1320. 228444553 c.4511C>T p.A1504V missense 0.00001661●●●●●●
1321. 228444573 c.4531G>A p.E1511K missense 0.00001661●●●●●●
1322. 228444612 c.4570C>A p.H1524N missense 0.00000835●●●●●●
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1326. 228444621 c.4579G>T p.V1527L missense 0.00000838●●●●●●
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1328. 228451850 c.4619C>T p.A1540V missense 0.00001660●●●●●●
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1330. 228451861 c.4630G>A p.V1544M missense 0.00000830●●●●●●
1331. 228451874 c.4643C>T p.A1548V missense 0.00005818●●●●●●
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1333. 228451889 c.4658C>T p.T1553M missense 0.00001662●●●●●●
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1335. 228451933 c.4702T>C p.Y1568H missense 0.00000829●●●●●●
1336. 228451938 c.4707G>T p.K1569N missense 0.00006634●●●●●●
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1338. 228451973 c.4742G>A p.R1581Q missense 0.00000830●●●●●●
1339. 228451984 c.4753G>A p.V1585M missense 0.00004151●●●●●●
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1341. 228451990 c.4759T>C p.C1587R missense 0.00004982●●●●●●
1342. 228451994 c.4763C>T p.T1588I missense 0.00000831●●●●●●
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1346. 228452056 c.4825G>A p.G1609R missense 0.00002509●●●●●●
1347. 228452065 c.4834C>T p.R1612W missense 0.00001677●●●●●●
1348. 228452066 c.4835G>A p.R1612Q missense 0.00010066●●●●●●
1349. 228452077 c.4846C>T p.H1616Y missense 0.00000843●●●●●●
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1351. 228456249 c.4880C>T p.A1627V missense 0.00000842●●●●●●
1352. 228456260 c.4891C>T p.P1631S missense 0.00000840●●●●●●
1353. 228456276 c.4907T>G p.V1636G missense 0.00000839●●●●●●
1354. 228456278 c.4909C>A p.Q1637K missense 0.00000839●●●●●●
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1356. 228456288 c.4919C>T p.A1640V missense 0.00002561●●●●●●
1357. 228456290 c.4921G>C p.G1641R missense 0.00000842●●●●●●
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1400. 228461716 c.5383G>A p.A1795T missense 0.00002761●●●●●●
1401. 228461722 c.5389G>T p.G1797W missense 0.00000914●●●●●●
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1408. 228461955 c.5493G>C p.E1831D missense 0.00000844●●●●●●
1409. 228461968 c.5506T>C p.C1836R missense 0.00000842●●●●●●
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1411. 228461972 c.5510C>T p.A1837V missense 0.00005052●●●●●●
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1421. 228462061 c.5599G>C p.V1867L missense 0.00000838●●●●●●
1422. 228462073 c.5611C>T p.R1871C missense 0.00000839●●●●●●
1423. 228462085 c.5623G>A p.A1875T missense 0.00002520●●●●●●
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1425. 228462098 c.5636T>C p.V1879A missense 0.00000842●●●●●●
1426. 228462109 c.5647C>T p.R1883C missense 0.00013512●●●●●●
1427. 228462110 c.5648G>C p.R1883P missense 0.00001690●●●●●●
1428. 228462110 c.5648G>A p.R1883H missense 0.00002534●●●●●●
1429. 228462114 c.5652T>A p.D1884E missense 0.00000846●●●●●●
1430. 228462117 c.5655C>A p.D1885E missense 0.00007635●●●●●●
1431. 228462128 c.5666C>T p.A1889V missense 0.00000861●●●●●●
1432. 228462279 c.5690G>A p.R1897Q missense 0.00001226●●●●●●
1433. 228462287 c.5698A>G p.K1900E missense 0.00002351●●●●●●
1434. 228462297 c.5708C>A p.S1903Y missense 0.00001151●●●●●●
1435. 228462308 c.5719A>T p.T1907S missense 0.00001110●●●●●●
1436. 228462311 c.5722G>A p.V1908M missense 0.00003292●●●●●●
1437. 228462343 c.5754C>A p.F1918L missense 0.00007042●●●●●●
1438. 228462357 c.5768C>T p.S1923F missense 0.00001967●●●●●●
1439. 228462368 c.5779G>A p.V1927M missense 0.00000972●●●●●●
1440. 228462386 c.5797C>T p.R1933W missense 0.00000973●●●●●●
1441. 228462413 c.5824G>A p.E1942K missense 0.00000983●●●●●●
1442. 228462421 c.5832T>G p.F1944L missense 0.00000988●●●●●●
1443. 228462468 c.5879T>C p.L1960P missense 0.00001011●●●●●●
1444. 228462482 c.5893G>A p.A1965T missense 0.00006194●●●●●●
1445. 228462483 c.5894C>T p.A1965V missense 0.00012436●●●●●●
1446. 228462494 c.5905A>G p.T1969A missense 0.00002108●●●●●●
1447. 228462497 c.5908G>A p.V1970M missense 0.00007443●●●●●●
1448. 228462509 c.5920G>A p.G1974S missense 0.00003281●●●●●●
1449. 228462512 c.5923G>A p.A1975T missense 0.00001107●●●●●●
1450. 228462513 c.5924C>T p.A1975V missense 0.00002218●●●●●●
1451. 228462515 c.5926T>C p.S1976P missense 0.00002236●●●●●●
1452. 228462521 c.5932T>C p.S1978P missense 0.00002285●●●●●●
1453. 228462536 c.5947G>T p.V1983F missense 0.00001216●●●●●●
1454. 228462540 c.5951G>A p.R1984Q missense 0.00004972●●●●●●
1455. 228463487 c.5980C>G p.L1994V missense 0.00004542●●●●●●
1456. 228463490 c.5983G>A p.E1995K missense 0.00008420●●●●●●
1457. 228463518 c.6011C>T p.S2004L missense 0.00002037●●●●●●
1458. 228463527 c.6020T>A p.L2007Q missense 0.00001676●●●●●●
1459. 228463529 c.6022G>C p.E2008Q missense 0.00001616●●●●●●
1460. 228463533 c.6026T>G p.V2009G missense 0.00003079●●●●●●
1461. 228463535 c.6028G>A p.E2010K missense 0.00008945●●●●●●
1462. 228463539 c.6032T>C p.L2011P missense 0.00001417●●●●●●
1463. 228463542 c.6035C>T p.T2012M missense 0.00001361●●●●●●
1464. 228463544 c.6037C>T p.R2013W missense 0.00001330●●●●●●
1465. 228463578 c.6071C>T p.A2024V missense 0.00044684●●●●●●
1466. 228463596 c.6089G>A p.G2030E missense 0.00001946●●●●●●
1467. 228463598 c.6091A>C p.K2031Q missense 0.00000970●●●●●●
1468. 228463622 c.6115G>A p.G2039S missense 0.00004948●●●●●●
1469. 228463628 c.6121C>A p.R2041S missense 0.00003992●●●●●●
1470. 228463643 c.6136C>G p.L2046V missense 0.00003124●●●●●●
1471. 228463659 c.6152T>G p.F2051C missense 0.00001256●●●●●●
1472. 228463662 c.6155C>T p.A2052V missense 0.00005363●●●●●●
1473. 228463664 c.6157G>A p.D2053N missense 0.00001355●●●●●●
1474. 228463667 c.6160C>G p.R2054G missense 0.00001417●●●●●●
1475. 228463674 c.6167T>G p.F2056C missense 0.00001606●●●●●●
1476. 228463676 c.6169T>C p.F2057L missense 0.00005004●●●●●●
1477. 228463677 c.6170T>C p.F2057S missense 0.00003369●●●●●●
1478. 228463691 c.6184C>T p.P2062S missense 0.00002340●●●●●●
1479. 228463700 c.6193A>G p.K2065E missense 0.00002775●●●●●●
1480. 228463725 c.6218A>C p.E2073A missense 0.00004280●●●●●●
1481. 228464153 c.6223C>T p.R2075C missense 0.00001774●●●●●●
1482. 228464159 c.6229G>C p.V2077L missense 0.00001803●●●●●●
1483. 228464162 c.6232C>T p.R2078W missense 0.00000898●●●●●●
1484. 228464184 c.6254C>T p.A2085V missense 0.00000885●●●●●●
1485. 228464196 c.6266G>A p.R2089Q missense 0.00002622●●●●●●
1486. 228464198 c.6268G>C p.E2090Q missense 0.00000872●●●●●●
1487. 228464208 c.6278C>G p.T2093R missense 0.00000868●●●●●●
1488. 228464213 c.6283A>T p.T2095S missense 0.00000865●●●●●●
1489. 228464216 c.6286A>G p.M2096V missense 0.00000864●●●●●●
1490. 228464217 c.6287T>C p.M2096T missense 0.00000864●●●●●●
1491. 228464219 c.6289G>A p.E2097K missense 0.00000863●●●●●●
1492. 228464232 c.6302C>T p.S2101L missense 0.00010331●●●●●●
1493. 228464235 c.6305A>C p.H2102P missense 0.00001720●●●●●●
1494. 228464238 c.6308C>T p.A2103V missense 0.00005166●●●●●●
1495. 228464243 c.6313G>C p.V2105L missense 0.00002580●●●●●●
1496. 228464246 c.6316G>A p.D2106N missense 0.00000860●●●●●●
1497. 228464268 c.6338G>A p.G2113D missense 0.00000860●●●●●●
1498. 228464271 c.6341T>C p.L2114P missense 0.00000861●●●●●●
1499. 228464273 c.6343C>T p.R2115W missense 0.00001727●●●●●●
1500. 228464281 c.6351G>T p.Q2117H missense 0.00001820●●●●●●
1501. 228464295 c.6365G>T p.C2122F missense 0.00001880●●●●●●
1502. 228464306 c.6376G>C p.V2126L missense 0.00002943●●●●●●
1503. 228464315 c.6385C>T p.P2129S missense 0.00003082●●●●●●
1504. 228464318 c.6388A>G p.M2130V missense 0.00001036●●●●●●
1505. 228464320 c.6390G>A p.M2130I missense 0.00001047●●●●●●
1506. 228464337 c.6407C>G p.S2136W missense 0.00001220●●●●●●
1507. 228464346 c.6416G>A p.R2139Q missense 0.00001325●●●●●●
1508. 228464351 c.6421G>A p.E2141K missense 0.00001404●●●●●●
1509. 228464355 c.6425A>C p.D2142A missense 0.00001437●●●●●●
1510. 228464355 c.6425A>T p.D2142V missense 0.00001437●●●●●●
1511. 228464367 c.6437T>C p.M2146T missense 0.00001595●●●●●●
1512. 228464370 c.6440T>C p.V2147A missense 0.00001648●●●●●●
1513. 228464402 c.6472C>T p.R2158W missense 0.00002853●●●●●●
1514. 228464403 c.6473G>A p.R2158Q missense 0.00002876●●●●●●
1515. 228464639 c.6496G>T p.V2166L missense 0.00003214●●●●●●
1516. 228464639 c.6496G>A p.V2166M missense 0.00003214●●●●●●
1517. 228464642 c.6499A>T p.S2167C missense 0.00003123●●●●●●
1518. 228464654 c.6511C>T p.P2171S missense 0.00005601●●●●●●
1519. 228464673 c.6530C>T p.T2177I missense 0.00002453●●●●●●
1520. 228464712 c.6569C>T p.S2190L missense 0.00007307●●●●●●
1521. 228464715 c.6572G>A p.R2191H missense 0.00017237●●●●●●
1522. 228464864 c.6604G>A p.G2202S missense 0.00002378●●●●●●
1523. 228464912 c.6652G>C p.A2218P missense 0.00001509●●●●●●
1524. 228464912 c.6652G>A p.A2218T missense 0.00001509●●●●●●
1525. 228464936 c.6676C>T p.R2226W missense 0.00002143●●●●●●
1526. 228464937 c.6677G>C p.R2226P missense 0.00002103●●●●●●
1527. 228464942 c.6682G>A p.E2228K missense 0.00001000●●●●●●
1528. 228464948 c.6688G>A p.A2230T missense 0.00000961●●●●●●
1529. 228464949 c.6689C>T p.A2230V missense 0.00001910●●●●●●
1530. 228464949 c.6689C>G p.A2230G missense 0.00000955●●●●●●
1531. 228464961 c.6701T>A p.V2234E missense 0.00000915●●●●●●
1532. 228464964 c.6704A>G p.Y2235C missense 0.00000910●●●●●●
1533. 228464970 c.6710G>A p.C2237Y missense 0.00000903●●●●●●
1534. 228464976 c.6716C>T p.A2239V missense 0.00000902●●●●●●
1535. 228464979 c.6719A>G p.H2240R missense 0.00000898●●●●●●
1536. 228464997 c.6737C>A p.A2246D missense 0.00000896●●●●●●
1537. 228465002 c.6742G>A p.V2248M missense 0.00002695●●●●●●
1538. 228465002 c.6742G>C p.V2248L missense 0.00000898●●●●●●
1539. 228465455 c.6755G>C p.G2252A missense 0.00000839●●●●●●
1540. 228465459 c.6759G>T p.R2253S missense 0.00000838●●●●●●
1541. 228465461 c.6761C>G p.T2254R missense 0.00000837●●●●●●
1542. 228465466 c.6766A>G p.T2256A missense 0.00000837●●●●●●
1543. 228465469 c.6769C>T p.L2257F missense 0.00000836●●●●●●
1544. 228465476 c.6776A>G p.Y2259C missense 0.00008358●●●●●●
1545. 228465479 c.6779G>A p.R2260Q missense 0.00002507●●●●●●
1546. 228465479 c.6779G>C p.R2260P missense 0.00000836●●●●●●
1547. 228465500 c.6800C>A p.A2267E missense 0.00009182●●●●●●
1548. 228465503 c.6803G>C p.G2268A missense 0.00000835●●●●●●
1549. 228465515 c.6815T>C p.F2272S missense 0.00000835●●●●●●
1550. 228465536 c.6836C>G p.S2279W missense 0.00000838●●●●●●
1551. 228465538 c.6838C>G p.R2280G missense 0.00001677●●●●●●
1552. 228465542 c.6842C>T p.A2281V missense 0.00001680●●●●●●
1553. 228466402 c.6872C>T p.T2291I missense 0.00000850●●●●●●
1554. 228466404 c.6874C>T p.L2292F missense 0.00000847●●●●●●
1555. 228466407 c.6877G>A p.V2293M missense 0.00002529●●●●●●
1556. 228466410 c.6880C>T p.R2294C missense 0.00000842●●●●●●
1557. 228466410 c.6880C>G p.R2294G missense 0.00001683●●●●●●
1558. 228466419 c.6889C>T p.R2297W missense 0.00002508●●●●●●
1559. 228466420 c.6890G>A p.R2297Q missense 0.00002507●●●●●●
1560. 228466428 c.6898A>T p.I2300F missense 0.00000834●●●●●●
1561. 228466438 c.6908A>G p.E2303G missense 0.00001667●●●●●●
1562. 228466446 c.6916C>A p.R2306S missense 0.00000833●●●●●●
1563. 228466447 c.6917G>A p.R2306H missense 0.00000833●●●●●●
1564. 228466449 c.6919G>A p.G2307S missense 0.00001667●●●●●●
1565. 228466452 c.6922G>A p.V2308M missense 0.00000833●●●●●●
1566. 228466482 c.6952G>A p.A2318T missense 0.00000834●●●●●●
1567. 228466483 c.6953C>T p.A2318V missense 0.00000834●●●●●●
1568. 228466527 c.6997C>T p.P2333S missense 0.00000833●●●●●●
1569. 228466542 c.7012G>A p.V2338I missense 0.00000833●●●●●●
1570. 228466545 c.7015A>G p.S2339G missense 0.00000833●●●●●●
1571. 228466546 c.7016G>T p.S2339I missense 0.00000833●●●●●●
1572. 228466561 c.7031G>A p.R2344H missense 0.00000833●●●●●●
1573. 228466561 c.7031G>T p.R2344L missense 0.00000833●●●●●●
1574. 228466576 c.7046G>A p.S2349N missense 0.00000831●●●●●●
1575. 228466587 c.7057G>A p.A2353T missense 0.00000831●●●●●●
1576. 228466593 c.7063G>A p.D2355N missense 0.00000831●●●●●●
1577. 228466596 c.7066G>A p.E2356K missense 0.00001662●●●●●●
1578. 228466603 c.7073C>T p.T2358I missense 0.00000831●●●●●●
1579. 228466617 c.7087G>A p.A2363T missense 0.00000831●●●●●●
1580. 228466620 c.7090G>A p.G2364S missense 0.00004985●●●●●●
1581. 228466633 c.7103C>T p.T2368I missense 0.00000831●●●●●●
1582. 228466878 c.7129C>G p.Q2377E missense 0.00002562●●●●●●
1583. 228466888 c.7139C>G p.T2380S missense 0.00000849●●●●●●
1584. 228466897 c.7148G>A p.R2383Q missense 0.00003378●●●●●●
1585. 228466906 c.7157A>G p.Q2386R missense 0.00000841●●●●●●
1586. 228466926 c.7177C>T p.P2393S missense 0.00000837●●●●●●
1587. 228466927 c.7178C>G p.P2393R missense 0.00001674●●●●●●
1588. 228466932 c.7183C>T p.P2395S missense 0.00003343●●●●●●
1589. 228466971 c.7222C>T p.R2408W missense 0.00000834●●●●●●
1590. 228466972 c.7223G>A p.R2408Q missense 0.00000833●●●●●●
1591. 228467001 c.7252G>A p.V2418M missense 0.00000833●●●●●●
1592. 228467013 c.7264G>C p.G2422R missense 0.00000835●●●●●●
1593. 228467014 c.7265G>A p.G2422E missense 0.00003336●●●●●●
1594. 228467014 c.7265G>C p.G2422A missense 0.00005839●●●●●●
1595. 228467014 c.7265G>T p.G2422V missense 0.00003336●●●●●●
1596. 228467020 c.7271A>T p.N2424I missense 0.00000834●●●●●●
1597. 228467032 c.7283A>G p.E2428G missense 0.00000835●●●●●●
1598. 228467044 c.7295C>T p.T2432M missense 0.00000837●●●●●●
1599. 228467052 c.7303C>T p.R2435W missense 0.00002512●●●●●●
1600. 228467053 c.7304G>A p.R2435Q missense 0.00002514●●●●●●
1601. 228467077 c.7328C>G p.S2443C missense 0.00000843●●●●●●
1602. 228467085 c.7336A>T p.T2446S missense 0.00000845●●●●●●
1603. 228467091 c.7342C>A p.P2448T missense 0.00000846●●●●●●
1604. 228467094 c.7345G>A p.V2449M missense 0.00000848●●●●●●
1605. 228467116 c.7367C>T p.S2456L missense 0.00000867●●●●●●
1606. 228467118 c.7369C>T p.R2457C missense 0.00000871●●●●●●
1607. 228467119 c.7370G>A p.R2457H missense 0.00013075●●●●●●
1608. 228467122 c.7373C>T p.S2458F missense 0.00000879●●●●●●
1609. 228467131 c.7382G>A p.R2461H missense 0.00002665●●●●●●
1610. 228467524 c.7399A>G p.I2467V missense 0.00003473●●●●●●
1611. 228467530 c.7405G>A p.V2469I missense 0.00003440●●●●●●
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1613. 228467540 c.7415C>G p.T2472R missense 0.00003509●●●●●●
1614. 228467542 c.7417C>G p.R2473G missense 0.00001765●●●●●●
1615. 228467546 c.7421C>T p.P2474L missense 0.00008917●●●●●●
1616. 228467611 c.7486C>T p.P2496S missense 0.00007299●●●●●●
1617. 228467617 c.7492G>T p.A2498S missense 0.00004880●●●●●●
1618. 228467644 c.7519C>T p.P2507S missense 0.00002379●●●●●●
1619. 228467647 c.7522C>G p.L2508V missense 0.00002377●●●●●●
1620. 228467650 c.7525T>C p.S2509P missense 0.00002347●●●●●●
1621. 228467653 c.7528C>G p.P2510A missense 0.00002334●●●●●●
1622. 228467654 c.7529C>T p.P2510L missense 0.00004660●●●●●●
1623. 228467657 c.7532C>T p.S2511F missense 0.00002315●●●●●●
1624. 228467662 c.7537A>G p.K2513E missense 0.00002289●●●●●●
1625. 228467689 c.7564A>T p.M2522L missense 0.00002055●●●●●●
1626. 228467698 c.7573C>G p.L2525V missense 0.00001957●●●●●●
1627. 228467701 c.7576C>T p.R2526C missense 0.00003835●●●●●●
1628. 228467702 c.7577G>C p.R2526P missense 0.00026457●●●●●●
1629. 228467707 c.7582C>T p.L2528F missense 0.00001780●●●●●●
1630. 228467710 c.7585C>T p.R2529W missense 0.00003484●●●●●●
1631. 228467722 c.7597G>A p.A2533T missense 0.00001418●●●●●●
1632. 228467732 c.7607G>T p.G2536V missense 0.00001299●●●●●●
1633. 228467734 c.7609G>T p.V2537F missense 0.00001278●●●●●●
1634. 228467740 c.7615C>T p.R2539W missense 0.00002428●●●●●●
1635. 228467756 c.7631G>T p.S2544I missense 0.00001021●●●●●●
1636. 228467756 c.7631G>A p.S2544N missense 0.00001021●●●●●●
1637. 228467765 c.7640G>T p.S2547I missense 0.00002876●●●●●●
1638. 228467880 c.7664C>T p.A2555V missense 0.00002515●●●●●●
1639. 228467883 c.7667G>T p.R2556L missense 0.00001676●●●●●●
1640. 228467900 c.7684G>C p.G2562R missense 0.00000837●●●●●●
1641. 228467912 c.7696G>T p.D2566Y missense 0.00002513●●●●●●
1642. 228467916 c.7700C>T p.A2567V missense 0.00000838●●●●●●
1643. 228467921 c.7705G>A p.A2569T missense 0.00002516●●●●●●
1644. 228467925 c.7709C>T p.T2570M missense 0.00002518●●●●●●
1645. 228467927 c.7711G>A p.E2571K missense 0.00000840●●●●●●
1646. 228467928 c.7712A>G p.E2571G missense 0.00000840●●●●●●
1647. 228467945 c.7729T>G p.F2577V missense 0.00001689●●●●●●
1648. 228467966 c.7750G>A p.E2584K missense 0.00000881●●●●●●
1649. 228467969 c.7753G>A p.D2585N missense 0.00000881●●●●●●
1650. 228467978 c.7762G>A p.V2588I missense 0.00000942●●●●●●
1651. 228468001 c.7785G>A p.M2595I missense 0.00001095●●●●●●
1652. 228468014 c.7798G>A p.D2600N missense 0.00001235●●●●●●
1653. 228468030 c.7814T>G p.I2605S missense 0.00001366●●●●●●
1654. 228468037 c.7821C>A p.H2607Q missense 0.00001516●●●●●●
1655. 228468042 c.7826G>C p.G2609A missense 0.00001558●●●●●●
1656. 228468054 c.7838C>T p.T2613M missense 0.00001754●●●●●●
1657. 228468078 c.7862G>T p.R2621L missense 0.00002071●●●●●●
1658. 228468087 c.7871C>A p.A2624E missense 0.00002108●●●●●●
1659. 228468093 c.7877T>A p.I2626K missense 0.00002116●●●●●●
1660. 228468132 c.7916G>A p.R2639H missense 0.00001914●●●●●●
1661. 228468255 c.7955C>T p.A2652V missense 0.00000838●●●●●●
1662. 228468260 c.7960G>A p.D2654N missense 0.00000836●●●●●●
1663. 228468272 c.7972G>A p.A2658T missense 0.00000834●●●●●●
1664. 228468281 c.7981C>T p.R2661C missense 0.00002497●●●●●●
1665. 228468282 c.7982G>A p.R2661H missense 0.00005826●●●●●●
1666. 228468285 c.7985G>A p.G2662D missense 0.00001664●●●●●●
1667. 228468294 c.7994C>A p.A2665D missense 0.00000831●●●●●●
1668. 228468307 c.8007A>T p.E2669D missense 0.00005817●●●●●●
1669. 228468317 c.8017C>A p.P2673T missense 0.00000831●●●●●●
1670. 228468320 c.8020G>A p.E2674K missense 0.00001662●●●●●●
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1730. 228470788 c.8540G>A p.R2847H missense 0.00008445●●●●●●
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1732. 228470812 c.8564C>T p.T2855M missense 0.00002991●●●●●●
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1906. 228476520 c.10270G>A p.V3424M missense 0.00000828●●●●●●
1907. 228476527 c.10277A>G p.D3426G missense 0.00000828●●●●●●
1908. 228476535 c.10285G>A p.E3429K missense 0.00000828●●●●●●
1909. 228476548 c.10298T>G p.V3433G missense 0.00000828●●●●●●
1910. 228476552 c.10302T>G p.C3434W missense 0.00003312●●●●●●
1911. 228476553 c.10303G>C p.G3435R missense 0.00000828●●●●●●
1912. 228476577 c.10327C>G p.L3443V missense 0.00000828●●●●●●
1913. 228476583 c.10333G>A p.V3445M missense 0.00000828●●●●●●
1914. 228476587 c.10337A>G p.K3446R missense 0.00000828●●●●●●
1915. 228479623 c.10364G>T p.G3455V missense 0.00000838●●●●●●
1916. 228479628 c.10369A>G p.R3457G missense 0.00000836●●●●●●
1917. 228479629 c.10370G>A p.R3457K missense 0.00000836●●●●●●
1918. 228479662 c.10403T>C p.M3468T missense 0.00000829●●●●●●
1919. 228479676 c.10417C>G p.L3473V missense 0.00003316●●●●●●
1920. 228479677 c.10418T>C p.L3473P missense 0.00000829●●●●●●
1921. 228479681 c.10422C>A p.S3474R missense 0.00001658●●●●●●
1922. 228479688 c.10429G>T p.A3477S missense 0.00000829●●●●●●
1923. 228479706 c.10447A>G p.K3483E missense 0.00002486●●●●●●
1924. 228479707 c.10448A>C p.K3483T missense 0.00000829●●●●●●
1925. 228479740 c.10481A>G p.Y3494C missense 0.00003313●●●●●●
1926. 228479749 c.10490G>A p.R3497K missense 0.00001656●●●●●●
1927. 228479805 c.10546G>A p.G3516R missense 0.00027322●●●●●●
1928. 228479818 c.10559G>A p.C3520Y missense 0.00000828●●●●●●
1929. 228479839 c.10580C>A p.T3527N missense 0.00000828●●●●●●
1930. 228479842 c.10583C>T p.S3528L missense 0.00000828●●●●●●
1931. 228479848 c.10589C>T p.T3530M missense 0.00017386●●●●●●
1932. 228479858 c.10599C>G p.I3533M missense 0.00001656●●●●●●
1933. 228480239 c.10619T>G p.F3540C missense 0.00001660●●●●●●
1934. 228480241 c.10621A>G p.I3541V missense 0.00000830●●●●●●
1935. 228480245 c.10625A>C p.E3542A missense 0.00001659●●●●●●
1936. 228480250 c.10630G>T p.V3544L missense 0.00000829●●●●●●
1937. 228480256 c.10636A>C p.N3546H missense 0.00000829●●●●●●
1938. 228480281 c.10661C>T p.T3554I missense 0.00000828●●●●●●
1939. 228480286 c.10666G>T p.V3556L missense 0.00000828●●●●●●
1940. 228480286 c.10666G>C p.V3556L missense 0.00001656●●●●●●
1941. 228480307 c.10687A>C p.S3563R missense 0.00000828●●●●●●
1942. 228480322 c.10702G>A p.E3568K missense 0.00000828●●●●●●
1943. 228480325 c.10705T>C p.W3569R missense 0.00004968●●●●●●
1944. 228480332 c.10712A>G p.K3571R missense 0.00001656●●●●●●
1945. 228480333 c.10713G>C p.K3571N missense 0.00000828●●●●●●
1946. 228480335 c.10715G>T p.G3572V missense 0.00004140●●●●●●
1947. 228480374 c.10754G>A p.R3585K missense 0.00001656●●●●●●
1948. 228480382 c.10762G>A p.G3588R missense 0.00006624●●●●●●
1949. 228480392 c.10772G>A p.C3591Y missense 0.00000828●●●●●●
1950. 228480406 c.10786C>T p.R3596C missense 0.00000828●●●●●●
1951. 228480416 c.10796C>T p.A3599V missense 0.00000828●●●●●●
1952. 228480424 c.10804G>A p.D3602N missense 0.00000828●●●●●●
1953. 228480427 c.10807A>G p.T3603A missense 0.00000828●●●●●●
1954. 228480440 c.10820C>T p.S3607L missense 0.00004140●●●●●●
1955. 228480443 c.10823G>T p.C3608F missense 0.00000828●●●●●●
1956. 228480451 c.10831G>A p.G3611R missense 0.00000828●●●●●●
1957. 228480457 c.10837G>A p.E3613K missense 0.00000828●●●●●●
1958. 228480467 c.10847C>T p.S3616L missense 0.00006624●●●●●●
1959. 228480470 c.10850C>G p.A3617G missense 0.00004968●●●●●●
1960. 228480472 c.10852A>G p.M3618V missense 0.00000828●●●●●●
1961. 228480473 c.10853T>C p.M3618T missense 0.00000828●●●●●●
1962. 228480481 c.10861G>C p.V3621L missense 0.00001656●●●●●●
1963. 228480482 c.10862T>G p.V3621G missense 0.00000828●●●●●●
1964. 228481060 c.10874C>G p.P3625R missense 0.00000839●●●●●●
1965. 228481062 c.10876A>G p.I3626V missense 0.00000838●●●●●●
1966. 228481078 c.10892G>T p.G3631V missense 0.00001666●●●●●●
1967. 228481084 c.10898G>A p.R3633K missense 0.00034110●●●●●●
1968. 228481089 c.10903G>A p.E3635K missense 0.00000831●●●●●●
1969. 228481095 c.10909G>A p.A3637T missense 0.00000830●●●●●●
1970. 228481105 c.10919G>A p.G3640E missense 0.00000829●●●●●●
1971. 228481111 c.10925C>T p.T3642I missense 0.00000829●●●●●●
1972. 228481123 c.10937G>T p.R3646L missense 0.00000829●●●●●●
1973. 228481135 c.10949G>A p.S3650N missense 0.00000829●●●●●●
1974. 228481136 c.10950C>A p.S3650R missense 0.00008286●●●●●●
1975. 228481141 c.10955T>C p.M3652T missense 0.00000829●●●●●●
1976. 228481146 c.10960C>T p.P3654S missense 0.00002486●●●●●●
1977. 228481201 c.11015T>A p.L3672Q missense 0.00000828●●●●●●
1978. 228481206 c.11020C>A p.Q3674K missense 0.00000828●●●●●●
1979. 228481209 c.11023G>A p.D3675N missense 0.00001656●●●●●●
1980. 228481212 c.11026G>A p.G3676R missense 0.00004141●●●●●●
1981. 228481218 c.11032A>G p.R3678G missense 0.00000828●●●●●●
1982. 228481236 c.11050C>A p.R3684S missense 0.00000828●●●●●●
1983. 228481242 c.11056C>T p.L3686F missense 0.00001656●●●●●●
1984. 228481245 c.11059G>A p.V3687M missense 0.00004970●●●●●●
1985. 228481258 c.11072C>T p.A3691V missense 0.00001657●●●●●●
1986. 228481275 c.11089A>G p.M3697V missense 0.00000830●●●●●●
1987. 228481293 c.11107A>G p.T3703A missense 0.00000836●●●●●●
1988. 228481299 c.11113G>T p.A3705S missense 0.00001679●●●●●●
1989. 228481303 c.11117T>C p.M3706T missense 0.00000842●●●●●●
1990. 228481306 c.11120T>G p.L3707R missense 0.00000844●●●●●●
1991. 228481315 c.11129G>C p.R3710T missense 0.00003406●●●●●●
1992. 228481855 c.11134A>G p.M3712V missense 0.00000828●●●●●●
1993. 228481858 c.11137C>T p.P3713S missense 0.00000828●●●●●●
1994. 228481870 c.11149A>G p.I3717V missense 0.00000828●●●●●●
1995. 228481888 c.11167G>A p.E3723K missense 0.00000828●●●●●●
1996. 228481912 c.11191G>A p.A3731T missense 0.00000828●●●●●●
1997. 228481915 c.11194A>G p.T3732A missense 0.00000828●●●●●●
1998. 228481916 c.11195C>T p.T3732M missense 0.00002484●●●●●●
1999. 228481916 c.11195C>A p.T3732K missense 0.00000828●●●●●●
2000. 228481918 c.11197C>G p.L3733V missense 0.00000828●●●●●●
2001. 228481921 c.11200T>C p.W3734R missense 0.00000828●●●●●●
2002. 228481925 c.11204G>A p.C3735Y missense 0.00002484●●●●●●
2003. 228481929 c.11208G>T p.E3736D missense 0.00001656●●●●●●
2004. 228481946 c.11225C>T p.P3742L missense 0.00003312●●●●●●
2005. 228481967 c.11246A>G p.H3749R missense 0.00000828●●●●●●
2006. 228481989 c.11268C>G p.D3756E missense 0.00010762●●●●●●
2007. 228481991 c.11270G>C p.R3757T missense 0.00000828●●●●●●
2008. 228481992 c.11271A>T p.R3757S missense 0.00000828●●●●●●
2009. 228481997 c.11276G>T p.S3759I missense 0.00000828●●●●●●
2010. 228482031 c.11310G>C p.Q3770H missense 0.00000828●●●●●●
2011. 228482044 c.11323G>A p.A3775T missense 0.00001656●●●●●●
2012. 228482044 c.11323G>T p.A3775S missense 0.00002483●●●●●●
2013. 228482057 c.11336C>T p.A3779V missense 0.00000828●●●●●●
2014. 228482066 c.11345A>C p.Y3782S missense 0.00000828●●●●●●
2015. 228482072 c.11351G>A p.C3784Y missense 0.00000828●●●●●●
2016. 228482074 c.11353G>A p.V3785M missense 0.00000828●●●●●●
2017. 228482079 c.11358C>G p.C3786W missense 0.00002483●●●●●●
2018. 228482080 c.11359G>A p.G3787R missense 0.00000828●●●●●●
2019. 228482087 c.11366A>G p.E3789G missense 0.00000828●●●●●●
2020. 228482102 c.11381C>T p.T3794I missense 0.00000828●●●●●●
2021. 228482111 c.11390T>C p.V3797A missense 0.00000828●●●●●●
2022. 228482505 c.11420A>T p.D3807V missense 0.00000831●●●●●●
2023. 228482516 c.11431C>A p.Q3811K missense 0.00000830●●●●●●
2024. 228482525 c.11440A>G p.R3814G missense 0.00000830●●●●●●
2025. 228482538 c.11453C>A p.T3818K missense 0.00000829●●●●●●
2026. 228482557 c.11472G>C p.E3824D missense 0.00000828●●●●●●
2027. 228482576 c.11491G>A p.V3831M missense 0.00001656●●●●●●
2028. 228482592 c.11507G>T p.G3836V missense 0.00001656●●●●●●
2029. 228482604 c.11519T>A p.L3840H missense 0.00000828●●●●●●
2030. 228482632 c.11547G>T p.R3849S missense 0.00000828●●●●●●
2031. 228482639 c.11554G>A p.G3852R missense 0.00000828●●●●●●
2032. 228482679 c.11594C>A p.A3865E missense 0.00000828●●●●●●
2033. 228482690 c.11605G>A p.E3869K missense 0.00000828●●●●●●
2034. 228482701 c.11616T>G p.C3872W missense 0.00002484●●●●●●
2035. 228482708 c.11623G>A p.G3875R missense 0.00003312●●●●●●
2036. 228482718 c.11633G>A p.R3878K missense 0.00000828●●●●●●
2037. 228482730 c.11645C>T p.T3882I missense 0.00001656●●●●●●
2038. 228482744 c.11659G>A p.A3887T missense 0.00000828●●●●●●
2039. 228494089 c.11676C>G p.F3892L missense 0.00002706●●●●●●
2040. 228494091 c.11678G>A p.R3893Q missense 0.00001326●●●●●●
2041. 228494097 c.11684C>G p.P3895R missense 0.00001270●●●●●●
2042. 228494115 c.11702C>T p.A3901V missense 0.00003412●●●●●●
2043. 228494118 c.11705A>C p.E3902A missense 0.00001097●●●●●●
2044. 228494124 c.11711G>C p.G3904A missense 0.00001067●●●●●●
2045. 228494130 c.11717C>T p.T3906M missense 0.00001030●●●●●●
2046. 228494132 c.11719G>A p.A3907T missense 0.00001008●●●●●●
2047. 228494133 c.11720C>A p.A3907D missense 0.00000999●●●●●●
2048. 228494143 c.11730G>C p.Q3910H missense 0.00000940●●●●●●
2049. 228494159 c.11746C>T p.P3916S missense 0.00000907●●●●●●
2050. 228494181 c.11768G>C p.S3923T missense 0.00001768●●●●●●
2051. 228494189 c.11776G>A p.G3926S missense 0.00000880●●●●●●
2052. 228494198 c.11785C>A p.L3929M missense 0.00001750●●●●●●
2053. 228494205 c.11792C>T p.A3931V missense 0.00000873●●●●●●
2054. 228494213 c.11800C>T p.R3934C missense 0.00002610●●●●●●
2055. 228494214 c.11801G>A p.R3934H missense 0.00004343●●●●●●
2056. 228494222 c.11809C>G p.P3937A missense 0.00002584●●●●●●
2057. 228494225 c.11812C>T p.R3938W missense 0.00002581●●●●●●
2058. 228494243 c.11830G>T p.A3944S missense 0.00002564●●●●●●
2059. 228494252 c.11839G>C p.V3947L missense 0.00000851●●●●●●
2060. 228494264 c.11851C>G p.L3951V missense 0.00000851●●●●●●
2061. 228494271 c.11858G>C p.R3953P missense 0.00000852●●●●●●
2062. 228494278 c.11865C>G p.D3955E missense 0.00000855●●●●●●
2063. 228494279 c.11866A>C p.T3956P missense 0.00000857●●●●●●
2064. 228494285 c.11872G>A p.E3958K missense 0.00000862●●●●●●
2065. 228494288 c.11875T>C p.Y3959H missense 0.00000863●●●●●●
2066. 228494304 c.11891G>T p.G3964V missense 0.00000882●●●●●●
2067. 228494321 c.11908G>A p.A3970T missense 0.00000901●●●●●●
2068. 228494327 c.11914C>T p.L3972F missense 0.00000908●●●●●●
2069. 228494327 c.11914C>G p.L3972V missense 0.00000908●●●●●●
2070. 228494331 c.11918C>G p.T3973S missense 0.00000912●●●●●●
2071. 228494605 c.11930C>T p.A3977V missense 0.00005496●●●●●●
2072. 228494611 c.11936T>C p.V3979A missense 0.00004955●●●●●●
2073. 228494613 c.11938C>T p.R3980W missense 0.00004912●●●●●●
2074. 228494632 c.11957A>C p.Q3986P missense 0.00003805●●●●●●
2075. 228494676 c.12001G>A p.E4001K missense 0.00005983●●●●●●
2076. 228494676 c.12001G>C p.E4001Q missense 0.00003988●●●●●●
2077. 228494686 c.12011G>A p.R4004Q missense 0.00004958●●●●●●
2078. 228494689 c.12014C>T p.A4005V missense 0.00004757●●●●●●
2079. 228494698 c.12023G>A p.S4008N missense 0.00003240●●●●●●
2080. 228494700 c.12025G>A p.V4009M missense 0.00003180●●●●●●
2081. 228494709 c.12034C>T p.R4012C missense 0.00002010●●●●●●
2082. 228494710 c.12035G>A p.R4012H missense 0.00001995●●●●●●
2083. 228494710 c.12035G>T p.R4012L missense 0.00000997●●●●●●
2084. 228494743 c.12068A>T p.K4023M missense 0.00001746●●●●●●
2085. 228494744 c.12069G>T p.K4023N missense 0.00000872●●●●●●
2086. 228494752 c.12077T>G p.M4026R missense 0.00000863●●●●●●
2087. 228494806 c.12131A>G p.D4044G missense 0.00000831●●●●●●
2088. 228494808 c.12133G>A p.A4045T missense 0.00009965●●●●●●
2089. 228494809 c.12134C>T p.A4045V missense 0.00000831●●●●●●
2090. 228494812 c.12137G>T p.G4046V missense 0.00008303●●●●●●
2091. 228494824 c.12149G>T p.C4050F missense 0.00000830●●●●●●
2092. 228494833 c.12158G>A p.G4053D missense 0.00000830●●●●●●
2093. 228494839 c.12164C>T p.T4055M missense 0.00003320●●●●●●
2094. 228494856 c.12181C>T p.L4061F missense 0.00006638●●●●●●
2095. 228494859 c.12184T>C p.S4062P missense 0.00000830●●●●●●
2096. 228494862 c.12187G>A p.V4063I missense 0.00000830●●●●●●
2097. 228494963 c.12197C>T p.P4066L missense 0.00000856●●●●●●
2098. 228494965 c.12199A>G p.R4067G missense 0.00001711●●●●●●
2099. 228494977 c.12211A>G p.K4071E missense 0.00003416●●●●●●
2100. 228494983 c.12217C>G p.R4073G missense 0.00000853●●●●●●
2101. 228494993 c.12227G>T p.S4076I missense 0.00001699●●●●●●
2102. 228494993 c.12227G>C p.S4076T missense 0.00000849●●●●●●
2103. 228494995 c.12229C>G p.L4077V missense 0.00000849●●●●●●
2104. 228495056 c.12290G>A p.G4097E missense 0.00000836●●●●●●
2105. 228495061 c.12295G>A p.V4099M missense 0.00008374●●●●●●
2106. 228495064 c.12298G>A p.V4100M missense 0.00000838●●●●●●
2107. 228495077 c.12311A>G p.K4104R missense 0.00000853●●●●●●
2108. 228495082 c.12316G>T p.G4106C missense 0.00000863●●●●●●
2109. 228495098 c.12332C>G p.A4111G missense 0.00000929●●●●●●
2110. 228495098 c.12332C>T p.A4111V missense 0.00000929●●●●●●
2111. 228495107 c.12341A>C p.K4114T missense 0.00000986●●●●●●
2112. 228495118 c.12352C>T p.R4118W missense 0.00003294●●●●●●
2113. 228495119 c.12353G>A p.R4118Q missense 0.00018987●●●●●●
2114. 228495125 c.12359A>C p.Q4120P missense 0.00002336●●●●●●
2115. 228495130 c.12364G>A p.A4122T missense 0.00005009●●●●●●
2116. 228495130 c.12364G>T p.A4122S missense 0.00001252●●●●●●
2117. 228495134 c.12368C>T p.T4123M missense 0.00001314●●●●●●
2118. 228495136 c.12370C>T p.R4124W missense 0.00001338●●●●●●
2119. 228495137 c.12371G>A p.R4124Q missense 0.00004106●●●●●●
2120. 228495156 c.12390A>C p.Q4130H missense 0.00001578●●●●●●
2121. 228495169 c.12403G>A p.D4135N missense 0.00001817●●●●●●
2122. 228495178 c.12412G>A p.E4138K missense 0.00002022●●●●●●
2123. 228495225 c.12459G>C p.R4153S missense 0.00003145●●●●●●
2124. 228495835 c.12490G>A p.G4164R missense 0.00000829●●●●●●
2125. 228495845 c.12500A>T p.D4167V missense 0.00000829●●●●●●
2126. 228495846 c.12501T>G p.D4167E missense 0.00019059●●●●●●
2127. 228495848 c.12503C>G p.A4168G missense 0.00001658●●●●●●
2128. 228495848 c.12503C>T p.A4168V missense 0.00004144●●●●●●
2129. 228495853 c.12508G>T p.V4170L missense 0.00004144●●●●●●
2130. 228495854 c.12509T>C p.V4170A missense 0.00000829●●●●●●
2131. 228495857 c.12512C>T p.T4171M missense 0.00005802●●●●●●
2132. 228495862 c.12517G>A p.D4173N missense 0.00003315●●●●●●
2133. 228495895 c.12550A>G p.R4184G missense 0.00000831●●●●●●
2134. 228495899 c.12554C>A p.A4185D missense 0.00000831●●●●●●
2135. 228495920 c.12575G>T p.W4192L missense 0.00000839●●●●●●
2136. 228495929 c.12584A>G p.Q4195R missense 0.00001702●●●●●●
2137. 228495931 c.12586G>T p.G4196C missense 0.00000838●●●●●●
2138. 228495934 c.12589C>G p.L4197V missense 0.00000833●●●●●●
2139. 228495944 c.12599A>C p.Q4200P missense 0.00000833●●●●●●
2140. 228495949 c.12604A>G p.N4202D missense 0.00000834●●●●●●
2141. 228495973 c.12628C>G p.R4210G missense 0.00000841●●●●●●
2142. 228495974 c.12629G>A p.R4210Q missense 0.00004206●●●●●●
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2144. 228495991 c.12646A>T p.T4216S missense 0.00000856●●●●●●
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2613. 228529891 c.18106C>T p.R6036C missense 0.00003515●●●●●●
2614. 228529894 c.18109G>A p.V6037M missense 0.00005344●●●●●●
2615. 228529901 c.18116G>A p.G6039D missense 0.00001896●●●●●●
2616. 228537617 c.18175C>A p.H6059N missense 0.00004482●●●●●●
2617. 228537627 c.18185T>A p.L6062H missense 0.00013215●●●●●●
2618. 228537636 c.18194A>G p.D6065G missense 0.00004339●●●●●●
2619. 228537638 c.18196C>T p.P6066S missense 0.00004346●●●●●●
2620. 228537641 c.18199G>C p.D6067H missense 0.00004345●●●●●●
2621. 228537645 c.18203G>A p.G6068D missense 0.00004357●●●●●●
2622. 228537648 c.18206C>T p.S6069L missense 0.00008765●●●●●●
2623. 228537665 c.18223G>A p.D6075N missense 0.00004442●●●●●●
2624. 228537708 c.18266C>T p.A6089V missense 0.00004798●●●●●●
2625. 228537716 c.18274G>A p.A6092T missense 0.00004847●●●●●●
2626. 228537719 c.18277G>A p.A6093T missense 0.00004886●●●●●●
2627. 228537756 c.18314A>G p.Q6105R missense 0.00005117●●●●●●
2628. 228538547 c.18322C>T p.P6108S missense 0.00000835●●●●●●
2629. 228538548 c.18323C>A p.P6108Q missense 0.00000835●●●●●●
2630. 228538548 c.18323C>G p.P6108R missense 0.00000835●●●●●●
2631. 228538551 c.18326G>C p.R6109P missense 0.00000835●●●●●●
2632. 228538551 c.18326G>A p.R6109Q missense 0.00003339●●●●●●
2633. 228538556 c.18331G>A p.V6111M missense 0.00005847●●●●●●
2634. 228538577 c.18352C>T p.P6118S missense 0.00000840●●●●●●
2635. 228538602 c.18377A>G p.Q6126R missense 0.00000856●●●●●●
2636. 228538619 c.18394G>A p.E6132K missense 0.00000873●●●●●●
2637. 228538625 c.18400G>A p.A6134T missense 0.00000881●●●●●●
2638. 228538637 c.18412C>A p.Q6138K missense 0.00000898●●●●●●
2639. 228539083 c.18481C>T p.R6161C missense 0.00003891●●●●●●
2640. 228539084 c.18482G>T p.R6161L missense 0.00003935●●●●●●
2641. 228539110 c.18508C>T p.R6170W missense 0.00003824●●●●●●
2642. 228539111 c.18509G>A p.R6170Q missense 0.00007644●●●●●●
2643. 228540656 c.18554T>C p.V6185A missense 0.00007066●●●●●●
2644. 228540661 c.18559C>T p.R6187W missense 0.00021468●●●●●●
2645. 228540677 c.18575G>A p.R6192Q missense 0.00011811●●●●●●
2646. 228540684 c.18582T>A p.S6194R missense 0.00005506●●●●●●
2647. 228540686 c.18584C>A p.A6195E missense 0.00005453●●●●●●
2648. 228540686 c.18584C>T p.A6195V missense 0.00005453●●●●●●
2649. 228540694 c.18592C>T p.R6198C missense 0.00010172●●●●●●
2650. 228540697 c.18595A>C p.I6199L missense 0.00004932●●●●●●
2651. 228540742 c.18640C>A p.Q6214K missense 0.00004494●●●●●●
2652. 228540757 c.18655G>A p.V6219M missense 0.00004898●●●●●●
2653. 228543869 c.18679A>G p.K6227E missense 0.00000828●●●●●●
2654. 228543870 c.18680A>C p.K6227T missense 0.00000828●●●●●●
2655. 228543885 c.18695C>G p.T6232S missense 0.00000828●●●●●●
2656. 228547302 c.18709G>C p.E6237Q missense 0.00002761●●●●●●
2657. 228547305 c.18712A>G p.T6238A missense 0.00002653●●●●●●
2658. 228547324 c.18731A>G p.K6244R missense 0.00002211●●●●●●
2659. 228547332 c.18739C>T p.R6247C missense 0.00004245●●●●●●
2660. 228547339 c.18746A>G p.Q6249R missense 0.00002020●●●●●●
2661. 228547345 c.18752G>T p.R6251L missense 0.00009912●●●●●●
2662. 228547345 c.18752G>C p.R6251P missense 0.00001982●●●●●●
2663. 228547369 c.18776G>T p.R6259L missense 0.00002006●●●●●●
2664. 228547381 c.18788G>A p.R6263H missense 0.00002035●●●●●●
2665. 228547396 c.18803C>T p.P6268L missense 0.00006195●●●●●●
2666. 228547407 c.18814G>A p.G6272S missense 0.00002102●●●●●●
2667. 228547417 c.18824C>A p.A6275D missense 0.00004250●●●●●●
2668. 228547419 c.18826C>T p.P6276S missense 0.00002111●●●●●●
2669. 228547450 c.18857A>G p.Q6286R missense 0.00001820●●●●●●
2670. 228547455 c.18862C>T p.R6288C missense 0.00010671●●●●●●
2671. 228547476 c.18883G>A p.G6295S missense 0.00003153●●●●●●
2672. 228547477 c.18884G>A p.G6295D missense 0.00001576●●●●●●
2673. 228547497 c.18904A>T p.T6302S missense 0.00001524●●●●●●
2674. 228547510 c.18917C>T p.T6306M missense 0.00001554●●●●●●
2675. 228547512 c.18919G>C p.E6307Q missense 0.00010900●●●●●●
2676. 228547518 c.18925G>A p.E6309K missense 0.00004685●●●●●●
2677. 228547530 c.18937C>G p.P6313A missense 0.00001587●●●●●●
2678. 228547530 c.18937C>T p.P6313S missense 0.00001587●●●●●●
2679. 228547542 c.18949G>A p.G6317R missense 0.00008017●●●●●●
2680. 228547549 c.18956C>T p.S6319L missense 0.00017474●●●●●●
2681. 228547555 c.18962C>T p.P6321L missense 0.00001583●●●●●●
2682. 228547575 c.18982G>A p.V6328M missense 0.00003168●●●●●●
2683. 228547596 c.19003C>T p.R6335W missense 0.00003406●●●●●●
2684. 228547597 c.19004G>A p.R6335Q missense 0.00022394●●●●●●
2685. 228547612 c.19019G>A p.G6340D missense 0.00001893●●●●●●
2686. 228547623 c.19030G>A p.V6344M missense 0.00004144●●●●●●
2687. 228547640 c.19047G>C p.E6349D missense 0.00002376●●●●●●
2688. 228547665 c.19072C>A p.L6358I missense 0.00002943●●●●●●
2689. 228547680 c.19087G>C p.G6363R missense 0.00012749●●●●●●
2690. 228547680 c.19087G>A p.G6363S missense 0.00015936●●●●●●
2691. 228547684 c.19091C>T p.A6364V missense 0.00003296●●●●●●
2692. 228547689 c.19096C>A p.P6366T missense 0.00013223●●●●●●
2693. 228547692 c.19099G>A p.G6367R missense 0.00003340●●●●●●
2694. 228547707 c.19114T>C p.S6372P missense 0.00003292●●●●●●
2695. 228547761 c.19168G>A p.A6390T missense 0.00002475●●●●●●
2696. 228547803 c.19210G>A p.A6404T missense 0.00001503●●●●●●
2697. 228547804 c.19211C>T p.A6404V missense 0.00001490●●●●●●
2698. 228547816 c.19223T>C p.V6408A missense 0.00007822●●●●●●
2699. 228547831 c.19238C>G p.S6413C missense 0.00001117●●●●●●
2700. 228547851 c.19258G>C p.E6420Q missense 0.00000967●●●●●●
2701. 228547857 c.19264G>C p.G6422R missense 0.00002816●●●●●●
2702. 228547864 c.19271T>G p.M6424R missense 0.00001825●●●●●●
2703. 228547865 c.19272G>A p.M6424I missense 0.00000911●●●●●●
2704. 228547882 c.19289A>G p.E6430G missense 0.00000865●●●●●●
2705. 228547886 c.19293G>C p.E6431D missense 0.00006013●●●●●●
2706. 228547888 c.19295G>T p.G6432V missense 0.00000857●●●●●●
2707. 228547888 c.19295G>A p.G6432E missense 0.00002571●●●●●●
2708. 228547893 c.19300G>A p.D6434N missense 0.00000851●●●●●●
2709. 228547896 c.19303G>A p.G6435R missense 0.00001697●●●●●●
2710. 228547902 c.19309G>A p.A6437T missense 0.00002516●●●●●●
2711. 228547902 c.19309G>C p.A6437P missense 0.00000839●●●●●●
2712. 228547937 c.19344C>A p.S6448R missense 0.00000837●●●●●●
2713. 228547948 c.19355G>A p.R6452H missense 0.00000837●●●●●●
2714. 228547948 c.19355G>T p.R6452L missense 0.00001674●●●●●●
2715. 228547953 c.19360C>T p.P6454S missense 0.00004184●●●●●●
2716. 228547961 c.19368C>G p.I6456M missense 0.00003348●●●●●●
2717. 228547966 c.19373C>T p.T6458M missense 0.00002512●●●●●●
2718. 228547968 c.19375C>T p.H6459Y missense 0.00001674●●●●●●
2719. 228547977 c.19384C>T p.R6462C missense 0.00002513●●●●●●
2720. 228547978 c.19385G>T p.R6462L missense 0.00000838●●●●●●
2721. 228547978 c.19385G>A p.R6462H missense 0.00004189●●●●●●
2722. 228547987 c.19394C>T p.T6465I missense 0.00000838●●●●●●
2723. 228548025 c.19432G>A p.E6478K missense 0.00006741●●●●●●
2724. 228548038 c.19445G>A p.C6482Y missense 0.00001689●●●●●●
2725. 228548044 c.19451G>A p.G6484D missense 0.00001691●●●●●●
2726. 228548046 c.19453C>T p.P6485S missense 0.00000846●●●●●●
2727. 228548064 c.19471G>A p.D6491N missense 0.00000849●●●●●●
2728. 228548065 c.19472A>G p.D6491G missense 0.00000849●●●●●●
2729. 228548066 c.19473T>A p.D6491E missense 0.00001699●●●●●●
2730. 228548074 c.19481C>G p.P6494R missense 0.00001700●●●●●●
2731. 228548088 c.19495G>C p.V6499L missense 0.00000852●●●●●●
2732. 228548098 c.19505G>T p.R6502I missense 0.00000855●●●●●●
2733. 228548101 c.19508A>C p.E6503A missense 0.00000856●●●●●●
2734. 228548106 c.19513G>C p.G6505R missense 0.00000858●●●●●●
2735. 228548107 c.19514G>A p.G6505E missense 0.00001719●●●●●●
2736. 228548116 c.19523C>T p.T6508M missense 0.00006052●●●●●●
2737. 228548137 c.19544T>C p.L6515P missense 0.00001769●●●●●●
2738. 228548139 c.19546A>C p.S6516R missense 0.00000888●●●●●●
2739. 228548142 c.19549G>C p.V6517L missense 0.00000891●●●●●●
2740. 228548143 c.19550T>G p.V6517G missense 0.00000892●●●●●●
2741. 228548146 c.19553G>A p.G6518E missense 0.00000900●●●●●●
2742. 228548148 c.19555C>T p.H6519Y missense 0.00000900●●●●●●
2743. 228548150 c.19557T>A p.H6519Q missense 0.00001807●●●●●●
2744. 228548164 c.19571G>A p.R6524Q missense 0.00000939●●●●●●
2745. 228548175 c.19582G>A p.G6528S missense 0.00002897●●●●●●
2746. 228548175 c.19582G>T p.G6528C missense 0.00000966●●●●●●
2747. 228548194 c.19601C>T p.P6534L missense 0.00001948●●●●●●
2748. 228548202 c.19609G>T p.A6537S missense 0.00000982●●●●●●
2749. 228548217 c.19624C>T p.P6542S missense 0.00000987●●●●●●
2750. 228548218 c.19625C>T p.P6542L missense 0.00000988●●●●●●
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2753. 228548226 c.19633C>T p.R6545C missense 0.00005923●●●●●●
2754. 228548239 c.19646G>A p.G6549D missense 0.00001951●●●●●●
2755. 228548242 c.19649C>T p.T6550I missense 0.00000972●●●●●●
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2758. 228548266 c.19673C>T p.P6558L missense 0.00016132●●●●●●
2759. 228548271 c.19678C>T p.R6560W missense 0.00002819●●●●●●
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2764. 228548302 c.19709C>T p.S6570F missense 0.00001842●●●●●●
2765. 228548308 c.19715G>A p.C6572Y missense 0.00000922●●●●●●
2766. 228548313 c.19720C>T p.R6574C missense 0.00000925●●●●●●
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2779. 228548421 c.19828C>T p.P6610S missense 0.00000963●●●●●●
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2783. 228469903 c.8467A>T p.R2823X nonsense 0.03568709●●●●●●
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2789. 228525016 c.16732C>T p.R5578X nonsense 0.00000961●●●●●●
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2792. 228433293 c.3661C>T p.Arg1221Ter nonsense 0.00000828●●●●●●
2793. 228496931 c.12871C>T p.Gln4291Ter nonsense 0.00002398●●●●●●
2794. 228525799 c.16955C>A p.Ser5652Ter nonsense 0.00000896●●●●●●
2795. 228547341 c.18748C>T p.Arg6250Ter nonsense 0.00076911●●●●●●
2796. 228400310 c.826C>T p.Q276X nonsense 0.00001720●●●●●●
2797. 228401366 c.1213G>T p.E405X nonsense 0.00011044●●●●●●
2798. 228402069 c.1453G>T p.E485X nonsense 0.00000835●●●●●●
2799. 228402120 c.1504C>T p.Q502X nonsense 0.00000837●●●●●●
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2801. 228402733 c.1762C>T p.R588X nonsense 0.00004259●●●●●●
2802. 228404872 c.2536C>T p.Q846X nonsense 0.00000833●●●●●●
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2804. 228412357 c.2851C>T p.Q951X nonsense 0.00000831●●●●●●
2805. 228412405 c.2899C>T p.Q967X nonsense 0.00000846●●●●●●
2806. 228433359 c.3727C>T p.Q1243X nonsense 0.00000833●●●●●●
2807. 228434455 c.3984C>A p.Y1328X nonsense 0.00000829●●●●●●
2808. 228437781 c.4149G>A p.W1383X nonsense 0.00000829●●●●●●
2809. 228437815 c.4183A>T p.K1395X nonsense 0.00000828●●●●●●
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2812. 228456428 c.5059C>T p.Q1687X nonsense 0.00001672●●●●●●
2813. 228462278 c.5689C>T p.R1897X nonsense 0.00004942●●●●●●
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2816. 228464987 c.6727C>T p.Q2243X nonsense 0.00000896●●●●●●
2817. 228465538 c.6838C>T p.R2280X nonsense 0.00013415●●●●●●
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2819. 228467909 c.7693C>T p.Q2565X nonsense 0.00000838●●●●●●
2820. 228468299 c.7999C>T p.Q2667X nonsense 0.00000831●●●●●●
2821. 228469804 c.8368C>T p.R2790X nonsense 0.00000848●●●●●●
2822. 228471427 c.8961C>A p.C2987X nonsense 0.00000837●●●●●●
2823. 228474577 c.9381C>A p.C3127X nonsense 0.00000843●●●●●●
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2833. 228482657 c.11572C>T p.Q3858X nonsense 0.00000828●●●●●●
2834. 228494622 c.11947C>T p.R3983X nonsense 0.00004331●●●●●●
2835. 228495921 c.12576G>A p.W4192X nonsense 0.00000839●●●●●●
2836. 228495928 c.12583C>T p.Q4195X nonsense 0.00000849●●●●●●
2837. 228503628 c.13093C>T p.Q4365X nonsense 0.00001223●●●●●●
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2847. 228525020 c.16736C>G p.S5579X nonsense 0.00000959●●●●●●
2848. 228525043 c.16759G>T p.E5587X nonsense 0.00000950●●●●●●
2849. 228527662 c.17275C>T p.Q5759X nonsense 0.00000830●●●●●●
2850. 228528212 c.17421C>G p.Y5807X nonsense 0.00004386●●●●●●
2851. 228528904 c.17806C>T p.R5936X nonsense 0.00000848●●●●●●
2852. 228548163 c.19570C>T p.R6524X nonsense 0.00001879●●●●●●
2853. 228548220 c.19627C>T p.Q6543X nonsense 0.00000988●●●●●●
2854. 228548439 c.19846G>T p.E6616X nonsense 0.00002969●●●●●●
2855. 228548448 c.19855C>T p.Q6619X nonsense 0.00001018●●●●●●
2856. 228404997 c.2653+8C>T splice site 0.03199417●●●●●●
2857. 228461757 c.5416+8G>A splice site 0.20523323●●●●●●
2858. 228506961 c.14502+6delC splice site 0.00309770●●●●●●
2859. 228522776 c.16187-5C>A splice site 0.01638752●●●●●●
2860. 228511022 c.15374-7A>T splice site 0.00022033●●●●●●
2861. 228522509 c.16088-7C>A splice site 0.00009842●●●●●●
2862. 228467881 c.7665G>A p.A2555A splice site 0.00051968●●●●●●
2863. 228468496 c.8196C>T p.H2732H splice site 0.00019058●●●●●●
2864. 228481854 c.11133C>T p.A3711A splice site 0.00036447●●●●●●
2865. 228494961 c.12195C>T p.V4065V splice site 0.00000857●●●●●●
2866. 228523005 c.16405+6_16405+7insG splice site 0.39772727●●●●●●
2867. 228412161 c.2655G>A p.E885E splice site 0.00001681●●●●●●
2868. 228431164 c.3205+5G>T splice site 0.00005489●●●●●●
2869. 228431990 c.3206-7C>T splice site 0.00001665●●●●●●
2870. 228433109 c.3482-5C>G splice site 0.00001702●●●●●●
2871. 228444347 c.4310-5C>T splice site 0.00010777●●●●●●
2872. 228466382 c.6860-8G>A splice site 0.00006125●●●●●●
2873. 228466868 c.7127-8C>T splice site 0.00002584●●●●●●
2874. 228476327 c.10077C>T p.P3359P splice site 0.00000829●●●●●●
2875. 228494952 c.12194-8C>T splice site 0.00000856●●●●●●
2876. 228495240 c.12466+8G>T splice site 0.00003475●●●●●●
2877. 228505590 c.13850-3C>T splice site 0.00009624●●●●●●
2878. 228505879 c.14131+5G>A splice site 0.00006271●●●●●●
2879. 228506962 c.14502+7C>A splice site 0.00020437●●●●●●
2880. 228521489 c.16054+8C>T splice site 0.00041982●●●●●●
2881. 228523979 c.16537+8C>T splice site 0.00004145●●●●●●
2882. 228524701 c.16538-4G>T splice site 0.00023572●●●●●●
2883. 228524939 c.16661-6C>T splice site 0.00000878●●●●●●
2884. 228525091 c.16800+7G>T splice site 0.00000974●●●●●●
2885. 228525641 c.16801-4T>C splice site 0.00001029●●●●●●
2886. 228526078 c.17084+5G>A splice site 0.00001673●●●●●●
2887. 228433395 c.3757+6delT splice site 0.00000856●●●●●●
2888. 228434221 c.3758-8delA splice site 0.00001682●●●●●●
2889. 228401417 c.1258+6C>T splice site 0.00126263●●●●●●
2890. 228434220 c.3758-9C>T splice site 0.00041218●●●●●●
2891. 228434223 c.3758-6C>T splice site 0.00001677●●●●●●
2892. 228456224 c.4862-7T>C splice site 0.00001701●●●●●●
2893. 228456226 c.4862-5C>T splice site 0.00000850●●●●●●
2894. 228463452 c.5954-9C>T splice site 0.00029753●●●●●●
2895. 228463736 c.6220+9C>T splice site 0.00005198●●●●●●
2896. 228464141 c.6221-10T>G splice site 0.00000897●●●●●●
2897. 228464146 c.6221-5C>G splice site 0.00020543●●●●●●
2898. 228464627 c.6488-4C>T splice site 0.00003593●●●●●●
2899. 228465451 c.6755-4C>T splice site 0.00005880●●●●●●
2900. 228469627 c.8198-7C>T splice site 0.00000884●●●●●●
2901. 228470995 c.8737+10G>T splice site 0.34532143●●●●●●
2902. 228475754 c.9812-8T>C splice site 0.00004167●●●●●●
2903. 228476593 c.10339+4A>G splice site 0.00001656●●●●●●
2904. 228476595 c.10339+6G>A splice site 0.00006625●●●●●●
2905. 228482125 c.11395+9C>T splice site 0.00014073●●●●●●
2906. 228494343 c.11926+4G>C splice site 0.00054130●●●●●●
2907. 228497176 c.12937-9G>A splice site 0.00113618●●●●●●
2908. 228497271 c.13012+11C>A splice site 0.00204333●●●●●●
2909. 228506574 c.14132-11G>T splice site 0.00009497●●●●●●
2910. 228520894 c.15732-6T>C splice site 0.00001625●●●●●●
2911. 228522254 c.16087+9G>A splice site 0.00001822●●●●●●
2912. 228523977 c.16537+6G>A splice site 0.00000829●●●●●●
2913. 228527811 c.17415+9G>A splice site 0.00038430●●●●●●
2914. 228527812 c.17415+10C>A splice site 0.00098559●●●●●●
2915. 228528416 c.17533-9C>T splice site 0.00003663●●●●●●
2916. 228528785 c.17698-11C>T splice site 0.00002415●●●●●●
2917. 228529129 c.17857-9C>A splice site 0.13864465●●●●●●
2918. 228537580 c.18149-11G>A splice site 0.00004925●●●●●●
2919. 228444620 c.4578C>T splice site 0.00003352●●●●●●
2920. 228401134 c.989-8C>A splice site 0.00004822●●●●●●
2921. 228401143 c.990G>A splice site 0.00004549●●●●●●
2922. 228401416 c.1258+5_1258+6insCGGGGCGGGGCA splice site 0.00269845●●●●●●
2923. 228402134 c.1518G>A splice site 0.00000837●●●●●●
2924. 228402134 c.1518G>C splice site 0.00000837●●●●●●
2925. 228402138 c.1519+3G>A splice site 0.00000837●●●●●●
2926. 228403258 c.1829-6C>T splice site 0.00003728●●●●●●
2927. 228403260 c.1829-4A>C splice site 0.00010947●●●●●●
2928. 228403535 c.2095+5G>T splice site 0.00001167●●●●●●
2929. 228403537 c.2095+7G>A splice site 0.00003537●●●●●●
2930. 228404123 c.2097G>A splice site 0.00008456●●●●●●
2931. 228404715 c.2379C>T splice site 0.00001786●●●●●●
2932. 228431158 c.3204A>T splice site 0.00000899●●●●●●
2933. 228431163 c.3205+4G>A splice site 0.00000914●●●●●●
2934. 228431990 c.3206-7C>A splice site 0.00001665●●●●●●
2935. 228432278 c.3481+6delT splice site 0.00000847●●●●●●
2936. 228433107 c.3482-7C>T splice site 0.00000854●●●●●●
2937. 228434230 c.3759G>A splice site 0.00000835●●●●●●
2938. 228437660 c.4034-6C>T splice site 0.00000831●●●●●●
2939. 228437944 c.4309+3C>G splice site 0.00000841●●●●●●
2940. 228451809 c.4586-8T>C splice site 0.00000831●●●●●●
2941. 228451813 c.4586-4C>G splice site 0.00000831●●●●●●
2942. 228452091 c.4860A>G splice site 0.00000851●●●●●●
2943. 228461873 c.5417-6C>T splice site 0.00000858●●●●●●
2944. 228462152 c.5683+7A>G splice site 0.00000896●●●●●●
2945. 228463734 c.6220+7C>A splice site 0.00010169●●●●●●
2946. 228463735 c.6220+8G>C splice site 0.00005150●●●●●●
2947. 228464144 c.6221-7A>G splice site 0.00000894●●●●●●
2948. 228464145 c.6221-6C>T splice site 0.00000894●●●●●●
2949. 228464146 c.6221-5C>T splice site 0.00000893●●●●●●
2950. 228464147 c.6221-4G>A splice site 0.00001782●●●●●●
2951. 228464416 c.6486C>T splice site 0.00011058●●●●●●
2952. 228464855 c.6601-6G>A splice site 0.00002441●●●●●●
2953. 228465567 c.6859+8G>C splice site 0.00000854●●●●●●
2954. 228465567 c.6859+8G>A splice site 0.00000854●●●●●●
2955. 228466391 c.6861G>A splice site 0.00006910●●●●●●
2956. 228466661 c.7126+5A>T splice site 0.00000834●●●●●●
2957. 228466661 c.7126+5A>G splice site 0.00000834●●●●●●
2958. 228466662 c.7126+6G>T splice site 0.00001670●●●●●●
2959. 228466872 c.7127-4A>C splice site 0.00000858●●●●●●
2960. 228466873 c.7127-3C>G splice site 0.00000857●●●●●●
2961. 228467514 c.7397-8delC splice site 0.00001832●●●●●●
2962. 228467793 c.7663+5G>T splice site 0.00000871●●●●●●
2963. 228468154 c.7930+8A>G splice site 0.00001624●●●●●●
2964. 228468227 c.7931-4G>T splice site 0.00013981●●●●●●
2965. 228468502 c.8197+5G>A splice site 0.00001018●●●●●●
2966. 228469629 c.8198-5C>T splice site 0.00000880●●●●●●
2967. 228469630 c.8198-4G>A splice site 0.00002630●●●●●●
2968. 228469914 c.8470+8G>A splice site 0.00000875●●●●●●
2969. 228470716 c.8471-3C>T splice site 0.00011489●●●●●●
2970. 228471196 c.8738-8T>A splice site 0.00000839●●●●●●
2971. 228471198 c.8738-6C>T splice site 0.00000838●●●●●●
2972. 228471473 c.9004+3G>A splice site 0.00000847●●●●●●
2973. 228471475 c.9004+5G>A splice site 0.00000847●●●●●●
2974. 228471476 c.9004+6G>A splice site 0.00000848●●●●●●
2975. 228471477 c.9004+7C>T splice site 0.00006785●●●●●●
2976. 228471478 c.9004+8G>A splice site 0.00000849●●●●●●
2977. 228473781 c.9007C>A splice site 0.00004823●●●●●●
2978. 228474467 c.9278-7C>G splice site 0.00001671●●●●●●
2979. 228474469 c.9278-5C>G splice site 0.00000835●●●●●●
2980. 228474469 c.9278-5C>T splice site 0.00000835●●●●●●
2981. 228475389 c.9545-6C>T splice site 0.00000841●●●●●●
2982. 228475396 c.9546G>A splice site 0.00001677●●●●●●
2983. 228475666 c.9811+5G>A splice site 0.00000834●●●●●●
2984. 228476592 c.10339+3A>G splice site 0.00000828●●●●●●
2985. 228479601 c.10342C>T splice site 0.00001743●●●●●●
2986. 228479869 c.10603+7A>G splice site 0.00000828●●●●●●
2987. 228479870 c.10603+8T>C splice site 0.00000828●●●●●●
2988. 228481046 c.10868-8_10868-7insC splice site 0.00004274●●●●●●
2989. 228481055 c.10869T>C splice site 0.00000843●●●●●●
2990. 228482115 c.11394G>A splice site 0.00000828●●●●●●
2991. 228482119 c.11395+3A>G splice site 0.00000828●●●●●●
2992. 228482122 c.11395+6G>T splice site 0.00000828●●●●●●
2993. 228482475 c.11396-6T>C splice site 0.00000835●●●●●●
2994. 228482477 c.11396-4C>T splice site 0.00000834●●●●●●
2995. 228482747 c.11659+3A>G splice site 0.00009107●●●●●●
2996. 228482752 c.11659+8C>G splice site 0.00001656●●●●●●
2997. 228494065 c.11660-8C>T splice site 0.00001568●●●●●●
2998. 228494067 c.11660-6C>G splice site 0.00001550●●●●●●
2999. 228494343 c.11926+4G>A splice site 0.00001867●●●●●●
3000. 228494955 c.12194-5C>T splice site 0.00002569●●●●●●
3001. 228494956 c.12194-4G>A splice site 0.00002569●●●●●●
3002. 228495804 c.12467-8delC splice site 0.00000830●●●●●●
3003. 228496089 c.12739+5C>A splice site 0.00005753●●●●●●
3004. 228497004 c.12936+8C>T splice site 0.00003072●●●●●●
3005. 228497265 c.13012+5G>A splice site 0.00000830●●●●●●
3006. 228497266 c.13012+6C>A splice site 0.00001661●●●●●●
3007. 228503828 c.13285+8C>T splice site 0.00003675●●●●●●
3008. 228504404 c.13286-6C>A splice site 0.00001082●●●●●●
3009. 228504407 c.13286-3C>T splice site 0.00001074●●●●●●
3010. 228505589 c.13850-4C>G splice site 0.00000875●●●●●●
3011. 228505878 c.14131+4C>T splice site 0.00008921●●●●●●
3012. 228506961 c.14502+6_14502+7insC splice site 0.00106642●●●●●●
3013. 228506960 c.14502+5G>T splice site 0.00005078●●●●●●
3014. 228506962 c.14502+7C>T splice site 0.00005109●●●●●●
3015. 228509040 c.14503-5C>T splice site 0.00000880●●●●●●
3016. 228511313 c.15652+6T>C splice site 0.00000937●●●●●●
3017. 228520555 c.15653-6delC splice site 0.00000840●●●●●●
3018. 228520643 c.15731+4delG splice site 0.00005963●●●●●●
3019. 228520642 c.15731+3A>G splice site 0.00000852●●●●●●
3020. 228521488 c.16054+7G>A splice site 0.00006961●●●●●●
3021. 228522244 c.16086A>G splice site 0.00003684●●●●●●
3022. 228522621 c.16186+7C>T splice site 0.00004670●●●●●●
3023. 228522622 c.16186+8G>A splice site 0.00009328●●●●●●
3024. 228522999 c.16405C>T splice site 0.00011569●●●●●●
3025. 228523484 c.16406-8C>T splice site 0.00000829●●●●●●
3026. 228523975 c.16537+4C>T splice site 0.00002487●●●●●●
3027. 228524700 c.16538-5C>T splice site 0.00009447●●●●●●
3028. 228524701 c.16538-4G>A splice site 0.00003626●●●●●●
3029. 228524702 c.16538-3C>G splice site 0.00001729●●●●●●
3030. 228524941 c.16661-4C>T splice site 0.00000879●●●●●●
3031. 228525088 c.16800+4G>A splice site 0.00000971●●●●●●
3032. 228525090 c.16800+6C>T splice site 0.00000975●●●●●●
3033. 228525849 c.17001+4T>C splice site 0.00000922●●●●●●
3034. 228527643 c.17259-3C>T splice site 0.00001661●●●●●●
3035. 228528200 c.17416-7C>T splice site 0.00004611●●●●●●
3036. 228528417 c.17533-8G>A splice site 0.00001832●●●●●●
3037. 228528427 c.17535G>A splice site 0.00004614●●●●●●
3038. 228528594 c.17697+5G>T splice site 0.00007012●●●●●●
3039. 228528789 c.17698-7C>T splice site 0.00001161●●●●●●
3040. 228529132 c.17857-6C>G splice site 0.00000925●●●●●●
3041. 228529134 c.17857-4A>G splice site 0.00000920●●●●●●
3042. 228529320 c.18034+5G>A splice site 0.00000886●●●●●●
3043. 228529322 c.18034+7G>A splice site 0.00000889●●●●●●
3044. 228538650 c.18419+6G>A splice site 0.00000932●●●●●●
3045. 228539018 c.18420-4C>A splice site 0.00008598●●●●●●
3046. 228539158 c.18549+7A>G splice site 0.00004213●●●●●●
3047. 228543853 c.18663C>T splice site 0.00000828●●●●●●
3048. 228543898 c.18704+4A>C splice site 0.00000828●●●●●●
3049. 228462543 c.5953+1G>T essential splice site 0.00016364●●●●●●
3050. 228523899 c.16467-2_16467-1insG essential splice site 0.00000829●●●●●●
3051. 228404990 c.2653+1G>C essential splice site 0.00056373●●●●●●
3052. 228464418 c.6487+1G>T essential splice site 0.00011451●●●●●●
3053. 228469908 c.8470+2T>C essential splice site 0.00000868●●●●●●
3054. 228471202 c.8738-2A>G essential splice site 0.00000837●●●●●●
3055. 228476026 c.10075+1G>A essential splice site 0.00003402●●●●●●
3056. 228476590 c.10339+1G>A essential splice site 0.00000828●●●●●●
3057. 228481053 c.10868-1G>A essential splice site 0.00000844●●●●●●
3058. 228400473 c.988+1G>T essential splice site 0.00001339●●●●●●
3059. 228403262 c.1829-2A>C essential splice site 0.00003583●●●●●●
3060. 228412159 c.2654-1G>T essential splice site 0.00000841●●●●●●
3061. 228432273 c.3481+1G>A essential splice site 0.00000844●●●●●●
3062. 228433113 c.3482-1G>T essential splice site 0.00000846●●●●●●
3063. 228461750 c.5416+1G>A essential splice site 0.00000913●●●●●●
3064. 228461877 c.5417-2A>G essential splice site 0.00000856●●●●●●
3065. 228465454 c.6755-1G>A essential splice site 0.00000839●●●●●●
3066. 228465560 c.6859+1G>A essential splice site 0.00000847●●●●●●
3067. 228466657 c.7126+1G>A essential splice site 0.00000834●●●●●●
3068. 228467146 c.7396+1G>T essential splice site 0.00002717●●●●●●
3069. 228467790 c.7663+2T>A essential splice site 0.00000882●●●●●●
3070. 228468498 c.8197+1G>A essential splice site 0.00001008●●●●●●
3071. 228471202 c.8738-2A>C essential splice site 0.00000837●●●●●●
3072. 228475394 c.9545-1G>A essential splice site 0.00000839●●●●●●
3073. 228475760 c.9812-2A>G essential splice site 0.00000833●●●●●●
3074. 228476324 c.10076-2A>G essential splice site 0.00000829●●●●●●
3075. 228480488 c.10867+1G>T essential splice site 0.00000828●●●●●●
3076. 228505163 c.13562-2A>C essential splice site 0.00001800●●●●●●
3077. 228505164 c.13562-1G>T essential splice site 0.00000897●●●●●●
3078. 228511027 c.15374-2A>G essential splice site 0.00005503●●●●●●
3079. 228511028 c.15374-1G>A essential splice site 0.00003638●●●●●●
3080. 228522779 c.16187-2A>G essential splice site 0.00006007●●●●●●
3081. 228523553 c.16466+1G>T essential splice site 0.00000829●●●●●●
3082. 228524828 c.16660+1G>T essential splice site 0.00000832●●●●●●
3083. 228524943 c.16661-2A>G essential splice site 0.00000879●●●●●●
3084. 228525989 c.17002-2A>G essential splice site 0.00001452●●●●●●
3085. 228528324 c.17532+1G>A essential splice site 0.00002233●●●●●●
3086. 228528324 c.17532+1G>T essential splice site 0.00002233●●●●●●
3087. 228528591 c.17697+2T>C essential splice site 0.00002160●●●●●●
3088. 228529316 c.18034+1G>A essential splice site 0.00000882●●●●●●
3089. 228538646 c.18419+2T>C essential splice site 0.00000912●●●●●●
3090. 228539153 c.18549+2T>A essential splice site 0.00004036●●●●●●
3091. 228466583 c.7053delC p.H2352Tfs*28 frameshift 0.00003325●●●●●●
3092. 228467745 c.7620delC p.Q2541Rfs*18 frameshift 0.00002315●●●●●●
3093. 228468374 c.8074delT p.Y2692Mfs*17 frameshift 0.00000835●●●●●●
3094. 228529181 c.17900delG p.R5967Pfs*30 frameshift 0.00000861●●●●●●
3095. 228543874 c.18684delC p.K6230Rfs*132 frameshift 0.00001656●●●●●●
3096. 228399495 c.11_12delCA p.Gln5ValfsTer31 frameshift 0.00001217●●●●●●
3097. 228400237 c.753_754insG p.Lys253GlnfsTer103 frameshift 0.00000903●●●●●●
3098. 228401963 c.1347delC p.Val451SerfsTer27 frameshift 0.00000853●●●●●●
3099. 228402702 c.1731delT p.Asp578MetfsTer38 frameshift 0.00000849●●●●●●
3100. 228404775 c.2439delC p.Pro814ArgfsTer97 frameshift 0.00000841●●●●●●
3101. 228404790 c.2454_2455delGT p.Cys819Ter frameshift 0.00000836●●●●●●
3102. 228404973 c.2637delC p.Arg880GlyfsTer31 frameshift 0.00000859●●●●●●
3103. 228430908 c.2954_2955insGCAG p.Asp985GlufsTer8 frameshift 0.00000908●●●●●●
3104. 228430915 c.2961delG p.Ala988HisfsTer15 frameshift 0.00000892●●●●●●
3105. 228434381 c.3910_3911delGT p.Val1304AlafsTer27 frameshift 0.00000828●●●●●●
3106. 228437814 c.4182delG p.Val1396PhefsTer78 frameshift 0.00000828●●●●●●
3107. 228437941 c.4309delG p.Glu1437SerfsTer37 frameshift 0.00000839●●●●●●
3108. 228444372 c.4330delA p.Lys1444ArgfsTer30 frameshift 0.00000829●●●●●●
3109. 228444456 c.4414_4418delGAGGT p.Glu1472AspfsTer74 frameshift 0.00001658●●●●●●
3110. 228444570 c.4528delG p.Glu1511SerfsTer44 frameshift 0.00000831●●●●●●
3111. 228456334 c.4965_4966delAG p.Glu1656GlyfsTer78 frameshift 0.00000835●●●●●●
3112. 228462008 c.5546delG p.Val1850TrpfsTer50 frameshift 0.00002516●●●●●●
3113. 228464158 c.6228_6232delGGTAC p.Val2077AlafsTer34 frameshift 0.00000884●●●●●●
3114. 228464179 c.6249_6252delGCAG p.Ala2085TrpfsTer81 frameshift 0.00000890●●●●●●
3115. 228464937 c.6677delG p.Cys2227AlafsTer22 frameshift 0.00001072●●●●●●
3116. 228464992 c.6732_6733delCT p.Ser2245CysfsTer95 frameshift 0.00000895●●●●●●
3117. 228467013 c.7264delG p.Asn2424ThrfsTer13 frameshift 0.00000835●●●●●●
3118. 228467563 c.7438delG p.Arg2481ValfsTer36 frameshift 0.00001911●●●●●●
3119. 228467647 c.7522_7523delCT p.Leu2508ValfsTer4 frameshift 0.00002370●●●●●●
3120. 228467655 c.7530_7533delCTCT p.Ser2511ArgfsTer5 frameshift 0.00002330●●●●●●
3121. 228467717 c.7592_7595delTGCC p.Pro2532LeufsTer26 frameshift 0.00001512●●●●●●
3122. 228468361 c.8061delC p.Ser2689ValfsTer20 frameshift 0.00000833●●●●●●
3123. 228468388 c.8088_8089insA p.Thr2697AsnfsTer11 frameshift 0.00003365●●●●●●
3124. 228475805 c.9855_9856insA p.Thr3286AsnfsTer11 frameshift 0.00000829●●●●●●
3125. 228475978 c.10028_10029insGT p.Gly3347ValfsTer20 frameshift 0.00000832●●●●●●
3126. 228476504 c.10254delG p.Ile3419SerfsTer27 frameshift 0.00005797●●●●●●
3127. 228476545 c.10295_10299delGTGTG p.Cys3432LeufsTer26 frameshift 0.00001656●●●●●●
3128. 228476558 c.10308_10309delGG p.Arg3438AspfsTer21 frameshift 0.00000828●●●●●●
3129. 228479784 c.10525delG p.Gly3509AlafsTer33 frameshift 0.00000828●●●●●●
3130. 228479858 c.10599_10601delCAGinsCG p.Arg3534GlyfsTer8 frameshift 0.00001656●●●●●●
3131. 228479859 c.10600_10601delAG p.Arg3534GlyfsTer26 frameshift 0.00000828●●●●●●
3132. 228480484 c.10864_10865delAG p.Arg3622GlyfsTer26 frameshift 0.00001656●●●●●●
3133. 228481314 c.11128_11129delAG p.Arg3710GlyfsTer13 frameshift 0.00000850●●●●●●
3134. 228481314 c.11128delA p.Arg3710GlyfsTer8 frameshift 0.00000850●●●●●●
3135. 228482113 c.11392delA p.Arg3798GlyfsTer8 frameshift 0.00000828●●●●●●
3136. 228482113 c.11392_11393delAG p.Arg3798GlyfsTer26 frameshift 0.00000828●●●●●●
3137. 228482506 c.11421_11422delTG p.Val3808GlufsTer16 frameshift 0.00000831●●●●●●
3138. 228482631 c.11546delG p.Arg3849SerfsTer154 frameshift 0.00000828●●●●●●
3139. 228482734 c.11649_11650insA p.Thr3884AsnfsTer29 frameshift 0.00000828●●●●●●
3140. 228482741 c.11656_11657delAG p.Arg3886GlyfsTer26 frameshift 0.00000828●●●●●●
3141. 228494170 c.11757_11758insGT p.Val3921TrpfsTer83 frameshift 0.00004455●●●●●●
3142. 228494209 c.11796delT p.Asn3932LysfsTer71 frameshift 0.00001742●●●●●●
3143. 228495187 c.12421_12424delTGTG p.Cys4141Ter frameshift 0.00002156●●●●●●
3144. 228496077 c.12732_12733insG p.Val4245GlyfsTer5 frameshift 0.00002397●●●●●●
3145. 228505176 c.13573delC p.Pro4526GlnfsTer14 frameshift 0.00000874●●●●●●
3146. 228505224 c.13621_13622delCT p.Leu4541ValfsTer8 frameshift 0.00010086●●●●●●
3147. 228505361 c.13758delG p.Ala4587ProfsTer95 frameshift 0.00005061●●●●●●
3148. 228505445 c.13842_13843delGC p.Arg4615AlafsTer16 frameshift 0.00002580●●●●●●
3149. 228505634 c.13891delG p.Glu4631ArgfsTer51 frameshift 0.00000845●●●●●●
3150. 228506855 c.14402_14403delCA p.Thr4803GlnfsTer3 frameshift 0.00003824●●●●●●
3151. 228509236 c.14694_14695insA p.Met4899AsnfsTer67 frameshift 0.00003528●●●●●●
3152. 228509266 c.14724delG p.Ala4909HisfsTer24 frameshift 0.00000856●●●●●●
3153. 228509767 c.15225delC p.Gln5076ArgfsTer23 frameshift 0.00000957●●●●●●
3154. 228522956 c.16362_16363insGC p.Gly5456ProfsTer24 frameshift 0.00007528●●●●●●
3155. 228525737 c.16893delC p.Leu5632TrpfsTer63 frameshift 0.00000901●●●●●●
3156. 228526004 c.17015dupG p.Ala5674GlyfsTer3 frameshift 0.00007015●●●●●●
3157. 228526004 c.17015delG p.Ala5674ProfsTer21 frameshift 0.00004209●●●●●●
3158. 228526041 c.17052_17053delTG p.Ser5686Ter frameshift 0.00001354●●●●●●
3159. 228537735 c.18293delC p.Leu6099TrpfsTer13 frameshift 0.00004964●●●●●●
3160. 228547505 c.18912delT p.Tyr6304Ter frameshift 0.00001531●●●●●●
3161. 228547545 c.18952_18953delCT p.Ser6319GlyfsTer14 frameshift 0.00001586●●●●●●
3162. 228547555 c.18962_18965delCCCA p.Pro6321ArgfsTer15 frameshift 0.00001584●●●●●●
3163. 228547613 c.19020delC p.Pro6341ArgfsTer99 frameshift 0.00003787●●●●●●
3164. 228547776 c.19183_19186delAGAG p.Arg6395SerfsTer44 frameshift 0.00004233●●●●●●
3165. 228547853 c.19260delG p.Glu6421ArgfsTer19 frameshift 0.00000962●●●●●●
3166. 228547951 c.19358_19359insC p.Lys6455GlnfsTer14 frameshift 0.00001674●●●●●●
3167. 228548129 c.19536_19539delTGTG p.Val6513CysfsTer220 frameshift 0.00003491●●●●●●
3168. 228548192 c.19599delG p.Glu6533AspfsTer201 frameshift 0.00000970●●●●●●
3169. 228548217 c.19624delC p.Gln6543ArgfsTer191 frameshift 0.00000987●●●●●●
3170. 228548391 c.19798_19799insC p.Val6600AlafsTer17 frameshift 0.00001887●●●●●●
3171. 228548393 c.19800delG p.Glu6602ArgfsTer132 frameshift 0.00001890●●●●●●
3172. 228400262 c.778_779insACG p.Y260delinsYD inframe 0.00034349●●●●●●
3173. 228399615 c.131_133delAGA p.Lys45del inframe 0.00015348●●●●●●
3174. 228400211 c.727_728insGCACGCGCACCT p.Gly243_Thr244insThrArgThrCys inframe 0.00002990●●●●●●
3175. 228400356 c.872_874delAGG p.Glu292del inframe 0.00001712●●●●●●
3176. 228404742 c.2406_2408delGGC p.Ala803del inframe 0.00000850●●●●●●
3177. 228412272 c.2766_2768delGTG p.Trp923del inframe 0.00000828●●●●●●
3178. 228444621 c.4579_4584delGTGGCA p.Val1527_Ala1528del inframe 0.00000838●●●●●●
3179. 228462456 c.5867_5868insCAT p.Thr1956_Ile1957insIle inframe 0.00000999●●●●●●
3180. 228469716 c.8280_8282delCCA p.His2761del inframe 0.00000834●●●●●●
3181. 228469853 c.8417_8418insGGT p.Glu2806_Val2807insVal inframe 0.00000852●●●●●●
3182. 228475498 c.9648_9650delGTG p.Trp3217del inframe 0.00000830●●●●●●
3183. 228475797 c.9847_9849delAAG p.Lys3283del inframe 0.00000829●●●●●●
3184. 228479666 c.10407_10409delGTG p.Trp3470del inframe 0.00000829●●●●●●
3185. 228494800 c.12125_12127delAGG p.Glu4043del inframe 0.00003324●●●●●●
3186. 228495161 c.12395_12396insGGC p.Glu4132_Ala4133insAla inframe 0.00001637●●●●●●
3187. 228503701 c.13166_13168delTCT p.Phe4391del inframe 0.00001669●●●●●●
3188. 228528448 c.17556_17564delGAACAGACA p.Asn5853_Gln5855del inframe 0.00000970●●●●●●
3189. 228529167 c.17886_17888delGGA p.Glu5963del inframe 0.00000869●●●●●●

* 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.