TTN variants in ExAC


The table below lists the TTN 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 frequencyPopulations*
1. 179621477 c.10726G>A p.A3576T missense 0.99968490
2. 179444768 c.67246G>C p.A22416P missense 0.99862487
3. 179644035 c.3884C>T p.S1295L missense 0.96057697
4. 179642425 c.4480+6C>T splice site 0.95877028
5. 179623758 c.10256G>A p.S3419N missense 0.85117272
6. 179620951 c.11252G>A p.G3751D missense 0.85080113
7. 179629461 c.9781G>A p.V3261M missense 0.85001731
8. 179644855 c.3601A>G p.K1201E missense 0.69444399
9. 179554305 c.31864G>A p.G10622R missense 0.39948200
10. 179406003 c.97795+6G>T splice site 0.38296669
11. 179464527 c.56101A>G p.N18701D missense 0.35535376
12. 179558366 c.31564A>G p.I10522V missense 0.35363728
13. 179427536 c.83323A>G p.I27775V missense 0.35358661
14. 179451420 c.64208C>T p.T21403I missense 0.35088840
15. 179421694 c.88187T>C p.I29396T missense 0.35060367
16. 179585393 c.23099-3T>C splice site 0.32315554
17. 179582537 c.25064C>A p.A8355E missense 0.30876983
18. 179444939 c.67075G>A p.V22359I missense 0.24199386
19. 179432185 c.78674T>C p.I26225T missense 0.23680490
20. 179545859 c.33287G>A p.R11096H missense 0.23472974
21. 179430997 c.79862C>T p.T26621M missense 0.23430820
22. 179606538 c.11422C>T p.P3808S missense 0.18877877
23. 179404786 c.98098+9T>A splice site 0.18308465
24. 179579093 c.26408A>G p.N8803S missense 0.17930085
25. 179587130 c.22384G>C p.D7462H missense 0.17860474
26. 179582327 c.25274G>A p.S8425N missense 0.17836272
27. 179406191 c.97613G>A p.R32538H missense 0.17782218
28. 179457147 c.59585C>T p.P19862L missense 0.17678385
29. 179583496 c.24431A>C p.E8144A missense 0.17662534
30. 179458591 c.58436G>A p.R19479H missense 0.17610566
31. 179397561 c.103781G>A p.R34594H missense 0.17534783
32. 179436020 c.74839C>T p.R24947C missense 0.17455999
33. 179650408 c.2432C>T p.T811I missense 0.16907050
34. 179528378 c.36508G>A p.E12170K missense 0.14758806
35. 0 c.26762-14_26762-10dupTTTGT splice site 0.14286640
36. 179659912 c.982C>T p.R328C missense 0.12379053
37. 179600648 c.14525G>A p.R4842K missense 0.09585600
38. 179414318 c.92131G>A p.V30711M missense 0.09056139
39. 179498042 c.42958A>G p.K14320E missense 0.08302503
40. 179408713 c.96158T>C p.I32053T missense 0.08082230
41. 179571448 c.29153T>C p.I9718T missense 0.07969968
42. 179580210 c.25921+10C>T splice site 0.07605923
43. 179634936 c.8492G>A p.S2831N missense 0.07593810
44. 179578704 c.26681C>T p.P8894L missense 0.07510496
45. 179438866 c.71993G>A p.R23998H missense 0.07443806
46. 179604366 c.13594A>C p.T4532P missense 0.07227376
47. 179604160 c.13800A>C p.L4600F missense 0.07225549
48. 179637861 c.7830G>C p.M2610I missense 0.07135397
49. 179641975 c.4715G>A p.R1572Q missense 0.07111511
50. 179593352 c.19301G>A p.S6434N missense 0.06986004
51. 179403750 c.98912G>A p.R32971H missense 0.06803364
52. 179632496 c.9461A>G p.K3154R missense 0.06588968
53. 179638721 c.7174G>A p.G2392S missense 0.06532025
54. 179589241 c.20861C>T p.A6954V missense 0.05105354
55. 179575511 c.28313G>A p.R9438Q missense 0.04511639
56. 179393111 c.107267T>C p.V35756A missense 0.04465902
57. 179434516 c.76343G>A p.S25448N missense 0.04127000
58. 179395560 c.105782C>T p.P35261L missense 0.04012468
59. 179581835 c.25626G>T p.Q8542H missense 0.03971046
60. 179398509 c.102833G>T p.G34278V missense 0.03919358
61. 179396162 c.105180G>C p.E35060D missense 0.03781102
62. 179474668 c.51482C>T p.A17161V missense 0.03465166
63. 179529273 c.36203-9T>C splice site 0.03397272
64. 179414162 c.92191A>G p.I30731V missense 0.03133832
65. 179400895 c.100579G>A p.V33527I missense 0.03121425
66. 179515483 c.39704C>G p.P13235R missense 0.03057613
67. 179444289 c.67635T>C p.V22545V splice site 0.03054708
68. 179586604 c.22786G>C p.D7596H missense 0.02978453
69. 179472292 c.53123A>T p.K17708I missense 0.02915851
70. 179499530 c.42071A>G p.H14024R missense 0.02912372
71. 179401740 c.100096G>A p.V33366I missense 0.02881643
72. 179414705 c.91852+8T>A splice site 0.02756241
73. 179528068 c.36625G>T p.V12209L missense 0.02690832
74. 179431594 c.79265T>C p.I26422T missense 0.02625571
75. 179434139 c.76720T>C p.Y25574H missense 0.02621212
76. 179411011 c.95047A>G p.S31683G missense 0.02619020
77. 179433221 c.77638A>G p.T25880A missense 0.02617932
78. 179433580 c.77279A>G p.N25760S missense 0.02615763
79. 179449131 c.65147C>T p.S21716L missense 0.02563826
80. 179404628 c.98164A>T p.I32722F missense 0.02511351
81. 179582853 c.24880A>G p.R8294G missense 0.02104589
82. 179497018 c.43603C>T p.R14535C missense 0.02098099
83. 179527095 c.37009C>T p.P12337S missense 0.02018512
84. 179569387 c.29812A>T p.T9938S missense 0.01988002
85. 179605725 c.12235A>G p.I4079V missense 0.01788468
86. 179579977 c.25936C>T p.R8646C missense 0.01672862
87. 179589058 c.21044C>T p.A7015V missense 0.01645098
88. 179477267 c.49985A>C p.N16662T missense 0.01604264
89. 179528038 c.36655T>G p.L12219V missense 0.01497981
90. 179446381 c.66614G>A p.R22205K missense 0.01494800
91. 179658175 c.1492G>A p.V498I missense 0.01483721
92. 179431076 c.79783G>C p.D26595H missense 0.01477971
93. 179560847 c.30952G>A p.E10318K missense 0.01455668
94. 179634961 c.8467G>T p.V2823F missense 0.01442957
95. 179393859 c.106619T>C p.I35540T missense 0.01422636
96. 179621503 c.10700G>A p.S3567N missense 0.01405498
97. 179395573 c.105769G>A p.E35257K missense 0.01393838
98. 179666982 c.178G>T p.D60Y missense 0.01389370
99. 179472223 c.53192T>C p.I17731T missense 0.01368524
100. 179396766 c.104576G>A p.R34859Q missense 0.01295143
101. 179401742 c.100094G>A p.R33365Q missense 0.01276770
102. 179549131 c.32648G>A p.R10883K missense 0.01241056
103. 179643632 c.4177A>G p.I1393V missense 0.01217193
104. 179590329 c.20602G>A p.G6868R missense 0.01159570
105. 179540461 c.34474C>A p.P11492T missense 0.01142355
106. 179395554 c.105788C>T p.A35263V missense 0.01138267
107. 179395555 c.105787G>T p.A35263S missense 0.01134253
108. 179482089 c.47723G>A p.R15908H missense 0.01129503
109. 179582063 c.25398T>A p.D8466E missense 0.01122093
110. 179642589 c.4322G>C p.R1441P missense 0.01113001
111. 179544688 c.33513_33515dupAGA p.Glu11171dup inframe 0.01100754
112. 179441917 c.69145A>G p.I23049V missense 0.01078367
113. 179440163 c.70696G>C p.G23566R missense 0.01064959
114. 179599667 c.14984C>G p.P4995R missense 0.01061990
115. 179416659 c.90968G>A p.R30323K missense 0.01060021
116. 179412452 c.93901G>A p.V31301I missense 0.01059122
117. 179428061 c.82798G>A p.A27600T missense 0.01055882
118. 179515472 c.39709+6C>T splice site 0.01027222
119. 179410282 c.95555T>C p.L31852P missense 0.01025934
120. 179628918 c.10100G>A p.R3367Q missense 0.00996341
121. 179643775 c.4034G>A p.G1345D missense 0.00993169
122. 179393691 c.106787C>T p.T35596I missense 0.00979222
123. 179453429 c.63023C>T p.T21008I missense 0.00940137
124. 179449186 c.65092C>T p.R21698C missense 0.00882602
125. 179549048 c.32722+9G>A splice site 0.00858485
126. 179486223 c.45328G>A p.D15110N missense 0.00758372
127. 179486478 c.45083-10A>G splice site 0.00757325
128. 179441295 c.69676A>G p.S23226G missense 0.00752198
129. 179528807 c.36299A>T p.E12100V missense 0.00742622
130. 179605991 c.11969C>T p.P3990L missense 0.00704167
131. 179595372 c.17888A>G p.E5963G missense 0.00698095
132. 179414992 c.91573A>G p.I30525V missense 0.00689486
133. 179399576 c.101766G>C p.Q33922H missense 0.00682141
134. 179585312 c.23177C>T p.S7726L missense 0.00667850
135. 179621272 c.10931G>A p.S3644N missense 0.00662533
136. 179517605 c.38929C>T p.P12977S missense 0.00650484
137. 179641360 c.5231C>T p.P1744L missense 0.00633904
138. 179659815 c.1079G>C p.R360T missense 0.00619695
139. 179582760 c.24973A>G p.K8325E missense 0.00613807
140. 179596554 c.17048A>G p.Y5683C missense 0.00584824
141. 179486345 c.45206A>T p.E15069V missense 0.00580029
142. 179400130 c.101212C>T p.R33738C missense 0.00564312
143. 179597600 c.16303G>A p.V5435M missense 0.00563633
144. 179458601 c.58433-7dupT splice site 0.00558596
145. 179665163 c.542G>A p.S181N missense 0.00553010
146. 179426507 c.84352C>T p.R28118C missense 0.00552799
147. 179407637 c.96944C>T p.T32315I missense 0.00550895
148. 179427803 c.83056G>A p.V27686I missense 0.00549132
149. 179428901 c.81958G>A p.A27320T missense 0.00547757
150. 179605380 c.12580A>T p.I4194F missense 0.00546489
151. 179642162 c.4630A>G p.I1544V missense 0.00526817
152. 179479607 c.48727C>T p.P16243S missense 0.00523868
153. 179621353 c.10850C>T p.S3617F missense 0.00518061
154. 179588996 c.21106G>A p.D7036N missense 0.00517990
155. 179428474 c.82385C>A p.T27462K missense 0.00513968
156. 179549407 c.32624C>T p.P10875L missense 0.00505816
157. 179642665 c.4246C>T p.R1416C missense 0.00499229
158. 179396782 c.104560G>C p.V34854L missense 0.00496955
159. 179593449 c.19204A>G p.M6402V missense 0.00487614
160. 179579256 c.26245G>A p.V8749I missense 0.00480597
161. 179437928 c.72931A>G p.T24311A missense 0.00479296
162. 179480360 c.48460+8C>T splice site 0.00479096
163. 179447787 c.65743C>A p.Q21915K missense 0.00469653
164. 179435887 c.74972T>C p.I24991T missense 0.00466933
165. 179486037 c.45408G>T p.K15136N missense 0.00464794
166. 179587955 c.21779C>A p.S7260Y missense 0.00448954
167. 179477529 c.49919G>C p.S16640T missense 0.00446123
168. 179430224 c.80635C>A p.Q26879K missense 0.00444858
169. 179594059 c.18824A>G p.N6275S missense 0.00444541
170. 179604101 c.13859G>A p.G4620D missense 0.00443139
171. 179539812 c.34566A>C p.E11522D missense 0.00441114
172. 179632598 c.9359G>A p.R3120Q missense 0.00439580
173. 179399451 c.101891G>A p.R33964H missense 0.00438225
174. 179404402 c.98390A>G p.N32797S missense 0.00435806
175. 179585257 c.23232C>G p.N7744K missense 0.00435636
176. 179642583 c.4328T>C p.L1443P missense 0.00435055
177. 179399539 c.101803A>G p.I33935V missense 0.00432611
178. 179448393 c.65516C>T p.A21839V missense 0.00432150
179. 179482533 c.47545C>A p.P15849T missense 0.00431658
180. 179581971 c.25490G>A p.R8497H missense 0.00430598
181. 179577998 c.26863A>G p.I8955V missense 0.00429957
182. 179591917 c.20175A>G p.I6725M missense 0.00428379
183. 179584831 c.23538C>G p.F7846L missense 0.00428074
184. 179449579 c.64789G>A p.V21597M missense 0.00426740
185. 179414800 c.91765G>A p.A30589T missense 0.00426699
186. 179410666 c.95297C>T p.S31766F missense 0.00426040
187. 179398747 c.102595A>G p.I34199V missense 0.00425274
188. 179600408 c.14765G>A p.S4922N missense 0.00421481
189. 179428299 c.82560C>A p.N27520K missense 0.00415099
190. 179416801 c.90826T>G p.C30276G missense 0.00414938
191. 179567340 c.30274C>T p.H10092Y missense 0.00414319
192. 179417091 c.90536G>A p.R30179H missense 0.00411362
193. 179458601 c.58433-7delT splice site 0.00410460
194. 179404550 c.98242C>T p.R32748C missense 0.00404482
195. 179592329 c.19976C>T p.T6659M missense 0.00394699
196. 179567398 c.30224-8T>G splice site 0.00392632
197. 179659891 c.1003G>A p.V335M missense 0.00391378
198. 179455352 c.61100G>A p.R20367Q missense 0.00382683
199. 179455631 c.60821C>T p.P20274L missense 0.00376577
200. 179406044 c.97760G>A p.R32587H missense 0.00373965
201. 179537200 c.34864G>A p.V11622I missense 0.00367635
202. 179401015 c.100459C>T p.P33487S missense 0.00357143
203. 179599473 c.15178G>C p.V5060L missense 0.00351416
204. 179659118 c.1398+8C>T splice site 0.00350088
205. 179422181 c.87808G>A p.V29270I missense 0.00348851
206. 179552895 c.32254G>A p.V10752I missense 0.00348677
207. 179606241 c.11719C>G p.L3907V missense 0.00342352
208. 179600475 c.14698G>A p.A4900T missense 0.00341936
209. 179441932 c.69130C>T p.P23044S missense 0.00340210
210. 179512101 c.40141+7G>A splice site 0.00340177
211. 179398195 c.103147G>C p.E34383Q missense 0.00333748
212. 179486376 c.45175G>A p.A15059T missense 0.00332453
213. 179399677 c.101665G>A p.V33889I missense 0.00331142
214. 179517230 c.39082G>A p.V13028M missense 0.00325434
215. 179603991 c.13969A>C p.N4657H missense 0.00321098
216. 179437034 c.73825G>C p.E24609Q missense 0.00318015
217. 179600303 c.14870C>G p.T4957S missense 0.00315272
218. 179418415 c.89317A>T p.I29773L missense 0.00308662
219. 179395813 c.105529G>A p.V35177M missense 0.00308018
220. 179593503 c.19150C>A p.P6384T missense 0.00306354
221. 179536955 c.34970G>A p.R11657H missense 0.00306230
222. 179482763 c.47315G>A p.R15772Q missense 0.00304639
223. 179427796 c.83063G>A p.R27688H missense 0.00301494
224. 179594107 c.18776C>G p.T6259S missense 0.00298440
225. 179593761 c.19004A>G p.D6335G missense 0.00296061
226. 179411207 c.94851T>A p.D31617E missense 0.00291282
227. 179458694 c.58426G>A p.V19476I missense 0.00290389
228. 179595528 c.17741-9A>G splice site 0.00288901
229. 179428778 c.82081C>G p.P27361A missense 0.00285889
230. 179404498 c.98294C>G p.A32765G missense 0.00283422
231. 179542392 c.34247_34249delAAG p.Glu11416del inframe 0.00282770
232. 179599473 c.15178G>A p.V5060I missense 0.00273324
233. 179419792 c.88394C>T p.S29465F missense 0.00272915
234. 179454530 c.61922G>A p.R20641Q missense 0.00271910
235. 179639711 c.6727G>T p.D2243Y missense 0.00271591
236. 179441148 c.69716-5C>G splice site 0.00267165
237. 179541999 c.34307A>G p.K11436R missense 0.00254130
238. 179441119 c.69740C>T p.P23247L missense 0.00251454
239. 179414177 c.92176C>T p.P30726S missense 0.00248375
240. 179545796 c.33340+10T>C splice site 0.00243478
241. 179549707 c.32480C>T p.A10827V missense 0.00242415
242. 179396965 c.104377A>C p.M34793L missense 0.00241208
243. 179540430 c.34505G>T p.G11502V missense 0.00234742
244. 179396568 c.104774A>C p.E34925A missense 0.00234053
245. 179528377 c.36509A>T p.E12170V missense 0.00232952
246. 179559353 c.31399G>A p.V10467I missense 0.00231783
247. 179431541 c.79318C>T p.R26440C missense 0.00230376
248. 179482994 c.47191C>T p.R15731C missense 0.00224945
249. 179392277 c.107576T>C p.M35859T missense 0.00224486
250. 179597259 c.16529A>G p.Y5510C missense 0.00223950
251. 179456220 c.60232G>A p.V20078M missense 0.00217263
252. 179439154 c.71705T>C p.I23902T missense 0.00215496
253. 179656928 c.1537-4G>A splice site 0.00215473
254. 179645962 c.3409G>C p.G1137R missense 0.00211563
255. 179666871 c.289G>A p.V97M missense 0.00208433
256. 179528759 c.36347A>G p.E12116G missense 0.00207045
257. 179586756 c.22634G>A p.R7545Q missense 0.00202628
258. 179550287 c.32350C>G p.L10784V missense 0.00199898
259. 179452021 c.63917G>A p.R21306H missense 0.00198785
260. 179582913 c.24820G>A p.E8274K missense 0.00198003
261. 179472319 c.53096G>A p.R17699H missense 0.00197694
262. 179442784 c.68458G>C p.A22820P missense 0.00196108
263. 179453426 c.63026G>A p.R21009Q missense 0.00195179
264. 179510640 c.40408+7_40408+10dupAATG splice site 0.00194920
265. 179583957 c.24160A>T p.I8054L missense 0.00194410
266. 179416989 c.90638T>C p.I30213T missense 0.00193924
267. 179530473 c.35921T>C p.M11974T missense 0.00193798
268. 179544055 c.33742+11A>G splice site 0.00192564
269. 179596181 c.17312C>G p.T5771S missense 0.00190985
270. 179462345 c.57464G>A p.R19155K missense 0.00184154
271. 179422112 c.87877C>T p.R29293C missense 0.00183915
272. 179528017 c.36676A>G p.K12226E missense 0.00183635
273. 179428370 c.82489G>A p.G27497R missense 0.00179805
274. 179412307 c.94046G>A p.R31349H missense 0.00179268
275. 179529457 c.36126A>C p.E12042D missense 0.00178971
276. 179640598 c.5993G>A p.R1998H missense 0.00175647
277. 179424176 c.86683G>A p.V28895M missense 0.00174921
278. 179641951 c.4739C>T p.T1580M missense 0.00173889
279. 179650675 c.2270C>T p.P757L missense 0.00172243
280. 179588813 c.21173G>A p.G7058D missense 0.00170849
281. 179571595 c.29128G>A p.V9710I missense 0.00170675
282. 179469715 c.54189T>C p.Y18063Y splice site 0.00169004
283. 179438746 c.72113C>T p.T24038M missense 0.00168370
284. 179425453 c.85406C>G p.S28469C missense 0.00166633
285. 179434120 c.76739C>T p.T25580M missense 0.00166083
286. 179422286 c.87707-4G>T splice site 0.00165843
287. 179634424 c.8884G>C p.A2962P missense 0.00165340
288. 179591945 c.20147T>A p.M6716K missense 0.00161116
289. 179482937 c.47248G>A p.V15750I missense 0.00156841
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872. 179404187 c.98605C>T p.R32869C missense 0.00018229
873. 179472259 c.53156T>C p.V17719A missense 0.00018227
874. 179422458 c.87623A>T p.Y29208F missense 0.00018218
875. 179539086 c.34663_34665delGAA p.Glu11555del inframe 0.00018190
876. 179474446 c.51704G>A p.R17235Q missense 0.00018187
877. 179639725 c.6713C>T p.T2238M missense 0.00018157
878. 179654748 c.1895G>A p.G632D missense 0.00018139
879. 179460273 c.57808G>C p.V19270L missense 0.00018068
880. 179582535 c.25066C>T p.R8356C missense 0.00017938
881. 179576710 c.27847G>A p.V9283M missense 0.00017852
882. 179563611 c.30713A>G p.K10238R missense 0.00017671
883. 179440955 c.69904G>A p.V23302I missense 0.00017657
884. 179393523 c.106955G>A p.R35652Q missense 0.00017627
885. 179486596 c.45053C>A p.A15018E missense 0.00017584
886. 179485269 c.45979C>T p.R15327C missense 0.00017527
887. 179442521 c.68632G>A p.V22878M missense 0.00017515
888. 179595442 c.17818T>C p.C5940R missense 0.00017509
889. 179425438 c.85421G>A p.R28474H missense 0.00017503
890. 179556761 c.31744C>T p.P10582S missense 0.00017482
891. 179411522 c.94633C>T p.R31545C missense 0.00017468
892. 179446666 c.66430G>A p.A22144T missense 0.00017460
893. 179457330 c.59402G>A p.G19801D missense 0.00017455
894. 179433011 c.77848C>T p.L25950F missense 0.00017440
895. 179605779 c.12181G>A p.A4061T missense 0.00017416
896. 179413657 c.92696T>C p.I30899T missense 0.00017403
897. 179498717 c.42509T>C p.M14170T missense 0.00017402
898. 179641277 c.5314A>G p.S1772G missense 0.00017333
899. 179640428 c.6163G>A p.E2055K missense 0.00017319
900. 179474015 c.52022G>A p.R17341Q missense 0.00017032
901. 179579280 c.26221A>G p.K8741E missense 0.00016889
902. 179549628 c.32554+5_32554+6delAT splice site 0.00016837
903. 179463271 c.57073G>A p.V19025I missense 0.00016755
904. 179446322 c.66673G>A p.D22225N missense 0.00016713
905. 179543213 c.33838C>T p.P11280S missense 0.00016678
906. 179481351 c.48167C>T p.P16056L missense 0.00016670
907. 179423251 c.86935G>A p.V28979I missense 0.00016630
908. 179433557 c.77302C>A p.L25768I missense 0.00016622
909. 179476314 c.50642G>C p.G16881A missense 0.00016617
910. 179438858 c.72001G>A p.A24001T missense 0.00016599
911. 179446710 c.66386G>A p.R22129H missense 0.00016598
912. 179403936 c.98726T>C p.V32909A missense 0.00016593
913. 179397429 c.103913G>A p.R34638H missense 0.00016578
914. 179457198 c.59534G>A p.R19845H missense 0.00016577
915. 179605559 c.12401T>A p.I4134N missense 0.00016574
916. 179622410 c.10537T>C p.F3513L missense 0.00016573
917. 179425744 c.85115G>A p.G28372E missense 0.00016570
918. 179404292 c.98500G>A p.E32834K missense 0.00016564
919. 179642620 c.4291C>T p.R1431W missense 0.00016545
920. 179438501 c.72358C>T p.L24120F missense 0.00016527
921. 179645848 c.3523G>A p.A1175T missense 0.00016526
922. 179597157 c.16621+10G>A splice site 0.00016515
923. 179664437 c.691G>A p.A231T missense 0.00016482
924. 179629334 c.9908C>T p.P3303L missense 0.00016481
925. 179666894 c.266C>G p.A89G missense 0.00016475
926. 179581824 c.25637A>G p.Q8546R missense 0.00016465
927. 179443336 c.68329+2_68329+3insTT splice site 0.00016461
928. 179571683 c.29042-2A>C essential splice site 0.00016130
929. 179559362 c.31390C>T p.R10464W missense 0.00016130
930. 179560643 c.31156G>A p.E10386K missense 0.00016113
931. 179458351 c.58676T>A p.L19559Q missense 0.00016108
932. 179429577 c.81282T>G p.H27094Q missense 0.00016099
933. 179447277 c.65906A>G p.Y21969C missense 0.00015990
934. 179596668 c.16934C>T p.P5645L missense 0.00015977
935. 179669357 c.13G>A p.A5T missense 0.00015965
936. 179510660 c.40395A>G p.I13465M missense 0.00015941
937. 179436295 c.74564C>T p.T24855I missense 0.00015910
938. 179478653 c.49357C>A p.P16453T missense 0.00015884
939. 179576035 c.27928G>A p.V9310I missense 0.00015852
940. 179621281 c.10922T>C p.I3641T missense 0.00015838
941. 179497119 c.43502C>G p.T14501S missense 0.00015836
942. 179495039 c.44210G>A p.R14737H missense 0.00015814
943. 179472908 c.52702A>G p.I17568V missense 0.00015807
944. 179444479 c.67445G>A p.R22482Q missense 0.00015781
945. 179576016 c.27947T>G p.L9316R missense 0.00015771
946. 179514603 c.39836_39838delAGA p.Lys13279del inframe 0.00015758
947. 179394750 c.106468T>C p.Y35490H missense 0.00015756
948. 179393658 c.106820C>T p.A35607V missense 0.00015756
949. 179405034 c.97859C>T p.A32620V missense 0.00015750
950. 179408636 c.96235G>A p.D32079N missense 0.00015747
951. 179403853 c.98809A>G p.K32937E missense 0.00015744
952. 179414059 c.92294G>C p.R30765T missense 0.00015744
953. 179553804 c.32071G>A p.A10691T missense 0.00015741
954. 179547459 c.33059A>G p.Y11020C missense 0.00015740
955. 179395221 c.106121T>A p.F35374Y missense 0.00015736
956. 179628969 c.10049C>T p.P3350L missense 0.00015673
957. 179597812 c.16091G>A p.R5364H missense 0.00015603
958. 179566792 c.30513A>T p.E10171D missense 0.00015595
959. 179469744 c.54160G>C p.V18054L missense 0.00015549
960. 179577926 c.26935A>C p.N8979H missense 0.00015257
961. 179421869 c.88012C>T p.P29338S missense 0.00015251
962. 179501481 c.40973A>G p.K13658R missense 0.00015248
963. 179576049 c.27914G>A p.R9305Q missense 0.00015197
964. 179574305 c.28741A>G p.I9581V missense 0.00015159
965. 179431963 c.78896T>A p.V26299D missense 0.00015158
966. 179427241 c.83618T>C p.V27873A missense 0.00015075
967. 179669327 c.43G>A p.V15I missense 0.00015050
968. 179441959 c.69103G>A p.V23035I missense 0.00015036
969. 179436865 c.73994C>T p.T24665M missense 0.00015009
970. 179432428 c.78431T>C p.I26144T missense 0.00014992
971. 179434186 c.76673A>T p.D25558V missense 0.00014990
972. 179439018 c.71841G>C p.K23947N missense 0.00014978
973. 179460425 c.57656A>T p.Y19219F missense 0.00014975
974. 179446705 c.66391A>G p.T22131A missense 0.00014940
975. 179413847 c.92506A>C p.T30836P missense 0.00014932
976. 179489991 c.44548+9A>G splice site 0.00014929
977. 179458723 c.58397G>C p.G19466A missense 0.00014928
978. 179600640 c.14533G>A p.D4845N missense 0.00014927
979. 179605413 c.12547A>G p.K4183E missense 0.00014926
980. 179425768 c.85091G>A p.R28364Q missense 0.00014914
981. 179419389 c.88685G>A p.G29562D missense 0.00014911
982. 179659708 c.1186G>T p.A396S missense 0.00014895
983. 179664628 c.593_595delAAG p.E198_V199delinsV inframe 0.00014894
984. 179631324 c.9487C>T p.R3163C missense 0.00014890
985. 179623770 c.10244C>T p.T3415M missense 0.00014841
986. 179482072 c.47740G>C p.V15914L missense 0.00014837
987. 179580479 c.25662G>T p.K8554N missense 0.00014829
988. 179659121 c.1398+5G>A splice site 0.00014826
989. 179470136 c.53881+5G>A splice site 0.00014649
990. 179587646 c.21980C>T p.T7327M missense 0.00014572
991. 179468618 c.54796G>T p.A18266S missense 0.00014503
992. 179528435 c.36451C>T p.P12151S missense 0.00014475
993. 179468924 c.54490T>C p.Y18164H missense 0.00014390
994. 179560942 c.30857T>C p.I10286T missense 0.00014351
995. 179597847 c.16056T>C p.D5352D splice site 0.00014323
996. 179446292 c.66703G>A p.V22235I missense 0.00014283
997. 179477577 c.49871G>A p.R16624Q missense 0.00014278
998. 179556738 c.31762+5_31762+7delGCC splice site 0.00014268
999. 179484593 c.46451G>A p.R15484K missense 0.00014233
1000. 179477040 c.50212G>A p.E16738K missense 0.00014231
1001. 179489408 c.44599G>A p.G14867R missense 0.00014207
1002. 179558721 c.31441A>G p.T10481A missense 0.00014184
1003. 179407792 c.96904+4T>C splice site 0.00014178
1004. 179486283 c.45268C>A p.Q15090K missense 0.00014158
1005. 179484555 c.46489G>T p.V15497F missense 0.00014154
1006. 179458451 c.58576G>A p.V19526I missense 0.00014149
1007. 179500810 c.41488G>A p.V13830I missense 0.00014141
1008. 179581897 c.25564G>A p.D8522N missense 0.00014137
1009. 179396751 c.104591C>T p.P34864L missense 0.00014134
1010. 179437342 c.73517G>A p.G24506D missense 0.00014132
1011. 179436158 c.74701G>A p.V24901I missense 0.00014125
1012. 179544688 c.33513_33515delAGA p.Glu11172del inframe 0.00014123
1013. 179412308 c.94045C>T p.R31349C missense 0.00014108
1014. 179604141 c.13819A>G p.M4607V missense 0.00014100
1015. 179435999 c.74860C>T p.L24954F missense 0.00014098
1016. 179413099 c.93254C>T p.P31085L missense 0.00014091
1017. 179594423 c.18557C>T p.T6186M missense 0.00014088
1018. 179419341 c.88733G>A p.R29578H missense 0.00014087
1019. 179427958 c.82901C>T p.T27634I missense 0.00014087
1020. 179431774 c.79085T>C p.M26362T missense 0.00014086
1021. 179430596 c.80263T>C p.F26755L missense 0.00014083
1022. 179596945 c.16751T>A p.I5584N missense 0.00014083
1023. 179399221 c.102121G>A p.E34041K missense 0.00014080
1024. 179643760 c.4049G>A p.R1350H missense 0.00014048
1025. 179640101 c.6490G>A p.A2164T missense 0.00014022
1026. 179640851 c.5740G>A p.A1914T missense 0.00014004
1027. 179514906 c.39802G>T p.V13268F missense 0.00013909
1028. 179460416 c.57665A>G p.E19222G missense 0.00013848
1029. 179483585 c.46697-5A>G splice site 0.00013796
1030. 179606520 c.11440G>A p.E3814K missense 0.00013783
1031. 179496034 c.43748-7C>T splice site 0.00013725
1032. 179466397 c.55420G>A p.V18474I missense 0.00013624
1033. 179410115 c.95722T>C p.Y31908H missense 0.00013606
1034. 179590695 c.20354C>T p.S6785L missense 0.00013410
1035. 179452261 c.63775G>A p.V21259I missense 0.00013402
1036. 179478952 c.49172G>A p.R16391Q missense 0.00013401
1037. 179558657 c.31505C>T p.S10502L missense 0.00013401
1038. 179599653 c.14998C>T p.R5000C missense 0.00013400
1039. 179489414 c.44593G>A p.E14865K missense 0.00013381
1040. 179434249 c.76610G>A p.R25537H missense 0.00013374
1041. 179426989 c.83870G>C p.R27957T missense 0.00013366
1042. 179429332 c.81527G>T p.R27176L missense 0.00013354
1043. 179587128 c.22386T>A p.D7462E missense 0.00013336
1044. 179579957 c.25956A>G p.I8652M missense 0.00013334
1045. 179449104 c.65174T>C p.V21725A missense 0.00013332
1046. 179396928 c.104414G>A p.R34805Q missense 0.00013331
1047. 179419780 c.88406C>T p.A29469V missense 0.00013322
1048. 179602841 c.14339G>A p.S4780N missense 0.00013320
1049. 179605964 c.11996A>G p.N3999S missense 0.00013315
1050. 179433205 c.77654T>C p.I25885T missense 0.00013312
1051. 179481473 c.48143T>C p.I16048T missense 0.00013311
1052. 179532400 c.35594C>T p.T11865I missense 0.00013306
1053. 179594108 c.18775A>G p.T6259A missense 0.00013298
1054. 179421698 c.88183T>C p.F29395L missense 0.00013296
1055. 179441248 c.69715+8T>C splice site 0.00013295
1056. 179463495 c.56942C>T p.A18981V missense 0.00013288
1057. 179589100 c.21002A>G p.K7001R missense 0.00013286
1058. 179457528 c.59318A>G p.E19773G missense 0.00013286
1059. 179425936 c.84923A>C p.Q28308P missense 0.00013282
1060. 179583077 c.24756T>G p.D8252E missense 0.00013281
1061. 179449817 c.64654A>G p.I21552V missense 0.00013280
1062. 179474898 c.51355T>G p.F17119V missense 0.00013278
1063. 179482666 c.47412G>T p.R15804S missense 0.00013277
1064. 179581980 c.25481G>A p.R8494Q missense 0.00013274
1065. 179440817 c.70042G>A p.A23348T missense 0.00013274
1066. 179484464 c.46580T>A p.M15527K missense 0.00013271
1067. 179472154 c.53261T>C p.F17754S missense 0.00013269
1068. 179422801 c.87280G>A p.E29094K missense 0.00013264
1069. 179456400 c.60146G>A p.R20049H missense 0.00013264
1070. 179413763 c.92590G>A p.D30864N missense 0.00013263
1071. 179424127 c.86732_86734delAAG p.E28911_G28912delinsG inframe 0.00013262
1072. 179419312 c.88762T>G p.L29588V missense 0.00013262
1073. 179414791 c.91774G>A p.D30592N missense 0.00013261
1074. 179428990 c.81869G>C p.G27290A missense 0.00013258
1075. 179449470 c.64898G>A p.R21633Q missense 0.00013257
1076. 179404361 c.98431C>T p.R32811C missense 0.00013257
1077. 179399836 c.101506T>A p.C33836S missense 0.00013253
1078. 179473021 c.52589A>G p.N17530S missense 0.00013219
1079. 179543170 c.33881C>G p.P11294R missense 0.00013207
1080. 179631288 c.9523G>A p.V3175I missense 0.00013201
1081. 179640551 c.6040A>G p.T2014A missense 0.00013188
1082. 179664293 c.835C>T p.R279W missense 0.00013184
1083. 179666933 c.227G>C p.G76A missense 0.00013180
1084. 179463751 c.56686G>A p.V18896M missense 0.00013168
1085. 179642139 c.4645+8G>T splice site 0.00013152
1086. 179536884 c.35041G>A p.E11681K missense 0.00013028
1087. 179536943 c.34982T>C p.V11661A missense 0.00013022
1088. 179440995 c.69864A>G p.I23288M missense 0.00012891
1089. 179406192 c.97612C>T p.R32538C missense 0.00012744
1090. 179474255 c.51782G>A p.R17261Q missense 0.00012662
1091. 179593004 c.19547A>T p.K6516M missense 0.00012623
1092. 179439559 c.71300G>A p.R23767Q missense 0.00012609
1093. 179647297 c.3133G>A p.V1045M missense 0.00012586
1094. 179575637 c.28187C>T p.P9396L missense 0.00012573
1095. 179587094 c.22420G>A p.A7474T missense 0.00012565
1096. 179438596 c.72263T>C p.V24088A missense 0.00012535
1097. 179429101 c.81758A>G p.N27253S missense 0.00012513
1098. 179584152 c.23965C>T p.R7989C missense 0.00012511
1099. 179600385 c.14788C>A p.P4930T missense 0.00012486
1100. 179469836 c.54068G>A p.R18023Q missense 0.00012483
1101. 179422879 c.87202A>G p.I29068V missense 0.00012482
1102. 179576733 c.27824A>G p.Y9275C missense 0.00012478
1103. 179575619 c.28205G>A p.R9402H missense 0.00012474
1104. 179548801 c.32731G>A p.E10911K missense 0.00012463
1105. 179594164 c.18719G>A p.R6240Q missense 0.00012459
1106. 179437556 c.73303C>T p.R24435C missense 0.00012455
1107. 179516017 c.39578A>G p.E13193G missense 0.00012453
1108. 179621433 c.10770G>C p.E3590D missense 0.00012450
1109. 179575870 c.28093C>T p.R9365W missense 0.00012446
1110. 179396820 c.104522G>A p.R34841H missense 0.00012445
1111. 179433610 c.77249G>A p.R25750Q missense 0.00012444
1112. 179443592 c.68165A>G p.N22722S missense 0.00012443
1113. 179458757 c.58363G>A p.G19455S missense 0.00012442
1114. 179414407 c.92042C>A p.A30681D missense 0.00012437
1115. 179553849 c.32026A>G p.K10676E missense 0.00012437
1116. 179408636 c.96235G>C p.D32079H missense 0.00012432
1117. 179413138 c.93215G>A p.R31072H missense 0.00012431
1118. 179454441 c.62011G>A p.E20671K missense 0.00012431
1119. 179584097 c.24020G>A p.R8007Q missense 0.00012428
1120. 179586724 c.22666C>T p.R7556C missense 0.00012426
1121. 179441363 c.69608G>A p.G23203E missense 0.00012424
1122. 179575908 c.28055T>C p.L9352S missense 0.00012423
1123. 179568916 c.30181A>C p.K10061Q missense 0.00012422
1124. 179644761 c.3695A>T p.D1232V missense 0.00012375
1125. 179629385 c.9857A>G p.K3286R missense 0.00012360
1126. 179666975 c.185G>A p.R62H missense 0.00012360
1127. 179659244 c.1280C>T p.A427V missense 0.00012358
1128. 179514067 c.39974-9T>C splice site 0.00012355
1129. 179599611 c.15040A>T p.T5014S missense 0.00012241
1130. 179474440 c.51710C>T p.T17237I missense 0.00012211
1131. 179407048 c.97435C>A p.R32479S missense 0.00012183
1132. 179512125 c.40124A>C p.E13375A missense 0.00012121
1133. 179466051 c.55673G>A p.R18558H missense 0.00012077
1134. 179599697 c.14954A>C p.K4985T missense 0.00012074
1135. 179518761 c.38442dupA p.Pro12815ThrfsTer37 frameshift 0.00012069
1136. 179412208 c.94145G>A p.R31382H missense 0.00011994
1137. 179427578 c.83281G>A p.V27761I missense 0.00011989
1138. 179593749 c.19016A>G p.Y6339C missense 0.00011969
1139. 179506963 c.40558+1G>A essential splice site 0.00011954
1140. 179407285 c.97198C>A p.P32400T missense 0.00011947
1141. 179545815 c.33331G>A p.A11111T missense 0.00011910
1142. 179582457 c.25144C>T p.R8382C missense 0.00011844
1143. 179453387 c.63065G>A p.R21022H missense 0.00011778
1144. 179396561 c.104781G>C p.K34927N missense 0.00011765
1145. 179455043 c.61409T>C p.I20470T missense 0.00011752
1146. 179495058 c.44191C>T p.L14731F missense 0.00011727
1147. 179576668 c.27886+3G>A splice site 0.00011727
1148. 179435177 c.75682C>T p.P25228S missense 0.00011724
1149. 179446415 c.66580G>A p.E22194K missense 0.00011722
1150. 179429395 c.81464T>C p.I27155T missense 0.00011719
1151. 179590631 c.20418A>C p.K6806N missense 0.00011706
1152. 179438678 c.72181A>G p.M24061V missense 0.00011684
1153. 179438677 c.72182T>C p.M24061T missense 0.00011682
1154. 179401078 c.100396C>T p.R33466C missense 0.00011681
1155. 179452805 c.63329C>T p.A21110V missense 0.00011662
1156. 179417245 c.90382A>T p.T30128S missense 0.00011650
1157. 179489194 c.44813T>C p.V14938A missense 0.00011640
1158. 179485577 c.45760A>T p.I15254F missense 0.00011637
1159. 179462655 c.57242T>C p.I19081T missense 0.00011634
1160. 179482698 c.47380G>A p.V15794I missense 0.00011629
1161. 179472122 c.53287+6G>A splice site 0.00011625
1162. 179480434 c.48394C>T p.R16132C missense 0.00011622
1163. 179410718 c.95245G>A p.E31749K missense 0.00011616
1164. 179433872 c.76987G>A p.D25663N missense 0.00011613
1165. 179413222 c.93131G>T p.G31044V missense 0.00011612
1166. 179413571 c.92782G>C p.D30928H missense 0.00011612
1167. 179572475 c.28819G>A p.V9607M missense 0.00011610
1168. 179424988 c.85871G>A p.R28624H missense 0.00011610
1169. 179574368 c.28678G>A p.D9560N missense 0.00011602
1170. 179412986 c.93367G>C p.V31123L missense 0.00011601
1171. 179430397 c.80462C>T p.P26821L missense 0.00011599
1172. 179399964 c.101378A>T p.D33793V missense 0.00011597
1173. 179430304 c.80555G>A p.R26852H missense 0.00011597
1174. 179516983 c.39211+8C>T splice site 0.00011597
1175. 179593110 c.19441C>A p.P6481T missense 0.00011596
1176. 179579857 c.26056G>A p.G8686S missense 0.00011593
1177. 179638835 c.7060C>T p.R2354C missense 0.00011579
1178. 179532446 c.35548T>A p.Y11850N missense 0.00011555
1179. 179659828 c.1066G>C p.E356Q missense 0.00011537
1180. 179560685 c.31114G>C p.E10372Q missense 0.00011521
1181. 179514313 c.39941C>A p.T13314N missense 0.00011504
1182. 179447784 c.65746C>T p.R21916W missense 0.00011410
1183. 179535906 c.35228-9T>A splice site 0.00011316
1184. 179535019 c.35312C>T p.P11771L missense 0.00011309
1185. 179567397 c.30224-7T>G splice site 0.00011211
1186. 179404792 c.98098+3G>A splice site 0.00011199
1187. 179539807 c.34571G>A p.R11524Q missense 0.00011098
1188. 179408276 c.96424G>A p.V32142I missense 0.00011032
1189. 179582475 c.25126C>T p.P8376S missense 0.00011007
1190. 179514346 c.39908C>T p.P13303L missense 0.00010996
1191. 179401248 c.100226G>A p.C33409Y missense 0.00010977
1192. 179446924 c.66172C>T p.R22058C missense 0.00010960
1193. 179594955 c.18172C>T p.R6058C missense 0.00010948
1194. 179548721 c.32806+5A>G splice site 0.00010939
1195. 179462277 c.57532G>A p.V19178I missense 0.00010927
1196. 179462331 c.57478G>C p.V19160L missense 0.00010892
1197. 179452410 c.63626G>A p.R21209Q missense 0.00010873
1198. 179425387 c.85472G>A p.R28491H missense 0.00010842
1199. 179447197 c.65986C>T p.R21996C missense 0.00010838
1200. 179467119 c.55010C>T p.P18337L missense 0.00010829
1201. 179418866 c.88972A>G p.I29658V missense 0.00010828
1202. 179505367 c.40634-10T>A splice site 0.00010826
1203. 179484561 c.46483G>A p.A15495T missense 0.00010826
1204. 179495649 c.44036G>A p.R14679Q missense 0.00010823
1205. 179576932 c.27625A>G p.K9209E missense 0.00010821
1206. 179604062 c.13898A>T p.K4633I missense 0.00010819
1207. 179453518 c.62934_62936delAGA p.E20978_E20979delinsE inframe 0.00010817
1208. 179579037 c.26464G>A p.A8822T missense 0.00010813
1209. 179596191 c.17302G>A p.D5768N missense 0.00010810
1210. 179425090 c.85769G>A p.R28590Q missense 0.00010806
1211. 179424857 c.86002A>G p.I28668V missense 0.00010805
1212. 179435355 c.75504T>G p.S25168R missense 0.00010799
1213. 179436554 c.74305A>G p.N24769D missense 0.00010798
1214. 179483349 c.46928A>G p.H15643R missense 0.00010798
1215. 179602871 c.14309A>G p.Y4770C missense 0.00010798
1216. 179596473 c.17129G>A p.R5710Q missense 0.00010796
1217. 179403317 c.99239G>A p.G33080E missense 0.00010793
1218. 179434558 c.76301G>A p.G25434D missense 0.00010793
1219. 179536740 c.35185G>A p.E11729K missense 0.00010793
1220. 179514620 c.39819G>T splice site 0.00010792
1221. 179577057 c.27592C>G p.Q9198E missense 0.00010791
1222. 179446711 c.66385C>T p.R22129C missense 0.00010789
1223. 179514619 c.39820C>T p.P13274S missense 0.00010789
1224. 179396823 c.104519G>A p.R34840Q missense 0.00010787
1225. 179412628 c.93725G>A p.R31242H missense 0.00010787
1226. 179435401 c.75458C>T p.S25153L missense 0.00010787
1227. 179443596 c.68161G>A p.E22721K missense 0.00010784
1228. 179457159 c.59573C>T p.T19858I missense 0.00010783
1229. 179605467 c.12493G>A p.G4165S missense 0.00010781
1230. 179598124 c.15896G>C p.R5299T missense 0.00010779
1231. 179605628 c.12332C>G p.A4111G missense 0.00010778
1232. 179397483 c.103859G>A p.R34620H missense 0.00010778
1233. 179435732 c.75127G>T p.V25043F missense 0.00010777
1234. 179396305 c.105037C>T p.R35013C missense 0.00010775
1235. 179398590 c.102752T>A p.M34251K missense 0.00010775
1236. 179435498 c.75361A>G p.I25121V missense 0.00010774
1237. 179644006 c.3913G>C p.G1305R missense 0.00010774
1238. 179575562 c.28262C>T p.T9421M missense 0.00010772
1239. 179400061 c.101281C>T p.R33761W missense 0.00010768
1240. 179396082 c.105260C>T p.T35087M missense 0.00010766
1241. 179623903 c.10115-4G>A splice site 0.00010761
1242. 179643733 c.4076A>G p.E1359G missense 0.00010736
1243. 179482054 c.47758A>C p.K15920Q missense 0.00010722
1244. 179647078 c.3241G>T p.A1081S missense 0.00010720
1245. 179647631 c.3002T>G p.M1001R missense 0.00010717
1246. 179648973 c.2599A>G p.S867G missense 0.00010716
1247. 179407041 c.97442G>A p.G32481E missense 0.00010702
1248. 179441030 c.69829G>A p.V23277M missense 0.00010661
1249. 179479460 c.48781G>A p.D16261N missense 0.00010618
1250. 179434367 c.76492C>G p.P25498A missense 0.00010610
1251. 179620943 c.11254+6T>C splice site 0.00010537
1252. 179534960 c.35371G>T p.V11791F missense 0.00010511
1253. 179448343 c.65566G>A p.A21856T missense 0.00010421
1254. 179579305 c.26201-5A>T splice site 0.00010384
1255. 179577968 c.26893G>A p.E8965K missense 0.00010310
1256. 179507011 c.40511T>G p.L13504R missense 0.00010282
1257. 179439953 c.70906C>T p.R23636C missense 0.00010254
1258. 179517403 c.39020A>C p.K13007T missense 0.00010204
1259. 179410814 c.95149G>A p.V31717I missense 0.00010203
1260. 179466515 c.55303-1G>A essential splice site 0.00010185
1261. 179426411 c.84448T>C p.Y28150H missense 0.00010175
1262. 179586789 c.22601T>A p.F7534Y missense 0.00010147
1263. 179391962 c.107753G>A p.C35918Y missense 0.00010143
1264. 179470001 c.53903G>A p.R17968H missense 0.00010142
1265. 179468920 c.54494G>A p.R18165H missense 0.00010119
1266. 179411745 c.94507G>A p.A31503T missense 0.00010111
1267. 179511841 c.40172A>T p.E13391V missense 0.00010103
1268. 179588829 c.21157A>C p.T7053P missense 0.00010095
1269. 179473985 c.52052T>C p.V17351A missense 0.00010093
1270. 179460285 c.57796A>G p.M19266V missense 0.00010083
1271. 179446909 c.66187G>C p.V22063L missense 0.00010080
1272. 179462331 c.57478G>A p.V19160I missense 0.00010054
1273. 179516437 c.39419C>T p.A13140V missense 0.00010054
1274. 179587536 c.22090C>T p.R7364W missense 0.00010050
1275. 179435191 c.75668C>T p.T25223I missense 0.00010043
1276. 179426671 c.84188G>A p.R28063H missense 0.00010036
1277. 179474103 c.51934_51936delGAA p.E17312del1 inframe 0.00010021
1278. 179484781 c.46363G>A p.D15455N missense 0.00010015
1279. 179597311 c.16477G>A p.G5493S missense 0.00010012
1280. 179529653 c.36044C>T p.T12015M missense 0.00010005
1281. 179577222 c.27427G>T p.V9143F missense 0.00009990
1282. 179441868 c.69194T>C p.L23065S missense 0.00009989
1283. 179458146 c.58789T>G p.L19597V missense 0.00009988
1284. 179434945 c.75914C>T p.P25305L missense 0.00009982
1285. 179600474 c.14699C>T p.A4900V missense 0.00009980
1286. 179417867 c.89760A>C p.E29920D missense 0.00009979
1287. 179417680 c.89947G>A p.V29983M missense 0.00009976
1288. 179638579 c.7316G>A p.R2439H missense 0.00009975
1289. 179441846 c.69216T>G p.I23072M missense 0.00009974
1290. 179637980 c.7711G>A p.E2571K missense 0.00009973
1291. 179462439 c.57370G>A p.V19124I missense 0.00009970
1292. 179475791 c.51065C>T p.A17022V missense 0.00009964
1293. 179480210 c.48462G>A p.T16154T splice site 0.00009962
1294. 179594220 c.18663A>C p.E6221D missense 0.00009961
1295. 179542438 c.34201G>A p.E11401K missense 0.00009961
1296. 179459199 c.58022G>A p.S19341N missense 0.00009960
1297. 179643821 c.3988C>T p.R1330C missense 0.00009960
1298. 179414944 c.91621G>A p.G30541R missense 0.00009959
1299. 179453918 c.62534C>T p.T20845M missense 0.00009959
1300. 179480116 c.48556C>T p.R16186C missense 0.00009958
1301. 179410568 c.95395A>G p.I31799V missense 0.00009954
1302. 179553855 c.32020C>G p.L10674V missense 0.00009953
1303. 179604242 c.13718C>T p.S4573L missense 0.00009951
1304. 179418740 c.89098_89100delGAA p.Glu29700del inframe 0.00009948
1305. 179621020 c.11183dupG p.Leu3729ThrfsTer9 frameshift 0.00009947
1306. 179413669 c.92684G>A p.R30895Q missense 0.00009944
1307. 179397925 c.103417G>A p.V34473I missense 0.00009943
1308. 179403836 c.98826C>G p.D32942E missense 0.00009942
1309. 179504804 c.40757C>T p.A13586V missense 0.00009942
1310. 179545032 c.33367G>A p.A11123T missense 0.00009941
1311. 179566892 c.30511+3G>A splice site 0.00009940
1312. 179398822 c.102520G>A p.V34174I missense 0.00009938
1313. 179593070 c.19481T>G p.L6494R missense 0.00009922
1314. 179641981 c.4709G>C p.G1570A missense 0.00009903
1315. 179641543 c.5048G>A p.R1683Q missense 0.00009901
1316. 179650727 c.2218C>A p.R740S missense 0.00009900
1317. 179639020 c.6971C>T p.T2324M missense 0.00009890
1318. 179648841 c.2731G>A p.V911I missense 0.00009888
1319. 179634919 c.8509A>T p.S2837C missense 0.00009888
1320. 179648838 c.2734C>T p.R912C missense 0.00009888
1321. 179655493 c.1742C>T p.P581L missense 0.00009887
1322. 179558420 c.31514-4delT splice site 0.00009870
1323. 179406131 c.97673G>A p.R32558Q missense 0.00009828
1324. 179393344 c.107134A>C p.N35712H missense 0.00009807
1325. 179500307 c.41744C>T p.A13915V missense 0.00009722
1326. 179460362 c.57719G>A p.R19240Q missense 0.00009676
1327. 179407817 c.96883G>A p.V32295M missense 0.00009615
1328. 179469726 c.54178G>A p.V18060I missense 0.00009576
1329. 179441006 c.69853G>A p.E23285K missense 0.00009565
1330. 179393941 c.106537A>G p.K35513E missense 0.00009522
1331. 179401787 c.100049C>T p.T33350I missense 0.00009502
1332. 179528602 c.36392G>A p.R12131H missense 0.00009479
1333. 179547937 c.32887+1G>T essential splice site 0.00009465
1334. 179456902 c.59729C>T p.T19910I missense 0.00009412
1335. 179547988 c.32837A>T p.E10946V missense 0.00009402
1336. 179516471 c.39385G>A p.V13129I missense 0.00009392
1337. 179421853 c.88028G>A p.R29343H missense 0.00009296
1338. 179469622 c.54194G>A p.R18065H missense 0.00009282
1339. 179600345 c.14828C>A p.A4943E missense 0.00009262
1340. 179583335 c.24506-8C>G splice site 0.00009250
1341. 179479226 c.49015C>T p.R16339W missense 0.00009239
1342. 179466463 c.55354T>C p.S18452P missense 0.00009239
1343. 179459149 c.58072C>T p.R19358C missense 0.00009218
1344. 179556739 c.31762+4C>T splice site 0.00009218
1345. 179447268 c.65915G>A p.R21972H missense 0.00009210
1346. 179585136 c.23353T>C p.C7785R missense 0.00009198
1347. 179449648 c.64720G>A p.A21574T missense 0.00009198
1348. 179407135 c.97348G>A p.V32450I missense 0.00009195
1349. 179447261 c.65922G>A p.M21974I missense 0.00009184
1350. 179469867 c.54037G>T p.A18013S missense 0.00009173
1351. 179599466 c.15185G>A p.S5062N missense 0.00009168
1352. 179408930 c.96026T>G p.I32009R missense 0.00009161
1353. 179576848 c.27709T>G p.S9237A missense 0.00009158
1354. 179485612 c.45725G>A p.R15242K missense 0.00009157
1355. 179516055 c.39548-8A>G splice site 0.00009157
1356. 179445040 c.67057+9A>G splice site 0.00009154
1357. 179544077 c.33731C>T p.P11244L missense 0.00009153
1358. 179417703 c.89924C>T p.A29975V missense 0.00009150
1359. 179501436 c.41018C>T p.P13673L missense 0.00009150
1360. 179597239 c.16549T>G p.S5517A missense 0.00009147
1361. 179463490 c.56947G>A p.A18983T missense 0.00009137
1362. 179442879 c.68363T>C p.L22788P missense 0.00009132
1363. 179443562 c.68195C>T p.S22732L missense 0.00009131
1364. 179542575 c.34064A>G p.E11355G missense 0.00009131
1365. 179428105 c.82754C>A p.S27585Y missense 0.00009129
1366. 179596987 c.16709C>T p.T5570I missense 0.00009128
1367. 179429977 c.80882C>T p.A26961V missense 0.00009127
1368. 179605829 c.12131C>T p.S4044F missense 0.00009127
1369. 179416834 c.90793C>T p.R30265W missense 0.00009126
1370. 179598080 c.15940A>G p.N5314D missense 0.00009125
1371. 179404151 c.98641C>T p.P32881S missense 0.00009123
1372. 179449552 c.64816G>C p.D21606H missense 0.00009123
1373. 179399743 c.101599C>G p.L33867V missense 0.00009122
1374. 179437481 c.73378G>A p.V24460M missense 0.00009122
1375. 179429821 c.81038G>A p.R27013Q missense 0.00009121
1376. 179446747 c.66349G>A p.A22117T missense 0.00009120
1377. 179462752 c.57145G>A p.V19049I missense 0.00009119
1378. 179441333 c.69638G>A p.R23213H missense 0.00009118
1379. 179604698 c.13262A>G p.N4421S missense 0.00009117
1380. 179468729 c.54685G>A p.V18229M missense 0.00009115
1381. 179595796 c.17596G>T p.G5866C missense 0.00009115
1382. 179397619 c.103723C>T p.R34575C missense 0.00009113
1383. 179440280 c.70579G>A p.V23527I missense 0.00009111
1384. 179397262 c.104080T>G p.S34694A missense 0.00009111
1385. 179408698 c.96173G>A p.R32058Q missense 0.00009110
1386. 179397730 c.103612A>G p.M34538V missense 0.00009109
1387. 179397759 c.103583A>G p.E34528G missense 0.00009109
1388. 179567259 c.30355G>C p.E10119Q missense 0.00009108
1389. 179514043 c.39989A>G p.K13330R missense 0.00009098
1390. 179438273 c.72586C>T p.R24196C missense 0.00009094
1391. 179643656 c.4153G>A p.A1385T missense 0.00009090
1392. 179640232 c.6359G>A p.R2120Q missense 0.00009084
1393. 179647623 c.3010G>A p.E1004K missense 0.00009070
1394. 179647666 c.2967C>A p.F989L missense 0.00009067
1395. 179650635 c.2310G>T p.Q770H missense 0.00009065
1396. 179438057 c.72802C>T p.R24268C missense 0.00009002
1397. 179497056 c.43565A>G p.H14522R missense 0.00008979
1398. 179539099 c.34650A>C p.E11550D missense 0.00008872
1399. 179531549 c.35875+2T>C essential splice site 0.00008850
1400. 179468595 c.54811+8T>C splice site 0.00008850
1401. 179563607 c.30717A>C p.K10239N missense 0.00008828
1402. 179500702 c.41596G>A p.V13866I missense 0.00008817
1403. 179597397 c.16391G>C p.G5464A missense 0.00008774
1404. 179584554 c.23665G>A p.A7889T missense 0.00008771
1405. 179593118 c.19433A>G p.N6478S missense 0.00008759
1406. 179473988 c.52049A>G p.K17350R missense 0.00008748
1407. 179539053 c.34696G>T p.A11566S missense 0.00008741
1408. 179535858 c.35267C>A p.P11756Q missense 0.00008741
1409. 179558336 c.31594G>A p.V10532I missense 0.00008741
1410. 179467196 c.54933G>A p.M18311I missense 0.00008709
1411. 179586815 c.22575T>A p.D7525E missense 0.00008654
1412. 179429557 c.81302G>T p.G27101V missense 0.00008617
1413. 179534966 c.35365C>A p.P11789T missense 0.00008598
1414. 179587379 c.22240+7A>C splice site 0.00008525
1415. 179558706 c.31456A>T p.I10486F missense 0.00008509
1416. 179584182 c.23939-4A>T splice site 0.00008500
1417. 179600745 c.14428A>C p.K4810Q missense 0.00008492
1418. 179549126 c.32653A>T p.M10885L missense 0.00008490
1419. 179587608 c.22018G>A p.V7340I missense 0.00008489
1420. 179579976 c.25937G>A p.R8646H missense 0.00008441
1421. 179476001 c.50858-3C>T splice site 0.00008424
1422. 179597782 c.16121G>A p.C5374Y missense 0.00008419
1423. 179424388 c.86471C>T p.T28824I missense 0.00008418
1424. 179452458 c.63578G>A p.R21193H missense 0.00008403
1425. 179402650 c.99290-6G>A splice site 0.00008396
1426. 179588283 c.21544C>T p.R7182W missense 0.00008393
1427. 179466438 c.55379C>T p.T18460I missense 0.00008391
1428. 179439511 c.71348G>A p.R23783H missense 0.00008385
1429. 179585279 c.23210A>C p.K7737T missense 0.00008384
1430. 179583583 c.24344G>A p.S8115N missense 0.00008374
1431. 179401159 c.100315T>C p.W33439R missense 0.00008372
1432. 179590188 c.20743G>T p.A6915S missense 0.00008369
1433. 179480491 c.48337G>A p.E16113K missense 0.00008366
1434. 179595454 c.17806A>G p.I5936V missense 0.00008363
1435. 179474019 c.52018C>T p.L17340F missense 0.00008353
1436. 179455176 c.61276C>T p.L20426F missense 0.00008349
1437. 179486366 c.45185T>C p.I15062T missense 0.00008346
1438. 179517256 c.39056C>T p.P13019L missense 0.00008346
1439. 179485268 c.45980G>A p.R15327H missense 0.00008344
1440. 179434214 c.76645G>A p.G25549S missense 0.00008338
1441. 179440902 c.69957C>G p.I23319M missense 0.00008332
1442. 179548809 c.32723T>A p.V10908E missense 0.00008324
1443. 179439407 c.71452A>G p.I23818V missense 0.00008322
1444. 179581891 c.25570G>A p.G8524R missense 0.00008321
1445. 179404870 c.98023G>A p.V32675I missense 0.00008318
1446. 179498239 c.42847C>T p.R14283C missense 0.00008317
1447. 179435332 c.75527G>A p.R25176H missense 0.00008316
1448. 179494129 c.44323G>A p.V14775M missense 0.00008316
1449. 179457798 c.59048C>G p.P19683R missense 0.00008315
1450. 179500008 c.41908C>T p.P13970S missense 0.00008314
1451. 179421725 c.88156A>T p.S29386C missense 0.00008314
1452. 179643842 c.3967G>T p.A1323S missense 0.00008312
1453. 179474691 c.51459T>G p.D17153E missense 0.00008311
1454. 179596641 c.16961T>G p.V5654G missense 0.00008311
1455. 179621363 c.10840G>T p.Glu3614Ter nonsense 0.00008309
1456. 179482562 c.47516T>C p.I15839T missense 0.00008309
1457. 179560625 c.31174G>A p.E10392K missense 0.00008308
1458. 179580264 c.25877A>G p.N8626S missense 0.00008302
1459. 179430193 c.80666A>G p.Y26889C missense 0.00008302
1460. 179577056 c.27593A>G p.Q9198R missense 0.00008301
1461. 179428175 c.82684T>C p.Y27562H missense 0.00008298
1462. 179472634 c.52880G>A p.R17627H missense 0.00008298
1463. 179582828 c.24905C>A p.T8302K missense 0.00008298
1464. 179449557 c.64811G>A p.R21604Q missense 0.00008297
1465. 179453945 c.62507G>A p.R20836Q missense 0.00008297
1466. 179412310 c.94043A>T p.K31348M missense 0.00008297
1467. 179416885 c.90742G>A p.V30248I missense 0.00008296
1468. 179453984 c.62468G>A p.R20823H missense 0.00008296
1469. 179474488 c.51662G>A p.R17221H missense 0.00008296
1470. 179451453 c.64175G>A p.R21392H missense 0.00008295
1471. 179413547 c.92806G>A p.V30936I missense 0.00008294
1472. 179430005 c.80854G>A p.V26952I missense 0.00008294
1473. 179440757 c.70102A>G p.I23368V missense 0.00008294
1474. 179397342 c.104000T>C p.I34667T missense 0.00008291
1475. 179457598 c.59248G>A p.G19750S missense 0.00008290
1476. 179577164 c.27485C>T p.T9162M missense 0.00008290
1477. 179457228 c.59504T>G p.V19835G missense 0.00008288
1478. 179430631 c.80228A>C p.K26743T missense 0.00008287
1479. 179412982 c.93371A>T p.D31124V missense 0.00008286
1480. 179430442 c.80417A>G p.H26806R missense 0.00008285
1481. 179398780 c.102562G>A p.E34188K missense 0.00008285
1482. 179404426 c.98366A>G p.K32789R missense 0.00008285
1483. 179395605 c.105737C>G p.A35246G missense 0.00008284
1484. 179430818 c.80041C>T p.L26681F missense 0.00008284
1485. 179399178 c.102164T>C p.V34055A missense 0.00008283
1486. 179645973 c.3398A>G p.N1133S missense 0.00008283
1487. 179411922 c.94330T>C p.W31444R missense 0.00008282
1488. 179639770 c.6668A>T p.H2223L missense 0.00008249
1489. 179644848 c.3608G>C p.G1203A missense 0.00008249
1490. 179631243 c.9568G>T p.V3190F missense 0.00008244
1491. 179634994 c.8434G>C p.V2812L missense 0.00008243
1492. 179648805 c.2767G>A p.E923K missense 0.00008243
1493. 179638739 c.7156G>A p.G2386S missense 0.00008243
1494. 179629391 c.9851A>G p.K3284R missense 0.00008240
1495. 179650587 c.2358C>G p.H786Q missense 0.00008240
1496. 179641009 c.5582G>A p.R1861H missense 0.00008238
1497. 179443369 c.68298C>A p.D22766E missense 0.00008238
1498. 179487410 c.44900G>A p.R14967Q missense 0.00008219
1499. 179464169 c.56351G>A p.R18784H missense 0.00008186
1500. 179392469 c.107384T>C p.V35795A missense 0.00008123
1501. 179448394 c.65515G>A p.A21839T missense 0.00008082
1502. 179584566 c.23660-7_23660-5delCTT splice site 0.00008082
1503. 179559571 c.31333G>T p.V10445F missense 0.00007997
1504. 179429186 c.81673G>A p.V27225I missense 0.00007990
1505. 179454968 c.61484G>A p.R20495H missense 0.00007987
1506. 179446405 c.66590G>A p.R22197Q missense 0.00007942
1507. 179497119 c.43502C>A p.T14501N missense 0.00007918
1508. 179504506 c.40796C>T p.T13599I missense 0.00007910
1509. 179497134 c.43487G>A p.R14496Q missense 0.00007908
1510. 179600304 c.14869A>C p.T4957P missense 0.00007895
1511. 179510703 c.40352C>A p.P13451H missense 0.00007893
1512. 179411602 c.94553T>C p.V31518A missense 0.00007892
1513. 179559591 c.31313G>A p.R10438Q missense 0.00007874
1514. 179531604 c.35822T>C p.I11941T missense 0.00007871
1515. 179599611 c.15040A>G p.T5014A missense 0.00007869
1516. 179396631 c.104711G>A p.R34904K missense 0.00007857
1517. 179534397 c.35392G>A p.E11798K missense 0.00007835
1518. 179452058 c.63880G>A p.G21294S missense 0.00007827
1519. 179530128 c.36019G>C p.E12007Q missense 0.00007824
1520. 179560649 c.31150T>G p.W10384G missense 0.00007821
1521. 179469429 c.54381+6C>G splice site 0.00007798
1522. 179531583 c.35843T>C p.I11948T missense 0.00007761
1523. 179407087 c.97396G>A p.E32466K missense 0.00007709
1524. 179579255 c.26246T>C p.V8749A missense 0.00007693
1525. 179453729 c.62723G>A p.R20908Q missense 0.00007685
1526. 179407675 c.96906G>A p.V32302V splice site 0.00007654
1527. 179528420 c.36466G>C p.E12156Q missense 0.00007651
1528. 179575655 c.28175-6T>C splice site 0.00007641
1529. 179517959 c.38791+6T>C splice site 0.00007636
1530. 179467255 c.54874G>C p.G18292R missense 0.00007634
1531. 179410809 c.95154C>A p.S31718R missense 0.00007625
1532. 179408268 c.96432G>T p.K32144N missense 0.00007616
1533. 179452031 c.63907G>A p.V21303M missense 0.00007577
1534. 179584982 c.23387G>A p.R7796Q missense 0.00007575
1535. 179482119 c.47693G>A p.R15898Q missense 0.00007574
1536. 179594862 c.18265G>A p.D6089N missense 0.00007563
1537. 179584525 c.23694G>A p.M7898I missense 0.00007558
1538. 179421567 c.88306+8T>C splice site 0.00007557
1539. 179407383 c.97192+6G>A splice site 0.00007553
1540. 179393148 c.107230A>G p.I35744V missense 0.00007551
1541. 179423313 c.86873G>A p.S28958N missense 0.00007546
1542. 179403702 c.98960C>T p.S32987F missense 0.00007546
1543. 179403703 c.98959T>C p.S32987P missense 0.00007540
1544. 179456782 c.59849G>A p.R19950Q missense 0.00007536
1545. 179479241 c.49000G>A p.V16334M missense 0.00007536
1546. 179584160 c.23957C>T p.S7986F missense 0.00007535
1547. 179516426 c.39430G>A p.V13144I missense 0.00007531
1548. 179473495 c.52243G>A p.D17415N missense 0.00007531
1549. 179427229 c.83630G>A p.R27877H missense 0.00007530
1550. 179455520 c.60932G>A p.R20311Q missense 0.00007526
1551. 179455278 c.61174T>G p.W20392G missense 0.00007526
1552. 179474141 c.51896C>T p.P17299L missense 0.00007521
1553. 179455524 c.60928C>T p.R20310C missense 0.00007520
1554. 179585857 c.22889G>C p.C7630S missense 0.00007519
1555. 179605139 c.12821G>A p.S4274N missense 0.00007516
1556. 179476106 c.50850C>A p.D16950E missense 0.00007513
1557. 179421775 c.88106G>T p.G29369V missense 0.00007508
1558. 179438710 c.72149A>G p.E24050G missense 0.00007508
1559. 179538378 c.34768G>C p.E11590Q missense 0.00007508
1560. 179477647 c.49801G>T p.V16601L missense 0.00007506
1561. 179592097 c.19995A>T p.E6665D missense 0.00007505
1562. 179415874 c.91384C>T p.R30462W missense 0.00007505
1563. 179481354 c.48164G>A p.R16055H missense 0.00007503
1564. 179425397 c.85462G>A p.V28488I missense 0.00007503
1565. 179429342 c.81517C>G p.P27173A missense 0.00007503
1566. 179435305 c.75554A>C p.K25185T missense 0.00007497
1567. 179645983 c.3388G>C p.V1130L missense 0.00007494
1568. 179437012 c.73847G>A p.R24616Q missense 0.00007493
1569. 179415885 c.91373G>A p.S30458N missense 0.00007493
1570. 179605071 c.12889T>G p.C4297G missense 0.00007491
1571. 179402266 c.99668G>A p.R33223H missense 0.00007490
1572. 179436922 c.73937G>A p.S24646N missense 0.00007490
1573. 179485208 c.46040T>G p.V15347G missense 0.00007490
1574. 179642650 c.4261C>T p.R1421W missense 0.00007486
1575. 179556770 c.31735A>C p.K10579Q missense 0.00007486
1576. 179445043 c.67057+6T>C splice site 0.00007485
1577. 179476243 c.50713C>T p.R16905C missense 0.00007484
1578. 179553487 c.32114C>T p.T10705I missense 0.00007480
1579. 179505303 c.40688C>T p.T13563I missense 0.00007479
1580. 179457505 c.59341C>T p.L19781F missense 0.00007478
1581. 179462427 c.57382A>G p.M19128V missense 0.00007477
1582. 179546384 c.33172+4G>A splice site 0.00007477
1583. 179454135 c.62317C>A p.L20773M missense 0.00007476
1584. 179458094 c.58841T>C p.I19614T missense 0.00007474
1585. 179415915 c.91343G>A p.R30448H missense 0.00007474
1586. 179472587 c.52927C>T p.R17643W missense 0.00007473
1587. 179589103 c.20999A>G p.N7000S missense 0.00007473
1588. 179416704 c.90923G>A p.S30308N missense 0.00007472
1589. 179583211 c.24622G>A p.E8208K missense 0.00007471
1590. 179425943 c.84916A>G p.N28306D missense 0.00007471
1591. 179548765 c.32767A>C p.K10923Q missense 0.00007469
1592. 179600591 c.14582A>T p.D4861V missense 0.00007469
1593. 179632870 c.9176A>T p.E3059V missense 0.00007469
1594. 179485494 c.45843G>C p.L15281F missense 0.00007468
1595. 179604357 c.13603G>T p.V4535F missense 0.00007468
1596. 179454354 c.62098A>G p.N20700D missense 0.00007467
1597. 179425894 c.84965G>A p.R28322H missense 0.00007467
1598. 179439070 c.71789A>T p.K23930I missense 0.00007467
1599. 179600687 c.14486A>C p.Q4829P missense 0.00007466
1600. 179398685 c.102657T>A p.S34219R missense 0.00007465
1601. 179437525 c.73334C>T p.T24445I missense 0.00007465
1602. 179585181 c.23308G>A p.G7770R missense 0.00007464
1603. 179428211 c.82648G>A p.A27550T missense 0.00007464
1604. 179600655 c.14518A>C p.N4840H missense 0.00007463
1605. 179398386 c.102956C>T p.T34319I missense 0.00007463
1606. 179594408 c.18572T>C p.I6191T missense 0.00007463
1607. 179397349 c.103993C>G p.L34665V missense 0.00007462
1608. 179439136 c.71723G>A p.G23908D missense 0.00007462
1609. 179474996 c.51257G>A p.R17086H missense 0.00007461
1610. 179413109 c.93244G>A p.E31082K missense 0.00007460
1611. 179398570 c.102772C>A p.P34258T missense 0.00007460
1612. 179604695 c.13265T>G p.I4422S missense 0.00007460
1613. 179417916 c.89711G>A p.R29904H missense 0.00007459
1614. 179644006 c.3913G>T p.G1305W missense 0.00007459
1615. 179435495 c.75364G>A p.V25122M missense 0.00007458
1616. 179404186 c.98606G>A p.R32869H missense 0.00007458
1617. 179400129 c.101213G>A p.R33738H missense 0.00007457
1618. 179404407 c.98385T>G p.S32795R missense 0.00007457
1619. 179468771 c.54643C>T p.R18215C missense 0.00007456
1620. 179582793 c.24940T>C p.F8314L missense 0.00007456
1621. 179584010 c.24107C>T p.S8036L missense 0.00007455
1622. 179395623 c.105719G>A p.R35240Q missense 0.00007455
1623. 179395209 c.106133C>G p.A35378G missense 0.00007455
1624. 179397216 c.104126G>A p.R34709H missense 0.00007454
1625. 179414833 c.91732G>A p.V30578I missense 0.00007454
1626. 179427819 c.83040T>A p.D27680E missense 0.00007454
1627. 179397751 c.103591A>G p.K34531E missense 0.00007453
1628. 179397706 c.103636C>T p.R34546C missense 0.00007453
1629. 179398914 c.102428T>C p.M34143T missense 0.00007453
1630. 179481862 c.47860G>A p.A15954T missense 0.00007450
1631. 179647149 c.3170T>C p.V1057A missense 0.00007447
1632. 179631299 c.9512A>G p.N3171S missense 0.00007428
1633. 179640323 c.6268G>T p.G2090C missense 0.00007428
1634. 179465893 c.55738C>T p.P18580S missense 0.00007417
1635. 179631162 c.9649G>A p.E3217K missense 0.00007416
1636. 179648910 c.2662G>A p.D888N missense 0.00007416
1637. 179658146 c.1521C>G p.H507Q missense 0.00007416
1638. 179659200 c.1324G>A p.V442M missense 0.00007414
1639. 179479664 c.48670T>C p.W16224R missense 0.00007366
1640. 179606622 c.11338G>A p.E3780K missense 0.00007301
1641. 179438185 c.72674C>T p.P24225L missense 0.00007281
1642. 179545897 c.33249G>T splice site 0.00007245
1643. 179570051 c.29454_29456delAGA p.Glu9820del inframe 0.00007086
1644. 179482046 c.47760+6T>C splice site 0.00007052
1645. 179393398 c.107080C>G p.L35694V missense 0.00006984
1646. 179411327 c.94828G>A p.A31610T missense 0.00006969
1647. 179494029 c.44423A>C p.K14808T missense 0.00006947
1648. 179406161 c.97643G>A p.R32548H missense 0.00006913
1649. 179459361 c.57860G>A p.R19287H missense 0.00006872
1650. 179427578 c.83281G>C p.V27761L missense 0.00006851
1651. 179464064 c.56456A>G p.N18819S missense 0.00006826
1652. 179510748 c.40307C>G p.P13436R missense 0.00006816
1653. 179487498 c.44816-4A>G splice site 0.00006813
1654. 179587383 c.22240+3G>A splice site 0.00006809
1655. 179517418 c.39005C>T p.S13002L missense 0.00006807
1656. 179549717 c.32471-1G>A essential splice site 0.00006805
1657. 179444051 c.67706G>A p.R22569Q missense 0.00006765
1658. 179513992 c.40040_40042delAAG p.Glu13347del inframe 0.00006761
1659. 179453771 c.62681G>T p.C20894F missense 0.00006749
1660. 179545841 c.33305G>A p.R11102H missense 0.00006741
1661. 179656876 c.1585G>A p.A529T missense 0.00006740
1662. 179634406 c.8902C>T p.P2968S missense 0.00006737
1663. 179517804 c.38839A>C p.T12947P missense 0.00006729
1664. 179593473 c.19180G>C p.V6394L missense 0.00006728
1665. 179427284 c.83575A>G p.K27859E missense 0.00006722
1666. 179567384 c.30230C>T p.P10077L missense 0.00006718
1667. 179588289 c.21538G>A p.G7180R missense 0.00006715
1668. 179408557 c.96310+4A>T splice site 0.00006711
1669. 179486590 c.45059C>A p.T15020N missense 0.00006697
1670. 179436715 c.74144C>T p.P24715L missense 0.00006682
1671. 179632879 c.9167G>A p.R3056H missense 0.00006682
1672. 179476646 c.50390G>A p.R16797H missense 0.00006680
1673. 179605146 c.12814G>A p.V4272M missense 0.00006679
1674. 179605116 c.12844A>C p.I4282L missense 0.00006678
1675. 179440028 c.70831G>A p.A23611T missense 0.00006678
1676. 179542943 c.33911-8C>A splice site 0.00006677
1677. 179392182 c.107671G>A p.G35891S missense 0.00006674
1678. 179470215 c.53807G>A p.R17936H missense 0.00006669
1679. 179432413 c.78446C>G p.T26149S missense 0.00006667
1680. 179431578 c.79281C>G p.D26427E missense 0.00006667
1681. 179442018 c.69044C>T p.A23015V missense 0.00006664
1682. 179431564 c.79295G>A p.R26432Q missense 0.00006663
1683. 179432183 c.78676G>C p.E26226Q missense 0.00006662
1684. 179497044 c.43577G>A p.R14526Q missense 0.00006661
1685. 179459169 c.58052_58054delAAG p.Glu19351del inframe 0.00006661
1686. 179469851 c.54053A>T p.K18018M missense 0.00006660
1687. 179416428 c.91199A>T p.Y30400F missense 0.00006660
1688. 179576905 c.27652G>T p.V9218F missense 0.00006659
1689. 179577876 c.26985C>A p.D8995E missense 0.00006659
1690. 179439406 c.71453T>C p.I23818T missense 0.00006658
1691. 179411526 c.94629A>G p.I31543M missense 0.00006657
1692. 179429092 c.81767A>G p.E27256G missense 0.00006656
1693. 179441857 c.69205G>A p.G23069S missense 0.00006655
1694. 179597238 c.16550C>T p.S5517L missense 0.00006655
1695. 179481536 c.48080G>A p.R16027H missense 0.00006654
1696. 179489273 c.44734C>T p.H14912Y missense 0.00006653
1697. 179595418 c.17842A>C p.I5948L missense 0.00006653
1698. 179544120 c.33688G>A p.E11230K missense 0.00006652
1699. 179408585 c.96286G>A p.A32096T missense 0.00006650
1700. 179433388 c.77471G>A p.R25824H missense 0.00006649
1701. 179600427 c.14746A>G p.K4916E missense 0.00006649
1702. 179449134 c.65144G>T p.R21715L missense 0.00006648
1703. 179495607 c.44078G>A p.R14693H missense 0.00006648
1704. 179465722 c.55909C>A p.R18637S missense 0.00006647
1705. 179449153 c.65125G>C p.A21709P missense 0.00006647
1706. 179579769 c.26144G>A p.C8715Y missense 0.00006646
1707. 179435369 c.75490G>A p.D25164N missense 0.00006645
1708. 179429726 c.81133T>C p.F27045L missense 0.00006644
1709. 179598563 c.15553G>A p.V5185I missense 0.00006644
1710. 179413886 c.92467G>A p.G30823S missense 0.00006643
1711. 179482676 c.47402C>T p.T15801I missense 0.00006641
1712. 179454576 c.61876C>T p.R20626X nonsense 0.00006641
1713. 179457964 c.58971A>C p.E19657D missense 0.00006640
1714. 179585824 c.22922C>T p.S7641L missense 0.00006640
1715. 179480433 c.48395G>A p.R16132H missense 0.00006640
1716. 179481680 c.47936C>T p.P15979L missense 0.00006639
1717. 179459250 c.57971G>A p.R19324Q missense 0.00006638
1718. 179432981 c.77878G>A p.E25960K missense 0.00006636
1719. 179440424 c.70435C>T p.R23479W missense 0.00006636
1720. 179411970 c.94282C>G p.R31428G missense 0.00006635
1721. 179412538 c.93815C>T p.T31272I missense 0.00006635
1722. 179413522 c.92831G>A p.R30944H missense 0.00006634
1723. 179398728 c.102614G>A p.G34205D missense 0.00006633
1724. 179428624 c.82235C>G p.T27412R missense 0.00006633
1725. 179412479 c.93874A>G p.N31292D missense 0.00006632
1726. 179428474 c.82385C>T p.T27462M missense 0.00006632
1727. 179413139 c.93214C>T p.R31072C missense 0.00006631
1728. 179457258 c.59474G>C p.R19825T missense 0.00006631
1729. 179404549 c.98243G>A p.R32748H missense 0.00006631
1730. 179407526 c.97055G>A p.R32352H missense 0.00006630
1731. 179454455 c.61997T>C p.I20666T missense 0.00006630
1732. 179430976 c.79883G>C p.R26628P missense 0.00006629
1733. 179396364 c.104978C>T p.T34993M missense 0.00006629
1734. 179424136 c.86723A>G p.N28908S missense 0.00006629
1735. 179451866 c.64072G>A p.V21358M missense 0.00006629
1736. 179472265 c.53150G>A p.R17717H missense 0.00006629
1737. 179604584 c.13376T>C p.I4459T missense 0.00006628
1738. 179416636 c.90991C>T p.P30331S missense 0.00006627
1739. 179397908 c.103434C>A p.D34478E missense 0.00006627
1740. 179411949 c.94303G>A p.D31435N missense 0.00006627
1741. 179575470 c.28354G>A p.A9452T missense 0.00006627
1742. 179596527 c.17075T>C p.V5692A missense 0.00006627
1743. 179404327 c.98465A>G p.D32822G missense 0.00006627
1744. 179592478 c.19827G>C p.K6609N missense 0.00006627
1745. 179567202 c.30412A>C p.N10138H missense 0.00006626
1746. 179441417 c.69554G>A p.R23185Q missense 0.00006625
1747. 179422632 c.87449T>C p.I29150T missense 0.00006625
1748. 179571371 c.29230C>T p.R9744C missense 0.00006625
1749. 179571287 c.29314G>A p.V9772M missense 0.00006625
1750. 179398886 c.102456T>A p.H34152Q missense 0.00006625
1751. 179395912 c.105430G>A p.E35144K missense 0.00006624
1752. 179407047 c.97436G>A p.R32479H missense 0.00006622
1753. 179629473 c.9769C>T p.R3257C missense 0.00006618
1754. 179642619 c.4292G>A p.R1431Q missense 0.00006617
1755. 179639668 c.6770C>G p.T2257S missense 0.00006617
1756. 179645849 c.3522A>C p.E1174D missense 0.00006609
1757. 179659753 c.1141G>A p.G381S missense 0.00006599
1758. 179638300 c.7483G>A p.V2495M missense 0.00006599
1759. 179665290 c.415C>T p.R139W missense 0.00006599
1760. 179631240 c.9571C>G p.Q3191E missense 0.00006595
1761. 179647631 c.3002T>C p.M1001T missense 0.00006595
1762. 179658217 c.1450G>A p.D484N missense 0.00006592
1763. 179513978 c.40054A>T p.K13352X nonsense 0.00006579
1764. 179603955 c.14005G>A p.E4669K missense 0.00006556
1765. 179513971 c.40057+4C>G splice site 0.00006536
1766. 179513970 c.40057+5C>T splice site 0.00006529
1767. 179513966 c.40057+9C>T splice site 0.00006524
1768. 179446504 c.66491A>T p.K22164I missense 0.00006519
1769. 179460293 c.57788G>A p.S19263N missense 0.00006408
1770. 179481965 c.47761-4G>A splice site 0.00006400
1771. 179482104 c.47708A>G p.K15903R missense 0.00006376
1772. 179463986 c.56534C>T p.T18845M missense 0.00006255
1773. 179482234 c.47578C>T p.P15860S missense 0.00006251
1774. 179539777 c.34601T>C p.L11534P missense 0.00006241
1775. 179507003 c.40519C>T p.R13507C missense 0.00006237
1776. 179460488 c.57593A>G p.N19198S missense 0.00006232
1777. 179474033 c.52004G>A p.R17335H missense 0.00006223
1778. 179482114 c.47698G>A p.E15900K missense 0.00006216
1779. 179544340 c.33650C>T p.A11217V missense 0.00006209
1780. 179406086 c.97718G>A p.R32573H missense 0.00006202
1781. 179486671 c.44978G>A p.G14993E missense 0.00006196
1782. 179506959 c.40558+5A>C splice site 0.00006187
1783. 179569437 c.29762T>C p.I9921T missense 0.00006180
1784. 179456974 c.59657T>G p.V19886G missense 0.00006178
1785. 179590749 c.20300C>A p.P6767H missense 0.00006138
1786. 179496930 c.43691C>G p.S14564C missense 0.00006125
1787. 179417121 c.90506G>A p.G30169D missense 0.00006124
1788. 179455133 c.61319G>A p.G20440E missense 0.00006122
1789. 179474438 c.51712C>T p.P17238S missense 0.00006114
1790. 179560679 c.31120G>T p.E10374X nonsense 0.00006096
1791. 179511284 c.40225C>T p.R13409C missense 0.00006091
1792. 179511283 c.40226G>A p.R13409H missense 0.00006090
1793. 179512102 c.40141+6C>T splice site 0.00006070
1794. 179481954 c.47768G>A p.G15923E missense 0.00006063
1795. 179537434 c.34787-4A>C splice site 0.00006062
1796. 179572551 c.28754-11T>C splice site 0.00006054
1797. 179586814 c.22576G>T p.V7526F missense 0.00006053
1798. 179464332 c.56296G>C p.A18766P missense 0.00006040
1799. 179406012 c.97792A>G p.I32598V missense 0.00006036
1800. 179479649 c.48685G>A p.V16229M missense 0.00006033
1801. 179592047 c.20045G>T p.G6682V missense 0.00006029
1802. 179572540 c.28754A>G p.E9585G missense 0.00005995
1803. 179517613 c.38921T>C p.L12974S missense 0.00005992
1804. 179447901 c.65629G>T p.A21877S missense 0.00005972
1805. 179422957 c.87124C>T p.P29042S missense 0.00005942
1806. 179528396 c.36490C>A p.P12164T missense 0.00005939
1807. 179426393 c.84466G>C p.G28156R missense 0.00005939
1808. 179603039 c.14141G>A p.G4714D missense 0.00005927
1809. 179479652 c.48682C>T p.R16228C missense 0.00005909
1810. 179455163 c.61289G>A p.C20430Y missense 0.00005892
1811. 179437892 c.72967A>G p.K24323E missense 0.00005890
1812. 179456154 c.60298G>A p.A20100T missense 0.00005885
1813. 179427287 c.83572G>A p.V27858I missense 0.00005884
1814. 179479397 c.48844G>A p.V16282I missense 0.00005884
1815. 179475969 c.50887G>T p.D16963Y missense 0.00005874
1816. 179439518 c.71341G>A p.V23781I missense 0.00005873
1817. 179475968 c.50888A>T p.D16963V missense 0.00005873
1818. 179415832 c.91426G>A p.V30476I missense 0.00005872
1819. 179466439 c.55378A>G p.T18460A missense 0.00005872
1820. 179594930 c.18197C>T p.S6066F missense 0.00005865
1821. 179427139 c.83720G>A p.S27907N missense 0.00005860
1822. 179424157 c.86702G>A p.R28901H missense 0.00005859
1823. 179578790 c.26595G>C p.K8865N missense 0.00005858
1824. 179588021 c.21713A>T p.D7238V missense 0.00005854
1825. 179481222 c.48296G>A p.R16099Q missense 0.00005850
1826. 179600360 c.14813T>C p.F4938S missense 0.00005850
1827. 179438633 c.72226T>G p.L24076V missense 0.00005848
1828. 179435018 c.75841G>T p.A25281S missense 0.00005845
1829. 179401077 c.100397G>A p.R33466H missense 0.00005842
1830. 179587949 c.21785C>G p.T7262S missense 0.00005842
1831. 179425388 c.85471C>T p.R28491C missense 0.00005838
1832. 179462550 c.57263-4C>T splice site 0.00005837
1833. 179599581 c.15070G>A p.E5024K missense 0.00005837
1834. 179421764 c.88117G>A p.E29373K missense 0.00005835
1835. 179466108 c.55616T>C p.V18539A missense 0.00005834
1836. 179429356 c.81503G>A p.R27168H missense 0.00005833
1837. 179486339 c.45212T>C p.I15071T missense 0.00005832
1838. 179457099 c.59626+7delA splice site 0.00005832
1839. 179475902 c.50954C>T p.T16985I missense 0.00005831
1840. 179421758 c.88123C>T p.R29375C missense 0.00005831
1841. 179544777 c.33424G>A p.E11142K missense 0.00005831
1842. 179454756 c.61696G>A p.V20566I missense 0.00005829
1843. 179421596 c.88285A>G p.I29429V missense 0.00005828
1844. 179425532 c.85327G>A p.V28443I missense 0.00005828
1845. 179454773 c.61679G>C p.G20560A missense 0.00005828
1846. 179600385 c.14788C>G p.P4930A missense 0.00005827
1847. 179458960 c.58160C>T p.T19387M missense 0.00005827
1848. 179458949 c.58171G>A p.D19391N missense 0.00005825
1849. 179590224 c.20707A>G p.I6903V missense 0.00005825
1850. 179584791 c.23578G>A p.A7860T missense 0.00005824
1851. 179429642 c.81217C>T p.P27073S missense 0.00005824
1852. 179498247 c.42839A>G p.D14280G missense 0.00005822
1853. 179414507 c.91942G>A p.G30648S missense 0.00005822
1854. 179485589 c.45748A>T p.S15250C missense 0.00005822
1855. 179489274 c.44733A>G p.I14911M missense 0.00005822
1856. 179432795 c.78064G>A p.V26022I missense 0.00005821
1857. 179435333 c.75526C>T p.R25176C missense 0.00005821
1858. 179556782 c.31723G>A p.V10575I missense 0.00005821
1859. 179442081 c.68981C>T p.T22994I missense 0.00005820
1860. 179416936 c.90691C>T p.P30231S missense 0.00005820
1861. 179417634 c.89993C>T p.S29998L missense 0.00005820
1862. 179416929 c.90698G>A p.R30233Q missense 0.00005820
1863. 179475078 c.51175A>G p.I17059V missense 0.00005819
1864. 179449204 c.65074A>G p.I21692V missense 0.00005819
1865. 179457796 c.59050C>T p.P19684S missense 0.00005819
1866. 179448493 c.65416C>T p.R21806W missense 0.00005818
1867. 179484414 c.46630C>T p.R15544C missense 0.00005818
1868. 179421667 c.88214A>G p.Q29405R missense 0.00005817
1869. 179449134 c.65144G>A p.R21715Q missense 0.00005817
1870. 179481638 c.47978C>A p.T15993N missense 0.00005817
1871. 179605911 c.12049T>G p.L4017V missense 0.00005816
1872. 179424608 c.86251_86253delGAA p.Glu28751del inframe 0.00005816
1873. 179468833 c.54581G>A p.G18194D missense 0.00005815
1874. 179605912 c.12048G>A p.M4016I missense 0.00005815
1875. 179501287 c.41167G>A p.G13723S missense 0.00005814
1876. 179621140 c.11063T>C p.F3688S missense 0.00005814
1877. 179423203 c.86983G>A p.A28995T missense 0.00005814
1878. 179482695 c.47383A>G p.I15795V missense 0.00005814
1879. 179463526 c.56911G>A p.V18971M missense 0.00005813
1880. 179432723 c.78136C>A p.H26046N missense 0.00005813
1881. 179465658 c.55973G>A p.R18658Q missense 0.00005812
1882. 179454027 c.62425G>A p.A20809T missense 0.00005812
1883. 179442825 c.68417C>T p.T22806I missense 0.00005812
1884. 179402416 c.99518G>A p.C33173Y missense 0.00005811
1885. 179472606 c.52908G>C p.E17636D missense 0.00005811
1886. 179583529 c.24398C>G p.T8133R missense 0.00005811
1887. 179437540 c.73319T>C p.I24440T missense 0.00005810
1888. 179444867 c.67147G>A p.G22383R missense 0.00005810
1889. 179455670 c.60782C>A p.T20261K missense 0.00005810
1890. 179481678 c.47938A>G p.I15980V missense 0.00005810
1891. 179629493 c.9749T>G p.V3250G missense 0.00005809
1892. 179425913 c.84946G>C p.E28316Q missense 0.00005809
1893. 179393602 c.106876T>G p.L35626V missense 0.00005809
1894. 179404873 c.98020C>T p.R32674C missense 0.00005809
1895. 179433257 c.77602T>C p.Y25868H missense 0.00005809
1896. 179490092 c.44456C>T p.T14819I missense 0.00005809
1897. 179582046 c.25415G>C p.S8472T missense 0.00005808
1898. 179402398 c.99536T>C p.V33179A missense 0.00005808
1899. 179403738 c.98924A>T p.Q32975L missense 0.00005808
1900. 179585815 c.22931G>A p.R7644Q missense 0.00005808
1901. 179595913 c.17479G>A p.E5827K missense 0.00005808
1902. 179413223 c.93130G>A p.G31044S missense 0.00005807
1903. 179605307 c.12653T>C p.I4218T missense 0.00005806
1904. 179490064 c.44484_44486delAGA p.Glu14828del inframe 0.00005806
1905. 179604259 c.13701T>G p.D4567E missense 0.00005805
1906. 179596486 c.17116G>A p.E5706K missense 0.00005805
1907. 179604732 c.13228G>A p.E4410K missense 0.00005805
1908. 179395552 c.105790G>A p.V35264I missense 0.00005805
1909. 179516868 c.39250G>T p.V13084L missense 0.00005804
1910. 179397346 c.103996C>G p.P34666A missense 0.00005804
1911. 179393686 c.106792C>G p.Q35598E missense 0.00005804
1912. 179397009 c.104333C>T p.T34778M missense 0.00005804
1913. 179431364 c.79495A>G p.T26499A missense 0.00005804
1914. 179443937 c.67820C>T p.T22607I missense 0.00005804
1915. 179456349 c.60197C>T p.P20066L missense 0.00005804
1916. 179560116 c.31229C>T p.P10410L missense 0.00005804
1917. 179403769 c.98893G>A p.D32965N missense 0.00005803
1918. 179397433 c.103909C>T p.R34637W missense 0.00005803
1919. 179397430 c.103912C>T p.R34638C missense 0.00005803
1920. 179637874 c.7817C>T p.A2606V missense 0.00005803
1921. 179441725 c.69337C>T p.R23113W missense 0.00005803
1922. 179517063 c.39139C>T p.P13047S missense 0.00005803
1923. 179553792 c.32083C>T p.P10695S missense 0.00005803
1924. 179606375 c.11585C>G p.P3862R missense 0.00005802
1925. 179398500 c.102842T>C p.I34281T missense 0.00005802
1926. 179396304 c.105038G>A p.R35013H missense 0.00005801
1927. 179395585 c.105757G>A p.V35253M missense 0.00005800
1928. 179605556 c.12404A>G p.N4135S missense 0.00005800
1929. 179399014 c.102328C>T p.R34110W missense 0.00005800
1930. 179410643 c.95320A>G p.K31774E missense 0.00005800
1931. 179413463 c.92890T>G p.S30964A missense 0.00005800
1932. 179429017 c.81842A>G p.Y27281C missense 0.00005800
1933. 179440214 c.70645G>A p.V23549I missense 0.00005800
1934. 179468783 c.54631C>A p.P18211T missense 0.00005800
1935. 179474599 c.51551T>C p.I17184T missense 0.00005800
1936. 179412385 c.93968C>T p.A31323V missense 0.00005799
1937. 179422111 c.87878G>A p.R29293H missense 0.00005799
1938. 179586723 c.22667G>A p.R7556H missense 0.00005799
1939. 179431174 c.79685G>A p.R26562Q missense 0.00005799
1940. 179408731 c.96140C>T p.T32047M missense 0.00005798
1941. 179397887 c.103455A>T p.E34485D missense 0.00005798
1942. 179407496 c.97085C>T p.A32362V missense 0.00005798
1943. 179403401 c.99155G>A p.R33052H missense 0.00005797
1944. 179396406 c.104936G>C p.G34979A missense 0.00005797
1945. 179571284 c.29317G>A p.A9773T missense 0.00005797
1946. 179397163 c.104179A>G p.R34727G missense 0.00005797
1947. 179414863 c.91702G>A p.E30568K missense 0.00005797
1948. 179395936 c.105406C>T p.R35136W missense 0.00005797
1949. 179422714 c.87367A>C p.S29123R missense 0.00005797
1950. 179422462 c.87619_87621delGAA p.Glu29207del inframe 0.00005797
1951. 179395852 c.105490C>T p.R35164C missense 0.00005796
1952. 179395741 c.105601G>A p.V35201M missense 0.00005796
1953. 179395822 c.105520C>T p.R35174C missense 0.00005796
1954. 179395959 c.105383C>T p.A35128V missense 0.00005796
1955. 179395968 c.105374C>T p.T35125M missense 0.00005796
1956. 179649037 c.2535G>T p.E845D missense 0.00005791
1957. 179654809 c.1834A>G p.K612E missense 0.00005785
1958. 179644840 c.3616G>T p.A1206S missense 0.00005775
1959. 179628972 c.10046C>T p.T3349I missense 0.00005774
1960. 179632609 c.9348C>G p.I3116M missense 0.00005773
1961. 179648811 c.2761G>A p.G921R missense 0.00005770
1962. 179639064 c.6927T>A p.N2309K missense 0.00005769
1963. 179666983 c.177C>A p.S59R missense 0.00005768
1964. 179664277 c.851C>T p.S284L missense 0.00005768
1965. 179666963 c.197C>T p.T66M missense 0.00005767
1966. 179664403 c.725A>G p.D242G missense 0.00005767
1967. 179506965 c.40557C>T p.S13519S splice site 0.00005761
1968. 179603910 c.14050G>A p.G4684R missense 0.00005742
1969. 179497083 c.43538G>A p.S14513N missense 0.00005718
1970. 179514321 c.39933G>T p.K13311N missense 0.00005690
1971. 179588411 c.21416T>A p.F7139Y missense 0.00005634
1972. 179603958 c.14002A>G p.T4668A missense 0.00005594
1973. 179532168 c.35713+1delG essential splice site 0.00005578
1974. 179406027 c.97777G>A p.V32593I missense 0.00005542
1975. 179537361 c.34855+1G>A essential splice site 0.00005521
1976. 179593872 c.18893T>C p.I6298T missense 0.00005519
1977. 179543189 c.33862_33864delAAG p.Lys11288del inframe 0.00005517
1978. 179595056 c.18071A>G p.N6024S missense 0.00005509
1979. 179500239 c.41812A>G p.M13938V missense 0.00005484
1980. 179539033 c.34708+8C>T splice site 0.00005472
1981. 179438371 c.72488G>A p.R24163H missense 0.00005455
1982. 179438074 c.72785G>A p.R24262H missense 0.00005443
1983. 179453315 c.63137T>C p.I21046T missense 0.00005424
1984. 179470432 c.53590A>G p.T17864A missense 0.00005418
1985. 179534130 c.35515A>G p.I11839V missense 0.00005397
1986. 179463987 c.56533A>C p.T18845P missense 0.00005355
1987. 179402164 c.99770A>C p.K33257T missense 0.00005353
1988. 179400777 c.100697C>T p.T33566I missense 0.00005348
1989. 179585375 c.23114C>T p.T7705I missense 0.00005342
1990. 179445319 c.66787C>T p.L22263F missense 0.00005339
1991. 179455115 c.61337G>A p.R20446H missense 0.00005335
1992. 179532043 c.35717C>G p.P11906R missense 0.00005334
1993. 179453342 c.63110G>A p.R21037H missense 0.00005331
1994. 179487462 c.44848G>A p.D14950N missense 0.00005324
1995. 179467306 c.54823C>G p.P18275A missense 0.00005317
1996. 179408336 c.96364G>A p.V32122M missense 0.00005311
1997. 179531993 c.35767C>T p.P11923S missense 0.00005272
1998. 179410150 c.95687A>T p.E31896V missense 0.00005268
1999. 179529387 c.36196G>A p.D12066N missense 0.00005250
2000. 179458289 c.58732+6C>T splice site 0.00005247
2001. 179600229 c.14935+9C>T splice site 0.00005243
2002. 179452061 c.63877G>A p.D21293N missense 0.00005240
2003. 179596309 c.17184A>G p.E5728E splice site 0.00005235
2004. 179590347 c.20584A>G p.S6862G missense 0.00005235
2005. 179549049 c.32722+8C>T splice site 0.00005222
2006. 179530116 c.36031C>T p.P12011S missense 0.00005217
2007. 179599719 c.14936-4G>T splice site 0.00005209
2008. 179558410 c.31520A>C p.E10507A missense 0.00005194
2009. 179577708 c.27050-6G>A splice site 0.00005190
2010. 179418232 c.89500C>A p.L29834I missense 0.00005180
2011. 179434420 c.76439G>A p.R25480H missense 0.00005180
2012. 179584293 c.23926G>A p.V7976I missense 0.00005179
2013. 179603863 c.14092+5G>A splice site 0.00005178
2014. 179509326 c.40426G>T p.V13476F missense 0.00005170
2015. 179499086 c.42415+7G>A splice site 0.00005148
2016. 179656821 c.1640A>G p.Q547R missense 0.00005142
2017. 179642683 c.4228G>C p.V1410L missense 0.00005131
2018. 179584544 c.23675T>C p.I7892T missense 0.00005130
2019. 179517650 c.38884G>T p.A12962S missense 0.00005128
2020. 179481856 c.47866G>A p.D15956N missense 0.00005125
2021. 179411564 c.94591G>A p.A31531T missense 0.00005122
2022. 179500729 c.41569G>A p.A13857T missense 0.00005115
2023. 179577628 c.27124G>A p.V9042I missense 0.00005114
2024. 179401854 c.99982G>A p.V33328M missense 0.00005100
2025. 179486423 c.45128G>A p.S15043N missense 0.00005094
2026. 179486648 c.45001A>C p.N15001H missense 0.00005090
2027. 179593296 c.19357G>A p.G6453S missense 0.00005090
2028. 179582497 c.25104C>A p.D8368E missense 0.00005088
2029. 179440976 c.69883G>A p.A23295T missense 0.00005087
2030. 179534951 c.35380A>T p.T11794S missense 0.00005087
2031. 179412021 c.94231G>A p.A31411T missense 0.00005079
2032. 179569255 c.29944G>A p.A9982T missense 0.00005067
2033. 179438528 c.72331G>C p.A24111P missense 0.00005065
2034. 179406315 c.97493-4G>T splice site 0.00005064
2035. 179483506 c.46771T>C p.Y15591H missense 0.00005063
2036. 179575836 c.28127C>G p.T9376R missense 0.00005062
2037. 179479583 c.48751G>A p.D16251N missense 0.00005060
2038. 179538352 c.34786+8A>G splice site 0.00005057
2039. 179439827 c.71032C>G p.Q23678E missense 0.00005056
2040. 179594954 c.18173G>A p.R6058H missense 0.00005053
2041. 179479403 c.48838G>A p.A16280T missense 0.00005051
2042. 179401914 c.99922G>A p.A33308T missense 0.00005049
2043. 179597349 c.16439C>A p.T5480K missense 0.00005046
2044. 179475986 c.50870T>C p.I16957T missense 0.00005044
2045. 179579220 c.26281G>A p.G8761S missense 0.00005042
2046. 179431953 c.78906A>C p.E26302D missense 0.00005042
2047. 179449687 c.64681G>A p.G21561S missense 0.00005039
2048. 179597777 c.16126C>A p.L5376M missense 0.00005038
2049. 179453388 c.63064C>T p.R21022C missense 0.00005038
2050. 179584977 c.23392G>A p.V7798M missense 0.00005035
2051. 179588040 c.21694T>G p.F7232V missense 0.00005035
2052. 179501172 c.41282G>A p.R13761H missense 0.00005034
2053. 179479230 c.49011T>G p.C16337W missense 0.00005032
2054. 179495914 c.43861G>A p.D14621N missense 0.00005029
2055. 179478911 c.49213G>A p.V16405I missense 0.00005029
2056. 179434264 c.76595T>C p.V25532A missense 0.00005028
2057. 179466859 c.55139T>C p.I18380T missense 0.00005024
2058. 179469789 c.54115G>A p.D18039N missense 0.00005024
2059. 179478643 c.49367G>A p.R16456H missense 0.00005024
2060. 179474467 c.51683C>T p.A17228V missense 0.00005023
2061. 179435086 c.75773A>G p.N25258S missense 0.00005022
2062. 179427230 c.83629C>T p.R27877C missense 0.00005019
2063. 179479064 c.49060C>T p.P16354S missense 0.00005019
2064. 179439727 c.71132T>C p.I23711T missense 0.00005017
2065. 179580340 c.25801G>T p.V8601F missense 0.00005016
2066. 179452676 c.63458T>C p.I21153T missense 0.00005016
2067. 179465779 c.55852T>C p.C18618R missense 0.00005015
2068. 179463630 c.56807G>A p.R18936Q missense 0.00005015
2069. 179447097 c.66086G>A p.R22029H missense 0.00005014
2070. 179589211 c.20891C>T p.T6964M missense 0.00005014
2071. 179485847 c.45598G>A p.A15200T missense 0.00005013
2072. 179588013 c.21721G>A p.V7241I missense 0.00005012
2073. 179394993 c.106349C>G p.T35450S missense 0.00005010
2074. 179485685 c.45652C>T p.R15218W missense 0.00005009
2075. 179485877 c.45568G>A p.V15190I missense 0.00005009
2076. 179516258 c.39469G>A p.E13157K missense 0.00005008
2077. 179393551 c.106927G>A p.V35643I missense 0.00005006
2078. 179649066 c.2506G>A p.G836S missense 0.00005005
2079. 179486352 c.45199G>A p.D15067N missense 0.00005003
2080. 179578828 c.26557G>C p.V8853L missense 0.00005003
2081. 179456630 c.59927-11T>A splice site 0.00005002
2082. 179421769 c.88112T>C p.I29371T missense 0.00005002
2083. 179542941 c.33911-6_33911-5insG splice site 0.00005001
2084. 179583569 c.24358C>T p.P8120S missense 0.00005001
2085. 179410548 c.95415C>A p.F31805L missense 0.00005000
2086. 179453841 c.62611C>G p.L20871V missense 0.00005000
2087. 179446813 c.66283C>T p.R22095W missense 0.00004998
2088. 179556803 c.31702G>A p.V10568M missense 0.00004998
2089. 179622512 c.10435G>A p.G3479R missense 0.00004998
2090. 179486304 c.45247C>T p.R15083W missense 0.00004997
2091. 179494102 c.44350G>A p.D14784N missense 0.00004997
2092. 179481247 c.48271G>A p.V16091I missense 0.00004997
2093. 179577882 c.26979T>G p.S8993R missense 0.00004997
2094. 179426506 c.84353G>A p.R28118H missense 0.00004996
2095. 179423275 c.86911G>A p.G28971R missense 0.00004996
2096. 179572370 c.28924A>G p.S9642G missense 0.00004996
2097. 179589197 c.20905T>C p.C6969R missense 0.00004996
2098. 179606601 c.11359G>A p.A3787T missense 0.00004996
2099. 179424719 c.86140G>A p.G28714R missense 0.00004995
2100. 179396884 c.104458G>A p.E34820K missense 0.00004995
2101. 179600534 c.14639C>T p.A4880V missense 0.00004993
2102. 179476619 c.50417G>A p.G16806E missense 0.00004993
2103. 179580496 c.25645C>T p.P8549S missense 0.00004993
2104. 179604063 c.13897A>G p.K4633E missense 0.00004993
2105. 179481594 c.48022C>T p.R16008W missense 0.00004992
2106. 179598367 c.15749C>T p.T5250I missense 0.00004992
2107. 179458930 c.58190C>T p.T19397M missense 0.00004991
2108. 179481602 c.48014C>G p.T16005R missense 0.00004991
2109. 179495789 c.43986T>G p.D14662E missense 0.00004990
2110. 179438948 c.71911T>C p.W23971R missense 0.00004990
2111. 179455353 c.61099C>T p.R20367W missense 0.00004990
2112. 179419672 c.88514G>A p.R29505H missense 0.00004989
2113. 179425114 c.85745T>A p.I28582K missense 0.00004989
2114. 179494176 c.44282-6G>A splice site 0.00004989
2115. 179417268 c.90359T>A p.I30120N missense 0.00004989
2116. 179466800 c.55198G>A p.A18400T missense 0.00004989
2117. 179637959 c.7732T>C p.Y2578H missense 0.00004989
2118. 179424856 c.86003T>C p.I28668T missense 0.00004988
2119. 179600414 c.14759C>T p.T4920M missense 0.00004988
2120. 179637924 c.7767G>T p.L2589F missense 0.00004987
2121. 179429702 c.81157T>A p.Y27053N missense 0.00004986
2122. 179501248 c.41206G>T p.A13736S missense 0.00004986
2123. 179432746 c.78113C>G p.T26038R missense 0.00004986
2124. 179438915 c.71944A>G p.N23982D missense 0.00004985
2125. 179393770 c.106708G>T p.V35570F missense 0.00004985
2126. 179434790 c.76069C>T p.R25357C missense 0.00004983
2127. 179587211 c.22303C>T p.P7435S missense 0.00004983
2128. 179602875 c.14305G>A p.E4769K missense 0.00004983
2129. 179396760 c.104582G>A p.R34861H missense 0.00004983
2130. 179416764 c.90863A>C p.N30288T missense 0.00004982
2131. 179434877 c.75982C>A p.P25328T missense 0.00004981
2132. 179431879 c.78980G>A p.R26327Q missense 0.00004981
2133. 179497489 c.43244G>A p.S14415N missense 0.00004981
2134. 179440111 c.70748C>A p.T23583K missense 0.00004981
2135. 179583214 c.24619G>A p.D8207N missense 0.00004981
2136. 179654220 c.1943G>C p.R648T missense 0.00004980
2137. 179444428 c.67496G>A p.R22499Q missense 0.00004980
2138. 179599476 c.15175G>A p.D5059N missense 0.00004980
2139. 179584892 c.23477T>C p.V7826A missense 0.00004979
2140. 179459204 c.58017G>C p.L19339F missense 0.00004979
2141. 179412629 c.93724C>T p.R31242C missense 0.00004979
2142. 179399452 c.101890C>A p.R33964S missense 0.00004979
2143. 179412644 c.93709G>A p.V31237I missense 0.00004979
2144. 179403742 c.98920G>A p.A32974T missense 0.00004978
2145. 179440820 c.70039G>C p.D23347H missense 0.00004978
2146. 179425883 c.84976C>T p.R28326W missense 0.00004978
2147. 179453993 c.62459T>C p.I20820T missense 0.00004978
2148. 179598097 c.15923G>A p.R5308Q missense 0.00004977
2149. 179393641 c.106837T>G p.S35613A missense 0.00004977
2150. 179440143 c.70716A>C p.Q23572H missense 0.00004977
2151. 179455928 c.60524C>T p.P20175L missense 0.00004977
2152. 179422815 c.87266T>C p.M29089T missense 0.00004976
2153. 179598113 c.15907G>A p.A5303T missense 0.00004976
2154. 179451375 c.64253A>C p.Y21418S missense 0.00004975
2155. 179605416 c.12544G>A p.E4182K missense 0.00004975
2156. 179403903 c.98759G>A p.R32920Q missense 0.00004975
2157. 179409083 c.95873G>A p.R31958Q missense 0.00004975
2158. 179456401 c.60145C>T p.R20049C missense 0.00004975
2159. 179546448 c.33112C>T p.P11038S missense 0.00004975
2160. 179595723 c.17669G>C p.S5890T missense 0.00004975
2161. 179417446 c.90181G>A p.V30061I missense 0.00004974
2162. 179441724 c.69338G>A p.R23113Q missense 0.00004974
2163. 179553407 c.32194G>A p.E10732K missense 0.00004974
2164. 179554545 c.31841C>A p.A10614D missense 0.00004974
2165. 179572465 c.28829G>A p.S9610N missense 0.00004974
2166. 179574365 c.28681G>A p.A9561T missense 0.00004974
2167. 179428736 c.82123G>A p.G27375R missense 0.00004974
2168. 179398516 c.102826C>T p.R34276W missense 0.00004974
2169. 179547442 c.33076C>A p.H11026N missense 0.00004974
2170. 179417400 c.90227C>T p.T30076M missense 0.00004973
2171. 179399067 c.102275G>A p.R34092H missense 0.00004973
2172. 179409141 c.95815A>G p.T31939A missense 0.00004973
2173. 179472202 c.53213A>T p.D17738V missense 0.00004973
2174. 179414020 c.92333C>G p.T30778R missense 0.00004972
2175. 179605544 c.12416A>G p.H4139R missense 0.00004972
2176. 179622412 c.10535T>C p.V3512A missense 0.00004972
2177. 179413030 c.93323T>C p.I31108T missense 0.00004972
2178. 179430950 c.79909G>A p.V26637I missense 0.00004972
2179. 179397584 c.103758A>T p.R34586S missense 0.00004972
2180. 179397926 c.103416C>G p.H34472Q missense 0.00004972
2181. 179413741 c.92612T>C p.V30871A missense 0.00004972
2182. 179428253 c.82606G>A p.E27536K missense 0.00004972
2183. 179432555 c.78304A>G p.R26102G missense 0.00004972
2184. 179413676 c.92677A>G p.K30893E missense 0.00004971
2185. 179393058 c.107320A>G p.I35774V missense 0.00004971
2186. 179397912 c.103430T>C p.I34477T missense 0.00004971
2187. 179400084 c.101258T>C p.F33753S missense 0.00004971
2188. 179604522 c.13438A>G p.I4480V missense 0.00004971
2189. 179440289 c.70570A>G p.T23524A missense 0.00004970
2190. 179592455 c.19850G>A p.G6617D missense 0.00004970
2191. 179396251 c.105091G>A p.V35031M missense 0.00004970
2192. 179407472 c.97109C>A p.T32370N missense 0.00004969
2193. 179422633 c.87448A>T p.I29150L missense 0.00004969
2194. 179565900 c.30629C>G p.P10210R missense 0.00004969
2195. 179398918 c.102424A>C p.I34142L missense 0.00004969
2196. 179396485 c.104857G>A p.V34953I missense 0.00004969
2197. 179404920 c.97973G>A p.R32658Q missense 0.00004969
2198. 179395926 c.105416C>T p.T35139I missense 0.00004968
2199. 179395893 c.105449G>A p.C35150Y missense 0.00004968
2200. 179568960 c.30137C>T p.T10046I missense 0.00004968
2201. 179395734 c.105608T>C p.V35203A missense 0.00004968
2202. 179395918 c.105424G>A p.E35142K missense 0.00004968
2203. 179410279 c.95558G>A p.R31853H missense 0.00004968
2204. 179422495 c.87586A>G p.M29196V missense 0.00004968
2205. 179531635 c.35798-7T>G splice site 0.00004961
2206. 179643640 c.4169C>T p.P1390L missense 0.00004960
2207. 179623878 c.10136G>A p.S3379N missense 0.00004960
2208. 179643649 c.4160T>C p.L1387P missense 0.00004959
2209. 179634654 c.8654C>T p.T2885I missense 0.00004959
2210. 179654797 c.1846G>T p.A616S missense 0.00004953
2211. 179641327 c.5264A>G p.N1755S missense 0.00004950
2212. 179632643 c.9314T>C p.I3105T missense 0.00004950
2213. 179640125 c.6466A>G p.I2156V missense 0.00004950
2214. 179648999 c.2573C>T p.S858L missense 0.00004948
2215. 179667000 c.160G>A p.V54M missense 0.00004947
2216. 179667003 c.157G>A p.G53S missense 0.00004947
2217. 179638672 c.7223A>G p.Q2408R missense 0.00004946
2218. 179640583 c.6008G>A p.R2003H missense 0.00004946
2219. 179639032 c.6959G>A p.R2320H missense 0.00004945
2220. 179639038 c.6953G>A p.R2318H missense 0.00004945
2221. 179639041 c.6950G>A p.R2317H missense 0.00004945
2222. 179665278 c.427G>A p.E143K missense 0.00004945
2223. 179650444 c.2396C>T p.T799M missense 0.00004944
2224. 179659806 c.1088C>T p.T363M missense 0.00004944
2225. 179648922 c.2650G>A p.A884T missense 0.00004944
2226. 179640946 c.5645G>A p.R1882H missense 0.00004943
2227. 179655434 c.1800+1G>A essential splice site 0.00004943
2228. 179640907 c.5684A>C p.H1895P missense 0.00004942
2229. 179640919 c.5672A>G p.Y1891C missense 0.00004942
2230. 179515484 c.39703C>G p.P13235A missense 0.00004901
2231. 179486699 c.44950G>C p.G14984R missense 0.00004900
2232. 179472917 c.52693C>G p.H17565D missense 0.00004892
2233. 179506978 c.40544T>C p.V13515A missense 0.00004866
2234. 179588431 c.21404-8C>G splice site 0.00004843
2235. 179549980 c.32470G>T p.V10824F missense 0.00004835
2236. 179482107 c.47705G>A p.G15902E missense 0.00004758
2237. 179536889 c.35036C>T p.P11679L missense 0.00004705
2238. 179595090 c.18037T>C p.Y6013H missense 0.00004684
2239. 179465886 c.55745C>T p.P18582L missense 0.00004625
2240. 179617861 c.11301G>A p.M3767I missense 0.00004570
2241. 179463880 c.56640C>A p.N18880K missense 0.00004550