TTN variants in ExAC

TTN gene summary
TTN variants in

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 frequency▼Populations*
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●●●●●●
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1191. 179401248 c.100226G>A p.C33409Y missense 0.00010977●●●●●●
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1199. 179447197 c.65986C>T p.R21996C missense 0.00010838●●●●●●
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1223. 179514619 c.39820C>T p.P13274S missense 0.00010789●●●●●●
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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●●●●●●
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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●●●●●●
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1244. 179647078 c.3241G>T p.A1081S missense 0.00010720●●●●●●
1245. 179647631 c.3002T>G p.M1001R missense 0.00010717●●●●●●
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1257. 179439953 c.70906C>T p.R23636C missense 0.00010254●●●●●●
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1263. 179391962 c.107753G>A p.C35918Y missense 0.00010143●●●●●●
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1265. 179468920 c.54494G>A p.R18165H missense 0.00010119●●●●●●
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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●●●●●●
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1277. 179474103 c.51934_51936delGAA p.E17312del1 inframe 0.00010021●●●●●●
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1284. 179434945 c.75914C>T p.P25305L missense 0.00009982●●●●●●
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1291. 179462439 c.57370G>A p.V19124I missense 0.00009970●●●●●●
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1297. 179643821 c.3988C>T p.R1330C missense 0.00009960●●●●●●
1298. 179414944 c.91621G>A p.G30541R missense 0.00009959●●●●●●
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1300. 179480116 c.48556C>T p.R16186C missense 0.00009958●●●●●●
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1302. 179553855 c.32020C>G p.L10674V missense 0.00009953●●●●●●
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1304. 179418740 c.89098_89100delGAA p.Glu29700del inframe 0.00009948●●●●●●
1305. 179621020 c.11183dupG p.Leu3729ThrfsTer9 frameshift 0.00009947●●●●●●
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1307. 179397925 c.103417G>A p.V34473I missense 0.00009943●●●●●●
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1327. 179407817 c.96883G>A p.V32295M missense 0.00009615●●●●●●
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1338. 179469622 c.54194G>A p.R18065H missense 0.00009282●●●●●●
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1368. 179605829 c.12131C>T p.S4044F missense 0.00009127●●●●●●
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1370. 179598080 c.15940A>G p.N5314D missense 0.00009125●●●●●●
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1372. 179449552 c.64816G>C p.D21606H missense 0.00009123●●●●●●
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1382. 179397619 c.103723C>T p.R34575C missense 0.00009113●●●●●●
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1384. 179397262 c.104080T>G p.S34694A missense 0.00009111●●●●●●
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1900. 179585815 c.22931G>A p.R7644Q missense 0.00005808●●●●●●
1901. 179595913 c.17479G>A p.E5827K missense 0.00005808●●●●●●
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1904. 179490064 c.44484_44486delAGA p.Glu14828del inframe 0.00005806●●●●●●
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1908. 179395552 c.105790G>A p.V35264I missense 0.00005805●●●●●●
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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●●●●●●
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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●●●●●●
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1982. 179438074 c.72785G>A p.R24262H missense 0.00005443●●●●●●
1983. 179453315 c.63137T>C p.I21046T missense 0.00005424●●●●●●
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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●●●●●●
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1995. 179467306 c.54823C>G p.P18275A missense 0.00005317●●●●●●
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1997. 179531993 c.35767C>T p.P11923S missense 0.00005272●●●●●●
1998. 179410150 c.95687A>T p.E31896V missense 0.00005268●●●●●●
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2015. 179499086 c.42415+7G>A splice site 0.00005148●●●●●●
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2018. 179584544 c.23675T>C p.I7892T missense 0.00005130●●●●●●
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9890. 179621354 c.10849T>C p.S3617P missense 0.00000831●●●●●●
9891. 179621368 c.10835T>C p.V3612A missense 0.00000831●●●●●●
9892. 179622506 c.10441A>G p.T3481A missense 0.00000831●●●●●●
9893. 179631339 c.9472G>T p.V3158F missense 0.00000831●●●●●●
9894. 179633655 c.8908A>G p.M2970V missense 0.00000831●●●●●●
9895. 179637922 c.7769C>T p.T2590I missense 0.00000831●●●●●●
9896. 179637975 c.7716C>G p.I2572M missense 0.00000831●●●●●●
9897. 179637989 c.7702A>C p.K2568Q missense 0.00000831●●●●●●
9898. 179638003 c.7688T>A p.V2563D missense 0.00000831●●●●●●
9899. 179638058 c.7633A>T p.T2545S missense 0.00000831●●●●●●
9900. 179638063 c.7628C>T p.T2543I missense 0.00000831●●●●●●
9901. 179638067 c.7624C>A p.L2542I missense 0.00000831●●●●●●
9902. 179638579 c.7316G>T p.R2439L missense 0.00000831●●●●●●
9903. 179638580 c.7315C>T p.R2439C missense 0.00000831●●●●●●
9904. 179639163 c.6828A>G p.I2276M missense 0.00000831●●●●●●
9905. 179642027 c.4663A>T p.K1555X nonsense 0.00000831●●●●●●
9906. 179643841 c.3968C>T p.A1323V missense 0.00000831●●●●●●
9907. 179643842 c.3967G>A p.A1323T missense 0.00000831●●●●●●
9908. 179403953 c.98709_98711delTCC p.Pro32904del inframe 0.00000831●●●●●●
9909. 179421990 c.87999dupT p.Asp29334Ter frameshift 0.00000831●●●●●●
9910. 179434932 c.75927delA p.Ala25310LeufsTer7 frameshift 0.00000831●●●●●●
9911. 179437315 c.73544_73555delGAGTTCTCGATA p.Arg24515_Asp24518del inframe 0.00000831●●●●●●
9912. 179454160 c.62292_62294delAGA p.Glu20764del inframe 0.00000831●●●●●●
9913. 179457321 c.59411dupT p.Arg19805LysfsTer3 frameshift 0.00000831●●●●●●
9914. 179466768 c.55230_55232delATC p.Ser18411del inframe 0.00000831●●●●●●
9915. 179494967 c.44281+1G>A essential splice site 0.00000831●●●●●●
9916. 179499975 c.41941delA p.Ser13981ValfsTer19 frameshift 0.00000831●●●●●●
9917. 179501285 c.41169delT p.Ser13724AlafsTer52 frameshift 0.00000831●●●●●●
9918. 179514543 c.39895+1G>A essential splice site 0.00000831●●●●●●
9919. 179600420 c.14753_14754delCA p.Thr4918SerfsTer17 frameshift 0.00000831●●●●●●
9920. 179620982 c.11221_11222delAG p.Arg3741AspfsTer13 frameshift 0.00000831●●●●●●
9921. 179621184 c.11019_11020insTGGAATTGTATAATTTTCTCATGGCA p.Gly3674TrpfsTer19 frameshift 0.00000831●●●●●●
9922. 179392996 c.107377+5G>T splice site 0.00000831●●●●●●
9923. 179392996 c.107377+5G>A splice site 0.00000831●●●●●●
9924. 179392997 c.107377+4A>G splice site 0.00000831●●●●●●
9925. 179441249 c.69715+7A>G splice site 0.00000831●●●●●●
9926. 179482909 c.47269+7A>G splice site 0.00000831●●●●●●
9927. 179494966 c.44281+2dupT splice site 0.00000831●●●●●●
9928. 179498137 c.42946+3G>T splice site 0.00000831●●●●●●
9929. 179498137 c.42946+3G>A splice site 0.00000831●●●●●●
9930. 179514625 c.39818-4C>T splice site 0.00000831●●●●●●
9931. 179516816 c.39295+7dupA splice site 0.00000831●●●●●●
9932. 179647775 c.2858C>G p.T953S missense 0.00000830●●●●●●
9933. 179441546 c.69425C>T p.P23142L missense 0.00000830●●●●●●
9934. 179398110 c.103232T>A p.I34411N missense 0.00000830●●●●●●
9935. 179391875 c.107840T>A p.I35947N missense 0.00000830●●●●●●
9936. 179393751 c.106727T>C p.V35576A missense 0.00000830●●●●●●
9937. 179422834 c.87247G>T p.V29083F missense 0.00000830●●●●●●
9938. 179458070 c.58865C>A p.S19622Y missense 0.00000830●●●●●●
9939. 179591922 c.20170G>A p.V6724I missense 0.00000830●●●●●●
9940. 179639156 c.6835C>G p.P2279A missense 0.00000830●●●●●●
9941. 179497499 c.43234A>G p.T14412A missense 0.00000830●●●●●●
9942. 179395521 c.105821C>T p.T35274I missense 0.00000830●●●●●●
9943. 179410744 c.95219T>C p.I31740T missense 0.00000830●●●●●●
9944. 179449799 c.64672G>A p.D21558N missense 0.00000830●●●●●●
9945. 179604915 c.13045G>A p.V4349M missense 0.00000830●●●●●●
9946. 179605869 c.12091G>C p.E4031Q missense 0.00000830●●●●●●
9947. 179396769 c.104573T>A p.I34858N missense 0.00000830●●●●●●
9948. 179396772 c.104570T>C p.L34857P missense 0.00000830●●●●●●
9949. 179398159 c.103183A>C p.K34395Q missense 0.00000830●●●●●●
9950. 179402468 c.99466C>T p.H33156Y missense 0.00000830●●●●●●
9951. 179410397 c.95440C>G p.P31814A missense 0.00000830●●●●●●
9952. 179411503 c.94652T>C p.V31551A missense 0.00000830●●●●●●
9953. 179412547 c.93806A>T p.D31269V missense 0.00000830●●●●●●
9954. 179412589 c.93764G>A p.R31255K missense 0.00000830●●●●●●
9955. 179412650 c.93703A>T p.I31235F missense 0.00000830●●●●●●
9956. 179412670 c.93683A>G p.K31228R missense 0.00000830●●●●●●
9957. 179413970 c.92383G>A p.V30795I missense 0.00000830●●●●●●
9958. 179415933 c.91325A>C p.K30442T missense 0.00000830●●●●●●
9959. 179416828 c.90799A>G p.T30267A missense 0.00000830●●●●●●
9960. 179422010 c.87979T>C p.S29327P missense 0.00000830●●●●●●
9961. 179422830 c.87251C>A p.P29084H missense 0.00000830●●●●●●
9962. 179425021 c.85838C>T p.T28613I missense 0.00000830●●●●●●
9963. 179429956 c.80903T>C p.I26968T missense 0.00000830●●●●●●
9964. 179430239 c.80620A>G p.K26874E missense 0.00000830●●●●●●
9965. 179432516 c.78343G>A p.D26115N missense 0.00000830●●●●●●
9966. 179432989 c.77870C>T p.T25957I missense 0.00000830●●●●●●
9967. 179433011 c.77848C>G p.L25950V missense 0.00000830●●●●●●
9968. 179433757 c.77102C>T p.P25701L missense 0.00000830●●●●●●
9969. 179435794 c.75065C>A p.S25022Y missense 0.00000830●●●●●●
9970. 179436125 c.74734C>T p.P24912S missense 0.00000830●●●●●●
9971. 179436494 c.74365A>G p.K24789E missense 0.00000830●●●●●●
9972. 179440687 c.70172T>C p.I23391T missense 0.00000830●●●●●●
9973. 179443634 c.68123T>C p.L22708P missense 0.00000830●●●●●●
9974. 179443691 c.68066A>G p.N22689S missense 0.00000830●●●●●●
9975. 179451267 c.64361A>C p.E21454A missense 0.00000830●●●●●●
9976. 179453894 c.62558T>C p.F20853S missense 0.00000830●●●●●●
9977. 179453987 c.62465C>G p.T20822S missense 0.00000830●●●●●●
9978. 179453993 c.62459T>G p.I20820S missense 0.00000830●●●●●●
9979. 179454045 c.62407T>C p.W20803R missense 0.00000830●●●●●●
9980. 179454327 c.62125C>T p.L20709F missense 0.00000830●●●●●●
9981. 179455796 c.60656G>T p.W20219L missense 0.00000830●●●●●●
9982. 179455968 c.60484G>A p.V20162I missense 0.00000830●●●●●●
9983. 179455988 c.60464A>G p.N20155S missense 0.00000830●●●●●●
9984. 179457559 c.59287G>A p.A19763T missense 0.00000830●●●●●●
9985. 179457993 c.58942T>C p.C19648R missense 0.00000830●●●●●●
9986. 179458078 c.58857A>C p.E19619D missense 0.00000830●●●●●●
9987. 179458805 c.58315C>T p.P19439S missense 0.00000830●●●●●●
9988. 179471927 c.53402T>C p.I17801T missense 0.00000830●●●●●●
9989. 179480082 c.48590G>A p.R16197H missense 0.00000830●●●●●●
9990. 179480100 c.48572T>C p.I16191T missense 0.00000830●●●●●●
9991. 179482611 c.47467G>A p.V15823M missense 0.00000830●●●●●●
9992. 179482694 c.47384T>C p.I15795T missense 0.00000830●●●●●●
9993. 179497414 c.43319G>A p.W14440X nonsense 0.00000830●●●●●●
9994. 179497645 c.43213G>A p.E14405K missense 0.00000830●●●●●●
9995. 179516843 c.39275C>T p.P13092L missense 0.00000830●●●●●●
9996. 179536757 c.35168T>A p.I11723K missense 0.00000830●●●●●●
9997. 179542563 c.34076C>A p.P11359H missense 0.00000830●●●●●●
9998. 179579121 c.26380T>A p.L8794I missense 0.00000830●●●●●●
9999. 179583075 c.24758T>C p.I8253T missense 0.00000830●●●●●●
10000. 179583445 c.24482G>A p.C8161Y missense 0.00000830●●●●●●
10001. 179583509 c.24418G>A p.V8140M missense 0.00000830●●●●●●
10002. 179583964 c.24153C>G p.D8051E missense 0.00000830●●●●●●
10003. 179588660 c.21326C>T p.S7109L missense 0.00000830●●●●●●
10004. 179594203 c.18680C>T p.P6227L missense 0.00000830●●●●●●
10005. 179594535 c.18445A>G p.I6149V missense 0.00000830●●●●●●
10006. 179596478 c.17124G>C p.Q5708H missense 0.00000830●●●●●●
10007. 179622494 c.10453C>A p.H3485N missense 0.00000830●●●●●●
10008. 179638033 c.7658A>C p.E2553A missense 0.00000830●●●●●●
10009. 179647779 c.2854G>C p.V952L missense 0.00000830●●●●●●
10010. 179544666 c.33535delG p.E11179Sfs*3 frameshift 0.00000830●●●●●●
10011. 179398126 c.103216G>A p.G34406R missense 0.00000830●●●●●●
10012. 179403940 c.98722G>A p.D32908N missense 0.00000830●●●●●●
10013. 179465649 c.55982C>T p.A18661V missense 0.00000830●●●●●●
10014. 179516829 c.39289C>A p.P13097T missense 0.00000830●●●●●●
10015. 179571454 c.29147C>T p.T9716I missense 0.00000830●●●●●●
10016. 179395500 c.105842C>T p.P35281L missense 0.00000830●●●●●●
10017. 179396808 c.104534C>T p.P34845L missense 0.00000830●●●●●●
10018. 179402423 c.99511T>C p.Y33171H missense 0.00000830●●●●●●
10019. 179410720 c.95243G>A p.R31748H missense 0.00000830●●●●●●
10020. 179415941 c.91317C>G p.I30439M missense 0.00000830●●●●●●
10021. 179415942 c.91316T>G p.I30439S missense 0.00000830●●●●●●
10022. 179416887 c.90740A>G p.D30247G missense 0.00000830●●●●●●
10023. 179417497 c.90130A>G p.K30044E missense 0.00000830●●●●●●
10024. 179422039 c.87950C>G p.A29317G missense 0.00000830●●●●●●
10025. 179426201 c.84658G>A p.D28220N missense 0.00000830●●●●●●
10026. 179427690 c.83169G>C p.E27723D missense 0.00000830●●●●●●
10027. 179429873 c.80986C>A p.P26996T missense 0.00000830●●●●●●
10028. 179430142 c.80717G>A p.R26906Q missense 0.00000830●●●●●●
10029. 179434828 c.76031G>A p.R25344Q missense 0.00000830●●●●●●
10030. 179434838 c.76021C>G p.L25341V missense 0.00000830●●●●●●
10031. 179436449 c.74410A>G p.I24804V missense 0.00000830●●●●●●
10032. 179436532 c.74327A>G p.K24776R missense 0.00000830●●●●●●
10033. 179440468 c.70391G>A p.G23464D missense 0.00000830●●●●●●
10034. 179440489 c.70370A>T p.D23457V missense 0.00000830●●●●●●
10035. 179443653 c.68104A>C p.T22702P missense 0.00000830●●●●●●
10036. 179443656 c.68101A>G p.T22701A missense 0.00000830●●●●●●
10037. 179443683 c.68074G>A p.V22692M missense 0.00000830●●●●●●
10038. 179443686 c.68071T>C p.W22691R missense 0.00000830●●●●●●
10039. 179446776 c.66320G>A p.R22107K missense 0.00000830●●●●●●
10040. 179449831 c.64640C>A p.T21547K missense 0.00000830●●●●●●
10041. 179449864 c.64607A>G p.Y21536C missense 0.00000830●●●●●●
10042. 179458782 c.58338G>T p.K19446N missense 0.00000830●●●●●●
10043. 179459187 c.58034C>T p.T19345I missense 0.00000830●●●●●●
10044. 179466211 c.55513G>A p.D18505N missense 0.00000830●●●●●●
10045. 179468685 c.54729G>T p.Q18243H missense 0.00000830●●●●●●
10046. 179472577 c.52937C>T p.A17646V missense 0.00000830●●●●●●
10047. 179472586 c.52928G>A p.R17643Q missense 0.00000830●●●●●●
10048. 179472602 c.52912G>A p.A17638T missense 0.00000830●●●●●●
10049. 179485521 c.45816T>A p.D15272E missense 0.00000830●●●●●●
10050. 179542924 c.33922C>A p.P11308T missense 0.00000830●●●●●●
10051. 179548786 c.32746G>A p.V10916I missense 0.00000830●●●●●●
10052. 179579121 c.26380T>G p.L8794V missense 0.00000830●●●●●●
10053. 179587210 c.22304C>T p.P7435L missense 0.00000830●●●●●●
10054. 179592507 c.19798A>G p.T6600A missense 0.00000830●●●●●●
10055. 179596483 c.17119T>C p.Y5707H missense 0.00000830●●●●●●
10056. 179596985 c.16711C>T p.P5571S missense 0.00000830●●●●●●
10057. 179604919 c.13041C>A p.D4347E missense 0.00000830●●●●●●
10058. 179604960 c.13000C>G p.L4334V missense 0.00000830●●●●●●
10059. 179392374 c.107479A>C p.K35827Q missense 0.00000830●●●●●●
10060. 179393004 c.107374C>A p.L35792I missense 0.00000830●●●●●●
10061. 179393590 c.106888A>G p.I35630V missense 0.00000830●●●●●●
10062. 179393614 c.106864C>G p.Q35622E missense 0.00000830●●●●●●
10063. 179393715 c.106763T>C p.I35588T missense 0.00000830●●●●●●
10064. 179393733 c.106745C>A p.T35582N missense 0.00000830●●●●●●
10065. 179394767 c.106451C>G p.T35484S missense 0.00000830●●●●●●
10066. 179395442 c.105900T>G p.I35300M missense 0.00000830●●●●●●
10067. 179395498 c.105844G>T p.V35282F missense 0.00000830●●●●●●
10068. 179395508 c.105834G>C p.Q35278H missense 0.00000830●●●●●●
10069. 179395510 c.105832C>A p.Q35278K missense 0.00000830●●●●●●
10070. 179395512 c.105830T>C p.V35277A missense 0.00000830●●●●●●
10071. 179396764 c.104578T>C p.S34860P missense 0.00000830●●●●●●
10072. 179396781 c.104561T>C p.V34854A missense 0.00000830●●●●●●
10073. 179396781 c.104561T>G p.V34854G missense 0.00000830●●●●●●
10074. 179396841 c.104501C>G p.S34834C missense 0.00000830●●●●●●
10075. 179398204 c.103138G>A p.V34380I missense 0.00000830●●●●●●
10076. 179398207 c.103135A>C p.S34379R missense 0.00000830●●●●●●
10077. 179398209 c.103133A>G p.Q34378R missense 0.00000830●●●●●●
10078. 179399410 c.101932G>A p.A33978T missense 0.00000830●●●●●●
10079. 179399452 c.101890C>G p.R33964G missense 0.00000830●●●●●●
10080. 179399452 c.101890C>T p.R33964C missense 0.00000830●●●●●●
10081. 179399461 c.101881G>A p.G33961S missense 0.00000830●●●●●●
10082. 179400489 c.100853C>T p.P33618L missense 0.00000830●●●●●●
10083. 179402374 c.99560A>G p.K33187R missense 0.00000830●●●●●●
10084. 179402404 c.99530A>G p.N33177S missense 0.00000830●●●●●●
10085. 179402417 c.99517T>A p.C33173S missense 0.00000830●●●●●●
10086. 179403314 c.99242T>G p.L33081R missense 0.00000830●●●●●●
10087. 179403734 c.98928T>G p.N32976K missense 0.00000830●●●●●●
10088. 179403943 c.98719C>G p.L32907V missense 0.00000830●●●●●●
10089. 179403947 c.98715A>T p.E32905D missense 0.00000830●●●●●●
10090. 179403947 c.98715A>C p.E32905D missense 0.00000830●●●●●●
10091. 179403949 c.98713G>C p.E32905Q missense 0.00000830●●●●●●
10092. 179403949 c.98713G>T p.E32905X nonsense 0.00000830●●●●●●
10093. 179404144 c.98648A>C p.K32883T missense 0.00000830●●●●●●
10094. 179404685 c.98107G>A p.D32703N missense 0.00000830●●●●●●
10095. 179407623 c.96958G>T p.A32320S missense 0.00000830●●●●●●
10096. 179408095 c.96605T>C p.V32202A missense 0.00000830●●●●●●
10097. 179408096 c.96604G>T p.V32202L missense 0.00000830●●●●●●
10098. 179408108 c.96592C>G p.L32198V missense 0.00000830●●●●●●
10099. 179408596 c.96275G>A p.G32092D missense 0.00000830●●●●●●
10100. 179409184 c.95772C>A p.H31924Q missense 0.00000830●●●●●●
10101. 179410394 c.95443G>A p.E31815K missense 0.00000830●●●●●●
10102. 179410565 c.95398G>A p.V31800I missense 0.00000830●●●●●●
10103. 179410733 c.95230A>G p.I31744V missense 0.00000830●●●●●●
10104. 179410737 c.95226C>A p.H31742Q missense 0.00000830●●●●●●
10105. 179410738 c.95225A>G p.H31742R missense 0.00000830●●●●●●
10106. 179410759 c.95204A>T p.D31735V missense 0.00000830●●●●●●
10107. 179410982 c.95076T>G p.N31692K missense 0.00000830●●●●●●
10108. 179410983 c.95075A>C p.N31692T missense 0.00000830●●●●●●
10109. 179411140 c.94918G>A p.G31640S missense 0.00000830●●●●●●
10110. 179411142 c.94916T>C p.V31639A missense 0.00000830●●●●●●
10111. 179411435 c.94720C>T p.L31574F missense 0.00000830●●●●●●
10112. 179411492 c.94663C>T p.R31555C missense 0.00000830●●●●●●
10113. 179411771 c.94481C>A p.A31494D missense 0.00000830●●●●●●
10114. 179411978 c.94274T>C p.M31425T missense 0.00000830●●●●●●
10115. 179412308 c.94045C>G p.R31349G missense 0.00000830●●●●●●
10116. 179412560 c.93793A>G p.T31265A missense 0.00000830●●●●●●
10117. 179412562 c.93791T>C p.I31264T missense 0.00000830●●●●●●
10118. 179412571 c.93782G>A p.R31261Q missense 0.00000830●●●●●●
10119. 179412593 c.93760A>G p.M31254V missense 0.00000830●●●●●●
10120. 179412596 c.93757G>A p.E31253K missense 0.00000830●●●●●●
10121. 179412616 c.93737A>G p.K31246R missense 0.00000830●●●●●●
10122. 179412623 c.93730G>A p.A31244T missense 0.00000830●●●●●●
10123. 179412626 c.93727C>T p.P31243S missense 0.00000830●●●●●●
10124. 179412635 c.93718A>G p.S31240G missense 0.00000830●●●●●●
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10126. 179412644 c.93709G>C p.V31237L missense 0.00000830●●●●●●
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10603. 179581974 c.25487T>C p.I8496T missense 0.00000830●●●●●●
10604. 179582044 c.25417G>A p.G8473S missense 0.00000830●●●●●●
10605. 179582058 c.25403C>T p.A8468V missense 0.00000830●●●●●●
10606. 179582696 c.25037C>T p.A8346V missense 0.00000830●●●●●●
10607. 179582831 c.24902A>T p.H8301L missense 0.00000830●●●●●●
10608. 179583078 c.24755A>G p.D8252G missense 0.00000830●●●●●●
10609. 179583170 c.24663G>A p.M8221I missense 0.00000830●●●●●●
10610. 179583175 c.24658A>G p.T8220A missense 0.00000830●●●●●●
10611. 179583178 c.24655A>G p.I8219V missense 0.00000830●●●●●●
10612. 179583220 c.24613A>G p.I8205V missense 0.00000830●●●●●●
10613. 179583243 c.24590C>A p.T8197K missense 0.00000830●●●●●●
10614. 179583249 c.24584C>T p.T8195I missense 0.00000830●●●●●●
10615. 179583250 c.24583A>G p.T8195A missense 0.00000830●●●●●●
10616. 179583253 c.24580T>C p.Y8194H missense 0.00000830●●●●●●
10617. 179583256 c.24577A>G p.T8193A missense 0.00000830●●●●●●
10618. 179583496 c.24431A>G p.E8144G missense 0.00000830●●●●●●
10619. 179583497 c.24430G>A p.E8144K missense 0.00000830●●●●●●
10620. 179583524 c.24403C>A p.L8135M missense 0.00000830●●●●●●
10621. 179584137 c.23980G>A p.V7994M missense 0.00000830●●●●●●
10622. 179584138 c.23979C>A p.D7993E missense 0.00000830●●●●●●
10623. 179584812 c.23557C>T p.L7853F missense 0.00000830●●●●●●
10624. 179584817 c.23552C>T p.A7851V missense 0.00000830●●●●●●
10625. 179584848 c.23521A>G p.N7841D missense 0.00000830●●●●●●
10626. 179584862 c.23507T>A p.I7836N missense 0.00000830●●●●●●
10627. 179584866 c.23503G>A p.V7835I missense 0.00000830●●●●●●
10628. 179584889 c.23480T>C p.V7827A missense 0.00000830●●●●●●
10629. 179584902 c.23467C>A p.P7823T missense 0.00000830●●●●●●
10630. 179584917 c.23452G>A p.V7818M missense 0.00000830●●●●●●
10631. 179585166 c.23323A>C p.K7775Q missense 0.00000830●●●●●●
10632. 179585172 c.23317C>T p.H7773Y missense 0.00000830●●●●●●
10633. 179585238 c.23251A>G p.T7751A missense 0.00000830●●●●●●
10634. 179585717 c.23029G>T p.G7677W missense 0.00000830●●●●●●
10635. 179585746 c.23000C>G p.T7667R missense 0.00000830●●●●●●
10636. 179587175 c.22339C>T p.P7447S missense 0.00000830●●●●●●
10637. 179587192 c.22322G>A p.R7441Q missense 0.00000830●●●●●●
10638. 179587193 c.22321C>T p.R7441X nonsense 0.00000830●●●●●●
10639. 179588651 c.21335G>T p.G7112V missense 0.00000830●●●●●●
10640. 179588695 c.21291T>A p.N7097K missense 0.00000830●●●●●●
10641. 179588709 c.21277A>G p.T7093A missense 0.00000830●●●●●●
10642. 179589096 c.21006C>G p.I7002M missense 0.00000830●●●●●●
10643. 179589116 c.20986T>C p.F6996L missense 0.00000830●●●●●●
10644. 179589129 c.20973C>G p.S6991R missense 0.00000830●●●●●●
10645. 179589144 c.20958G>T p.K6986N missense 0.00000830●●●●●●
10646. 179594174 c.18709A>T p.R6237W missense 0.00000830●●●●●●
10647. 179594178 c.18705T>A p.N6235K missense 0.00000830●●●●●●
10648. 179594188 c.18695G>T p.W6232L missense 0.00000830●●●●●●
10649. 179594230 c.18653T>G p.L6218R missense 0.00000830●●●●●●
10650. 179594391 c.18589G>C p.E6197Q missense 0.00000830●●●●●●
10651. 179595268 c.17992G>A p.G5998R missense 0.00000830●●●●●●
10652. 179595922 c.17470A>G p.T5824A missense 0.00000830●●●●●●
10653. 179596179 c.17314G>A p.E5772K missense 0.00000830●●●●●●
10654. 179596990 c.16706G>A p.G5569D missense 0.00000830●●●●●●
10655. 179598064 c.15956A>C p.K5319T missense 0.00000830●●●●●●
10656. 179599132 c.15419C>T p.A5140V missense 0.00000830●●●●●●
10657. 179599198 c.15353G>C p.S5118T missense 0.00000830●●●●●●
10658. 179599199 c.15352A>C p.S5118R missense 0.00000830●●●●●●
10659. 179599204 c.15347G>A p.R5116Q missense 0.00000830●●●●●●
10660. 179599550 c.15101A>G p.N5034S missense 0.00000830●●●●●●
10661. 179599561 c.15090G>A p.M5030I missense 0.00000830●●●●●●
10662. 179600568 c.14605G>C p.A4869P missense 0.00000830●●●●●●
10663. 179600690 c.14483G>C p.W4828S missense 0.00000830●●●●●●
10664. 179600699 c.14474A>C p.E4825A missense 0.00000830●●●●●●
10665. 179604095 c.13865T>C p.I4622T missense 0.00000830●●●●●●
10666. 179604101 c.13859G>T p.G4620V missense 0.00000830●●●●●●
10667. 179604117 c.13843A>G p.T4615A missense 0.00000830●●●●●●
10668. 179604123 c.13837G>A p.V4613M missense 0.00000830●●●●●●
10669. 179604270 c.13690G>A p.E4564K missense 0.00000830●●●●●●
10670. 179604293 c.13667T>C p.V4556A missense 0.00000830●●●●●●
10671. 179604303 c.13657A>G p.T4553A missense 0.00000830●●●●●●
10672. 179604336 c.13624A>G p.S4542G missense 0.00000830●●●●●●
10673. 179604357 c.13603G>A p.V4535I missense 0.00000830●●●●●●
10674. 179604375 c.13585C>G p.L4529V missense 0.00000830●●●●●●
10675. 179604815 c.13145G>T p.S4382I missense 0.00000830●●●●●●
10676. 179604816 c.13144A>G p.S4382G missense 0.00000830●●●●●●
10677. 179604819 c.13141G>C p.E4381Q missense 0.00000830●●●●●●
10678. 179604830 c.13130T>C p.L4377P missense 0.00000830●●●●●●
10679. 179604888 c.13072G>A p.E4358K missense 0.00000830●●●●●●
10680. 179604905 c.13055C>A p.P4352H missense 0.00000830●●●●●●
10681. 179604905 c.13055C>T p.P4352L missense 0.00000830●●●●●●
10682. 179604906 c.13054C>T p.P4352S missense 0.00000830●●●●●●
10683. 179604907 c.13053G>A p.M4351I missense 0.00000830●●●●●●
10684. 179604965 c.12995T>C p.L4332P missense 0.00000830●●●●●●
10685. 179605280 c.12680C>T p.T4227I missense 0.00000830●●●●●●
10686. 179605280 c.12680C>A p.T4227N missense 0.00000830●●●●●●
10687. 179605296 c.12664A>G p.M4222V missense 0.00000830●●●●●●
10688. 179605844 c.12116C>T p.P4039L missense 0.00000830●●●●●●
10689. 179605844 c.12116C>G p.P4039R missense 0.00000830●●●●●●
10690. 179605847 c.12113C>G p.T4038S missense 0.00000830●●●●●●
10691. 179605860 c.12100G>A p.D4034N missense 0.00000830●●●●●●
10692. 179605863 c.12097A>C p.T4033P missense 0.00000830●●●●●●
10693. 179605878 c.12082G>A p.V4028M missense 0.00000830●●●●●●
10694. 179605878 c.12082G>C p.V4028L missense 0.00000830●●●●●●
10695. 179606100 c.11860C>T p.P3954S missense 0.00000830●●●●●●
10696. 179606105 c.11855G>T p.G3952V missense 0.00000830●●●●●●
10697. 179606106 c.11854G>C p.G3952R missense 0.00000830●●●●●●
10698. 179606432 c.11528T>C p.V3843A missense 0.00000830●●●●●●
10699. 179606439 c.11521G>A p.V3841I missense 0.00000830●●●●●●
10700. 179621080 c.11123A>T p.Q3708L missense 0.00000830●●●●●●
10701. 179621086 c.11117T>C p.L3706P missense 0.00000830●●●●●●
10702. 179621093 c.11110G>A p.E3704K missense 0.00000830●●●●●●
10703. 179621095 c.11108C>A p.S3703Y missense 0.00000830●●●●●●
10704. 179621222 c.10981A>G p.K3661E missense 0.00000830●●●●●●
10705. 179621372 c.10831C>A p.Q3611K missense 0.00000830●●●●●●
10706. 179621423 c.10780T>G p.S3594A missense 0.00000830●●●●●●
10707. 179621425 c.10778T>G p.I3593R missense 0.00000830●●●●●●
10708. 179621434 c.10769A>T p.E3590V missense 0.00000830●●●●●●
10709. 179621455 c.10748A>G p.D3583G missense 0.00000830●●●●●●
10710. 179621455 c.10748A>C p.D3583A missense 0.00000830●●●●●●
10711. 179621459 c.10744G>A p.A3582T missense 0.00000830●●●●●●
10712. 179622355 c.10592C>G p.S3531X nonsense 0.00000830●●●●●●
10713. 179622357 c.10590C>A p.Y3530X nonsense 0.00000830●●●●●●
10714. 179622496 c.10451T>A p.F3484Y missense 0.00000830●●●●●●
10715. 179629006 c.10012C>A p.Q3338K missense 0.00000830●●●●●●
10716. 179629006 c.10012C>T p.Q3338X nonsense 0.00000830●●●●●●
10717. 179634436 c.8872G>A p.D2958N missense 0.00000830●●●●●●
10718. 179634443 c.8865T>G p.C2955W missense 0.00000830●●●●●●
10719. 179637910 c.7781T>C p.M2594T missense 0.00000830●●●●●●
10720. 179639159 c.6832G>A p.V2278I missense 0.00000830●●●●●●
10721. 179639159 c.6832G>T p.V2278F missense 0.00000830●●●●●●
10722. 179641711 c.4880G>A p.W1627X nonsense 0.00000830●●●●●●
10723. 179641748 c.4843C>T p.L1615F missense 0.00000830●●●●●●
10724. 179641754 c.4837G>A p.A1613T missense 0.00000830●●●●●●
10725. 179643977 c.3942G>A p.M1314I missense 0.00000830●●●●●●
10726. 179649053 c.2519C>G p.A840G missense 0.00000830●●●●●●
10727. 179659678 c.1216G>C p.A406P missense 0.00000830●●●●●●
10728. 179659683 c.1211A>G p.Y404C missense 0.00000830●●●●●●
10729. 179665326 c.379G>A p.V127M missense 0.00000830●●●●●●
10730. 179667036 c.124G>A p.D42N missense 0.00000830●●●●●●
10731. 179396802 c.104540_104541insATAT p.Tyr34847Ter frameshift 0.00000830●●●●●●
10732. 179396834 c.104508_104510delACT p.Leu34837del inframe 0.00000830●●●●●●
10733. 179398200 c.103142_103144delGCT p.Cys34381del inframe 0.00000830●●●●●●
10734. 179422843 c.87238delA p.Arg29080GlufsTer10 frameshift 0.00000830●●●●●●
10735. 179434858 c.76001_76003delGTG p.Ser25334_Glu25335delinsLys inframe 0.00000830●●●●●●
10736. 179435377 c.75482delA p.Lys25161ArgfsTer11 frameshift 0.00000830●●●●●●
10737. 179443690 c.68067_68069delCAA p.Asn22689del inframe 0.00000830●●●●●●
10738. 179481675 c.47941_47942insTCA p.Ile15980dup inframe 0.00000830●●●●●●
10739. 179485505 c.45832_45834delAAT p.Asn15278del inframe 0.00000830●●●●●●
10740. 179544670 c.33531_33533delAGA p.Glu11179del inframe 0.00000830●●●●●●
10741. 179546397 c.33163_33164insAAAAC p.Pro11055GlnfsTer7 frameshift 0.00000830●●●●●●
10742. 179586645 c.22745_22746delCT p.Ser7582TrpfsTer10 frameshift 0.00000830●●●●●●
10743. 179596031 c.17461+1G>C essential splice site 0.00000830●●●●●●
10744. 179596031 c.17461+1G>T essential splice site 0.00000830●●●●●●
10745. 179598068 c.15952delC p.Leu5318SerfsTer34 frameshift 0.00000830●●●●●●
10746. 179599555 c.15096delT p.Phe5032LeufsTer13 frameshift 0.00000830●●●●●●
10747. 179604274 c.13686delT p.Asp4563ThrfsTer8 frameshift 0.00000830●●●●●●
10748. 179604825 c.13135dupT p.Ser4379PhefsTer2 frameshift 0.00000830●●●●●●
10749. 179605889 c.12071delC p.Ala4024GlufsTer12 frameshift 0.00000830●●●●●●
10750. 179621082 c.11121delA p.Lys3707AsnfsTer19 frameshift 0.00000830●●●●●●
10751. 179621119 c.11084_11085insA p.His3695GlnfsTer27 frameshift 0.00000830●●●●●●
10752. 179637835 c.7855+1G>A essential splice site 0.00000830●●●●●●
10753. 179638587 c.7308delC p.Ser2437ValfsTer11 frameshift 0.00000830●●●●●●
10754. 179641750 c.4841_4842insTGC p.Ala1614dup inframe 0.00000830●●●●●●
10755. 179647781 c.2852dupA p.Asn951LysfsTer8 frameshift 0.00000830●●●●●●
10756. 179393002 c.107376T>C splice site 0.00000830●●●●●●
10757. 179441642 c.69412+8G>A splice site 0.00000830●●●●●●
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10759. 179444282 c.67636+6G>T splice site 0.00000830●●●●●●
10760. 179444282 c.67636+6G>A splice site 0.00000830●●●●●●
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10764. 179498061 c.42947-8C>A splice site 0.00000830●●●●●●
10765. 179553396 c.32197+8delA splice site 0.00000830●●●●●●
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10767. 179560067 c.31270+8delA splice site 0.00000830●●●●●●
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10772. 179396329 c.105013C>T p.H35005Y missense 0.00000829●●●●●●
10773. 179399764 c.101578G>A p.V33860I missense 0.00000829●●●●●●
10774. 179416680 c.90947T>C p.I30316T missense 0.00000829●●●●●●
10775. 179417415 c.90212G>A p.G30071D missense 0.00000829●●●●●●
10776. 179455726 c.60726T>A p.Y20242X nonsense 0.00000829●●●●●●
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10779. 179638441 c.7342A>G p.I2448V missense 0.00000829●●●●●●
10780. 179604264 c.13696C>T p.Q4566X nonsense 0.00000829●●●●●●
10781. 179409138 c.95818G>A p.D31940N missense 0.00000829●●●●●●
10782. 179554548 c.31838C>A p.P10613Q missense 0.00000829●●●●●●
10783. 179582807 c.24926C>T p.A8309V missense 0.00000829●●●●●●
10784. 179404493 c.98299_98300delAG p.Arg32767fs frameshift 0.00000829●●●●●●
10785. 179397931 c.103411C>T p.R34471X nonsense 0.00000829●●●●●●
10786. 179428279 c.82580T>C p.L27527P missense 0.00000829●●●●●●
10787. 179440616 c.70243A>C p.M23415L missense 0.00000829●●●●●●
10788. 179392223 c.107630T>C p.M35877T missense 0.00000829●●●●●●
10789. 179394729 c.106489T>G p.S35497A missense 0.00000829●●●●●●
10790. 179395375 c.105967G>A p.G35323S missense 0.00000829●●●●●●
10791. 179395567 c.105775T>C p.S35259P missense 0.00000829●●●●●●
10792. 179397522 c.103820C>T p.P34607L missense 0.00000829●●●●●●
10793. 179397580 c.103762G>T p.V34588L missense 0.00000829●●●●●●
10794. 179398065 c.103277C>T p.T34426I missense 0.00000829●●●●●●
10795. 179398313 c.103029C>A p.S34343R missense 0.00000829●●●●●●
10796. 179398497 c.102845C>A p.T34282N missense 0.00000829●●●●●●
10797. 179398704 c.102638A>G p.N34213S missense 0.00000829●●●●●●
10798. 179399322 c.102020T>C p.V34007A missense 0.00000829●●●●●●
10799. 179404393 c.98399A>C p.E32800A missense 0.00000829●●●●●●
10800. 179407545 c.97036A>C p.K32346Q missense 0.00000829●●●●●●
10801. 179409003 c.95953G>A p.V31985I missense 0.00000829●●●●●●
10802. 179409038 c.95918C>T p.P31973L missense 0.00000829●●●●●●
10803. 179410375 c.95462A>G p.K31821R missense 0.00000829●●●●●●
10804. 179410712 c.95251A>T p.S31751C missense 0.00000829●●●●●●
10805. 179412413 c.93940G>A p.G31314S missense 0.00000829●●●●●●
10806. 179412487 c.93866C>A p.T31289N missense 0.00000829●●●●●●
10807. 179413019 c.93334G>A p.E31112K missense 0.00000829●●●●●●
10808. 179413474 c.92879G>A p.S30960N missense 0.00000829●●●●●●
10809. 179414062 c.92291C>A p.T30764K missense 0.00000829●●●●●●
10810. 179414377 c.92072A>G p.Q30691R missense 0.00000829●●●●●●
10811. 179414386 c.92063A>G p.N30688S missense 0.00000829●●●●●●
10812. 179416461 c.91166T>C p.L30389P missense 0.00000829●●●●●●
10813. 179418019 c.89608A>G p.T29870A missense 0.00000829●●●●●●
10814. 179419314 c.88760A>G p.H29587R missense 0.00000829●●●●●●
10815. 179419336 c.88738G>A p.V29580M missense 0.00000829●●●●●●
10816. 179422099 c.87890T>A p.F29297Y missense 0.00000829●●●●●●
10817. 179422789 c.87292G>A p.E29098K missense 0.00000829●●●●●●
10818. 179424925 c.85934C>T p.A28645V missense 0.00000829●●●●●●
10819. 179425787 c.85072A>T p.M28358L missense 0.00000829●●●●●●
10820. 179428205 c.82654G>A p.V27552M missense 0.00000829●●●●●●
10821. 179428455 c.82404G>T p.K27468N missense 0.00000829●●●●●●
10822. 179428672 c.82187A>T p.Q27396L missense 0.00000829●●●●●●
10823. 179428673 c.82186C>G p.Q27396E missense 0.00000829●●●●●●
10824. 179428769 c.82090G>A p.V27364I missense 0.00000829●●●●●●
10825. 179428916 c.81943G>T p.E27315X nonsense 0.00000829●●●●●●
10826. 179429042 c.81817C>T p.P27273S missense 0.00000829●●●●●●
10827. 179429050 c.81809T>C p.I27270T missense 0.00000829●●●●●●
10828. 179429995 c.80864C>T p.T26955I missense 0.00000829●●●●●●
10829. 179430040 c.80819A>T p.K26940I missense 0.00000829●●●●●●
10830. 179430071 c.80788G>A p.E26930K missense 0.00000829●●●●●●
10831. 179430139 c.80720C>A p.P26907Q missense 0.00000829●●●●●●
10832. 179430766 c.80093A>T p.D26698V missense 0.00000829●●●●●●
10833. 179431312 c.79547G>C p.G26516A missense 0.00000829●●●●●●
10834. 179431343 c.79516C>T p.L26506F missense 0.00000829●●●●●●
10835. 179432564 c.78295A>G p.M26099V missense 0.00000829●●●●●●
10836. 179432569 c.78290C>A p.P26097Q missense 0.00000829●●●●●●
10837. 179432573 c.78286G>A p.E26096K missense 0.00000829●●●●●●
10838. 179433656 c.77203G>A p.V25735M missense 0.00000829●●●●●●
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11764. 179596627 c.16975G>A p.E5659K missense 0.00000829●●●●●●
11765. 179596863 c.16833T>A p.S5611R missense 0.00000829●●●●●●
11766. 179596961 c.16735G>T p.A5579S missense 0.00000829●●●●●●
11767. 179596970 c.16726A>G p.T5576A missense 0.00000829●●●●●●
11768. 179598087 c.15933T>G p.F5311L missense 0.00000829●●●●●●
11769. 179598094 c.15926T>A p.I5309K missense 0.00000829●●●●●●
11770. 179598095 c.15925A>G p.I5309V missense 0.00000829●●●●●●
11771. 179598136 c.15884A>G p.Y5295C missense 0.00000829●●●●●●
11772. 179598385 c.15731A>G p.N5244S missense 0.00000829●●●●●●
11773. 179598392 c.15724G>A p.A5242T missense 0.00000829●●●●●●
11774. 179598400 c.15716C>T p.T5239M missense 0.00000829●●●●●●
11775. 179598400 c.15716C>A p.T5239K missense 0.00000829●●●●●●
11776. 179598409 c.15707G>A p.G5236D missense 0.00000829●●●●●●
11777. 179598536 c.15580T>A p.S5194T missense 0.00000829●●●●●●
11778. 179599144 c.15407C>T p.S5136L missense 0.00000829●●●●●●
11779. 179599159 c.15392G>A p.C5131Y missense 0.00000829●●●●●●
11780. 179599163 c.15388G>A p.V5130M missense 0.00000829●●●●●●
11781. 179599186 c.15365G>A p.R5122K missense 0.00000829●●●●●●
11782. 179599485 c.15166G>A p.A5056T missense 0.00000829●●●●●●
11783. 179600624 c.14549A>T p.H4850L missense 0.00000829●●●●●●
11784. 179600660 c.14513C>T p.S4838L missense 0.00000829●●●●●●
11785. 179600673 c.14500G>T p.A4834S missense 0.00000829●●●●●●
11786. 179604122 c.13838T>C p.V4613A missense 0.00000829●●●●●●
11787. 179604132 c.13828A>G p.T4610A missense 0.00000829●●●●●●
11788. 179604170 c.13790A>C p.E4597A missense 0.00000829●●●●●●
11789. 179604206 c.13754C>T p.T4585I missense 0.00000829●●●●●●
11790. 179604219 c.13741T>C p.S4581P missense 0.00000829●●●●●●
11791. 179604227 c.13733A>G p.E4578G missense 0.00000829●●●●●●
11792. 179604231 c.13729G>A p.E4577K missense 0.00000829●●●●●●
11793. 179604243 c.13717T>C p.S4573P missense 0.00000829●●●●●●
11794. 179604262 c.13698A>C p.Q4566H missense 0.00000829●●●●●●
11795. 179604372 c.13588A>T p.I4530F missense 0.00000829●●●●●●
11796. 179604410 c.13550A>G p.E4517G missense 0.00000829●●●●●●
11797. 179604411 c.13549G>A p.E4517K missense 0.00000829●●●●●●
11798. 179604415 c.13545G>C p.K4515N missense 0.00000829●●●●●●
11799. 179604415 c.13545G>T p.K4515N missense 0.00000829●●●●●●
11800. 179604439 c.13521G>A p.M4507I missense 0.00000829●●●●●●
11801. 179604450 c.13510C>A p.Q4504K missense 0.00000829●●●●●●
11802. 179604459 c.13501A>G p.T4501A missense 0.00000829●●●●●●
11803. 179604464 c.13496C>A p.A4499D missense 0.00000829●●●●●●
11804. 179604513 c.13447G>A p.E4483K missense 0.00000829●●●●●●
11805. 179604519 c.13441A>G p.I4481V missense 0.00000829●●●●●●
11806. 179604525 c.13435G>A p.A4479T missense 0.00000829●●●●●●
11807. 179604539 c.13421G>C p.R4474T missense 0.00000829●●●●●●
11808. 179604548 c.13412T>A p.M4471K missense 0.00000829●●●●●●
11809. 179604618 c.13342G>A p.A4448T missense 0.00000829●●●●●●
11810. 179604620 c.13340C>G p.S4447W missense 0.00000829●●●●●●
11811. 179604635 c.13325T>G p.M4442R missense 0.00000829●●●●●●
11812. 179604640 c.13320G>A p.M4440I missense 0.00000829●●●●●●
11813. 179604687 c.13273G>T p.V4425L missense 0.00000829●●●●●●
11814. 179604706 c.13254G>T p.W4418C missense 0.00000829●●●●●●
11815. 179604733 c.13227C>A p.S4409R missense 0.00000829●●●●●●
11816. 179604995 c.12965T>C p.I4322T missense 0.00000829●●●●●●
11817. 179605329 c.12631G>T p.G4211W missense 0.00000829●●●●●●
11818. 179605334 c.12626C>A p.P4209H missense 0.00000829●●●●●●
11819. 179605400 c.12560G>A p.S4187N missense 0.00000829●●●●●●
11820. 179605401 c.12559A>C p.S4187R missense 0.00000829●●●●●●
11821. 179605403 c.12557C>T p.P4186L missense 0.00000829●●●●●●
11822. 179605404 c.12556C>T p.P4186S missense 0.00000829●●●●●●
11823. 179605482 c.12478A>G p.T4160A missense 0.00000829●●●●●●
11824. 179605488 c.12472C>G p.Q4158E missense 0.00000829●●●●●●
11825. 179605499 c.12461T>A p.I4154N missense 0.00000829●●●●●●
11826. 179605514 c.12446A>G p.N4149S missense 0.00000829●●●●●●
11827. 179605551 c.12409A>G p.S4137G missense 0.00000829●●●●●●
11828. 179605555 c.12405T>G p.N4135K missense 0.00000829●●●●●●
11829. 179605556 c.12404A>T p.N4135I missense 0.00000829●●●●●●
11830. 179605562 c.12398G>T p.C4133F missense 0.00000829●●●●●●
11831. 179605569 c.12391T>A p.F4131I missense 0.00000829●●●●●●
11832. 179605571 c.12389A>T p.E4130V missense 0.00000829●●●●●●
11833. 179605586 c.12374C>G p.P4125R missense 0.00000829●●●●●●
11834. 179605587 c.12373C>T p.P4125S missense 0.00000829●●●●●●
11835. 179605602 c.12358C>T p.Q4120X nonsense 0.00000829●●●●●●
11836. 179605631 c.12329G>T p.G4110V missense 0.00000829●●●●●●
11837. 179605648 c.12312C>A p.S4104R missense 0.00000829●●●●●●
11838. 179605751 c.12209A>G p.E4070G missense 0.00000829●●●●●●
11839. 179605752 c.12208G>A p.E4070K missense 0.00000829●●●●●●
11840. 179605778 c.12182C>G p.A4061G missense 0.00000829●●●●●●
11841. 179605784 c.12176G>A p.G4059D missense 0.00000829●●●●●●
11842. 179605785 c.12175G>A p.G4059S missense 0.00000829●●●●●●
11843. 179606214 c.11746C>G p.H3916D missense 0.00000829●●●●●●
11844. 179606226 c.11734A>G p.K3912E missense 0.00000829●●●●●●
11845. 179606267 c.11693A>G p.Y3898C missense 0.00000829●●●●●●
11846. 179606276 c.11684G>A p.S3895N missense 0.00000829●●●●●●
11847. 179606277 c.11683A>T p.S3895C missense 0.00000829●●●●●●
11848. 179606307 c.11653G>C p.E3885Q missense 0.00000829●●●●●●
11849. 179606312 c.11648A>G p.K3883R missense 0.00000829●●●●●●
11850. 179606322 c.11638C>G p.L3880V missense 0.00000829●●●●●●
11851. 179606325 c.11635A>G p.I3879V missense 0.00000829●●●●●●
11852. 179606345 c.11615G>T p.G3872V missense 0.00000829●●●●●●
11853. 179606346 c.11614G>A p.G3872S missense 0.00000829●●●●●●
11854. 179606355 c.11605G>C p.V3869L missense 0.00000829●●●●●●
11855. 179606360 c.11600A>G p.K3867R missense 0.00000829●●●●●●
11856. 179606364 c.11596T>C p.Y3866H missense 0.00000829●●●●●●
11857. 179606370 c.11590G>C p.A3864P missense 0.00000829●●●●●●
11858. 179606390 c.11570G>A p.G3857E missense 0.00000829●●●●●●
11859. 179606391 c.11569G>A p.G3857R missense 0.00000829●●●●●●
11860. 179606411 c.11549A>G p.K3850R missense 0.00000829●●●●●●
11861. 179620996 c.11207A>G p.N3736S missense 0.00000829●●●●●●
11862. 179621048 c.11155A>G p.I3719V missense 0.00000829●●●●●●
11863. 179621051 c.11152A>G p.T3718A missense 0.00000829●●●●●●
11864. 179622370 c.10577T>A p.I3526K missense 0.00000829●●●●●●
11865. 179622379 c.10568T>G p.L3523X nonsense 0.00000829●●●●●●
11866. 179622395 c.10552T>A p.S3518T missense 0.00000829●●●●●●
11867. 179622413 c.10534G>A p.V3512I missense 0.00000829●●●●●●
11868. 179622419 c.10528G>T p.D3510Y missense 0.00000829●●●●●●
11869. 179622428 c.10519C>T p.P3507S missense 0.00000829●●●●●●
11870. 179637856 c.7835C>T p.S2612F missense 0.00000829●●●●●●
11871. 179637857 c.7834T>C p.S2612P missense 0.00000829●●●●●●
11872. 179637880 c.7811T>C p.F2604S missense 0.00000829●●●●●●
11873. 179637884 c.7807A>G p.T2603A missense 0.00000829●●●●●●
11874. 179642015 c.4675G>A p.V1559I missense 0.00000829●●●●●●
11875. 179642260 c.4532G>A p.G1511D missense 0.00000829●●●●●●
11876. 179642637 c.4274C>T p.A1425V missense 0.00000829●●●●●●
11877. 179643999 c.3920G>A p.G1307D missense 0.00000829●●●●●●
11878. 179649050 c.2522C>A p.T841K missense 0.00000829●●●●●●
11879. 179650799 c.2146G>C p.E716Q missense 0.00000829●●●●●●
11880. 179659691 c.1203T>A p.S401R missense 0.00000829●●●●●●
11881. 179659693 c.1201A>G p.S401G missense 0.00000829●●●●●●
11882. 179665322 c.383C>A p.T128N missense 0.00000829●●●●●●
11883. 179665322 c.383C>G p.T128S missense 0.00000829●●●●●●
11884. 179394686 c.106531+1G>A essential splice site 0.00000829●●●●●●
11885. 179395318 c.106024delT p.Tyr35342MetfsTer63 frameshift 0.00000829●●●●●●
11886. 179395538 c.105804_105805delGA p.Glu35268AspfsTer30 frameshift 0.00000829●●●●●●
11887. 179395537 c.105805delA p.Thr35269GlnfsTer24 frameshift 0.00000829●●●●●●
11888. 179397421 c.103921_103923delTCT p.Ser34641del inframe 0.00000829●●●●●●
11889. 179399072 c.102270_102271insAC p.Arg34091ThrfsTer8 frameshift 0.00000829●●●●●●
11890. 179399108 c.102234_102237delAAGA p.Arg34079SerfsTer9 frameshift 0.00000829●●●●●●
11891. 179404493 c.98299delA p.Arg32767GlyfsTer26 frameshift 0.00000829●●●●●●
11892. 179412505 c.93848_93849delCT p.Ser31283TrpfsTer14 frameshift 0.00000829●●●●●●
11893. 179412544 c.93809_93810delGA p.Arg31270AsnfsTer12 frameshift 0.00000829●●●●●●
11894. 179412551 c.93802_93803insCAA p.Thr31267dup inframe 0.00000829●●●●●●
11895. 179414935 c.91630_91632delCTT p.Leu30544del inframe 0.00000829●●●●●●
11896. 179416530 c.91097_91100delGAAA p.Arg30366IlefsTer24 frameshift 0.00000829●●●●●●
11897. 179417372 c.90255_90256delAT p.Cys30086Ter frameshift 0.00000829●●●●●●
11898. 179417441 c.90186_90188delCAC p.Thr30063del inframe 0.00000829●●●●●●
11899. 179419298 c.88776_88778delCAT p.Ile29593del inframe 0.00000829●●●●●●
11900. 179424240 c.86619_86621delTGG p.Gly28874del inframe 0.00000829●●●●●●
11901. 179425795 c.85064delC p.Pro28355GlnfsTer4 frameshift 0.00000829●●●●●●
11902. 179428494 c.82365delC p.Leu27456TrpfsTer32 frameshift 0.00000829●●●●●●
11903. 179429002 c.81857_81858insCATCGT p.Ile27285_Val27286dup inframe 0.00000829●●●●●●
11904. 179430268 c.80591_80593delCAA p.Pro26864del inframe 0.00000829●●●●●●
11905. 179430290 c.80569_80571delAAT p.Asn26857del inframe 0.00000829●●●●●●
11906. 179430450 c.80409delA p.Lys26803AsnfsTer41 frameshift 0.00000829●●●●●●
11907. 179433653 c.77206_77208dupGAA p.Glu25736dup inframe 0.00000829●●●●●●
11908. 179435935 c.74924_74926delAAG p.Glu24975del inframe 0.00000829●●●●●●
11909. 179439161 c.71698delC p.Arg23900GlyfsTer2 frameshift 0.00000829●●●●●●
11910. 179474603 c.51547_51548delAT p.Ile17183HisfsTer6 frameshift 0.00000829●●●●●●
11911. 179542496 c.34143_34145delAGA p.Glu11383del inframe 0.00000829●●●●●●
11912. 179544979 c.33418+2T>A essential splice site 0.00000829●●●●●●
11913. 179553468 c.32133dupA p.Phe10712IlefsTer4 frameshift 0.00000829●●●●●●
11914. 179553474 c.32127_32131delAAAGA p.Lys10710IlefsTer4 frameshift 0.00000829●●●●●●
11915. 179566315 c.30539-1G>A essential splice site 0.00000829●●●●●●
11916. 179566974 c.30434-2A>G essential splice site 0.00000829●●●●●●
11917. 179569677 c.29621_29624delAGAG p.Glu9874GlyfsTer28 frameshift 0.00000829●●●●●●
11918. 179582014 c.25447delG p.Ala8483HisfsTer22 frameshift 0.00000829●●●●●●
11919. 179583125 c.24708_24710delGGA p.Glu8236del inframe 0.00000829●●●●●●
11920. 179595728 c.17664delA p.Asp5889IlefsTer25 frameshift 0.00000829●●●●●●
11921. 179604228 c.13732_13734delGAG p.Glu4578del inframe 0.00000829●●●●●●
11922. 179604255 c.13705_13706delAG p.Leu4570GlufsTer12 frameshift 0.00000829●●●●●●
11923. 179622431 c.10516delC p.Leu3506TyrfsTer6 frameshift 0.00000829●●●●●●
11924. 179664638 c.584-1G>T essential splice site 0.00000829●●●●●●
11925. 179394681 c.106531+6T>G splice site 0.00000829●●●●●●
11926. 179422288 c.87707-6T>C splice site 0.00000829●●●●●●
11927. 179449392 c.64972+4T>C splice site 0.00000829●●●●●●
11928. 179498537 c.42682+7G>A splice site 0.00000829●●●●●●
11929. 179499447 c.42151+3A>G splice site 0.00000829●●●●●●
11930. 179516912 c.39212-6T>C splice site 0.00000829●●●●●●
11931. 179544977 c.33418+4C>G splice site 0.00000829●●●●●●
11932. 179552950 c.32199A>G splice site 0.00000829●●●●●●
11933. 179552959 c.32198-8T>A splice site 0.00000829●●●●●●
11934. 179553401 c.32197+3A>G splice site 0.00000829●●●●●●
11935. 179566322 c.30539-8C>T splice site 0.00000829●●●●●●
11936. 179567174 c.30433+7delT splice site 0.00000829●●●●●●
11937. 179569699 c.29605-6_29605-4delTCT splice site 0.00000829●●●●●●
11938. 179632481 c.9471+5T>G splice site 0.00000829●●●●●●
11939. 179639665 c.6773C>T p.A2258V missense 0.00000828●●●●●●
11940. 179416554 c.91073G>A p.G30358E missense 0.00000828●●●●●●
11941. 179396259 c.105083C>T p.T35028M missense 0.00000828●●●●●●
11942. 179396475 c.104867G>A p.G34956D missense 0.00000828●●●●●●
11943. 179567210 c.30404C>T p.T10135I missense 0.00000828●●●●●●
11944. 179649045 c.2527C>G p.Q843E missense 0.00000828●●●●●●
11945. 179397856 c.103486A>G p.T34496A missense 0.00000828●●●●●●
11946. 179398891 c.102451G>C p.G34151R missense 0.00000828●●●●●●
11947. 179404966 c.97927G>T p.D32643Y missense 0.00000828●●●●●●
11948. 179431049 c.79810G>A p.V26604I missense 0.00000828●●●●●●
11949. 179404280 c.98512G>C p.V32838L missense 0.00000828●●●●●●
11950. 179392260 c.107593G>A p.E35865K missense 0.00000828●●●●●●
11951. 179395083 c.106259C>G p.P35420R missense 0.00000828●●●●●●
11952. 179396031 c.105311T>C p.M35104T missense 0.00000828●●●●●●
11953. 179396512 c.104830A>G p.I34944V missense 0.00000828●●●●●●
11954. 179397682 c.103660G>C p.E34554Q missense 0.00000828●●●●●●
11955. 179398915 c.102427A>T p.M34143L missense 0.00000828●●●●●●
11956. 179399164 c.102178T>C p.S34060P missense 0.00000828●●●●●●
11957. 179399217 c.102125T>C p.I34042T missense 0.00000828●●●●●●
11958. 179399813 c.101529G>C p.K33843N missense 0.00000828●●●●●●
11959. 179400105 c.101237G>A p.R33746H missense 0.00000828●●●●●●
11960. 179400447 c.100895G>A p.G33632E missense 0.00000828●●●●●●
11961. 179403350 c.99206A>G p.Y33069C missense 0.00000828●●●●●●
11962. 179404216 c.98576G>A p.G32859D missense 0.00000828●●●●●●
11963. 179410263 c.95574C>G p.N31858K missense 0.00000828●●●●●●
11964. 179411907 c.94345G>C p.E31449Q missense 0.00000828●●●●●●
11965. 179422714 c.87367A>G p.S29123G missense 0.00000828●●●●●●
11966. 179422773 c.87308A>G p.N29103S missense 0.00000828●●●●●●
11967. 179427895 c.82964G>A p.G27655D missense 0.00000828●●●●●●
11968. 179428388 c.82471G>T p.A27491S missense 0.00000828●●●●●●
11969. 179430341 c.80518G>A p.V26840I missense 0.00000828●●●●●●
11970. 179430536 c.80323G>A p.V26775M missense 0.00000828●●●●●●
11971. 179430848 c.80011T>C p.S26671P missense 0.00000828●●●●●●
11972. 179440230 c.70629C>G p.D23543E missense 0.00000828●●●●●●
11973. 179498669 c.42557C>A p.T14186K missense 0.00000828●●●●●●
11974. 179517000 c.39202C>G p.P13068A missense 0.00000828●●●●●●
11975. 179554576 c.31810C>G p.P10604A missense 0.00000828●●●●●●
11976. 179565855 c.30674G>A p.R10225H missense 0.00000828●●●●●●
11977. 179568901 c.30196G>C p.E10066Q missense 0.00000828●●●●●●
11978. 179571374 c.29227G>A p.G9743S missense 0.00000828●●●●●●
11979. 179575969 c.27994G>A p.V9332M missense 0.00000828●●●●●●
11980. 179575973 c.27990C>G p.I9330M missense 0.00000828●●●●●●
11981. 179575986 c.27977G>T p.G9326V missense 0.00000828●●●●●●
11982. 179579833 c.26080G>C p.E8694Q missense 0.00000828●●●●●●
11983. 179582758 c.24975A>T p.K8325N missense 0.00000828●●●●●●
11984. 179582782 c.24951C>G p.N8317K missense 0.00000828●●●●●●
11985. 179584396 c.23823T>A p.N7941K missense 0.00000828●●●●●●
11986. 179596555 c.17047T>G p.Y5683D missense 0.00000828●●●●●●
11987. 179596946 c.16750A>G p.I5584V missense 0.00000828●●●●●●
11988. 179598428 c.15688G>A p.V5230I missense 0.00000828●●●●●●
11989. 179598430 c.15686A>C p.D5229A missense 0.00000828●●●●●●
11990. 179399863 c.101479C>T p.R33827C missense 0.00000828●●●●●●
11991. 179396206 c.105136G>A p.E35046K missense 0.00000828●●●●●●
11992. 179397871 c.103471G>A p.E34491K missense 0.00000828●●●●●●
11993. 179398912 c.102430C>T p.H34144Y missense 0.00000828●●●●●●
11994. 179399842 c.101500C>T p.H33834Y missense 0.00000828●●●●●●
11995. 179399988 c.101354A>G p.D33785G missense 0.00000828●●●●●●
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12460. 179575431 c.28393G>C p.G9465R missense 0.00000828●●●●●●
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12463. 179575458 c.28366G>T p.V9456F missense 0.00000828●●●●●●
12464. 179575523 c.28301G>T p.S9434I missense 0.00000828●●●●●●
12465. 179575527 c.28297G>C p.D9433H missense 0.00000828●●●●●●
12466. 179575899 c.28064C>T p.T9355I missense 0.00000828●●●●●●
12467. 179575917 c.28046C>T p.T9349I missense 0.00000828●●●●●●
12468. 179575959 c.28004A>G p.Y9335C missense 0.00000828●●●●●●
12469. 179577098 c.27551G>A p.C9184Y missense 0.00000828●●●●●●
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12474. 179579796 c.26117A>T p.D8706V missense 0.00000828●●●●●●
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12476. 179579844 c.26069A>G p.K8690R missense 0.00000828●●●●●●
12477. 179579854 c.26059A>C p.K8687Q missense 0.00000828●●●●●●
12478. 179579883 c.26030A>G p.Y8677C missense 0.00000828●●●●●●
12479. 179579904 c.26009C>A p.P8670H missense 0.00000828●●●●●●
12480. 179579907 c.26006C>T p.T8669I missense 0.00000828●●●●●●
12481. 179582730 c.25003T>G p.S8335A missense 0.00000828●●●●●●
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12486. 179584048 c.24069T>A p.N8023K missense 0.00000828●●●●●●
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12488. 179584079 c.24038C>T p.P8013L missense 0.00000828●●●●●●
12489. 179584083 c.24034G>C p.A8012P missense 0.00000828●●●●●●
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12494. 179586678 c.22712A>C p.H7571P missense 0.00000828●●●●●●
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12496. 179586697 c.22693T>A p.C7565S missense 0.00000828●●●●●●
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12500. 179592429 c.19876G>A p.G6626R missense 0.00000828●●●●●●
12501. 179592441 c.19864A>T p.I6622F missense 0.00000828●●●●●●
12502. 179592444 c.19861T>C p.F6621L missense 0.00000828●●●●●●
12503. 179592465 c.19840C>A p.L6614I missense 0.00000828●●●●●●
12504. 179592470 c.19835T>A p.V6612E missense 0.00000828●●●●●●
12505. 179592476 c.19829A>T p.D6610V missense 0.00000828●●●●●●
12506. 179592478 c.19827G>T p.K6609N missense 0.00000828●●●●●●
12507. 179596061 c.17432A>C p.Q5811P missense 0.00000828●●●●●●
12508. 179596067 c.17426G>T p.G5809V missense 0.00000828●●●●●●
12509. 179596083 c.17410G>T p.A5804S missense 0.00000828●●●●●●
12510. 179596100 c.17393G>C p.G5798A missense 0.00000828●●●●●●
12511. 179596100 c.17393G>T p.G5798V missense 0.00000828●●●●●●
12512. 179596104 c.17389G>A p.D5797N missense 0.00000828●●●●●●
12513. 179596125 c.17368A>C p.S5790R missense 0.00000828●●●●●●
12514. 179596125 c.17368A>G p.S5790G missense 0.00000828●●●●●●
12515. 179596128 c.17365C>G p.L5789V missense 0.00000828●●●●●●
12516. 179596137 c.17356A>G p.S5786G missense 0.00000828●●●●●●
12517. 179596137 c.17356A>C p.S5786R missense 0.00000828●●●●●●
12518. 179596548 c.17054C>G p.T5685S missense 0.00000828●●●●●●
12519. 179596565 c.17037T>G p.S5679R missense 0.00000828●●●●●●
12520. 179596584 c.17018A>G p.D5673G missense 0.00000828●●●●●●
12521. 179596592 c.17010G>T p.W5670C missense 0.00000828●●●●●●
12522. 179596907 c.16789T>C p.S5597P missense 0.00000828●●●●●●
12523. 179598449 c.15667G>A p.A5223T missense 0.00000828●●●●●●
12524. 179598454 c.15662G>A p.G5221D missense 0.00000828●●●●●●
12525. 179598461 c.15655T>C p.S5219P missense 0.00000828●●●●●●
12526. 179598475 c.15641T>A p.I5214N missense 0.00000828●●●●●●
12527. 179598511 c.15605T>C p.M5202T missense 0.00000828●●●●●●
12528. 179598511 c.15605T>A p.M5202K missense 0.00000828●●●●●●
12529. 179604465 c.13495G>A p.A4499T missense 0.00000828●●●●●●
12530. 179604465 c.13495G>T p.A4499S missense 0.00000828●●●●●●
12531. 179604492 c.13468G>A p.A4490T missense 0.00000828●●●●●●
12532. 179604588 c.13372A>G p.I4458V missense 0.00000828●●●●●●
12533. 179606151 c.11809C>T p.P3937S missense 0.00000828●●●●●●
12534. 179606157 c.11803C>T p.P3935S missense 0.00000828●●●●●●
12535. 179606204 c.11756C>T p.T3919I missense 0.00000828●●●●●●
12536. 179629479 c.9763C>A p.P3255T missense 0.00000828●●●●●●
12537. 179629481 c.9761A>C p.K3254T missense 0.00000828●●●●●●
12538. 179632861 c.9185A>G p.K3062R missense 0.00000828●●●●●●
12539. 179632865 c.9181A>G p.R3061G missense 0.00000828●●●●●●
12540. 179638594 c.7301T>A p.L2434H missense 0.00000828●●●●●●
12541. 179639146 c.6845A>C p.Y2282S missense 0.00000828●●●●●●
12542. 179639654 c.6784G>A p.V2262I missense 0.00000828●●●●●●
12543. 179639656 c.6782T>C p.I2261T missense 0.00000828●●●●●●
12544. 179641675 c.4916A>T p.D1639V missense 0.00000828●●●●●●
12545. 179641688 c.4903A>G p.K1635E missense 0.00000828●●●●●●
12546. 179642279 c.4513G>T p.V1505L missense 0.00000828●●●●●●
12547. 179642296 c.4496A>G p.N1499S missense 0.00000828●●●●●●
12548. 179643620 c.4189G>C p.E1397Q missense 0.00000828●●●●●●
12549. 179644033 c.3886A>G p.R1296G missense 0.00000828●●●●●●
12550. 179648500 c.2788G>T p.A930S missense 0.00000828●●●●●●
12551. 179650790 c.2155G>A p.E719K missense 0.00000828●●●●●●
12552. 179650792 c.2153G>A p.R718K missense 0.00000828●●●●●●
12553. 179659698 c.1196C>G p.S399W missense 0.00000828●●●●●●
12554. 179397751 c.103591_103593delAAG p.Lys34531del inframe 0.00000828●●●●●●
12555. 179399814 c.101528_101530delAGA p.Lys33843del inframe 0.00000828●●●●●●
12556. 179410244 c.95593_95595delGAT p.Asp31865del inframe 0.00000828●●●●●●
12557. 179414850 c.91715dupA p.Asn30572LysfsTer16 frameshift 0.00000828●●●●●●
12558. 179419347 c.88727delC p.Thr29576LysfsTer36 frameshift 0.00000828●●●●●●
12559. 179422155 c.87834_87837delCAGA p.Asp29278GlufsTer122 frameshift 0.00000828●●●●●●
12560. 179428848 c.82011dupA p.Asp27338ArgfsTer6 frameshift 0.00000828●●●●●●
12561. 179431050 c.79809_79811delTGT p.Val26604del inframe 0.00000828●●●●●●
12562. 179431248 c.79611delT p.Thr26538LeufsTer6 frameshift 0.00000828●●●●●●
12563. 179431248 c.79611_79612insGAAG p.Thr26538GlufsTer13 frameshift 0.00000828●●●●●●
12564. 179457645 c.59201_59202delCT p.Pro19734ArgfsTer5 frameshift 0.00000828●●●●●●
12565. 179552866 c.32283_32285delGGA p.Glu10763del inframe 0.00000828●●●●●●
12566. 179552880 c.32269_32271delGAA p.Glu10757del inframe 0.00000828●●●●●●
12567. 179552886 c.32263_32264dupGA p.Glu10756LysfsTer17 frameshift 0.00000828●●●●●●
12568. 179567226 c.30388_30390delCGC p.Arg10130del inframe 0.00000828●●●●●●
12569. 179586681 c.22709_22711delCTC p.Pro7570del inframe 0.00000828●●●●●●
12570. 179595759 c.17633_17634insT p.Ile5879AsnfsTer12 frameshift 0.00000828●●●●●●
12571. 179639656 c.6782_6783delTT p.Ile2261SerfsTer2 frameshift 0.00000828●●●●●●
12572. 179642630 c.4281delG p.Met1427IlefsTer35 frameshift 0.00000828●●●●●●
12573. 179650794 c.2151delC p.Arg718GlufsTer29 frameshift 0.00000828●●●●●●
12574. 179419486 c.88595-7C>T splice site 0.00000828●●●●●●
12575. 179419487 c.88595-8A>G splice site 0.00000828●●●●●●
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12578. 179566889 c.30511+6G>T splice site 0.00000828●●●●●●
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12582. 179623894 c.10120A>G p.K3374E missense 0.00000827●●●●●●
12583. 179628994 c.10024G>A p.V3342I missense 0.00000827●●●●●●
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12587. 179632858 c.9188A>G p.H3063R missense 0.00000827●●●●●●
12588. 179634448 c.8860G>T p.V2954F missense 0.00000827●●●●●●
12589. 179638434 c.7349C>G p.P2450R missense 0.00000827●●●●●●
12590. 179638601 c.7294C>T p.L2432F missense 0.00000827●●●●●●
12591. 179638606 c.7289C>T p.P2430L missense 0.00000827●●●●●●
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12594. 179638813 c.7082G>A p.G2361E missense 0.00000827●●●●●●
12595. 179638821 c.7074C>G p.I2358M missense 0.00000827●●●●●●
12596. 179639143 c.6848C>A p.S2283X nonsense 0.00000827●●●●●●
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12599. 179641997 c.4693G>A p.V1565I missense 0.00000827●●●●●●
12600. 179642613 c.4298C>T p.S1433F missense 0.00000827●●●●●●
12601. 179647150 c.3169G>A p.V1057I missense 0.00000827●●●●●●
12602. 179647539 c.3094G>A p.V1032M missense 0.00000827●●●●●●
12603. 179647724 c.2909C>T p.P970L missense 0.00000827●●●●●●
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12606. 179649035 c.2537T>C p.L846S missense 0.00000827●●●●●●
12607. 179654199 c.1964C>T p.A655V missense 0.00000827●●●●●●
12608. 179654199 c.1964C>A p.A655D missense 0.00000827●●●●●●
12609. 179654812 c.1831C>T p.P611S missense 0.00000827●●●●●●
12610. 179659708 c.1186G>A p.A396T missense 0.00000827●●●●●●
12611. 179665313 c.392C>T p.P131L missense 0.00000827●●●●●●
12612. 179659980 c.915-1G>A essential splice site 0.00000827●●●●●●
12613. 179641601 c.4990C>T p.R1664W missense 0.00000826●●●●●●
12614. 179641990 c.4700T>C p.I1567T missense 0.00000826●●●●●●
12615. 179645886 c.3485A>G p.H1162R missense 0.00000826●●●●●●
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12617. 179640250 c.6341A>G p.N2114S missense 0.00000826●●●●●●
12618. 179643733 c.4076A>C p.E1359A missense 0.00000826●●●●●●
12619. 179644720 c.3729+7A>G splice site 0.00000826●●●●●●
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12621. 179645926 c.3445G>A p.D1149N missense 0.00000826●●●●●●
12622. 179654179 c.1984G>A p.A662T missense 0.00000826●●●●●●
12623. 179664595 c.626C>T p.S209L missense 0.00000826●●●●●●
12624. 179664608 c.613A>G p.K205E missense 0.00000826●●●●●●
12625. 179631309 c.9502T>G p.F3168V missense 0.00000826●●●●●●
12626. 179632842 c.9204G>T p.K3068N missense 0.00000826●●●●●●
12627. 179633582 c.8981A>C p.Y2994S missense 0.00000826●●●●●●
12628. 179633585 c.8978A>G p.N2993S missense 0.00000826●●●●●●
12629. 179633595 c.8968G>A p.V2990M missense 0.00000826●●●●●●
12630. 179633606 c.8957T>C p.I2986T missense 0.00000826●●●●●●
12631. 179633610 c.8953A>T p.T2985S missense 0.00000826●●●●●●
12632. 179634634 c.8674G>A p.E2892K missense 0.00000826●●●●●●
12633. 179634636 c.8672T>C p.I2891T missense 0.00000826●●●●●●
12634. 179634648 c.8660C>A p.T2887N missense 0.00000826●●●●●●
12635. 179638204 c.7579A>G p.N2527D missense 0.00000826●●●●●●
12636. 179638418 c.7365T>G p.N2455K missense 0.00000826●●●●●●
12637. 179638800 c.7095A>T p.Q2365H missense 0.00000826●●●●●●
12638. 179639704 c.6734G>A p.S2245N missense 0.00000826●●●●●●
12639. 179639923 c.6515A>T p.Q2172L missense 0.00000826●●●●●●
12640. 179640161 c.6430G>A p.E2144K missense 0.00000826●●●●●●
12641. 179640213 c.6378G>A p.W2126X nonsense 0.00000826●●●●●●
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12643. 179640227 c.6364G>C p.D2122H missense 0.00000826●●●●●●
12644. 179640232 c.6359G>C p.R2120P missense 0.00000826●●●●●●
12645. 179640266 c.6325T>C p.C2109R missense 0.00000826●●●●●●
12646. 179640277 c.6314C>G p.P2105R missense 0.00000826●●●●●●
12647. 179640299 c.6292C>G p.R2098G missense 0.00000826●●●●●●
12648. 179640299 c.6292C>T p.R2098W missense 0.00000826●●●●●●
12649. 179641184 c.5407G>A p.E1803K missense 0.00000826●●●●●●
12650. 179641187 c.5404G>A p.E1802K missense 0.00000826●●●●●●
12651. 179641210 c.5381T>C p.V1794A missense 0.00000826●●●●●●
12652. 179641226 c.5365T>C p.S1789P missense 0.00000826●●●●●●
12653. 179641228 c.5363C>T p.T1788I missense 0.00000826●●●●●●
12654. 179641237 c.5354C>T p.T1785I missense 0.00000826●●●●●●
12655. 179641237 c.5354C>G p.T1785R missense 0.00000826●●●●●●
12656. 179641240 c.5351G>A p.G1784E missense 0.00000826●●●●●●
12657. 179641274 c.5317G>T p.G1773C missense 0.00000826●●●●●●
12658. 179641610 c.4981A>G p.I1661V missense 0.00000826●●●●●●
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12660. 179641624 c.4967C>T p.P1656L missense 0.00000826●●●●●●
12661. 179642583 c.4328T>A p.L1443Q missense 0.00000826●●●●●●
12662. 179642600 c.4311G>A p.M1437I missense 0.00000826●●●●●●
12663. 179642602 c.4309A>C p.M1437L missense 0.00000826●●●●●●
12664. 179643662 c.4147C>A p.P1383T missense 0.00000826●●●●●●
12665. 179643680 c.4129G>A p.G1377R missense 0.00000826●●●●●●
12666. 179643695 c.4114A>C p.N1372H missense 0.00000826●●●●●●
12667. 179643706 c.4103A>C p.N1368T missense 0.00000826●●●●●●
12668. 179643706 c.4103A>G p.N1368S missense 0.00000826●●●●●●
12669. 179643749 c.4060G>A p.V1354I missense 0.00000826●●●●●●
12670. 179643761 c.4048C>T p.R1350C missense 0.00000826●●●●●●
12671. 179644728 c.3728A>G p.Q1243R missense 0.00000826●●●●●●
12672. 179644894 c.3562C>T p.L1188F missense 0.00000826●●●●●●
12673. 179645858 c.3513G>T p.L1171F missense 0.00000826●●●●●●
12674. 179645862 c.3509C>T p.S1170F missense 0.00000826●●●●●●
12675. 179645877 c.3494C>A p.T1165N missense 0.00000826●●●●●●
12676. 179645883 c.3488G>A p.G1163E missense 0.00000826●●●●●●
12677. 179645896 c.3475C>T p.R1159C missense 0.00000826●●●●●●
12678. 179645902 c.3469G>C p.V1157L missense 0.00000826●●●●●●
12679. 179645908 c.3463A>G p.T1155A missense 0.00000826●●●●●●
12680. 179645925 c.3446A>G p.D1149G missense 0.00000826●●●●●●
12681. 179647128 c.3191T>C p.M1064T missense 0.00000826●●●●●●
12682. 179647129 c.3190A>T p.M1064L missense 0.00000826●●●●●●
12683. 179647542 c.3091G>A p.A1031T missense 0.00000826●●●●●●
12684. 179647547 c.3086A>C p.Y1029S missense 0.00000826●●●●●●
12685. 179647550 c.3083G>A p.C1028Y missense 0.00000826●●●●●●
12686. 179647713 c.2920G>A p.V974M missense 0.00000826●●●●●●
12687. 179648452 c.2836G>A p.V946I missense 0.00000826●●●●●●
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12701. 179644726 c.3729+1G>A essential splice site 0.00000826●●●●●●
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12930. 179658246 c.1421C>T p.T474I missense 0.00000824●●●●●●
12931. 179664238 c.890G>A p.R297Q missense 0.00000824●●●●●●
12932. 179664256 c.872C>G p.S291C missense 0.00000824●●●●●●
12933. 179665145 c.560C>T p.S187L missense 0.00000824●●●●●●
12934. 179632514 c.9443G>T p.R3148L missense 0.00000824●●●●●●
12935. 179659231 c.1293_1295delTGC p.A431_A432delinsA inframe 0.00000824●●●●●●
12936. 179634787 c.8641A>C p.T2881P missense 0.00000824●●●●●●
12937. 179628904 c.10114G>C p.D3372H missense 0.00000824●●●●●●
12938. 179628907 c.10111A>T p.T3371S missense 0.00000824●●●●●●
12939. 179628916 c.10102G>A p.V3368I missense 0.00000824●●●●●●
12940. 179628931 c.10087C>T p.R3363C missense 0.00000824●●●●●●
12941. 179629278 c.9964A>G p.T3322A missense 0.00000824●●●●●●
12942. 179629295 c.9947A>G p.D3316G missense 0.00000824●●●●●●
12943. 179629302 c.9940A>C p.K3314Q missense 0.00000824●●●●●●
12944. 179629329 c.9913G>A p.D3305N missense 0.00000824●●●●●●
12945. 179629374 c.9868G>C p.D3290H missense 0.00000824●●●●●●
12946. 179629385 c.9857A>T p.K3286I missense 0.00000824●●●●●●
12947. 179629393 c.9849C>G p.F3283L missense 0.00000824●●●●●●
12948. 179629403 c.9839C>T p.S3280F missense 0.00000824●●●●●●
12949. 179631134 c.9677G>A p.R3226K missense 0.00000824●●●●●●
12950. 179631164 c.9647G>C p.G3216A missense 0.00000824●●●●●●
12951. 179631171 c.9640G>A p.D3214N missense 0.00000824●●●●●●
12952. 179631179 c.9632G>C p.R3211T missense 0.00000824●●●●●●
12953. 179631190 c.9621C>G p.I3207M missense 0.00000824●●●●●●
12954. 179631202 c.9609C>G p.H3203Q missense 0.00000824●●●●●●
12955. 179631234 c.9577C>T p.R3193X nonsense 0.00000824●●●●●●
12956. 179631246 c.9565C>G p.Q3189E missense 0.00000824●●●●●●
12957. 179631248 c.9563T>A p.F3188Y missense 0.00000824●●●●●●
12958. 179632545 c.9412G>T p.A3138S missense 0.00000824●●●●●●
12959. 179632554 c.9403G>A p.V3135M missense 0.00000824●●●●●●
12960. 179632556 c.9401A>G p.N3134S missense 0.00000824●●●●●●
12961. 179632747 c.9299C>T p.T3100I missense 0.00000824●●●●●●
12962. 179632750 c.9296T>A p.I3099N missense 0.00000824●●●●●●
12963. 179632756 c.9290T>G p.L3097R missense 0.00000824●●●●●●
12964. 179632759 c.9287A>T p.E3096V missense 0.00000824●●●●●●
12965. 179632777 c.9269G>C p.W3090S missense 0.00000824●●●●●●
12966. 179634825 c.8603T>C p.V2868A missense 0.00000824●●●●●●
12967. 179634906 c.8522G>A p.R2841K missense 0.00000824●●●●●●
12968. 179634922 c.8506C>A p.P2836T missense 0.00000824●●●●●●
12969. 179634955 c.8473G>A p.V2825I missense 0.00000824●●●●●●
12970. 179635001 c.8427T>A p.N2809K missense 0.00000824●●●●●●
12971. 179635193 c.8326G>T p.V2776F missense 0.00000824●●●●●●
12972. 179635196 c.8323T>C p.S2775P missense 0.00000824●●●●●●
12973. 179635199 c.8320G>C p.E2774Q missense 0.00000824●●●●●●
12974. 179635206 c.8313C>G p.I2771M missense 0.00000824●●●●●●
12975. 179635207 c.8312T>C p.I2771T missense 0.00000824●●●●●●
12976. 179635222 c.8297T>C p.I2766T missense 0.00000824●●●●●●
12977. 179635246 c.8273A>G p.K2758R missense 0.00000824●●●●●●
12978. 179635256 c.8263A>C p.I2755L missense 0.00000824●●●●●●
12979. 179635285 c.8234T>A p.V2745D missense 0.00000824●●●●●●
12980. 179635319 c.8200A>G p.N2734D missense 0.00000824●●●●●●
12981. 179635319 c.8200A>C p.N2734H missense 0.00000824●●●●●●
12982. 179635334 c.8185G>A p.E2729K missense 0.00000824●●●●●●
12983. 179635352 c.8167G>A p.D2723N missense 0.00000824●●●●●●
12984. 179635354 c.8165A>G p.Q2722R missense 0.00000824●●●●●●
12985. 179635360 c.8159A>G p.E2720G missense 0.00000824●●●●●●
12986. 179636150 c.7904A>G p.Q2635R missense 0.00000824●●●●●●
12987. 179638658 c.7237C>T p.L2413F missense 0.00000824●●●●●●
12988. 179638669 c.7226C>G p.S2409C missense 0.00000824●●●●●●
12989. 179638675 c.7220A>G p.K2407R missense 0.00000824●●●●●●
12990. 179638677 c.7218C>G p.D2406E missense 0.00000824●●●●●●
12991. 179638681 c.7214T>C p.I2405T missense 0.00000824●●●●●●
12992. 179638687 c.7208T>C p.I2403T missense 0.00000824●●●●●●
12993. 179638690 c.7205A>T p.H2402L missense 0.00000824●●●●●●
12994. 179638694 c.7201G>A p.V2401I missense 0.00000824●●●●●●
12995. 179638697 c.7198A>G p.R2400G missense 0.00000824●●●●●●
12996. 179638699 c.7196A>G p.D2399G missense 0.00000824●●●●●●
12997. 179638700 c.7195G>A p.D2399N missense 0.00000824●●●●●●
12998. 179638702 c.7193G>T p.S2398I missense 0.00000824●●●●●●
12999. 179638715 c.7180G>C p.E2394Q missense 0.00000824●●●●●●
13000. 179638726 c.7169A>G p.K2390R missense 0.00000824●●●●●●
13001. 179638729 c.7166T>A p.M2389K missense 0.00000824●●●●●●
13002. 179638742 c.7153G>A p.E2385K missense 0.00000824●●●●●●
13003. 179638994 c.6997C>G p.Q2333E missense 0.00000824●●●●●●
13004. 179638997 c.6994G>T p.D2332Y missense 0.00000824●●●●●●
13005. 179639050 c.6941T>C p.I2314T missense 0.00000824●●●●●●
13006. 179639084 c.6907G>C p.D2303H missense 0.00000824●●●●●●
13007. 179639089 c.6902A>T p.H2301L missense 0.00000824●●●●●●
13008. 179639092 c.6899A>G p.Y2300C missense 0.00000824●●●●●●
13009. 179639092 c.6899A>T p.Y2300F missense 0.00000824●●●●●●
13010. 179640463 c.6128A>G p.K2043R missense 0.00000824●●●●●●
13011. 179640479 c.6112C>A p.L2038I missense 0.00000824●●●●●●
13012. 179640482 c.6109G>C p.E2037Q missense 0.00000824●●●●●●
13013. 179640493 c.6098A>T p.K2033M missense 0.00000824●●●●●●
13014. 179640504 c.6087A>C p.E2029D missense 0.00000824●●●●●●
13015. 179640507 c.6084G>T p.E2028D missense 0.00000824●●●●●●
13016. 179640516 c.6075A>C p.E2025D missense 0.00000824●●●●●●
13017. 179640536 c.6055A>C p.K2019Q missense 0.00000824●●●●●●
13018. 179640548 c.6043G>A p.A2015T missense 0.00000824●●●●●●
13019. 179640554 c.6037A>G p.I2013V missense 0.00000824●●●●●●
13020. 179640562 c.6029A>G p.Y2010C missense 0.00000824●●●●●●
13021. 179640616 c.5975A>G p.E1992G missense 0.00000824●●●●●●
13022. 179640620 c.5971C>T p.P1991S missense 0.00000824●●●●●●
13023. 179640631 c.5960A>G p.H1987R missense 0.00000824●●●●●●
13024. 179640675 c.5916A>T p.E1972D missense 0.00000824●●●●●●
13025. 179640685 c.5906A>T p.D1969V missense 0.00000824●●●●●●
13026. 179640707 c.5884C>A p.Q1962K missense 0.00000824●●●●●●
13027. 179640754 c.5837G>A p.R1946K missense 0.00000824●●●●●●
13028. 179640775 c.5816T>A p.L1939H missense 0.00000824●●●●●●
13029. 179640781 c.5810C>G p.S1937C missense 0.00000824●●●●●●
13030. 179640794 c.5797G>A p.E1933K missense 0.00000824●●●●●●
13031. 179640799 c.5792A>T p.Q1931L missense 0.00000824●●●●●●
13032. 179640806 c.5785A>T p.I1929F missense 0.00000824●●●●●●
13033. 179640833 c.5758G>A p.V1920M missense 0.00000824●●●●●●
13034. 179640863 c.5728G>A p.V1910M missense 0.00000824●●●●●●
13035. 179640922 c.5669G>C p.R1890P missense 0.00000824●●●●●●
13036. 179640958 c.5633G>A p.G1878E missense 0.00000824●●●●●●
13037. 179640964 c.5627T>A p.L1876H missense 0.00000824●●●●●●
13038. 179640969 c.5622G>A p.W1874X nonsense 0.00000824●●●●●●
13039. 179640973 c.5618A>G p.N1873S missense 0.00000824●●●●●●
13040. 179640988 c.5603C>G p.P1868R missense 0.00000824●●●●●●
13041. 179641002 c.5589G>T p.R1863S missense 0.00000824●●●●●●
13042. 179641027 c.5564G>A p.G1855E missense 0.00000824●●●●●●
13043. 179641029 c.5562A>T p.E1854D missense 0.00000824●●●●●●
13044. 179641034 c.5557C>G p.L1853V missense 0.00000824●●●●●●
13045. 179641034 c.5557C>T p.L1853F missense 0.00000824●●●●●●
13046. 179641046 c.5545C>G p.P1849A missense 0.00000824●●●●●●
13047. 179641054 c.5537A>G p.Y1846C missense 0.00000824●●●●●●
13048. 179641061 c.5530G>T p.V1844F missense 0.00000824●●●●●●
13049. 179641082 c.5509G>A p.E1837K missense 0.00000824●●●●●●
13050. 179641088 c.5503C>A p.Q1835K missense 0.00000824●●●●●●
13051. 179641100 c.5491G>A p.V1831I missense 0.00000824●●●●●●
13052. 179641895 c.4795C>T p.H1599Y missense 0.00000824●●●●●●
13053. 179641898 c.4792C>T p.P1598S missense 0.00000824●●●●●●
13054. 179641904 c.4786A>G p.I1596V missense 0.00000824●●●●●●
13055. 179646981 c.3338T>C p.V1113A missense 0.00000824●●●●●●
13056. 179646984 c.3335A>T p.H1112L missense 0.00000824●●●●●●
13057. 179647017 c.3302T>C p.F1101S missense 0.00000824●●●●●●
13058. 179647047 c.3272A>G p.Q1091R missense 0.00000824●●●●●●
13059. 179647640 c.2993C>G p.A998G missense 0.00000824●●●●●●
13060. 179647644 c.2989A>G p.I997V missense 0.00000824●●●●●●
13061. 179647676 c.2957C>T p.S986F missense 0.00000824●●●●●●
13062. 179648820 c.2752G>T p.V918L missense 0.00000824●●●●●●
13063. 179648881 c.2691G>C p.E897D missense 0.00000824●●●●●●
13064. 179648933 c.2639A>G p.Q880R missense 0.00000824●●●●●●
13065. 179648950 c.2622G>T p.E874D missense 0.00000824●●●●●●
13066. 179648955 c.2617G>A p.A873T missense 0.00000824●●●●●●
13067. 179648978 c.2594A>C p.K865T missense 0.00000824●●●●●●
13068. 179648985 c.2587A>C p.T863P missense 0.00000824●●●●●●
13069. 179650397 c.2443C>T p.H815Y missense 0.00000824●●●●●●
13070. 179650400 c.2440C>G p.P814A missense 0.00000824●●●●●●
13071. 179650453 c.2387A>C p.D796A missense 0.00000824●●●●●●
13072. 179650621 c.2324C>T p.T775I missense 0.00000824●●●●●●
13073. 179650650 c.2295G>T p.K765N missense 0.00000824●●●●●●
13074. 179654710 c.1933G>T p.E645X nonsense 0.00000824●●●●●●
13075. 179654725 c.1918G>A p.V640M missense 0.00000824●●●●●●
13076. 179655460 c.1775A>T p.D592V missense 0.00000824●●●●●●
13077. 179655464 c.1771C>G p.Q591E missense 0.00000824●●●●●●
13078. 179655469 c.1766C>T p.T589I missense 0.00000824●●●●●●
13079. 179655470 c.1765A>G p.T589A missense 0.00000824●●●●●●
13080. 179655470 c.1765A>T p.T589S missense 0.00000824●●●●●●
13081. 179655484 c.1751A>G p.Q584R missense 0.00000824●●●●●●
13082. 179655487 c.1748C>T p.A583V missense 0.00000824●●●●●●
13083. 179655536 c.1699G>C p.V567L missense 0.00000824●●●●●●
13084. 179658161 c.1506G>T p.K502N missense 0.00000824●●●●●●
13085. 179658166 c.1501A>G p.T501A missense 0.00000824●●●●●●
13086. 179658169 c.1498A>G p.T500A missense 0.00000824●●●●●●
13087. 179658223 c.1444G>T p.A482S missense 0.00000824●●●●●●
13088. 179658253 c.1414G>A p.E472K missense 0.00000824●●●●●●
13089. 179659146 c.1378A>G p.I460V missense 0.00000824●●●●●●
13090. 179659154 c.1370C>T p.A457V missense 0.00000824●●●●●●
13091. 179659160 c.1364C>G p.T455R missense 0.00000824●●●●●●
13092. 179659188 c.1336G>A p.V446I missense 0.00000824●●●●●●
13093. 179659190 c.1334C>T p.A445V missense 0.00000824●●●●●●
13094. 179659190 c.1334C>A p.A445D missense 0.00000824●●●●●●
13095. 179659195 c.1329C>G p.I443M missense 0.00000824●●●●●●
13096. 179659196 c.1328T>G p.I443S missense 0.00000824●●●●●●
13097. 179659199 c.1325T>C p.V442A missense 0.00000824●●●●●●
13098. 179659206 c.1318G>A p.E440K missense 0.00000824●●●●●●
13099. 179659217 c.1307C>T p.A436V missense 0.00000824●●●●●●
13100. 179659218 c.1306G>A p.A436T missense 0.00000824●●●●●●
13101. 179659220 c.1304T>C p.M435T missense 0.00000824●●●●●●
13102. 179659257 c.1267A>C p.S423R missense 0.00000824●●●●●●
13103. 179659266 c.1258G>A p.A420T missense 0.00000824●●●●●●
13104. 179659268 c.1256A>C p.D419A missense 0.00000824●●●●●●
13105. 179659798 c.1096A>G p.T366A missense 0.00000824●●●●●●
13106. 179659831 c.1063T>A p.S355T missense 0.00000824●●●●●●
13107. 179659845 c.1049A>G p.Y350C missense 0.00000824●●●●●●
13108. 179659888 c.1006G>C p.A336P missense 0.00000824●●●●●●
13109. 179659897 c.997T>G p.S333A missense 0.00000824●●●●●●
13110. 179659905 c.989C>T p.T330I missense 0.00000824●●●●●●
13111. 179659911 c.983G>A p.R328H missense 0.00000824●●●●●●
13112. 179659938 c.956G>C p.R319T missense 0.00000824●●●●●●
13113. 179664232 c.896C>T p.P299L missense 0.00000824●●●●●●
13114. 179664243 c.885C>A p.H295Q missense 0.00000824●●●●●●
13115. 179664251 c.877G>A p.V293I missense 0.00000824●●●●●●
13116. 179664253 c.875C>T p.P292L missense 0.00000824●●●●●●
13117. 179664259 c.869C>T p.P290L missense 0.00000824●●●●●●
13118. 179664259 c.869C>A p.P290H missense 0.00000824●●●●●●
13119. 179664280 c.848C>T p.P283L missense 0.00000824●●●●●●
13120. 179664281 c.847C>G p.P283A missense 0.00000824●●●●●●
13121. 179664310 c.818C>T p.A273V missense 0.00000824●●●●●●
13122. 179664316 c.812T>C p.I271T missense 0.00000824●●●●●●
13123. 179664322 c.806C>T p.P269L missense 0.00000824●●●●●●
13124. 179664325 c.803C>T p.P268L missense 0.00000824●●●●●●
13125. 179664340 c.788C>A p.S263X nonsense 0.00000824●●●●●●
13126. 179664352 c.776C>T p.P259L missense 0.00000824●●●●●●
13127. 179664377 c.751C>A p.H251N missense 0.00000824●●●●●●
13128. 179664386 c.742C>A p.Q248K missense 0.00000824●●●●●●
13129. 179664401 c.727G>A p.G243S missense 0.00000824●●●●●●
13130. 179664407 c.721A>G p.I241V missense 0.00000824●●●●●●
13131. 179664419 c.709G>A p.V237I missense 0.00000824●●●●●●
13132. 179664422 c.706A>G p.T236A missense 0.00000824●●●●●●
13133. 179664442 c.686T>C p.F229S missense 0.00000824●●●●●●
13134. 179664454 c.674T>C p.I225T missense 0.00000824●●●●●●
13135. 179665221 c.484C>G p.L162V missense 0.00000824●●●●●●
13136. 179666877 c.283C>T p.L95F missense 0.00000824●●●●●●
13137. 179666886 c.274A>T p.T92S missense 0.00000824●●●●●●
13138. 179666901 c.259G>A p.G87R missense 0.00000824●●●●●●
13139. 179666903 c.257C>A p.S86Y missense 0.00000824●●●●●●
13140. 179666906 c.254G>A p.G85E missense 0.00000824●●●●●●
13141. 179666925 c.235T>A p.S79T missense 0.00000824●●●●●●
13142. 179666934 c.226G>A p.G76R missense 0.00000824●●●●●●
13143. 179666939 c.221A>G p.N74S missense 0.00000824●●●●●●
13144. 179666972 c.188C>T p.A63V missense 0.00000824●●●●●●
13145. 179666981 c.179A>T p.D60V missense 0.00000824●●●●●●
13146. 179666982 c.178G>A p.D60N missense 0.00000824●●●●●●
13147. 179632774 c.9272_9274delTGA p.Met3091del inframe 0.00000824●●●●●●
13148. 179642430 c.4480+1G>A essential splice site 0.00000824●●●●●●
13149. 179648873 c.2699dupA p.Glu901GlyfsTer13 frameshift 0.00000824●●●●●●
13150. 179650594 c.2351delG p.Gly784GlufsTer14 frameshift 0.00000824●●●●●●
13151. 179650628 c.2317_2319delTCT p.Ser773del inframe 0.00000824●●●●●●
13152. 179654704 c.1938+1G>T essential splice site 0.00000824●●●●●●
13153. 179655464 c.1771_1773delCAA p.Gln591del inframe 0.00000824●●●●●●
13154. 179655503 c.1732dupG p.Glu578GlyfsTer22 frameshift 0.00000824●●●●●●
13155. 179655518 c.1717_1718delAA p.Lys573ValfsTer26 frameshift 0.00000824●●●●●●
13156. 179658173 c.1494_1496delAAT p.Ile499del inframe 0.00000824●●●●●●
13157. 179658212 c.1455dupA p.Ala486SerfsTer26 frameshift 0.00000824●●●●●●
13158. 179666886 c.274dupA p.Thr92AsnfsTer3 frameshift 0.00000824●●●●●●
13159. 179632737 c.9305+4A>C splice site 0.00000824●●●●●●
13160. 179650467 c.2373C>A splice site 0.00000824●●●●●●
13161. 179650472 c.2371-3C>T splice site 0.00000824●●●●●●
13162. 179650475 c.2371-6A>G splice site 0.00000824●●●●●●
13163. 179650568 c.2370+7C>G splice site 0.00000824●●●●●●
13164. 179655432 c.1800+3G>A splice site 0.00000824●●●●●●
13165. 179664461 c.670-3C>T splice site 0.00000824●●●●●●

* This highlights the relative frequency of the variant in the ExAC populations - Non-Finnish European, African, East Asian, South Asian, American and Finnish. Higher frequencies are denoted by darker shades of green, variants absent in a population are coloured light gray.

✝ Genomic coordinates refer to the GRCh37 release of the human genome.