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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