TTN non-truncating variants in ExAC

TTN gene summary
TTN variants in

The table below lists the TTN non-truncating variants found in the ExAC population database with a mean allelic frequency (MAF) less than 0.0001, classified for this study as a rare variant. 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. 179577222 c.27427G>T p.V9143F missense 0.00009990●●●●●●
2. 179441868 c.69194T>C p.L23065S missense 0.00009989●●●●●●
3. 179458146 c.58789T>G p.L19597V missense 0.00009988●●●●●●
4. 179434945 c.75914C>T p.P25305L missense 0.00009982●●●●●●
5. 179600474 c.14699C>T p.A4900V missense 0.00009980●●●●●●
6. 179417867 c.89760A>C p.E29920D missense 0.00009979●●●●●●
7. 179417680 c.89947G>A p.V29983M missense 0.00009976●●●●●●
8. 179638579 c.7316G>A p.R2439H missense 0.00009975●●●●●●
9. 179441846 c.69216T>G p.I23072M missense 0.00009974●●●●●●
10. 179637980 c.7711G>A p.E2571K missense 0.00009973●●●●●●
11. 179462439 c.57370G>A p.V19124I missense 0.00009970●●●●●●
12. 179475791 c.51065C>T p.A17022V missense 0.00009964●●●●●●
13. 179594220 c.18663A>C p.E6221D missense 0.00009961●●●●●●
14. 179542438 c.34201G>A p.E11401K missense 0.00009961●●●●●●
15. 179459199 c.58022G>A p.S19341N missense 0.00009960●●●●●●
16. 179643821 c.3988C>T p.R1330C missense 0.00009960●●●●●●
17. 179414944 c.91621G>A p.G30541R missense 0.00009959●●●●●●
18. 179453918 c.62534C>T p.T20845M missense 0.00009959●●●●●●
19. 179480116 c.48556C>T p.R16186C missense 0.00009958●●●●●●
20. 179410568 c.95395A>G p.I31799V missense 0.00009954●●●●●●
21. 179553855 c.32020C>G p.L10674V missense 0.00009953●●●●●●
22. 179604242 c.13718C>T p.S4573L missense 0.00009951●●●●●●
23. 179418740 c.89098_89100delGAA p.Glu29700del inframe 0.00009948●●●●●●
24. 179413669 c.92684G>A p.R30895Q missense 0.00009944●●●●●●
25. 179397925 c.103417G>A p.V34473I missense 0.00009943●●●●●●
26. 179403836 c.98826C>G p.D32942E missense 0.00009942●●●●●●
27. 179504804 c.40757C>T p.A13586V missense 0.00009942●●●●●●
28. 179545032 c.33367G>A p.A11123T missense 0.00009941●●●●●●
29. 179398822 c.102520G>A p.V34174I missense 0.00009938●●●●●●
30. 179593070 c.19481T>G p.L6494R missense 0.00009922●●●●●●
31. 179641981 c.4709G>C p.G1570A missense 0.00009903●●●●●●
32. 179641543 c.5048G>A p.R1683Q missense 0.00009901●●●●●●
33. 179650727 c.2218C>A p.R740S missense 0.00009900●●●●●●
34. 179639020 c.6971C>T p.T2324M missense 0.00009890●●●●●●
35. 179648841 c.2731G>A p.V911I missense 0.00009888●●●●●●
36. 179634919 c.8509A>T p.S2837C missense 0.00009888●●●●●●
37. 179648838 c.2734C>T p.R912C missense 0.00009888●●●●●●
38. 179655493 c.1742C>T p.P581L missense 0.00009887●●●●●●
39. 179406131 c.97673G>A p.R32558Q missense 0.00009828●●●●●●
40. 179393344 c.107134A>C p.N35712H missense 0.00009807●●●●●●
41. 179500307 c.41744C>T p.A13915V missense 0.00009722●●●●●●
42. 179460362 c.57719G>A p.R19240Q missense 0.00009676●●●●●●
43. 179407817 c.96883G>A p.V32295M missense 0.00009615●●●●●●
44. 179469726 c.54178G>A p.V18060I missense 0.00009576●●●●●●
45. 179441006 c.69853G>A p.E23285K missense 0.00009565●●●●●●
46. 179393941 c.106537A>G p.K35513E missense 0.00009522●●●●●●
47. 179401787 c.100049C>T p.T33350I missense 0.00009502●●●●●●
48. 179528602 c.36392G>A p.R12131H missense 0.00009479●●●●●●
49. 179456902 c.59729C>T p.T19910I missense 0.00009412●●●●●●
50. 179547988 c.32837A>T p.E10946V missense 0.00009402●●●●●●
51. 179516471 c.39385G>A p.V13129I missense 0.00009392●●●●●●
52. 179421853 c.88028G>A p.R29343H missense 0.00009296●●●●●●
53. 179469622 c.54194G>A p.R18065H missense 0.00009282●●●●●●
54. 179600345 c.14828C>A p.A4943E missense 0.00009262●●●●●●
55. 179479226 c.49015C>T p.R16339W missense 0.00009239●●●●●●
56. 179466463 c.55354T>C p.S18452P missense 0.00009239●●●●●●
57. 179459149 c.58072C>T p.R19358C missense 0.00009218●●●●●●
58. 179447268 c.65915G>A p.R21972H missense 0.00009210●●●●●●
59. 179585136 c.23353T>C p.C7785R missense 0.00009198●●●●●●
60. 179449648 c.64720G>A p.A21574T missense 0.00009198●●●●●●
61. 179407135 c.97348G>A p.V32450I missense 0.00009195●●●●●●
62. 179447261 c.65922G>A p.M21974I missense 0.00009184●●●●●●
63. 179469867 c.54037G>T p.A18013S missense 0.00009173●●●●●●
64. 179599466 c.15185G>A p.S5062N missense 0.00009168●●●●●●
65. 179408930 c.96026T>G p.I32009R missense 0.00009161●●●●●●
66. 179576848 c.27709T>G p.S9237A missense 0.00009158●●●●●●
67. 179485612 c.45725G>A p.R15242K missense 0.00009157●●●●●●
68. 179544077 c.33731C>T p.P11244L missense 0.00009153●●●●●●
69. 179417703 c.89924C>T p.A29975V missense 0.00009150●●●●●●
70. 179501436 c.41018C>T p.P13673L missense 0.00009150●●●●●●
71. 179597239 c.16549T>G p.S5517A missense 0.00009147●●●●●●
72. 179463490 c.56947G>A p.A18983T missense 0.00009137●●●●●●
73. 179442879 c.68363T>C p.L22788P missense 0.00009132●●●●●●
74. 179443562 c.68195C>T p.S22732L missense 0.00009131●●●●●●
75. 179542575 c.34064A>G p.E11355G missense 0.00009131●●●●●●
76. 179428105 c.82754C>A p.S27585Y missense 0.00009129●●●●●●
77. 179596987 c.16709C>T p.T5570I missense 0.00009128●●●●●●
78. 179429977 c.80882C>T p.A26961V missense 0.00009127●●●●●●
79. 179605829 c.12131C>T p.S4044F missense 0.00009127●●●●●●
80. 179416834 c.90793C>T p.R30265W missense 0.00009126●●●●●●
81. 179598080 c.15940A>G p.N5314D missense 0.00009125●●●●●●
82. 179404151 c.98641C>T p.P32881S missense 0.00009123●●●●●●
83. 179449552 c.64816G>C p.D21606H missense 0.00009123●●●●●●
84. 179399743 c.101599C>G p.L33867V missense 0.00009122●●●●●●
85. 179437481 c.73378G>A p.V24460M missense 0.00009122●●●●●●
86. 179429821 c.81038G>A p.R27013Q missense 0.00009121●●●●●●
87. 179446747 c.66349G>A p.A22117T missense 0.00009120●●●●●●
88. 179462752 c.57145G>A p.V19049I missense 0.00009119●●●●●●
89. 179441333 c.69638G>A p.R23213H missense 0.00009118●●●●●●
90. 179604698 c.13262A>G p.N4421S missense 0.00009117●●●●●●
91. 179468729 c.54685G>A p.V18229M missense 0.00009115●●●●●●
92. 179595796 c.17596G>T p.G5866C missense 0.00009115●●●●●●
93. 179397619 c.103723C>T p.R34575C missense 0.00009113●●●●●●
94. 179440280 c.70579G>A p.V23527I missense 0.00009111●●●●●●
95. 179397262 c.104080T>G p.S34694A missense 0.00009111●●●●●●
96. 179408698 c.96173G>A p.R32058Q missense 0.00009110●●●●●●
97. 179397730 c.103612A>G p.M34538V missense 0.00009109●●●●●●
98. 179397759 c.103583A>G p.E34528G missense 0.00009109●●●●●●
99. 179567259 c.30355G>C p.E10119Q missense 0.00009108●●●●●●
100. 179514043 c.39989A>G p.K13330R missense 0.00009098●●●●●●
101. 179438273 c.72586C>T p.R24196C missense 0.00009094●●●●●●
102. 179643656 c.4153G>A p.A1385T missense 0.00009090●●●●●●
103. 179640232 c.6359G>A p.R2120Q missense 0.00009084●●●●●●
104. 179647623 c.3010G>A p.E1004K missense 0.00009070●●●●●●
105. 179647666 c.2967C>A p.F989L missense 0.00009067●●●●●●
106. 179650635 c.2310G>T p.Q770H missense 0.00009065●●●●●●
107. 179438057 c.72802C>T p.R24268C missense 0.00009002●●●●●●
108. 179497056 c.43565A>G p.H14522R missense 0.00008979●●●●●●
109. 179539099 c.34650A>C p.E11550D missense 0.00008872●●●●●●
110. 179563607 c.30717A>C p.K10239N missense 0.00008828●●●●●●
111. 179500702 c.41596G>A p.V13866I missense 0.00008817●●●●●●
112. 179597397 c.16391G>C p.G5464A missense 0.00008774●●●●●●
113. 179584554 c.23665G>A p.A7889T missense 0.00008771●●●●●●
114. 179593118 c.19433A>G p.N6478S missense 0.00008759●●●●●●
115. 179473988 c.52049A>G p.K17350R missense 0.00008748●●●●●●
116. 179539053 c.34696G>T p.A11566S missense 0.00008741●●●●●●
117. 179535858 c.35267C>A p.P11756Q missense 0.00008741●●●●●●
118. 179558336 c.31594G>A p.V10532I missense 0.00008741●●●●●●
119. 179467196 c.54933G>A p.M18311I missense 0.00008709●●●●●●
120. 179586815 c.22575T>A p.D7525E missense 0.00008654●●●●●●
121. 179429557 c.81302G>T p.G27101V missense 0.00008617●●●●●●
122. 179534966 c.35365C>A p.P11789T missense 0.00008598●●●●●●
123. 179558706 c.31456A>T p.I10486F missense 0.00008509●●●●●●
124. 179600745 c.14428A>C p.K4810Q missense 0.00008492●●●●●●
125. 179549126 c.32653A>T p.M10885L missense 0.00008490●●●●●●
126. 179587608 c.22018G>A p.V7340I missense 0.00008489●●●●●●
127. 179579976 c.25937G>A p.R8646H missense 0.00008441●●●●●●
128. 179597782 c.16121G>A p.C5374Y missense 0.00008419●●●●●●
129. 179424388 c.86471C>T p.T28824I missense 0.00008418●●●●●●
130. 179452458 c.63578G>A p.R21193H missense 0.00008403●●●●●●
131. 179588283 c.21544C>T p.R7182W missense 0.00008393●●●●●●
132. 179466438 c.55379C>T p.T18460I missense 0.00008391●●●●●●
133. 179439511 c.71348G>A p.R23783H missense 0.00008385●●●●●●
134. 179585279 c.23210A>C p.K7737T missense 0.00008384●●●●●●
135. 179583583 c.24344G>A p.S8115N missense 0.00008374●●●●●●
136. 179401159 c.100315T>C p.W33439R missense 0.00008372●●●●●●
137. 179590188 c.20743G>T p.A6915S missense 0.00008369●●●●●●
138. 179480491 c.48337G>A p.E16113K missense 0.00008366●●●●●●
139. 179595454 c.17806A>G p.I5936V missense 0.00008363●●●●●●
140. 179474019 c.52018C>T p.L17340F missense 0.00008353●●●●●●
141. 179455176 c.61276C>T p.L20426F missense 0.00008349●●●●●●
142. 179486366 c.45185T>C p.I15062T missense 0.00008346●●●●●●
143. 179517256 c.39056C>T p.P13019L missense 0.00008346●●●●●●
144. 179485268 c.45980G>A p.R15327H missense 0.00008344●●●●●●
145. 179434214 c.76645G>A p.G25549S missense 0.00008338●●●●●●
146. 179440902 c.69957C>G p.I23319M missense 0.00008332●●●●●●
147. 179548809 c.32723T>A p.V10908E missense 0.00008324●●●●●●
148. 179439407 c.71452A>G p.I23818V missense 0.00008322●●●●●●
149. 179581891 c.25570G>A p.G8524R missense 0.00008321●●●●●●
150. 179404870 c.98023G>A p.V32675I missense 0.00008318●●●●●●
151. 179498239 c.42847C>T p.R14283C missense 0.00008317●●●●●●
152. 179435332 c.75527G>A p.R25176H missense 0.00008316●●●●●●
153. 179494129 c.44323G>A p.V14775M missense 0.00008316●●●●●●
154. 179457798 c.59048C>G p.P19683R missense 0.00008315●●●●●●
155. 179500008 c.41908C>T p.P13970S missense 0.00008314●●●●●●
156. 179421725 c.88156A>T p.S29386C missense 0.00008314●●●●●●
157. 179643842 c.3967G>T p.A1323S missense 0.00008312●●●●●●
158. 179474691 c.51459T>G p.D17153E missense 0.00008311●●●●●●
159. 179596641 c.16961T>G p.V5654G missense 0.00008311●●●●●●
160. 179482562 c.47516T>C p.I15839T missense 0.00008309●●●●●●
161. 179560625 c.31174G>A p.E10392K missense 0.00008308●●●●●●
162. 179580264 c.25877A>G p.N8626S missense 0.00008302●●●●●●
163. 179430193 c.80666A>G p.Y26889C missense 0.00008302●●●●●●
164. 179577056 c.27593A>G p.Q9198R missense 0.00008301●●●●●●
165. 179428175 c.82684T>C p.Y27562H missense 0.00008298●●●●●●
166. 179472634 c.52880G>A p.R17627H missense 0.00008298●●●●●●
167. 179582828 c.24905C>A p.T8302K missense 0.00008298●●●●●●
168. 179449557 c.64811G>A p.R21604Q missense 0.00008297●●●●●●
169. 179453945 c.62507G>A p.R20836Q missense 0.00008297●●●●●●
170. 179412310 c.94043A>T p.K31348M missense 0.00008297●●●●●●
171. 179416885 c.90742G>A p.V30248I missense 0.00008296●●●●●●
172. 179453984 c.62468G>A p.R20823H missense 0.00008296●●●●●●
173. 179474488 c.51662G>A p.R17221H missense 0.00008296●●●●●●
174. 179451453 c.64175G>A p.R21392H missense 0.00008295●●●●●●
175. 179413547 c.92806G>A p.V30936I missense 0.00008294●●●●●●
176. 179430005 c.80854G>A p.V26952I missense 0.00008294●●●●●●
177. 179440757 c.70102A>G p.I23368V missense 0.00008294●●●●●●
178. 179397342 c.104000T>C p.I34667T missense 0.00008291●●●●●●
179. 179457598 c.59248G>A p.G19750S missense 0.00008290●●●●●●
180. 179577164 c.27485C>T p.T9162M missense 0.00008290●●●●●●
181. 179457228 c.59504T>G p.V19835G missense 0.00008288●●●●●●
182. 179430631 c.80228A>C p.K26743T missense 0.00008287●●●●●●
183. 179412982 c.93371A>T p.D31124V missense 0.00008286●●●●●●
184. 179430442 c.80417A>G p.H26806R missense 0.00008285●●●●●●
185. 179398780 c.102562G>A p.E34188K missense 0.00008285●●●●●●
186. 179404426 c.98366A>G p.K32789R missense 0.00008285●●●●●●
187. 179395605 c.105737C>G p.A35246G missense 0.00008284●●●●●●
188. 179430818 c.80041C>T p.L26681F missense 0.00008284●●●●●●
189. 179399178 c.102164T>C p.V34055A missense 0.00008283●●●●●●
190. 179645973 c.3398A>G p.N1133S missense 0.00008283●●●●●●
191. 179411922 c.94330T>C p.W31444R missense 0.00008282●●●●●●
192. 179639770 c.6668A>T p.H2223L missense 0.00008249●●●●●●
193. 179644848 c.3608G>C p.G1203A missense 0.00008249●●●●●●
194. 179631243 c.9568G>T p.V3190F missense 0.00008244●●●●●●
195. 179634994 c.8434G>C p.V2812L missense 0.00008243●●●●●●
196. 179648805 c.2767G>A p.E923K missense 0.00008243●●●●●●
197. 179638739 c.7156G>A p.G2386S missense 0.00008243●●●●●●
198. 179629391 c.9851A>G p.K3284R missense 0.00008240●●●●●●
199. 179650587 c.2358C>G p.H786Q missense 0.00008240●●●●●●
200. 179641009 c.5582G>A p.R1861H missense 0.00008238●●●●●●
201. 179443369 c.68298C>A p.D22766E missense 0.00008238●●●●●●
202. 179487410 c.44900G>A p.R14967Q missense 0.00008219●●●●●●
203. 179464169 c.56351G>A p.R18784H missense 0.00008186●●●●●●
204. 179392469 c.107384T>C p.V35795A missense 0.00008123●●●●●●
205. 179448394 c.65515G>A p.A21839T missense 0.00008082●●●●●●
206. 179559571 c.31333G>T p.V10445F missense 0.00007997●●●●●●
207. 179429186 c.81673G>A p.V27225I missense 0.00007990●●●●●●
208. 179454968 c.61484G>A p.R20495H missense 0.00007987●●●●●●
209. 179446405 c.66590G>A p.R22197Q missense 0.00007942●●●●●●
210. 179497119 c.43502C>A p.T14501N missense 0.00007918●●●●●●
211. 179504506 c.40796C>T p.T13599I missense 0.00007910●●●●●●
212. 179497134 c.43487G>A p.R14496Q missense 0.00007908●●●●●●
213. 179600304 c.14869A>C p.T4957P missense 0.00007895●●●●●●
214. 179510703 c.40352C>A p.P13451H missense 0.00007893●●●●●●
215. 179411602 c.94553T>C p.V31518A missense 0.00007892●●●●●●
216. 179559591 c.31313G>A p.R10438Q missense 0.00007874●●●●●●
217. 179531604 c.35822T>C p.I11941T missense 0.00007871●●●●●●
218. 179599611 c.15040A>G p.T5014A missense 0.00007869●●●●●●
219. 179396631 c.104711G>A p.R34904K missense 0.00007857●●●●●●
220. 179534397 c.35392G>A p.E11798K missense 0.00007835●●●●●●
221. 179452058 c.63880G>A p.G21294S missense 0.00007827●●●●●●
222. 179530128 c.36019G>C p.E12007Q missense 0.00007824●●●●●●
223. 179560649 c.31150T>G p.W10384G missense 0.00007821●●●●●●
224. 179531583 c.35843T>C p.I11948T missense 0.00007761●●●●●●
225. 179407087 c.97396G>A p.E32466K missense 0.00007709●●●●●●
226. 179579255 c.26246T>C p.V8749A missense 0.00007693●●●●●●
227. 179453729 c.62723G>A p.R20908Q missense 0.00007685●●●●●●
228. 179528420 c.36466G>C p.E12156Q missense 0.00007651●●●●●●
229. 179467255 c.54874G>C p.G18292R missense 0.00007634●●●●●●
230. 179410809 c.95154C>A p.S31718R missense 0.00007625●●●●●●
231. 179408268 c.96432G>T p.K32144N missense 0.00007616●●●●●●
232. 179452031 c.63907G>A p.V21303M missense 0.00007577●●●●●●
233. 179584982 c.23387G>A p.R7796Q missense 0.00007575●●●●●●
234. 179482119 c.47693G>A p.R15898Q missense 0.00007574●●●●●●
235. 179594862 c.18265G>A p.D6089N missense 0.00007563●●●●●●
236. 179584525 c.23694G>A p.M7898I missense 0.00007558●●●●●●
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1895. 179528762 c.36344C>G p.P12115R missense 0.00002599●●●●●●
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1898. 179411579 c.94576A>G p.I31526V missense 0.00002590●●●●●●
1899. 179450060 c.64411C>T p.L21471F missense 0.00002587●●●●●●
1900. 179501145 c.41309C>A p.T13770K missense 0.00002586●●●●●●
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1903. 179477264 c.49988T>C p.I16663T missense 0.00002581●●●●●●
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1912. 179549645 c.32542C>T p.P10848S missense 0.00002569●●●●●●
1913. 179424424 c.86435T>C p.I28812T missense 0.00002569●●●●●●
1914. 179439880 c.70979G>A p.R23660Q missense 0.00002569●●●●●●
1915. 179495073 c.44176G>A p.G14726S missense 0.00002568●●●●●●
1916. 179411338 c.94817G>A p.R31606Q missense 0.00002567●●●●●●
1917. 179582534 c.25067G>A p.R8356H missense 0.00002567●●●●●●
1918. 179404818 c.98075C>G p.T32692R missense 0.00002567●●●●●●
1919. 179424523 c.86336G>A p.R28779Q missense 0.00002567●●●●●●
1920. 179593650 c.19115T>C p.V6372A missense 0.00002567●●●●●●
1921. 179474452 c.51698C>T p.P17233L missense 0.00002566●●●●●●
1922. 179391992 c.107723T>C p.I35908T missense 0.00002565●●●●●●
1923. 179460410 c.57671G>A p.R19224H missense 0.00002562●●●●●●
1924. 179391987 c.107728G>A p.E35910K missense 0.00002561●●●●●●
1925. 179586798 c.22592G>A p.S7531N missense 0.00002561●●●●●●
1926. 179482150 c.47662G>A p.G15888R missense 0.00002560●●●●●●
1927. 179426881 c.83978C>A p.T27993N missense 0.00002557●●●●●●
1928. 179587631 c.21995T>A p.L7332Q missense 0.00002557●●●●●●
1929. 179600748 c.14425G>A p.G4809S missense 0.00002557●●●●●●
1930. 179517458 c.38965G>A p.E12989K missense 0.00002556●●●●●●
1931. 179667057 c.103C>G p.P35A missense 0.00002555●●●●●●
1932. 179593729 c.19036G>A p.V6346M missense 0.00002554●●●●●●
1933. 179469764 c.54140C>T p.A18047V missense 0.00002553●●●●●●
1934. 179588603 c.21383G>A p.R7128H missense 0.00002553●●●●●●
1935. 179647327 c.3103T>G p.S1035A missense 0.00002553●●●●●●
1936. 179656920 c.1541G>A p.R514K missense 0.00002552●●●●●●
1937. 179517410 c.39013C>T p.P13005S missense 0.00002552●●●●●●
1938. 179517413 c.39010C>T p.P13004S missense 0.00002552●●●●●●
1939. 179516467 c.39389C>T p.P13130L missense 0.00002551●●●●●●
1940. 179496910 c.43711A>G p.M14571V missense 0.00002550●●●●●●
1941. 179587610 c.22016C>T p.S7339L missense 0.00002549●●●●●●
1942. 179391977 c.107738T>C p.V35913A missense 0.00002549●●●●●●
1943. 179400541 c.100801G>T p.G33601C missense 0.00002549●●●●●●
1944. 179583897 c.24220G>A p.V8074M missense 0.00002549●●●●●●
1945. 179588330 c.21497T>G p.F7166C missense 0.00002549●●●●●●
1946. 179517388 c.39035C>T p.P13012L missense 0.00002548●●●●●●
1947. 179415738 c.91520C>T p.P30507L missense 0.00002547●●●●●●
1948. 179656845 c.1616T>A p.I539N missense 0.00002546●●●●●●
1949. 179596266 c.17227C>T p.R5743W missense 0.00002545●●●●●●
1950. 179504465 c.40837G>A p.A13613T missense 0.00002545●●●●●●
1951. 179549074 c.32705C>T p.A10902V missense 0.00002545●●●●●●
1952. 179588995 c.21107A>T p.D7036V missense 0.00002545●●●●●●
1953. 179411738 c.94514A>C p.N31505T missense 0.00002543●●●●●●
1954. 179466511 c.55306G>A p.E18436K missense 0.00002542●●●●●●
1955. 179593711 c.19054A>G p.R6352G missense 0.00002542●●●●●●
1956. 179401171 c.100303A>C p.K33435Q missense 0.00002542●●●●●●
1957. 179437910 c.72949G>A p.A24317T missense 0.00002542●●●●●●
1958. 179501156 c.41298A>C p.E13766D missense 0.00002541●●●●●●
1959. 179400940 c.100534A>T p.N33512Y missense 0.00002541●●●●●●
1960. 179500876 c.41422C>T p.R13808C missense 0.00002540●●●●●●
1961. 179582370 c.25231G>A p.V8411I missense 0.00002538●●●●●●
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1963. 179500875 c.41423G>A p.R13808H missense 0.00002536●●●●●●
1964. 179445270 c.66836T>G p.M22279R missense 0.00002535●●●●●●
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2016. 179427237 c.83622T>G p.D27874E missense 0.00002511●●●●●●
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2018. 179477073 c.50179G>A p.A16727T missense 0.00002511●●●●●●
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2027. 179556743 c.31762G>A p.V10588I missense 0.00002509●●●●●●
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10758. 179638729 c.7166T>A p.M2389K missense 0.00000824●●●●●●
10759. 179638742 c.7153G>A p.E2385K missense 0.00000824●●●●●●
10760. 179638994 c.6997C>G p.Q2333E missense 0.00000824●●●●●●
10761. 179638997 c.6994G>T p.D2332Y missense 0.00000824●●●●●●
10762. 179639050 c.6941T>C p.I2314T missense 0.00000824●●●●●●
10763. 179639084 c.6907G>C p.D2303H missense 0.00000824●●●●●●
10764. 179639089 c.6902A>T p.H2301L missense 0.00000824●●●●●●
10765. 179639092 c.6899A>G p.Y2300C missense 0.00000824●●●●●●
10766. 179639092 c.6899A>T p.Y2300F missense 0.00000824●●●●●●
10767. 179640463 c.6128A>G p.K2043R missense 0.00000824●●●●●●
10768. 179640479 c.6112C>A p.L2038I missense 0.00000824●●●●●●
10769. 179640482 c.6109G>C p.E2037Q missense 0.00000824●●●●●●
10770. 179640493 c.6098A>T p.K2033M missense 0.00000824●●●●●●
10771. 179640504 c.6087A>C p.E2029D missense 0.00000824●●●●●●
10772. 179640507 c.6084G>T p.E2028D missense 0.00000824●●●●●●
10773. 179640516 c.6075A>C p.E2025D missense 0.00000824●●●●●●
10774. 179640536 c.6055A>C p.K2019Q missense 0.00000824●●●●●●
10775. 179640548 c.6043G>A p.A2015T missense 0.00000824●●●●●●
10776. 179640554 c.6037A>G p.I2013V missense 0.00000824●●●●●●
10777. 179640562 c.6029A>G p.Y2010C missense 0.00000824●●●●●●
10778. 179640616 c.5975A>G p.E1992G missense 0.00000824●●●●●●
10779. 179640620 c.5971C>T p.P1991S missense 0.00000824●●●●●●
10780. 179640631 c.5960A>G p.H1987R missense 0.00000824●●●●●●
10781. 179640675 c.5916A>T p.E1972D missense 0.00000824●●●●●●
10782. 179640685 c.5906A>T p.D1969V missense 0.00000824●●●●●●
10783. 179640707 c.5884C>A p.Q1962K missense 0.00000824●●●●●●
10784. 179640754 c.5837G>A p.R1946K missense 0.00000824●●●●●●
10785. 179640775 c.5816T>A p.L1939H missense 0.00000824●●●●●●
10786. 179640781 c.5810C>G p.S1937C missense 0.00000824●●●●●●
10787. 179640794 c.5797G>A p.E1933K missense 0.00000824●●●●●●
10788. 179640799 c.5792A>T p.Q1931L missense 0.00000824●●●●●●
10789. 179640806 c.5785A>T p.I1929F missense 0.00000824●●●●●●
10790. 179640833 c.5758G>A p.V1920M missense 0.00000824●●●●●●
10791. 179640863 c.5728G>A p.V1910M missense 0.00000824●●●●●●
10792. 179640922 c.5669G>C p.R1890P missense 0.00000824●●●●●●
10793. 179640958 c.5633G>A p.G1878E missense 0.00000824●●●●●●
10794. 179640964 c.5627T>A p.L1876H missense 0.00000824●●●●●●
10795. 179640973 c.5618A>G p.N1873S missense 0.00000824●●●●●●
10796. 179640988 c.5603C>G p.P1868R missense 0.00000824●●●●●●
10797. 179641002 c.5589G>T p.R1863S missense 0.00000824●●●●●●
10798. 179641027 c.5564G>A p.G1855E missense 0.00000824●●●●●●
10799. 179641029 c.5562A>T p.E1854D missense 0.00000824●●●●●●
10800. 179641034 c.5557C>G p.L1853V missense 0.00000824●●●●●●
10801. 179641034 c.5557C>T p.L1853F missense 0.00000824●●●●●●
10802. 179641046 c.5545C>G p.P1849A missense 0.00000824●●●●●●
10803. 179641054 c.5537A>G p.Y1846C missense 0.00000824●●●●●●
10804. 179641061 c.5530G>T p.V1844F missense 0.00000824●●●●●●
10805. 179641082 c.5509G>A p.E1837K missense 0.00000824●●●●●●
10806. 179641088 c.5503C>A p.Q1835K missense 0.00000824●●●●●●
10807. 179641100 c.5491G>A p.V1831I missense 0.00000824●●●●●●
10808. 179641895 c.4795C>T p.H1599Y missense 0.00000824●●●●●●
10809. 179641898 c.4792C>T p.P1598S missense 0.00000824●●●●●●
10810. 179641904 c.4786A>G p.I1596V missense 0.00000824●●●●●●
10811. 179646981 c.3338T>C p.V1113A missense 0.00000824●●●●●●
10812. 179646984 c.3335A>T p.H1112L missense 0.00000824●●●●●●
10813. 179647017 c.3302T>C p.F1101S missense 0.00000824●●●●●●
10814. 179647047 c.3272A>G p.Q1091R missense 0.00000824●●●●●●
10815. 179647640 c.2993C>G p.A998G missense 0.00000824●●●●●●
10816. 179647644 c.2989A>G p.I997V missense 0.00000824●●●●●●
10817. 179647676 c.2957C>T p.S986F missense 0.00000824●●●●●●
10818. 179648820 c.2752G>T p.V918L missense 0.00000824●●●●●●
10819. 179648881 c.2691G>C p.E897D missense 0.00000824●●●●●●
10820. 179648933 c.2639A>G p.Q880R missense 0.00000824●●●●●●
10821. 179648950 c.2622G>T p.E874D missense 0.00000824●●●●●●
10822. 179648955 c.2617G>A p.A873T missense 0.00000824●●●●●●
10823. 179648978 c.2594A>C p.K865T missense 0.00000824●●●●●●
10824. 179648985 c.2587A>C p.T863P missense 0.00000824●●●●●●
10825. 179650397 c.2443C>T p.H815Y missense 0.00000824●●●●●●
10826. 179650400 c.2440C>G p.P814A missense 0.00000824●●●●●●
10827. 179650453 c.2387A>C p.D796A missense 0.00000824●●●●●●
10828. 179650621 c.2324C>T p.T775I missense 0.00000824●●●●●●
10829. 179650650 c.2295G>T p.K765N missense 0.00000824●●●●●●
10830. 179654725 c.1918G>A p.V640M missense 0.00000824●●●●●●
10831. 179655460 c.1775A>T p.D592V missense 0.00000824●●●●●●
10832. 179655464 c.1771C>G p.Q591E missense 0.00000824●●●●●●
10833. 179655469 c.1766C>T p.T589I missense 0.00000824●●●●●●
10834. 179655470 c.1765A>G p.T589A missense 0.00000824●●●●●●
10835. 179655470 c.1765A>T p.T589S missense 0.00000824●●●●●●
10836. 179655484 c.1751A>G p.Q584R missense 0.00000824●●●●●●
10837. 179655487 c.1748C>T p.A583V missense 0.00000824●●●●●●
10838. 179655536 c.1699G>C p.V567L missense 0.00000824●●●●●●
10839. 179658161 c.1506G>T p.K502N missense 0.00000824●●●●●●
10840. 179658166 c.1501A>G p.T501A missense 0.00000824●●●●●●
10841. 179658169 c.1498A>G p.T500A missense 0.00000824●●●●●●
10842. 179658223 c.1444G>T p.A482S missense 0.00000824●●●●●●
10843. 179658253 c.1414G>A p.E472K missense 0.00000824●●●●●●
10844. 179659146 c.1378A>G p.I460V missense 0.00000824●●●●●●
10845. 179659154 c.1370C>T p.A457V missense 0.00000824●●●●●●
10846. 179659160 c.1364C>G p.T455R missense 0.00000824●●●●●●
10847. 179659188 c.1336G>A p.V446I missense 0.00000824●●●●●●
10848. 179659190 c.1334C>T p.A445V missense 0.00000824●●●●●●
10849. 179659190 c.1334C>A p.A445D missense 0.00000824●●●●●●
10850. 179659195 c.1329C>G p.I443M missense 0.00000824●●●●●●
10851. 179659196 c.1328T>G p.I443S missense 0.00000824●●●●●●
10852. 179659199 c.1325T>C p.V442A missense 0.00000824●●●●●●
10853. 179659206 c.1318G>A p.E440K missense 0.00000824●●●●●●
10854. 179659217 c.1307C>T p.A436V missense 0.00000824●●●●●●
10855. 179659218 c.1306G>A p.A436T missense 0.00000824●●●●●●
10856. 179659220 c.1304T>C p.M435T missense 0.00000824●●●●●●
10857. 179659257 c.1267A>C p.S423R missense 0.00000824●●●●●●
10858. 179659266 c.1258G>A p.A420T missense 0.00000824●●●●●●
10859. 179659268 c.1256A>C p.D419A missense 0.00000824●●●●●●
10860. 179659798 c.1096A>G p.T366A missense 0.00000824●●●●●●
10861. 179659831 c.1063T>A p.S355T missense 0.00000824●●●●●●
10862. 179659845 c.1049A>G p.Y350C missense 0.00000824●●●●●●
10863. 179659888 c.1006G>C p.A336P missense 0.00000824●●●●●●
10864. 179659897 c.997T>G p.S333A missense 0.00000824●●●●●●
10865. 179659905 c.989C>T p.T330I missense 0.00000824●●●●●●
10866. 179659911 c.983G>A p.R328H missense 0.00000824●●●●●●
10867. 179659938 c.956G>C p.R319T missense 0.00000824●●●●●●
10868. 179664232 c.896C>T p.P299L missense 0.00000824●●●●●●
10869. 179664243 c.885C>A p.H295Q missense 0.00000824●●●●●●
10870. 179664251 c.877G>A p.V293I missense 0.00000824●●●●●●
10871. 179664253 c.875C>T p.P292L missense 0.00000824●●●●●●
10872. 179664259 c.869C>T p.P290L missense 0.00000824●●●●●●
10873. 179664259 c.869C>A p.P290H missense 0.00000824●●●●●●
10874. 179664280 c.848C>T p.P283L missense 0.00000824●●●●●●
10875. 179664281 c.847C>G p.P283A missense 0.00000824●●●●●●
10876. 179664310 c.818C>T p.A273V missense 0.00000824●●●●●●
10877. 179664316 c.812T>C p.I271T missense 0.00000824●●●●●●
10878. 179664322 c.806C>T p.P269L missense 0.00000824●●●●●●
10879. 179664325 c.803C>T p.P268L missense 0.00000824●●●●●●
10880. 179664352 c.776C>T p.P259L missense 0.00000824●●●●●●
10881. 179664377 c.751C>A p.H251N missense 0.00000824●●●●●●
10882. 179664386 c.742C>A p.Q248K missense 0.00000824●●●●●●
10883. 179664401 c.727G>A p.G243S missense 0.00000824●●●●●●
10884. 179664407 c.721A>G p.I241V missense 0.00000824●●●●●●
10885. 179664419 c.709G>A p.V237I missense 0.00000824●●●●●●
10886. 179664422 c.706A>G p.T236A missense 0.00000824●●●●●●
10887. 179664442 c.686T>C p.F229S missense 0.00000824●●●●●●
10888. 179664454 c.674T>C p.I225T missense 0.00000824●●●●●●
10889. 179665221 c.484C>G p.L162V missense 0.00000824●●●●●●
10890. 179666877 c.283C>T p.L95F missense 0.00000824●●●●●●
10891. 179666886 c.274A>T p.T92S missense 0.00000824●●●●●●
10892. 179666901 c.259G>A p.G87R missense 0.00000824●●●●●●
10893. 179666903 c.257C>A p.S86Y missense 0.00000824●●●●●●
10894. 179666906 c.254G>A p.G85E missense 0.00000824●●●●●●
10895. 179666925 c.235T>A p.S79T missense 0.00000824●●●●●●
10896. 179666934 c.226G>A p.G76R missense 0.00000824●●●●●●
10897. 179666939 c.221A>G p.N74S missense 0.00000824●●●●●●
10898. 179666972 c.188C>T p.A63V missense 0.00000824●●●●●●
10899. 179666981 c.179A>T p.D60V missense 0.00000824●●●●●●
10900. 179666982 c.178G>A p.D60N missense 0.00000824●●●●●●
10901. 179632774 c.9272_9274delTGA p.Met3091del inframe 0.00000824●●●●●●
10902. 179650628 c.2317_2319delTCT p.Ser773del inframe 0.00000824●●●●●●
10903. 179655464 c.1771_1773delCAA p.Gln591del inframe 0.00000824●●●●●●
10904. 179658173 c.1494_1496delAAT p.Ile499del inframe 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.