TTN truncating variants in ExAC

TTN gene summary
TTN variants in

The table below lists the TTN truncating 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. 179666886 c.274dupA p.Thr92AsnfsTer3 frameshift 0.00000824●●●●●●
2. 179665380 c.325C>T p.R109X nonsense 0.00000847●●●●●●
3. 179664638 c.584-1G>T essential splice site 0.00000829●●●●●●
4. 179664563 c.658C>T p.R220X nonsense 0.00000826●●●●●●
5. 179664340 c.788C>A p.S263X nonsense 0.00000824●●●●●●
6. 179659980 c.915-1G>A essential splice site 0.00000827●●●●●●
7. 179658269 c.1399-1G>C essential splice site 0.00000825●●●●●●
8. 179658212 c.1455dupA p.Ala486SerfsTer26 frameshift 0.00000824●●●●●●
9. 179656926 c.1537-2A>G essential splice site 0.00001709●●●●●●
10. 179655518 c.1717_1718delAA p.Lys573ValfsTer26 frameshift 0.00000824●●●●●●
11. 179655503 c.1732dupG p.Glu578GlyfsTer22 frameshift 0.00000824●●●●●●
12. 179655434 c.1800+1G>A essential splice site 0.00004943●●●●●●
13. 179654710 c.1933G>T p.E645X nonsense 0.00000824●●●●●●
14. 179654704 c.1938+1G>T essential splice site 0.00000824●●●●●●
15. 179650794 c.2151delC p.Arg718GlufsTer29 frameshift 0.00000828●●●●●●
16. 179650594 c.2351delG p.Gly784GlufsTer14 frameshift 0.00000824●●●●●●
17. 179650470 c.2371-1G>A essential splice site 0.00004120●●●●●●
18. 179648873 c.2699dupA p.Glu901GlyfsTer13 frameshift 0.00000824●●●●●●
19. 179647781 c.2852dupA p.Asn951LysfsTer8 frameshift 0.00000830●●●●●●
20. 179647326 c.3104C>A p.S1035X nonsense 0.00000851●●●●●●
21. 179647321 c.3109G>T p.E1037X nonsense 0.00000848●●●●●●
22. 179647298 c.3132_3133insCTTTGAAAAGAATTTGAAAAGGAAACCACA nonsense 0.00000839●●●●●●
23. 179645991 c.3381-1G>T essential splice site 0.00000836●●●●●●
24. 179644806 c.3650_3651delAG p.Glu1217ValfsTer2 frameshift 0.00000825●●●●●●
25. 179644726 c.3729+1G>A essential splice site 0.00000826●●●●●●
26. 179642630 c.4281delG p.Met1427IlefsTer35 frameshift 0.00000828●●●●●●
27. 179642430 c.4480+1G>A essential splice site 0.00000824●●●●●●
28. 179642027 c.4663A>T p.K1555X nonsense 0.00000831●●●●●●
29. 179641711 c.4880G>A p.W1627X nonsense 0.00000830●●●●●●
30. 179641524 c.5067G>A p.W1689X nonsense 0.00000825●●●●●●
31. 179640969 c.5622G>A p.W1874X nonsense 0.00000824●●●●●●
32. 179640213 c.6378G>A p.W2126X nonsense 0.00000826●●●●●●
33. 179639656 c.6782_6783delTT p.Ile2261SerfsTer2 frameshift 0.00000828●●●●●●
34. 179639143 c.6848C>A p.S2283X nonsense 0.00000827●●●●●●
35. 179638933 c.7057+1G>A essential splice site 0.00000825●●●●●●
36. 179638587 c.7308delC p.Ser2437ValfsTer11 frameshift 0.00000830●●●●●●
37. 179638282 c.7501C>T p.R2501X nonsense 0.00000825●●●●●●
38. 179638267 c.7516C>T p.R2506X nonsense 0.00000825●●●●●●
39. 179637835 c.7855+1G>A essential splice site 0.00000830●●●●●●
40. 179636006 c.8048T>A p.L2683X nonsense 0.00000825●●●●●●
41. 179634405 c.8902+1G>A essential splice site 0.00001688●●●●●●
42. 179632884 c.9164-2A>T essential splice site 0.00000841●●●●●●
43. 179632509 c.9448C>T p.R3150X nonsense 0.00001649●●●●●●
44. 179631234 c.9577C>T p.R3193X nonsense 0.00000824●●●●●●
45. 179629539 c.9704-1G>T essential splice site 0.00000842●●●●●●
46. 179629006 c.10012C>T p.Q3338X nonsense 0.00000830●●●●●●
47. 179623709 c.10303+2T>C essential splice site 0.00000825●●●●●●
48. 179622431 c.10516delC p.Leu3506TyrfsTer6 frameshift 0.00000829●●●●●●
49. 179622379 c.10568T>G p.L3523X nonsense 0.00000829●●●●●●
50. 179622357 c.10590C>A p.Y3530X nonsense 0.00000830●●●●●●
51. 179622355 c.10592C>G p.S3531X nonsense 0.00000830●●●●●●
52. 179622330 c.10617C>A p.C3539X nonsense 0.00000844●●●●●●
53. 179622283 c.10664_10665delCA p.Thr3555SerfsTer10 frameshift 0.00000900●●●●●●
54. 179621409 c.10794dupT p.Lys3599Ter frameshift 0.00001660●●●●●●
55. 179621404 c.10799C>A p.S3600X nonsense 0.00001660●●●●●●
56. 179621384 c.10819G>T p.Glu3607Ter nonsense 0.00002491●●●●●●
57. 179621363 c.10840G>T p.Glu3614Ter nonsense 0.00008309●●●●●●
58. 179621351 c.10852C>T p.Q3618X nonsense 0.00000832●●●●●●
59. 179621184 c.11019_11020insTGGAATTGTATAATTTTCTCATGGCA p.Gly3674TrpfsTer19 frameshift 0.00000831●●●●●●
60. 179621119 c.11084_11085insA p.His3695GlnfsTer27 frameshift 0.00000830●●●●●●
61. 179621090 c.11113delA p.R3705Dfs*2 frameshift 0.00001660●●●●●●
62. 179621082 c.11121delA p.Lys3707AsnfsTer19 frameshift 0.00000830●●●●●●
63. 179621020 c.11183dupG p.Leu3729ThrfsTer9 frameshift 0.00009947●●●●●●
64. 179621013 c.11190C>G p.Y3730X nonsense 0.00000829●●●●●●
65. 179620982 c.11221_11222delAG p.Arg3741AspfsTer13 frameshift 0.00000831●●●●●●
66. 179620948 c.11254+1G>C essential splice site 0.00002619●●●●●●
67. 179620947 c.11254+2T>C essential splice site 0.00040205●●●●●●
68. 179605889 c.12071delC p.Ala4024GlufsTer12 frameshift 0.00000830●●●●●●
69. 179605602 c.12358C>T p.Q4120X nonsense 0.00000829●●●●●●
70. 179605373 c.12587C>A p.S4196X nonsense 0.00001659●●●●●●
71. 179605317 c.12643C>T p.Q4215X nonsense 0.00000829●●●●●●
72. 179604825 c.13135dupT p.Ser4379PhefsTer2 frameshift 0.00000830●●●●●●
73. 179604274 c.13686delT p.Asp4563ThrfsTer8 frameshift 0.00000830●●●●●●
74. 179604264 c.13696C>T p.Q4566X nonsense 0.00000829●●●●●●
75. 179604255 c.13705_13706delAG p.Leu4570GlufsTer12 frameshift 0.00000829●●●●●●
76. 179604017 c.13943_13947dupAAAAG p.Phe4650LysfsTer14 frameshift 0.00000850●●●●●●
77. 179600803 c.14372-2A>G essential splice site 0.00000921●●●●●●
78. 179600420 c.14753_14754delCA p.Thr4918SerfsTer17 frameshift 0.00000831●●●●●●
79. 179600392 c.14781_14782insA p.Leu4928ThrfsTer8 frameshift 0.00000832●●●●●●
80. 179600299 c.14874T>G p.Y4958X nonsense 0.00000885●●●●●●
81. 179599555 c.15096delT p.Phe5032LeufsTer13 frameshift 0.00000830●●●●●●
82. 179598224 c.15796C>T p.R5266X nonsense 0.00000832●●●●●●
83. 179598068 c.15952delC p.Leu5318SerfsTer34 frameshift 0.00000830●●●●●●
84. 179597846 c.16057C>T p.R5353X nonsense 0.00000895●●●●●●
85. 179597166 c.16621+1G>T essential splice site 0.00002586●●●●●●
86. 179596419 c.17182+1G>A essential splice site 0.00000858●●●●●●
87. 179596031 c.17461+1G>C essential splice site 0.00000830●●●●●●
88. 179596031 c.17461+1G>T essential splice site 0.00000830●●●●●●
89. 179595829 c.17563A>T p.K5855X nonsense 0.00000829●●●●●●
90. 179595759 c.17633_17634insT p.Ile5879AsnfsTer12 frameshift 0.00000828●●●●●●
91. 179595728 c.17664delA p.Asp5889IlefsTer25 frameshift 0.00000829●●●●●●
92. 179595651 c.17740+1G>A essential splice site 0.00000887●●●●●●
93. 179595041 c.18086_18087dupTA p.Gln6030TyrfsTer3 frameshift 0.00000913●●●●●●
94. 179594439 c.18541C>T p.R6181X nonsense 0.00000829●●●●●●
95. 179593652 c.19113delA p.Val6372LeufsTer9 frameshift 0.00000855●●●●●●
96. 179593442 c.19211T>A p.L6404X nonsense 0.00000833●●●●●●
97. 179593125 c.19427-1G>C essential splice site 0.00000983●●●●●●
98. 179593025 c.19526_19527insT p.Ile6510HisfsTer2 frameshift 0.00000847●●●●●●
99. 179592591 c.19715-1G>A essential splice site 0.00001836●●●●●●
100. 179592387 c.19918_19919delAA p.Lys6640AspfsTer11 frameshift 0.00000834●●●●●●
101. 179592036 c.20056C>T p.R6686X nonsense 0.00000848●●●●●●
102. 179589257 c.20845_20848delGTCA p.Val6949LeufsTer8 frameshift 0.00000879●●●●●●
103. 179589169 c.20933_20934delCT p.Ser6978CysfsTer2 frameshift 0.00001661●●●●●●
104. 179588871 c.21116-1G>A essential splice site 0.00001724●●●●●●
105. 179588844 c.21142C>T p.R7048X nonsense 0.00001695●●●●●●
106. 179588582 c.21403+1G>A essential splice site 0.00000875●●●●●●
107. 179588342 c.21485delG p.Gly7162GlufsTer16 frameshift 0.00000855●●●●●●
108. 179587926 c.21808delA p.Ile7270Ter frameshift 0.00001669●●●●●●
109. 179587193 c.22321C>T p.R7441X nonsense 0.00000830●●●●●●
110. 179586788 c.22602dupT p.Glu7535Ter frameshift 0.00000845●●●●●●
111. 179586773 c.22617dupT p.Gly7540TrpfsTer13 frameshift 0.00000835●●●●●●
112. 179586757 c.22633C>T p.R7545X nonsense 0.00000831●●●●●●
113. 179586645 c.22745_22746delCT p.Ser7582TrpfsTer10 frameshift 0.00000830●●●●●●
114. 179584983 c.23386C>T p.R7796X nonsense 0.00001683●●●●●●
115. 179584974 c.23395A>T p.K7799X nonsense 0.00000838●●●●●●
116. 179584710 c.23659G>T p.E7887X nonsense 0.00001127●●●●●●
117. 179583702 c.24227-2A>G essential splice site 0.00001195●●●●●●
118. 179583048 c.24784+1G>A essential splice site 0.00000838●●●●●●
119. 179582820 c.24913C>T p.R8305X nonsense 0.00002488●●●●●●
120. 179582669 c.25063+1G>A essential splice site 0.00000835●●●●●●
121. 179582249 c.25351+1G>T essential splice site 0.00000893●●●●●●
122. 179582111 c.25352-2A>G essential splice site 0.00000851●●●●●●
123. 179582014 c.25447delG p.Ala8483HisfsTer22 frameshift 0.00000829●●●●●●
124. 179581962 c.25499delG p.Gly8500AlafsTer5 frameshift 0.00001659●●●●●●
125. 179581883 c.25578C>A p.Y8526X nonsense 0.00000833●●●●●●
126. 179581820 c.25639+2T>G essential splice site 0.00000875●●●●●●
127. 179581820 c.25639+2T>C essential splice site 0.00000875●●●●●●
128. 179580345 c.25796C>A p.S8599X nonsense 0.00000838●●●●●●
129. 179579885 c.26028delG p.Trp8676CysfsTer16 frameshift 0.00003313●●●●●●
130. 179579299 c.26202delA p.Pro8735HisfsTer5 frameshift 0.00000924●●●●●●
131. 179577423 c.27328+1G>A essential splice site 0.00002500●●●●●●
132. 179577224 c.27425_27426insCCATTTC p.Val9143HisfsTer19 frameshift 0.00000833●●●●●●
133. 179577103 c.27546C>A p.Y9182X nonsense 0.00000828●●●●●●
134. 179574554 c.28492A>T p.R9498X nonsense 0.00000832●●●●●●
135. 179574466 c.28580G>A p.W9527X nonsense 0.00000828●●●●●●
136. 179574292 c.28753+1G>A essential splice site 0.00001727●●●●●●
137. 179571683 c.29042-2A>C essential splice site 0.00016130●●●●●●
138. 179571356 c.29245C>T p.Q9749X nonsense 0.00000828●●●●●●
139. 179571180 c.29420+1G>C essential splice site 0.00001257●●●●●●
140. 179569677 c.29621_29624delAGAG p.Glu9874GlyfsTer28 frameshift 0.00000829●●●●●●
141. 179569236 c.29962+1G>T essential splice site 0.00003384●●●●●●
142. 179569006 c.30091C>T p.Q10031X nonsense 0.00000828●●●●●●
143. 179568928 c.30169C>T p.Q10057X nonsense 0.00000828●●●●●●
144. 179568911 c.30186T>G p.Y10062X nonsense 0.00001656●●●●●●
145. 179568873 c.30223+1G>A essential splice site 0.00000831●●●●●●
146. 179566974 c.30434-2A>G essential splice site 0.00000829●●●●●●
147. 179566315 c.30539-1G>A essential splice site 0.00000829●●●●●●
148. 179560679 c.31120G>T p.E10374X nonsense 0.00006096●●●●●●
149. 179558647 c.31513+2T>A essential splice site 0.00000907●●●●●●
150. 179554624 c.31763-1G>A essential splice site 0.00027334●●●●●●
151. 179554324 c.31847-2A>G essential splice site 0.00001100●●●●●●
152. 179554294 c.31875delA p.Glu10626LysfsTer4 frameshift 0.00001013●●●●●●
153. 179554062 c.31966A>T p.K10656X nonsense 0.00000834●●●●●●
154. 179553779 c.32095+1G>A essential splice site 0.00023255●●●●●●
155. 179553474 c.32127_32131delAAAGA p.Lys10710IlefsTer4 frameshift 0.00000829●●●●●●
156. 179553468 c.32133dupA p.Phe10712IlefsTer4 frameshift 0.00000829●●●●●●
157. 179552886 c.32263_32264dupGA p.Glu10756LysfsTer17 frameshift 0.00000828●●●●●●
158. 179549717 c.32471-1G>A essential splice site 0.00006805●●●●●●
159. 179549478 c.32555-2A>C essential splice site 0.00001670●●●●●●
160. 179549473 c.32558delC p.Pro10853GlnfsTer28 frameshift 0.00000834●●●●●●
161. 179548810 c.32723-1G>C essential splice site 0.00000833●●●●●●
162. 179547937 c.32887+1G>T essential splice site 0.00009465●●●●●●
163. 179546397 c.33163_33164insAAAAC p.Pro11055GlnfsTer7 frameshift 0.00000830●●●●●●
164. 179546137 c.33213delC p.Ile11072PhefsTer36 frameshift 0.00000857●●●●●●
165. 179544980 c.33418+1G>A essential splice site 0.00002485●●●●●●
166. 179544979 c.33418+2T>A essential splice site 0.00000829●●●●●●
167. 179544784 c.33419-2A>C essential splice site 0.00001669●●●●●●
168. 179544666 c.33535delG p.E11179Sfs*3 frameshift 0.00000830●●●●●●
169. 179544065 c.33742+1G>T essential splice site 0.00002499●●●●●●
170. 179544064 c.33742+2T>C essential splice site 0.00000833●●●●●●
171. 179539765 c.34612+1G>A essential splice site 0.00001904●●●●●●
172. 179539137 c.34613-1G>T essential splice site 0.00001934●●●●●●
173. 179537431 c.34787-1G>T essential splice site 0.00001444●●●●●●
174. 179537380 c.34837G>T p.E11613X nonsense 0.00000976●●●●●●
175. 179537361 c.34855+1G>A essential splice site 0.00005521●●●●●●
176. 179537132 c.34930+2T>C essential splice site 0.00000836●●●●●●
177. 179535815 c.35308+2T>C essential splice site 0.00000922●●●●●●
178. 179532168 c.35713+1delG essential splice site 0.00005578●●●●●●
179. 179532167 c.35713+2T>C essential splice site 0.00001395●●●●●●
180. 179531598 c.35828dupA p.Glu11945ArgfsTer6 frameshift 0.00003914●●●●●●
181. 179531550 c.35875+1G>C essential splice site 0.00004397●●●●●●
182. 179531549 c.35875+2T>C essential splice site 0.00008850●●●●●●
183. 179529380 c.36202+1G>T essential splice site 0.00000876●●●●●●
184. 179529186 c.36280+1G>T essential splice site 0.00000871●●●●●●
185. 179528826 c.36281-1G>C essential splice site 0.00000879●●●●●●
186. 179528810 c.36296_36297delAA p.Lys12099ArgfsTer5 frameshift 0.00000870●●●●●●
187. 179528741 c.36364+1G>C essential splice site 0.00002598●●●●●●
188. 179528630 c.36365-1G>C essential splice site 0.00000862●●●●●●
189. 179528630 c.36365-1G>A essential splice site 0.00000862●●●●●●
190. 179528438 c.36449-1G>C essential splice site 0.00000852●●●●●●
191. 179522298 c.37965dupT p.Pro12656SerfsTer7 frameshift 0.00001798●●●●●●
192. 179518761 c.38442dupA p.Pro12815ThrfsTer37 frameshift 0.00012069●●●●●●
193. 179518201 c.38660delA p.Lys12887ArgfsTer60 frameshift 0.00029014●●●●●●
194. 179518019 c.38737G>T p.E12913X nonsense 0.00000852●●●●●●
195. 179517992 c.38764A>T p.K12922X nonsense 0.00001701●●●●●●
196. 179517964 c.38791+1G>A essential splice site 0.00000849●●●●●●
197. 179517852 c.38792-1G>C essential splice site 0.00000839●●●●●●
198. 179517804 c.38839delA p.Thr12947LeufsTer18 frameshift 0.00000841●●●●●●
199. 179517786 c.38857G>T p.E12953X nonsense 0.00000843●●●●●●
200. 179517767 c.38875+1G>T essential splice site 0.00000844●●●●●●
201. 179517586 c.38948_38951delCTCC p.Pro12983LeufsTer94 frameshift 0.00000857●●●●●●
202. 179516907 c.39212-1G>T essential splice site 0.00001658●●●●●●
203. 179515968 c.39625+2T>C essential splice site 0.00000832●●●●●●
204. 179514544 c.39895G>T p.E13299X nonsense 0.00000830●●●●●●
205. 179514543 c.39895+1G>A essential splice site 0.00000831●●●●●●
206. 179513978 c.40054A>T p.K13352X nonsense 0.00006579●●●●●●
207. 179509274 c.40477+1G>T essential splice site 0.00001672●●●●●●
208. 179506963 c.40558+1G>A essential splice site 0.00011954●●●●●●
209. 179505967 c.40633+1G>A essential splice site 0.00004443●●●●●●
210. 179505358 c.40634-1G>A essential splice site 0.00002496●●●●●●
211. 179505267 c.40723+1G>T essential splice site 0.00000833●●●●●●
212. 179502148 c.40877-2A>G essential splice site 0.00002046●●●●●●
213. 179501285 c.41169delT p.Ser13724AlafsTer52 frameshift 0.00000831●●●●●●
214. 179500951 c.41347delG p.Val13783Ter frameshift 0.00001368●●●●●●
215. 179500887 c.41411T>G p.L13804X nonsense 0.00000866●●●●●●
216. 179500348 c.41703delT p.Pro13902GlnfsTer23 frameshift 0.00001667●●●●●●
217. 179499975 c.41941delA p.Ser13981ValfsTer19 frameshift 0.00000831●●●●●●
218. 179499273 c.42235C>T p.R14079X nonsense 0.00000830●●●●●●
219. 179498342 c.42744delT p.Thr14249LeufsTer2 frameshift 0.00000837●●●●●●
220. 179497414 c.43319G>A p.W14440X nonsense 0.00000830●●●●●●
221. 179497077 c.43544dupT p.Phe14516IlefsTer8 frameshift 0.00003414●●●●●●
222. 179496873 c.43747+1G>T essential splice site 0.00001749●●●●●●
223. 179495650 c.44035C>T p.R14679X nonsense 0.00000833●●●●●●
224. 179495080 c.44169_44170insCATAT p.Glu14724HisfsTer42 frameshift 0.00000868●●●●●●
225. 179495077 c.44172dupA p.Glu14725ArgfsTer28 frameshift 0.00000862●●●●●●
226. 179494977 c.44272C>T p.R14758X nonsense 0.00000831●●●●●●
227. 179494967 c.44281+1G>A essential splice site 0.00000831●●●●●●
228. 179494065 c.44387G>A p.W14796X nonsense 0.00000839●●●●●●
229. 179494064 c.44388G>A p.W14796X nonsense 0.00000839●●●●●●
230. 179489460 c.44549-2A>C essential splice site 0.00000844●●●●●●
231. 179487495 c.44816-1G>A essential splice site 0.00001637●●●●●●
232. 179486369 c.45182delT p.Val15061GlyfsTer19 frameshift 0.00000835●●●●●●
233. 179485441 c.45895+1G>A essential splice site 0.00000832●●●●●●
234. 179485441 c.45895+1G>T essential splice site 0.00000832●●●●●●
235. 179482787 c.47291_47292delAT p.Asn15764SerfsTer5 frameshift 0.00000837●●●●●●
236. 179482584 c.47494C>T p.R15832X nonsense 0.00000830●●●●●●
237. 179482566 c.47512C>T p.R15838X nonsense 0.00000831●●●●●●
238. 179482120 c.47692C>T p.R15898X nonsense 0.00001504●●●●●●
239. 179481455 c.48160+1G>C essential splice site 0.00000832●●●●●●
240. 179481235 c.48283C>T p.R16095X nonsense 0.00000834●●●●●●
241. 179481212 c.48306G>A p.W16102X nonsense 0.00000837●●●●●●
242. 179480446 c.48382_48383insT p.K16128Ifs*6 frameshift 0.00000831●●●●●●
243. 179479230 c.49011_49012delTG p.Cys16337TrpfsTer14 frameshift 0.00000840●●●●●●
244. 179478975 c.49149dupC p.Thr16384HisfsTer11 frameshift 0.00000837●●●●●●
245. 179477907 c.49629delC p.Leu16544Ter frameshift 0.00000847●●●●●●
246. 179477165 c.50087_50088insA p.Gly16697ArgfsTer21 frameshift 0.00000844●●●●●●
247. 179477164 c.50088delA p.Gly16697AlafsTer19 frameshift 0.00000844●●●●●●
248. 179477120 c.50132_50133delCA p.Thr16711SerfsTer6 frameshift 0.00000839●●●●●●
249. 179476842 c.50296C>T p.R16766X nonsense 0.00000878●●●●●●
250. 179474816 c.51436+1G>A essential splice site 0.00000835●●●●●●
251. 179474603 c.51547_51548delAT p.Ile17183HisfsTer6 frameshift 0.00000829●●●●●●
252. 179474483 c.51667C>T p.R17223X nonsense 0.00000830●●●●●●
253. 179474124 c.51913_51916delAAGG p.Lys17305ValfsTer13 frameshift 0.00000835●●●●●●
254. 179470279 c.53743C>T p.R17915X nonsense 0.00000830●●●●●●
255. 179469843 c.54061delG p.Val18021TyrfsTer64 frameshift 0.00000832●●●●●●
256. 179469738 c.54166C>T p.R18056X nonsense 0.00000866●●●●●●
257. 179469713 c.54190+1G>A essential splice site 0.00000872●●●●●●
258. 179469712 c.54190+2T>C essential splice site 0.00000871●●●●●●
259. 179468996 c.54418C>T p.R18140X nonsense 0.00001809●●●●●●
260. 179468762 c.54652C>T p.R18218X nonsense 0.00001657●●●●●●
261. 179466515 c.55303-1G>A essential splice site 0.00010185●●●●●●
262. 179465823 c.55808_55809insC p.Lys18604GlufsTer3 frameshift 0.00000874●●●●●●
263. 179465659 c.55972C>T p.R18658X nonsense 0.00000830●●●●●●
264. 179463948 c.56572C>T p.R18858X nonsense 0.00002722●●●●●●
265. 179463790 c.56648-1G>A essential splice site 0.00000901●●●●●●
266. 179463232 c.57111+1G>A essential splice site 0.00000840●●●●●●
267. 179462291 c.57518_57521delAGAA p.Lys19173ArgfsTer8 frameshift 0.00000926●●●●●●
268. 179460538 c.57545-2A>G essential splice site 0.00001874●●●●●●
269. 179460537 c.57545-1G>A essential splice site 0.00001843●●●●●●
270. 179459372 c.57849delT p.Val19284TyrfsTer18 frameshift 0.00000869●●●●●●
271. 179458925 c.58195C>T p.R19399X nonsense 0.00000832●●●●●●
272. 179458204 c.58733-2A>G essential splice site 0.00000840●●●●●●
273. 179457898 c.59035+2T>C essential splice site 0.00000832●●●●●●
274. 179457645 c.59201_59202delCT p.Pro19734ArgfsTer5 frameshift 0.00000828●●●●●●
275. 179457321 c.59411dupT p.Arg19805LysfsTer3 frameshift 0.00000831●●●●●●
276. 179455726 c.60726T>A p.Y20242X nonsense 0.00000829●●●●●●
277. 179454712 c.61740delT p.Asn20580LysfsTer2 frameshift 0.00000833●●●●●●
278. 179454576 c.61876C>T p.R20626X nonsense 0.00006641●●●●●●
279. 179453946 c.62506C>T p.R20836X nonsense 0.00000830●●●●●●
280. 179452435 c.63601C>T p.R21201X nonsense 0.00000836●●●●●●
281. 179452078 c.63860G>A p.W21287X nonsense 0.00000897●●●●●●
282. 179451276 c.64352T>A p.L21451X nonsense 0.00000830●●●●●●
283. 179450018 c.64453C>T p.R21485X nonsense 0.00002508●●●●●●
284. 179449002 c.65275+1G>A essential splice site 0.00000946●●●●●●
285. 179447252 c.65931G>A p.W21977X nonsense 0.00000833●●●●●●
286. 179447021 c.66160+2T>C essential splice site 0.00000850●●●●●●
287. 179446377 c.66618C>A p.C22206X nonsense 0.00000845●●●●●●
288. 179444957 c.67058-1G>A essential splice site 0.00000836●●●●●●
289. 179444665 c.67348+1G>A essential splice site 0.00000832●●●●●●
290. 179444577 c.67349-2A>C essential splice site 0.00000833●●●●●●
291. 179444429 c.67495C>T p.R22499X nonsense 0.00001660●●●●●●
292. 179443532 c.68224+1G>A essential splice site 0.00000832●●●●●●
293. 179442914 c.68330-2A>G essential splice site 0.00000833●●●●●●
294. 179442714 c.68527+1G>C essential splice site 0.00000835●●●●●●
295. 179442177 c.68885_68888dupATAC p.Ile22964TyrfsTer8 frameshift 0.00000841●●●●●●
296. 179439561 c.71298_71304delGCGGCAG p.Met23766IlefsTer10 frameshift 0.00000840●●●●●●
297. 179439501 c.71358T>G p.Y23786X nonsense 0.00000837●●●●●●
298. 179439161 c.71698delC p.Arg23900GlyfsTer2 frameshift 0.00000829●●●●●●
299. 179438031 c.72828_72831dupTCTT p.Thr24278SerfsTer3 frameshift 0.00000876●●●●●●
300. 179437659 c.73200delT p.Tyr24400Ter frameshift 0.00000835●●●●●●
301. 179435736 c.75123T>A p.Y25041X nonsense 0.00000829●●●●●●
302. 179435377 c.75482delA p.Lys25161ArgfsTer11 frameshift 0.00000830●●●●●●
303. 179434932 c.75927delA p.Ala25310LeufsTer7 frameshift 0.00000831●●●●●●
304. 179434205 c.76654C>T p.Arg25552Ter nonsense 0.00000834●●●●●●
305. 179433674 c.77185A>T p.Lys25729Ter nonsense 0.00003315●●●●●●
306. 179433366 c.77493G>A p.W25831X nonsense 0.00000830●●●●●●
307. 179432669 c.78190A>T p.R26064X nonsense 0.00000829●●●●●●
308. 179431565 c.79294C>T p.R26432X nonsense 0.00000833●●●●●●
309. 179431248 c.79611delT p.Thr26538LeufsTer6 frameshift 0.00000828●●●●●●
310. 179431248 c.79611_79612insGAAG p.Thr26538GlufsTer13 frameshift 0.00000828●●●●●●
311. 179430450 c.80409delA p.Lys26803AsnfsTer41 frameshift 0.00000829●●●●●●
312. 179430143 c.80716C>T p.R26906X nonsense 0.00000830●●●●●●
313. 179429372 c.81487G>T p.Glu27163Ter nonsense 0.00000834●●●●●●
314. 179428916 c.81943G>T p.E27315X nonsense 0.00000829●●●●●●
315. 179428848 c.82011dupA p.Asp27338ArgfsTer6 frameshift 0.00000828●●●●●●
316. 179428619 c.82240C>T p.R27414X nonsense 0.00001658●●●●●●
317. 179428494 c.82365delC p.Leu27456TrpfsTer32 frameshift 0.00000829●●●●●●
318. 179426604 c.84255C>A p.C28085X nonsense 0.00000834●●●●●●
319. 179426254 c.84605C>A p.S28202X nonsense 0.00000833●●●●●●
320. 179425795 c.85064delC p.Pro28355GlnfsTer4 frameshift 0.00000829●●●●●●
321. 179425631 c.85228_85231delGACA p.Asp28410IlefsTer5 frameshift 0.00000832●●●●●●
322. 179425592 c.85267C>T p.R28423X nonsense 0.00000832●●●●●●
323. 179425324 c.85535_85539delTAACC p.Val28512GlufsTer7 frameshift 0.00000838●●●●●●
324. 179425305 c.85554_85555insTTCC p.Asn28519PhefsTer3 frameshift 0.00000839●●●●●●
325. 179425292 c.85567_85570delTTTA p.Phe28523GlufsTer2 frameshift 0.00000840●●●●●●
326. 179424331 c.86528T>G p.L28843X nonsense 0.00000829●●●●●●
327. 179424036 c.86821+2T>A essential splice site 0.00000891●●●●●●
328. 179423146 c.87040C>T p.R29014X nonsense 0.00000835●●●●●●
329. 179422965 c.87119-3_87125delCAGAACCACC essential splice site 0.00000847●●●●●●
330. 179422843 c.87238delA p.Arg29080GlufsTer10 frameshift 0.00000830●●●●●●
331. 179422155 c.87834_87837delCAGA p.Asp29278GlufsTer122 frameshift 0.00000828●●●●●●
332. 179421990 c.87999dupT p.Asp29334Ter frameshift 0.00000831●●●●●●
333. 179419726 c.88460delT p.Val29487GlyfsTer27 frameshift 0.00000834●●●●●●
334. 179419347 c.88727delC p.Thr29576LysfsTer36 frameshift 0.00000828●●●●●●
335. 179417372 c.90255_90256delAT p.Cys30086Ter frameshift 0.00000829●●●●●●
336. 179416717 c.90910A>T p.R30304X nonsense 0.00000830●●●●●●
337. 179416530 c.91097_91100delGAAA p.Arg30366IlefsTer24 frameshift 0.00000829●●●●●●
338. 179415001 c.91565-1G>C essential splice site 0.00000856●●●●●●
339. 179414850 c.91715dupA p.Asn30572LysfsTer16 frameshift 0.00000828●●●●●●
340. 179414303 c.92146_92147delCA p.Gln30716IlefsTer5 frameshift 0.00000840●●●●●●
341. 179412544 c.93809_93810delGA p.Arg31270AsnfsTer12 frameshift 0.00000829●●●●●●
342. 179412505 c.93848_93849delCT p.Ser31283TrpfsTer14 frameshift 0.00000829●●●●●●
343. 179412250 c.94103_94107delTTAAA p.Thr31366fs frameshift 0.00000848●●●●●●
344. 179412186 c.94167delT p.F31389Lfs*7 frameshift 0.00000957●●●●●●
345. 179411199 c.94859T>G p.Leu31620Ter nonsense 0.00000840●●●●●●
346. 179409236 c.95723-3_95723-2delCA essential splice site 0.00000858●●●●●●
347. 179408003 c.96697C>T p.R32233X nonsense 0.00000828●●●●●●
348. 179407808 c.96892C>T p.Q32298X nonsense 0.00000879●●●●●●
349. 179407168 c.97315C>T p.Q32439X nonsense 0.00000834●●●●●●
350. 179405072 c.97821_97822delAA p.Arg32608SerfsTer3 frameshift 0.00000835●●●●●●
351. 179404493 c.98299_98300delAG p.Arg32767fs frameshift 0.00000829●●●●●●
352. 179404493 c.98299delA p.Arg32767GlyfsTer26 frameshift 0.00000829●●●●●●
353. 179404241 c.98551C>T p.Arg32851Ter nonsense 0.00001656●●●●●●
354. 179403949 c.98713G>T p.E32905X nonsense 0.00000830●●●●●●
355. 179402618 c.99316delG p.Glu33106LysfsTer2 frameshift 0.00000962●●●●●●
356. 179402568 c.99366_99367delCC p.Cys33122Ter frameshift 0.00000845●●●●●●
357. 179401950 c.99886G>T p.G33296X nonsense 0.00000865●●●●●●
358. 179401036 c.100438delG p.Glu33480LysfsTer23 frameshift 0.00000838●●●●●●
359. 179400577 c.100766-1G>T essential splice site 0.00001051●●●●●●
360. 179400235 c.101107C>T p.R33703X nonsense 0.00000829●●●●●●
361. 179399119 c.102223C>T p.Q34075X nonsense 0.00000829●●●●●●
362. 179399108 c.102234_102237delAAGA p.Arg34079SerfsTer9 frameshift 0.00000829●●●●●●
363. 179399072 c.102270_102271insAC p.Arg34091ThrfsTer8 frameshift 0.00000829●●●●●●
364. 179398819 c.102523C>T p.R34175X nonsense 0.00001656●●●●●●
365. 179397982 c.103360delG p.Glu34454AsnfsTer3 frameshift 0.00001657●●●●●●
366. 179397934 c.103408G>T p.E34470X nonsense 0.00000829●●●●●●
367. 179397931 c.103411C>T p.R34471X nonsense 0.00000829●●●●●●
368. 179397397 c.103945_103946insTTGGG p.Arg34649LeufsTer25 frameshift 0.00002486●●●●●●
369. 179397250 c.104092C>T p.R34698X nonsense 0.00000828●●●●●●
370. 179397158 c.104184T>G p.Y34728X nonsense 0.00000828●●●●●●
371. 179396943 c.104399delG p.Arg34800LysfsTer10 frameshift 0.00000833●●●●●●
372. 179396929 c.104413C>T p.R34805X nonsense 0.00000833●●●●●●
373. 179396802 c.104540_104541insATAT p.Tyr34847Ter frameshift 0.00000830●●●●●●
374. 179395538 c.105804_105805delGA p.Glu35268AspfsTer30 frameshift 0.00000829●●●●●●
375. 179395537 c.105805delA p.Thr35269GlnfsTer24 frameshift 0.00000829●●●●●●
376. 179395528 c.105814delA p.T35272Hfs*21 frameshift 0.00001659●●●●●●
377. 179395407 c.105935T>G p.L35312X nonsense 0.00001658●●●●●●
378. 179395318 c.106024delT p.Tyr35342MetfsTer63 frameshift 0.00000829●●●●●●
379. 179395282 c.106060C>T p.Q35354X nonsense 0.00000828●●●●●●
380. 179394967 c.106374+1delG essential splice site 0.00000848●●●●●●
381. 179394686 c.106531+1G>A essential splice site 0.00000829●●●●●●
382. 179393686 c.106792C>T p.Q35598X nonsense 0.00000829●●●●●●
383. 179393524 c.106954C>T p.Arg35652Ter nonsense 0.00001678●●●●●●
384. 179393519 c.106959T>A p.Y35653X nonsense 0.00000839●●●●●●
385. 179393329 c.107149C>T p.Q35717X nonsense 0.00000892●●●●●●
386. 179393027 c.107351delC p.S35784*fs*1 frameshift 0.00000829●●●●●●
387. 179393000 c.107377+1G>A essential splice site 0.00001661●●●●●●
388. 179392218 c.107635C>T p.Q35879X nonsense 0.00001657●●●●●●
389. 179391826 c.107889delA frameshift 0.00000832●●●●●●
390. 179391750 c.107965C>T p.R35989X nonsense 0.00000924●●●●●●

* 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.