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