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