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. 179407808 c.96892C>T p.Q32298X nonsense 0.00000879●●●●●●
114. 179528826 c.36281-1G>C essential splice site 0.00000879●●●●●●
115. 179589257 c.20845_20848delGTCA p.Val6949LeufsTer8 frameshift 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. 179588582 c.21403+1G>A essential splice site 0.00000875●●●●●●
120. 179581820 c.25639+2T>G essential splice site 0.00000875●●●●●●
121. 179581820 c.25639+2T>C 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. 179528438 c.36449-1G>C essential splice site 0.00000852●●●●●●
143. 179518019 c.38737G>T p.E12913X nonsense 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. 179665380 c.325C>T p.R109X nonsense 0.00000847●●●●●●
154. 179422965 c.87119-3_87125delCAGAACCACC essential splice site 0.00000847●●●●●●
155. 179593025 c.19526_19527insT p.Ile6510HisfsTer2 frameshift 0.00000847●●●●●●
156. 179477907 c.49629delC p.Leu16544Ter frameshift 0.00000847●●●●●●
157. 179446377 c.66618C>A p.C22206X nonsense 0.00000845●●●●●●
158. 179586788 c.22602dupT p.Glu7535Ter frameshift 0.00000845●●●●●●
159. 179402568 c.99366_99367delCC p.Cys33122Ter frameshift 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. 179414303 c.92146_92147delCA p.Gln30716IlefsTer5 frameshift 0.00000840●●●●●●
171. 179439561 c.71298_71304delGCGGCAG p.Met23766IlefsTer10 frameshift 0.00000840●●●●●●
172. 179479230 c.49011_49012delTG p.Cys16337TrpfsTer14 frameshift 0.00000840●●●●●●
173. 179458204 c.58733-2A>G essential splice site 0.00000840●●●●●●
174. 179425292 c.85567_85570delTTTA p.Phe28523GlufsTer2 frameshift 0.00000840●●●●●●
175. 179463232 c.57111+1G>A essential splice site 0.00000840●●●●●●
176. 179411199 c.94859T>G p.Leu31620Ter nonsense 0.00000840●●●●●●
177. 179477120 c.50132_50133delCA p.Thr16711SerfsTer6 frameshift 0.00000839●●●●●●
178. 179425305 c.85554_85555insTTCC p.Asn28519PhefsTer3 frameshift 0.00000839●●●●●●
179. 179517852 c.38792-1G>C essential splice site 0.00000839●●●●●●
180. 179393519 c.106959T>A p.Y35653X nonsense 0.00000839●●●●●●
181. 179494064 c.44388G>A p.W14796X nonsense 0.00000839●●●●●●
182. 179647298 c.3132_3133insCTTTGAAAAGAATTTGAAAAGGAAACCACA nonsense 0.00000839●●●●●●
183. 179494065 c.44387G>A p.W14796X nonsense 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. 179474124 c.51913_51916delAAGG p.Lys17305ValfsTer13 frameshift 0.00000835●●●●●●
199. 179423146 c.87040C>T p.R29014X nonsense 0.00000835●●●●●●
200. 179437659 c.73200delT p.Tyr24400Ter frameshift 0.00000835●●●●●●
201. 179474816 c.51436+1G>A essential splice site 0.00000835●●●●●●
202. 179405072 c.97821_97822delAA p.Arg32608SerfsTer3 frameshift 0.00000835●●●●●●
203. 179582669 c.25063+1G>A essential splice site 0.00000835●●●●●●
204. 179586773 c.22617dupT p.Gly7540TrpfsTer13 frameshift 0.00000835●●●●●●
205. 179442714 c.68527+1G>C essential splice site 0.00000835●●●●●●
206. 179486369 c.45182delT p.Val15061GlyfsTer19 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. 179593442 c.19211T>A p.L6404X nonsense 0.00000833●●●●●●
217. 179548810 c.32723-1G>C essential splice site 0.00000833●●●●●●
218. 179544064 c.33742+2T>C essential splice site 0.00000833●●●●●●
219. 179454712 c.61740delT p.Asn20580LysfsTer2 frameshift 0.00000833●●●●●●
220. 179495650 c.44035C>T p.R14679X nonsense 0.00000833●●●●●●
221. 179442914 c.68330-2A>G essential splice site 0.00000833●●●●●●
222. 179447252 c.65931G>A p.W21977X nonsense 0.00000833●●●●●●
223. 179426254 c.84605C>A p.S28202X nonsense 0.00000833●●●●●●
224. 179431565 c.79294C>T p.R26432X nonsense 0.00000833●●●●●●
225. 179581883 c.25578C>A p.Y8526X nonsense 0.00000833●●●●●●
226. 179505267 c.40723+1G>T essential splice site 0.00000833●●●●●●
227. 179444577 c.67349-2A>C essential splice site 0.00000833●●●●●●
228. 179396929 c.104413C>T p.R34805X nonsense 0.00000833●●●●●●
229. 179396943 c.104399delG p.Arg34800LysfsTer10 frameshift 0.00000833●●●●●●
230. 179577224 c.27425_27426insCCATTTC p.Val9143HisfsTer19 frameshift 0.00000833●●●●●●
231. 179515968 c.39625+2T>C essential splice site 0.00000832●●●●●●
232. 179444665 c.67348+1G>A essential splice site 0.00000832●●●●●●
233. 179457898 c.59035+2T>C essential splice site 0.00000832●●●●●●
234. 179485441 c.45895+1G>A essential splice site 0.00000832●●●●●●
235. 179598224 c.15796C>T p.R5266X nonsense 0.00000832●●●●●●
236. 179443532 c.68224+1G>A essential splice site 0.00000832●●●●●●
237. 179391826 c.107889delA frameshift 0.00000832●●●●●●
238. 179600392 c.14781_14782insA p.Leu4928ThrfsTer8 frameshift 0.00000832●●●●●●
239. 179485441 c.45895+1G>T essential splice site 0.00000832●●●●●●
240. 179481455 c.48160+1G>C essential splice site 0.00000832●●●●●●
241. 179425631 c.85228_85231delGACA p.Asp28410IlefsTer5 frameshift 0.00000832●●●●●●
242. 179458925 c.58195C>T p.R19399X nonsense 0.00000832●●●●●●
243. 179469843 c.54061delG p.Val18021TyrfsTer64 frameshift 0.00000832●●●●●●
244. 179621351 c.10852C>T p.Q3618X nonsense 0.00000832●●●●●●
245. 179574554 c.28492A>T p.R9498X nonsense 0.00000832●●●●●●
246. 179425592 c.85267C>T p.R28423X nonsense 0.00000832●●●●●●
247. 179586757 c.22633C>T p.R7545X nonsense 0.00000831●●●●●●
248. 179620982 c.11221_11222delAG p.Arg3741AspfsTer13 frameshift 0.00000831●●●●●●
249. 179501285 c.41169delT p.Ser13724AlafsTer52 frameshift 0.00000831●●●●●●
250. 179494977 c.44272C>T p.R14758X nonsense 0.00000831●●●●●●
251. 179499975 c.41941delA p.Ser13981ValfsTer19 frameshift 0.00000831●●●●●●
252. 179642027 c.4663A>T p.K1555X nonsense 0.00000831●●●●●●
253. 179494967 c.44281+1G>A essential splice site 0.00000831●●●●●●
254. 179421990 c.87999dupT p.Asp29334Ter frameshift 0.00000831●●●●●●
255. 179514543 c.39895+1G>A essential splice site 0.00000831●●●●●●
256. 179457321 c.59411dupT p.Arg19805LysfsTer3 frameshift 0.00000831●●●●●●
257. 179434932 c.75927delA p.Ala25310LeufsTer7 frameshift 0.00000831●●●●●●
258. 179480446 c.48382_48383insT p.K16128Ifs*6 frameshift 0.00000831●●●●●●
259. 179621184 c.11019_11020insTGGAATTGTATAATTTTCTCATGGCA p.Gly3674TrpfsTer19 frameshift 0.00000831●●●●●●
260. 179482566 c.47512C>T p.R15838X nonsense 0.00000831●●●●●●
261. 179568873 c.30223+1G>A essential splice site 0.00000831●●●●●●
262. 179600420 c.14753_14754delCA p.Thr4918SerfsTer17 frameshift 0.00000831●●●●●●
263. 179433366 c.77493G>A p.W25831X nonsense 0.00000830●●●●●●
264. 179647781 c.2852dupA p.Asn951LysfsTer8 frameshift 0.00000830●●●●●●
265. 179416717 c.90910A>T p.R30304X nonsense 0.00000830●●●●●●
266. 179637835 c.7855+1G>A essential splice site 0.00000830●●●●●●
267. 179435377 c.75482delA p.Lys25161ArgfsTer11 frameshift 0.00000830●●●●●●
268. 179641711 c.4880G>A p.W1627X nonsense 0.00000830●●●●●●
269. 179598068 c.15952delC p.Leu5318SerfsTer34 frameshift 0.00000830●●●●●●
270. 179422843 c.87238delA p.Arg29080GlufsTer10 frameshift 0.00000830●●●●●●
271. 179544666 c.33535delG p.E11179Sfs*3 frameshift 0.00000830●●●●●●
272. 179622357 c.10590C>A p.Y3530X nonsense 0.00000830●●●●●●
273. 179430143 c.80716C>T p.R26906X nonsense 0.00000830●●●●●●
274. 179403949 c.98713G>T p.E32905X nonsense 0.00000830●●●●●●
275. 179604274 c.13686delT p.Asp4563ThrfsTer8 frameshift 0.00000830●●●●●●
276. 179596031 c.17461+1G>T essential splice site 0.00000830●●●●●●
277. 179465659 c.55972C>T p.R18658X nonsense 0.00000830●●●●●●
278. 179638587 c.7308delC p.Ser2437ValfsTer11 frameshift 0.00000830●●●●●●
279. 179514544 c.39895G>T p.E13299X nonsense 0.00000830●●●●●●
280. 179621082 c.11121delA p.Lys3707AsnfsTer19 frameshift 0.00000830●●●●●●
281. 179599555 c.15096delT p.Phe5032LeufsTer13 frameshift 0.00000830●●●●●●
282. 179482584 c.47494C>T p.R15832X nonsense 0.00000830●●●●●●
283. 179453946 c.62506C>T p.R20836X nonsense 0.00000830●●●●●●
284. 179586645 c.22745_22746delCT p.Ser7582TrpfsTer10 frameshift 0.00000830●●●●●●
285. 179587193 c.22321C>T p.R7441X nonsense 0.00000830●●●●●●
286. 179497414 c.43319G>A p.W14440X nonsense 0.00000830●●●●●●
287. 179499273 c.42235C>T p.R14079X nonsense 0.00000830●●●●●●
288. 179604825 c.13135dupT p.Ser4379PhefsTer2 frameshift 0.00000830●●●●●●
289. 179470279 c.53743C>T p.R17915X nonsense 0.00000830●●●●●●
290. 179396802 c.104540_104541insATAT p.Tyr34847Ter frameshift 0.00000830●●●●●●
291. 179621119 c.11084_11085insA p.His3695GlnfsTer27 frameshift 0.00000830●●●●●●
292. 179629006 c.10012C>T p.Q3338X nonsense 0.00000830●●●●●●
293. 179622355 c.10592C>G p.S3531X nonsense 0.00000830●●●●●●
294. 179605889 c.12071delC p.Ala4024GlufsTer12 frameshift 0.00000830●●●●●●
295. 179474483 c.51667C>T p.R17223X nonsense 0.00000830●●●●●●
296. 179596031 c.17461+1G>C essential splice site 0.00000830●●●●●●
297. 179546397 c.33163_33164insAAAAC p.Pro11055GlnfsTer7 frameshift 0.00000830●●●●●●
298. 179451276 c.64352T>A p.L21451X nonsense 0.00000830●●●●●●
299. 179393027 c.107351delC p.S35784*fs*1 frameshift 0.00000829●●●●●●
300. 179582014 c.25447delG p.Ala8483HisfsTer22 frameshift 0.00000829●●●●●●
301. 179569677 c.29621_29624delAGAG p.Glu9874GlyfsTer28 frameshift 0.00000829●●●●●●
302. 179566315 c.30539-1G>A essential splice site 0.00000829●●●●●●
303. 179395538 c.105804_105805delGA p.Glu35268AspfsTer30 frameshift 0.00000829●●●●●●
304. 179455726 c.60726T>A p.Y20242X nonsense 0.00000829●●●●●●
305. 179394686 c.106531+1G>A essential splice site 0.00000829●●●●●●
306. 179605602 c.12358C>T p.Q4120X nonsense 0.00000829●●●●●●
307. 179621013 c.11190C>G p.Y3730X nonsense 0.00000829●●●●●●
308. 179412505 c.93848_93849delCT p.Ser31283TrpfsTer14 frameshift 0.00000829●●●●●●
309. 179399108 c.102234_102237delAAGA p.Arg34079SerfsTer9 frameshift 0.00000829●●●●●●
310. 179604264 c.13696C>T p.Q4566X nonsense 0.00000829●●●●●●
311. 179399119 c.102223C>T p.Q34075X nonsense 0.00000829●●●●●●
312. 179595728 c.17664delA p.Asp5889IlefsTer25 frameshift 0.00000829●●●●●●
313. 179428494 c.82365delC p.Leu27456TrpfsTer32 frameshift 0.00000829●●●●●●
314. 179474603 c.51547_51548delAT p.Ile17183HisfsTer6 frameshift 0.00000829●●●●●●
315. 179594439 c.18541C>T p.R6181X nonsense 0.00000829●●●●●●
316. 179435736 c.75123T>A p.Y25041X nonsense 0.00000829●●●●●●
317. 179404493 c.98299delA p.Arg32767GlyfsTer26 frameshift 0.00000829●●●●●●
318. 179395537 c.105805delA p.Thr35269GlnfsTer24 frameshift 0.00000829●●●●●●
319. 179553468 c.32133dupA p.Phe10712IlefsTer4 frameshift 0.00000829●●●●●●
320. 179622379 c.10568T>G p.L3523X nonsense 0.00000829●●●●●●
321. 179412544 c.93809_93810delGA p.Arg31270AsnfsTer12 frameshift 0.00000829●●●●●●
322. 179416530 c.91097_91100delGAAA p.Arg30366IlefsTer24 frameshift 0.00000829●●●●●●
323. 179566974 c.30434-2A>G essential splice site 0.00000829●●●●●●
324. 179404493 c.98299_98300delAG p.Arg32767fs frameshift 0.00000829●●●●●●
325. 179595829 c.17563A>T p.K5855X nonsense 0.00000829●●●●●●
326. 179424331 c.86528T>G p.L28843X nonsense 0.00000829●●●●●●
327. 179605317 c.12643C>T p.Q4215X nonsense 0.00000829●●●●●●
328. 179400235 c.101107C>T p.R33703X nonsense 0.00000829●●●●●●
329. 179397934 c.103408G>T p.E34470X nonsense 0.00000829●●●●●●
330. 179553474 c.32127_32131delAAAGA p.Lys10710IlefsTer4 frameshift 0.00000829●●●●●●
331. 179417372 c.90255_90256delAT p.Cys30086Ter frameshift 0.00000829●●●●●●
332. 179432669 c.78190A>T p.R26064X nonsense 0.00000829●●●●●●
333. 179399072 c.102270_102271insAC p.Arg34091ThrfsTer8 frameshift 0.00000829●●●●●●
334. 179397931 c.103411C>T p.R34471X nonsense 0.00000829●●●●●●
335. 179395318 c.106024delT p.Tyr35342MetfsTer63 frameshift 0.00000829●●●●●●
336. 179430450 c.80409delA p.Lys26803AsnfsTer41 frameshift 0.00000829●●●●●●
337. 179622431 c.10516delC p.Leu3506TyrfsTer6 frameshift 0.00000829●●●●●●
338. 179428916 c.81943G>T p.E27315X nonsense 0.00000829●●●●●●
339. 179393686 c.106792C>T p.Q35598X nonsense 0.00000829●●●●●●
340. 179604255 c.13705_13706delAG p.Leu4570GlufsTer12 frameshift 0.00000829●●●●●●
341. 179439161 c.71698delC p.Arg23900GlyfsTer2 frameshift 0.00000829●●●●●●
342. 179544979 c.33418+2T>A essential splice site 0.00000829●●●●●●
343. 179425795 c.85064delC p.Pro28355GlnfsTer4 frameshift 0.00000829●●●●●●
344. 179664638 c.584-1G>T essential splice site 0.00000829●●●●●●
345. 179419347 c.88727delC p.Thr29576LysfsTer36 frameshift 0.00000828●●●●●●
346. 179571356 c.29245C>T p.Q9749X nonsense 0.00000828●●●●●●
347. 179577103 c.27546C>A p.Y9182X nonsense 0.00000828●●●●●●
348. 179397158 c.104184T>G p.Y34728X nonsense 0.00000828●●●●●●
349. 179552886 c.32263_32264dupGA p.Glu10756LysfsTer17 frameshift 0.00000828●●●●●●
350. 179395282 c.106060C>T p.Q35354X nonsense 0.00000828●●●●●●
351. 179431248 c.79611delT p.Thr26538LeufsTer6 frameshift 0.00000828●●●●●●
352. 179650794 c.2151delC p.Arg718GlufsTer29 frameshift 0.00000828●●●●●●
353. 179574466 c.28580G>A p.W9527X nonsense 0.00000828●●●●●●
354. 179397250 c.104092C>T p.R34698X nonsense 0.00000828●●●●●●
355. 179568928 c.30169C>T p.Q10057X nonsense 0.00000828●●●●●●
356. 179428848 c.82011dupA p.Asp27338ArgfsTer6 frameshift 0.00000828●●●●●●
357. 179595759 c.17633_17634insT p.Ile5879AsnfsTer12 frameshift 0.00000828●●●●●●
358. 179431248 c.79611_79612insGAAG p.Thr26538GlufsTer13 frameshift 0.00000828●●●●●●
359. 179642630 c.4281delG p.Met1427IlefsTer35 frameshift 0.00000828●●●●●●
360. 179569006 c.30091C>T p.Q10031X nonsense 0.00000828●●●●●●
361. 179408003 c.96697C>T p.R32233X nonsense 0.00000828●●●●●●
362. 179422155 c.87834_87837delCAGA p.Asp29278GlufsTer122 frameshift 0.00000828●●●●●●
363. 179639656 c.6782_6783delTT p.Ile2261SerfsTer2 frameshift 0.00000828●●●●●●
364. 179414850 c.91715dupA p.Asn30572LysfsTer16 frameshift 0.00000828●●●●●●
365. 179457645 c.59201_59202delCT p.Pro19734ArgfsTer5 frameshift 0.00000828●●●●●●
366. 179639143 c.6848C>A p.S2283X nonsense 0.00000827●●●●●●
367. 179659980 c.915-1G>A essential splice site 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. 179644806 c.3650_3651delAG p.Glu1217ValfsTer2 frameshift 0.00000825●●●●●●
372. 179641524 c.5067G>A p.W1689X nonsense 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. 179650594 c.2351delG p.Gly784GlufsTer14 frameshift 0.00000824●●●●●●
380. 179655503 c.1732dupG p.Glu578GlyfsTer22 frameshift 0.00000824●●●●●●
381. 179654710 c.1933G>T p.E645X nonsense 0.00000824●●●●●●
382. 179666886 c.274dupA p.Thr92AsnfsTer3 frameshift 0.00000824●●●●●●
383. 179648873 c.2699dupA p.Glu901GlyfsTer13 frameshift 0.00000824●●●●●●
384. 179642430 c.4480+1G>A essential splice site 0.00000824●●●●●●
385. 179655518 c.1717_1718delAA p.Lys573ValfsTer26 frameshift 0.00000824●●●●●●
386. 179664340 c.788C>A p.S263X nonsense 0.00000824●●●●●●
387. 179654704 c.1938+1G>T essential splice site 0.00000824●●●●●●
388. 179640969 c.5622G>A p.W1874X nonsense 0.00000824●●●●●●
389. 179658212 c.1455dupA p.Ala486SerfsTer26 frameshift 0.00000824●●●●●●
390. 179631234 c.9577C>T p.R3193X nonsense 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.