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. 179621090 c.11113delA p.R3705Dfs*2 frameshift 0.00001660●●●●●●
65. 179444429 c.67495C>T p.R22499X nonsense 0.00001660●●●●●●
66. 179621404 c.10799C>A p.S3600X nonsense 0.00001660●●●●●●
67. 179621409 c.10794dupT p.Lys3599Ter frameshift 0.00001660●●●●●●
68. 179605373 c.12587C>A p.S4196X nonsense 0.00001659●●●●●●
69. 179581962 c.25499delG p.Gly8500AlafsTer5 frameshift 0.00001659●●●●●●
70. 179395528 c.105814delA p.T35272Hfs*21 frameshift 0.00001659●●●●●●
71. 179428619 c.82240C>T p.R27414X nonsense 0.00001658●●●●●●
72. 179395407 c.105935T>G p.L35312X nonsense 0.00001658●●●●●●
73. 179516907 c.39212-1G>T essential splice site 0.00001658●●●●●●
74. 179468762 c.54652C>T p.R18218X nonsense 0.00001657●●●●●●
75. 179397982 c.103360delG p.Glu34454AsnfsTer3 frameshift 0.00001657●●●●●●
76. 179392218 c.107635C>T p.Q35879X nonsense 0.00001657●●●●●●
77. 179404241 c.98551C>T p.Arg32851Ter nonsense 0.00001656●●●●●●
78. 179398819 c.102523C>T p.R34175X nonsense 0.00001656●●●●●●
79. 179568911 c.30186T>G p.Y10062X 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. 179579299 c.26202delA p.Pro8735HisfsTer5 frameshift 0.00000924●●●●●●
99. 179391750 c.107965C>T p.R35989X nonsense 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. 179589257 c.20845_20848delGTCA p.Val6949LeufsTer8 frameshift 0.00000879●●●●●●
114. 179528826 c.36281-1G>C essential splice site 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>C essential splice site 0.00000875●●●●●●
120. 179588582 c.21403+1G>A essential splice site 0.00000875●●●●●●
121. 179581820 c.25639+2T>G 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. 179529186 c.36280+1G>T essential splice site 0.00000871●●●●●●
125. 179469712 c.54190+2T>C 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. 179500887 c.41411T>G p.L13804X nonsense 0.00000866●●●●●●
130. 179469738 c.54166C>T p.R18056X 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. 179495077 c.44172dupA p.Glu14725ArgfsTer28 frameshift 0.00000862●●●●●●
134. 179528630 c.36365-1G>C essential splice site 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. 179647326 c.3104C>A p.S1035X nonsense 0.00000851●●●●●●
145. 179582111 c.25352-2A>G essential splice site 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. 179592036 c.20056C>T p.R6686X nonsense 0.00000848●●●●●●
152. 179647321 c.3109G>T p.E1037X nonsense 0.00000848●●●●●●
153. 179477907 c.49629delC p.Leu16544Ter frameshift 0.00000847●●●●●●
154. 179422965 c.87119-3_87125delCAGAACCACC essential splice site 0.00000847●●●●●●
155. 179593025 c.19526_19527insT p.Ile6510HisfsTer2 frameshift 0.00000847●●●●●●
156. 179665380 c.325C>T p.R109X nonsense 0.00000847●●●●●●
157. 179402568 c.99366_99367delCC p.Cys33122Ter frameshift 0.00000845●●●●●●
158. 179446377 c.66618C>A p.C22206X nonsense 0.00000845●●●●●●
159. 179586788 c.22602dupT p.Glu7535Ter frameshift 0.00000845●●●●●●
160. 179517767 c.38875+1G>T essential splice site 0.00000844●●●●●●
161. 179622330 c.10617C>A p.C3539X nonsense 0.00000844●●●●●●
162. 179489460 c.44549-2A>C essential splice site 0.00000844●●●●●●
163. 179477165 c.50087_50088insA p.Gly16697ArgfsTer21 frameshift 0.00000844●●●●●●
164. 179477164 c.50088delA p.Gly16697AlafsTer19 frameshift 0.00000844●●●●●●
165. 179517786 c.38857G>T p.E12953X nonsense 0.00000843●●●●●●
166. 179629539 c.9704-1G>T essential splice site 0.00000842●●●●●●
167. 179442177 c.68885_68888dupATAC p.Ile22964TyrfsTer8 frameshift 0.00000841●●●●●●
168. 179632884 c.9164-2A>T essential splice site 0.00000841●●●●●●
169. 179517804 c.38839delA p.Thr12947LeufsTer18 frameshift 0.00000841●●●●●●
170. 179439561 c.71298_71304delGCGGCAG p.Met23766IlefsTer10 frameshift 0.00000840●●●●●●
171. 179463232 c.57111+1G>A essential splice site 0.00000840●●●●●●
172. 179414303 c.92146_92147delCA p.Gln30716IlefsTer5 frameshift 0.00000840●●●●●●
173. 179411199 c.94859T>G p.Leu31620Ter nonsense 0.00000840●●●●●●
174. 179425292 c.85567_85570delTTTA p.Phe28523GlufsTer2 frameshift 0.00000840●●●●●●
175. 179479230 c.49011_49012delTG p.Cys16337TrpfsTer14 frameshift 0.00000840●●●●●●
176. 179458204 c.58733-2A>G essential splice site 0.00000840●●●●●●
177. 179494064 c.44388G>A p.W14796X nonsense 0.00000839●●●●●●
178. 179393519 c.106959T>A p.Y35653X nonsense 0.00000839●●●●●●
179. 179477120 c.50132_50133delCA p.Thr16711SerfsTer6 frameshift 0.00000839●●●●●●
180. 179494065 c.44387G>A p.W14796X nonsense 0.00000839●●●●●●
181. 179647298 c.3132_3133insCTTTGAAAAGAATTTGAAAAGGAAACCACA nonsense 0.00000839●●●●●●
182. 179517852 c.38792-1G>C essential splice site 0.00000839●●●●●●
183. 179425305 c.85554_85555insTTCC p.Asn28519PhefsTer3 frameshift 0.00000839●●●●●●
184. 179425324 c.85535_85539delTAACC p.Val28512GlufsTer7 frameshift 0.00000838●●●●●●
185. 179580345 c.25796C>A p.S8599X nonsense 0.00000838●●●●●●
186. 179401036 c.100438delG p.Glu33480LysfsTer23 frameshift 0.00000838●●●●●●
187. 179584974 c.23395A>T p.K7799X nonsense 0.00000838●●●●●●
188. 179583048 c.24784+1G>A essential splice site 0.00000838●●●●●●
189. 179481212 c.48306G>A p.W16102X nonsense 0.00000837●●●●●●
190. 179498342 c.42744delT p.Thr14249LeufsTer2 frameshift 0.00000837●●●●●●
191. 179482787 c.47291_47292delAT p.Asn15764SerfsTer5 frameshift 0.00000837●●●●●●
192. 179478975 c.49149dupC p.Thr16384HisfsTer11 frameshift 0.00000837●●●●●●
193. 179439501 c.71358T>G p.Y23786X nonsense 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. 179486369 c.45182delT p.Val15061GlyfsTer19 frameshift 0.00000835●●●●●●
201. 179474124 c.51913_51916delAAGG p.Lys17305ValfsTer13 frameshift 0.00000835●●●●●●
202. 179405072 c.97821_97822delAA p.Arg32608SerfsTer3 frameshift 0.00000835●●●●●●
203. 179586773 c.22617dupT p.Gly7540TrpfsTer13 frameshift 0.00000835●●●●●●
204. 179582669 c.25063+1G>A essential splice site 0.00000835●●●●●●
205. 179442714 c.68527+1G>C essential splice site 0.00000835●●●●●●
206. 179474816 c.51436+1G>A essential splice site 0.00000835●●●●●●
207. 179419726 c.88460delT p.Val29487GlyfsTer27 frameshift 0.00000834●●●●●●
208. 179549473 c.32558delC p.Pro10853GlnfsTer28 frameshift 0.00000834●●●●●●
209. 179554062 c.31966A>T p.K10656X nonsense 0.00000834●●●●●●
210. 179434205 c.76654C>T p.Arg25552Ter nonsense 0.00000834●●●●●●
211. 179407168 c.97315C>T p.Q32439X nonsense 0.00000834●●●●●●
212. 179429372 c.81487G>T p.Glu27163Ter nonsense 0.00000834●●●●●●
213. 179426604 c.84255C>A p.C28085X nonsense 0.00000834●●●●●●
214. 179481235 c.48283C>T p.R16095X nonsense 0.00000834●●●●●●
215. 179592387 c.19918_19919delAA p.Lys6640AspfsTer11 frameshift 0.00000834●●●●●●
216. 179454712 c.61740delT p.Asn20580LysfsTer2 frameshift 0.00000833●●●●●●
217. 179442914 c.68330-2A>G essential splice site 0.00000833●●●●●●
218. 179505267 c.40723+1G>T essential splice site 0.00000833●●●●●●
219. 179396929 c.104413C>T p.R34805X nonsense 0.00000833●●●●●●
220. 179426254 c.84605C>A p.S28202X nonsense 0.00000833●●●●●●
221. 179581883 c.25578C>A p.Y8526X nonsense 0.00000833●●●●●●
222. 179444577 c.67349-2A>C essential splice site 0.00000833●●●●●●
223. 179431565 c.79294C>T p.R26432X nonsense 0.00000833●●●●●●
224. 179577224 c.27425_27426insCCATTTC p.Val9143HisfsTer19 frameshift 0.00000833●●●●●●
225. 179495650 c.44035C>T p.R14679X nonsense 0.00000833●●●●●●
226. 179548810 c.32723-1G>C essential splice site 0.00000833●●●●●●
227. 179544064 c.33742+2T>C essential splice site 0.00000833●●●●●●
228. 179447252 c.65931G>A p.W21977X nonsense 0.00000833●●●●●●
229. 179593442 c.19211T>A p.L6404X nonsense 0.00000833●●●●●●
230. 179396943 c.104399delG p.Arg34800LysfsTer10 frameshift 0.00000833●●●●●●
231. 179443532 c.68224+1G>A essential splice site 0.00000832●●●●●●
232. 179515968 c.39625+2T>C essential splice site 0.00000832●●●●●●
233. 179458925 c.58195C>T p.R19399X nonsense 0.00000832●●●●●●
234. 179621351 c.10852C>T p.Q3618X nonsense 0.00000832●●●●●●
235. 179600392 c.14781_14782insA p.Leu4928ThrfsTer8 frameshift 0.00000832●●●●●●
236. 179457898 c.59035+2T>C essential splice site 0.00000832●●●●●●
237. 179485441 c.45895+1G>A essential splice site 0.00000832●●●●●●
238. 179425631 c.85228_85231delGACA p.Asp28410IlefsTer5 frameshift 0.00000832●●●●●●
239. 179574554 c.28492A>T p.R9498X nonsense 0.00000832●●●●●●
240. 179425592 c.85267C>T p.R28423X nonsense 0.00000832●●●●●●
241. 179598224 c.15796C>T p.R5266X nonsense 0.00000832●●●●●●
242. 179391826 c.107889delA frameshift 0.00000832●●●●●●
243. 179444665 c.67348+1G>A essential splice site 0.00000832●●●●●●
244. 179485441 c.45895+1G>T essential splice site 0.00000832●●●●●●
245. 179481455 c.48160+1G>C essential splice site 0.00000832●●●●●●
246. 179469843 c.54061delG p.Val18021TyrfsTer64 frameshift 0.00000832●●●●●●
247. 179568873 c.30223+1G>A essential splice site 0.00000831●●●●●●
248. 179421990 c.87999dupT p.Asp29334Ter frameshift 0.00000831●●●●●●
249. 179642027 c.4663A>T p.K1555X nonsense 0.00000831●●●●●●
250. 179501285 c.41169delT p.Ser13724AlafsTer52 frameshift 0.00000831●●●●●●
251. 179480446 c.48382_48383insT p.K16128Ifs*6 frameshift 0.00000831●●●●●●
252. 179482566 c.47512C>T p.R15838X nonsense 0.00000831●●●●●●
253. 179434932 c.75927delA p.Ala25310LeufsTer7 frameshift 0.00000831●●●●●●
254. 179499975 c.41941delA p.Ser13981ValfsTer19 frameshift 0.00000831●●●●●●
255. 179621184 c.11019_11020insTGGAATTGTATAATTTTCTCATGGCA p.Gly3674TrpfsTer19 frameshift 0.00000831●●●●●●
256. 179494977 c.44272C>T p.R14758X nonsense 0.00000831●●●●●●
257. 179600420 c.14753_14754delCA p.Thr4918SerfsTer17 frameshift 0.00000831●●●●●●
258. 179494967 c.44281+1G>A essential splice site 0.00000831●●●●●●
259. 179620982 c.11221_11222delAG p.Arg3741AspfsTer13 frameshift 0.00000831●●●●●●
260. 179457321 c.59411dupT p.Arg19805LysfsTer3 frameshift 0.00000831●●●●●●
261. 179514543 c.39895+1G>A essential splice site 0.00000831●●●●●●
262. 179586757 c.22633C>T p.R7545X nonsense 0.00000831●●●●●●
263. 179596031 c.17461+1G>T essential splice site 0.00000830●●●●●●
264. 179403949 c.98713G>T p.E32905X nonsense 0.00000830●●●●●●
265. 179453946 c.62506C>T p.R20836X nonsense 0.00000830●●●●●●
266. 179497414 c.43319G>A p.W14440X nonsense 0.00000830●●●●●●
267. 179621082 c.11121delA p.Lys3707AsnfsTer19 frameshift 0.00000830●●●●●●
268. 179599555 c.15096delT p.Phe5032LeufsTer13 frameshift 0.00000830●●●●●●
269. 179470279 c.53743C>T p.R17915X nonsense 0.00000830●●●●●●
270. 179641711 c.4880G>A p.W1627X nonsense 0.00000830●●●●●●
271. 179586645 c.22745_22746delCT p.Ser7582TrpfsTer10 frameshift 0.00000830●●●●●●
272. 179433366 c.77493G>A p.W25831X nonsense 0.00000830●●●●●●
273. 179622357 c.10590C>A p.Y3530X nonsense 0.00000830●●●●●●
274. 179604825 c.13135dupT p.Ser4379PhefsTer2 frameshift 0.00000830●●●●●●
275. 179638587 c.7308delC p.Ser2437ValfsTer11 frameshift 0.00000830●●●●●●
276. 179430143 c.80716C>T p.R26906X nonsense 0.00000830●●●●●●
277. 179587193 c.22321C>T p.R7441X nonsense 0.00000830●●●●●●
278. 179621119 c.11084_11085insA p.His3695GlnfsTer27 frameshift 0.00000830●●●●●●
279. 179474483 c.51667C>T p.R17223X nonsense 0.00000830●●●●●●
280. 179451276 c.64352T>A p.L21451X nonsense 0.00000830●●●●●●
281. 179605889 c.12071delC p.Ala4024GlufsTer12 frameshift 0.00000830●●●●●●
282. 179596031 c.17461+1G>C essential splice site 0.00000830●●●●●●
283. 179546397 c.33163_33164insAAAAC p.Pro11055GlnfsTer7 frameshift 0.00000830●●●●●●
284. 179622355 c.10592C>G p.S3531X nonsense 0.00000830●●●●●●
285. 179396802 c.104540_104541insATAT p.Tyr34847Ter frameshift 0.00000830●●●●●●
286. 179629006 c.10012C>T p.Q3338X nonsense 0.00000830●●●●●●
287. 179514544 c.39895G>T p.E13299X nonsense 0.00000830●●●●●●
288. 179544666 c.33535delG p.E11179Sfs*3 frameshift 0.00000830●●●●●●
289. 179482584 c.47494C>T p.R15832X nonsense 0.00000830●●●●●●
290. 179598068 c.15952delC p.Leu5318SerfsTer34 frameshift 0.00000830●●●●●●
291. 179416717 c.90910A>T p.R30304X nonsense 0.00000830●●●●●●
292. 179465659 c.55972C>T p.R18658X nonsense 0.00000830●●●●●●
293. 179435377 c.75482delA p.Lys25161ArgfsTer11 frameshift 0.00000830●●●●●●
294. 179499273 c.42235C>T p.R14079X nonsense 0.00000830●●●●●●
295. 179422843 c.87238delA p.Arg29080GlufsTer10 frameshift 0.00000830●●●●●●
296. 179647781 c.2852dupA p.Asn951LysfsTer8 frameshift 0.00000830●●●●●●
297. 179637835 c.7855+1G>A essential splice site 0.00000830●●●●●●
298. 179604274 c.13686delT p.Asp4563ThrfsTer8 frameshift 0.00000830●●●●●●
299. 179595728 c.17664delA p.Asp5889IlefsTer25 frameshift 0.00000829●●●●●●
300. 179399108 c.102234_102237delAAGA p.Arg34079SerfsTer9 frameshift 0.00000829●●●●●●
301. 179605317 c.12643C>T p.Q4215X nonsense 0.00000829●●●●●●
302. 179428494 c.82365delC p.Leu27456TrpfsTer32 frameshift 0.00000829●●●●●●
303. 179605602 c.12358C>T p.Q4120X nonsense 0.00000829●●●●●●
304. 179395538 c.105804_105805delGA p.Glu35268AspfsTer30 frameshift 0.00000829●●●●●●
305. 179553468 c.32133dupA p.Phe10712IlefsTer4 frameshift 0.00000829●●●●●●
306. 179394686 c.106531+1G>A essential splice site 0.00000829●●●●●●
307. 179404493 c.98299delA p.Arg32767GlyfsTer26 frameshift 0.00000829●●●●●●
308. 179594439 c.18541C>T p.R6181X nonsense 0.00000829●●●●●●
309. 179566974 c.30434-2A>G essential splice site 0.00000829●●●●●●
310. 179416530 c.91097_91100delGAAA p.Arg30366IlefsTer24 frameshift 0.00000829●●●●●●
311. 179412544 c.93809_93810delGA p.Arg31270AsnfsTer12 frameshift 0.00000829●●●●●●
312. 179397934 c.103408G>T p.E34470X nonsense 0.00000829●●●●●●
313. 179455726 c.60726T>A p.Y20242X nonsense 0.00000829●●●●●●
314. 179404493 c.98299_98300delAG p.Arg32767fs frameshift 0.00000829●●●●●●
315. 179424331 c.86528T>G p.L28843X nonsense 0.00000829●●●●●●
316. 179395537 c.105805delA p.Thr35269GlnfsTer24 frameshift 0.00000829●●●●●●
317. 179553474 c.32127_32131delAAAGA p.Lys10710IlefsTer4 frameshift 0.00000829●●●●●●
318. 179400235 c.101107C>T p.R33703X nonsense 0.00000829●●●●●●
319. 179435736 c.75123T>A p.Y25041X nonsense 0.00000829●●●●●●
320. 179622379 c.10568T>G p.L3523X nonsense 0.00000829●●●●●●
321. 179595829 c.17563A>T p.K5855X nonsense 0.00000829●●●●●●
322. 179604264 c.13696C>T p.Q4566X nonsense 0.00000829●●●●●●
323. 179428916 c.81943G>T p.E27315X nonsense 0.00000829●●●●●●
324. 179417372 c.90255_90256delAT p.Cys30086Ter frameshift 0.00000829●●●●●●
325. 179474603 c.51547_51548delAT p.Ile17183HisfsTer6 frameshift 0.00000829●●●●●●
326. 179393686 c.106792C>T p.Q35598X nonsense 0.00000829●●●●●●
327. 179621013 c.11190C>G p.Y3730X nonsense 0.00000829●●●●●●
328. 179430450 c.80409delA p.Lys26803AsnfsTer41 frameshift 0.00000829●●●●●●
329. 179397931 c.103411C>T p.R34471X nonsense 0.00000829●●●●●●
330. 179604255 c.13705_13706delAG p.Leu4570GlufsTer12 frameshift 0.00000829●●●●●●
331. 179393027 c.107351delC p.S35784*fs*1 frameshift 0.00000829●●●●●●
332. 179544979 c.33418+2T>A essential splice site 0.00000829●●●●●●
333. 179439161 c.71698delC p.Arg23900GlyfsTer2 frameshift 0.00000829●●●●●●
334. 179425795 c.85064delC p.Pro28355GlnfsTer4 frameshift 0.00000829●●●●●●
335. 179582014 c.25447delG p.Ala8483HisfsTer22 frameshift 0.00000829●●●●●●
336. 179399119 c.102223C>T p.Q34075X nonsense 0.00000829●●●●●●
337. 179569677 c.29621_29624delAGAG p.Glu9874GlyfsTer28 frameshift 0.00000829●●●●●●
338. 179399072 c.102270_102271insAC p.Arg34091ThrfsTer8 frameshift 0.00000829●●●●●●
339. 179566315 c.30539-1G>A essential splice site 0.00000829●●●●●●
340. 179395318 c.106024delT p.Tyr35342MetfsTer63 frameshift 0.00000829●●●●●●
341. 179622431 c.10516delC p.Leu3506TyrfsTer6 frameshift 0.00000829●●●●●●
342. 179664638 c.584-1G>T essential splice site 0.00000829●●●●●●
343. 179432669 c.78190A>T p.R26064X nonsense 0.00000829●●●●●●
344. 179412505 c.93848_93849delCT p.Ser31283TrpfsTer14 frameshift 0.00000829●●●●●●
345. 179431248 c.79611delT p.Thr26538LeufsTer6 frameshift 0.00000828●●●●●●
346. 179457645 c.59201_59202delCT p.Pro19734ArgfsTer5 frameshift 0.00000828●●●●●●
347. 179569006 c.30091C>T p.Q10031X nonsense 0.00000828●●●●●●
348. 179650794 c.2151delC p.Arg718GlufsTer29 frameshift 0.00000828●●●●●●
349. 179595759 c.17633_17634insT p.Ile5879AsnfsTer12 frameshift 0.00000828●●●●●●
350. 179431248 c.79611_79612insGAAG p.Thr26538GlufsTer13 frameshift 0.00000828●●●●●●
351. 179428848 c.82011dupA p.Asp27338ArgfsTer6 frameshift 0.00000828●●●●●●
352. 179571356 c.29245C>T p.Q9749X nonsense 0.00000828●●●●●●
353. 179642630 c.4281delG p.Met1427IlefsTer35 frameshift 0.00000828●●●●●●
354. 179408003 c.96697C>T p.R32233X nonsense 0.00000828●●●●●●
355. 179422155 c.87834_87837delCAGA p.Asp29278GlufsTer122 frameshift 0.00000828●●●●●●
356. 179397158 c.104184T>G p.Y34728X nonsense 0.00000828●●●●●●
357. 179414850 c.91715dupA p.Asn30572LysfsTer16 frameshift 0.00000828●●●●●●
358. 179574466 c.28580G>A p.W9527X nonsense 0.00000828●●●●●●
359. 179639656 c.6782_6783delTT p.Ile2261SerfsTer2 frameshift 0.00000828●●●●●●
360. 179419347 c.88727delC p.Thr29576LysfsTer36 frameshift 0.00000828●●●●●●
361. 179552886 c.32263_32264dupGA p.Glu10756LysfsTer17 frameshift 0.00000828●●●●●●
362. 179395282 c.106060C>T p.Q35354X nonsense 0.00000828●●●●●●
363. 179568928 c.30169C>T p.Q10057X nonsense 0.00000828●●●●●●
364. 179577103 c.27546C>A p.Y9182X nonsense 0.00000828●●●●●●
365. 179397250 c.104092C>T p.R34698X nonsense 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. 179644726 c.3729+1G>A essential splice site 0.00000826●●●●●●
370. 179664563 c.658C>T p.R220X nonsense 0.00000826●●●●●●
371. 179644806 c.3650_3651delAG p.Glu1217ValfsTer2 frameshift 0.00000825●●●●●●
372. 179658269 c.1399-1G>C essential splice site 0.00000825●●●●●●
373. 179636006 c.8048T>A p.L2683X nonsense 0.00000825●●●●●●
374. 179638933 c.7057+1G>A essential splice site 0.00000825●●●●●●
375. 179623709 c.10303+2T>C essential splice site 0.00000825●●●●●●
376. 179638267 c.7516C>T p.R2506X nonsense 0.00000825●●●●●●
377. 179641524 c.5067G>A p.W1689X nonsense 0.00000825●●●●●●
378. 179638282 c.7501C>T p.R2501X nonsense 0.00000825●●●●●●
379. 179631234 c.9577C>T p.R3193X nonsense 0.00000824●●●●●●
380. 179655503 c.1732dupG p.Glu578GlyfsTer22 frameshift 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. 179654710 c.1933G>T p.E645X nonsense 0.00000824●●●●●●
385. 179655518 c.1717_1718delAA p.Lys573ValfsTer26 frameshift 0.00000824●●●●●●
386. 179654704 c.1938+1G>T essential splice site 0.00000824●●●●●●
387. 179664340 c.788C>A p.S263X nonsense 0.00000824●●●●●●
388. 179640969 c.5622G>A p.W1874X 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.