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. 179544784 c.33419-2A>C essential splice site 0.00001669●●●●●●
60. 179587926 c.21808delA p.Ile7270Ter frameshift 0.00001669●●●●●●
61. 179500348 c.41703delT p.Pro13902GlnfsTer23 frameshift 0.00001667●●●●●●
62. 179393000 c.107377+1G>A essential splice site 0.00001661●●●●●●
63. 179589169 c.20933_20934delCT p.Ser6978CysfsTer2 frameshift 0.00001661●●●●●●
64. 179444429 c.67495C>T p.R22499X nonsense 0.00001660●●●●●●
65. 179621404 c.10799C>A p.S3600X nonsense 0.00001660●●●●●●
66. 179621090 c.11113delA p.R3705Dfs*2 frameshift 0.00001660●●●●●●
67. 179621409 c.10794dupT p.Lys3599Ter frameshift 0.00001660●●●●●●
68. 179605373 c.12587C>A p.S4196X nonsense 0.00001659●●●●●●
69. 179395528 c.105814delA p.T35272Hfs*21 frameshift 0.00001659●●●●●●
70. 179581962 c.25499delG p.Gly8500AlafsTer5 frameshift 0.00001659●●●●●●
71. 179395407 c.105935T>G p.L35312X nonsense 0.00001658●●●●●●
72. 179428619 c.82240C>T p.R27414X nonsense 0.00001658●●●●●●
73. 179516907 c.39212-1G>T essential splice site 0.00001658●●●●●●
74. 179392218 c.107635C>T p.Q35879X nonsense 0.00001657●●●●●●
75. 179468762 c.54652C>T p.R18218X nonsense 0.00001657●●●●●●
76. 179397982 c.103360delG p.Glu34454AsnfsTer3 frameshift 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. 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. 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>C essential splice site 0.00000862●●●●●●
133. 179495077 c.44172dupA p.Glu14725ArgfsTer28 frameshift 0.00000862●●●●●●
134. 179528630 c.36365-1G>A essential splice site 0.00000862●●●●●●
135. 179409236 c.95723-3_95723-2delCA essential splice site 0.00000858●●●●●●
136. 179596419 c.17182+1G>A essential splice site 0.00000858●●●●●●
137. 179517586 c.38948_38951delCTCC p.Pro12983LeufsTer94 frameshift 0.00000857●●●●●●
138. 179546137 c.33213delC p.Ile11072PhefsTer36 frameshift 0.00000857●●●●●●
139. 179415001 c.91565-1G>C essential splice site 0.00000856●●●●●●
140. 179588342 c.21485delG p.Gly7162GlufsTer16 frameshift 0.00000855●●●●●●
141. 179593652 c.19113delA p.Val6372LeufsTer9 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. 179447021 c.66160+2T>C essential splice site 0.00000850●●●●●●
147. 179604017 c.13943_13947dupAAAAG p.Phe4650LysfsTer14 frameshift 0.00000850●●●●●●
148. 179517964 c.38791+1G>A essential splice site 0.00000849●●●●●●
149. 179412250 c.94103_94107delTTAAA p.Thr31366fs frameshift 0.00000848●●●●●●
150. 179592036 c.20056C>T p.R6686X nonsense 0.00000848●●●●●●
151. 179647321 c.3109G>T p.E1037X nonsense 0.00000848●●●●●●
152. 179394967 c.106374+1delG essential splice site 0.00000848●●●●●●
153. 179665380 c.325C>T p.R109X nonsense 0.00000847●●●●●●
154. 179422965 c.87119-3_87125delCAGAACCACC essential splice site 0.00000847●●●●●●
155. 179477907 c.49629delC p.Leu16544Ter frameshift 0.00000847●●●●●●
156. 179593025 c.19526_19527insT p.Ile6510HisfsTer2 frameshift 0.00000847●●●●●●
157. 179446377 c.66618C>A p.C22206X nonsense 0.00000845●●●●●●
158. 179402568 c.99366_99367delCC p.Cys33122Ter frameshift 0.00000845●●●●●●
159. 179586788 c.22602dupT p.Glu7535Ter frameshift 0.00000845●●●●●●
160. 179622330 c.10617C>A p.C3539X nonsense 0.00000844●●●●●●
161. 179477165 c.50087_50088insA p.Gly16697ArgfsTer21 frameshift 0.00000844●●●●●●
162. 179477164 c.50088delA p.Gly16697AlafsTer19 frameshift 0.00000844●●●●●●
163. 179489460 c.44549-2A>C essential splice site 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. 179442177 c.68885_68888dupATAC p.Ile22964TyrfsTer8 frameshift 0.00000841●●●●●●
168. 179517804 c.38839delA p.Thr12947LeufsTer18 frameshift 0.00000841●●●●●●
169. 179632884 c.9164-2A>T essential splice site 0.00000841●●●●●●
170. 179411199 c.94859T>G p.Leu31620Ter nonsense 0.00000840●●●●●●
171. 179414303 c.92146_92147delCA p.Gln30716IlefsTer5 frameshift 0.00000840●●●●●●
172. 179425292 c.85567_85570delTTTA p.Phe28523GlufsTer2 frameshift 0.00000840●●●●●●
173. 179439561 c.71298_71304delGCGGCAG p.Met23766IlefsTer10 frameshift 0.00000840●●●●●●
174. 179458204 c.58733-2A>G essential splice site 0.00000840●●●●●●
175. 179463232 c.57111+1G>A essential splice site 0.00000840●●●●●●
176. 179479230 c.49011_49012delTG p.Cys16337TrpfsTer14 frameshift 0.00000840●●●●●●
177. 179393519 c.106959T>A p.Y35653X nonsense 0.00000839●●●●●●
178. 179494064 c.44388G>A p.W14796X nonsense 0.00000839●●●●●●
179. 179494065 c.44387G>A p.W14796X nonsense 0.00000839●●●●●●
180. 179425305 c.85554_85555insTTCC p.Asn28519PhefsTer3 frameshift 0.00000839●●●●●●
181. 179477120 c.50132_50133delCA p.Thr16711SerfsTer6 frameshift 0.00000839●●●●●●
182. 179517852 c.38792-1G>C essential splice site 0.00000839●●●●●●
183. 179647298 c.3132_3133insCTTTGAAAAGAATTTGAAAAGGAAACCACA nonsense 0.00000839●●●●●●
184. 179580345 c.25796C>A p.S8599X nonsense 0.00000838●●●●●●
185. 179584974 c.23395A>T p.K7799X nonsense 0.00000838●●●●●●
186. 179401036 c.100438delG p.Glu33480LysfsTer23 frameshift 0.00000838●●●●●●
187. 179425324 c.85535_85539delTAACC p.Val28512GlufsTer7 frameshift 0.00000838●●●●●●
188. 179583048 c.24784+1G>A essential splice site 0.00000838●●●●●●
189. 179439501 c.71358T>G p.Y23786X nonsense 0.00000837●●●●●●
190. 179481212 c.48306G>A p.W16102X nonsense 0.00000837●●●●●●
191. 179478975 c.49149dupC p.Thr16384HisfsTer11 frameshift 0.00000837●●●●●●
192. 179482787 c.47291_47292delAT p.Asn15764SerfsTer5 frameshift 0.00000837●●●●●●
193. 179498342 c.42744delT p.Thr14249LeufsTer2 frameshift 0.00000837●●●●●●
194. 179452435 c.63601C>T p.R21201X nonsense 0.00000836●●●●●●
195. 179444957 c.67058-1G>A essential splice site 0.00000836●●●●●●
196. 179537132 c.34930+2T>C essential splice site 0.00000836●●●●●●
197. 179645991 c.3381-1G>T essential splice site 0.00000836●●●●●●
198. 179423146 c.87040C>T p.R29014X nonsense 0.00000835●●●●●●
199. 179405072 c.97821_97822delAA p.Arg32608SerfsTer3 frameshift 0.00000835●●●●●●
200. 179437659 c.73200delT p.Tyr24400Ter frameshift 0.00000835●●●●●●
201. 179442714 c.68527+1G>C essential splice site 0.00000835●●●●●●
202. 179474124 c.51913_51916delAAGG p.Lys17305ValfsTer13 frameshift 0.00000835●●●●●●
203. 179474816 c.51436+1G>A essential splice site 0.00000835●●●●●●
204. 179486369 c.45182delT p.Val15061GlyfsTer19 frameshift 0.00000835●●●●●●
205. 179582669 c.25063+1G>A essential splice site 0.00000835●●●●●●
206. 179586773 c.22617dupT p.Gly7540TrpfsTer13 frameshift 0.00000835●●●●●●
207. 179481235 c.48283C>T p.R16095X nonsense 0.00000834●●●●●●
208. 179554062 c.31966A>T p.K10656X nonsense 0.00000834●●●●●●
209. 179429372 c.81487G>T p.Glu27163Ter nonsense 0.00000834●●●●●●
210. 179434205 c.76654C>T p.Arg25552Ter nonsense 0.00000834●●●●●●
211. 179407168 c.97315C>T p.Q32439X nonsense 0.00000834●●●●●●
212. 179426604 c.84255C>A p.C28085X nonsense 0.00000834●●●●●●
213. 179419726 c.88460delT p.Val29487GlyfsTer27 frameshift 0.00000834●●●●●●
214. 179549473 c.32558delC p.Pro10853GlnfsTer28 frameshift 0.00000834●●●●●●
215. 179592387 c.19918_19919delAA p.Lys6640AspfsTer11 frameshift 0.00000834●●●●●●
216. 179505267 c.40723+1G>T essential splice site 0.00000833●●●●●●
217. 179396929 c.104413C>T p.R34805X nonsense 0.00000833●●●●●●
218. 179426254 c.84605C>A p.S28202X nonsense 0.00000833●●●●●●
219. 179431565 c.79294C>T p.R26432X nonsense 0.00000833●●●●●●
220. 179447252 c.65931G>A p.W21977X nonsense 0.00000833●●●●●●
221. 179495650 c.44035C>T p.R14679X nonsense 0.00000833●●●●●●
222. 179581883 c.25578C>A p.Y8526X nonsense 0.00000833●●●●●●
223. 179593442 c.19211T>A p.L6404X nonsense 0.00000833●●●●●●
224. 179396943 c.104399delG p.Arg34800LysfsTer10 frameshift 0.00000833●●●●●●
225. 179442914 c.68330-2A>G essential splice site 0.00000833●●●●●●
226. 179444577 c.67349-2A>C essential splice site 0.00000833●●●●●●
227. 179454712 c.61740delT p.Asn20580LysfsTer2 frameshift 0.00000833●●●●●●
228. 179544064 c.33742+2T>C essential splice site 0.00000833●●●●●●
229. 179548810 c.32723-1G>C essential splice site 0.00000833●●●●●●
230. 179577224 c.27425_27426insCCATTTC p.Val9143HisfsTer19 frameshift 0.00000833●●●●●●
231. 179391826 c.107889delA frameshift 0.00000832●●●●●●
232. 179598224 c.15796C>T p.R5266X nonsense 0.00000832●●●●●●
233. 179621351 c.10852C>T p.Q3618X nonsense 0.00000832●●●●●●
234. 179425592 c.85267C>T p.R28423X nonsense 0.00000832●●●●●●
235. 179458925 c.58195C>T p.R19399X nonsense 0.00000832●●●●●●
236. 179574554 c.28492A>T p.R9498X nonsense 0.00000832●●●●●●
237. 179425631 c.85228_85231delGACA p.Asp28410IlefsTer5 frameshift 0.00000832●●●●●●
238. 179443532 c.68224+1G>A essential splice site 0.00000832●●●●●●
239. 179444665 c.67348+1G>A essential splice site 0.00000832●●●●●●
240. 179457898 c.59035+2T>C essential splice site 0.00000832●●●●●●
241. 179469843 c.54061delG p.Val18021TyrfsTer64 frameshift 0.00000832●●●●●●
242. 179481455 c.48160+1G>C essential splice site 0.00000832●●●●●●
243. 179485441 c.45895+1G>A essential splice site 0.00000832●●●●●●
244. 179485441 c.45895+1G>T essential splice site 0.00000832●●●●●●
245. 179515968 c.39625+2T>C essential splice site 0.00000832●●●●●●
246. 179600392 c.14781_14782insA p.Leu4928ThrfsTer8 frameshift 0.00000832●●●●●●
247. 179494977 c.44272C>T p.R14758X nonsense 0.00000831●●●●●●
248. 179480446 c.48382_48383insT p.K16128Ifs*6 frameshift 0.00000831●●●●●●
249. 179568873 c.30223+1G>A essential splice site 0.00000831●●●●●●
250. 179482566 c.47512C>T p.R15838X nonsense 0.00000831●●●●●●
251. 179586757 c.22633C>T p.R7545X nonsense 0.00000831●●●●●●
252. 179642027 c.4663A>T p.K1555X nonsense 0.00000831●●●●●●
253. 179421990 c.87999dupT p.Asp29334Ter frameshift 0.00000831●●●●●●
254. 179434932 c.75927delA p.Ala25310LeufsTer7 frameshift 0.00000831●●●●●●
255. 179457321 c.59411dupT p.Arg19805LysfsTer3 frameshift 0.00000831●●●●●●
256. 179494967 c.44281+1G>A essential splice site 0.00000831●●●●●●
257. 179499975 c.41941delA p.Ser13981ValfsTer19 frameshift 0.00000831●●●●●●
258. 179501285 c.41169delT p.Ser13724AlafsTer52 frameshift 0.00000831●●●●●●
259. 179514543 c.39895+1G>A essential splice site 0.00000831●●●●●●
260. 179600420 c.14753_14754delCA p.Thr4918SerfsTer17 frameshift 0.00000831●●●●●●
261. 179620982 c.11221_11222delAG p.Arg3741AspfsTer13 frameshift 0.00000831●●●●●●
262. 179621184 c.11019_11020insTGGAATTGTATAATTTTCTCATGGCA p.Gly3674TrpfsTer19 frameshift 0.00000831●●●●●●
263. 179497414 c.43319G>A p.W14440X nonsense 0.00000830●●●●●●
264. 179544666 c.33535delG p.E11179Sfs*3 frameshift 0.00000830●●●●●●
265. 179403949 c.98713G>T p.E32905X nonsense 0.00000830●●●●●●
266. 179416717 c.90910A>T p.R30304X nonsense 0.00000830●●●●●●
267. 179430143 c.80716C>T p.R26906X nonsense 0.00000830●●●●●●
268. 179433366 c.77493G>A p.W25831X nonsense 0.00000830●●●●●●
269. 179451276 c.64352T>A p.L21451X nonsense 0.00000830●●●●●●
270. 179453946 c.62506C>T p.R20836X nonsense 0.00000830●●●●●●
271. 179465659 c.55972C>T p.R18658X nonsense 0.00000830●●●●●●
272. 179470279 c.53743C>T p.R17915X nonsense 0.00000830●●●●●●
273. 179474483 c.51667C>T p.R17223X nonsense 0.00000830●●●●●●
274. 179482584 c.47494C>T p.R15832X nonsense 0.00000830●●●●●●
275. 179499273 c.42235C>T p.R14079X nonsense 0.00000830●●●●●●
276. 179514544 c.39895G>T p.E13299X nonsense 0.00000830●●●●●●
277. 179587193 c.22321C>T p.R7441X nonsense 0.00000830●●●●●●
278. 179622355 c.10592C>G p.S3531X nonsense 0.00000830●●●●●●
279. 179622357 c.10590C>A p.Y3530X nonsense 0.00000830●●●●●●
280. 179629006 c.10012C>T p.Q3338X nonsense 0.00000830●●●●●●
281. 179641711 c.4880G>A p.W1627X nonsense 0.00000830●●●●●●
282. 179396802 c.104540_104541insATAT p.Tyr34847Ter frameshift 0.00000830●●●●●●
283. 179422843 c.87238delA p.Arg29080GlufsTer10 frameshift 0.00000830●●●●●●
284. 179435377 c.75482delA p.Lys25161ArgfsTer11 frameshift 0.00000830●●●●●●
285. 179546397 c.33163_33164insAAAAC p.Pro11055GlnfsTer7 frameshift 0.00000830●●●●●●
286. 179586645 c.22745_22746delCT p.Ser7582TrpfsTer10 frameshift 0.00000830●●●●●●
287. 179596031 c.17461+1G>C essential splice site 0.00000830●●●●●●
288. 179596031 c.17461+1G>T essential splice site 0.00000830●●●●●●
289. 179598068 c.15952delC p.Leu5318SerfsTer34 frameshift 0.00000830●●●●●●
290. 179599555 c.15096delT p.Phe5032LeufsTer13 frameshift 0.00000830●●●●●●
291. 179604274 c.13686delT p.Asp4563ThrfsTer8 frameshift 0.00000830●●●●●●
292. 179604825 c.13135dupT p.Ser4379PhefsTer2 frameshift 0.00000830●●●●●●
293. 179605889 c.12071delC p.Ala4024GlufsTer12 frameshift 0.00000830●●●●●●
294. 179621082 c.11121delA p.Lys3707AsnfsTer19 frameshift 0.00000830●●●●●●
295. 179621119 c.11084_11085insA p.His3695GlnfsTer27 frameshift 0.00000830●●●●●●
296. 179637835 c.7855+1G>A essential splice site 0.00000830●●●●●●
297. 179638587 c.7308delC p.Ser2437ValfsTer11 frameshift 0.00000830●●●●●●
298. 179647781 c.2852dupA p.Asn951LysfsTer8 frameshift 0.00000830●●●●●●
299. 179455726 c.60726T>A p.Y20242X nonsense 0.00000829●●●●●●
300. 179604264 c.13696C>T p.Q4566X nonsense 0.00000829●●●●●●
301. 179404493 c.98299_98300delAG p.Arg32767fs frameshift 0.00000829●●●●●●
302. 179397931 c.103411C>T p.R34471X nonsense 0.00000829●●●●●●
303. 179428916 c.81943G>T p.E27315X nonsense 0.00000829●●●●●●
304. 179605317 c.12643C>T p.Q4215X nonsense 0.00000829●●●●●●
305. 179621013 c.11190C>G p.Y3730X nonsense 0.00000829●●●●●●
306. 179393027 c.107351delC p.S35784*fs*1 frameshift 0.00000829●●●●●●
307. 179393686 c.106792C>T p.Q35598X nonsense 0.00000829●●●●●●
308. 179397934 c.103408G>T p.E34470X nonsense 0.00000829●●●●●●
309. 179399119 c.102223C>T p.Q34075X nonsense 0.00000829●●●●●●
310. 179400235 c.101107C>T p.R33703X nonsense 0.00000829●●●●●●
311. 179424331 c.86528T>G p.L28843X nonsense 0.00000829●●●●●●
312. 179432669 c.78190A>T p.R26064X nonsense 0.00000829●●●●●●
313. 179435736 c.75123T>A p.Y25041X nonsense 0.00000829●●●●●●
314. 179594439 c.18541C>T p.R6181X nonsense 0.00000829●●●●●●
315. 179595829 c.17563A>T p.K5855X nonsense 0.00000829●●●●●●
316. 179605602 c.12358C>T p.Q4120X nonsense 0.00000829●●●●●●
317. 179622379 c.10568T>G p.L3523X nonsense 0.00000829●●●●●●
318. 179394686 c.106531+1G>A essential splice site 0.00000829●●●●●●
319. 179395318 c.106024delT p.Tyr35342MetfsTer63 frameshift 0.00000829●●●●●●
320. 179395538 c.105804_105805delGA p.Glu35268AspfsTer30 frameshift 0.00000829●●●●●●
321. 179395537 c.105805delA p.Thr35269GlnfsTer24 frameshift 0.00000829●●●●●●
322. 179399072 c.102270_102271insAC p.Arg34091ThrfsTer8 frameshift 0.00000829●●●●●●
323. 179399108 c.102234_102237delAAGA p.Arg34079SerfsTer9 frameshift 0.00000829●●●●●●
324. 179404493 c.98299delA p.Arg32767GlyfsTer26 frameshift 0.00000829●●●●●●
325. 179412505 c.93848_93849delCT p.Ser31283TrpfsTer14 frameshift 0.00000829●●●●●●
326. 179412544 c.93809_93810delGA p.Arg31270AsnfsTer12 frameshift 0.00000829●●●●●●
327. 179416530 c.91097_91100delGAAA p.Arg30366IlefsTer24 frameshift 0.00000829●●●●●●
328. 179417372 c.90255_90256delAT p.Cys30086Ter frameshift 0.00000829●●●●●●
329. 179425795 c.85064delC p.Pro28355GlnfsTer4 frameshift 0.00000829●●●●●●
330. 179428494 c.82365delC p.Leu27456TrpfsTer32 frameshift 0.00000829●●●●●●
331. 179430450 c.80409delA p.Lys26803AsnfsTer41 frameshift 0.00000829●●●●●●
332. 179439161 c.71698delC p.Arg23900GlyfsTer2 frameshift 0.00000829●●●●●●
333. 179474603 c.51547_51548delAT p.Ile17183HisfsTer6 frameshift 0.00000829●●●●●●
334. 179544979 c.33418+2T>A essential splice site 0.00000829●●●●●●
335. 179553468 c.32133dupA p.Phe10712IlefsTer4 frameshift 0.00000829●●●●●●
336. 179553474 c.32127_32131delAAAGA p.Lys10710IlefsTer4 frameshift 0.00000829●●●●●●
337. 179566315 c.30539-1G>A essential splice site 0.00000829●●●●●●
338. 179566974 c.30434-2A>G essential splice site 0.00000829●●●●●●
339. 179569677 c.29621_29624delAGAG p.Glu9874GlyfsTer28 frameshift 0.00000829●●●●●●
340. 179582014 c.25447delG p.Ala8483HisfsTer22 frameshift 0.00000829●●●●●●
341. 179595728 c.17664delA p.Asp5889IlefsTer25 frameshift 0.00000829●●●●●●
342. 179604255 c.13705_13706delAG p.Leu4570GlufsTer12 frameshift 0.00000829●●●●●●
343. 179622431 c.10516delC p.Leu3506TyrfsTer6 frameshift 0.00000829●●●●●●
344. 179664638 c.584-1G>T essential splice site 0.00000829●●●●●●
345. 179395282 c.106060C>T p.Q35354X nonsense 0.00000828●●●●●●
346. 179397158 c.104184T>G p.Y34728X nonsense 0.00000828●●●●●●
347. 179397250 c.104092C>T p.R34698X nonsense 0.00000828●●●●●●
348. 179408003 c.96697C>T p.R32233X nonsense 0.00000828●●●●●●
349. 179568928 c.30169C>T p.Q10057X nonsense 0.00000828●●●●●●
350. 179569006 c.30091C>T p.Q10031X nonsense 0.00000828●●●●●●
351. 179571356 c.29245C>T p.Q9749X nonsense 0.00000828●●●●●●
352. 179574466 c.28580G>A p.W9527X nonsense 0.00000828●●●●●●
353. 179577103 c.27546C>A p.Y9182X nonsense 0.00000828●●●●●●
354. 179414850 c.91715dupA p.Asn30572LysfsTer16 frameshift 0.00000828●●●●●●
355. 179419347 c.88727delC p.Thr29576LysfsTer36 frameshift 0.00000828●●●●●●
356. 179422155 c.87834_87837delCAGA p.Asp29278GlufsTer122 frameshift 0.00000828●●●●●●
357. 179428848 c.82011dupA p.Asp27338ArgfsTer6 frameshift 0.00000828●●●●●●
358. 179431248 c.79611delT p.Thr26538LeufsTer6 frameshift 0.00000828●●●●●●
359. 179431248 c.79611_79612insGAAG p.Thr26538GlufsTer13 frameshift 0.00000828●●●●●●
360. 179457645 c.59201_59202delCT p.Pro19734ArgfsTer5 frameshift 0.00000828●●●●●●
361. 179552886 c.32263_32264dupGA p.Glu10756LysfsTer17 frameshift 0.00000828●●●●●●
362. 179595759 c.17633_17634insT p.Ile5879AsnfsTer12 frameshift 0.00000828●●●●●●
363. 179639656 c.6782_6783delTT p.Ile2261SerfsTer2 frameshift 0.00000828●●●●●●
364. 179642630 c.4281delG p.Met1427IlefsTer35 frameshift 0.00000828●●●●●●
365. 179650794 c.2151delC p.Arg718GlufsTer29 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. 179623709 c.10303+2T>C essential splice site 0.00000825●●●●●●
372. 179641524 c.5067G>A p.W1689X nonsense 0.00000825●●●●●●
373. 179636006 c.8048T>A p.L2683X nonsense 0.00000825●●●●●●
374. 179638267 c.7516C>T p.R2506X nonsense 0.00000825●●●●●●
375. 179638282 c.7501C>T p.R2501X nonsense 0.00000825●●●●●●
376. 179638933 c.7057+1G>A essential splice site 0.00000825●●●●●●
377. 179644806 c.3650_3651delAG p.Glu1217ValfsTer2 frameshift 0.00000825●●●●●●
378. 179658269 c.1399-1G>C essential splice site 0.00000825●●●●●●
379. 179631234 c.9577C>T p.R3193X nonsense 0.00000824●●●●●●
380. 179640969 c.5622G>A p.W1874X nonsense 0.00000824●●●●●●
381. 179654710 c.1933G>T p.E645X nonsense 0.00000824●●●●●●
382. 179664340 c.788C>A p.S263X nonsense 0.00000824●●●●●●
383. 179642430 c.4480+1G>A essential splice site 0.00000824●●●●●●
384. 179648873 c.2699dupA p.Glu901GlyfsTer13 frameshift 0.00000824●●●●●●
385. 179650594 c.2351delG p.Gly784GlufsTer14 frameshift 0.00000824●●●●●●
386. 179654704 c.1938+1G>T essential splice site 0.00000824●●●●●●
387. 179655503 c.1732dupG p.Glu578GlyfsTer22 frameshift 0.00000824●●●●●●
388. 179655518 c.1717_1718delAA p.Lys573ValfsTer26 frameshift 0.00000824●●●●●●
389. 179658212 c.1455dupA p.Ala486SerfsTer26 frameshift 0.00000824●●●●●●
390. 179666886 c.274dupA p.Thr92AsnfsTer3 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.