VCL variants in ExAC

VCL gene summary
VCL variants in DCM

The table below lists the VCL 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. 75842257 c.829C>A p.L277M missense 0.00004126●●●●●●
2. 75860740 c.1907A>G p.H636R missense 0.00149155●●●●●●
3. 75871722 c.2801C>T p.A934V missense 0.01213420●●●●●●
4. 75871748 c.2827C>G p.P943A missense 0.00018125●●●●●●
5. 75877895 c.3373C>T p.R1125C missense 0.00002473●●●●●●
6. 75802856 c.184G>A p.V62I missense 0.00000827●●●●●●
7. 75832553 c.565G>T p.V189L missense 0.00004119●●●●●●
8. 75834503 c.625A>T p.M209L missense 0.00002506●●●●●●
9. 75834566 c.688C>T p.R230C missense 0.00006598●●●●●●
10. 75842215 c.787A>T p.T263S missense 0.00006613●●●●●●
11. 75842216 c.788C>G p.T263S missense 0.00002480●●●●●●
12. 75842291 c.863G>C p.S288T missense 0.00000826●●●●●●
13. 75843196 c.947A>C p.K316T missense 0.00000824●●●●●●
14. 75848971 c.1040C>T p.P347L missense 0.00004169●●●●●●
15. 75849841 c.1237G>A p.A413T missense 0.00023890●●●●●●
16. 75849857 c.1253T>C p.I418T missense 0.00000824●●●●●●
17. 75849891 c.1287T>A p.D429E missense 0.00002471●●●●●●
18. 75849898 c.1294C>G p.L432V missense 0.00014827●●●●●●
19. 75849901 c.1297C>T p.R433C missense 0.00009885●●●●●●
20. 75854079 c.1403C>T p.T468M missense 0.00008265●●●●●●
21. 75855425 c.1555A>C p.I519L missense 0.00071702●●●●●●
22. 75857062 c.1844C>T p.A615V missense 0.00002475●●●●●●
23. 75860761 c.1928C>T p.T643M missense 0.00004994●●●●●●
24. 75864859 c.2182G>A p.E728K missense 0.00001655●●●●●●
25. 75865072 c.2395A>G p.M799V missense 0.00000826●●●●●●
26. 75867025 c.2472C>G p.I824M missense 0.00014835●●●●●●
27. 75867074 c.2521G>C p.D841H missense 0.00099002●●●●●●
28. 75867084 c.2531C>T p.P844L missense 0.00007427●●●●●●
29. 75871844 c.2923C>T p.R975W missense 0.00013183●●●●●●
30. 75873961 c.2969C>T p.A990V missense 0.00041266●●●●●●
31. 75877789 c.3267G>C p.E1089D missense 0.00002472●●●●●●
32. 75832578 c.590C>T p.T197I missense 0.00023067●●●●●●
33. 75856983 c.1765G>A p.E589K missense 0.00000824●●●●●●
34. 75849088 c.1157A>G p.K386R missense 0.00075891●●●●●●
35. 75849796 c.1192C>T p.P398S missense 0.00007416●●●●●●
36. 75849802 c.1198G>T p.G400C missense 0.00003296●●●●●●
37. 75854066 c.1390A>G p.K464E missense 0.00006611●●●●●●
38. 75854181 c.1505G>A p.R502Q missense 0.00008514●●●●●●
39. 75855477 c.1607C>A p.P536H missense 0.00012361●●●●●●
40. 75871826 c.2905G>A p.A969T missense 0.00001648●●●●●●
41. 75830746 c.404T>C p.I135T missense 0.00057810●●●●●●
42. 75830814 c.472G>T p.V158F missense 0.00002474●●●●●●
43. 75830824 c.482C>T p.T161I missense 0.00000825●●●●●●
44. 75843268 c.1019C>T p.A340V missense 0.00004192●●●●●●
45. 75854111 c.1435C>T p.R479W missense 0.00000828●●●●●●
46. 75855476 c.1606C>A p.P536T missense 0.00004120●●●●●●
47. 75855491 c.1621C>G p.L541V missense 0.00009066●●●●●●
48. 75855560 c.1690G>T p.G564W missense 0.00000825●●●●●●
49. 75857079 c.1861A>G p.N621D missense 0.00000826●●●●●●
50. 75863590 c.2035G>T p.A679S missense 0.00000824●●●●●●
51. 75864950 c.2273G>C p.R758P missense 0.00000824●●●●●●
52. 75866997 c.2444A>G p.K815R missense 0.00001648●●●●●●
53. 75867092 c.2539C>T p.P847S missense 0.00000826●●●●●●
54. 75868897 c.2728C>G p.R910G missense 0.00000826●●●●●●
55. 75871707 c.2786C>T p.A929V missense 0.00000825●●●●●●
56. 75871746 c.2825C>A p.P942H missense 0.00000824●●●●●●
57. 75871773 c.2852C>G p.P951R missense 0.00000824●●●●●●
58. 75864918 c.2241G>C p.Q747H missense 0.00000825●●●●●●
59. 75871803 c.2882C>A p.P961Q missense 0.00002471●●●●●●
60. 75860806 c.1973T>C p.V658A missense 0.00046783●●●●●●
61. 75871796 c.2875A>C p.N959H missense 0.00000824●●●●●●
62. 75802896 c.224C>T p.P75L missense 0.00001650●●●●●●
63. 75849799 c.1195A>C p.N399H missense 0.00005768●●●●●●
64. 75854211 c.1535G>A p.R512H missense 0.00003732●●●●●●
65. 75758095 c.130G>A p.V44M missense 0.00004500●●●●●●
66. 75832515 c.527A>G p.D176G missense 0.00000824●●●●●●
67. 75843255 c.1006G>A p.A336T missense 0.00002493●●●●●●
68. 75848970 c.1039C>T p.P347S missense 0.00000834●●●●●●
69. 75849046 c.1115G>T p.R372L missense 0.00002477●●●●●●
70. 75854166 c.1490T>C p.I497T missense 0.00004192●●●●●●
71. 75855445 c.1575A>C p.E525D missense 0.00045320●●●●●●
72. 75855483 c.1613G>A p.R538Q missense 0.00001648●●●●●●
73. 75855490 c.1620T>G p.D540E missense 0.00000824●●●●●●
74. 75855591 c.1721C>T p.S574F missense 0.00009094●●●●●●
75. 75864982 c.2305A>G p.R769G missense 0.00000824●●●●●●
76. 75865048 c.2371A>C p.S791R missense 0.00000825●●●●●●
77. 75865109 c.2432C>G p.P811R missense 0.00000829●●●●●●
78. 75868799 c.2630C>T p.P877L missense 0.00002472●●●●●●
79. 75871719 c.2798C>T p.A933V missense 0.00003298●●●●●●
80. 75871827 c.2906C>T p.A969V missense 0.00002472●●●●●●
81. 75757985 c.20G>T p.R7L missense 0.00001007●●●●●●
82. 75757997 c.32G>A p.S11N missense 0.00008135●●●●●●
83. 75757999 c.34A>G p.I12V missense 0.00001016●●●●●●
84. 75758032 c.67C>A p.L23M missense 0.00002375●●●●●●
85. 75758123 c.158A>G p.N53S missense 0.00006433●●●●●●
86. 75802857 c.185T>C p.V62A missense 0.00000827●●●●●●
87. 75802869 c.197A>G p.E66G missense 0.00000826●●●●●●
88. 75802891 c.219T>A p.D73E missense 0.00000825●●●●●●
89. 75802910 c.238A>C p.K80Q missense 0.00001651●●●●●●
90. 75830460 c.272C>A p.A91E missense 0.00000824●●●●●●
91. 75830470 c.282G>A p.M94I missense 0.00001647●●●●●●
92. 75830754 c.412T>G p.C138G missense 0.00000825●●●●●●
93. 75830797 c.455A>G p.E152G missense 0.00000824●●●●●●
94. 75832492 c.504G>A p.M168I missense 0.00000824●●●●●●
95. 75832496 c.508A>G p.K170E missense 0.00000824●●●●●●
96. 75832499 c.511A>G p.M171V missense 0.00001648●●●●●●
97. 75832536 c.548C>T p.T183I missense 0.00000824●●●●●●
98. 75832551 c.563G>A p.R188Q missense 0.00001648●●●●●●
99. 75832553 c.565G>C p.V189L missense 0.00000824●●●●●●
100. 75832573 c.585G>A p.M195I missense 0.00000824●●●●●●
101. 75832580 c.592G>T p.V198L missense 0.00000824●●●●●●
102. 75832580 c.592G>A p.V198M missense 0.00000824●●●●●●
103. 75834503 c.625A>G p.M209V missense 0.00001671●●●●●●
104. 75834513 c.635T>C p.F212S missense 0.00000832●●●●●●
105. 75834519 c.641C>T p.T214I missense 0.00001662●●●●●●
106. 75834567 c.689G>A p.R230H missense 0.00002474●●●●●●
107. 75834579 c.701T>C p.V234A missense 0.00000824●●●●●●
108. 75834582 c.704A>G p.E235G missense 0.00000824●●●●●●
109. 75834597 c.719A>C p.E240A missense 0.00000824●●●●●●
110. 75834624 c.746A>G p.Q249R missense 0.00000824●●●●●●
111. 75842234 c.806C>G p.A269G missense 0.00001651●●●●●●
112. 75842237 c.809T>C p.L270S missense 0.00000825●●●●●●
113. 75842240 c.812C>T p.A271V missense 0.00000825●●●●●●
114. 75842245 c.817A>C p.I273L missense 0.00000825●●●●●●
115. 75842246 c.818T>C p.I273T missense 0.00000825●●●●●●
116. 75842251 c.823T>G p.S275A missense 0.00002475●●●●●●
117. 75842255 c.827A>G p.K276R missense 0.00000825●●●●●●
118. 75842272 c.844G>T p.G282C missense 0.00000825●●●●●●
119. 75842281 c.853C>T p.R285C missense 0.00001651●●●●●●
120. 75843124 c.875G>A p.G292E missense 0.00000824●●●●●●
121. 75843137 c.888G>T p.E296D missense 0.00000824●●●●●●
122. 75843172 c.923A>T p.K308I missense 0.00000824●●●●●●
123. 75843177 c.928G>A p.G310S missense 0.00000824●●●●●●
124. 75843190 c.941C>A p.A314E missense 0.00001648●●●●●●
125. 75843198 c.949G>C p.E317Q missense 0.00000824●●●●●●
126. 75843201 c.952C>T p.R318C missense 0.00002472●●●●●●
127. 75843217 c.968G>A p.G323E missense 0.00000824●●●●●●
128. 75843256 c.1007C>T p.A336V missense 0.00000831●●●●●●
129. 75843264 c.1015C>T p.R339C missense 0.00002508●●●●●●
130. 75848961 c.1030G>A p.G344R missense 0.00000835●●●●●●
131. 75848962 c.1031G>C p.G344A missense 0.00003338●●●●●●
132. 75848976 c.1045G>A p.A349T missense 0.00000833●●●●●●
133. 75848977 c.1046C>T p.A349V missense 0.00001665●●●●●●
134. 75848980 c.1049T>C p.M350T missense 0.00000832●●●●●●
135. 75848981 c.1050G>A p.M350I missense 0.00009152●●●●●●
136. 75849045 c.1114C>T p.R372C missense 0.00001652●●●●●●
137. 75849052 c.1121T>C p.L374P missense 0.00000825●●●●●●
138. 75849064 c.1133C>T p.T378I missense 0.00004125●●●●●●
139. 75849799 c.1195A>G p.N399D missense 0.00000824●●●●●●
140. 75849809 c.1205C>T p.P402L missense 0.00000824●●●●●●
141. 75849829 c.1225C>G p.R409G missense 0.00000824●●●●●●
142. 75849850 c.1246C>T p.R416W missense 0.00001648●●●●●●
143. 75849851 c.1247G>A p.R416Q missense 0.00001648●●●●●●
144. 75849862 c.1258G>A p.E420K missense 0.00000824●●●●●●
145. 75849872 c.1268A>G p.D423G missense 0.00001647●●●●●●
146. 75849896 c.1292T>G p.I431S missense 0.00000824●●●●●●
147. 75849902 c.1298G>A p.R433H missense 0.00000824●●●●●●
148. 75849905 c.1301C>A p.S434Y missense 0.00000824●●●●●●
149. 75849913 c.1309G>A p.E437K missense 0.00000824●●●●●●
150. 75849916 c.1312A>T p.I438L missense 0.00000824●●●●●●
151. 75849938 c.1334T>C p.L445S missense 0.00000824●●●●●●
152. 75849950 c.1346G>T p.R449L missense 0.00000824●●●●●●
153. 75854031 c.1355G>T p.G452V missense 0.00000826●●●●●●
154. 75854052 c.1376C>G p.A459G missense 0.00004131●●●●●●
155. 75854070 c.1394A>C p.Q465P missense 0.00002480●●●●●●
156. 75854078 c.1402A>G p.T468A missense 0.00001653●●●●●●
157. 75854100 c.1424C>A p.T475N missense 0.00001654●●●●●●
158. 75854103 c.1427A>G p.K476R missense 0.00000827●●●●●●
159. 75854109 c.1433A>G p.N478S missense 0.00002483●●●●●●
160. 75854152 c.1476C>G p.H492Q missense 0.00001668●●●●●●
161. 75854178 c.1502A>G p.Q501R missense 0.00000849●●●●●●
162. 75854180 c.1504C>T p.R502W missense 0.00000851●●●●●●
163. 75854187 c.1511T>C p.I504T missense 0.00006017●●●●●●
164. 75854210 c.1534C>T p.R512C missense 0.00003697●●●●●●
165. 75854211 c.1535G>T p.R512L missense 0.00000933●●●●●●
166. 75855429 c.1559G>T p.R520L missense 0.00000824●●●●●●
167. 75855453 c.1583G>A p.R528H missense 0.00001648●●●●●●
168. 75855467 c.1597A>G p.M533V missense 0.00000824●●●●●●
169. 75855469 c.1599G>C p.M533I missense 0.00000824●●●●●●
170. 75855476 c.1606C>T p.P536S missense 0.00000824●●●●●●
171. 75855495 c.1625T>C p.L542P missense 0.00000824●●●●●●
172. 75855497 c.1627G>A p.A543T missense 0.00003297●●●●●●
173. 75855497 c.1627G>T p.A543S missense 0.00000824●●●●●●
174. 75855510 c.1640G>A p.R547Q missense 0.00000824●●●●●●
175. 75855588 c.1718C>G p.A573G missense 0.00000827●●●●●●
176. 75856974 c.1756C>T p.R586W missense 0.00007416●●●●●●
177. 75856975 c.1757G>A p.R586Q missense 0.00001648●●●●●●
178. 75857011 c.1793T>C p.V598A missense 0.00000824●●●●●●
179. 75857025 c.1807A>T p.T603S missense 0.00000824●●●●●●
180. 75857025 c.1807A>C p.T603P missense 0.00000824●●●●●●
181. 75857025 c.1807A>G p.T603A missense 0.00000824●●●●●●
182. 75857034 c.1816A>G p.I606V missense 0.00000824●●●●●●
183. 75857059 c.1841C>T p.T614M missense 0.00000826●●●●●●
184. 75857074 c.1856C>T p.A619V missense 0.00002477●●●●●●
185. 75857081 c.1863C>G p.N621K missense 0.00000826●●●●●●
186. 75857083 c.1865G>A p.R622K missense 0.00000826●●●●●●
187. 75857089 c.1871A>T p.E624V missense 0.00000827●●●●●●
188. 75860721 c.1888G>A p.A630T missense 0.00000828●●●●●●
189. 75860734 c.1901A>C p.E634A missense 0.00000828●●●●●●
190. 75860748 c.1915A>C p.K639Q missense 0.00000830●●●●●●
191. 75860754 c.1921G>A p.G641S missense 0.00000831●●●●●●
192. 75860766 c.1933G>A p.E645K missense 0.00000834●●●●●●
193. 75860770 c.1937A>C p.K646T missense 0.00000836●●●●●●
194. 75860773 c.1940C>T p.A647V missense 0.00005027●●●●●●
195. 75860784 c.1951G>A p.G651S missense 0.00005887●●●●●●
196. 75860802 c.1969A>G p.T657A missense 0.00002544●●●●●●
197. 75860803 c.1970C>T p.T657I missense 0.00000850●●●●●●
198. 75860826 c.1993G>C p.V665L missense 0.00000870●●●●●●
199. 75860839 c.2006G>T p.R669L missense 0.00005356●●●●●●
200. 75860839 c.2006G>A p.R669Q missense 0.00000893●●●●●●
201. 75863585 c.2030C>T p.S677L missense 0.00004119●●●●●●
202. 75863593 c.2038C>T p.R680C missense 0.00000824●●●●●●
203. 75863601 c.2046A>T p.L682F missense 0.00006589●●●●●●
204. 75863649 c.2094G>A p.M698I missense 0.00000824●●●●●●
205. 75863657 c.2102A>C p.Q701P missense 0.00001647●●●●●●
206. 75864818 c.2141A>G p.D714G missense 0.00000839●●●●●●
207. 75864883 c.2206A>G p.K736E missense 0.00000825●●●●●●
208. 75864896 c.2219C>T p.A740V missense 0.00000825●●●●●●
209. 75864914 c.2237C>A p.P746H missense 0.00000825●●●●●●
210. 75864945 c.2268T>G p.I756M missense 0.00000824●●●●●●
211. 75864950 c.2273G>A p.R758H missense 0.00009067●●●●●●
212. 75864952 c.2275C>T p.R759W missense 0.00001649●●●●●●
213. 75864962 c.2285G>A p.R762Q missense 0.00000824●●●●●●
214. 75865015 c.2338C>T p.R780C missense 0.00000824●●●●●●
215. 75865030 c.2353G>A p.A785T missense 0.00000824●●●●●●
216. 75865042 c.2365G>A p.E789K missense 0.00000825●●●●●●
217. 75865055 c.2378C>A p.T793N missense 0.00003299●●●●●●
218. 75865063 c.2386C>T p.P796S missense 0.00000825●●●●●●
219. 75865066 c.2389A>G p.M797V missense 0.00002478●●●●●●
220. 75865070 c.2393T>C p.V798A missense 0.00000826●●●●●●
221. 75865073 c.2396T>C p.M799T missense 0.00000826●●●●●●
222. 75865078 c.2401G>A p.A801T missense 0.00003306●●●●●●
223. 75865084 c.2407G>A p.A803T missense 0.00000827●●●●●●
224. 75865084 c.2407G>C p.A803P missense 0.00000827●●●●●●
225. 75865091 c.2414C>T p.A805V missense 0.00000827●●●●●●
226. 75865105 c.2428G>A p.D810N missense 0.00001657●●●●●●
227. 75866991 c.2438T>C p.L813P missense 0.00001648●●●●●●
228. 75866998 c.2445G>C p.K815N missense 0.00000824●●●●●●
229. 75867017 c.2464T>C p.Y822H missense 0.00000824●●●●●●
230. 75867020 c.2467C>T p.R823W missense 0.00000824●●●●●●
231. 75867021 c.2468G>A p.R823Q missense 0.00002472●●●●●●
232. 75867054 c.2501C>G p.A834G missense 0.00000824●●●●●●
233. 75867068 c.2515G>A p.E839K missense 0.00002474●●●●●●
234. 75867081 c.2528C>T p.P843L missense 0.00001650●●●●●●
235. 75867110 c.2557C>G p.R853G missense 0.00000826●●●●●●
236. 75868729 c.2560C>A p.L854I missense 0.00000825●●●●●●
237. 75868745 c.2576C>T p.A859V missense 0.00000824●●●●●●
238. 75868748 c.2579C>T p.P860L missense 0.00000824●●●●●●
239. 75868784 c.2615C>T p.P872L missense 0.00000824●●●●●●
240. 75868866 c.2697G>T p.M899I missense 0.00000825●●●●●●
241. 75868888 c.2719G>T p.D907Y missense 0.00000826●●●●●●
242. 75871667 c.2746C>T p.P916S missense 0.00002489●●●●●●
243. 75871682 c.2761G>A p.A921T missense 0.00000826●●●●●●
244. 75871721 c.2800G>A p.A934T missense 0.00000824●●●●●●
245. 75871724 c.2803G>A p.D935N missense 0.00001648●●●●●●
246. 75871728 c.2807C>T p.A936V missense 0.00001648●●●●●●
247. 75871748 c.2827C>A p.P943T missense 0.00001648●●●●●●
248. 75871754 c.2833A>G p.M945V missense 0.00000824●●●●●●
249. 75871772 c.2851C>T p.P951S missense 0.00001648●●●●●●
250. 75871776 c.2855A>G p.E952G missense 0.00000824●●●●●●
251. 75871784 c.2863T>A p.L955I missense 0.00001648●●●●●●
252. 75871787 c.2866A>C p.M956L missense 0.00000824●●●●●●
253. 75871788 c.2867T>G p.M956R missense 0.00003295●●●●●●
254. 75871796 c.2875A>G p.N959D missense 0.00000824●●●●●●
255. 75871797 c.2876A>G p.N959S missense 0.00000824●●●●●●
256. 75871803 c.2882C>T p.P961L missense 0.00000824●●●●●●
257. 75871814 c.2893C>T p.P965S missense 0.00001648●●●●●●
258. 75871827 c.2906C>A p.A969E missense 0.00000824●●●●●●
259. 75871829 c.2908G>C p.A970P missense 0.00000824●●●●●●
260. 75871830 c.2909C>G p.A970G missense 0.00000824●●●●●●
261. 75871835 c.2914T>A p.S972T missense 0.00000824●●●●●●
262. 75871845 c.2924G>A p.R975Q missense 0.00005768●●●●●●
263. 75871845 c.2924G>T p.R975L missense 0.00000824●●●●●●
264. 75873967 c.2975A>G p.K992R missense 0.00000825●●●●●●
265. 75873999 c.3007C>T p.R1003W missense 0.00000824●●●●●●
266. 75874018 c.3026G>T p.S1009I missense 0.00000825●●●●●●
267. 75874043 c.3051G>C p.Q1017H missense 0.00001649●●●●●●
268. 75874043 c.3051G>T p.Q1017H missense 0.00000825●●●●●●
269. 75874059 c.3067G>A p.A1023T missense 0.00000825●●●●●●
270. 75874083 c.3091C>T p.R1031W missense 0.00000826●●●●●●
271. 75874106 c.3114G>C p.K1038N missense 0.00000827●●●●●●
272. 75874625 c.3226C>T p.R1076W missense 0.00001529●●●●●●
273. 75874626 c.3227G>A p.R1076Q missense 0.00006212●●●●●●
274. 75877827 c.3305T>C p.V1102A missense 0.00000824●●●●●●
275. 75877841 c.3319C>T p.R1107W missense 0.00000824●●●●●●
276. 75877862 c.3340A>G p.I1114V missense 0.00000824●●●●●●
277. 75849829 c.1225C>T p.R409X nonsense 0.00001648●●●●●●
278. 75830465 c.277C>T p.Q93X nonsense 0.00001647●●●●●●
279. 75830501 c.313C>T p.R105X nonsense 0.00000824●●●●●●
280. 75834652 c.774G>A p.W258X nonsense 0.00000825●●●●●●
281. 75855509 c.1639C>T p.R547X nonsense 0.00000824●●●●●●
282. 75860838 c.2005C>T p.R669X nonsense 0.00000892●●●●●●
283. 75854218 c.1542C>T p.V514V splice site 0.00121003●●●●●●
284. 75863580 c.2025G>A p.V675V splice site 0.00253711●●●●●●
285. 75877774 c.3259-7C>T splice site 0.00000824●●●●●●
286. 75832614 c.622+4C>T splice site 0.00058493●●●●●●
287. 75843274 c.1022+3A>T splice site 0.00001686●●●●●●
288. 75802834 c.169-7C>G splice site 0.00004150●●●●●●
289. 75849776 c.1177-5T>C splice site 0.00006593●●●●●●
290. 75849961 c.1352+5G>A splice site 0.00006592●●●●●●
291. 75855619 c.1743+6A>T splice site 0.00014976●●●●●●
292. 75874547 c.3154-6C>T splice site 0.00001944●●●●●●
293. 75868729 c.2560C>T splice site 0.00013205●●●●●●
294. 75802920 c.239+9T>C splice site 0.00002477●●●●●●
295. 75871659 c.2746-8C>T splice site 0.00004167●●●●●●
296. 75874550 c.3154-3T>C splice site 0.00001787●●●●●●
297. 75874667 c.3258+10A>T splice site 0.00371424●●●●●●
298. 75877770 c.3259-11T>C splice site 0.00000824●●●●●●
299. 75758140 c.168+7G>T splice site 0.00008134●●●●●●
300. 75802837 c.169-4G>A splice site 0.00000829●●●●●●
301. 75802917 c.239+6T>G splice site 0.00002476●●●●●●
302. 75830422 c.240-6_240-5insT splice site 0.00004943●●●●●●
303. 75830424 c.240-4A>G splice site 0.00002471●●●●●●
304. 75830840 c.498A>G splice site 0.00002479●●●●●●
305. 75832609 c.621A>T splice site 0.00000824●●●●●●
306. 75832614 c.622+4C>A splice site 0.00001648●●●●●●
307. 75832614 c.622+4C>G splice site 0.00004119●●●●●●
308. 75834665 c.783+4C>T splice site 0.00000826●●●●●●
309. 75834666 c.783+5G>A splice site 0.00000826●●●●●●
310. 75842309 c.874+7C>G splice site 0.00000830●●●●●●
311. 75842310 c.874+8T>C splice site 0.00000830●●●●●●
312. 75849112 c.1176+5T>C splice site 0.00000826●●●●●●
313. 75849774 c.1177-7T>C splice site 0.00000824●●●●●●
314. 75849775 c.1177-6G>C splice site 0.00002473●●●●●●
315. 75854223 c.1543+4A>G splice site 0.00000989●●●●●●
316. 75855410 c.1544-4C>T splice site 0.00000824●●●●●●
317. 75855617 c.1743+4G>A splice site 0.00002494●●●●●●
318. 75855619 c.1743+6A>G splice site 0.00006656●●●●●●
319. 75857097 c.1872+7A>G splice site 0.00000827●●●●●●
320. 75860698 c.1873-8T>G splice site 0.00000831●●●●●●
321. 75860702 c.1873-4C>T splice site 0.00000830●●●●●●
322. 75860855 c.2022G>A splice site 0.00000937●●●●●●
323. 75866982 c.2435-6G>A splice site 0.00000824●●●●●●
324. 75868922 c.2745+8G>A splice site 0.00000829●●●●●●
325. 75871660 c.2746-7G>A splice site 0.00001665●●●●●●
326. 75871662 c.2746-5C>T splice site 0.00000831●●●●●●
327. 75871669 c.2748G>A splice site 0.00000829●●●●●●
328. 75871874 c.2949+4C>T splice site 0.00000824●●●●●●
329. 75873936 c.2950-6C>T splice site 0.00000828●●●●●●
330. 75874151 c.3153+6C>T splice site 0.00001669●●●●●●
331. 75874152 c.3153+7G>A splice site 0.00000838●●●●●●
332. 75874547 c.3154-6C>G splice site 0.00001944●●●●●●
333. 75874548 c.3154-5T>G splice site 0.00001895●●●●●●
334. 75874662 c.3258+5G>A splice site 0.00002288●●●●●●
335. 75877778 c.3259-3C>T splice site 0.00000824●●●●●●
336. 75834531 c.653_654insA p.N220Kfs*21 frameshift 0.00000828●●●●●●
337. 75855583 c.1713delA p.A573Hfs*8 frameshift 0.00002478●●●●●●
338. 75758046 c.81_82insG p.Glu28GlyfsTer12 frameshift 0.00001460●●●●●●
339. 75843262 c.1013_1014insCC p.Arg339ProfsTer40 frameshift 0.00000834●●●●●●
340. 75871749 c.2828_2829delCT p.Pro943ArgfsTer9 frameshift 0.00004119●●●●●●
341. 75871782 c.2861_2863delTGT p.L954_L955delinsL inframe 0.00042836●●●●●●
342. 75849813 c.1209_1211delAGG p.Gly404del inframe 0.00000824●●●●●●
343. 75871695 c.2774_2779delTAGGTG p.Gly926_Val927del inframe 0.00004124●●●●●●
344. 75874643 c.3244_3246delGAG p.Glu1082del inframe 0.00001808●●●●●●

* 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.