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