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. 75843268 c.1019C>T p.A340V missense 0.00004192●●●●●●
55. 75854166 c.1490T>C p.I497T 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. 75871749 c.2828_2829delCT p.Pro943ArgfsTer9 frameshift 0.00004119●●●●●●
65. 75832553 c.565G>T p.V189L missense 0.00004119●●●●●●
66. 75832614 c.622+4C>G splice site 0.00004119●●●●●●
67. 75863585 c.2030C>T p.S677L 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. 75857062 c.1844C>T p.A615V missense 0.00002475●●●●●●
94. 75842251 c.823T>G p.S275A 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. 75868799 c.2630C>T p.P877L missense 0.00002472●●●●●●
101. 75877789 c.3267G>C p.E1089D missense 0.00002472●●●●●●
102. 75871827 c.2906C>T p.A969V missense 0.00002472●●●●●●
103. 75867021 c.2468G>A p.R823Q missense 0.00002472●●●●●●
104. 75843201 c.952C>T p.R318C 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. 75802910 c.238A>C p.K80Q missense 0.00001651●●●●●●
128. 75842234 c.806C>G p.A269G missense 0.00001651●●●●●●
129. 75842281 c.853C>T p.R285C 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. 75871826 c.2905G>A p.A969T missense 0.00001648●●●●●●
135. 75855453 c.1583G>A p.R528H missense 0.00001648●●●●●●
136. 75871772 c.2851C>T p.P951S missense 0.00001648●●●●●●
137. 75832551 c.563G>A p.R188Q missense 0.00001648●●●●●●
138. 75843190 c.941C>A p.A314E missense 0.00001648●●●●●●
139. 75855483 c.1613G>A p.R538Q missense 0.00001648●●●●●●
140. 75871728 c.2807C>T p.A936V missense 0.00001648●●●●●●
141. 75832614 c.622+4C>A splice site 0.00001648●●●●●●
142. 75856975 c.1757G>A p.R586Q missense 0.00001648●●●●●●
143. 75866991 c.2438T>C p.L813P missense 0.00001648●●●●●●
144. 75871814 c.2893C>T p.P965S missense 0.00001648●●●●●●
145. 75871748 c.2827C>A p.P943T missense 0.00001648●●●●●●
146. 75832499 c.511A>G p.M171V missense 0.00001648●●●●●●
147. 75849850 c.1246C>T p.R416W missense 0.00001648●●●●●●
148. 75871784 c.2863T>A p.L955I missense 0.00001648●●●●●●
149. 75866997 c.2444A>G p.K815R missense 0.00001648●●●●●●
150. 75849829 c.1225C>T p.R409X nonsense 0.00001648●●●●●●
151. 75871724 c.2803G>A p.D935N missense 0.00001648●●●●●●
152. 75849851 c.1247G>A p.R416Q missense 0.00001648●●●●●●
153. 75863657 c.2102A>C p.Q701P missense 0.00001647●●●●●●
154. 75849872 c.1268A>G p.D423G missense 0.00001647●●●●●●
155. 75830465 c.277C>T p.Q93X nonsense 0.00001647●●●●●●
156. 75830470 c.282G>A p.M94I missense 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. 75848970 c.1039C>T p.P347S missense 0.00000834●●●●●●
175. 75860766 c.1933G>A p.E645K missense 0.00000834●●●●●●
176. 75843262 c.1013_1014insCC p.Arg339ProfsTer40 frameshift 0.00000834●●●●●●
177. 75848976 c.1045G>A p.A349T missense 0.00000833●●●●●●
178. 75848980 c.1049T>C p.M350T missense 0.00000832●●●●●●
179. 75834513 c.635T>C p.F212S 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. 75860748 c.1915A>C p.K639Q missense 0.00000830●●●●●●
185. 75842309 c.874+7C>G splice site 0.00000830●●●●●●
186. 75860702 c.1873-4C>T splice site 0.00000830●●●●●●
187. 75842310 c.874+8T>C splice site 0.00000830●●●●●●
188. 75802837 c.169-4G>A splice site 0.00000829●●●●●●
189. 75868922 c.2745+8G>A splice site 0.00000829●●●●●●
190. 75871669 c.2748G>A splice site 0.00000829●●●●●●
191. 75865109 c.2432C>G p.P811R missense 0.00000829●●●●●●
192. 75834531 c.653_654insA p.N220Kfs*21 frameshift 0.00000828●●●●●●
193. 75873936 c.2950-6C>T splice site 0.00000828●●●●●●
194. 75854111 c.1435C>T p.R479W missense 0.00000828●●●●●●
195. 75860721 c.1888G>A p.A630T missense 0.00000828●●●●●●
196. 75860734 c.1901A>C p.E634A missense 0.00000828●●●●●●
197. 75802857 c.185T>C p.V62A missense 0.00000827●●●●●●
198. 75865091 c.2414C>T p.A805V missense 0.00000827●●●●●●
199. 75857097 c.1872+7A>G splice site 0.00000827●●●●●●
200. 75857089 c.1871A>T p.E624V missense 0.00000827●●●●●●
201. 75802856 c.184G>A p.V62I missense 0.00000827●●●●●●
202. 75865084 c.2407G>A p.A803T missense 0.00000827●●●●●●
203. 75854103 c.1427A>G p.K476R missense 0.00000827●●●●●●
204. 75874106 c.3114G>C p.K1038N missense 0.00000827●●●●●●
205. 75865084 c.2407G>C p.A803P missense 0.00000827●●●●●●
206. 75855588 c.1718C>G p.A573G missense 0.00000827●●●●●●
207. 75857079 c.1861A>G p.N621D missense 0.00000826●●●●●●
208. 75834665 c.783+4C>T splice site 0.00000826●●●●●●
209. 75867092 c.2539C>T p.P847S missense 0.00000826●●●●●●
210. 75857083 c.1865G>A p.R622K missense 0.00000826●●●●●●
211. 75857059 c.1841C>T p.T614M missense 0.00000826●●●●●●
212. 75849112 c.1176+5T>C splice site 0.00000826●●●●●●
213. 75802869 c.197A>G p.E66G missense 0.00000826●●●●●●
214. 75842291 c.863G>C p.S288T missense 0.00000826●●●●●●
215. 75871682 c.2761G>A p.A921T missense 0.00000826●●●●●●
216. 75834666 c.783+5G>A splice site 0.00000826●●●●●●
217. 75865072 c.2395A>G p.M799V missense 0.00000826●●●●●●
218. 75874083 c.3091C>T p.R1031W missense 0.00000826●●●●●●
219. 75868897 c.2728C>G p.R910G missense 0.00000826●●●●●●
220. 75865070 c.2393T>C p.V798A missense 0.00000826●●●●●●
221. 75868888 c.2719G>T p.D907Y missense 0.00000826●●●●●●
222. 75857081 c.1863C>G p.N621K missense 0.00000826●●●●●●
223. 75865073 c.2396T>C p.M799T missense 0.00000826●●●●●●
224. 75854031 c.1355G>T p.G452V missense 0.00000826●●●●●●
225. 75867110 c.2557C>G p.R853G missense 0.00000826●●●●●●
226. 75842240 c.812C>T p.A271V missense 0.00000825●●●●●●
227. 75834652 c.774G>A p.W258X nonsense 0.00000825●●●●●●
228. 75849052 c.1121T>C p.L374P missense 0.00000825●●●●●●
229. 75874059 c.3067G>A p.A1023T missense 0.00000825●●●●●●
230. 75864914 c.2237C>A p.P746H missense 0.00000825●●●●●●
231. 75842255 c.827A>G p.K276R missense 0.00000825●●●●●●
232. 75868729 c.2560C>A p.L854I missense 0.00000825●●●●●●
233. 75830824 c.482C>T p.T161I missense 0.00000825●●●●●●
234. 75874018 c.3026G>T p.S1009I missense 0.00000825●●●●●●
235. 75865042 c.2365G>A p.E789K missense 0.00000825●●●●●●
236. 75842245 c.817A>C p.I273L missense 0.00000825●●●●●●
237. 75830754 c.412T>G p.C138G missense 0.00000825●●●●●●
238. 75855560 c.1690G>T p.G564W missense 0.00000825●●●●●●
239. 75842272 c.844G>T p.G282C missense 0.00000825●●●●●●
240. 75868866 c.2697G>T p.M899I missense 0.00000825●●●●●●
241. 75802891 c.219T>A p.D73E missense 0.00000825●●●●●●
242. 75864883 c.2206A>G p.K736E missense 0.00000825●●●●●●
243. 75842246 c.818T>C p.I273T missense 0.00000825●●●●●●
244. 75865048 c.2371A>C p.S791R missense 0.00000825●●●●●●
245. 75842237 c.809T>C p.L270S missense 0.00000825●●●●●●
246. 75873967 c.2975A>G p.K992R missense 0.00000825●●●●●●
247. 75871707 c.2786C>T p.A929V missense 0.00000825●●●●●●
248. 75865063 c.2386C>T p.P796S missense 0.00000825●●●●●●
249. 75874043 c.3051G>T p.Q1017H missense 0.00000825●●●●●●
250. 75864896 c.2219C>T p.A740V missense 0.00000825●●●●●●
251. 75864918 c.2241G>C p.Q747H missense 0.00000825●●●●●●
252. 75877841 c.3319C>T p.R1107W missense 0.00000824●●●●●●
253. 75866998 c.2445G>C p.K815N missense 0.00000824●●●●●●
254. 75857025 c.1807A>T p.T603S missense 0.00000824●●●●●●
255. 75871874 c.2949+4C>T splice site 0.00000824●●●●●●
256. 75873999 c.3007C>T p.R1003W missense 0.00000824●●●●●●
257. 75865030 c.2353G>A p.A785T missense 0.00000824●●●●●●
258. 75855476 c.1606C>T p.P536S missense 0.00000824●●●●●●
259. 75843177 c.928G>A p.G310S missense 0.00000824●●●●●●
260. 75843124 c.875G>A p.G292E missense 0.00000824●●●●●●
261. 75871787 c.2866A>C p.M956L missense 0.00000824●●●●●●
262. 75871797 c.2876A>G p.N959S missense 0.00000824●●●●●●
263. 75856983 c.1765G>A p.E589K missense 0.00000824●●●●●●
264. 75849902 c.1298G>A p.R433H missense 0.00000824●●●●●●
265. 75832580 c.592G>T p.V198L missense 0.00000824●●●●●●
266. 75871796 c.2875A>C p.N959H missense 0.00000824●●●●●●
267. 75832609 c.621A>T splice site 0.00000824●●●●●●
268. 75849916 c.1312A>T p.I438L missense 0.00000824●●●●●●
269. 75849813 c.1209_1211delAGG p.Gly404del inframe 0.00000824●●●●●●
270. 75867054 c.2501C>G p.A834G missense 0.00000824●●●●●●
271. 75849809 c.1205C>T p.P402L missense 0.00000824●●●●●●
272. 75830501 c.313C>T p.R105X nonsense 0.00000824●●●●●●
273. 75871746 c.2825C>A p.P942H missense 0.00000824●●●●●●
274. 75855509 c.1639C>T p.R547X nonsense 0.00000824●●●●●●
275. 75843217 c.968G>A p.G323E missense 0.00000824●●●●●●
276. 75877778 c.3259-3C>T splice site 0.00000824●●●●●●
277. 75864982 c.2305A>G p.R769G missense 0.00000824●●●●●●
278. 75871829 c.2908G>C p.A970P missense 0.00000824●●●●●●
279. 75877774 c.3259-7C>T splice site 0.00000824●●●●●●
280. 75863593 c.2038C>T p.R680C missense 0.00000824●●●●●●
281. 75834582 c.704A>G p.E235G missense 0.00000824●●●●●●
282. 75868784 c.2615C>T p.P872L missense 0.00000824●●●●●●
283. 75849862 c.1258G>A p.E420K missense 0.00000824●●●●●●
284. 75832496 c.508A>G p.K170E missense 0.00000824●●●●●●
285. 75857025 c.1807A>C p.T603P missense 0.00000824●●●●●●
286. 75830460 c.272C>A p.A91E missense 0.00000824●●●●●●
287. 75863590 c.2035G>T p.A679S missense 0.00000824●●●●●●
288. 75877862 c.3340A>G p.I1114V missense 0.00000824●●●●●●
289. 75867017 c.2464T>C p.Y822H missense 0.00000824●●●●●●
290. 75843137 c.888G>T p.E296D missense 0.00000824●●●●●●
291. 75871845 c.2924G>T p.R975L missense 0.00000824●●●●●●
292. 75855495 c.1625T>C p.L542P missense 0.00000824●●●●●●
293. 75877770 c.3259-11T>C splice site 0.00000824●●●●●●
294. 75871803 c.2882C>T p.P961L missense 0.00000824●●●●●●
295. 75849938 c.1334T>C p.L445S missense 0.00000824●●●●●●
296. 75849905 c.1301C>A p.S434Y missense 0.00000824●●●●●●
297. 75832580 c.592G>A p.V198M missense 0.00000824●●●●●●
298. 75871773 c.2852C>G p.P951R missense 0.00000824●●●●●●
299. 75849857 c.1253T>C p.I418T missense 0.00000824●●●●●●
300. 75849829 c.1225C>G p.R409G missense 0.00000824●●●●●●
301. 75855510 c.1640G>A p.R547Q missense 0.00000824●●●●●●
302. 75864962 c.2285G>A p.R762Q missense 0.00000824●●●●●●
303. 75855467 c.1597A>G p.M533V missense 0.00000824●●●●●●
304. 75866982 c.2435-6G>A splice site 0.00000824●●●●●●
305. 75871830 c.2909C>G p.A970G missense 0.00000824●●●●●●
306. 75834597 c.719A>C p.E240A missense 0.00000824●●●●●●
307. 75855410 c.1544-4C>T splice site 0.00000824●●●●●●
308. 75832515 c.527A>G p.D176G missense 0.00000824●●●●●●
309. 75849774 c.1177-7T>C splice site 0.00000824●●●●●●
310. 75871776 c.2855A>G p.E952G missense 0.00000824●●●●●●
311. 75832553 c.565G>C p.V189L missense 0.00000824●●●●●●
312. 75857025 c.1807A>G p.T603A missense 0.00000824●●●●●●
313. 75864950 c.2273G>C p.R758P missense 0.00000824●●●●●●
314. 75843196 c.947A>C p.K316T missense 0.00000824●●●●●●
315. 75867020 c.2467C>T p.R823W missense 0.00000824●●●●●●
316. 75843198 c.949G>C p.E317Q missense 0.00000824●●●●●●
317. 75855490 c.1620T>G p.D540E missense 0.00000824●●●●●●
318. 75864945 c.2268T>G p.I756M missense 0.00000824●●●●●●
319. 75871796 c.2875A>G p.N959D missense 0.00000824●●●●●●
320. 75871721 c.2800G>A p.A934T missense 0.00000824●●●●●●
321. 75849950 c.1346G>T p.R449L missense 0.00000824●●●●●●
322. 75849799 c.1195A>G p.N399D missense 0.00000824●●●●●●
323. 75830797 c.455A>G p.E152G missense 0.00000824●●●●●●
324. 75868745 c.2576C>T p.A859V missense 0.00000824●●●●●●
325. 75877827 c.3305T>C p.V1102A missense 0.00000824●●●●●●
326. 75857011 c.1793T>C p.V598A missense 0.00000824●●●●●●
327. 75871835 c.2914T>A p.S972T missense 0.00000824●●●●●●
328. 75865015 c.2338C>T p.R780C missense 0.00000824●●●●●●
329. 75855469 c.1599G>C p.M533I missense 0.00000824●●●●●●
330. 75843172 c.923A>T p.K308I missense 0.00000824●●●●●●
331. 75855429 c.1559G>T p.R520L missense 0.00000824●●●●●●
332. 75834624 c.746A>G p.Q249R missense 0.00000824●●●●●●
333. 75863649 c.2094G>A p.M698I missense 0.00000824●●●●●●
334. 75849913 c.1309G>A p.E437K missense 0.00000824●●●●●●
335. 75849896 c.1292T>G p.I431S missense 0.00000824●●●●●●
336. 75832573 c.585G>A p.M195I missense 0.00000824●●●●●●
337. 75857034 c.1816A>G p.I606V missense 0.00000824●●●●●●
338. 75855497 c.1627G>T p.A543S missense 0.00000824●●●●●●
339. 75871827 c.2906C>A p.A969E missense 0.00000824●●●●●●
340. 75871754 c.2833A>G p.M945V missense 0.00000824●●●●●●
341. 75834579 c.701T>C p.V234A missense 0.00000824●●●●●●
342. 75832536 c.548C>T p.T183I missense 0.00000824●●●●●●
343. 75832492 c.504G>A p.M168I missense 0.00000824●●●●●●
344. 75868748 c.2579C>T p.P860L 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.