PRPF8 variants in ExAC

PRPF8 gene summary
PRPF8 variants in

The table below lists the PRPF8 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. 1576369 c.3774+6G>A splice site 0.21714125●●●●●●
2. 1584132 c.993-7A>G splice site 0.02672806●●●●●●
3. 1586998 c.101-3C>T splice site 0.01201199●●●●●●
4. 1577985 c.3061-11T>G splice site 0.01044500●●●●●●
5. 1582714 c.1290-10A>G splice site 0.00563065●●●●●●
6. 1554254 c.6854-4G>A splice site 0.00420120●●●●●●
7. 1585338 c.435-6T>G splice site 0.00319960●●●●●●
8. 1557063 c.6227+8C>T splice site 0.00030475●●●●●●
9. 1581953 c.1720-7A>G splice site 0.00028892●●●●●●
10. 1560055 c.5506T>C p.L1836L splice site 0.00025871●●●●●●
11. 1583101 c.1099-8T>C splice site 0.00024718●●●●●●
12. 1587003 c.101-8C>T splice site 0.00022563●●●●●●
13. 1582939 c.1253C>G p.T418S missense 0.00022241●●●●●●
14. 1562060 c.5139-3C>T splice site 0.00019071●●●●●●
15. 1585468 c.389A>G p.N130S missense 0.00016491●●●●●●
16. 1554253 c.6854-3A>C splice site 0.00016475●●●●●●
17. 1585574 c.283A>G p.M95V missense 0.00014828●●●●●●
18. 1587828 c.38C>T p.P13L missense 0.00014044●●●●●●
19. 1580992 c.1855-4G>A splice site 0.00013377●●●●●●
20. 1587829 c.37C>G p.P13A missense 0.00012284●●●●●●
21. 1554850 c.6511-3T>C splice site 0.00010708●●●●●●
22. 1580974 c.1869G>C p.K623N missense 0.00010001●●●●●●
23. 1586965 c.131G>T p.R44L missense 0.00008246●●●●●●
24. 1554254 c.6854-4G>C splice site 0.00007414●●●●●●
25. 1564124 c.4509-3C>T splice site 0.00006641●●●●●●
26. 1562847 c.4947-5C>T splice site 0.00005771●●●●●●
27. 1576868 c.3447-7T>G splice site 0.00005767●●●●●●
28. 1580008 c.2182-3T>C splice site 0.00004967●●●●●●
29. 1581944 c.1722G>T p.L574L splice site 0.00004953●●●●●●
30. 1586930 c.166G>T p.A56S missense 0.00004943●●●●●●
31. 1563293 c.4788G>T p.V1596V splice site 0.00004942●●●●●●
32. 1584855 c.783G>C p.K261N missense 0.00004942●●●●●●
33. 1562646 c.5138+5G>C splice site 0.00004942●●●●●●
34. 1587810 c.56C>T p.A19V missense 0.00004361●●●●●●
35. 1562065 c.5139-8C>T splice site 0.00004157●●●●●●
36. 1558641 c.5987+3G>T splice site 0.00004139●●●●●●
37. 1582179 c.1600-4C>T splice site 0.00004125●●●●●●
38. 1562032 c.5164A>G p.S1722G missense 0.00004122●●●●●●
39. 1582490 c.1420C>T p.R474C missense 0.00004120●●●●●●
40. 1584958 c.680G>A p.R227H missense 0.00004119●●●●●●
41. 1554937 c.6510+5T>C splice site 0.00004119●●●●●●
42. 1558848 c.5794-11T>C splice site 0.00004118●●●●●●
43. 1558840 c.5794-3C>G splice site 0.00004118●●●●●●
44. 1587807 c.59C>G p.P20R missense 0.00003489●●●●●●
45. 1562062 c.5139-5C>T splice site 0.00003322●●●●●●
46. 1576444 c.3705G>C p.E1235D missense 0.00003297●●●●●●
47. 1584989 c.654-5C>T splice site 0.00003296●●●●●●
48. 1578463 c.3043G>A p.V1015I missense 0.00003296●●●●●●
49. 1584258 c.957G>C p.L319F missense 0.00003295●●●●●●
50. 1587792 c.74T>C p.M25T missense 0.00002607●●●●●●
51. 1586993 c.103C>A p.R35R splice site 0.00002490●●●●●●
52. 1554515 c.6740A>G p.N2247S missense 0.00002487●●●●●●
53. 1585420 c.434+3G>A splice site 0.00002487●●●●●●
54. 1576647 c.3657+4C>T splice site 0.00002486●●●●●●
55. 1585328 c.439A>G p.M147V missense 0.00002483●●●●●●
56. 1582303 c.1599+8C>T splice site 0.00002479●●●●●●
57. 1579989 c.2198C>T p.T733M missense 0.00002479●●●●●●
58. 1584325 c.890A>G p.N297S missense 0.00002476●●●●●●
59. 1578441 c.3060+5G>A splice site 0.00002474●●●●●●
60. 1584961 c.677A>T p.Q226L missense 0.00002471●●●●●●
61. 1577092 c.3394A>C p.K1132Q missense 0.00002471●●●●●●
62. 1561681 c.5377-6C>T splice site 0.00002471●●●●●●
63. 1583077 c.1115C>T p.P372L missense 0.00002471●●●●●●
64. 1561814 c.5376+6_5376+9delTGTT splice site 0.00002471●●●●●●
65. 1579113 c.2680-7C>T splice site 0.00002471●●●●●●
66. 1565234 c.3988A>G p.M1330V missense 0.00002471●●●●●●
67. 1587801 c.65C>T p.P22L missense 0.00001740●●●●●●
68. 1577917 c.3118A>G p.I1040V missense 0.00001660●●●●●●
69. 1558636 c.5987+8delG splice site 0.00001660●●●●●●
70. 1558637 c.5987+7A>G splice site 0.00001658●●●●●●
71. 1584353 c.867-5C>T splice site 0.00001657●●●●●●
72. 1580008 c.2182-3dupT splice site 0.00001655●●●●●●
73. 1564939 c.4168G>A p.A1390T missense 0.00001651●●●●●●
74. 1555044 c.6408C>A p.N2136K missense 0.00001650●●●●●●
75. 1554446 c.6809T>G p.F2270C missense 0.00001650●●●●●●
76. 1565065 c.4042G>A p.V1348I missense 0.00001649●●●●●●
77. 1585472 c.385G>A p.V129I missense 0.00001649●●●●●●
78. 1576452 c.3697G>T p.D1233Y missense 0.00001648●●●●●●
79. 1561813 c.5376+7G>A splice site 0.00001648●●●●●●
80. 1582627 c.1367T>A p.L456Q missense 0.00001648●●●●●●
81. 1579217 c.2679+5G>A splice site 0.00001648●●●●●●
82. 1576457 c.3692G>A p.R1231H missense 0.00001648●●●●●●
83. 1564462 c.4339-6A>G splice site 0.00001648●●●●●●
84. 1584805 c.833A>G p.K278R missense 0.00001648●●●●●●
85. 1558712 c.5919C>G p.D1973E missense 0.00001648●●●●●●
86. 1582478 c.1432G>A p.A478T missense 0.00001648●●●●●●
87. 1580265 c.2181+5G>C splice site 0.00001648●●●●●●
88. 1578632 c.2874C>T splice site 0.00001648●●●●●●
89. 1554121 c.6983C>T p.A2328V missense 0.00001648●●●●●●
90. 1578613 c.2893G>A p.V965M missense 0.00001648●●●●●●
91. 1585592 c.270-5G>A splice site 0.00001648●●●●●●
92. 1561814 c.5376+6T>C splice site 0.00001648●●●●●●
93. 1584043 c.1075A>G p.I359V missense 0.00001647●●●●●●
94. 1578585 c.2921A>G p.N974S missense 0.00001647●●●●●●
95. 1562726 c.5063C>G p.T1688S missense 0.00001647●●●●●●
96. 1584233 c.982C>T p.H328Y missense 0.00001647●●●●●●
97. 1583046 c.1146G>C p.E382D missense 0.00001647●●●●●●
98. 1586909 c.187C>T p.P63S missense 0.00001647●●●●●●
99. 1554208 c.6896C>T p.A2299V missense 0.00001647●●●●●●
100. 1561995 c.5201T>C p.M1734T missense 0.00001647●●●●●●
101. 1577175 c.3311A>G p.D1104G missense 0.00001647●●●●●●
102. 1554760 c.6598A>G p.M2200V missense 0.00001647●●●●●●
103. 1557242 c.6056C>T p.P2019L missense 0.00001647●●●●●●
104. 1583050 c.1142C>T p.P381L missense 0.00001647●●●●●●
105. 1582960 c.1232T>A p.F411Y missense 0.00001647●●●●●●
106. 1578568 c.2938C>G p.R980G missense 0.00001647●●●●●●
107. 1584922 c.716A>G p.Y239C missense 0.00001647●●●●●●
108. 1579673 c.2389-9A>G splice site 0.00001647●●●●●●
109. 1561817 c.5376+3G>A splice site 0.00001647●●●●●●
110. 1582969 c.1223C>T p.P408L missense 0.00001647●●●●●●
111. 1582951 c.1241G>T p.R414L missense 0.00001647●●●●●●
112. 1577110 c.3376G>A p.V1126I missense 0.00001647●●●●●●
113. 1576785 c.3523G>A p.V1175M missense 0.00001647●●●●●●
114. 1579662 c.2391C>T splice site 0.00001647●●●●●●
115. 1587758 c.100+8G>A splice site 0.00000884●●●●●●
116. 1587758 c.100+8G>C splice site 0.00000884●●●●●●
117. 1587838 c.28C>T p.P10S missense 0.00000881●●●●●●
118. 1587835 c.31G>A p.G11S missense 0.00000880●●●●●●
119. 1560053 c.5508G>A splice site 0.00000880●●●●●●
120. 1587829 c.37C>T p.P13S missense 0.00000877●●●●●●
121. 1587822 c.44C>T p.P15L missense 0.00000875●●●●●●
122. 1587807 c.59C>T p.P20L missense 0.00000872●●●●●●
123. 1587802 c.64C>T p.P22S missense 0.00000870●●●●●●
124. 1587789 c.77C>T p.S26L missense 0.00000869●●●●●●
125. 1580992 c.1855-4G>T splice site 0.00000836●●●●●●
126. 1580993 c.1855-5C>A splice site 0.00000836●●●●●●
127. 1580985 c.1858C>G p.P620A missense 0.00000835●●●●●●
128. 1582069 c.1706T>C p.V569A missense 0.00000835●●●●●●
129. 1577979 c.3061-5dupT splice site 0.00000834●●●●●●
130. 1586999 c.101-4C>T splice site 0.00000833●●●●●●
131. 1577958 c.3077A>G p.N1026S missense 0.00000833●●●●●●
132. 1580969 c.1874C>G p.P625R missense 0.00000833●●●●●●
133. 1587000 c.101-5T>C splice site 0.00000833●●●●●●
134. 1559935 c.5619+7G>C splice site 0.00000831●●●●●●
135. 1564127 c.4509-6C>G splice site 0.00000830●●●●●●
136. 1582064 c.1711G>T p.A571S missense 0.00000829●●●●●●
137. 1586992 c.104G>T p.R35L missense 0.00000829●●●●●●
138. 1584355 c.867-7A>T splice site 0.00000829●●●●●●
139. 1580939 c.1904G>A p.R635Q missense 0.00000829●●●●●●
140. 1582707 c.1290-3C>T splice site 0.00000829●●●●●●
141. 1585339 c.435-7C>T splice site 0.00000829●●●●●●
142. 1582703 c.1291T>C p.Y431H missense 0.00000829●●●●●●
143. 1582091 c.1684G>A p.V562M missense 0.00000829●●●●●●
144. 1554578 c.6677C>T p.T2226M missense 0.00000829●●●●●●
145. 1582052 c.1719+4A>G splice site 0.00000829●●●●●●
146. 1582114 c.1661C>G p.T554S missense 0.00000828●●●●●●
147. 1582700 c.1294C>T p.R432W missense 0.00000828●●●●●●
148. 1582120 c.1655G>A p.R552H missense 0.00000828●●●●●●
149. 1585331 c.436T>G p.S146A missense 0.00000828●●●●●●
150. 1584353 c.867-5C>G splice site 0.00000828●●●●●●
151. 1585428 c.429G>T p.Q143H missense 0.00000828●●●●●●
152. 1584352 c.867-4C>A splice site 0.00000828●●●●●●
153. 1580009 c.2182-4T>C splice site 0.00000828●●●●●●
154. 1582685 c.1309G>A p.A437T missense 0.00000827●●●●●●
155. 1580003 c.2184C>G splice site 0.00000827●●●●●●
156. 1563128 c.4946+7G>A splice site 0.00000827●●●●●●
157. 1554488 c.6767A>T p.Y2256F missense 0.00000827●●●●●●
158. 1576368 c.3774+7G>A splice site 0.00000827●●●●●●
159. 1585317 c.450G>T p.M150I missense 0.00000827●●●●●●
160. 1585318 c.449T>C p.M150T missense 0.00000827●●●●●●
161. 1577860 c.3175A>G p.S1059G missense 0.00000827●●●●●●
162. 1554459 c.6796C>T p.R2266C missense 0.00000826●●●●●●
163. 1564897 c.4202+8C>T splice site 0.00000826●●●●●●
164. 1555084 c.6370-2A>G essential splice site 0.00000826●●●●●●
165. 1564699 c.4204C>T p.R1402C missense 0.00000826●●●●●●
166. 1555086 c.6370-4C>G splice site 0.00000826●●●●●●
167. 1585309 c.458G>A p.R153Q missense 0.00000826●●●●●●
168. 1581925 c.1741A>C p.I581L missense 0.00000826●●●●●●
169. 1577830 c.3205A>G p.N1069D missense 0.00000826●●●●●●
170. 1554475 c.6780delG p.Met2261CysfsTer32 frameshift 0.00000826●●●●●●
171. 1581927 c.1739A>G p.Y580C missense 0.00000826●●●●●●
172. 1582897 c.1289+6G>T splice site 0.00000825●●●●●●
173. 1585454 c.403G>A p.V135I missense 0.00000825●●●●●●
174. 1577778 c.3257G>A p.R1086H missense 0.00000825●●●●●●
175. 1579924 c.2263C>T p.H755Y missense 0.00000825●●●●●●
176. 1564659 c.4244G>C p.G1415A missense 0.00000825●●●●●●
177. 1554100 c.7004C>T p.A2335V missense 0.00000825●●●●●●
178. 1585292 c.475_477delAGG p.Arg159del inframe 0.00000825●●●●●●
179. 1581888 c.1778G>A p.R593Q missense 0.00000825●●●●●●
180. 1578439 c.3060+7C>T splice site 0.00000825●●●●●●
181. 1585459 c.398C>A p.P133H missense 0.00000825●●●●●●
182. 1577810 c.3225G>T p.Q1075H missense 0.00000825●●●●●●
183. 1577782 c.3253A>G p.I1085V missense 0.00000825●●●●●●
184. 1555061 c.6391G>A p.V2131M missense 0.00000825●●●●●●
185. 1554425 c.6830C>A p.S2277Y missense 0.00000825●●●●●●
186. 1582182 c.1600-7_1600-5delTCT splice site 0.00000825●●●●●●
187. 1554106 c.6998T>A p.L2333Q missense 0.00000825●●●●●●
188. 1578442 c.3060+4C>T splice site 0.00000825●●●●●●
189. 1554097 c.7007G>A nonsense 0.00000825●●●●●●
190. 1577793 c.3242C>T p.A1081V missense 0.00000825●●●●●●
191. 1582895 c.1289+8T>G splice site 0.00000825●●●●●●
192. 1586968 c.128A>G p.K43R missense 0.00000825●●●●●●
193. 1577799 c.3236C>G p.T1079S missense 0.00000825●●●●●●
194. 1584316 c.899A>G p.N300S missense 0.00000824●●●●●●
195. 1577065 c.3421C>G p.R1141G missense 0.00000824●●●●●●
196. 1580350 c.2101A>G p.I701V missense 0.00000824●●●●●●
197. 1576821 c.3487C>T p.R1163W missense 0.00000824●●●●●●
198. 1558684 c.5947C>T p.L1983F missense 0.00000824●●●●●●
199. 1584250 c.965A>G p.N322S missense 0.00000824●●●●●●
200. 1576865 c.3447-4G>A splice site 0.00000824●●●●●●
201. 1579066 c.2720C>T p.P907L missense 0.00000824●●●●●●
202. 1556867 c.6338A>T p.K2113M missense 0.00000824●●●●●●
203. 1576697 c.3611A>G p.Y1204C missense 0.00000824●●●●●●
204. 1579226 c.2675A>G p.K892R missense 0.00000824●●●●●●
205. 1554244 c.6860G>A p.R2287Q missense 0.00000824●●●●●●
206. 1582988 c.1204A>G p.I402V missense 0.00000824●●●●●●
207. 1582957 c.1235A>G p.N412S missense 0.00000824●●●●●●
208. 1578480 c.3026T>C p.M1009T missense 0.00000824●●●●●●
209. 1563838 c.4673C>T p.T1558M missense 0.00000824●●●●●●
210. 1584133 c.993-8C>G splice site 0.00000824●●●●●●
211. 1559682 c.5793+4T>C splice site 0.00000824●●●●●●
212. 1554151 c.6953C>G p.A2318G missense 0.00000824●●●●●●
213. 1580474 c.1985-8A>G splice site 0.00000824●●●●●●
214. 1554124 c.6980C>T p.S2327F missense 0.00000824●●●●●●
215. 1580263 c.2181+7G>A splice site 0.00000824●●●●●●
216. 1585146 c.621C>G p.F207L missense 0.00000824●●●●●●
217. 1577151 c.3335G>A p.R1112H missense 0.00000824●●●●●●
218. 1558759 c.5872A>G p.K1958E missense 0.00000824●●●●●●
219. 1558738 c.5893C>T p.H1965Y missense 0.00000824●●●●●●
220. 1577725 c.3299+11T>C splice site 0.00000824●●●●●●
221. 1578639 c.2873-6C>A splice site 0.00000824●●●●●●
222. 1584788 c.850C>T p.R284X nonsense 0.00000824●●●●●●
223. 1557140 c.6158A>C p.E2053A missense 0.00000824●●●●●●
224. 1563300 c.4786-5T>C splice site 0.00000824●●●●●●
225. 1584271 c.944C>T p.A315V missense 0.00000824●●●●●●
226. 1576786 c.3522C>A p.F1174L missense 0.00000824●●●●●●
227. 1557191 c.6107A>G p.Q2036R missense 0.00000824●●●●●●
228. 1585507 c.350C>G p.P117R missense 0.00000824●●●●●●
229. 1578974 c.2812C>G p.P938A missense 0.00000824●●●●●●
230. 1554766 c.6592A>G p.K2198E missense 0.00000824●●●●●●
231. 1586819 c.269+8A>G splice site 0.00000824●●●●●●
232. 1561673 c.5379C>G splice site 0.00000824●●●●●●
233. 1585586 c.271G>T p.A91S missense 0.00000824●●●●●●
234. 1583057 c.1135G>A p.E379K missense 0.00000824●●●●●●
235. 1563283 c.4798G>T p.E1600X nonsense 0.00000824●●●●●●
236. 1563157 c.4924C>T p.P1642S missense 0.00000824●●●●●●
237. 1582919 c.1273C>T p.P425S missense 0.00000824●●●●●●
238. 1586837 c.259G>A p.V87I missense 0.00000824●●●●●●
239. 1584984 c.654G>A splice site 0.00000824●●●●●●
240. 1584938 c.700A>G p.M234V missense 0.00000824●●●●●●
241. 1582607 c.1387C>G p.P463A missense 0.00000824●●●●●●
242. 1577176 c.3310G>A p.D1104N missense 0.00000824●●●●●●
243. 1559720 c.5759A>G p.Y1920C missense 0.00000824●●●●●●
244. 1582979 c.1213C>T p.L405F missense 0.00000824●●●●●●
245. 1584323 c.892G>T p.D298Y missense 0.00000824●●●●●●
246. 1576829 c.3479G>A p.R1160H missense 0.00000824●●●●●●
247. 1558685 c.5946G>C p.Q1982H missense 0.00000824●●●●●●
248. 1584012 c.1098+8A>T splice site 0.00000824●●●●●●
249. 1579077 c.2709C>A p.S903R missense 0.00000824●●●●●●
250. 1556900 c.6305A>T p.Y2102F missense 0.00000824●●●●●●
251. 1579503 c.2550T>C p.Y850Y splice site 0.00000824●●●●●●
252. 1562690 c.5099delG p.G1700Vfs*35 frameshift 0.00000824●●●●●●
253. 1577125 c.3361A>G p.N1121D missense 0.00000824●●●●●●
254. 1561815 c.5376+5G>A splice site 0.00000824●●●●●●
255. 1586936 c.160G>A p.V54M missense 0.00000824●●●●●●
256. 1584066 c.1052A>T p.Y351F missense 0.00000824●●●●●●
257. 1579263 c.2638C>T p.R880C missense 0.00000824●●●●●●
258. 1576740 c.3568T>A p.C1190S missense 0.00000824●●●●●●
259. 1584922 c.716A>T p.Y239F missense 0.00000824●●●●●●
260. 1583018 c.1174C>T p.P392S missense 0.00000824●●●●●●
261. 1578588 c.2918G>A p.C973Y missense 0.00000824●●●●●●
262. 1578567 c.2939G>A p.R980H missense 0.00000824●●●●●●
263. 1564375 c.4420A>G p.M1474V missense 0.00000824●●●●●●
264. 1580265 c.2181+5delG splice site 0.00000824●●●●●●
265. 1554256 c.6854-6_6854-5delCC splice site 0.00000824●●●●●●
266. 1585163 c.604C>G p.P202A missense 0.00000824●●●●●●
267. 1582633 c.1361A>G p.Y454C missense 0.00000824●●●●●●
268. 1562753 c.5036A>C p.Y1679S missense 0.00000824●●●●●●
269. 1554186 c.6918C>G p.H2306Q missense 0.00000824●●●●●●
270. 1554854 c.6511-7C>T splice site 0.00000824●●●●●●
271. 1554138 c.6966G>C p.E2322D missense 0.00000824●●●●●●
272. 1577155 c.3331C>A p.Q1111K missense 0.00000824●●●●●●
273. 1558760 c.5871C>G p.D1957E missense 0.00000824●●●●●●
274. 1579217 c.2679+5G>T splice site 0.00000824●●●●●●
275. 1578644 c.2873-11_2873-8dupCTAC splice site 0.00000824●●●●●●
276. 1557069 c.6227+2T>C essential splice site 0.00000824●●●●●●
277. 1584887 c.751G>T p.D251Y missense 0.00000824●●●●●●
278. 1576867 c.3447-6G>C splice site 0.00000824●●●●●●
279. 1557168 c.6130A>G p.T2044A missense 0.00000824●●●●●●
280. 1565204 c.4018C>G p.L1340V missense 0.00000824●●●●●●
281. 1584277 c.938A>G p.K313R missense 0.00000824●●●●●●
282. 1554749 c.6609C>G p.N2203K missense 0.00000824●●●●●●
283. 1584238 c.977A>G p.H326R missense 0.00000824●●●●●●
284. 1576796 c.3512A>G p.E1171G missense 0.00000824●●●●●●
285. 1586887 c.209T>C p.I70T missense 0.00000824●●●●●●
286. 1583073 c.1119T>G p.D373E missense 0.00000824●●●●●●
287. 1578980 c.2806T>C p.F936L missense 0.00000824●●●●●●
288. 1565067 c.4040A>T p.D1347V missense 0.00000824●●●●●●
289. 1554795 c.6563T>C p.L2188S missense 0.00000824●●●●●●
290. 1582922 c.1270A>G p.I424V missense 0.00000824●●●●●●
291. 1563729 c.4782T>G p.C1594W missense 0.00000824●●●●●●
292. 1583100 c.1099-7T>A splice site 0.00000824●●●●●●
293. 1563159 c.4922G>A p.R1641Q missense 0.00000824●●●●●●
294. 1554237 c.6867C>G p.D2289E missense 0.00000824●●●●●●
295. 1556830 c.6369+6dupT splice site 0.00000824●●●●●●
296. 1561934 c.5262T>G p.Y1754X nonsense 0.00000824●●●●●●
297. 1585589 c.270-2A>G essential splice site 0.00000824●●●●●●
298. 1584976 c.662A>T p.N221I missense 0.00000824●●●●●●
299. 1584952 c.686A>G p.Q229R missense 0.00000824●●●●●●
300. 1582610 c.1384C>T p.R462W missense 0.00000824●●●●●●
301. 1577181 c.3305C>A p.T1102K missense 0.00000824●●●●●●
302. 1562678 c.5111C>A p.A1704D missense 0.00000824●●●●●●
303. 1577097 c.3389A>G p.N1130S missense 0.00000824●●●●●●
304. 1558750 c.5881A>G p.I1961V missense 0.00000824●●●●●●
305. 1576856 c.3452G>A p.R1151Q missense 0.00000824●●●●●●
306. 1584115 c.1003C>T p.P335S missense 0.00000824●●●●●●
307. 1586938 c.158T>C p.F53S missense 0.00000824●●●●●●
308. 1584101 c.1017C>A p.F339L missense 0.00000824●●●●●●
309. 1579595 c.2458C>T p.R820C missense 0.00000824●●●●●●
310. 1576751 c.3557T>C p.L1186P missense 0.00000824●●●●●●
311. 1576458 c.3691C>T p.R1231C missense 0.00000824●●●●●●
312. 1556942 c.6263A>G p.N2088S missense 0.00000824●●●●●●
313. 1579615 c.2438C>T p.T813I missense 0.00000824●●●●●●
314. 1563293 c.4788G>A splice site 0.00000824●●●●●●
315. 1578968 c.2818A>G p.I940V missense 0.00000824●●●●●●
316. 1564611 c.4292C>T p.A1431V missense 0.00000824●●●●●●
317. 1585543 c.314A>G p.N105S missense 0.00000824●●●●●●
318. 1558843 c.5794-6T>C splice site 0.00000824●●●●●●
319. 1585469 c.388A>G p.N130D missense 0.00000824●●●●●●
320. 1583043 c.1149T>G p.F383L missense 0.00000824●●●●●●
321. 1578601 c.2905A>C p.S969R missense 0.00000824●●●●●●
322. 1565024 c.4083A>C p.E1361D missense 0.00000824●●●●●●
323. 1554855 c.6511-8A>C splice site 0.00000824●●●●●●
324. 1554763 c.6595A>G p.I2199V missense 0.00000824●●●●●●
325. 1554255 c.6854-5C>T splice site 0.00000824●●●●●●
326. 1585166 c.601G>A p.A201T missense 0.00000824●●●●●●
327. 1562789 c.5000G>A p.R1667H missense 0.00000824●●●●●●
328. 1554196 c.6908A>G p.E2303G missense 0.00000824●●●●●●
329. 1578906 c.2872+8T>A splice site 0.00000824●●●●●●
330. 1562781 c.5008dupG p.Asp1670GlyfsTer3 frameshift 0.00000824●●●●●●
331. 1577175 c.3311A>T p.D1104V missense 0.00000824●●●●●●
332. 1577166 c.3320G>A p.R1107Q missense 0.00000824●●●●●●
333. 1558765 c.5866C>G p.P1956A missense 0.00000824●●●●●●
334. 1579498 c.2552+3G>A splice site 0.00000824●●●●●●
335. 1584986 c.654-2A>G essential splice site 0.00000824●●●●●●
336. 1580326 c.2125A>G p.I709V missense 0.00000824●●●●●●
337. 1576820 c.3488G>T p.R1163L missense 0.00000824●●●●●●
338. 1557276 c.6022C>T p.R2008X nonsense 0.00000824●●●●●●
339. 1586897 c.199A>G p.R67G missense 0.00000824●●●●●●
340. 1577729 c.3299+7G>T splice site 0.00000824●●●●●●
341. 1565288 c.3934C>T p.P1312S missense 0.00000824●●●●●●
342. 1576489 c.3660T>C splice site 0.00000824●●●●●●
343. 1584289 c.926G>A p.R309H missense 0.00000824●●●●●●
344. 1554983 c.6469G>C p.V2157L missense 0.00000824●●●●●●
345. 1586903 c.193C>T p.H65Y missense 0.00000824●●●●●●
346. 1584027 c.1091C>T p.S364L missense 0.00000824●●●●●●
347. 1579223 c.2678A>G p.E893G missense 0.00000824●●●●●●
348. 1583051 c.1141C>T p.P381S missense 0.00000824●●●●●●
349. 1578986 c.2800C>T p.R934C missense 0.00000824●●●●●●
350. 1565377 c.3845A>T p.Q1282L missense 0.00000824●●●●●●
351. 1556865 c.6340T>G p.F2114V missense 0.00000824●●●●●●
352. 1565213 c.4009dupC p.Gln1337ProfsTer24 frameshift 0.00000824●●●●●●
353. 1563801 c.4710G>T p.K1570N missense 0.00000824●●●●●●
354. 1554239 c.6865G>A p.D2289N missense 0.00000824●●●●●●
355. 1562679 c.5110G>A p.A1704T missense 0.00000824●●●●●●
356. 1584959 c.679C>T p.R227C missense 0.00000824●●●●●●
357. 1582621 c.1373C>T p.A458V missense 0.00000824●●●●●●
358. 1577182 c.3304A>G p.T1102A missense 0.00000824●●●●●●
359. 1562708 c.5081T>G p.I1694S missense 0.00000824●●●●●●
360. 1554142 c.6962A>T p.Q2321L missense 0.00000824●●●●●●
361. 1561957 c.5239A>G p.I1747V missense 0.00000824●●●●●●
362. 1554124 c.6980C>G p.S2327C missense 0.00000824●●●●●●
363. 1554250 c.6854G>C p.G2285A missense 0.00000824●●●●●●
364. 1554253 c.6854-3A>G splice site 0.00000824●●●●●●
365. 1584984 c.654G>T p.K218N missense 0.00000824●●●●●●
366. 1582634 c.1360T>C p.Y454H missense 0.00000824●●●●●●
367. 1558737 c.5894A>G p.H1965R missense 0.00000824●●●●●●
368. 1584829 c.809A>G p.N270S missense 0.00000824●●●●●●
369. 1584772 c.866A>G p.Q289R missense 0.00000824●●●●●●
370. 1564380 c.4415C>G p.T1472R missense 0.00000824●●●●●●
371. 1558753 c.5878A>G p.T1960A missense 0.00000824●●●●●●
372. 1563298 c.4786-3C>T splice site 0.00000824●●●●●●
373. 1584123 c.995A>G p.Y332C missense 0.00000824●●●●●●
374. 1579902 c.2285G>A p.R762H missense 0.00000824●●●●●●
375. 1557173 c.6125C>T p.T2042I missense 0.00000824●●●●●●
376. 1576707 c.3601C>T p.R1201C missense 0.00000824●●●●●●
377. 1557117 c.6181A>G p.N2061D missense 0.00000824●●●●●●
378. 1556960 c.6245A>G p.N2082S missense 0.00000824●●●●●●
379. 1585491 c.366C>G p.I122M missense 0.00000824●●●●●●
380. 1583044 c.1148T>C p.F383S missense 0.00000824●●●●●●
381. 1565064 c.4043T>G p.V1348G missense 0.00000824●●●●●●
382. 1564650 c.4253G>A p.R1418Q missense 0.00000824●●●●●●
383. 1561542 c.5505+5G>C splice site 0.00000824●●●●●●
384. 1585555 c.302A>C p.K101T missense 0.00000824●●●●●●
385. 1562822 c.4967C>G p.T1656S missense 0.00000824●●●●●●
386. 1554204 c.6900C>A p.N2300K missense 0.00000824●●●●●●
387. 1555006 c.6446C>T p.P2149L missense 0.00000824●●●●●●
388. 1554702 c.6650+6C>T splice site 0.00000824●●●●●●
389. 1585238 c.529G>C p.D177H missense 0.00000824●●●●●●
390. 1582907 c.1285A>G p.N429D missense 0.00000824●●●●●●
391. 1563166 c.4915G>A p.V1639I missense 0.00000824●●●●●●
392. 1585162 c.605_606delCT p.Pro202ArgfsTer7 frameshift 0.00000824●●●●●●
393. 1584830 c.808_809delAA p.Asn270TyrfsTer10 frameshift 0.00000824●●●●●●
394. 1584936 c.702G>A p.M234I missense 0.00000824●●●●●●
395. 1577176 c.3310G>T p.D1104Y missense 0.00000824●●●●●●
396. 1577173 c.3313G>A p.E1105K missense 0.00000824●●●●●●
397. 1558786 c.5845C>T p.R1949W missense 0.00000824●●●●●●
398. 1585106 c.653+8A>G splice site 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.