PRPF8 missense variants in ExAC

PRPF8 gene summary
PRPF8 variants in

The table below lists the PRPF8 missense 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. 1582939 c.1253C>G p.T418S missense 0.00022241●●●●●●
2. 1585468 c.389A>G p.N130S missense 0.00016491●●●●●●
3. 1585574 c.283A>G p.M95V missense 0.00014828●●●●●●
4. 1587828 c.38C>T p.P13L missense 0.00014044●●●●●●
5. 1587829 c.37C>G p.P13A missense 0.00012284●●●●●●
6. 1580974 c.1869G>C p.K623N missense 0.00010001●●●●●●
7. 1586965 c.131G>T p.R44L missense 0.00008246●●●●●●
8. 1586930 c.166G>T p.A56S missense 0.00004943●●●●●●
9. 1584855 c.783G>C p.K261N missense 0.00004942●●●●●●
10. 1587810 c.56C>T p.A19V missense 0.00004361●●●●●●
11. 1562032 c.5164A>G p.S1722G missense 0.00004122●●●●●●
12. 1582490 c.1420C>T p.R474C missense 0.00004120●●●●●●
13. 1584958 c.680G>A p.R227H missense 0.00004119●●●●●●
14. 1587807 c.59C>G p.P20R missense 0.00003489●●●●●●
15. 1576444 c.3705G>C p.E1235D missense 0.00003297●●●●●●
16. 1578463 c.3043G>A p.V1015I missense 0.00003296●●●●●●
17. 1584258 c.957G>C p.L319F missense 0.00003295●●●●●●
18. 1587792 c.74T>C p.M25T missense 0.00002607●●●●●●
19. 1554515 c.6740A>G p.N2247S missense 0.00002487●●●●●●
20. 1585328 c.439A>G p.M147V missense 0.00002483●●●●●●
21. 1579989 c.2198C>T p.T733M missense 0.00002479●●●●●●
22. 1584325 c.890A>G p.N297S missense 0.00002476●●●●●●
23. 1583077 c.1115C>T p.P372L missense 0.00002471●●●●●●
24. 1584961 c.677A>T p.Q226L missense 0.00002471●●●●●●
25. 1577092 c.3394A>C p.K1132Q missense 0.00002471●●●●●●
26. 1565234 c.3988A>G p.M1330V missense 0.00002471●●●●●●
27. 1587801 c.65C>T p.P22L missense 0.00001740●●●●●●
28. 1577917 c.3118A>G p.I1040V missense 0.00001660●●●●●●
29. 1564939 c.4168G>A p.A1390T missense 0.00001651●●●●●●
30. 1554446 c.6809T>G p.F2270C missense 0.00001650●●●●●●
31. 1555044 c.6408C>A p.N2136K missense 0.00001650●●●●●●
32. 1565065 c.4042G>A p.V1348I missense 0.00001649●●●●●●
33. 1585472 c.385G>A p.V129I missense 0.00001649●●●●●●
34. 1576457 c.3692G>A p.R1231H missense 0.00001648●●●●●●
35. 1582478 c.1432G>A p.A478T missense 0.00001648●●●●●●
36. 1578613 c.2893G>A p.V965M missense 0.00001648●●●●●●
37. 1554121 c.6983C>T p.A2328V missense 0.00001648●●●●●●
38. 1576452 c.3697G>T p.D1233Y missense 0.00001648●●●●●●
39. 1582627 c.1367T>A p.L456Q missense 0.00001648●●●●●●
40. 1558712 c.5919C>G p.D1973E missense 0.00001648●●●●●●
41. 1584805 c.833A>G p.K278R missense 0.00001648●●●●●●
42. 1557242 c.6056C>T p.P2019L missense 0.00001647●●●●●●
43. 1582960 c.1232T>A p.F411Y missense 0.00001647●●●●●●
44. 1561995 c.5201T>C p.M1734T missense 0.00001647●●●●●●
45. 1583050 c.1142C>T p.P381L missense 0.00001647●●●●●●
46. 1578568 c.2938C>G p.R980G missense 0.00001647●●●●●●
47. 1582969 c.1223C>T p.P408L missense 0.00001647●●●●●●
48. 1577110 c.3376G>A p.V1126I missense 0.00001647●●●●●●
49. 1576785 c.3523G>A p.V1175M missense 0.00001647●●●●●●
50. 1582951 c.1241G>T p.R414L missense 0.00001647●●●●●●
51. 1586909 c.187C>T p.P63S missense 0.00001647●●●●●●
52. 1584043 c.1075A>G p.I359V missense 0.00001647●●●●●●
53. 1578585 c.2921A>G p.N974S missense 0.00001647●●●●●●
54. 1554760 c.6598A>G p.M2200V missense 0.00001647●●●●●●
55. 1554208 c.6896C>T p.A2299V missense 0.00001647●●●●●●
56. 1584233 c.982C>T p.H328Y missense 0.00001647●●●●●●
57. 1583046 c.1146G>C p.E382D missense 0.00001647●●●●●●
58. 1562726 c.5063C>G p.T1688S missense 0.00001647●●●●●●
59. 1584922 c.716A>G p.Y239C missense 0.00001647●●●●●●
60. 1577175 c.3311A>G p.D1104G missense 0.00001647●●●●●●
61. 1587838 c.28C>T p.P10S missense 0.00000881●●●●●●
62. 1587835 c.31G>A p.G11S missense 0.00000880●●●●●●
63. 1587829 c.37C>T p.P13S missense 0.00000877●●●●●●
64. 1587822 c.44C>T p.P15L missense 0.00000875●●●●●●
65. 1587807 c.59C>T p.P20L missense 0.00000872●●●●●●
66. 1587802 c.64C>T p.P22S missense 0.00000870●●●●●●
67. 1587789 c.77C>T p.S26L missense 0.00000869●●●●●●
68. 1582069 c.1706T>C p.V569A missense 0.00000835●●●●●●
69. 1580985 c.1858C>G p.P620A missense 0.00000835●●●●●●
70. 1577958 c.3077A>G p.N1026S missense 0.00000833●●●●●●
71. 1580969 c.1874C>G p.P625R missense 0.00000833●●●●●●
72. 1580939 c.1904G>A p.R635Q missense 0.00000829●●●●●●
73. 1582703 c.1291T>C p.Y431H missense 0.00000829●●●●●●
74. 1582091 c.1684G>A p.V562M missense 0.00000829●●●●●●
75. 1554578 c.6677C>T p.T2226M missense 0.00000829●●●●●●
76. 1586992 c.104G>T p.R35L missense 0.00000829●●●●●●
77. 1582064 c.1711G>T p.A571S missense 0.00000829●●●●●●
78. 1585428 c.429G>T p.Q143H missense 0.00000828●●●●●●
79. 1582114 c.1661C>G p.T554S missense 0.00000828●●●●●●
80. 1585331 c.436T>G p.S146A missense 0.00000828●●●●●●
81. 1582700 c.1294C>T p.R432W missense 0.00000828●●●●●●
82. 1582120 c.1655G>A p.R552H missense 0.00000828●●●●●●
83. 1585318 c.449T>C p.M150T missense 0.00000827●●●●●●
84. 1577860 c.3175A>G p.S1059G missense 0.00000827●●●●●●
85. 1582685 c.1309G>A p.A437T missense 0.00000827●●●●●●
86. 1554488 c.6767A>T p.Y2256F missense 0.00000827●●●●●●
87. 1585317 c.450G>T p.M150I missense 0.00000827●●●●●●
88. 1581925 c.1741A>C p.I581L missense 0.00000826●●●●●●
89. 1577830 c.3205A>G p.N1069D missense 0.00000826●●●●●●
90. 1581927 c.1739A>G p.Y580C missense 0.00000826●●●●●●
91. 1554459 c.6796C>T p.R2266C missense 0.00000826●●●●●●
92. 1585309 c.458G>A p.R153Q missense 0.00000826●●●●●●
93. 1564699 c.4204C>T p.R1402C missense 0.00000826●●●●●●
94. 1577782 c.3253A>G p.I1085V missense 0.00000825●●●●●●
95. 1554106 c.6998T>A p.L2333Q missense 0.00000825●●●●●●
96. 1586968 c.128A>G p.K43R missense 0.00000825●●●●●●
97. 1585454 c.403G>A p.V135I missense 0.00000825●●●●●●
98. 1577793 c.3242C>T p.A1081V missense 0.00000825●●●●●●
99. 1585459 c.398C>A p.P133H missense 0.00000825●●●●●●
100. 1577799 c.3236C>G p.T1079S missense 0.00000825●●●●●●
101. 1577778 c.3257G>A p.R1086H missense 0.00000825●●●●●●
102. 1554100 c.7004C>T p.A2335V missense 0.00000825●●●●●●
103. 1581888 c.1778G>A p.R593Q missense 0.00000825●●●●●●
104. 1555061 c.6391G>A p.V2131M missense 0.00000825●●●●●●
105. 1579924 c.2263C>T p.H755Y missense 0.00000825●●●●●●
106. 1564659 c.4244G>C p.G1415A missense 0.00000825●●●●●●
107. 1554425 c.6830C>A p.S2277Y missense 0.00000825●●●●●●
108. 1577810 c.3225G>T p.Q1075H missense 0.00000825●●●●●●
109. 1584323 c.892G>T p.D298Y missense 0.00000824●●●●●●
110. 1584277 c.938A>G p.K313R missense 0.00000824●●●●●●
111. 1576829 c.3479G>A p.R1160H missense 0.00000824●●●●●●
112. 1576796 c.3512A>G p.E1171G missense 0.00000824●●●●●●
113. 1557168 c.6130A>G p.T2044A missense 0.00000824●●●●●●
114. 1554763 c.6595A>G p.I2199V missense 0.00000824●●●●●●
115. 1586903 c.193C>T p.H65Y missense 0.00000824●●●●●●
116. 1583073 c.1119T>G p.D373E missense 0.00000824●●●●●●
117. 1579077 c.2709C>A p.S903R missense 0.00000824●●●●●●
118. 1565067 c.4040A>T p.D1347V missense 0.00000824●●●●●●
119. 1554795 c.6563T>C p.L2188S missense 0.00000824●●●●●●
120. 1582979 c.1213C>T p.L405F missense 0.00000824●●●●●●
121. 1586938 c.158T>C p.F53S missense 0.00000824●●●●●●
122. 1563729 c.4782T>G p.C1594W missense 0.00000824●●●●●●
123. 1554237 c.6867C>G p.D2289E missense 0.00000824●●●●●●
124. 1585469 c.388A>G p.N130D missense 0.00000824●●●●●●
125. 1578567 c.2939G>A p.R980H missense 0.00000824●●●●●●
126. 1564375 c.4420A>G p.M1474V missense 0.00000824●●●●●●
127. 1584984 c.654G>T p.K218N missense 0.00000824●●●●●●
128. 1582633 c.1361A>G p.Y454C missense 0.00000824●●●●●●
129. 1577181 c.3305C>A p.T1102K missense 0.00000824●●●●●●
130. 1584829 c.809A>G p.N270S missense 0.00000824●●●●●●
131. 1577155 c.3331C>A p.Q1111K missense 0.00000824●●●●●●
132. 1577097 c.3389A>G p.N1130S missense 0.00000824●●●●●●
133. 1558737 c.5894A>G p.H1965R missense 0.00000824●●●●●●
134. 1576697 c.3611A>G p.Y1204C missense 0.00000824●●●●●●
135. 1579595 c.2458C>T p.R820C missense 0.00000824●●●●●●
136. 1576751 c.3557T>C p.L1186P missense 0.00000824●●●●●●
137. 1556942 c.6263A>G p.N2088S missense 0.00000824●●●●●●
138. 1584238 c.977A>G p.H326R missense 0.00000824●●●●●●
139. 1585555 c.302A>C p.K101T missense 0.00000824●●●●●●
140. 1578980 c.2806T>C p.F936L missense 0.00000824●●●●●●
141. 1583043 c.1149T>G p.F383L missense 0.00000824●●●●●●
142. 1578601 c.2905A>C p.S969R missense 0.00000824●●●●●●
143. 1565024 c.4083A>C p.E1361D missense 0.00000824●●●●●●
144. 1579615 c.2438C>T p.T813I missense 0.00000824●●●●●●
145. 1582922 c.1270A>G p.I424V missense 0.00000824●●●●●●
146. 1563157 c.4924C>T p.P1642S missense 0.00000824●●●●●●
147. 1554196 c.6908A>G p.E2303G missense 0.00000824●●●●●●
148. 1554142 c.6962A>T p.Q2321L missense 0.00000824●●●●●●
149. 1577175 c.3311A>T p.D1104V missense 0.00000824●●●●●●
150. 1558786 c.5845C>T p.R1949W missense 0.00000824●●●●●●
151. 1586897 c.199A>G p.R67G missense 0.00000824●●●●●●
152. 1558759 c.5872A>G p.K1958E missense 0.00000824●●●●●●
153. 1565288 c.3934C>T p.P1312S missense 0.00000824●●●●●●
154. 1584959 c.679C>T p.R227C missense 0.00000824●●●●●●
155. 1582610 c.1384C>T p.R462W missense 0.00000824●●●●●●
156. 1584936 c.702G>A p.M234I missense 0.00000824●●●●●●
157. 1557173 c.6125C>T p.T2042I missense 0.00000824●●●●●●
158. 1555006 c.6446C>T p.P2149L missense 0.00000824●●●●●●
159. 1584289 c.926G>A p.R309H missense 0.00000824●●●●●●
160. 1576856 c.3452G>A p.R1151Q missense 0.00000824●●●●●●
161. 1558684 c.5947C>T p.L1983F missense 0.00000824●●●●●●
162. 1584101 c.1017C>A p.F339L missense 0.00000824●●●●●●
163. 1584027 c.1091C>T p.S364L missense 0.00000824●●●●●●
164. 1579223 c.2678A>G p.E893G missense 0.00000824●●●●●●
165. 1576458 c.3691C>T p.R1231C missense 0.00000824●●●●●●
166. 1556865 c.6340T>G p.F2114V missense 0.00000824●●●●●●
167. 1565377 c.3845A>T p.Q1282L missense 0.00000824●●●●●●
168. 1554983 c.6469G>C p.V2157L missense 0.00000824●●●●●●
169. 1564611 c.4292C>T p.A1431V missense 0.00000824●●●●●●
170. 1563801 c.4710G>T p.K1570N missense 0.00000824●●●●●●
171. 1554239 c.6865G>A p.D2289N missense 0.00000824●●●●●●
172. 1564380 c.4415C>G p.T1472R missense 0.00000824●●●●●●
173. 1585491 c.366C>G p.I122M missense 0.00000824●●●●●●
174. 1562678 c.5111C>A p.A1704D missense 0.00000824●●●●●●
175. 1554124 c.6980C>G p.S2327C missense 0.00000824●●●●●●
176. 1585238 c.529G>C p.D177H missense 0.00000824●●●●●●
177. 1585146 c.621C>G p.F207L missense 0.00000824●●●●●●
178. 1582634 c.1360T>C p.Y454H missense 0.00000824●●●●●●
179. 1562753 c.5036A>C p.Y1679S missense 0.00000824●●●●●●
180. 1577182 c.3304A>G p.T1102A missense 0.00000824●●●●●●
181. 1577166 c.3320G>A p.R1107Q missense 0.00000824●●●●●●
182. 1558738 c.5893C>T p.H1965Y missense 0.00000824●●●●●●
183. 1556960 c.6245A>G p.N2082S missense 0.00000824●●●●●●
184. 1576820 c.3488G>T p.R1163L missense 0.00000824●●●●●●
185. 1579902 c.2285G>A p.R762H missense 0.00000824●●●●●●
186. 1557117 c.6181A>G p.N2061D missense 0.00000824●●●●●●
187. 1554250 c.6854G>C p.G2285A missense 0.00000824●●●●●●
188. 1586837 c.259G>A p.V87I missense 0.00000824●●●●●●
189. 1580326 c.2125A>G p.I709V missense 0.00000824●●●●●●
190. 1577125 c.3361A>G p.N1121D missense 0.00000824●●●●●●
191. 1585586 c.271G>T p.A91S missense 0.00000824●●●●●●
192. 1583051 c.1141C>T p.P381S missense 0.00000824●●●●●●
193. 1578986 c.2800C>T p.R934C missense 0.00000824●●●●●●
194. 1565064 c.4043T>G p.V1348G missense 0.00000824●●●●●●
195. 1582907 c.1285A>G p.N429D missense 0.00000824●●●●●●
196. 1563159 c.4922G>A p.R1641Q missense 0.00000824●●●●●●
197. 1554204 c.6900C>A p.N2300K missense 0.00000824●●●●●●
198. 1554151 c.6953C>G p.A2318G missense 0.00000824●●●●●●
199. 1577176 c.3310G>T p.D1104Y missense 0.00000824●●●●●●
200. 1559720 c.5759A>G p.Y1920C missense 0.00000824●●●●●●
201. 1584250 c.965A>G p.N322S missense 0.00000824●●●●●●
202. 1582621 c.1373C>T p.A458V missense 0.00000824●●●●●●
203. 1557191 c.6107A>G p.Q2036R missense 0.00000824●●●●●●
204. 1562679 c.5110G>A p.A1704T missense 0.00000824●●●●●●
205. 1584772 c.866A>G p.Q289R missense 0.00000824●●●●●●
206. 1584316 c.899A>G p.N300S missense 0.00000824●●●●●●
207. 1577065 c.3421C>G p.R1141G missense 0.00000824●●●●●●
208. 1558685 c.5946G>C p.Q1982H missense 0.00000824●●●●●●
209. 1584123 c.995A>G p.Y332C missense 0.00000824●●●●●●
210. 1579226 c.2675A>G p.K892R missense 0.00000824●●●●●●
211. 1576707 c.3601C>T p.R1201C missense 0.00000824●●●●●●
212. 1556867 c.6338A>T p.K2113M missense 0.00000824●●●●●●
213. 1584115 c.1003C>T p.P335S missense 0.00000824●●●●●●
214. 1582988 c.1204A>G p.I402V missense 0.00000824●●●●●●
215. 1564650 c.4253G>A p.R1418Q missense 0.00000824●●●●●●
216. 1563838 c.4673C>T p.T1558M missense 0.00000824●●●●●●
217. 1554244 c.6860G>A p.R2287Q missense 0.00000824●●●●●●
218. 1585507 c.350C>G p.P117R missense 0.00000824●●●●●●
219. 1583044 c.1148T>C p.F383S missense 0.00000824●●●●●●
220. 1562708 c.5081T>G p.I1694S missense 0.00000824●●●●●●
221. 1554124 c.6980C>T p.S2327F missense 0.00000824●●●●●●
222. 1585163 c.604C>G p.P202A missense 0.00000824●●●●●●
223. 1562789 c.5000G>A p.R1667H missense 0.00000824●●●●●●
224. 1584938 c.700A>G p.M234V missense 0.00000824●●●●●●
225. 1584887 c.751G>T p.D251Y missense 0.00000824●●●●●●
226. 1577173 c.3313G>A p.E1105K missense 0.00000824●●●●●●
227. 1558760 c.5871C>G p.D1957E missense 0.00000824●●●●●●
228. 1577151 c.3335G>A p.R1112H missense 0.00000824●●●●●●
229. 1558750 c.5881A>G p.I1961V missense 0.00000824●●●●●●
230. 1584271 c.944C>T p.A315V missense 0.00000824●●●●●●
231. 1580350 c.2101A>G p.I701V missense 0.00000824●●●●●●
232. 1576821 c.3487C>T p.R1163W missense 0.00000824●●●●●●
233. 1576786 c.3522C>A p.F1174L missense 0.00000824●●●●●●
234. 1557140 c.6158A>C p.E2053A missense 0.00000824●●●●●●
235. 1578974 c.2812C>G p.P938A missense 0.00000824●●●●●●
236. 1554766 c.6592A>G p.K2198E missense 0.00000824●●●●●●
237. 1586936 c.160G>A p.V54M missense 0.00000824●●●●●●
238. 1578968 c.2818A>G p.I940V missense 0.00000824●●●●●●
239. 1586887 c.209T>C p.I70T missense 0.00000824●●●●●●
240. 1583057 c.1135G>A p.E379K missense 0.00000824●●●●●●
241. 1579066 c.2720C>T p.P907L missense 0.00000824●●●●●●
242. 1582957 c.1235A>G p.N412S missense 0.00000824●●●●●●
243. 1578480 c.3026T>C p.M1009T missense 0.00000824●●●●●●
244. 1563166 c.4915G>A p.V1639I missense 0.00000824●●●●●●
245. 1554749 c.6609C>G p.N2203K missense 0.00000824●●●●●●
246. 1584976 c.662A>T p.N221I missense 0.00000824●●●●●●
247. 1582607 c.1387C>G p.P463A missense 0.00000824●●●●●●
248. 1577176 c.3310G>A p.D1104N missense 0.00000824●●●●●●
249. 1561957 c.5239A>G p.I1747V missense 0.00000824●●●●●●
250. 1584922 c.716A>T p.Y239F missense 0.00000824●●●●●●
251. 1584066 c.1052A>T p.Y351F missense 0.00000824●●●●●●
252. 1579263 c.2638C>T p.R880C missense 0.00000824●●●●●●
253. 1576740 c.3568T>A p.C1190S missense 0.00000824●●●●●●
254. 1556900 c.6305A>T p.Y2102F missense 0.00000824●●●●●●
255. 1585543 c.314A>G p.N105S missense 0.00000824●●●●●●
256. 1583018 c.1174C>T p.P392S missense 0.00000824●●●●●●
257. 1578588 c.2918G>A p.C973Y missense 0.00000824●●●●●●
258. 1585166 c.601G>A p.A201T missense 0.00000824●●●●●●
259. 1562822 c.4967C>G p.T1656S missense 0.00000824●●●●●●
260. 1554186 c.6918C>G p.H2306Q missense 0.00000824●●●●●●
261. 1554138 c.6966G>C p.E2322D missense 0.00000824●●●●●●
262. 1582919 c.1273C>T p.P425S missense 0.00000824●●●●●●
263. 1558753 c.5878A>G p.T1960A missense 0.00000824●●●●●●
264. 1565204 c.4018C>G p.L1340V missense 0.00000824●●●●●●
265. 1584952 c.686A>G p.Q229R missense 0.00000824●●●●●●
266. 1558765 c.5866C>G p.P1956A 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.