DSP non-truncating variants in ExAC

DSP gene summary
DSP variants in DCM

The table below lists the DSP non-truncating variants found in the ExAC population database with a mean allelic frequency (MAF) less than 0.0001, classified for this study as a rare variant. 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. 7580913 c.4490G>A p.R1497Q missense 0.00009986●●●●●●
2. 7583814 c.6319G>C p.V2107L missense 0.00009914●●●●●●
3. 7576579 c.2683T>C p.Y895H missense 0.00009887●●●●●●
4. 7580039 c.3616T>A p.L1206I missense 0.00009158●●●●●●
5. 7580259 c.3836C>T p.A1279V missense 0.00009142●●●●●●
6. 7580124 c.3701A>G p.N1234S missense 0.00009136●●●●●●
7. 7580540 c.4117A>G p.T1373A missense 0.00009109●●●●●●
8. 7581324 c.4901G>A p.R1634Q missense 0.00008416●●●●●●
9. 7581747 c.5324G>T p.R1775I missense 0.00008338●●●●●●
10. 7579698 c.3275C>T p.S1092L missense 0.00008302●●●●●●
11. 7580441 c.4018C>T p.R1340C missense 0.00008295●●●●●●
12. 7574476 c.2288A>G p.Y763C missense 0.00008269●●●●●●
13. 7580598 c.4175G>A p.R1392Q missense 0.00008266●●●●●●
14. 7583946 c.6451C>T p.R2151W missense 0.00008262●●●●●●
15. 7581645 c.5222C>T p.A1741V missense 0.00008256●●●●●●
16. 7565703 c.889G>A p.D297N missense 0.00008240●●●●●●
17. 7583112 c.5617C>T p.R1873C missense 0.00008239●●●●●●
18. 7574952 c.2360A>G p.Y787C missense 0.00008236●●●●●●
19. 7577197 c.2799G>C p.L933F missense 0.00007513●●●●●●
20. 7580937 c.4514C>T p.A1505V missense 0.00007491●●●●●●
21. 7580129 c.3706A>G p.R1236G missense 0.00007478●●●●●●
22. 7580445 c.4022G>A p.R1341H missense 0.00007466●●●●●●
23. 7566613 c.943C>T p.R315C missense 0.00007456●●●●●●
24. 7582881 c.5386A>G p.N1796D missense 0.00007438●●●●●●
25. 7583840 c.6345G>T p.L2115F missense 0.00007437●●●●●●
26. 7581644 c.5221G>A p.A1741T missense 0.00007431●●●●●●
27. 7578716 c.3005G>A p.R1002Q missense 0.00007418●●●●●●
28. 7567645 c.1103T>C p.I368T missense 0.00007413●●●●●●
29. 7581309 c.4886G>T p.S1629I missense 0.00006747●●●●●●
30. 7579985 c.3562T>C p.Y1188H missense 0.00006715●●●●●●
31. 7581338 c.4915G>A p.V1639M missense 0.00006704●●●●●●
32. 7581419 c.4996C>T p.R1666W missense 0.00006658●●●●●●
33. 7580808 c.4385G>T p.S1462I missense 0.00006626●●●●●●
34. 7582993 c.5498A>G p.E1833G missense 0.00006610●●●●●●
35. 7576562 c.2666G>A p.R889K missense 0.00006591●●●●●●
36. 7562930 c.643G>A p.E215K missense 0.00006589●●●●●●
37. 7542186 c.38C>T p.T13I missense 0.00006508●●●●●●
38. 7542203 c.55C>T p.R19C missense 0.00006007●●●●●●
39. 7581786 c.5363A>G p.Q1788R missense 0.00005925●●●●●●
40. 7579974 c.3551G>A p.R1184Q missense 0.00005887●●●●●●
41. 7585980 c.8485_8496delTCCCGCTCGGGA p.Ser2829_Gly2832del inframe 0.00005849●●●●●●
42. 7579569 c.3146C>T p.S1049L missense 0.00005836●●●●●●
43. 7580981 c.4558A>G p.S1520G missense 0.00005826●●●●●●
44. 7581485 c.5062G>A p.A1688T missense 0.00005822●●●●●●
45. 7580379 c.3956C>G p.T1319S missense 0.00005810●●●●●●
46. 7580796 c.4373G>A p.R1458Q missense 0.00005793●●●●●●
47. 7584213 c.6718C>G p.Q2240E missense 0.00005772●●●●●●
48. 7574382 c.2194A>G p.N732D missense 0.00005769●●●●●●
49. 7583008 c.5513G>A p.R1838H missense 0.00005767●●●●●●
50. 7575559 c.2468C>T p.S823L missense 0.00005766●●●●●●
51. 7584060 c.6565C>T p.R2189W missense 0.00005766●●●●●●
52. 7558419 c.344A>G p.N115S missense 0.00005766●●●●●●
53. 7559557 c.521G>T p.C174F missense 0.00005765●●●●●●
54. 7574937 c.2345A>G p.D782G missense 0.00005765●●●●●●
55. 7569500 c.1501G>A p.V501I missense 0.00005765●●●●●●
56. 7542194 c.46C>A p.R16S missense 0.00005609●●●●●●
57. 7586002 c.8507G>A p.G2836E missense 0.00005016●●●●●●
58. 7586000 c.8505_8506insGGATCTCGCTCC p.Ser2835_Gly2836insGlySerArgSer inframe 0.00005011●●●●●●
59. 7580981 c.4558A>T p.S1520C missense 0.00004994●●●●●●
60. 7579761 c.3338G>A p.R1113Q missense 0.00004991●●●●●●
61. 7580494 c.4071G>C p.E1357D missense 0.00004975●●●●●●
62. 7585312 c.7817G>A p.S2606N missense 0.00004957●●●●●●
63. 7585668 c.8173C>T p.R2725C missense 0.00004948●●●●●●
64. 7572189 c.2018A>C p.Q673P missense 0.00004945●●●●●●
65. 7576540 c.2644G>A p.E882K missense 0.00004944●●●●●●
66. 7565730 c.916G>A p.A306T missense 0.00004944●●●●●●
67. 7562954 c.667G>A p.G223S missense 0.00004942●●●●●●
68. 7542305 c.157T>C p.S53P missense 0.00004444●●●●●●
69. 7577261 c.2863G>A p.A955T missense 0.00004280●●●●●●
70. 7579557 c.3134G>A p.R1045Q missense 0.00004176●●●●●●
71. 7579748 c.3325G>A p.E1109K missense 0.00004157●●●●●●
72. 7579727 c.3304G>A p.G1102S missense 0.00004154●●●●●●
73. 7585410 c.7915C>T p.R2639W missense 0.00004146●●●●●●
74. 7583742 c.6247C>T p.R2083C missense 0.00004146●●●●●●
75. 7585459 c.7964C>G p.A2655G missense 0.00004145●●●●●●
76. 7585968 c.8473_8484delTCCCGCTCCGGC p.Ser2825_Gly2828del inframe 0.00004141●●●●●●
77. 7583289 c.5794C>T p.R1932C missense 0.00004139●●●●●●
78. 7584859 c.7364C>T p.T2455I missense 0.00004132●●●●●●
79. 7583911 c.6416A>G p.N2139S missense 0.00004132●●●●●●
80. 7583974 c.6479G>A p.R2160Q missense 0.00004126●●●●●●
81. 7568821 c.1418A>G p.Q473R missense 0.00004124●●●●●●
82. 7585612 c.8117A>T p.K2706M missense 0.00004123●●●●●●
83. 7575713 c.2622C>G p.I874M missense 0.00004121●●●●●●
84. 7578715 c.3004C>T p.R1002W missense 0.00004121●●●●●●
85. 7572208 c.2037A>G p.I679M missense 0.00004120●●●●●●
86. 7583113 c.5618G>A p.R1873H missense 0.00004120●●●●●●
87. 7585201 c.7706C>T p.T2569I missense 0.00004119●●●●●●
88. 7569425 c.1426G>A p.V476M missense 0.00004119●●●●●●
89. 7584184 c.6689C>T p.P2230L missense 0.00004119●●●●●●
90. 7578093 c.2959T>A p.S987T missense 0.00004119●●●●●●
91. 7583017 c.5522C>T p.S1841L missense 0.00004119●●●●●●
92. 7558375 c.300A>T p.Q100H missense 0.00004118●●●●●●
93. 7558389 c.314G>A p.R105Q missense 0.00004118●●●●●●
94. 7575660 c.2569G>A p.G857S missense 0.00004118●●●●●●
95. 7569467 c.1468C>T p.R490C missense 0.00004118●●●●●●
96. 7569533 c.1534A>G p.I512V missense 0.00004118●●●●●●
97. 7585084 c.7589T>C p.I2530T missense 0.00004118●●●●●●
98. 7569468 c.1469G>A p.R490H missense 0.00004118●●●●●●
99. 7542294 c.146C>T p.T49I missense 0.00004074●●●●●●
100. 7542285 c.137G>A p.G46D missense 0.00003814●●●●●●
101. 7542284 c.136G>A p.G46S missense 0.00003796●●●●●●
102. 7542227 c.79C>T p.R27C missense 0.00003739●●●●●●
103. 7542279 c.131G>C p.R44P missense 0.00003694●●●●●●
104. 7579953 c.3530T>A p.L1177Q missense 0.00003359●●●●●●
105. 7581096 c.4673G>A p.R1558Q missense 0.00003336●●●●●●
106. 7581033 c.4610G>A p.R1537H missense 0.00003331●●●●●●
107. 7580988 c.4565C>T p.T1522M missense 0.00003330●●●●●●
108. 7580187 c.3764G>A p.R1255K missense 0.00003329●●●●●●
109. 7580183 c.3760G>A p.V1254I missense 0.00003329●●●●●●
110. 7581420 c.4997G>A p.R1666Q missense 0.00003329●●●●●●
111. 7580300 c.3877A>G p.I1293V missense 0.00003321●●●●●●
112. 7583728 c.6233T>C p.I2078T missense 0.00003321●●●●●●
113. 7580442 c.4019G>A p.R1340H missense 0.00003318●●●●●●
114. 7580837 c.4414G>T p.A1472S missense 0.00003318●●●●●●
115. 7585347 c.7852C>T p.P2618S missense 0.00003312●●●●●●
116. 7581583 c.5160_5162delAGA p.Glu1723del inframe 0.00003311●●●●●●
117. 7566704 c.1034A>G p.D345G missense 0.00003311●●●●●●
118. 7583376 c.5881G>A p.V1961I missense 0.00003309●●●●●●
119. 7585537 c.8042A>C p.D2681A missense 0.00003308●●●●●●
120. 7581606 c.5183G>A p.R1728K missense 0.00003307●●●●●●
121. 7583892 c.6397G>A p.G2133S missense 0.00003306●●●●●●
122. 7572120 c.1949A>G p.N650S missense 0.00003306●●●●●●
123. 7580656 c.4233G>C p.R1411S missense 0.00003306●●●●●●
124. 7583959 c.6464A>G p.D2155G missense 0.00003302●●●●●●
125. 7584260 c.6765G>T p.Q2255H missense 0.00003301●●●●●●
126. 7585804 c.8309A>G p.Y2770C missense 0.00003301●●●●●●
127. 7585728 c.8233A>G p.I2745V missense 0.00003301●●●●●●
128. 7585667 c.8172G>T p.Q2724H missense 0.00003299●●●●●●
129. 7585885 c.8390T>C p.I2797T missense 0.00003299●●●●●●
130. 7571731 c.1817G>A p.R606Q missense 0.00003298●●●●●●
131. 7571754 c.1840G>A p.D614N missense 0.00003298●●●●●●
132. 7585869 c.8374T>A p.S2792T missense 0.00003298●●●●●●
133. 7576667 c.2771T>C p.M924T missense 0.00003298●●●●●●
134. 7582909 c.5414G>A p.C1805Y missense 0.00003297●●●●●●
135. 7582907 c.5412G>T p.Q1804H missense 0.00003297●●●●●●
136. 7576571 c.2675G>A p.R892H missense 0.00003296●●●●●●
137. 7576631 c.2735T>C p.L912S missense 0.00003296●●●●●●
138. 7584528 c.7033G>C p.G2345R missense 0.00003296●●●●●●
139. 7570725 c.1630A>C p.M544L missense 0.00003295●●●●●●
140. 7575640 c.2549_2550insTCT p.D850delinsDL inframe 0.00003295●●●●●●
141. 7575631 c.2540C>G p.P847R missense 0.00003295●●●●●●
142. 7575643 c.2552T>A p.L851Q missense 0.00003295●●●●●●
143. 7584061 c.6566G>A p.R2189Q missense 0.00003295●●●●●●
144. 7558415 c.340G>A p.A114T missense 0.00003295●●●●●●
145. 7563982 c.740C>T p.A247V missense 0.00003295●●●●●●
146. 7542209 c.61G>A p.E21K missense 0.00003129●●●●●●
147. 7542263 c.115A>G p.R39G missense 0.00003020●●●●●●
148. 7542255 c.107G>T p.G36V missense 0.00002863●●●●●●
149. 7542255 c.107G>C p.G36A missense 0.00002863●●●●●●
150. 7542252 c.104G>C p.G35A missense 0.00002714●●●●●●
151. 7556039 c.259C>G p.L87V missense 0.00002558●●●●●●
152. 7586085 c.8590T>C p.F2864L missense 0.00002525●●●●●●
153. 7580023 c.3600T>G p.N1200K missense 0.00002506●●●●●●
154. 7585977 c.8482G>A p.G2828S missense 0.00002503●●●●●●
155. 7581119 c.4696C>G p.L1566V missense 0.00002503●●●●●●
156. 7581089 c.4666A>G p.I1556V missense 0.00002501●●●●●●
157. 7581080 c.4657G>A p.D1553N missense 0.00002500●●●●●●
158. 7579590 c.3167A>G p.K1056R missense 0.00002497●●●●●●
159. 7581414 c.4991T>G p.L1664R missense 0.00002497●●●●●●
160. 7579811 c.3388G>A p.D1130N missense 0.00002497●●●●●●
161. 7580197 c.3774C>A p.D1258E missense 0.00002497●●●●●●
162. 7580223 c.3800G>A p.R1267Q missense 0.00002496●●●●●●
163. 7580189 c.3766C>T p.L1256F missense 0.00002496●●●●●●
164. 7580894 c.4471G>A p.D1491N missense 0.00002495●●●●●●
165. 7581486 c.5063C>T p.A1688V missense 0.00002495●●●●●●
166. 7583718 c.6223C>T p.R2075W missense 0.00002494●●●●●●
167. 7579746 c.3323A>G p.N1108S missense 0.00002494●●●●●●
168. 7579649 c.3226C>T p.L1076F missense 0.00002491●●●●●●
169. 7580328 c.3905G>A p.R1302H missense 0.00002490●●●●●●
170. 7580418 c.3995C>T p.A1332V missense 0.00002488●●●●●●
171. 7585489 c.7994C>T p.T2665M missense 0.00002486●●●●●●
172. 7580525 c.4102A>G p.T1368A missense 0.00002486●●●●●●
173. 7566614 c.944G>T p.R315L missense 0.00002485●●●●●●
174. 7583550 c.6055G>T p.A2019S missense 0.00002484●●●●●●
175. 7566616 c.946A>G p.M316V missense 0.00002484●●●●●●
176. 7583290 c.5795G>A p.R1932H missense 0.00002483●●●●●●
177. 7585539 c.8044C>G p.Q2682E missense 0.00002481●●●●●●
178. 7568095 c.1222A>C p.N408H missense 0.00002480●●●●●●
179. 7566631 c.961G>C p.V321L missense 0.00002480●●●●●●
180. 7559460 c.424C>T p.L142F missense 0.00002477●●●●●●
181. 7583454 c.5959G>A p.D1987N missense 0.00002476●●●●●●
182. 7585896 c.8401C>G p.R2801G missense 0.00002475●●●●●●
183. 7585613 c.8118G>C p.K2706N missense 0.00002474●●●●●●
184. 7568026 c.1153G>T p.A385S missense 0.00002474●●●●●●
185. 7571730 c.1816C>T p.R606W missense 0.00002474●●●●●●
186. 7559632 c.596G>A p.R199K missense 0.00002474●●●●●●
187. 7582912 c.5417C>G p.T1806S missense 0.00002473●●●●●●
188. 7565676 c.862G>A p.D288N missense 0.00002472●●●●●●
189. 7568677 c.1274G>A p.R425Q missense 0.00002472●●●●●●
190. 7584612 c.7117G>A p.A2373T missense 0.00002472●●●●●●
191. 7574372 c.2184T>A p.D728E missense 0.00002472●●●●●●
192. 7576616 c.2720G>A p.R907H missense 0.00002472●●●●●●
193. 7572194 c.2023A>G p.I675V missense 0.00002472●●●●●●
194. 7572201 c.2030G>A p.R677K missense 0.00002472●●●●●●
195. 7584534 c.7039A>G p.I2347V missense 0.00002472●●●●●●
196. 7559515 c.479G>A p.R160Q missense 0.00002471●●●●●●
197. 7558382 c.307C>T p.R103W missense 0.00002471●●●●●●
198. 7578075 c.2941A>G p.K981E missense 0.00002471●●●●●●
199. 7569561 c.1562A>C p.D521A missense 0.00002471●●●●●●
200. 7569492 c.1493C>T p.P498L missense 0.00002471●●●●●●
201. 7559520 c.484C>G p.R162G missense 0.00002471●●●●●●
202. 7568701 c.1298G>A p.R433H missense 0.00002471●●●●●●
203. 7559520 c.484C>T p.R162C missense 0.00002471●●●●●●
204. 7584045 c.6550G>A p.V2184M missense 0.00002471●●●●●●
205. 7569486 c.1487C>T p.T496M missense 0.00002471●●●●●●
206. 7568727 c.1324T>G p.S442A missense 0.00002471●●●●●●
207. 7585197 c.7702G>A p.G2568S missense 0.00002471●●●●●●
208. 7559485 c.449G>A p.R150Q missense 0.00002471●●●●●●
209. 7558359 c.284A>G p.Y95C missense 0.00002471●●●●●●
210. 7585117 c.7622G>A p.R2541K missense 0.00002471●●●●●●
211. 7542159 c.11A>G p.N4S missense 0.00002374●●●●●●
212. 7542239 c.91A>G p.T31A missense 0.00002168●●●●●●
213. 7542230 c.82T>G p.Y28D missense 0.00001911●●●●●●
214. 7556051 c.271C>G p.P91A missense 0.00001764●●●●●●
215. 7558483 c.408T>G p.D136E missense 0.00001716●●●●●●
216. 7579526 c.3103G>C p.E1035Q missense 0.00001696●●●●●●
217. 7556036 c.256G>C p.E86Q missense 0.00001695●●●●●●
218. 7581294 c.4871T>C p.I1624T missense 0.00001689●●●●●●
219. 7581304 c.4881G>T p.K1627N missense 0.00001688●●●●●●
220. 7581324 c.4901G>T p.R1634L missense 0.00001683●●●●●●
221. 7579996 c.3573G>C p.E1191D missense 0.00001678●●●●●●
222. 7579925 c.3502G>A p.E1168K missense 0.00001677●●●●●●
223. 7577192 c.2794A>G p.N932D missense 0.00001675●●●●●●
224. 7577256 c.2858T>C p.L953P missense 0.00001675●●●●●●
225. 7586007 c.8512C>T p.R2838C missense 0.00001674●●●●●●
226. 7585995 c.8500C>T p.R2834C missense 0.00001672●●●●●●
227. 7585993 c.8498C>G p.S2833C missense 0.00001671●●●●●●
228. 7581360 c.4937A>G p.E1646G missense 0.00001670●●●●●●
229. 7579560 c.3137A>T p.D1046V missense 0.00001669●●●●●●
230. 7581384 c.4961T>C p.L1654P missense 0.00001667●●●●●●
231. 7581071 c.4648A>T p.T1550S missense 0.00001666●●●●●●
232. 7580996 c.4573A>G p.I1525V missense 0.00001665●●●●●●
233. 7580187 c.3764G>C p.R1255T missense 0.00001665●●●●●●
234. 7580910 c.4487A>T p.D1496V missense 0.00001664●●●●●●
235. 7577246 c.2848A>G p.I950V missense 0.00001664●●●●●●
236. 7579766 c.3343A>G p.T1115A missense 0.00001664●●●●●●
237. 7580880 c.4457T>C p.L1486S missense 0.00001663●●●●●●
238. 7580901 c.4478A>C p.E1493A missense 0.00001663●●●●●●
239. 7580271 c.3848A>C p.E1283A missense 0.00001662●●●●●●
240. 7577238 c.2840T>C p.V947A missense 0.00001661●●●●●●
241. 7580379 c.3956C>T p.T1319I missense 0.00001660●●●●●●
242. 7580301 c.3878T>C p.I1293T missense 0.00001660●●●●●●
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736. 7558379 c.304A>C p.T102P missense 0.00000824●●●●●●
737. 7575714 c.2623G>A p.D875N missense 0.00000824●●●●●●
738. 7576574 c.2678A>C p.D893A missense 0.00000824●●●●●●
739. 7565674 c.860A>G p.N287S missense 0.00000824●●●●●●
740. 7585039 c.7544C>G p.T2515S missense 0.00000824●●●●●●
741. 7565712 c.898G>A p.D300N missense 0.00000824●●●●●●
742. 7584042 c.6547T>G p.Y2183D missense 0.00000824●●●●●●
743. 7578749 c.3038A>G p.Y1013C missense 0.00000824●●●●●●
744. 7578710 c.2999A>G p.H1000R missense 0.00000824●●●●●●
745. 7568679 c.1276G>A p.E426K missense 0.00000824●●●●●●
746. 7562952 c.665G>C p.R222P missense 0.00000824●●●●●●
747. 7559622 c.586A>G p.R196G missense 0.00000824●●●●●●
748. 7578021 c.2887C>T p.L963F missense 0.00000824●●●●●●
749. 7574960 c.2368A>G p.R790G missense 0.00000824●●●●●●
750. 7584536 c.7041C>G p.I2347M missense 0.00000824●●●●●●
751. 7559557 c.521G>A p.C174Y missense 0.00000824●●●●●●
752. 7565714 c.900C>A p.D300E missense 0.00000824●●●●●●
753. 7570698 c.1603G>T p.A535S missense 0.00000824●●●●●●
754. 7559502 c.466A>G p.I156V missense 0.00000824●●●●●●
755. 7582974 c.5479G>A p.A1827T missense 0.00000824●●●●●●
756. 7585252 c.7757G>A p.R2586Q missense 0.00000824●●●●●●
757. 7585222 c.7727G>T p.G2576V missense 0.00000824●●●●●●
758. 7584451 c.6956G>A p.G2319D missense 0.00000824●●●●●●
759. 7570766 c.1671A>G p.I557M missense 0.00000824●●●●●●
760. 7585159 c.7664C>T p.T2555I missense 0.00000824●●●●●●
761. 7583081 c.5586T>G p.N1862K missense 0.00000824●●●●●●
762. 7585096 c.7601T>C p.I2534T missense 0.00000824●●●●●●
763. 7576615 c.2719C>T p.R907C missense 0.00000824●●●●●●
764. 7569498 c.1499G>A p.G500D missense 0.00000824●●●●●●
765. 7585078 c.7583A>G p.Y2528C missense 0.00000824●●●●●●
766. 7584096 c.6601C>T p.L2201F missense 0.00000824●●●●●●
767. 7558439 c.364G>A p.D122N missense 0.00000824●●●●●●
768. 7575688 c.2597G>A p.R866H missense 0.00000824●●●●●●
769. 7572184 c.2013G>C p.E671D missense 0.00000824●●●●●●
770. 7568765 c.1362C>A p.D454E missense 0.00000824●●●●●●
771. 7584021 c.6526G>C p.V2176L missense 0.00000824●●●●●●
772. 7572173 c.2002A>G p.M668V missense 0.00000824●●●●●●
773. 7562981 c.694C>T p.R232C missense 0.00000824●●●●●●
774. 7558366 c.291T>G p.D97E missense 0.00000824●●●●●●
775. 7584996 c.7501T>C p.C2501R missense 0.00000824●●●●●●
776. 7559611 c.575T>C p.L192S missense 0.00000824●●●●●●
777. 7578116 c.2982A>C p.Q994H missense 0.00000824●●●●●●
778. 7575616 c.2525C>G p.T842S missense 0.00000824●●●●●●
779. 7585036 c.7541C>T p.S2514F missense 0.00000824●●●●●●
780. 7585233 c.7738G>T p.D2580Y missense 0.00000824●●●●●●
781. 7574906 c.2314G>A p.A772T missense 0.00000824●●●●●●
782. 7585864 c.8369A>G p.N2790S missense 0.00000824●●●●●●
783. 7584526 c.7031C>G p.T2344R missense 0.00000824●●●●●●
784. 7567636 c.1094C>T p.T365I missense 0.00000824●●●●●●
785. 7559539 c.503G>C p.G168A missense 0.00000824●●●●●●
786. 7576659 c.2763C>G p.N921K missense 0.00000824●●●●●●
787. 7585125 c.7630T>G p.F2544V missense 0.00000824●●●●●●
788. 7574341 c.2153C>T p.A718V missense 0.00000824●●●●●●
789. 7569539 c.1540C>T p.P514S missense 0.00000824●●●●●●
790. 7559481 c.445A>T p.M149L missense 0.00000824●●●●●●
791. 7565725 c.911A>T p.N304I missense 0.00000824●●●●●●
792. 7558409 c.334G>T p.A112S missense 0.00000824●●●●●●
793. 7565664 c.850A>G p.M284V missense 0.00000824●●●●●●
794. 7565627 c.813G>T p.Q271H missense 0.00000824●●●●●●
795. 7576580 c.2684A>C p.Y895S missense 0.00000824●●●●●●
796. 7572213 c.2042A>G p.H681R missense 0.00000824●●●●●●
797. 7585044 c.7549G>T p.V2517L missense 0.00000824●●●●●●
798. 7576570 c.2674C>T p.R892C missense 0.00000824●●●●●●
799. 7562912 c.625G>A p.V209M missense 0.00000824●●●●●●
800. 7562973 c.686G>A p.G229D missense 0.00000824●●●●●●
801. 7585029 c.7534G>T p.D2512Y missense 0.00000824●●●●●●
802. 7578769 c.3058A>T p.M1020L missense 0.00000824●●●●●●
803. 7575634 c.2543T>C p.L848P missense 0.00000824●●●●●●
804. 7568686 c.1283T>A p.I428N missense 0.00000824●●●●●●
805. 7562957 c.670A>G p.I224V missense 0.00000824●●●●●●
806. 7584648 c.7153C>T p.R2385C missense 0.00000824●●●●●●
807. 7578066 c.2932A>G p.I978V missense 0.00000824●●●●●●
808. 7574969 c.2377G>A p.E793K missense 0.00000824●●●●●●
809. 7559590 c.554A>G p.K185R missense 0.00000824●●●●●●
810. 7578096 c.2962C>T p.P988S missense 0.00000824●●●●●●
811. 7583089 c.5594A>G p.N1865S missense 0.00000824●●●●●●
812. 7585216 c.7721G>A p.G2574D missense 0.00000824●●●●●●
813. 7585225 c.7730T>C p.V2577A missense 0.00000824●●●●●●
814. 7584456 c.6961G>A p.V2321M missense 0.00000824●●●●●●
815. 7583106 c.5611T>G p.Y1871D missense 0.00000824●●●●●●
816. 7585102 c.7607A>T p.K2536M missense 0.00000824●●●●●●
817. 7576619 c.2723G>T p.R908L missense 0.00000824●●●●●●
818. 7569503 c.1504G>A p.D502N missense 0.00000824●●●●●●
819. 7584102 c.6607G>C p.V2203L missense 0.00000824●●●●●●
820. 7572254 c.2083G>C p.D695H missense 0.00000824●●●●●●
821. 7585002 c.7507T>A p.W2503R missense 0.00000824●●●●●●
822. 7575698 c.2607G>C p.R869S missense 0.00000824●●●●●●
823. 7568781 c.1378C>G p.P460A missense 0.00000824●●●●●●
824. 7584960 c.7465G>A p.D2489N missense 0.00000824●●●●●●
825. 7584021 c.6526G>T p.V2176F missense 0.00000824●●●●●●
826. 7562982 c.695G>A p.R232H missense 0.00000824●●●●●●
827. 7558374 c.299A>T p.Q100L missense 0.00000824●●●●●●
828. 7575541 c.2450A>T p.D817V missense 0.00000824●●●●●●
829. 7559614 c.578G>C p.G193A missense 0.00000824●●●●●●
830. 7575015 c.2423G>A p.R808H missense 0.00000824●●●●●●
831. 7575628 c.2537A>G p.Y846C missense 0.00000824●●●●●●
832. 7585628 c.8133G>T p.E2711D missense 0.00000824●●●●●●
833. 7562972 c.685G>A p.G229S missense 0.00000824●●●●●●
834. 7574907 c.2315C>A p.A772E missense 0.00000824●●●●●●
835. 7585245 c.7750A>G p.S2584G missense 0.00000824●●●●●●
836. 7567648 c.1106A>T p.D369V missense 0.00000824●●●●●●
837. 7584067 c.6572G>A p.R2191K missense 0.00000824●●●●●●
838. 7585174 c.7679T>C p.M2560T missense 0.00000824●●●●●●
839. 7574374 c.2186T>G p.M729R missense 0.00000824●●●●●●
840. 7570726 c.1631T>C p.M544T missense 0.00000824●●●●●●
841. 7582980 c.5485C>G p.L1829V missense 0.00000824●●●●●●
842. 7574344 c.2156T>C p.I719T missense 0.00000824●●●●●●
843. 7582908 c.5413T>G p.C1805G missense 0.00000824●●●●●●
844. 7584085 c.6590G>A p.G2197D missense 0.00000824●●●●●●
845. 7569425 c.1426G>T p.V476L missense 0.00000824●●●●●●
846. 7565727 c.913A>G p.I305V missense 0.00000824●●●●●●
847. 7558383 c.308G>A p.R103Q missense 0.00000824●●●●●●
848. 7576586 c.2690C>T p.A897V missense 0.00000824●●●●●●
849. 7562927 c.640G>A p.V214M missense 0.00000824●●●●●●
850. 7578770 c.3059T>C p.M1020T missense 0.00000824●●●●●●
851. 7575675 c.2584C>G p.Q862E missense 0.00000824●●●●●●
852. 7572174 c.2003T>C p.M668T missense 0.00000824●●●●●●
853. 7575657 c.2566T>C p.F856L missense 0.00000824●●●●●●
854. 7572167 c.1996A>G p.T666A missense 0.00000824●●●●●●
855. 7568691 c.1288G>A p.E430K missense 0.00000824●●●●●●
856. 7562972 c.685G>T p.G229C missense 0.00000824●●●●●●
857. 7578100 c.2966C>T p.S989F missense 0.00000824●●●●●●
858. 7575547 c.2456A>G p.N819S missense 0.00000824●●●●●●
859. 7584006 c.6511A>G p.N2171D missense 0.00000824●●●●●●
860. 7584655 c.7160C>T p.P2387L missense 0.00000824●●●●●●
861. 7559601 c.565A>G p.S189G missense 0.00000824●●●●●●
862. 7559576 c.540G>C p.W180C 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.