DSP protein-altering variants in ExAC

DSP gene summary
DSP variants in DCM

The table below lists the DSP protein-altering 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. 7558419 c.344A>G p.N115S missense 0.00005766●●●●●●
51. 7575559 c.2468C>T p.S823L missense 0.00005766●●●●●●
52. 7584060 c.6565C>T p.R2189W missense 0.00005766●●●●●●
53. 7569500 c.1501G>A p.V501I missense 0.00005765●●●●●●
54. 7559557 c.521G>T p.C174F missense 0.00005765●●●●●●
55. 7574937 c.2345A>G p.D782G 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. 7578715 c.3004C>T p.R1002W missense 0.00004121●●●●●●
84. 7575713 c.2622C>G p.I874M missense 0.00004121●●●●●●
85. 7583113 c.5618G>A p.R1873H missense 0.00004120●●●●●●
86. 7572208 c.2037A>G p.I679M missense 0.00004120●●●●●●
87. 7583017 c.5522C>T p.S1841L missense 0.00004119●●●●●●
88. 7569425 c.1426G>A p.V476M missense 0.00004119●●●●●●
89. 7578093 c.2959T>A p.S987T missense 0.00004119●●●●●●
90. 7585201 c.7706C>T p.T2569I missense 0.00004119●●●●●●
91. 7584184 c.6689C>T p.P2230L missense 0.00004119●●●●●●
92. 7569468 c.1469G>A p.R490H missense 0.00004118●●●●●●
93. 7585084 c.7589T>C p.I2530T missense 0.00004118●●●●●●
94. 7558375 c.300A>T p.Q100H missense 0.00004118●●●●●●
95. 7558389 c.314G>A p.R105Q missense 0.00004118●●●●●●
96. 7569533 c.1534A>G p.I512V missense 0.00004118●●●●●●
97. 7575660 c.2569G>A p.G857S missense 0.00004118●●●●●●
98. 7569467 c.1468C>T p.R490C 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. 7580954 c.4531C>T p.Q1511X nonsense 0.00003330●●●●●●
108. 7580988 c.4565C>T p.T1522M missense 0.00003330●●●●●●
109. 7581420 c.4997G>A p.R1666Q missense 0.00003329●●●●●●
110. 7580183 c.3760G>A p.V1254I missense 0.00003329●●●●●●
111. 7580187 c.3764G>A p.R1255K missense 0.00003329●●●●●●
112. 7580300 c.3877A>G p.I1293V missense 0.00003321●●●●●●
113. 7583728 c.6233T>C p.I2078T missense 0.00003321●●●●●●
114. 7580837 c.4414G>T p.A1472S missense 0.00003318●●●●●●
115. 7580442 c.4019G>A p.R1340H missense 0.00003318●●●●●●
116. 7585347 c.7852C>T p.P2618S missense 0.00003312●●●●●●
117. 7581583 c.5160_5162delAGA p.Glu1723del inframe 0.00003311●●●●●●
118. 7566704 c.1034A>G p.D345G missense 0.00003311●●●●●●
119. 7583376 c.5881G>A p.V1961I missense 0.00003309●●●●●●
120. 7585537 c.8042A>C p.D2681A missense 0.00003308●●●●●●
121. 7581606 c.5183G>A p.R1728K missense 0.00003307●●●●●●
122. 7580656 c.4233G>C p.R1411S missense 0.00003306●●●●●●
123. 7583805 c.6310delA frameshift 0.00003306●●●●●●
124. 7583892 c.6397G>A p.G2133S missense 0.00003306●●●●●●
125. 7572120 c.1949A>G p.N650S missense 0.00003306●●●●●●
126. 7583959 c.6464A>G p.D2155G missense 0.00003302●●●●●●
127. 7585728 c.8233A>G p.I2745V missense 0.00003301●●●●●●
128. 7584260 c.6765G>T p.Q2255H missense 0.00003301●●●●●●
129. 7585804 c.8309A>G p.Y2770C missense 0.00003301●●●●●●
130. 7559633 c.597_597+1insGTAA p.Ala200ValfsTer21 frameshift 0.00003300●●●●●●
131. 7585885 c.8390T>C p.I2797T missense 0.00003299●●●●●●
132. 7585667 c.8172G>T p.Q2724H missense 0.00003299●●●●●●
133. 7576667 c.2771T>C p.M924T missense 0.00003298●●●●●●
134. 7571731 c.1817G>A p.R606Q missense 0.00003298●●●●●●
135. 7571754 c.1840G>A p.D614N missense 0.00003298●●●●●●
136. 7585869 c.8374T>A p.S2792T missense 0.00003298●●●●●●
137. 7582907 c.5412G>T p.Q1804H missense 0.00003297●●●●●●
138. 7582909 c.5414G>A p.C1805Y missense 0.00003297●●●●●●
139. 7576571 c.2675G>A p.R892H missense 0.00003296●●●●●●
140. 7584528 c.7033G>C p.G2345R missense 0.00003296●●●●●●
141. 7576631 c.2735T>C p.L912S missense 0.00003296●●●●●●
142. 7584061 c.6566G>A p.R2189Q missense 0.00003295●●●●●●
143. 7558415 c.340G>A p.A114T missense 0.00003295●●●●●●
144. 7575643 c.2552T>A p.L851Q missense 0.00003295●●●●●●
145. 7563982 c.740C>T p.A247V missense 0.00003295●●●●●●
146. 7575640 c.2549_2550insTCT p.D850delinsDL inframe 0.00003295●●●●●●
147. 7575631 c.2540C>G p.P847R missense 0.00003295●●●●●●
148. 7570725 c.1630A>C p.M544L missense 0.00003295●●●●●●
149. 7542209 c.61G>A p.E21K missense 0.00003129●●●●●●
150. 7542263 c.115A>G p.R39G missense 0.00003020●●●●●●
151. 7542255 c.107G>T p.G36V missense 0.00002863●●●●●●
152. 7542255 c.107G>C p.G36A missense 0.00002863●●●●●●
153. 7542252 c.104G>C p.G35A missense 0.00002714●●●●●●
154. 7556039 c.259C>G p.L87V missense 0.00002558●●●●●●
155. 7586085 c.8590T>C p.F2864L missense 0.00002525●●●●●●
156. 7586077 c.8582delC p.Tyr2862ThrfsTer21 frameshift 0.00002520●●●●●●
157. 7580023 c.3600T>G p.N1200K missense 0.00002506●●●●●●
158. 7581119 c.4696C>G p.L1566V missense 0.00002503●●●●●●
159. 7585977 c.8482G>A p.G2828S missense 0.00002503●●●●●●
160. 7581089 c.4666A>G p.I1556V missense 0.00002501●●●●●●
161. 7581080 c.4657G>A p.D1553N missense 0.00002500●●●●●●
162. 7580197 c.3774C>A p.D1258E missense 0.00002497●●●●●●
163. 7579590 c.3167A>G p.K1056R missense 0.00002497●●●●●●
164. 7581414 c.4991T>G p.L1664R missense 0.00002497●●●●●●
165. 7579811 c.3388G>A p.D1130N missense 0.00002497●●●●●●
166. 7580223 c.3800G>A p.R1267Q missense 0.00002496●●●●●●
167. 7580189 c.3766C>T p.L1256F missense 0.00002496●●●●●●
168. 7581486 c.5063C>T p.A1688V missense 0.00002495●●●●●●
169. 7580894 c.4471G>A p.D1491N missense 0.00002495●●●●●●
170. 7583718 c.6223C>T p.R2075W missense 0.00002494●●●●●●
171. 7579746 c.3323A>G p.N1108S missense 0.00002494●●●●●●
172. 7579649 c.3226C>T p.L1076F missense 0.00002491●●●●●●
173. 7580328 c.3905G>A p.R1302H missense 0.00002490●●●●●●
174. 7580431 c.4008delG p.Glu1337ArgfsTer12 frameshift 0.00002488●●●●●●
175. 7580418 c.3995C>T p.A1332V missense 0.00002488●●●●●●
176. 7585489 c.7994C>T p.T2665M missense 0.00002486●●●●●●
177. 7580525 c.4102A>G p.T1368A missense 0.00002486●●●●●●
178. 7566614 c.944G>T p.R315L missense 0.00002485●●●●●●
179. 7566616 c.946A>G p.M316V missense 0.00002484●●●●●●
180. 7583550 c.6055G>T p.A2019S missense 0.00002484●●●●●●
181. 7583290 c.5795G>A p.R1932H missense 0.00002483●●●●●●
182. 7585539 c.8044C>G p.Q2682E missense 0.00002481●●●●●●
183. 7566631 c.961G>C p.V321L missense 0.00002480●●●●●●
184. 7568095 c.1222A>C p.N408H missense 0.00002480●●●●●●
185. 7559460 c.424C>T p.L142F missense 0.00002477●●●●●●
186. 7583454 c.5959G>A p.D1987N missense 0.00002476●●●●●●
187. 7585896 c.8401C>G p.R2801G missense 0.00002475●●●●●●
188. 7559632 c.596G>A p.R199K missense 0.00002474●●●●●●
189. 7571730 c.1816C>T p.R606W missense 0.00002474●●●●●●
190. 7568026 c.1153G>T p.A385S missense 0.00002474●●●●●●
191. 7585613 c.8118G>C p.K2706N missense 0.00002474●●●●●●
192. 7582912 c.5417C>G p.T1806S missense 0.00002473●●●●●●
193. 7572194 c.2023A>G p.I675V missense 0.00002472●●●●●●
194. 7572201 c.2030G>A p.R677K missense 0.00002472●●●●●●
195. 7565676 c.862G>A p.D288N missense 0.00002472●●●●●●
196. 7568677 c.1274G>A p.R425Q missense 0.00002472●●●●●●
197. 7584534 c.7039A>G p.I2347V missense 0.00002472●●●●●●
198. 7574372 c.2184T>A p.D728E missense 0.00002472●●●●●●
199. 7584612 c.7117G>A p.A2373T missense 0.00002472●●●●●●
200. 7576616 c.2720G>A p.R907H missense 0.00002472●●●●●●
201. 7558359 c.284A>G p.Y95C missense 0.00002471●●●●●●
202. 7568727 c.1324T>G p.S442A missense 0.00002471●●●●●●
203. 7559485 c.449G>A p.R150Q missense 0.00002471●●●●●●
204. 7584045 c.6550G>A p.V2184M missense 0.00002471●●●●●●
205. 7578075 c.2941A>G p.K981E missense 0.00002471●●●●●●
206. 7559515 c.479G>A p.R160Q missense 0.00002471●●●●●●
207. 7569492 c.1493C>T p.P498L missense 0.00002471●●●●●●
208. 7558382 c.307C>T p.R103W missense 0.00002471●●●●●●
209. 7569561 c.1562A>C p.D521A missense 0.00002471●●●●●●
210. 7585117 c.7622G>A p.R2541K missense 0.00002471●●●●●●
211. 7559520 c.484C>G p.R162G missense 0.00002471●●●●●●
212. 7569486 c.1487C>T p.T496M missense 0.00002471●●●●●●
213. 7585197 c.7702G>A p.G2568S missense 0.00002471●●●●●●
214. 7568701 c.1298G>A p.R433H missense 0.00002471●●●●●●
215. 7559520 c.484C>T p.R162C missense 0.00002471●●●●●●
216. 7542159 c.11A>G p.N4S missense 0.00002374●●●●●●
217. 7542239 c.91A>G p.T31A missense 0.00002168●●●●●●
218. 7542230 c.82T>G p.Y28D missense 0.00001911●●●●●●
219. 7556051 c.271C>G p.P91A missense 0.00001764●●●●●●
220. 7558483 c.408T>G p.D136E missense 0.00001716●●●●●●
221. 7579526 c.3103G>C p.E1035Q missense 0.00001696●●●●●●
222. 7556036 c.256G>C p.E86Q missense 0.00001695●●●●●●
223. 7581294 c.4871T>C p.I1624T missense 0.00001689●●●●●●
224. 7581304 c.4881G>T p.K1627N missense 0.00001688●●●●●●
225. 7581324 c.4901G>T p.R1634L missense 0.00001683●●●●●●
226. 7579996 c.3573G>C p.E1191D missense 0.00001678●●●●●●
227. 7579925 c.3502G>A p.E1168K missense 0.00001677●●●●●●
228. 7577192 c.2794A>G p.N932D missense 0.00001675●●●●●●
229. 7577256 c.2858T>C p.L953P missense 0.00001675●●●●●●
230. 7586007 c.8512C>T p.R2838C missense 0.00001674●●●●●●
231. 7585995 c.8500C>T p.R2834C missense 0.00001672●●●●●●
232. 7585993 c.8498C>G p.S2833C missense 0.00001671●●●●●●
233. 7581360 c.4937A>G p.E1646G missense 0.00001670●●●●●●
234. 7579560 c.3137A>T p.D1046V missense 0.00001669●●●●●●
235. 7581384 c.4961T>C p.L1654P missense 0.00001667●●●●●●
236. 7581071 c.4648A>T p.T1550S missense 0.00001666●●●●●●
237. 7580187 c.3764G>C p.R1255T missense 0.00001665●●●●●●
238. 7580996 c.4573A>G p.I1525V missense 0.00001665●●●●●●
239. 7580910 c.4487A>T p.D1496V missense 0.00001664●●●●●●
240. 7577246 c.2848A>G p.I950V missense 0.00001664●●●●●●
241. 7579766 c.3343A>G p.T1115A missense 0.00001664●●●●●●
242. 7580901 c.4478A>C p.E1493A missense 0.00001663●●●●●●
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733. 7583089 c.5594A>G p.N1865S missense 0.00000824●●●●●●
734. 7559521 c.485G>T p.R162L missense 0.00000824●●●●●●
735. 7585864 c.8369A>G p.N2790S missense 0.00000824●●●●●●
736. 7574907 c.2315C>A p.A772E missense 0.00000824●●●●●●
737. 7565655 c.841A>G p.R281G missense 0.00000824●●●●●●
738. 7585225 c.7730T>C p.V2577A missense 0.00000824●●●●●●
739. 7584456 c.6961G>A p.V2321M missense 0.00000824●●●●●●
740. 7584067 c.6572G>A p.R2191K missense 0.00000824●●●●●●
741. 7574374 c.2186T>G p.M729R missense 0.00000824●●●●●●
742. 7585102 c.7607A>T p.K2536M missense 0.00000824●●●●●●
743. 7576640 c.2744T>A p.M915K missense 0.00000824●●●●●●
744. 7574344 c.2156T>C p.I719T missense 0.00000824●●●●●●
745. 7584102 c.6607G>C p.V2203L missense 0.00000824●●●●●●
746. 7576586 c.2690C>T p.A897V missense 0.00000824●●●●●●
747. 7585002 c.7507T>A p.W2503R missense 0.00000824●●●●●●
748. 7569425 c.1426G>T p.V476L missense 0.00000824●●●●●●
749. 7565727 c.913A>G p.I305V missense 0.00000824●●●●●●
750. 7584021 c.6526G>T p.V2176F missense 0.00000824●●●●●●
751. 7558383 c.308G>A p.R103Q missense 0.00000824●●●●●●
752. 7562883 c.598-2A>G essential splice site 0.00000824●●●●●●
753. 7578716 c.3005G>C p.R1002P missense 0.00000824●●●●●●
754. 7575657 c.2566T>C p.F856L missense 0.00000824●●●●●●
755. 7572167 c.1996A>G p.T666A missense 0.00000824●●●●●●
756. 7568691 c.1288G>A p.E430K missense 0.00000824●●●●●●
757. 7562972 c.685G>T p.G229C missense 0.00000824●●●●●●
758. 7562927 c.640G>A p.V214M missense 0.00000824●●●●●●
759. 7578770 c.3059T>C p.M1020T missense 0.00000824●●●●●●
760. 7575675 c.2584C>G p.Q862E missense 0.00000824●●●●●●
761. 7559576 c.540G>C p.W180C missense 0.00000824●●●●●●
762. 7578100 c.2966C>T p.S989F missense 0.00000824●●●●●●
763. 7585029 c.7534G>T p.D2512Y missense 0.00000824●●●●●●
764. 7585174 c.7679T>C p.M2560T missense 0.00000824●●●●●●
765. 7574410 c.2222A>G p.Y741C missense 0.00000824●●●●●●
766. 7570780 c.1685C>T p.A562V missense 0.00000824●●●●●●
767. 7567609 c.1067C>T p.T356M missense 0.00000824●●●●●●
768. 7582980 c.5485C>G p.L1829V missense 0.00000824●●●●●●
769. 7570758 c.1663A>T p.I555F missense 0.00000824●●●●●●
770. 7585628 c.8133G>T p.E2711D missense 0.00000824●●●●●●
771. 7585262 c.7767_7770delAGTA p.Ser2591ArgfsTer11 frameshift 0.00000824●●●●●●
772. 7582908 c.5413T>G p.C1805G missense 0.00000824●●●●●●
773. 7576624 c.2728G>T p.D910Y missense 0.00000824●●●●●●
774. 7569508 c.1509G>T p.M503I missense 0.00000824●●●●●●
775. 7584085 c.6590G>A p.G2197D missense 0.00000824●●●●●●
776. 7572179 c.2008A>G p.M670V missense 0.00000824●●●●●●
777. 7563970 c.728G>A p.R243H missense 0.00000824●●●●●●
778. 7575700 c.2609T>C p.I870T missense 0.00000824●●●●●●
779. 7558362 c.287G>C p.G96A missense 0.00000824●●●●●●
780. 7574383 c.2195A>C p.N732T missense 0.00000824●●●●●●
781. 7565627 c.813G>T p.Q271H missense 0.00000824●●●●●●
782. 7584960 c.7465G>A p.D2489N missense 0.00000824●●●●●●
783. 7572194 c.2023A>T p.I675F missense 0.00000824●●●●●●
784. 7568782 c.1379C>T p.P460L missense 0.00000824●●●●●●
785. 7575631 c.2540C>T p.P847L missense 0.00000824●●●●●●
786. 7584655 c.7160C>T p.P2387L missense 0.00000824●●●●●●
787. 7574921 c.2329A>G p.I777V missense 0.00000824●●●●●●
788. 7565714 c.900C>A p.D300E missense 0.00000824●●●●●●
789. 7585229 c.7734C>G p.S2578R missense 0.00000824●●●●●●
790. 7584479 c.6984G>T p.K2328N missense 0.00000824●●●●●●
791. 7567677 c.1135T>A p.F379I missense 0.00000824●●●●●●
792. 7559554 c.518C>T p.T173I missense 0.00000824●●●●●●
793. 7583093 c.5598G>C p.Q1866H missense 0.00000824●●●●●●
794. 7559527 c.491C>T p.A164V missense 0.00000824●●●●●●
795. 7585867 c.8372G>A p.R2791H missense 0.00000824●●●●●●
796. 7585036 c.7541C>T p.S2514F missense 0.00000824●●●●●●
797. 7585245 c.7750A>G p.S2584G missense 0.00000824●●●●●●
798. 7574359 c.2171A>C p.N724T missense 0.00000824●●●●●●
799. 7559502 c.466A>C p.I156L missense 0.00000824●●●●●●
800. 7568676 c.1273C>T p.R425X nonsense 0.00000824●●●●●●
801. 7574379 c.2191G>A p.A731T missense 0.00000824●●●●●●
802. 7585216 c.7721G>A p.G2574D missense 0.00000824●●●●●●
803. 7585110 c.7615G>A p.V2539I missense 0.00000824●●●●●●
804. 7565712 c.898G>A p.D300N missense 0.00000824●●●●●●
805. 7562884 c.598-1G>C essential splice site 0.00000824●●●●●●
806. 7576604 c.2708A>G p.Y903C missense 0.00000824●●●●●●
807. 7572245 c.2074C>G p.P692A missense 0.00000824●●●●●●
808. 7559535 c.499delA p.Lys167ArgfsTer29 frameshift 0.00000824●●●●●●
809. 7585033 c.7538G>A p.G2513D missense 0.00000824●●●●●●
810. 7569562 c.1563C>A p.D521E missense 0.00000824●●●●●●
811. 7584059 c.6564A>C p.E2188D missense 0.00000824●●●●●●
812. 7576574 c.2678A>C p.D893A missense 0.00000824●●●●●●
813. 7572212 c.2041C>G p.H681D missense 0.00000824●●●●●●
814. 7558428 c.353T>C p.M118T missense 0.00000824●●●●●●
815. 7575675 c.2584C>A p.Q862K missense 0.00000824●●●●●●
816. 7562952 c.665G>C p.R222P missense 0.00000824●●●●●●
817. 7578778 c.3067A>C p.S1023R missense 0.00000824●●●●●●
818. 7559608 c.572G>A p.C191Y missense 0.00000824●●●●●●
819. 7578111 c.2977C>G p.L993V missense 0.00000824●●●●●●
820. 7575571 c.2480C>A p.T827N missense 0.00000824●●●●●●
821. 7584562 c.7067A>C p.K2356T missense 0.00000824●●●●●●
822. 7574996 c.2404G>A p.D802N missense 0.00000824●●●●●●
823. 7584448 c.6953G>C p.R2318T missense 0.00000824●●●●●●
824. 7567631 c.1089G>C p.Q363H missense 0.00000824●●●●●●
825. 7584282 c.6787A>G p.I2263V missense 0.00000824●●●●●●
826. 7574979 c.2387_2390delCTGT p.Val797AlafsTer14 frameshift 0.00000824●●●●●●
827. 7585627 c.8132A>G p.E2711G missense 0.00000824●●●●●●
828. 7585087 c.7592A>C p.Q2531P missense 0.00000824●●●●●●
829. 7584125 c.6630C>A p.F2210L missense 0.00000824●●●●●●
830. 7576628 c.2732C>T p.S911F missense 0.00000824●●●●●●
831. 7569521 c.1522G>A p.V508M missense 0.00000824●●●●●●
832. 7584087 c.6592C>G p.L2198V missense 0.00000824●●●●●●
833. 7569498 c.1499G>A p.G500D missense 0.00000824●●●●●●
834. 7576642 c.2746A>G p.K916E missense 0.00000824●●●●●●
835. 7583992 c.6497G>A p.R2166Q missense 0.00000824●●●●●●
836. 7568765 c.1362C>A p.D454E missense 0.00000824●●●●●●
837. 7565636 c.822C>G p.N274K missense 0.00000824●●●●●●
838. 7558379 c.304A>C p.T102P missense 0.00000824●●●●●●
839. 7575714 c.2623G>A p.D875N missense 0.00000824●●●●●●
840. 7584963 c.7468T>C p.Y2490H missense 0.00000824●●●●●●
841. 7559622 c.586A>G p.R196G missense 0.00000824●●●●●●
842. 7578749 c.3038A>G p.Y1013C missense 0.00000824●●●●●●
843. 7578710 c.2999A>G p.H1000R missense 0.00000824●●●●●●
844. 7568679 c.1276G>A p.E426K missense 0.00000824●●●●●●
845. 7584672 c.7177A>C p.K2393Q missense 0.00000824●●●●●●
846. 7585255 c.7760A>G p.H2587R missense 0.00000824●●●●●●
847. 7578021 c.2887C>T p.L963F missense 0.00000824●●●●●●
848. 7574960 c.2368A>G p.R790G missense 0.00000824●●●●●●
849. 7584006 c.6511A>G p.N2171D missense 0.00000824●●●●●●
850. 7584484 c.6989T>G p.L2330R missense 0.00000824●●●●●●
851. 7559557 c.521G>A p.C174Y missense 0.00000824●●●●●●
852. 7583104 c.5609A>G p.Q1870R missense 0.00000824●●●●●●
853. 7570698 c.1603G>T p.A535S missense 0.00000824●●●●●●
854. 7559502 c.466A>G p.I156V missense 0.00000824●●●●●●
855. 7559481 c.445A>T p.M149L missense 0.00000824●●●●●●
856. 7585252 c.7757G>A p.R2586Q missense 0.00000824●●●●●●
857. 7585143 c.7648G>A p.G2550S missense 0.00000824●●●●●●
858. 7570766 c.1671A>G p.I557M missense 0.00000824●●●●●●
859. 7558439 c.364G>A p.D122N missense 0.00000824●●●●●●
860. 7558409 c.334G>T p.A112S missense 0.00000824●●●●●●
861. 7563014 c.726+1G>A essential splice site 0.00000824●●●●●●
862. 7576615 c.2719C>T p.R907C missense 0.00000824●●●●●●
863. 7585039 c.7544C>G p.T2515S missense 0.00000824●●●●●●
864. 7572213 c.2042A>G p.H681R missense 0.00000824●●●●●●
865. 7575688 c.2597G>A p.R866H missense 0.00000824●●●●●●
866. 7572184 c.2013G>C p.E671D missense 0.00000824●●●●●●
867. 7565674 c.860A>G p.N287S missense 0.00000824●●●●●●
868. 7572173 c.2002A>G p.M668V missense 0.00000824●●●●●●
869. 7562981 c.694C>T p.R232C missense 0.00000824●●●●●●
870. 7558366 c.291T>G p.D97E missense 0.00000824●●●●●●
871. 7562957 c.670A>G p.I224V missense 0.00000824●●●●●●
872. 7559611 c.575T>C p.L192S missense 0.00000824●●●●●●
873. 7559590 c.554A>G p.K185R missense 0.00000824●●●●●●
874. 7578116 c.2982A>C p.Q994H missense 0.00000824●●●●●●
875. 7575616 c.2525C>G p.T842S missense 0.00000824●●●●●●
876. 7583081 c.5586T>G p.N1862K missense 0.00000824●●●●●●
877. 7585858 c.8363C>T p.A2788V missense 0.00000824●●●●●●
878. 7574906 c.2314G>A p.A772T missense 0.00000824●●●●●●
879. 7585233 c.7738G>T p.D2580Y missense 0.00000824●●●●●●
880. 7562972 c.685G>A p.G229S missense 0.00000824●●●●●●
881. 7585222 c.7727G>T p.G2576V missense 0.00000824●●●●●●
882. 7584451 c.6956G>A p.G2319D missense 0.00000824●●●●●●
883. 7567636 c.1094C>T p.T365I missense 0.00000824●●●●●●
884. 7559539 c.503G>C p.G168A missense 0.00000824●●●●●●
885. 7576659 c.2763C>G p.N921K missense 0.00000824●●●●●●
886. 7575030 c.2436+2T>C essential splice site 0.00000824●●●●●●
887. 7585096 c.7601T>C p.I2534T missense 0.00000824●●●●●●
888. 7574341 c.2153C>T p.A718V missense 0.00000824●●●●●●
889. 7569539 c.1540C>T p.P514S missense 0.00000824●●●●●●
890. 7584096 c.6601C>T p.L2201F 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.