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. 7575713 c.2622C>G p.I874M missense 0.00004121●●●●●●
84. 7578715 c.3004C>T p.R1002W 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. 7569533 c.1534A>G p.I512V missense 0.00004118●●●●●●
96. 7558389 c.314G>A p.R105Q 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. 7583892 c.6397G>A p.G2133S missense 0.00003306●●●●●●
124. 7583805 c.6310delA frameshift 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. 7558415 c.340G>A p.A114T missense 0.00003295●●●●●●
143. 7575643 c.2552T>A p.L851Q missense 0.00003295●●●●●●
144. 7584061 c.6566G>A p.R2189Q 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. 7580189 c.3766C>T p.L1256F missense 0.00002496●●●●●●
167. 7580223 c.3800G>A p.R1267Q 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. 7568727 c.1324T>G p.S442A missense 0.00002471●●●●●●
202. 7558359 c.284A>G p.Y95C 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●●●●●●
243. 7580880 c.4457T>C p.L1486S missense 0.00001663●●●●●●
244. 7580271 c.3848A>C p.E1283A missense 0.00001662●●●●●●
245. 7577238 c.2840T>C p.V947A missense 0.00001661●●●●●●
246. 7580346 c.3923G>C p.R1308P missense 0.00001660●●●●●●
247. 7580301 c.3878T>C p.I1293T missense 0.00001660●●●●●●
248. 7579705 c.3282G>C p.K1094N missense 0.00001660●●●●●●
249. 7580379 c.3956C>T p.T1319I missense 0.00001660●●●●●●
250. 7580327 c.3904C>T p.R1302C missense 0.00001660●●●●●●
251. 7585371 c.7876G>C p.E2626Q missense 0.00001659●●●●●●
252. 7580077 c.3654G>C p.K1218N missense 0.00001659●●●●●●
253. 7581546 c.5123C>T p.S1708F missense 0.00001659●●●●●●
254. 7580342 c.3919G>A p.A1307T missense 0.00001659●●●●●●
255. 7580466 c.4043T>G p.L1348R missense 0.00001659●●●●●●
256. 7580469 c.4046G>A p.S1349N missense 0.00001659●●●●●●
257. 7580828 c.4405C>T p.L1469F missense 0.00001658●●●●●●
258. 7580484 c.4061A>G p.N1354S missense 0.00001658●●●●●●
259. 7580492 c.4069_4071delGAG p.Glu1357del inframe 0.00001658●●●●●●
260. 7583607 c.6112A>C p.K2038Q missense 0.00001658●●●●●●
261. 7583587 c.6092T>C p.L2031S missense 0.00001658●●●●●●
262. 7580528 c.4105G>A p.E1369K missense 0.00001657●●●●●●
263. 7585429 c.7934T>C p.I2645T missense 0.00001657●●●●●●
264. 7585359 c.7864A>G p.I2622V missense 0.00001657●●●●●●
265. 7583317 c.5822A>C p.K1941T missense 0.00001656●●●●●●
266. 7585350 c.7855A>G p.I2619V missense 0.00001656●●●●●●
267. 7585957 c.8462C>T p.S2821L missense 0.00001656●●●●●●
268. 7558460 c.385C>T p.R129W missense 0.00001655●●●●●●
269. 7585525 c.8030A>G p.Q2677R missense 0.00001655●●●●●●
270. 7583532 c.6037C>T p.R2013W missense 0.00001655●●●●●●
271. 7581708 c.5285G>A p.R1762Q missense 0.00001655●●●●●●
272. 7583523 c.6028C>T p.P2010S missense 0.00001655●●●●●●
273. 7583764 c.6269A>G p.E2090G missense 0.00001655●●●●●●
274. 7583377 c.5882T>G p.V1961G missense 0.00001654●●●●●●
275. 7580565 c.4142C>G p.T1381S missense 0.00001654●●●●●●
276. 7583216 c.5721G>C p.K1907N missense 0.00001653●●●●●●
277. 7583937 c.6442G>A p.A2148T missense 0.00001653●●●●●●
278. 7583862 c.6367C>T p.R2123C missense 0.00001653●●●●●●
279. 7584774 c.7279C>A p.L2427M missense 0.00001653●●●●●●
280. 7583890 c.6395G>A p.G2132E missense 0.00001653●●●●●●
281. 7581620 c.5197G>A p.D1733N missense 0.00001653●●●●●●
282. 7566686 c.1016A>G p.N339S missense 0.00001653●●●●●●
283. 7580613 c.4190A>G p.N1397S missense 0.00001653●●●●●●
284. 7580589 c.4166G>T p.S1389I missense 0.00001653●●●●●●
285. 7583800 c.6305G>T p.G2102V missense 0.00001653●●●●●●
286. 7583863 c.6368G>A p.R2123H missense 0.00001653●●●●●●
287. 7581617 c.5194G>A p.D1732N missense 0.00001653●●●●●●
288. 7583471 c.5976C>A p.D1992E missense 0.00001652●●●●●●
289. 7566672 c.1002C>A p.D334E missense 0.00001652●●●●●●
290. 7584885 c.7390C>T p.R2464C missense 0.00001652●●●●●●
291. 7583193 c.5698G>A p.E1900K missense 0.00001652●●●●●●
292. 7568070 c.1197C>G p.I399M missense 0.00001651●●●●●●
293. 7585774 c.8279C>T p.A2760V missense 0.00001651●●●●●●
294. 7580697 c.4274G>A p.R1425K missense 0.00001651●●●●●●
295. 7583467 c.5972T>C p.L1991S missense 0.00001651●●●●●●
296. 7555962 c.182C>T p.T61M missense 0.00001651●●●●●●
297. 7572131 c.1960G>A p.V654I missense 0.00001651●●●●●●
298. 7574448 c.2260G>A p.E754K missense 0.00001651●●●●●●
299. 7585704 c.8209G>C p.V2737L missense 0.00001650●●●●●●
300. 7585825 c.8330C>A p.P2777H missense 0.00001650●●●●●●
301. 7571629 c.1715G>A p.R572Q missense 0.00001650●●●●●●
302. 7571623 c.1709C>T p.T570I missense 0.00001650●●●●●●
303. 7583163 c.5668A>G p.R1890G missense 0.00001650●●●●●●
304. 7575534 c.2443A>G p.K815E missense 0.00001650●●●●●●
305. 7571644 c.1730T>C p.M577T missense 0.00001650●●●●●●
306. 7574407 c.2219G>C p.C740S missense 0.00001649●●●●●●
307. 7585621 c.8126C>T p.A2709V missense 0.00001649●●●●●●
308. 7585849 c.8354A>G p.Y2785C missense 0.00001649●●●●●●
309. 7572171 c.2000G>C p.W667S missense 0.00001649●●●●●●
310. 7572159 c.1988A>G p.K663R missense 0.00001649●●●●●●
311. 7584679 c.7184G>A p.G2395D missense 0.00001649●●●●●●
312. 7585240 c.7745T>G p.F2582C missense 0.00001648●●●●●●
313. 7584657 c.7162G>A p.V2388I missense 0.00001648●●●●●●
314. 7572218 c.2047G>A p.E683K missense 0.00001648●●●●●●
315. 7575688 c.2597G>T p.R866L missense 0.00001648●●●●●●
316. 7584541 c.7046C>G p.S2349C missense 0.00001648●●●●●●
317. 7584030 c.6535_6537delAAG p.K2179del1 inframe 0.00001648●●●●●●
318. 7568752 c.1349C>T p.P450L missense 0.00001648●●●●●●
319. 7559619 c.583A>G p.M195V missense 0.00001648●●●●●●
320. 7584495 c.7000C>T p.R2334X nonsense 0.00001648●●●●●●
321. 7568700 c.1297C>T p.R433C missense 0.00001648●●●●●●
322. 7584534 c.7039A>C p.I2347L missense 0.00001648●●●●●●
323. 7572197 c.2026C>T p.R676C missense 0.00001648●●●●●●
324. 7585230 c.7735G>A p.D2579N missense 0.00001648●●●●●●
325. 7572252 c.2081C>T p.A694V missense 0.00001648●●●●●●
326. 7584570 c.7075A>G p.I2359V missense 0.00001648●●●●●●
327. 7572198 c.2027G>A p.R676H missense 0.00001648●●●●●●
328. 7559571 c.535G>A p.G179S missense 0.00001647●●●●●●
329. 7559503 c.467T>A p.I156N missense 0.00001647●●●●●●
330. 7570767 c.1672G>C p.E558Q missense 0.00001647●●●●●●
331. 7559544 c.508G>A p.G170R missense 0.00001647●●●●●●
332. 7569557 c.1558G>A p.V520M missense 0.00001647●●●●●●
333. 7574978 c.2386A>G p.T796A missense 0.00001647●●●●●●
334. 7584427 c.6932C>T p.P2311L missense 0.00001647●●●●●●
335. 7585143 c.7648G>C p.G2550R missense 0.00001647●●●●●●
336. 7585047 c.7552G>A p.V2518I missense 0.00001647●●●●●●
337. 7569443 c.1444T>G p.C482G missense 0.00001647●●●●●●
338. 7584037 c.6542T>C p.V2181A missense 0.00001647●●●●●●
339. 7562979 c.692A>G p.Y231C missense 0.00001647●●●●●●
340. 7559589 c.553A>G p.K185E missense 0.00001647●●●●●●
341. 7562952 c.665G>A p.R222Q missense 0.00001647●●●●●●
342. 7585057 c.7562A>G p.D2521G missense 0.00001647●●●●●●
343. 7559521 c.485G>A p.R162H missense 0.00001647●●●●●●
344. 7585113 c.7618G>A p.D2540N missense 0.00001647●●●●●●
345. 7575669 c.2578G>A p.V860I missense 0.00001647●●●●●●
346. 7584397 c.6902T>C p.I2301T missense 0.00001647●●●●●●
347. 7558382 c.307C>G p.R103G missense 0.00001647●●●●●●
348. 7542211 c.63G>T p.E21D missense 0.00001609●●●●●●
349. 7542194 c.46C>T p.R16C missense 0.00001402●●●●●●
350. 7542150 c.2T>G p.Met1? missense 0.00001185●●●●●●
351. 7577270 c.2872A>G p.I958V missense 0.00000876●●●●●●
352. 7556045 c.265G>A p.V89M missense 0.00000869●●●●●●
353. 7581290 c.4867T>C p.S1623P missense 0.00000845●●●●●●
354. 7581234 c.4811C>T p.S1604L missense 0.00000844●●●●●●
355. 7581302 c.4879A>G p.K1627E missense 0.00000844●●●●●●
356. 7581242 c.4819G>A p.E1607K missense 0.00000844●●●●●●
357. 7572293 c.2122G>A p.E708K missense 0.00000843●●●●●●
358. 7581228 c.4805G>A p.R1602K missense 0.00000843●●●●●●
359. 7581317 c.4894G>C p.D1632H missense 0.00000842●●●●●●
360. 7579973 c.3550C>T p.R1184W missense 0.00000842●●●●●●
361. 7581317 c.4894G>A p.D1632N missense 0.00000842●●●●●●
362. 7581213 c.4790A>C p.E1597A missense 0.00000841●●●●●●
363. 7581216 c.4793T>A p.L1598Q missense 0.00000841●●●●●●
364. 7556033 c.253G>A p.A85T missense 0.00000841●●●●●●
365. 7572290 c.2119A>G p.N707D missense 0.00000840●●●●●●
366. 7579935 c.3512T>C p.I1171T missense 0.00000839●●●●●●
367. 7581177 c.4754C>T p.S1585L missense 0.00000839●●●●●●
368. 7581174 c.4751C>T p.A1584V missense 0.00000838●●●●●●
369. 7579926 c.3503A>G p.E1168G missense 0.00000838●●●●●●
370. 7577258 c.2860T>C p.C954R missense 0.00000838●●●●●●
371. 7577259 c.2861G>A p.C954Y missense 0.00000838●●●●●●
372. 7581171 c.4748C>G p.T1583S missense 0.00000838●●●●●●
373. 7586011 c.8516C>G p.S2839C missense 0.00000838●●●●●●
374. 7581173 c.4750G>C p.A1584P missense 0.00000838●●●●●●
375. 7586061 c.8566T>A p.S2856T missense 0.00000837●●●●●●
376. 7580015 c.3592C>T p.H1198Y missense 0.00000837●●●●●●
377. 7586001 c.8506G>A p.G2836R missense 0.00000837●●●●●●
378. 7586013 c.8518G>T p.G2840W missense 0.00000837●●●●●●
379. 7581345 c.4922A>G p.D1641G missense 0.00000836●●●●●●
380. 7586026 c.8531G>C p.G2844A missense 0.00000836●●●●●●
381. 7581159 c.4736G>A p.R1579Q missense 0.00000836●●●●●●
382. 7586032 c.8537G>A p.R2846Q missense 0.00000836●●●●●●
383. 7579554 c.3131C>T p.A1044V missense 0.00000836●●●●●●
384. 7586055 c.8560G>C p.G2854R missense 0.00000836●●●●●●
385. 7579896 c.3473T>C p.L1158S missense 0.00000836●●●●●●
386. 7581158 c.4735C>T p.R1579W missense 0.00000836●●●●●●
387. 7586059 c.8564A>T p.N2855I missense 0.00000836●●●●●●
388. 7586026 c.8531G>T p.G2844V missense 0.00000836●●●●●●
389. 7585993 c.8498_8499insCCCGCTCCGGA p.Ser2835_Gly2836insGlySerArgSer inframe 0.00000835●●●●●●
390. 7585987 c.8492C>T p.S2831L missense 0.00000835●●●●●●
391. 7579879 c.3456C>A p.N1152K missense 0.00000835●●●●●●
392. 7580024 c.3601G>A p.E1201K missense 0.00000835●●●●●●
393. 7581136 c.4713G>C p.Q1571H missense 0.00000835●●●●●●
394. 7585989 c.8494G>A p.G2832R missense 0.00000835●●●●●●
395. 7581140 c.4717G>A p.V1573M missense 0.00000835●●●●●●
396. 7585990 c.8495G>T p.G2832V missense 0.00000835●●●●●●
397. 7585971 c.8476C>T p.R2826C missense 0.00000834●●●●●●
398. 7581093 c.4670C>T p.T1557M missense 0.00000834●●●●●●
399. 7577248 c.2850T>G p.I950M missense 0.00000834●●●●●●
400. 7579560 c.3137A>G p.D1046G missense 0.00000834●●●●●●
401. 7577252 c.2854G>A p.E952K missense 0.00000834●●●●●●
402. 7585972 c.8477G>A p.R2826H missense 0.00000834●●●●●●
403. 7580032 c.3609G>A p.M1203I missense 0.00000834●●●●●●
404. 7577247 c.2849T>A p.I950N missense 0.00000834●●●●●●
405. 7579569 c.3146C>G p.S1049W missense 0.00000834●●●●●●
406. 7581056 c.4633G>A p.V1545I missense 0.00000833●●●●●●
407. 7583682 c.6187C>G p.R2063G missense 0.00000833●●●●●●
408. 7580033 c.3610A>G p.S1204G missense 0.00000833●●●●●●
409. 7583682 c.6187C>T p.R2063W missense 0.00000833●●●●●●
410. 7581039 c.4616G>C p.R1539T missense 0.00000833●●●●●●
411. 7581057 c.4634T>C p.V1545A missense 0.00000833●●●●●●
412. 7581027 c.4604T>A p.L1535Q missense 0.00000833●●●●●●
413. 7581044 c.4621G>A p.D1541N missense 0.00000833●●●●●●
414. 7583683 c.6188G>A p.R2063Q missense 0.00000833●●●●●●
415. 7581063 c.4640A>C p.Q1547P missense 0.00000833●●●●●●
416. 7581396 c.4973C>T p.S1658F missense 0.00000833●●●●●●
417. 7581055 c.4632G>T p.R1544S missense 0.00000833●●●●●●
418. 7579770 c.3347A>T p.Y1116F missense 0.00000832●●●●●●
419. 7579760 c.3337C>G p.R1113G missense 0.00000832●●●●●●
420. 7580220 c.3797A>G p.Q1266R missense 0.00000832●●●●●●
421. 7579827 c.3404A>C p.Q1135P missense 0.00000832●●●●●●
422. 7580155 c.3732_3733insGAAAATC p.Asp1248LysfsTer7 frameshift 0.00000832●●●●●●
423. 7581484 c.5061G>C p.K1687N missense 0.00000832●●●●●●
424. 7581442 c.5019A>T p.E1673D missense 0.00000832●●●●●●
425. 7579796 c.3373A>G p.R1125G missense 0.00000832●●●●●●
426. 7583700 c.6205G>A p.V2069I missense 0.00000832●●●●●●
427. 7580895 c.4472A>G p.D1491G missense 0.00000832●●●●●●
428. 7580174 c.3751G>C p.D1251H missense 0.00000832●●●●●●
429. 7580228 c.3805C>T p.R1269X nonsense 0.00000832●●●●●●
430. 7580138 c.3715C>T p.L1239F missense 0.00000832●●●●●●
431. 7580229 c.3806delG p.Arg1269GlnfsTer16 frameshift 0.00000832●●●●●●
432. 7580957 c.4534T>C p.Y1512H missense 0.00000832●●●●●●
433. 7580231 c.3808G>A p.A1270T missense 0.00000832●●●●●●
434. 7580198 c.3775A>G p.S1259G missense 0.00000832●●●●●●
435. 7581458 c.5035C>T p.H1679Y missense 0.00000832●●●●●●
436. 7581429 c.5006T>A p.L1669H missense 0.00000832●●●●●●
437. 7580181 c.3758T>C p.I1253T missense 0.00000832●●●●●●
438. 7581494 c.5071G>A p.D1691N missense 0.00000832●●●●●●
439. 7580910 c.4487A>G p.D1496G missense 0.00000832●●●●●●
440. 7580895 c.4472A>T p.D1491V missense 0.00000832●●●●●●
441. 7581416 c.4993A>G p.R1665G missense 0.00000832●●●●●●
442. 7579816 c.3393A>T p.R1131S missense 0.00000832●●●●●●
443. 7581433 c.5010G>C p.Q1670H missense 0.00000832●●●●●●
444. 7581470 c.5047G>A p.E1683K missense 0.00000832●●●●●●
445. 7583719 c.6224G>A p.R2075Q missense 0.00000831●●●●●●
446. 7580135 c.3712C>A p.Q1238K missense 0.00000831●●●●●●
447. 7577241 c.2843A>C p.Q948P missense 0.00000831●●●●●●
448. 7580871 c.4448T>C p.I1483T missense 0.00000831●●●●●●
449. 7580265 c.3842G>C p.G1281A missense 0.00000831●●●●●●
450. 7579644 c.3221C>T p.A1074V missense 0.00000831●●●●●●
451. 7568134 c.1261C>G p.L421V missense 0.00000831●●●●●●
452. 7583636 c.6141G>C p.M2047I missense 0.00000831●●●●●●
453. 7580268 c.3845C>G p.S1282C missense 0.00000831●●●●●●
454. 7583632 c.6137T>G p.V2046G missense 0.00000831●●●●●●
455. 7581732 c.5309T>C p.I1770T missense 0.00000831●●●●●●
456. 7580280 c.3857_3859delAGA p.Lys1288del inframe 0.00000831●●●●●●
457. 7580889 c.4466T>G p.L1489R missense 0.00000831●●●●●●
458. 7580258 c.3835G>A p.A1279T missense 0.00000831●●●●●●
459. 7568135 c.1262T>C p.L421P missense 0.00000831●●●●●●
460. 7580108 c.3685G>A p.E1229K missense 0.00000830●●●●●●
461. 7580847 c.4424C>T p.T1475I missense 0.00000830●●●●●●
462. 7580394 c.3971A>T p.N1324I missense 0.00000830●●●●●●
463. 7581543 c.5120A>G p.Q1707R missense 0.00000830●●●●●●
464. 7580856 c.4433A>G p.D1478G missense 0.00000830●●●●●●
465. 7583612 c.6117A>T p.L2039F missense 0.00000830●●●●●●
466. 7580335 c.3912G>C p.E1304D missense 0.00000830●●●●●●
467. 7583724 c.6229C>G p.L2077V missense 0.00000830●●●●●●
468. 7580441 c.4018C>G p.R1340G missense 0.00000830●●●●●●
469. 7580302 c.3879A>G p.I1293M missense 0.00000830●●●●●●
470. 7580285 c.3862A>T p.K1288X nonsense 0.00000830●●●●●●
471. 7568127 c.1254C>G p.I418M missense 0.00000830●●●●●●
472. 7583614 c.6119T>G p.I2040S missense 0.00000830●●●●●●
473. 7580286 c.3863A>G p.K1288R missense 0.00000830●●●●●●
474. 7580338 c.3915C>G p.D1305E missense 0.00000830●●●●●●
475. 7579721 c.3298T>C p.C1100R missense 0.00000830●●●●●●
476. 7580405 c.3982G>A p.E1328K missense 0.00000830●●●●●●
477. 7580444 c.4021C>T p.R1341C missense 0.00000830●●●●●●
478. 7583736 c.6241G>A p.D2081N missense 0.00000830●●●●●●
479. 7580441 c.4018C>A p.R1340S missense 0.00000830●●●●●●
480. 7580099 c.3676A>G p.M1226V missense 0.00000830●●●●●●
481. 7577220 c.2822G>A p.R941Q missense 0.00000830●●●●●●
482. 7580396 c.3973A>C p.K1325Q missense 0.00000830●●●●●●
483. 7572277 c.2106C>G p.I702M missense 0.00000830●●●●●●
484. 7580288 c.3865C>T p.Q1289X nonsense 0.00000830●●●●●●
485. 7580844 c.4421A>G p.K1474R missense 0.00000830●●●●●●
486. 7579695 c.3272A>G p.K1091R missense 0.00000830●●●●●●
487. 7583580 c.6085T>A p.Y2029N missense 0.00000829●●●●●●
488. 7585492 c.7997G>A p.G2666D missense 0.00000829●●●●●●
489. 7585380 c.7885G>A p.E2629K missense 0.00000829●●●●●●
490. 7580460 c.4037A>G p.N1346S missense 0.00000829●●●●●●
491. 7585443 c.7948C>T p.L2650F missense 0.00000829●●●●●●
492. 7583581 c.6086A>G p.Y2029C missense 0.00000829●●●●●●
493. 7581546 c.5123C>G p.S1708C missense 0.00000829●●●●●●
494. 7585413 c.7918G>T p.G2640C missense 0.00000829●●●●●●
495. 7580078 c.3655A>G p.T1219A missense 0.00000829●●●●●●
496. 7580067 c.3644A>G p.N1215S missense 0.00000829●●●●●●
497. 7580478 c.4055G>A p.R1352K missense 0.00000829●●●●●●
498. 7585458 c.7963G>T p.A2655S missense 0.00000829●●●●●●
499. 7581561 c.5138T>C p.L1713P missense 0.00000829●●●●●●
500. 7580072 c.3649A>T p.T1217S missense 0.00000829●●●●●●
501. 7580481 c.4058A>G p.N1353S missense 0.00000829●●●●●●
502. 7585468 c.7973G>T p.G2658V missense 0.00000829●●●●●●
503. 7583743 c.6248G>A p.R2083H missense 0.00000829●●●●●●
504. 7566710 c.1040T>C p.I347T missense 0.00000829●●●●●●
505. 7583592 c.6097G>A p.E2033K missense 0.00000829●●●●●●
506. 7585342 c.7847C>T p.S2616L missense 0.00000828●●●●●●
507. 7583529 c.6034C>T p.L2012F missense 0.00000828●●●●●●
508. 7581713 c.5290C>G p.L1764V missense 0.00000828●●●●●●
509. 7585345 c.7850G>A p.S2617N missense 0.00000828●●●●●●
510. 7568110 c.1237C>T p.H413Y missense 0.00000828●●●●●●
511. 7583754 c.6259T>C p.Y2087H missense 0.00000828●●●●●●
512. 7585954 c.8459C>T p.S2820F missense 0.00000828●●●●●●
513. 7583563 c.6068C>G p.A2023G missense 0.00000828●●●●●●
514. 7583557 c.6062C>G p.A2021G missense 0.00000828●●●●●●
515. 7583305 c.5810G>A p.R1937K missense 0.00000828●●●●●●
516. 7583329 c.5834G>A p.R1945H missense 0.00000828●●●●●●
517. 7581714 c.5291T>A p.L1764Q missense 0.00000828●●●●●●
518. 7558461 c.386G>A p.R129Q missense 0.00000828●●●●●●
519. 7585496 c.8001G>C p.Q2667H missense 0.00000828●●●●●●
520. 7583566 c.6071C>T p.S2024F missense 0.00000828●●●●●●
521. 7583557 c.6062C>A p.A2021E missense 0.00000828●●●●●●
522. 7583334 c.5839T>C p.Y1947H missense 0.00000828●●●●●●
523. 7583757 c.6262G>T p.A2088S missense 0.00000828●●●●●●
524. 7583316 c.5821_5826delAAACTC p.Lys1941_Leu1942del inframe 0.00000828●●●●●●
525. 7583542 c.6047G>A p.G2016E missense 0.00000828●●●●●●
526. 7581714 c.5291T>C p.L1764P missense 0.00000828●●●●●●
527. 7583299 c.5804A>G p.Y1935C missense 0.00000828●●●●●●
528. 7556015 c.235T>C p.S79P missense 0.00000828●●●●●●
529. 7583562 c.6067G>T p.A2023S missense 0.00000828●●●●●●
530. 7580541 c.4118C>T p.T1373I missense 0.00000828●●●●●●
531. 7583574 c.6079G>A p.E2027K missense 0.00000828●●●●●●
532. 7566614 c.944G>A p.R315H missense 0.00000828●●●●●●
533. 7583359 c.5864C>T p.T1955I missense 0.00000828●●●●●●
534. 7580535 c.4112A>G p.N1371S missense 0.00000828●●●●●●
535. 7585516 c.8021C>G p.A2674G missense 0.00000828●●●●●●
536. 7585967 c.8472_8473insCTCCGGC p.Ser2825LeufsTer29 frameshift 0.00000828●●●●●●
537. 7583550 c.6055G>A p.A2019T missense 0.00000828●●●●●●
538. 7581582 c.5159T>C p.L1720S missense 0.00000828●●●●●●
539. 7585435 c.7940G>A p.G2647D missense 0.00000828●●●●●●
540. 7583303 c.5808G>C p.Q1936H missense 0.00000828●●●●●●
541. 7580562 c.4139T>G p.L1380R missense 0.00000827●●●●●●
542. 7583785 c.6290A>G p.D2097G missense 0.00000827●●●●●●
543. 7580621 c.4198C>T p.R1400X nonsense 0.00000827●●●●●●
544. 7580601 c.4178C>A p.A1393D missense 0.00000827●●●●●●
545. 7582878 c.5383T>A p.S1795T missense 0.00000827●●●●●●
546. 7585548 c.8053G>T p.A2685S missense 0.00000827●●●●●●
547. 7585530 c.8035G>A p.V2679M missense 0.00000827●●●●●●
548. 7583394 c.5899G>A p.V1967M missense 0.00000827●●●●●●
549. 7585528 c.8033G>A p.G2678D missense 0.00000827●●●●●●
550. 7581603 c.5180T>C p.L1727P missense 0.00000827●●●●●●
551. 7572117 c.1946T>C p.V649A missense 0.00000827●●●●●●
552. 7585557 c.8062C>G p.L2688V missense 0.00000827●●●●●●
553. 7583509 c.6014C>T p.A2005V missense 0.00000827●●●●●●
554. 7583892 c.6397G>T p.G2133C missense 0.00000827●●●●●●
555. 7584802 c.7307A>C p.D2436A missense 0.00000827●●●●●●
556. 7580795 c.4372C>T p.R1458X nonsense 0.00000827●●●●●●
557. 7585545 c.8050A>G p.M2684V missense 0.00000827●●●●●●
558. 7568097 c.1224C>A p.N408K missense 0.00000827●●●●●●
559. 7583505 c.6010G>T p.V2004F missense 0.00000827●●●●●●
560. 7585557 c.8062C>A p.L2688M missense 0.00000827●●●●●●
561. 7584836 c.7341A>C p.K2447N missense 0.00000827●●●●●●
562. 7568105 c.1232T>C p.L411P missense 0.00000827●●●●●●
563. 7585936 c.8441C>G p.P2814R missense 0.00000827●●●●●●
564. 7585318 c.7823C>A p.S2608Y missense 0.00000827●●●●●●
565. 7580598 c.4175G>C p.R1392P missense 0.00000827●●●●●●
566. 7584840 c.7345_7347delAAG p.Lys2449del inframe 0.00000827●●●●●●
567. 7580624 c.4201G>C p.E1401Q missense 0.00000827●●●●●●
568. 7566682 c.1012C>T p.L338F missense 0.00000826●●●●●●
569. 7585750 c.8255G>A p.R2752Q missense 0.00000826●●●●●●
570. 7581680 c.5257A>T p.R1753W missense 0.00000826●●●●●●
571. 7585564 c.8069C>G p.P2690R missense 0.00000826●●●●●●
572. 7566635 c.965A>G p.K322R missense 0.00000826●●●●●●
573. 7583427 c.5932A>G p.M1978V missense 0.00000826●●●●●●
574. 7571815 c.1901C>A p.T634K missense 0.00000826●●●●●●
575. 7572126 c.1955A>G p.N652S missense 0.00000826●●●●●●
576. 7574463 c.2275G>A p.V759I missense 0.00000826●●●●●●
577. 7584876 c.7381C>T p.L2461F missense 0.00000826●●●●●●
578. 7566662 c.992A>C p.Q331P missense 0.00000826●●●●●●
579. 7583872 c.6377A>G p.E2126G missense 0.00000826●●●●●●
580. 7584855 c.7360C>G p.Q2454E missense 0.00000826●●●●●●
581. 7566640 c.970A>C p.K324Q missense 0.00000826●●●●●●
582. 7583407 c.5912T>C p.L1971P missense 0.00000826●●●●●●
583. 7581684 c.5261G>A p.S1754N missense 0.00000826●●●●●●
584. 7571815 c.1901C>G p.T634R missense 0.00000826●●●●●●
585. 7584869 c.7374G>T p.K2458N missense 0.00000826●●●●●●
586. 7583217 c.5722A>G p.R1908G missense 0.00000826●●●●●●
587. 7574467 c.2279C>T p.T760I missense 0.00000826●●●●●●
588. 7580675 c.4252C>G p.Q1418E missense 0.00000826●●●●●●
589. 7582885 c.5390G>C p.R1797T missense 0.00000826●●●●●●
590. 7580603 c.4180C>T p.Q1394X nonsense 0.00000826●●●●●●
591. 7566676 c.1006C>T p.L336F missense 0.00000826●●●●●●
592. 7585579 c.8084T>A p.F2695Y missense 0.00000826●●●●●●
593. 7583879 c.6384G>C p.Q2128H missense 0.00000826●●●●●●
594. 7585926 c.8431A>G p.K2811E missense 0.00000826●●●●●●
595. 7585299 c.7804T>G p.L2602V missense 0.00000826●●●●●●
596. 7583182 c.5687G>C p.R1896T missense 0.00000826●●●●●●
597. 7566667 c.997A>G p.S333G missense 0.00000826●●●●●●
598. 7566644 c.974A>G p.E325G missense 0.00000826●●●●●●
599. 7583947 c.6452G>A p.R2151Q missense 0.00000826●●●●●●
600. 7584730 c.7235C>A p.T2412N missense 0.00000826●●●●●●
601. 7585770 c.8275C>T p.R2759C missense 0.00000826●●●●●●
602. 7583841 c.6346A>G p.I2116V missense 0.00000826●●●●●●
603. 7572121 c.1950C>A p.N650K missense 0.00000826●●●●●●
604. 7583221 c.5726T>C p.I1909T missense 0.00000826●●●●●●
605. 7566680 c.1010T>C p.V337A missense 0.00000826●●●●●●
606. 7580647 c.4224_4226delAAT p.Ile1409del inframe 0.00000826●●●●●●
607. 7581670 c.5247C>G p.I1749M missense 0.00000826●●●●●●
608. 7583910 c.6415A>G p.N2139D missense 0.00000826●●●●●●
609. 7583416 c.5921A>T p.K1974M missense 0.00000826●●●●●●
610. 7583880 c.6385A>G p.I2129V missense 0.00000826●●●●●●
611. 7583856 c.6361G>A p.G2121R missense 0.00000826●●●●●●
612. 7566668 c.998G>A p.S333N missense 0.00000826●●●●●●
613. 7566662 c.992A>G p.Q331R missense 0.00000826●●●●●●
614. 7559459 c.423G>C p.R141S missense 0.00000826●●●●●●
615. 7583835 c.6340A>G p.N2114D missense 0.00000826●●●●●●
616. 7584891 c.7396G>A p.V2466M missense 0.00000826●●●●●●
617. 7584744 c.7249G>T p.D2417Y missense 0.00000826●●●●●●
618. 7583862 c.6367C>A p.R2123S missense 0.00000826●●●●●●
619. 7585273 c.7778T>G p.I2593S missense 0.00000825●●●●●●
620. 7585279 c.7784C>T p.T2595I missense 0.00000825●●●●●●
621. 7571721 c.1807G>C p.D603H missense 0.00000825●●●●●●
622. 7568053 c.1180G>A p.G394R missense 0.00000825●●●●●●
623. 7583164 c.5669G>C p.R1890T missense 0.00000825●●●●●●
624. 7571658 c.1744G>A p.D582N missense 0.00000825●●●●●●
625. 7568031 c.1158G>T p.Q386H missense 0.00000825●●●●●●
626. 7583167 c.5672_5674delAGA p.E1891_K1892delinsE inframe 0.00000825●●●●●●
627. 7580726 c.4303G>C p.A1435P missense 0.00000825●●●●●●
628. 7584260 c.6765G>C p.Q2255H missense 0.00000825●●●●●●
629. 7580737 c.4314_4315delTG p.Glu1439GlyfsTer11 frameshift 0.00000825●●●●●●
630. 7585615 c.8120T>C p.M2707T missense 0.00000825●●●●●●
631. 7585899 c.8404C>T p.L2802F missense 0.00000825●●●●●●
632. 7585669 c.8174G>A p.R2725H missense 0.00000825●●●●●●
633. 7555968 c.188C>G p.S63C missense 0.00000825●●●●●●
634. 7578704 c.2993A>T p.D998V missense 0.00000825●●●●●●
635. 7585838 c.8343A>T p.L2781F missense 0.00000825●●●●●●
636. 7571646 c.1732A>C p.K578Q missense 0.00000825●●●●●●
637. 7585711 c.8216C>T p.P2739L missense 0.00000825●●●●●●
638. 7584219 c.6724T>C p.S2242P missense 0.00000825●●●●●●
639. 7559464 c.428T>C p.L143P missense 0.00000825●●●●●●
640. 7584708 c.7213C>A p.L2405I missense 0.00000825●●●●●●
641. 7580729 c.4306A>G p.T1436A missense 0.00000825●●●●●●
642. 7585887 c.8392A>G p.T2798A missense 0.00000825●●●●●●
643. 7585282 c.7787T>C p.I2596T missense 0.00000825●●●●●●
644. 7571738 c.1824A>G p.I608M missense 0.00000825●●●●●●
645. 7568066 c.1193C>T p.S398F missense 0.00000825●●●●●●
646. 7583164 c.5669G>A p.R1890K missense 0.00000825●●●●●●
647. 7568033 c.1160C>T p.S387F missense 0.00000825●●●●●●
648. 7584271 c.6776G>A p.C2259Y missense 0.00000825●●●●●●
649. 7574314 c.2131-5_2131-2delGACA essential splice site 0.00000825●●●●●●
650. 7583430 c.5935C>G p.Q1979E missense 0.00000825●●●●●●
651. 7578705 c.2994T>G p.D998E missense 0.00000825●●●●●●
652. 7572137 c.1966G>A p.E656K missense 0.00000825●●●●●●
653. 7585720 c.8225A>G p.H2742R missense 0.00000825●●●●●●
654. 7555974 c.194A>T p.H65L missense 0.00000825●●●●●●
655. 7583151 c.5656G>C p.E1886Q missense 0.00000825●●●●●●
656. 7571650 c.1736C>T p.T579M missense 0.00000825●●●●●●
657. 7571664 c.1750G>A p.E584K missense 0.00000825●●●●●●
658. 7559467 c.431A>C p.Q144P missense 0.00000825●●●●●●
659. 7584228 c.6733G>A p.E2245K missense 0.00000825●●●●●●
660. 7585730 c.8235A>G p.I2745M missense 0.00000825●●●●●●
661. 7585716 c.8221G>A p.V2741M missense 0.00000825●●●●●●
662. 7584227 c.6732C>G p.D2244E missense 0.00000825●●●●●●
663. 7583458 c.5963A>G p.K1988R missense 0.00000825●●●●●●
664. 7568035 c.1162A>G p.T388A missense 0.00000825●●●●●●
665. 7584922 c.7427A>G p.E2476G missense 0.00000825●●●●●●
666. 7585793 c.8298C>G p.D2766E missense 0.00000825●●●●●●
667. 7574443 c.2255A>T p.K752I missense 0.00000825●●●●●●
668. 7585783 c.8288_8289insGCTT p.Gln2765AlafsTer23 frameshift 0.00000825●●●●●●
669. 7574322 c.2134G>A p.V712M missense 0.00000825●●●●●●
670. 7568815 c.1412A>G p.Q471R missense 0.00000825●●●●●●
671. 7583446 c.5951A>T p.Q1984L missense 0.00000825●●●●●●
672. 7572144 c.1973A>G p.N658S missense 0.00000825●●●●●●
673. 7571695 c.1781G>T p.S594I missense 0.00000825●●●●●●
674. 7571652 c.1738A>G p.I580V missense 0.00000825●●●●●●
675. 7582890 c.5395C>G p.Q1799E missense 0.00000825●●●●●●
676. 7585733 c.8238C>G p.S2746R missense 0.00000825●●●●●●
677. 7585719 c.8224C>T p.H2742Y missense 0.00000825●●●●●●
678. 7571766 c.1852C>T p.H618Y missense 0.00000825●●●●●●
679. 7583973 c.6478C>T p.R2160X nonsense 0.00000825●●●●●●
680. 7585897 c.8402G>A p.R2801H missense 0.00000825●●●●●●
681. 7585602 c.8107G>A p.G2703R missense 0.00000825●●●●●●
682. 7585809 c.8314A>G p.K2772E missense 0.00000825●●●●●●
683. 7571643 c.1729A>C p.M577L missense 0.00000825●●●●●●
684. 7585658 c.8163G>T p.E2721D missense 0.00000825●●●●●●
685. 7583961 c.6466A>G p.R2156G missense 0.00000825●●●●●●
686. 7583453 c.5958C>G p.I1986M missense 0.00000825●●●●●●
687. 7572134 c.1963A>T p.I655F missense 0.00000825●●●●●●
688. 7584536 c.7041C>G p.I2347M missense 0.00000824●●●●●●
689. 7578066 c.2932A>G p.I978V missense 0.00000824●●●●●●
690. 7574969 c.2377G>A p.E793K missense 0.00000824●●●●●●
691. 7584079 c.6584A>G p.H2195R missense 0.00000824●●●●●●
692. 7584526 c.7031C>G p.T2344R missense 0.00000824●●●●●●
693. 7578096 c.2962C>T p.P988S missense 0.00000824●●●●●●
694. 7585125 c.7630T>G p.F2544V missense 0.00000824●●●●●●
695. 7582974 c.5479G>A p.A1827T missense 0.00000824●●●●●●
696. 7570726 c.1631T>C p.M544T missense 0.00000824●●●●●●
697. 7585159 c.7664C>T p.T2555I missense 0.00000824●●●●●●
698. 7570763 c.1668delC p.Asp556GlufsTer2 frameshift 0.00000824●●●●●●
699. 7585078 c.7583A>G p.Y2528C missense 0.00000824●●●●●●
700. 7576619 c.2723G>T p.R908L missense 0.00000824●●●●●●
701. 7569503 c.1504G>A p.D502N missense 0.00000824●●●●●●
702. 7574919 c.2327C>G p.A776G missense 0.00000824●●●●●●
703. 7585044 c.7549G>T p.V2517L missense 0.00000824●●●●●●
704. 7575015 c.2423G>A p.R808H missense 0.00000824●●●●●●
705. 7572254 c.2083G>C p.D695H missense 0.00000824●●●●●●
706. 7575698 c.2607G>C p.R869S missense 0.00000824●●●●●●
707. 7572174 c.2003T>C p.M668T missense 0.00000824●●●●●●
708. 7562982 c.695G>A p.R232H missense 0.00000824●●●●●●
709. 7558374 c.299A>T p.Q100L missense 0.00000824●●●●●●
710. 7576594 c.2698A>G p.K900E missense 0.00000824●●●●●●
711. 7584648 c.7153C>T p.R2385C missense 0.00000824●●●●●●
712. 7575547 c.2456A>G p.N819S missense 0.00000824●●●●●●
713. 7559614 c.578G>C p.G193A missense 0.00000824●●●●●●
714. 7559601 c.565A>G p.S189G missense 0.00000824●●●●●●
715. 7575628 c.2537A>G p.Y846C missense 0.00000824●●●●●●
716. 7583089 c.5594A>G p.N1865S missense 0.00000824●●●●●●
717. 7559521 c.485G>T p.R162L missense 0.00000824●●●●●●
718. 7585864 c.8369A>G p.N2790S missense 0.00000824●●●●●●
719. 7574907 c.2315C>A p.A772E missense 0.00000824●●●●●●
720. 7565655 c.841A>G p.R281G missense 0.00000824●●●●●●
721. 7585225 c.7730T>C p.V2577A missense 0.00000824●●●●●●
722. 7584456 c.6961G>A p.V2321M missense 0.00000824●●●●●●
723. 7567648 c.1106A>T p.D369V missense 0.00000824●●●●●●
724. 7574374 c.2186T>G p.M729R missense 0.00000824●●●●●●
725. 7585102 c.7607A>T p.K2536M missense 0.00000824●●●●●●
726. 7576640 c.2744T>A p.M915K missense 0.00000824●●●●●●
727. 7574344 c.2156T>C p.I719T missense 0.00000824●●●●●●
728. 7584102 c.6607G>C p.V2203L missense 0.00000824●●●●●●
729. 7584067 c.6572G>A p.R2191K missense 0.00000824●●●●●●
730. 7585002 c.7507T>A p.W2503R missense 0.00000824●●●●●●
731. 7569425 c.1426G>T p.V476L missense 0.00000824●●●●●●
732. 7565727 c.913A>G p.I305V missense 0.00000824●●●●●●
733. 7584021 c.6526G>T p.V2176F missense 0.00000824●●●●●●
734. 7558383 c.308G>A p.R103Q missense 0.00000824●●●●●●
735. 7562883 c.598-2A>G essential splice site 0.00000824●●●●●●
736. 7576586 c.2690C>T p.A897V missense 0.00000824●●●●●●
737. 7562927 c.640G>A p.V214M missense 0.00000824●●●●●●
738. 7578770 c.3059T>C p.M1020T missense 0.00000824●●●●●●
739. 7575675 c.2584C>G p.Q862E missense 0.00000824●●●●●●
740. 7578716 c.3005G>C p.R1002P missense 0.00000824●●●●●●
741. 7575657 c.2566T>C p.F856L missense 0.00000824●●●●●●
742. 7572167 c.1996A>G p.T666A missense 0.00000824●●●●●●
743. 7568691 c.1288G>A p.E430K missense 0.00000824●●●●●●
744. 7562972 c.685G>T p.G229C missense 0.00000824●●●●●●
745. 7578100 c.2966C>T p.S989F missense 0.00000824●●●●●●
746. 7585029 c.7534G>T p.D2512Y missense 0.00000824●●●●●●
747. 7559576 c.540G>C p.W180C missense 0.00000824●●●●●●
748. 7585174 c.7679T>C p.M2560T missense 0.00000824●●●●●●
749. 7574410 c.2222A>G p.Y741C missense 0.00000824●●●●●●
750. 7570780 c.1685C>T p.A562V missense 0.00000824●●●●●●
751. 7567609 c.1067C>T p.T356M missense 0.00000824●●●●●●
752. 7582980 c.5485C>G p.L1829V missense 0.00000824●●●●●●
753. 7570758 c.1663A>T p.I555F missense 0.00000824●●●●●●
754. 7585628 c.8133G>T p.E2711D missense 0.00000824●●●●●●
755. 7585262 c.7767_7770delAGTA p.Ser2591ArgfsTer11 frameshift 0.00000824●●●●●●
756. 7582908 c.5413T>G p.C1805G missense 0.00000824●●●●●●
757. 7584085 c.6590G>A p.G2197D missense 0.00000824●●●●●●
758. 7576624 c.2728G>T p.D910Y missense 0.00000824●●●●●●
759. 7569508 c.1509G>T p.M503I missense 0.00000824●●●●●●
760. 7558362 c.287G>C p.G96A missense 0.00000824●●●●●●
761. 7574383 c.2195A>C p.N732T missense 0.00000824●●●●●●
762. 7565627 c.813G>T p.Q271H missense 0.00000824●●●●●●
763. 7584960 c.7465G>A p.D2489N missense 0.00000824●●●●●●
764. 7572194 c.2023A>T p.I675F missense 0.00000824●●●●●●
765. 7568782 c.1379C>T p.P460L missense 0.00000824●●●●●●
766. 7572179 c.2008A>G p.M670V missense 0.00000824●●●●●●
767. 7563970 c.728G>A p.R243H missense 0.00000824●●●●●●
768. 7575700 c.2609T>C p.I870T missense 0.00000824●●●●●●
769. 7575631 c.2540C>T p.P847L missense 0.00000824●●●●●●
770. 7584655 c.7160C>T p.P2387L missense 0.00000824●●●●●●
771. 7567677 c.1135T>A p.F379I missense 0.00000824●●●●●●
772. 7559554 c.518C>T p.T173I missense 0.00000824●●●●●●
773. 7583093 c.5598G>C p.Q1866H missense 0.00000824●●●●●●
774. 7559527 c.491C>T p.A164V missense 0.00000824●●●●●●
775. 7585867 c.8372G>A p.R2791H missense 0.00000824●●●●●●
776. 7585036 c.7541C>T p.S2514F missense 0.00000824●●●●●●
777. 7585245 c.7750A>G p.S2584G missense 0.00000824●●●●●●
778. 7574921 c.2329A>G p.I777V missense 0.00000824●●●●●●
779. 7565714 c.900C>A p.D300E missense 0.00000824●●●●●●
780. 7585229 c.7734C>G p.S2578R missense 0.00000824●●●●●●
781. 7584479 c.6984G>T p.K2328N missense 0.00000824●●●●●●
782. 7568676 c.1273C>T p.R425X nonsense 0.00000824●●●●●●
783. 7574379 c.2191G>A p.A731T missense 0.00000824●●●●●●
784. 7585216 c.7721G>A p.G2574D missense 0.00000824●●●●●●
785. 7585110 c.7615G>A p.V2539I missense 0.00000824●●●●●●
786. 7574359 c.2171A>C p.N724T missense 0.00000824●●●●●●
787. 7559502 c.466A>C p.I156L missense 0.00000824●●●●●●
788. 7576604 c.2708A>G p.Y903C missense 0.00000824●●●●●●
789. 7572245 c.2074C>G p.P692A missense 0.00000824●●●●●●
790. 7559535 c.499delA p.Lys167ArgfsTer29 frameshift 0.00000824●●●●●●
791. 7585033 c.7538G>A p.G2513D missense 0.00000824●●●●●●
792. 7569562 c.1563C>A p.D521E missense 0.00000824●●●●●●
793. 7584059 c.6564A>C p.E2188D missense 0.00000824●●●●●●
794. 7576574 c.2678A>C p.D893A missense 0.00000824●●●●●●
795. 7572212 c.2041C>G p.H681D missense 0.00000824●●●●●●
796. 7558428 c.353T>C p.M118T missense 0.00000824●●●●●●
797. 7565712 c.898G>A p.D300N missense 0.00000824●●●●●●
798. 7562884 c.598-1G>C essential splice site 0.00000824●●●●●●
799. 7562952 c.665G>C p.R222P missense 0.00000824●●●●●●
800. 7578778 c.3067A>C p.S1023R missense 0.00000824●●●●●●
801. 7575675 c.2584C>A p.Q862K missense 0.00000824●●●●●●
802. 7578111 c.2977C>G p.L993V missense 0.00000824●●●●●●
803. 7575571 c.2480C>A p.T827N missense 0.00000824●●●●●●
804. 7584562 c.7067A>C p.K2356T missense 0.00000824●●●●●●
805. 7574996 c.2404G>A p.D802N missense 0.00000824●●●●●●
806. 7559608 c.572G>A p.C191Y missense 0.00000824●●●●●●
807. 7584448 c.6953G>C p.R2318T missense 0.00000824●●●●●●
808. 7567631 c.1089G>C p.Q363H missense 0.00000824●●●●●●
809. 7584282 c.6787A>G p.I2263V missense 0.00000824●●●●●●
810. 7576628 c.2732C>T p.S911F missense 0.00000824●●●●●●
811. 7569521 c.1522G>A p.V508M missense 0.00000824●●●●●●
812. 7584087 c.6592C>G p.L2198V missense 0.00000824●●●●●●
813. 7569498 c.1499G>A p.G500D missense 0.00000824●●●●●●
814. 7576642 c.2746A>G p.K916E missense 0.00000824●●●●●●
815. 7574979 c.2387_2390delCTGT p.Val797AlafsTer14 frameshift 0.00000824●●●●●●
816. 7585627 c.8132A>G p.E2711G missense 0.00000824●●●●●●
817. 7585087 c.7592A>C p.Q2531P missense 0.00000824●●●●●●
818. 7584125 c.6630C>A p.F2210L missense 0.00000824●●●●●●
819. 7568765 c.1362C>A p.D454E missense 0.00000824●●●●●●
820. 7565636 c.822C>G p.N274K missense 0.00000824●●●●●●
821. 7558379 c.304A>C p.T102P missense 0.00000824●●●●●●
822. 7575714 c.2623G>A p.D875N missense 0.00000824●●●●●●
823. 7584963 c.7468T>C p.Y2490H missense 0.00000824●●●●●●
824. 7583992 c.6497G>A p.R2166Q missense 0.00000824●●●●●●
825. 7578749 c.3038A>G p.Y1013C missense 0.00000824●●●●●●
826. 7578710 c.2999A>G p.H1000R missense 0.00000824●●●●●●
827. 7568679 c.1276G>A p.E426K missense 0.00000824●●●●●●
828. 7584672 c.7177A>C p.K2393Q missense 0.00000824●●●●●●
829. 7559622 c.586A>G p.R196G missense 0.00000824●●●●●●
830. 7578021 c.2887C>T p.L963F missense 0.00000824●●●●●●
831. 7574960 c.2368A>G p.R790G missense 0.00000824●●●●●●
832. 7584006 c.6511A>G p.N2171D missense 0.00000824●●●●●●
833. 7584484 c.6989T>G p.L2330R missense 0.00000824●●●●●●
834. 7559557 c.521G>A p.C174Y missense 0.00000824●●●●●●
835. 7583104 c.5609A>G p.Q1870R missense 0.00000824●●●●●●
836. 7585255 c.7760A>G p.H2587R missense 0.00000824●●●●●●
837. 7570698 c.1603G>T p.A535S missense 0.00000824●●●●●●
838. 7559502 c.466A>G p.I156V missense 0.00000824●●●●●●
839. 7559481 c.445A>T p.M149L missense 0.00000824●●●●●●
840. 7585252 c.7757G>A p.R2586Q missense 0.00000824●●●●●●
841. 7585143 c.7648G>A p.G2550S missense 0.00000824●●●●●●
842. 7570766 c.1671A>G p.I557M missense 0.00000824●●●●●●
843. 7558409 c.334G>T p.A112S missense 0.00000824●●●●●●
844. 7563014 c.726+1G>A essential splice site 0.00000824●●●●●●
845. 7576615 c.2719C>T p.R907C missense 0.00000824●●●●●●
846. 7585039 c.7544C>G p.T2515S missense 0.00000824●●●●●●
847. 7572213 c.2042A>G p.H681R missense 0.00000824●●●●●●
848. 7558439 c.364G>A p.D122N missense 0.00000824●●●●●●
849. 7575688 c.2597G>A p.R866H missense 0.00000824●●●●●●
850. 7572184 c.2013G>C p.E671D missense 0.00000824●●●●●●
851. 7565674 c.860A>G p.N287S missense 0.00000824●●●●●●
852. 7572173 c.2002A>G p.M668V missense 0.00000824●●●●●●
853. 7562981 c.694C>T p.R232C missense 0.00000824●●●●●●
854. 7558366 c.291T>G p.D97E missense 0.00000824●●●●●●
855. 7562957 c.670A>G p.I224V missense 0.00000824●●●●●●
856. 7559611 c.575T>C p.L192S missense 0.00000824●●●●●●
857. 7559590 c.554A>G p.K185R missense 0.00000824●●●●●●
858. 7578116 c.2982A>C p.Q994H missense 0.00000824●●●●●●
859. 7575616 c.2525C>G p.T842S missense 0.00000824●●●●●●
860. 7585858 c.8363C>T p.A2788V missense 0.00000824●●●●●●
861. 7574906 c.2314G>A p.A772T missense 0.00000824●●●●●●
862. 7585233 c.7738G>T p.D2580Y missense 0.00000824●●●●●●
863. 7562972 c.685G>A p.G229S missense 0.00000824●●●●●●
864. 7585222 c.7727G>T p.G2576V missense 0.00000824●●●●●●
865. 7584451 c.6956G>A p.G2319D missense 0.00000824●●●●●●
866. 7567636 c.1094C>T p.T365I missense 0.00000824●●●●●●
867. 7559539 c.503G>C p.G168A missense 0.00000824●●●●●●
868. 7583081 c.5586T>G p.N1862K missense 0.00000824●●●●●●
869. 7575030 c.2436+2T>C essential splice site 0.00000824●●●●●●
870. 7585096 c.7601T>C p.I2534T missense 0.00000824●●●●●●
871. 7574341 c.2153C>T p.A718V missense 0.00000824●●●●●●
872. 7569539 c.1540C>T p.P514S missense 0.00000824●●●●●●
873. 7584096 c.6601C>T p.L2201F missense 0.00000824●●●●●●
874. 7576659 c.2763C>G p.N921K missense 0.00000824●●●●●●
875. 7565725 c.911A>T p.N304I missense 0.00000824●●●●●●
876. 7584021 c.6526G>C p.V2176L missense 0.00000824●●●●●●
877. 7568781 c.1378C>G p.P460A missense 0.00000824●●●●●●
878. 7565664 c.850A>G p.M284V missense 0.00000824●●●●●●
879. 7583106 c.5611T>G p.Y1871D missense 0.00000824●●●●●●
880. 7576580 c.2684A>C p.Y895S missense 0.00000824●●●●●●
881. 7575541 c.2450A>T p.D817V missense 0.00000824●●●●●●
882. 7584996 c.7501T>C p.C2501R missense 0.00000824●●●●●●
883. 7584042 c.6547T>G p.Y2183D missense 0.00000824●●●●●●
884. 7576570 c.2674C>T p.R892C missense 0.00000824●●●●●●
885. 7562912 c.625G>A p.V209M missense 0.00000824●●●●●●
886. 7562973 c.686G>A p.G229D missense 0.00000824●●●●●●
887. 7578769 c.3058A>T p.M1020L missense 0.00000824●●●●●●
888. 7568689 c.1286T>C p.L429P missense 0.00000824●●●●●●
889. 7575634 c.2543T>C p.L848P missense 0.00000824●●●●●●
890. 7568686 c.1283T>A p.I428N 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.