TNRC18 variants in ExAC

TNRC18 gene summary
TNRC18 variants in

The table below lists the TNRC18 variants found in the ExAC population database. Click on each variant for more details, including presence in the 1000 Genomes and Exome Sequencing Project databases, a breakdown by ethnic class and the variant's role in inherited cardiac disease. Use the form below to customise the variant selection. The table can be sorted by variant location, variant type or ExAC frequency.




No. Genomic coord.✝ Variant (CDS)▼ Variant (Protein) Variant Type▼ ExAC frequency▼Populations*
1. 5427720 c.1735T>C p.S579P missense 0.99758627●●●●●●
2. 5410425 c.3800C>G p.A1267G missense 0.46660840●●●●●●
3. 5396715 c.5026A>G p.N1676D missense 0.43083499●●●●●●
4. 5391702 c.5218G>C p.E1740Q missense 0.19363033●●●●●●
5. 5352949 c.7573C>G p.L2525V missense 0.13394670●●●●●●
6. 5353344 c.7178C>T p.P2393L missense 0.11866149●●●●●●
7. 5434107 c.307C>T p.P103S missense 0.03189318●●●●●●
8. 5352669 c.7853_7854insCTCCTC p.Ser2618_Ser2619dup inframe 0.03095307●●●●●●
9. 5427950 c.1505C>T p.P502L missense 0.02966378●●●●●●
10. 5352659 c.7863_7865delCTC p.Ser2631del inframe 0.01962175●●●●●●
11. 5352802 c.7720_7722delAGC p.Ser2577del inframe 0.01907097●●●●●●
12. 5353252 c.7270C>G p.P2424A missense 0.01771725●●●●●●
13. 5352660 c.7862_7863insATCCTC p.Ser2620_Ser2621dup inframe 0.01702597●●●●●●
14. 5413923 c.2992G>A p.A998T missense 0.01619718●●●●●●
15. 5352668 c.7854_7856delCTC p.Ser2619del inframe 0.01554852●●●●●●
16. 5396916 c.4834-9C>T splice site 0.00886967●●●●●●
17. 5428287 c.1168A>G p.I390V missense 0.00769231●●●●●●
18. 5353449 c.7073C>G p.P2358R missense 0.00748069●●●●●●
19. 5417170 c.2293C>T p.P765S missense 0.00725309●●●●●●
20. 5410013 c.4212G>C p.E1404D missense 0.00711297●●●●●●
21. 5372626 c.5774C>G p.S1925W missense 0.00663140●●●●●●
22. 5402432 c.4244G>A p.R1415Q missense 0.00661363●●●●●●
23. 5372564 c.5836C>A p.P1946T missense 0.00643980●●●●●●
24. 5364777 c.6250G>A p.A2084T missense 0.00640896●●●●●●
25. 5372303 c.6097A>G p.S2033G missense 0.00552447●●●●●●
26. 5428698 c.757C>T p.R253W missense 0.00543478●●●●●●
27. 5399075 c.4787A>C p.N1596T missense 0.00412354●●●●●●
28. 5353003 c.7519G>A p.A2507T missense 0.00387566●●●●●●
29. 5352659 c.7863_7868delCTCCTC p.Ser2629_Ser2630del inframe 0.00378251●●●●●●
30. 5402453 c.4223C>T p.A1408V missense 0.00355916●●●●●●
31. 5402275 c.4395+6C>T splice site 0.00349623●●●●●●
32. 5352669 c.7853_7854insCTC p.Ser2619dup inframe 0.00302332●●●●●●
33. 5352530 c.7992_7994delCTC p.Ser2665del inframe 0.00287224●●●●●●
34. 5372636 c.5764C>T p.R1922C missense 0.00265226●●●●●●
35. 5410365 c.3860C>T p.S1287F missense 0.00263042●●●●●●
36. 5352403 c.8119G>A p.A2707T missense 0.00251639●●●●●●
37. 5372314 c.6086G>T p.G2029V missense 0.00243363●●●●●●
38. 5372242 c.6147+11C>T splice site 0.00213565●●●●●●
39. 5428622 c.833C>T p.P278L missense 0.00213344●●●●●●
40. 5410501 c.3724G>A p.A1242T missense 0.00207828●●●●●●
41. 5427582 c.1873C>G p.P625A missense 0.00196989●●●●●●
42. 5352817 c.7705A>G p.S2569G missense 0.00188022●●●●●●
43. 5402367 c.4309G>A p.V1437M missense 0.00186040●●●●●●
44. 5401241 c.4645G>A p.G1549S missense 0.00185902●●●●●●
45. 5348767 c.8621G>A p.G2874D missense 0.00184969●●●●●●
46. 5428556 c.899C>T p.A300V missense 0.00183824●●●●●●
47. 5352660 c.7862_7863insATC p.Ser2620dup inframe 0.00171485●●●●●●
48. 5410695 c.3530C>T p.S1177L missense 0.00149275●●●●●●
49. 5427369 c.2086G>T p.G696C missense 0.00145909●●●●●●
50. 5352439 c.8083G>A p.A2695T missense 0.00143695●●●●●●
51. 5352439 c.8083G>T p.A2695S missense 0.00141700●●●●●●
52. 5352430 c.8092G>A p.A2698T missense 0.00133449●●●●●●
53. 5355631 c.6818C>T p.P2273L missense 0.00125881●●●●●●
54. 5352659 c.7863_7871delCTCCTCCTC p.Ser2627_Ser2629del inframe 0.00118203●●●●●●
55. 5353450 c.7072C>A p.P2358T missense 0.00110912●●●●●●
56. 5428014 c.1441G>T p.G481C missense 0.00110475●●●●●●
57. 5427452 c.2003G>T p.G668V missense 0.00109516●●●●●●
58. 5401259 c.4627_4628insC p.Arg1543ProfsTer10 frameshift 0.00106284●●●●●●
59. 5353035 c.7487A>G p.K2496R missense 0.00101707●●●●●●
60. 5428497 c.958C>T p.R320C missense 0.00097276●●●●●●
61. 5410697 c.3528G>C p.E1176D missense 0.00093049●●●●●●
62. 5428871 c.584C>T p.P195L missense 0.00091785●●●●●●
63. 5402433 c.4243C>G p.R1415G missense 0.00091057●●●●●●
64. 5410137 c.4088C>G p.A1363G missense 0.00084548●●●●●●
65. 5428958 c.497A>G p.Y166C missense 0.00084222●●●●●●
66. 5372449 c.5951C>T p.A1984V missense 0.00082237●●●●●●
67. 5401564 c.4496G>A p.R1499H missense 0.00080257●●●●●●
68. 5401346 c.4540C>T p.R1514C missense 0.00079316●●●●●●
69. 5410791 c.3434G>A p.R1145Q missense 0.00076343●●●●●●
70. 5410137 c.4088C>T p.A1363V missense 0.00074601●●●●●●
71. 5416532 c.2554G>A p.D852N missense 0.00072957●●●●●●
72. 5417106 c.2357C>T p.A786V missense 0.00071899●●●●●●
73. 5428639 c.816G>T p.K272N missense 0.00071361●●●●●●
74. 5428107 c.1348A>G p.T450A missense 0.00071056●●●●●●
75. 5352660 c.7862_7863insCTC p.Ser2629dup inframe 0.00070922●●●●●●
76. 5428966 c.489C>T splice site 0.00067204●●●●●●
77. 5434080 c.334G>A p.A112T missense 0.00062775●●●●●●
78. 5413968 c.2947G>C p.A983P missense 0.00062344●●●●●●
79. 5413967 c.2948C>T p.A983V missense 0.00062267●●●●●●
80. 5413974 c.2941G>A p.G981S missense 0.00058548●●●●●●
81. 5360831 c.6443-10A>C splice site 0.00057597●●●●●●
82. 5399045 c.4817C>T p.S1606L missense 0.00055478●●●●●●
83. 5352462 c.8060C>A p.P2687H missense 0.00055321●●●●●●
84. 5352564 c.7958C>T p.S2653F missense 0.00054054●●●●●●
85. 5385432 c.5480C>T p.S1827L missense 0.00052862●●●●●●
86. 5413997 c.2918G>A p.R973Q missense 0.00052854●●●●●●
87. 5413851 c.3064G>A p.A1022T missense 0.00052549●●●●●●
88. 5428802 c.653C>T p.P218L missense 0.00051573●●●●●●
89. 5434234 c.188-8C>G splice site 0.00051361●●●●●●
90. 5427524 c.1931C>A p.A644E missense 0.00050265●●●●●●
91. 5385271 c.5641G>T p.V1881L missense 0.00048977●●●●●●
92. 5413806 c.3109G>A p.A1037T missense 0.00048497●●●●●●
93. 5413806 c.3109G>T p.A1037S missense 0.00048497●●●●●●
94. 5353003 c.7519G>C p.A2507P missense 0.00048446●●●●●●
95. 5352802 c.7720_7731dupAGCAGCAGCAGC p.Ser2574_Ser2577dup inframe 0.00047677●●●●●●
96. 5402292 c.4384A>G p.K1462E missense 0.00046653●●●●●●
97. 5428880 c.575C>T p.S192L missense 0.00046041●●●●●●
98. 5396888 c.4853_4855delAGA p.Lys1618del inframe 0.00045507●●●●●●
99. 5428851 c.604C>T p.R202W missense 0.00043956●●●●●●
100. 5410386 c.3839C>T p.A1280V missense 0.00042457●●●●●●
101. 5352803 c.7719_7720insAGC p.Ser2577dup inframe 0.00040866●●●●●●
102. 5347941 c.8703C>T p.R2901R splice site 0.00040674●●●●●●
103. 5391615 c.5305A>G p.S1769G missense 0.00040635●●●●●●
104. 5348503 c.8700+3A>C splice site 0.00039669●●●●●●
105. 5352938 c.7584G>T p.E2528D missense 0.00039453●●●●●●
106. 5413842 c.3073G>A p.A1025T missense 0.00038880●●●●●●
107. 5413956 c.2959G>A p.G987S missense 0.00037850●●●●●●
108. 5427945 c.1510_1512dupACC p.Thr504dup inframe 0.00037624●●●●●●
109. 5413811 c.3104C>T p.P1035L missense 0.00037064●●●●●●
110. 5352654 c.7868_7869insATC p.Ser2623dup inframe 0.00036919●●●●●●
111. 5427374 c.2081G>C p.S694T missense 0.00034536●●●●●●
112. 5428094 c.1361C>T p.P454L missense 0.00034060●●●●●●
113. 5352802 c.7720_7731delAGCAGCAGCAGC p.Ser2574_Ser2577del inframe 0.00034055●●●●●●
114. 5413782 c.3133A>G p.I1045V missense 0.00033801●●●●●●
115. 5347762 c.8882C>T p.T2961M missense 0.00033052●●●●●●
116. 5427904 c.1551C>A p.N517K missense 0.00032957●●●●●●
117. 5428779 c.676C>T p.R226C missense 0.00031526●●●●●●
118. 5372635 c.5765G>A p.R1922H missense 0.00030082●●●●●●
119. 5413947 c.2968G>A p.V990M missense 0.00028329●●●●●●
120. 5353444 c.7078A>T p.T2360S missense 0.00028244●●●●●●
121. 5353161 c.7361C>T p.P2454L missense 0.00028024●●●●●●
122. 5352818 c.7704_7705insGGCAGCAGT p.Gly2566_Ser2568dup inframe 0.00027855●●●●●●
123. 5417061 c.2402C>T p.T801M missense 0.00027388●●●●●●
124. 5410592 c.3633G>C p.Q1211H missense 0.00027368●●●●●●
125. 5428972 c.488-5C>T splice site 0.00026709●●●●●●
126. 5410552 c.3673G>A p.G1225R missense 0.00026577●●●●●●
127. 5410674 c.3551C>T p.A1184V missense 0.00026152●●●●●●
128. 5413943 c.2972G>A p.S991N missense 0.00026110●●●●●●
129. 5415855 c.2609C>T p.A870V missense 0.00025983●●●●●●
130. 5410443 c.3782C>T p.P1261L missense 0.00025958●●●●●●
131. 5428794 c.661G>A p.G221S missense 0.00025826●●●●●●
132. 5399048 c.4814C>T p.S1605L missense 0.00025669●●●●●●
133. 5460733 c.145C>T p.P49S missense 0.00025432●●●●●●
134. 5414027 c.2888T>C p.L963P missense 0.00025183●●●●●●
135. 5352964 c.7558G>A p.A2520T missense 0.00024978●●●●●●
136. 5417041 c.2422T>A p.S808T missense 0.00024665●●●●●●
137. 5352626 c.7896_7919dupTTCCTCCTCCTCCTCTTCCTCCTC p.Ser2633_Ser2640dup inframe 0.00024606●●●●●●
138. 5428527 c.928C>T p.R310W missense 0.00024178●●●●●●
139. 5428916 c.539C>T p.A180V missense 0.00024166●●●●●●
140. 5415667 c.2797G>A p.V933M missense 0.00024136●●●●●●
141. 5427731 c.1724C>T p.A575V missense 0.00023935●●●●●●
142. 5352659 c.7863_7886delCTCCTCCTCCTCCTCCTCCTCCTC p.Ser2622_Ser2629del inframe 0.00023641●●●●●●
143. 5352168 c.8354G>A p.R2785Q missense 0.00023597●●●●●●
144. 5428872 c.583C>G p.P195A missense 0.00023159●●●●●●
145. 5428875 c.580G>C p.A194P missense 0.00023137●●●●●●
146. 5427957 c.1498C>T p.R500C missense 0.00023051●●●●●●
147. 5427779 c.1676C>T p.P559L missense 0.00023049●●●●●●
148. 5402358 c.4318C>G p.P1440A missense 0.00023029●●●●●●
149. 5427558 c.1897G>T p.A633S missense 0.00022777●●●●●●
150. 5414016 c.2899G>A p.G967S missense 0.00022758●●●●●●
151. 5352694 c.7828G>A p.A2610T missense 0.00022519●●●●●●
152. 5353447 c.7075A>G p.S2359G missense 0.00022387●●●●●●
153. 5352587 c.7935_7940delGTCTTC p.Ser2647_Ser2648del inframe 0.00022104●●●●●●
154. 5414087 c.2828G>A p.R943Q missense 0.00021626●●●●●●
155. 5399082 c.4780G>T p.G1594W missense 0.00021529●●●●●●
156. 5413876 c.3039G>T p.E1013D missense 0.00021515●●●●●●
157. 5428857 c.598T>C p.S200P missense 0.00021331●●●●●●
158. 5410464 c.3761T>C p.L1254P missense 0.00020859●●●●●●
159. 5413775 c.3140G>A p.R1047H missense 0.00020715●●●●●●
160. 5417647 c.2161C>G p.R721G missense 0.00020524●●●●●●
161. 5347948 c.8701-5C>T splice site 0.00020339●●●●●●
162. 5430253 c.350C>G p.S117C missense 0.00020296●●●●●●
163. 5460725 c.153G>T p.K51N missense 0.00020088●●●●●●
164. 5430230 c.373C>T p.P125S missense 0.00019595●●●●●●
165. 5401292 c.4594C>T p.R1532W missense 0.00019301●●●●●●
166. 5417609 c.2199C>A p.H733Q missense 0.00019300●●●●●●
167. 5427467 c.1988C>T p.A663V missense 0.00019274●●●●●●
168. 5415662 c.2799+3A>G splice site 0.00018901●●●●●●
169. 5427647 c.1808G>A p.R603H missense 0.00018003●●●●●●
170. 5428938 c.517C>G p.P173A missense 0.00017637●●●●●●
171. 5402282 c.4394G>A p.R1465Q missense 0.00017501●●●●●●
172. 5402448 c.4228C>T p.R1410W missense 0.00017315●●●●●●
173. 5402315 c.4361A>G p.K1454R missense 0.00016861●●●●●●
174. 5354630 c.7012G>A p.A2338T missense 0.00016769●●●●●●
175. 5427575 c.1880C>T p.S627F missense 0.00016353●●●●●●
176. 5415832 c.2632G>A p.V878I missense 0.00016119●●●●●●
177. 5352552 c.7970C>T p.S2657F missense 0.00015985●●●●●●
178. 5352450 c.8072C>T p.A2691V missense 0.00015658●●●●●●
179. 5428089 c.1366C>A p.P456T missense 0.00014863●●●●●●
180. 5352546 c.7976C>T p.S2659F missense 0.00014793●●●●●●
181. 5347942 c.8702G>A p.R2901H missense 0.00014704●●●●●●
182. 5354619 c.7023G>T p.K2341N missense 0.00014691●●●●●●
183. 5396548 c.5193C>T splice site 0.00014265●●●●●●
184. 5348559 c.8647C>T p.R2883C missense 0.00014111●●●●●●
185. 5347801 c.8843C>T p.A2948V missense 0.00013891●●●●●●
186. 5352802 c.7720_7728delAGCAGCAGC p.Ser2575_Ser2577del inframe 0.00013622●●●●●●
187. 5352802 c.7720_7725delAGCAGC p.Ser2576_Ser2577del inframe 0.00013622●●●●●●
188. 5428967 c.488A>G p.D163G missense 0.00013351●●●●●●
189. 5428973 c.488-6C>T splice site 0.00013280●●●●●●
190. 5416999 c.2461+3G>C splice site 0.00013189●●●●●●
191. 5402358 c.4318C>T p.P1440S missense 0.00013160●●●●●●
192. 5410732 c.3493A>G p.M1165V missense 0.00013157●●●●●●
193. 5416522 c.2564C>T p.S855L missense 0.00012934●●●●●●
194. 5401259 c.4627C>A p.R1543S missense 0.00012895●●●●●●
195. 5353234 c.7288A>C p.M2430L missense 0.00012269●●●●●●
196. 5352850 c.7672G>A p.E2558K missense 0.00012249●●●●●●
197. 5427991 c.1464A>C p.Q488H missense 0.00012070●●●●●●
198. 5385230 c.5682G>C p.Q1894H missense 0.00011919●●●●●●
199. 5363834 c.6442+11G>A splice site 0.00011882●●●●●●
200. 5354691 c.6951_6953delTGG p.Gly2318del inframe 0.00011803●●●●●●
201. 5415828 c.2636C>T p.P879L missense 0.00011632●●●●●●
202. 5352531 c.7991_7992insCTC p.Ser2665dup inframe 0.00011489●●●●●●
203. 5401267 c.4619C>T p.S1540L missense 0.00011422●●●●●●
204. 5391569 c.5351C>G p.A1784G missense 0.00011410●●●●●●
205. 5391572 c.5348C>T p.A1783V missense 0.00011374●●●●●●
206. 0 c.2152+12G>C splice site 0.00011371●●●●●●
207. 5360697 c.6560+7G>A splice site 0.00011342●●●●●●
208. 5354677 c.6965C>T p.S2322L missense 0.00011328●●●●●●
209. 5353005 c.7517C>T p.P2506L missense 0.00011185●●●●●●
210. 5355707 c.6746-4A>G splice site 0.00010963●●●●●●
211. 5399119 c.4743G>T p.E1581D missense 0.00010764●●●●●●
212. 5372418 c.5982G>C p.W1994C missense 0.00010716●●●●●●
213. 5417032 c.2431G>A p.A811T missense 0.00010587●●●●●●
214. 5372512 c.5888T>C p.L1963P missense 0.00010555●●●●●●
215. 5364885 c.6148-6C>A splice site 0.00010525●●●●●●
216. 5401540 c.4520G>A p.R1507H missense 0.00010481●●●●●●
217. 5372408 c.5992C>T p.R1998C missense 0.00010397●●●●●●
218. 5410558 c.3667G>A p.V1223M missense 0.00010267●●●●●●
219. 5353009 c.7513C>G p.P2505A missense 0.00010242●●●●●●
220. 5353318 c.7204G>A p.A2402T missense 0.00010148●●●●●●
221. 5347827 c.8817G>C p.Q2939H missense 0.00010131●●●●●●
222. 5401282 c.4604C>T p.A1535V missense 0.00010106●●●●●●
223. 5415657 c.2799+8G>A splice site 0.00010103●●●●●●
224. 5417590 c.2218G>A p.G740R missense 0.00010074●●●●●●
225. 5434220 c.194C>A p.A65D missense 0.00009947●●●●●●
226. 5415658 c.2799+7C>T splice site 0.00009921●●●●●●
227. 5353222 c.7300C>T p.R2434C missense 0.00009861●●●●●●
228. 5413799 c.3116C>T p.P1039L missense 0.00009835●●●●●●
229. 5352460 c.8062G>A p.A2688T missense 0.00009730●●●●●●
230. 5401541 c.4519C>T p.R1507C missense 0.00009688●●●●●●
231. 5372528 c.5872C>G p.P1958A missense 0.00009529●●●●●●
232. 5396866 c.4875G>C p.Q1625H missense 0.00009512●●●●●●
233. 5352997 c.7525G>A p.G2509S missense 0.00009349●●●●●●
234. 5414042 c.2873C>A p.A958E missense 0.00009311●●●●●●
235. 5428049 c.1406A>C p.E469A missense 0.00009191●●●●●●
236. 5417118 c.2345G>A p.G782D missense 0.00008943●●●●●●
237. 5402298 c.4378C>T p.R1460C missense 0.00008938●●●●●●
238. 5348546 c.8660C>T p.A2887V missense 0.00008922●●●●●●
239. 5417112 c.2351C>T p.A784V missense 0.00008845●●●●●●
240. 5410756 c.3469G>C p.E1157Q missense 0.00008821●●●●●●
241. 5401345 c.4541G>A p.R1514H missense 0.00008794●●●●●●
242. 5415860 c.2609-5T>C splice site 0.00008763●●●●●●
243. 5417124 c.2339C>T p.T780M missense 0.00008703●●●●●●
244. 5354686 c.6956C>T p.T2319M missense 0.00008697●●●●●●
245. 5391650 c.5270C>T p.T1757M missense 0.00008476●●●●●●
246. 5416585 c.2501C>T p.A834V missense 0.00008425●●●●●●
247. 5372344 c.6056C>G p.P2019R missense 0.00008275●●●●●●
248. 5413813 c.3102_3116delGCCGCCCGCCTCCCC p.Pro1035_Pro1039del inframe 0.00008259●●●●●●
249. 5417077 c.2386G>A p.A796T missense 0.00008187●●●●●●
250. 5347802 c.8842G>A p.A2948T missense 0.00008137●●●●●●
251. 5385207 c.5705G>A p.R1902Q missense 0.00007852●●●●●●
252. 5372620 c.5780C>T p.A1927V missense 0.00007851●●●●●●
253. 5348558 c.8648G>A p.R2883H missense 0.00007807●●●●●●
254. 5427807 c.1648G>A p.A550T missense 0.00007756●●●●●●
255. 5410585 c.3640G>A p.A1214T missense 0.00007695●●●●●●
256. 5352524 c.7998_8006delCTCCTCTTC p.Ser2667_Ser2669del inframe 0.00007686●●●●●●
257. 5410951 c.3274G>A p.G1092R missense 0.00007635●●●●●●
258. 5372326 c.6074G>A p.R2025H missense 0.00007630●●●●●●
259. 5401242 c.4644C>G p.S1548R missense 0.00007588●●●●●●
260. 5347947 c.8701-4G>A splice site 0.00007535●●●●●●
261. 5354641 c.7001G>A p.R2334Q missense 0.00007501●●●●●●
262. 5410471 c.3754G>A p.E1252K missense 0.00007497●●●●●●
263. 5427810 c.1645A>G p.K549E missense 0.00007440●●●●●●
264. 5401530 c.4530C>T splice site 0.00007359●●●●●●
265. 5410390 c.3835C>G p.L1279V missense 0.00007291●●●●●●
266. 5353174 c.7348G>T p.G2450C missense 0.00007271●●●●●●
267. 5414087 c.2828G>T p.R943L missense 0.00007209●●●●●●
268. 5410905 c.3320C>G p.A1107G missense 0.00007205●●●●●●
269. 5414099 c.2816C>T p.A939V missense 0.00007147●●●●●●
270. 5415817 c.2647C>T p.P883S missense 0.00007074●●●●●●
271. 5352706 c.7816A>C p.S2606R missense 0.00007049●●●●●●
272. 5410665 c.3560T>C p.M1187T missense 0.00006936●●●●●●
273. 5372563 c.5837C>T p.P1946L missense 0.00006887●●●●●●
274. 5385351 c.5561G>A p.R1854Q missense 0.00006872●●●●●●
275. 5385409 c.5503_5505delGAG p.Glu1835del inframe 0.00006866●●●●●●
276. 5415814 c.2650G>A p.A884T missense 0.00006831●●●●●●
277. 5352727 c.7795G>A p.G2599S missense 0.00006816●●●●●●
278. 5353456 c.7066G>A p.E2356K missense 0.00006812●●●●●●
279. 5410884 c.3341T>G p.V1114G missense 0.00006810●●●●●●
280. 5402366 c.4310T>C p.V1437A missense 0.00006794●●●●●●
281. 5385407 c.5505_5519delGCTCGAGGAGGAGGA p.Glu1835_Glu1839del inframe 0.00006782●●●●●●
282. 5348935 c.8453T>G p.M2818R missense 0.00006771●●●●●●
283. 5410188 c.4037C>T p.A1346V missense 0.00006710●●●●●●
284. 5401258 c.4628G>A p.R1543H missense 0.00006643●●●●●●
285. 5428002 c.1453C>G p.P485A missense 0.00006626●●●●●●
286. 5352946 c.7576G>A p.A2526T missense 0.00006615●●●●●●
287. 5416999 c.2461+3G>A splice site 0.00006595●●●●●●
288. 5352936 c.7586C>T p.P2529L missense 0.00006577●●●●●●
289. 5372285 c.6115G>A p.G2039R missense 0.00006569●●●●●●
290. 5415805 c.2659C>A p.P887T missense 0.00006567●●●●●●
291. 5372569 c.5831C>T p.A1944V missense 0.00006551●●●●●●
292. 5352933 c.7589G>A p.G2530E missense 0.00006550●●●●●●
293. 5352930 c.7592C>T p.P2531L missense 0.00006545●●●●●●
294. 5427765 c.1690A>T p.T564S missense 0.00006497●●●●●●
295. 5352955 c.7567G>A p.G2523R missense 0.00006390●●●●●●
296. 5385339 c.5573C>T p.P1858L missense 0.00006383●●●●●●
297. 5352751 c.7771G>A p.G2591R missense 0.00006373●●●●●●
298. 5428022 c.1433C>T p.A478V missense 0.00006366●●●●●●
299. 5352958 c.7564G>A p.D2522N missense 0.00006353●●●●●●
300. 5402355 c.4321C>T p.L1441F missense 0.00006316●●●●●●
301. 5410915 c.3310G>A p.A1104T missense 0.00006280●●●●●●
302. 5352963 c.7559C>T p.A2520V missense 0.00006259●●●●●●
303. 5352867 c.7655A>G p.D2552G missense 0.00006254●●●●●●
304. 5427773 c.1682C>T p.S561L missense 0.00006208●●●●●●
305. 5416629 c.2462-5C>T splice site 0.00006201●●●●●●
306. 5410759 c.3466C>T p.R1156W missense 0.00006186●●●●●●
307. 5391470 c.5450C>T p.S1817L missense 0.00006179●●●●●●
308. 5401628 c.4432G>A p.A1478T missense 0.00006173●●●●●●
309. 5430179 c.424C>T p.L142F missense 0.00006150●●●●●●
310. 5416628 c.2462-4C>T splice site 0.00006149●●●●●●
311. 5413787 c.3128C>T p.P1043L missense 0.00006122●●●●●●
312. 5353168 c.7354C>T p.R2452W missense 0.00006116●●●●●●
313. 5427315 c.2140A>C p.S714R missense 0.00006108●●●●●●
314. 5427327 c.2128T>C p.S710P missense 0.00006107●●●●●●
315. 5427776 c.1679G>T p.R560L missense 0.00006092●●●●●●
316. 5410374 c.3851C>T p.P1284L missense 0.00005988●●●●●●
317. 5401537 c.4523G>A p.R1508Q missense 0.00005982●●●●●●
318. 5355643 c.6806C>T p.T2269M missense 0.00005874●●●●●●
319. 5353020 c.7502T>C p.L2501P missense 0.00005872●●●●●●
320. 5417002 c.2461G>A p.G821S missense 0.00005746●●●●●●
321. 5427723 c.1732G>A p.G578R missense 0.00005737●●●●●●
322. 5348520 c.8686A>G p.K2896E missense 0.00005727●●●●●●
323. 5354787 c.6863-8C>A splice site 0.00005717●●●●●●
324. 5427719 c.1736C>G p.S579C missense 0.00005711●●●●●●
325. 5402447 c.4229G>A p.R1410Q missense 0.00005707●●●●●●
326. 5416619 c.2467G>T p.G823C missense 0.00005668●●●●●●
327. 5427713 c.1742A>G p.E581G missense 0.00005662●●●●●●
328. 5385241 c.5671G>C p.E1891Q missense 0.00005628●●●●●●
329. 5396888 c.4853A>T p.K1618M missense 0.00005627●●●●●●
330. 5353050 c.7472G>A p.G2491D missense 0.00005615●●●●●●
331. 5417083 c.2380G>A p.D794N missense 0.00005599●●●●●●
332. 5427953 c.1502C>T p.P501L missense 0.00005589●●●●●●
333. 5428016 c.1439G>A p.R480H missense 0.00005561●●●●●●
334. 5401538 c.4522C>T p.R1508W missense 0.00005561●●●●●●
335. 5427704 c.1751C>T p.A584V missense 0.00005551●●●●●●
336. 5396885 c.4856T>C p.M1619T missense 0.00005550●●●●●●
337. 5417136 c.2327A>G p.N776S missense 0.00005539●●●●●●
338. 5410165 c.4060G>C p.A1354P missense 0.00005520●●●●●●
339. 5353185 c.7337C>T p.S2446L missense 0.00005481●●●●●●
340. 5410959 c.3266C>T p.P1089L missense 0.00005475●●●●●●
341. 5401274 c.4612G>A p.A1538T missense 0.00005461●●●●●●
342. 5417003 c.2460C>T splice site 0.00005329●●●●●●
343. 5396790 c.4951A>G p.S1651G missense 0.00005324●●●●●●
344. 5364887 c.6148-8T>G splice site 0.00005308●●●●●●
345. 5410758 c.3467G>A p.R1156Q missense 0.00005297●●●●●●
346. 5364886 c.6148-7C>G splice site 0.00005256●●●●●●
347. 5364883 c.6148-4C>T splice site 0.00005248●●●●●●
348. 5352451 c.8071G>A p.A2691T missense 0.00005238●●●●●●
349. 5353350 c.7172C>T p.P2391L missense 0.00005204●●●●●●
350. 5364861 c.6166G>T p.A2056S missense 0.00005162●●●●●●
351. 5401279 c.4607C>T p.P1536L missense 0.00005157●●●●●●
352. 5434234 c.188-8C>T splice site 0.00005136●●●●●●
353. 5396579 c.5162C>T p.P1721L missense 0.00005135●●●●●●
354. 5353374 c.7148G>A p.R2383Q missense 0.00005115●●●●●●
355. 5409999 c.4219+7G>A splice site 0.00005065●●●●●●
356. 5427688 c.1767A>G p.I589M missense 0.00005045●●●●●●
357. 5401283 c.4603G>A p.A1535T missense 0.00005041●●●●●●
358. 5364779 c.6248C>T p.T2083I missense 0.00005038●●●●●●
359. 5364792 c.6235G>A p.A2079T missense 0.00005033●●●●●●
360. 5415705 c.2759C>T p.A920V missense 0.00005014●●●●●●
361. 5417062 c.2401A>C p.T801P missense 0.00004993●●●●●●
362. 5417040 c.2423C>T p.S808L missense 0.00004988●●●●●●
363. 5399109 c.4753G>T p.A1585S missense 0.00004968●●●●●●
364. 5427945 c.1510A>G p.T504A missense 0.00004944●●●●●●
365. 5352483 c.8039G>A p.S2680N missense 0.00004884●●●●●●
366. 5347748 c.8896G>A p.V2966M missense 0.00004837●●●●●●
367. 5410140 c.4085C>T p.A1362V missense 0.00004813●●●●●●
368. 5352996 c.7526G>C p.G2509A missense 0.00004789●●●●●●
369. 5401297 c.4589G>A p.R1530Q missense 0.00004755●●●●●●
370. 5401559 c.4501C>G p.L1501V missense 0.00004739●●●●●●
371. 5401298 c.4588C>T p.R1530W missense 0.00004727●●●●●●
372. 5352480 c.8042C>G p.S2681W missense 0.00004724●●●●●●
373. 5410369 c.3856G>A p.E1286K missense 0.00004721●●●●●●
374. 5410989 c.3236C>T p.P1079L missense 0.00004711●●●●●●
375. 5352997 c.7525G>C p.G2509R missense 0.00004675●●●●●●
376. 5352997 c.7525G>T p.G2509C missense 0.00004675●●●●●●
377. 5427792 c.1663G>C p.G555R missense 0.00004659●●●●●●
378. 5348511 c.8695A>G p.M2899V missense 0.00004577●●●●●●
379. 5396609 c.5132C>T p.A1711V missense 0.00004568●●●●●●
380. 5427987 c.1468G>A p.A490T missense 0.00004567●●●●●●
381. 5427665 c.1790G>T p.R597L missense 0.00004504●●●●●●
382. 5417007 c.2456C>T p.P819L missense 0.00004489●●●●●●
383. 5410146 c.4079C>T p.P1360L missense 0.00004477●●●●●●
384. 5410782 c.3443C>T p.P1148L missense 0.00004472●●●●●●
385. 5391545 c.5375C>T p.P1792L missense 0.00004455●●●●●●
386. 5410969 c.3256G>T p.A1086S missense 0.00004451●●●●●●
387. 5415863 c.2609-8C>T splice site 0.00004435●●●●●●
388. 5396672 c.5069C>T p.S1690F missense 0.00004422●●●●●●
389. 5427797 c.1658A>C p.D553A missense 0.00004422●●●●●●
390. 5396675 c.5066A>T p.K1689I missense 0.00004421●●●●●●
391. 5353326 c.7196C>T p.A2399V missense 0.00004375●●●●●●
392. 5396733 c.5008G>A p.D1670N missense 0.00004364●●●●●●
393. 5427984 c.1471G>A p.A491T missense 0.00004345●●●●●●
394. 5396741 c.5000C>A p.T1667N missense 0.00004332●●●●●●
395. 5416588 c.2498C>G p.P833R missense 0.00004321●●●●●●
396. 5413796 c.3119C>T p.P1040L missense 0.00004311●●●●●●
397. 5347754 c.8890G>A p.V2964M missense 0.00004280●●●●●●
398. 5415841 c.2623C>T p.R875W missense 0.00004278●●●●●●
399. 5372611 c.5789T>A p.L1930Q missense 0.00004259●●●●●●
400. 5391663 c.5257A>C p.S1753R missense 0.00004256●●●●●●
401. 5415850 c.2614C>G p.L872V missense 0.00004247●●●●●●
402. 5347757 c.8887G>A p.G2963S missense 0.00004231●●●●●●
403. 5391627 c.5293G>A p.V1765M missense 0.00004226●●●●●●
404. 5354607 c.7027+8G>A splice site 0.00004198●●●●●●
405. 5401544 c.4516C>T p.R1506C missense 0.00004189●●●●●●
406. 5410327 c.3898G>A p.A1300T missense 0.00004173●●●●●●
407. 5427549 c.1906C>T p.R636C missense 0.00004128●●●●●●
408. 5353002 c.7520C>T p.A2507V missense 0.00004128●●●●●●
409. 5410908 c.3317A>C p.D1106A missense 0.00004116●●●●●●
410. 5434119 c.295C>G p.P99A missense 0.00004108●●●●●●
411. 5427803 c.1652A>C p.Y551S missense 0.00004086●●●●●●
412. 5396759 c.4982G>A p.G1661D missense 0.00004082●●●●●●
413. 5427536 c.1919C>G p.S640C missense 0.00004060●●●●●●
414. 5415832 c.2632G>T p.V878L missense 0.00004030●●●●●●
415. 5396763 c.4978G>A p.G1660R missense 0.00003973●●●●●●
416. 5434130 c.284G>T p.R95L missense 0.00003957●●●●●●
417. 5427527 c.1928C>T p.P643L missense 0.00003942●●●●●●
418. 5353085 c.7437G>C p.E2479D missense 0.00003938●●●●●●
419. 5427852 c.1603G>T p.A535S missense 0.00003922●●●●●●
420. 5402409 c.4267G>A p.A1423T missense 0.00003916●●●●●●
421. 5402274 c.4395+7G>A splice site 0.00003907●●●●●●
422. 5410882 c.3343C>T p.P1115S missense 0.00003896●●●●●●
423. 5434132 c.282C>A p.F94L missense 0.00003851●●●●●●
424. 5402406 c.4270G>C p.A1424P missense 0.00003848●●●●●●
425. 5402275 c.4395+6C>A splice site 0.00003842●●●●●●
426. 5347778 c.8866G>A p.G2956S missense 0.00003797●●●●●●
427. 5427809 c.1646A>C p.K549T missense 0.00003757●●●●●●
428. 5360242 c.6561-4A>G splice site 0.00003732●●●●●●
429. 5354642 c.7000C>T p.R2334W missense 0.00003728●●●●●●
430. 5415825 c.2639C>T p.P880L missense 0.00003721●●●●●●
431. 5396771 c.4970A>C p.K1657T missense 0.00003702●●●●●●
432. 5402394 c.4282A>T p.M1428L missense 0.00003678●●●●●●
433. 5363846 c.6441G>A splice site 0.00003657●●●●●●
434. 5410093 c.4132G>T p.V1378F missense 0.00003652●●●●●●
435. 5410482 c.3743A>G p.Q1248R missense 0.00003651●●●●●●
436. 5410825 c.3400C>T p.R1134C missense 0.00003649●●●●●●
437. 5427884 c.1571C>T p.A524V missense 0.00003644●●●●●●
438. 5410486 c.3739G>T p.V1247L missense 0.00003632●●●●●●
439. 5410417 c.3808G>A p.V1270M missense 0.00003629●●●●●●
440. 5427816 c.1639_1641delTCC p.Ser547del inframe 0.00003603●●●●●●
441. 5354654 c.6988C>T p.R2330C missense 0.00003587●●●●●●
442. 5355698 c.6751C>G p.L2251V missense 0.00003555●●●●●●
443. 5417017 c.2446G>A p.A816T missense 0.00003539●●●●●●
444. 5348587 c.8626-7C>A splice site 0.00003522●●●●●●
445. 5372629 c.5771G>A p.R1924Q missense 0.00003519●●●●●●
446. 5427815 c.1640C>T p.S547F missense 0.00003517●●●●●●
447. 5410707 c.3518C>T p.P1173L missense 0.00003515●●●●●●
448. 5410692 c.3533C>T p.P1178L missense 0.00003511●●●●●●
449. 5416564 c.2522G>A p.G841D missense 0.00003494●●●●●●
450. 5410365 c.3860C>A p.S1287Y missense 0.00003492●●●●●●
451. 5410100 c.4125G>T p.E1375D missense 0.00003476●●●●●●
452. 5410670 c.3555A>C p.E1185D missense 0.00003475●●●●●●
453. 5391687 c.5233G>A p.E1745K missense 0.00003470●●●●●●
454. 5410540 c.3685C>T p.R1229W missense 0.00003448●●●●●●
455. 5396808 c.4933C>T p.P1645S missense 0.00003439●●●●●●
456. 5410611 c.3614C>T p.A1205V missense 0.00003430●●●●●●
457. 5353009 c.7513C>T p.P2505S missense 0.00003414●●●●●●
458. 5391662 c.5258G>A p.S1753N missense 0.00003405●●●●●●
459. 5348869 c.8519G>A p.R2840H missense 0.00003383●●●●●●
460. 5427927 c.1528T>G p.W510G missense 0.00003381●●●●●●
461. 5427818 c.1637C>G p.S546C missense 0.00003378●●●●●●
462. 5348912 c.8476G>A p.V2826M missense 0.00003376●●●●●●
463. 5415813 c.2651C>T p.A884V missense 0.00003372●●●●●●
464. 5417619 c.2189G>A p.R730Q missense 0.00003364●●●●●●
465. 5417617 c.2191G>T p.A731S missense 0.00003363●●●●●●
466. 5410199 c.4026G>A p.M1342I missense 0.00003362●●●●●●
467. 5348577 c.8629T>C p.W2877R missense 0.00003357●●●●●●
468. 5363974 c.6313G>A p.G2105R missense 0.00003350●●●●●●
469. 5372635 c.5765G>T p.R1922L missense 0.00003342●●●●●●
470. 5353321 c.7201C>T p.P2401S missense 0.00003320●●●●●●
471. 5427858 c.1597A>G p.S533G missense 0.00003317●●●●●●
472. 5363850 c.6437C>T p.T2146I missense 0.00003316●●●●●●
473. 5399207 c.4662-7G>A splice site 0.00003313●●●●●●
474. 5415801 c.2663C>T p.P888L missense 0.00003273●●●●●●
475. 5410951 c.3274G>T p.G1092W missense 0.00003272●●●●●●
476. 5372682 c.5720-2A>C essential splice site 0.00003255●●●●●●
477. 5353013 c.7509C>G p.S2503R missense 0.00003230●●●●●●
478. 5415796 c.2668C>T p.R890C missense 0.00003228●●●●●●
479. 5427822 c.1633T>G p.S545A missense 0.00003222●●●●●●
480. 5348498 c.8700+8G>A splice site 0.00003215●●●●●●
481. 5417205 c.2258A>T p.E753V missense 0.00003212●●●●●●
482. 5396871 c.4870_4872delGAG p.Glu1624del inframe 0.00003207●●●●●●
483. 5417204 c.2259G>C p.E753D missense 0.00003203●●●●●●
484. 5417204 c.2259G>T p.E753D missense 0.00003203●●●●●●
485. 5410921 c.3304A>G p.T1102A missense 0.00003185●●●●●●
486. 5353014 c.7508G>A p.S2503N missense 0.00003184●●●●●●
487. 5415804 c.2660C>T p.P887L missense 0.00003184●●●●●●
488. 5396781 c.4960G>A p.G1654R missense 0.00003181●●●●●●
489. 5372677 c.5723C>G p.T1908R missense 0.00003170●●●●●●
490. 5427824 c.1631C>T p.A544V missense 0.00003155●●●●●●
491. 5353056 c.7466C>T p.A2489V missense 0.00003143●●●●●●
492. 5427825 c.1630G>A p.A544T missense 0.00003131●●●●●●
493. 5415663 c.2799+2T>C essential splice site 0.00003127●●●●●●
494. 5402352 c.4324A>G p.K1442E missense 0.00003119●●●●●●
495. 5402351 c.4325A>G p.K1442R missense 0.00003103●●●●●●
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522. 5360246 c.6561-8T>C splice site 0.00002837●●●●●●
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524. 5417179 c.2284C>T p.R762C missense 0.00002818●●●●●●
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527. 5417141 c.2322C>A p.N774K missense 0.00002761●●●●●●
528. 5410818 c.3407C>T p.S1136F missense 0.00002721●●●●●●
529. 5417155 c.2308C>T p.P770S missense 0.00002695●●●●●●
530. 5410128 c.4097A>G p.Q1366R missense 0.00002673●●●●●●
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532. 5427875 c.1580C>G p.A527G missense 0.00002638●●●●●●
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535. 5410678 c.3547G>A p.A1183T missense 0.00002616●●●●●●
536. 5401670 c.4396-6C>G splice site 0.00002605●●●●●●
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539. 5413776 c.3139C>T p.R1047C missense 0.00002590●●●●●●
540. 5410539 c.3686G>T p.R1229L missense 0.00002588●●●●●●
541. 5391678 c.5242G>A p.A1748T missense 0.00002585●●●●●●
542. 5354630 c.7012G>T p.A2338S missense 0.00002580●●●●●●
543. 5427948 c.1507C>T p.P503S missense 0.00002566●●●●●●
544. 5391669 c.5251C>T p.P1751S missense 0.00002566●●●●●●
545. 5348945 c.8443G>A p.G2815S missense 0.00002557●●●●●●
546. 5391623 c.5297C>G p.A1766G missense 0.00002537●●●●●●
547. 5348870 c.8518C>T p.R2840C missense 0.00002536●●●●●●
548. 5348930 c.8458C>T p.R2820C missense 0.00002535●●●●●●
549. 5415738 c.2726G>A p.R909Q missense 0.00002526●●●●●●
550. 5427476 c.1979G>A p.S660N missense 0.00002523●●●●●●
551. 5417592 c.2216T>G p.L739R missense 0.00002518●●●●●●
552. 5363982 c.6305G>A p.R2102H missense 0.00002512●●●●●●
553. 5415699 c.2765A>G p.Q922R missense 0.00002512●●●●●●
554. 5415705 c.2759C>A p.A920E missense 0.00002507●●●●●●
555. 5415742 c.2722delC p.Leu908CysfsTer30 frameshift 0.00002505●●●●●●
556. 5417044 c.2419C>T p.R807C missense 0.00002489●●●●●●
557. 5399057 c.4805A>G p.H1602R missense 0.00002484●●●●●●
558. 5399151 c.4711G>A p.G1571R missense 0.00002484●●●●●●
559. 5427837 c.1618G>A p.A540T missense 0.00002475●●●●●●
560. 5353225 c.7297A>G p.T2433A missense 0.00002464●●●●●●
561. 5353243 c.7279C>T p.L2427F missense 0.00002452●●●●●●
562. 5427992 c.1463A>C p.Q488P missense 0.00002447●●●●●●
563. 5354647 c.6995G>A p.R2332H missense 0.00002441●●●●●●
564. 5410995 c.3230A>G p.D1077G missense 0.00002399●●●●●●
565. 5363866 c.6421G>A p.V2141M missense 0.00002378●●●●●●
566. 5396903 c.4838A>C p.K1613T missense 0.00002346●●●●●●
567. 5353294 c.7228G>A p.E2410K missense 0.00002328●●●●●●
568. 5353290 c.7232C>T p.P2411L missense 0.00002322●●●●●●
569. 5427891 c.1564C>G p.Q522E missense 0.00002300●●●●●●
570. 5353071 c.7451G>T p.R2484L missense 0.00002291●●●●●●
571. 5360156 c.6636+7G>A splice site 0.00002279●●●●●●
572. 5347943 c.8701C>T p.R2901C missense 0.00002275●●●●●●
573. 5410977 c.3248C>T p.P1083L missense 0.00002270●●●●●●
574. 5353072 c.7450C>T p.R2484W missense 0.00002248●●●●●●
575. 5363872 c.6415G>A p.G2139R missense 0.00002217●●●●●●
576. 5401592 c.4468G>T p.V1490L missense 0.00002185●●●●●●
577. 5360160 c.6636+3G>A splice site 0.00002166●●●●●●
578. 5410938 c.3287C>A p.P1096H missense 0.00002154●●●●●●
579. 5353342 c.7180C>T p.P2394S missense 0.00002153●●●●●●
580. 5396875 c.4866C>A p.D1622E missense 0.00002145●●●●●●
581. 5410149 c.4076C>G p.S1359C missense 0.00002143●●●●●●
582. 5427600 c.1855A>G p.M619V missense 0.00002142●●●●●●
583. 5348788 c.8600C>T p.P2867L missense 0.00002118●●●●●●
584. 5401595 c.4465G>A p.E1489K missense 0.00002113●●●●●●
585. 5427594 c.1861C>T p.P621S missense 0.00002111●●●●●●
586. 5410425 c.3800C>T p.A1267V missense 0.00002106●●●●●●
587. 5348988 c.8400G>C p.M2800I missense 0.00002094●●●●●●
588. 5353348 c.7174G>A p.A2392T missense 0.00002093●●●●●●
589. 5427585 c.1870G>T p.A624S missense 0.00002083●●●●●●
590. 5427585 c.1870G>C p.A624P missense 0.00002083●●●●●●
591. 5353353 c.7169G>A p.R2390H missense 0.00002077●●●●●●
592. 5353353 c.7169G>T p.R2390L missense 0.00002077●●●●●●
593. 5353356 c.7166C>T p.A2389V missense 0.00002076●●●●●●
594. 5427548 c.1907G>A p.R636H missense 0.00002071●●●●●●
595. 5427561 c.1894C>G p.R632G missense 0.00002071●●●●●●
596. 5427558 c.1897G>A p.A633T missense 0.00002071●●●●●●
597. 5348791 c.8597G>A p.S2866N missense 0.00002069●●●●●●
598. 5353354 c.7168C>T p.R2390C missense 0.00002068●●●●●●
599. 5427546 c.1909C>T p.L637F missense 0.00002056●●●●●●
600. 5427566 c.1889C>T p.A630V missense 0.00002056●●●●●●
601. 5427462 c.1993G>A p.G665R missense 0.00002047●●●●●●
602. 5391477 c.5443G>A p.D1815N missense 0.00002018●●●●●●
603. 5363881 c.6406C>T p.P2136S missense 0.00001970●●●●●●
604. 5391720 c.5200G>A p.D1734N missense 0.00001959●●●●●●
605. 5353086 c.7436A>C p.E2479A missense 0.00001956●●●●●●
606. 5401565 c.4495C>T p.R1499C missense 0.00001955●●●●●●
607. 5427978 c.1477C>T p.L493F missense 0.00001953●●●●●●
608. 5410218 c.4007A>T p.E1336V missense 0.00001952●●●●●●
609. 5353443 c.7079C>T p.T2360I missense 0.00001948●●●●●●
610. 5427525 c.1930G>A p.A644T missense 0.00001947●●●●●●
611. 5353468 c.7054A>G p.N2352D missense 0.00001947●●●●●●
612. 5353445 c.7077T>A p.S2359R missense 0.00001947●●●●●●
613. 5353462 c.7060A>G p.T2354A missense 0.00001946●●●●●●
614. 5410875 c.3350C>T p.P1117L missense 0.00001934●●●●●●
615. 5430207 c.396C>A p.H132Q missense 0.00001932●●●●●●
616. 5410296 c.3929C>T p.P1310L missense 0.00001907●●●●●●
617. 5410858 c.3367C>T p.R1123C missense 0.00001883●●●●●●
618. 5410857 c.3368G>A p.R1123H missense 0.00001883●●●●●●
619. 5360244 c.6561-6C>T splice site 0.00001881●●●●●●
620. 5401605 c.4455G>A p.M1485I missense 0.00001880●●●●●●
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622. 5427446 c.2009G>C p.G670A missense 0.00001874●●●●●●
623. 5363890 c.6397G>A p.E2133K missense 0.00001867●●●●●●
624. 5410276 c.3949C>T p.L1317F missense 0.00001851●●●●●●
625. 5401611 c.4449C>G p.F1483L missense 0.00001827●●●●●●
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627. 5391521 c.5399T>A p.F1800Y missense 0.00001813●●●●●●
628. 5410816 c.3409C>T p.P1137S missense 0.00001813●●●●●●
629. 5410810 c.3415A>G p.K1139E missense 0.00001805●●●●●●
630. 5352430 c.8092G>T p.A2698S missense 0.00001803●●●●●●
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632. 5410500 c.3725C>T p.A1242V missense 0.00001785●●●●●●
633. 5391546 c.5374C>T p.P1792S missense 0.00001781●●●●●●
634. 5410774 c.3451G>A p.E1151K missense 0.00001778●●●●●●
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636. 5352403 c.8119G>C p.A2707P missense 0.00001772●●●●●●
637. 5348588 c.8626-8C>G splice site 0.00001766●●●●●●
638. 5410756 c.3469G>A p.E1157K missense 0.00001764●●●●●●
639. 5348587 c.8626-7C>T splice site 0.00001761●●●●●●
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643. 5430176 c.427_429delCTC p.Leu143del inframe 0.00001748●●●●●●
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648. 5348588 c.8626-8_8626-7dupCC splice site 0.00001741●●●●●●
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655. 5410617 c.3608C>T p.A1203V missense 0.00001717●●●●●●
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660. 5391659 c.5261C>G p.S1754C missense 0.00001700●●●●●●
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668. 5417587 c.2221G>A p.A741T missense 0.00001679●●●●●●
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670. 5355637 c.6812G>A p.R2271K missense 0.00001678●●●●●●
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680. 5399074 c.4788C>G p.N1596K missense 0.00001656●●●●●●
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684. 5416555 c.2531C>T p.P844L missense 0.00001563●●●●●●
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686. 5348553 c.8653C>T p.L2885F missense 0.00001553●●●●●●
687. 5427863 c.1592A>C p.H531P missense 0.00001553●●●●●●
688. 5348535 c.8671G>A p.V2891I missense 0.00001550●●●●●●
689. 5401574 c.4486G>C p.E1496Q missense 0.00001546●●●●●●
690. 5427864 c.1591C>G p.H531D missense 0.00001538●●●●●●
691. 5427864 c.1591C>T p.H531Y missense 0.00001538●●●●●●
692. 5347824 c.8820C>G p.D2940E missense 0.00001537●●●●●●
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694. 5348550 c.8656C>T p.P2886S missense 0.00001514●●●●●●
695. 5430263 c.344-4A>G splice site 0.00001501●●●●●●
696. 5348540 c.8666T>C p.L2889P missense 0.00001493●●●●●●
697. 5401576 c.4484A>G p.K1495R missense 0.00001492●●●●●●
698. 5430262 c.344-3C>T splice site 0.00001487●●●●●●
699. 5427959 c.1496G>A p.G499E missense 0.00001475●●●●●●
700. 5363856 c.6431C>T p.P2144L missense 0.00001453●●●●●●
701. 5430259 c.344G>A p.G115D missense 0.00001435●●●●●●
702. 5430259 c.344G>C p.G115A missense 0.00001435●●●●●●
703. 5427492 c.1963C>T p.P655S missense 0.00001416●●●●●●
704. 5348770 c.8618A>G p.Q2873R missense 0.00001383●●●●●●
705. 5363859 c.6428G>A p.R2143Q missense 0.00001364●●●●●●
706. 5427873 c.1582G>A p.A528T missense 0.00001351●●●●●●
707. 5347831 c.8813A>T p.Y2938F missense 0.00001346●●●●●●
708. 5348772 c.8616C>A p.H2872Q missense 0.00001329●●●●●●
709. 5363860 c.6427C>T p.R2143W missense 0.00001319●●●●●●
710. 5396822 c.4919A>G p.D1640G missense 0.00001303●●●●●●
711. 5396823 c.4918G>A p.D1640N missense 0.00001288●●●●●●
712. 5416538 c.2548G>T p.V850F missense 0.00001285●●●●●●
713. 5347950 c.8701-7C>T splice site 0.00001270●●●●●●
714. 5396825 c.4916A>G p.Q1639R missense 0.00001257●●●●●●
715. 5347947 c.8701-4G>T splice site 0.00001256●●●●●●
716. 5363862 c.6425A>G p.E2142G missense 0.00001255●●●●●●
717. 5416533 c.2553G>T p.R851S missense 0.00001239●●●●●●
718. 5353221 c.7301G>A p.R2434H missense 0.00001233●●●●●●
719. 5410399 c.3826G>A p.E1276K missense 0.00001231●●●●●●
720. 5401586 c.4474C>T p.R1492C missense 0.00001230●●●●●●
721. 5353216 c.7306A>G p.K2436E missense 0.00001226●●●●●●
722. 5416531 c.2555A>T p.D852V missense 0.00001223●●●●●●
723. 5353245 c.7277C>A p.P2426H missense 0.00001220●●●●●●
724. 5353248 c.7274C>T p.A2425V missense 0.00001215●●●●●●
725. 5410194 c.4031C>A p.A1344D missense 0.00001215●●●●●●
726. 5353209 c.7313A>C p.K2438T missense 0.00001209●●●●●●
727. 5410430 c.3795_3806delTGTGGCGGTGCC p.Val1266_Pro1269del inframe 0.00001205●●●●●●
728. 5410195 c.4030G>A p.A1344T missense 0.00001203●●●●●●
729. 5410378 c.3847G>A p.A1283T missense 0.00001202●●●●●●
730. 5427939 c.1516C>T p.P506S missense 0.00001200●●●●●●
731. 5348999 c.8389C>T p.R2797W missense 0.00001198●●●●●●
732. 5413770 c.3145G>A p.E1049K missense 0.00001197●●●●●●
733. 5416525 c.2561A>T p.Q854L missense 0.00001197●●●●●●
734. 5410420 c.3805C>T p.P1269S missense 0.00001194●●●●●●
735. 5353200 c.7322G>A p.R2441Q missense 0.00001192●●●●●●
736. 5396905 c.4836A>G splice site 0.00001179●●●●●●
737. 5354663 c.6979G>A p.A2327T missense 0.00001174●●●●●●
738. 5353255 c.7267G>A p.A2423T missense 0.00001174●●●●●●
739. 5354663 c.6979G>T p.A2327S missense 0.00001174●●●●●●
740. 5348997 c.8391G>A splice site 0.00001163●●●●●●
741. 5413766 c.3149A>C p.E1050A missense 0.00001160●●●●●●
742. 5416516 c.2570A>G p.Q857R missense 0.00001157●●●●●●
743. 5396899 c.4842T>G p.I1614M missense 0.00001157●●●●●●
744. 5353279 c.7243C>G p.L2415V missense 0.00001156●●●●●●
745. 5427484 c.1971_1979delGCCCGAGAG p.Arg657_Glu659del inframe 0.00001151●●●●●●
746. 5410982 c.3243G>T p.R1081S missense 0.00001149●●●●●●
747. 5396837 c.4904C>G p.S1635C missense 0.00001146●●●●●●
748. 5396896 c.4845G>C p.K1615N missense 0.00001143●●●●●●
749. 5353307 c.7215C>G p.S2405R missense 0.00001134●●●●●●
750. 5353309 c.7213A>G p.S2405G missense 0.00001128●●●●●●
751. 5363871 c.6416G>C p.G2139A missense 0.00001118●●●●●●
752. 5416487 c.2599C>T p.P867S missense 0.00001113●●●●●●
753. 5416487 c.2599C>G p.P867A missense 0.00001113●●●●●●
754. 5430232 c.371A>T p.Y124F missense 0.00001112●●●●●●
755. 5410351 c.3874G>C p.E1292Q missense 0.00001111●●●●●●
756. 5348785 c.8603G>A p.G2868D missense 0.00001110●●●●●●
757. 5427921 c.1534C>T p.P512S missense 0.00001107●●●●●●
758. 5427901 c.1554C>G p.F518L missense 0.00001105●●●●●●
759. 5410963 c.3262C>T p.P1088S missense 0.00001103●●●●●●
760. 5353327 c.7195G>A p.A2399T missense 0.00001100●●●●●●
761. 5413758 c.3157G>A p.E1053K missense 0.00001099●●●●●●
762. 5427915 c.1540G>C p.E514Q missense 0.00001096●●●●●●
763. 5427468 c.1987G>C p.A663P missense 0.00001091●●●●●●
764. 5410955 c.3270C>G p.H1090Q missense 0.00001090●●●●●●
765. 5353341 c.7181C>T p.P2394L missense 0.00001081●●●●●●
766. 5353183 c.7339G>A p.G2447S missense 0.00001081●●●●●●
767. 5413681 c.3229+5G>A splice site 0.00001080●●●●●●
768. 5410934 c.3291C>G p.F1097L missense 0.00001075●●●●●●
769. 5410339 c.3886T>G p.C1296G missense 0.00001074●●●●●●
770. 5396855 c.4886A>G p.K1629R missense 0.00001070●●●●●●
771. 5354689 c.6953G>T p.G2318V missense 0.00001066●●●●●●
772. 5410920 c.3305C>T p.T1102M missense 0.00001065●●●●●●
773. 5396857 c.4884C>G p.S1628R missense 0.00001064●●●●●●
774. 5410921 c.3304A>C p.T1102P missense 0.00001062●●●●●●
775. 5410333 c.3892G>A p.V1298M missense 0.00001060●●●●●●
776. 5396867 c.4874A>G p.Q1625R missense 0.00001058●●●●●●
777. 5348789 c.8599C>A p.P2867T missense 0.00001048●●●●●●
778. 5347850 c.8794A>C p.M2932L missense 0.00001048●●●●●●
779. 5410329 c.3896C>A p.P1299H missense 0.00001046●●●●●●
780. 5410909 c.3316G>A p.D1106N missense 0.00001046●●●●●●
781. 5410206 c.4019C>G p.A1340G missense 0.00001045●●●●●●
782. 5391730 c.5195-5T>C splice site 0.00001044●●●●●●
783. 5353351 c.7171C>T p.P2391S missense 0.00001040●●●●●●
784. 5413689 c.3226T>C p.S1076P missense 0.00001039●●●●●●
785. 5410207 c.4018G>A p.A1340T missense 0.00001038●●●●●●
786. 5410324 c.3901G>A p.G1301R missense 0.00001036●●●●●●
787. 5363877 c.6410G>A p.R2137H missense 0.00001035●●●●●●
788. 5353357 c.7165G>A p.A2389T missense 0.00001034●●●●●●
789. 5354695 c.6947A>G p.D2316G missense 0.00001033●●●●●●
790. 5410905 c.3320C>T p.A1107V missense 0.00001029●●●●●●
791. 5413695 c.3220C>G p.L1074V missense 0.00001024●●●●●●
792. 5391474 c.5446T>C p.S1816P missense 0.00001013●●●●●●
793. 5391474 c.5446T>A p.S1816T missense 0.00001013●●●●●●
794. 5410901 c.3324C>G p.D1108E missense 0.00001012●●●●●●
795. 5410900 c.3325G>C p.G1109R missense 0.00001012●●●●●●
796. 5353386 c.7136C>T p.P2379L missense 0.00001011●●●●●●
797. 5347860 c.8784G>C p.Q2928H missense 0.00001010●●●●●●
798. 5353167 c.7355G>A p.R2452Q missense 0.00001009●●●●●●
799. 5410318 c.3907G>C p.G1303R missense 0.00001008●●●●●●
800. 5391722 c.5198C>A p.T1733K missense 0.00001001●●●●●●
801. 5391722 c.5198C>T p.T1733M missense 0.00001001●●●●●●
802. 5391723 c.5197A>G p.T1733A missense 0.00000999●●●●●●
803. 5391479 c.5441G>T p.S1814I missense 0.00000999●●●●●●
804. 5410444 c.3781C>G p.P1261A missense 0.00000998●●●●●●
805. 5391481 c.5439C>G p.F1813L missense 0.00000994●●●●●●
806. 5353404 c.7118A>G p.K2373R missense 0.00000993●●●●●●
807. 5410313 c.3912G>T p.Q1304H missense 0.00000989●●●●●●
808. 5353410 c.7112G>C p.G2371A missense 0.00000989●●●●●●
809. 5353411 c.7111G>C p.G2371R missense 0.00000988●●●●●●
810. 5410891 c.3334C>T p.P1112S missense 0.00000986●●●●●●
811. 5413716 c.3199G>A p.A1067T missense 0.00000985●●●●●●
812. 5410450 c.3775G>A p.E1259K missense 0.00000981●●●●●●
813. 5353428 c.7094A>G p.E2365G missense 0.00000978●●●●●●
814. 5391491 c.5429G>A p.R1810H missense 0.00000978●●●●●●
815. 5353486 c.7036G>A p.A2346T missense 0.00000978●●●●●●
816. 5347907 c.8737G>C p.D2913H missense 0.00000977●●●●●●
817. 5353482 c.7040C>A p.T2347N missense 0.00000977●●●●●●
818. 5353434 c.7088C>T p.A2363V missense 0.00000976●●●●●●
819. 5353479 c.7043T>C p.L2348P missense 0.00000976●●●●●●
820. 5353156 c.7366G>T p.E2456X nonsense 0.00000976●●●●●●
821. 5410308 c.3917C>T p.P1306L missense 0.00000975●●●●●●
822. 5353471 c.7051G>A p.G2351R missense 0.00000974●●●●●●
823. 5354714 c.6928G>C p.D2310H missense 0.00000973●●●●●●
824. 5353457 c.7065C>G p.D2355E missense 0.00000973●●●●●●
825. 5410881 c.3344C>T p.P1115L missense 0.00000972●●●●●●
826. 5430211 c.392A>G p.N131S missense 0.00000970●●●●●●
827. 5354716 c.6926A>G p.K2309R missense 0.00000969●●●●●●
828. 5410873 c.3352G>A p.A1118T missense 0.00000965●●●●●●
829. 5363885 c.6402C>G p.H2134Q missense 0.00000957●●●●●●
830. 5353090 c.7432A>G p.K2478E missense 0.00000957●●●●●●
831. 5401603 c.4457G>A p.R1486Q missense 0.00000957●●●●●●
832. 5353152 c.7370A>G p.E2457G missense 0.00000951●●●●●●
833. 5410228 c.3997C>T p.P1333S missense 0.00000947●●●●●●
834. 5354782 c.6863-3C>T splice site 0.00000943●●●●●●
835. 5353147 c.7375G>A p.E2459K missense 0.00000936●●●●●●
836. 5430200 c.403C>T p.P135S missense 0.00000933●●●●●●
837. 5410285 c.3940G>T p.V1314L missense 0.00000933●●●●●●
838. 5410285 c.3940G>A p.V1314M missense 0.00000933●●●●●●
839. 5391506 c.5414G>A p.R1805Q missense 0.00000933●●●●●●
840. 5353095 c.7427A>G p.K2476R missense 0.00000929●●●●●●
841. 5410239 c.3986A>C p.D1329A missense 0.00000928●●●●●●
842. 5410474 c.3751C>G p.P1251A missense 0.00000928●●●●●●
843. 5410474 c.3751C>T p.P1251S missense 0.00000928●●●●●●
844. 5410273 c.3952G>A p.G1318S missense 0.00000924●●●●●●
845. 5410275 c.3950T>C p.L1317P missense 0.00000923●●●●●●
846. 5410840 c.3385G>A p.E1129K missense 0.00000922●●●●●●
847. 5401609 c.4451G>A p.R1484Q missense 0.00000922●●●●●●
848. 5391707 c.5213A>G p.D1738G missense 0.00000921●●●●●●
849. 5410266 c.3959C>A p.T1320N missense 0.00000920●●●●●●
850. 5410833 c.3392A>G p.K1131R missense 0.00000916●●●●●●
851. 5410831 c.3394C>T p.P1132S missense 0.00000916●●●●●●
852. 5355707 c.6746-4A>T splice site 0.00000914●●●●●●
853. 5391524 c.5396C>T p.P1799L missense 0.00000906●●●●●●
854. 5410489 c.3736G>A p.G1246R missense 0.00000903●●●●●●
855. 5410810 c.3415A>C p.K1139Q missense 0.00000902●●●●●●
856. 5427431 c.2024C>T p.A675V missense 0.00000901●●●●●●
857. 5410805 c.3420C>G p.I1140M missense 0.00000901●●●●●●
858. 5430191 c.412A>C p.S138R missense 0.00000899●●●●●●
859. 5410797 c.3428C>T p.P1143L missense 0.00000899●●●●●●
860. 5410794 c.3431T>G p.L1144R missense 0.00000897●●●●●●
861. 5355583 c.6862+4A>C splice site 0.00000897●●●●●●
862. 5410786 c.3439G>A p.G1147S missense 0.00000895●●●●●●
863. 5401620 c.4440G>C p.E1480D missense 0.00000895●●●●●●
864. 5410785 c.3440G>A p.G1147D missense 0.00000895●●●●●●
865. 5410785 c.3440G>C p.G1147A missense 0.00000895●●●●●●
866. 5427426 c.2029G>A p.V677M missense 0.00000894●●●●●●
867. 5391543 c.5377G>A p.A1793T missense 0.00000894●●●●●●
868. 5410762 c.3463G>C p.E1155Q missense 0.00000884●●●●●●
869. 5410764 c.3461C>G p.A1154G missense 0.00000884●●●●●●
870. 5391557 c.5363T>A p.L1788Q missense 0.00000883●●●●●●
871. 5410761 c.3464A>T p.E1155V missense 0.00000883●●●●●●
872. 5430182 c.421C>T p.P141S missense 0.00000883●●●●●●
873. 5410509 c.3716G>T p.C1239F missense 0.00000882●●●●●●
874. 5391564 c.5356C>G p.R1786G missense 0.00000882●●●●●●
875. 5410511 c.3714delC p.Cys1239AlafsTer11 frameshift 0.00000881●●●●●●
876. 5410701 c.3524T>G p.L1175R missense 0.00000879●●●●●●
877. 5410716 c.3509C>T p.T1170I missense 0.00000879●●●●●●
878. 5410741 c.3484G>T p.V1162L missense 0.00000878●●●●●●
879. 5391566 c.5354C>A p.P1785H missense 0.00000878●●●●●●
880. 5410723 c.3502G>C p.G1168R missense 0.00000878●●●●●●
881. 5391567 c.5353C>G p.P1785A missense 0.00000877●●●●●●
882. 5363907 c.6380C>G p.S2127W missense 0.00000877●●●●●●
883. 5430112 c.487+4A>G splice site 0.00000876●●●●●●
884. 5401633 c.4427T>G p.M1476R missense 0.00000875●●●●●●
885. 5427297 c.2152+6_2152+11delTCCTGG splice site 0.00000875●●●●●●
886. 5410684 c.3541C>G p.L1181V missense 0.00000875●●●●●●
887. 5401633 c.4427T>C p.M1476T missense 0.00000875●●●●●●
888. 5401634 c.4426A>T p.M1476L missense 0.00000874●●●●●●
889. 5427393 c.2062G>T p.V688L missense 0.00000874●●●●●●
890. 5427295 c.2152+8C>T splice site 0.00000874●●●●●●
891. 5427314 c.2141G>A p.S714N missense 0.00000873●●●●●●
892. 5427320 c.2135C>T p.S712L missense 0.00000873●●●●●●
893. 5427303 c.2152G>A p.G718R missense 0.00000873●●●●●●
894. 5427330 c.2125C>T p.R709C missense 0.00000872●●●●●●
895. 5427323 c.2132T>G p.L711R missense 0.00000872●●●●●●
896. 5410677 c.3548C>T p.A1183V missense 0.00000872●●●●●●
897. 5430121 c.482G>A p.G161E missense 0.00000871●●●●●●
898. 5417661 c.2153-6C>T splice site 0.00000871●●●●●●
899. 5391691 c.5229G>C p.K1743N missense 0.00000870●●●●●●
900. 5401640 c.4420G>C p.E1474Q missense 0.00000869●●●●●●
901. 5410527 c.3698C>A p.P1233Q missense 0.00000869●●●●●●
902. 5410666 c.3559A>G p.M1187V missense 0.00000868●●●●●●
903. 5430163 c.440G>T p.G147V missense 0.00000868●●●●●●
904. 5430158 c.445C>T p.P149S missense 0.00000868●●●●●●
905. 5430159 c.444G>C p.Q148H missense 0.00000868●●●●●●
906. 5410530 c.3695C>T p.S1232F missense 0.00000867●●●●●●
907. 5401667 c.4396-3dupC splice site 0.00000866●●●●●●
908. 5410657 c.3568C>T p.P1190S missense 0.00000866●●●●●●
909. 5430128 c.475G>T p.G159W missense 0.00000866●●●●●●
910. 5410650 c.3575C>T p.P1192L missense 0.00000866●●●●●●
911. 5401664 c.4396A>T p.M1466L missense 0.00000865●●●●●●
912. 5410660 c.3565A>G p.T1189A missense 0.00000865●●●●●●
913. 5410644 c.3581G>C p.G1194A missense 0.00000865●●●●●●
914. 5355685 c.6764A>G p.D2255G missense 0.00000864●●●●●●
915. 5391581 c.5339G>C p.R1780T missense 0.00000864●●●●●●
916. 5430152 c.451A>G p.I151V missense 0.00000864●●●●●●
917. 5401655 c.4405A>G p.M1469V missense 0.00000864●●●●●●
918. 5430145 c.458A>G p.D153G missense 0.00000863●●●●●●
919. 5410633 c.3592G>A p.G1198S missense 0.00000862●●●●●●
920. 5410543 c.3682C>T p.P1228S missense 0.00000860●●●●●●
921. 5410618 c.3607G>A p.A1203T missense 0.00000859●●●●●●
922. 5363920 c.6367C>G p.P2123A missense 0.00000859●●●●●●
923. 5391591 c.5329C>G p.L1777V missense 0.00000858●●●●●●
924. 5355681 c.6768T>A p.D2256E missense 0.00000858●●●●●●
925. 5410606 c.3619A>C p.S1207R missense 0.00000857●●●●●●
926. 5410562 c.3663C>G p.D1221E missense 0.00000855●●●●●●
927. 5410584 c.3641C>T p.A1214V missense 0.00000855●●●●●●
928. 5410563 c.3662A>G p.D1221G missense 0.00000855●●●●●●
929. 5417646 c.2162G>A p.R721Q missense 0.00000855●●●●●●
930. 5410573 c.3652G>C p.E1218Q missense 0.00000854●●●●●●
931. 5410575 c.3650C>G p.S1217C missense 0.00000854●●●●●●
932. 5391597 c.5323C>T p.P1775S missense 0.00000854●●●●●●
933. 5391605 c.5315C>T p.A1772V missense 0.00000851●●●●●●
934. 5391662 c.5258G>C p.S1753T missense 0.00000851●●●●●●
935. 5391656 c.5264A>G p.K1755R missense 0.00000849●●●●●●
936. 5391647 c.5273C>T p.P1758L missense 0.00000847●●●●●●
937. 5391614 c.5306G>T p.S1769I missense 0.00000847●●●●●●
938. 5391642 c.5278C>T p.L1760F missense 0.00000846●●●●●●
939. 5355670 c.6779T>C p.I2260T missense 0.00000846●●●●●●
940. 5348864 c.8524C>G p.Q2842E missense 0.00000846●●●●●●
941. 5348914 c.8474C>T p.A2825V missense 0.00000844●●●●●●
942. 5417632 c.2176T>C p.C726R missense 0.00000844●●●●●●
943. 5348927 c.8461A>G p.I2821V missense 0.00000844●●●●●●
944. 5355665 c.6784G>A p.V2262M missense 0.00000843●●●●●●
945. 5355665 c.6784G>T p.V2262L missense 0.00000843●●●●●●
946. 5417623 c.2185G>A p.D729N missense 0.00000842●●●●●●
947. 5363946 c.6341G>T p.S2114I missense 0.00000842●●●●●●
948. 5363949 c.6338A>C p.E2113A missense 0.00000842●●●●●●
949. 5355620 c.6829A>G p.I2277V missense 0.00000841●●●●●●
950. 5417620 c.2188C>T p.R730W missense 0.00000841●●●●●●
951. 5417574 c.2234G>A p.R745Q missense 0.00000840●●●●●●
952. 5417589 c.2219G>A p.G740E missense 0.00000840●●●●●●
953. 5417589 c.2219G>C p.G740A missense 0.00000840●●●●●●
954. 5417562 c.2246A>G p.K749R missense 0.00000840●●●●●●
955. 5417599 c.2209C>T p.R737W missense 0.00000839●●●●●●
956. 5417583 c.2225G>A p.R742Q missense 0.00000839●●●●●●
957. 5417607 c.2201G>A p.R734Q missense 0.00000839●●●●●●
958. 5417598 c.2210G>A p.R737Q missense 0.00000839●●●●●●
959. 5417608 c.2200C>T p.R734W missense 0.00000839●●●●●●
960. 5355632 c.6817C>T p.P2273S missense 0.00000839●●●●●●
961. 5417592 c.2216T>A p.L739H missense 0.00000839●●●●●●
962. 5355632 c.6817C>A p.P2273T missense 0.00000839●●●●●●
963. 5363994 c.6301-8G>A splice site 0.00000838●●●●●●
964. 5363986 c.6301A>G p.N2101D missense 0.00000837●●●●●●
965. 5399167 c.4695T>G p.D1565E missense 0.00000828●●●●●●
966. 5399191 c.4671C>G p.S1557R missense 0.00000828●●●●●●
967. 5399136 c.4726C>A p.H1576N missense 0.00000828●●●●●●
968. 5399090 c.4772A>G p.K1591R missense 0.00000828●●●●●●
969. 5399071 c.4791G>C p.Q1597H missense 0.00000828●●●●●●
970. 5399153 c.4709C>T p.A1570V missense 0.00000828●●●●●●
971. 5399133 c.4729A>G p.K1577E missense 0.00000828●●●●●●
972. 5399103 c.4759A>G p.I1587V missense 0.00000828●●●●●●
973. 5399081 c.4781G>A p.G1594E missense 0.00000828●●●●●●
974. 5399172 c.4690G>A p.D1564N missense 0.00000828●●●●●●
975. 5399208 c.4662-8C>T splice site 0.00000828●●●●●●
976. 5399159 c.4703T>C p.L1568P missense 0.00000828●●●●●●
977. 5399064 c.4798G>C p.D1600H missense 0.00000828●●●●●●
978. 5399140 c.4722G>C p.K1574N missense 0.00000828●●●●●●
979. 5399106 c.4756C>G p.L1586V missense 0.00000828●●●●●●
980. 5399177 c.4685C>T p.T1562I missense 0.00000828●●●●●●
981. 5399161 c.4701G>C p.E1567D missense 0.00000828●●●●●●
982. 5399116 c.4746A>T p.E1582D missense 0.00000828●●●●●●
983. 5399071 c.4791G>T p.Q1597H missense 0.00000828●●●●●●
984. 5399145 c.4717A>G p.R1573G missense 0.00000828●●●●●●
985. 5399108 c.4754C>T p.A1585V missense 0.00000828●●●●●●
986. 5399051 c.4811C>G p.A1604G missense 0.00000828●●●●●●
987. 5399172 c.4690G>C p.D1564H missense 0.00000828●●●●●●

* 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.