PLEC variants in ExAC

PLEC gene summary
PLEC variants in

The table below lists the PLEC 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. 145004546 c.2538+6C>T splice site 0.74105551●●●●●●
2. 144997927 c.6251C>T p.A2084V missense 0.46514867●●●●●●
3. 145001031 c.4046A>G p.H1349R missense 0.41276773●●●●●●
4. 144996029 c.8041T>C p.S2681P missense 0.40851022●●●●●●
5. 145000056 c.4126-4A>G splice site 0.39122953●●●●●●
6. 145007187 c.1592C>T p.A531V missense 0.36686723●●●●●●
7. 145001588 c.3827G>A p.R1276Q missense 0.34894882●●●●●●
8. 144995494 c.8576G>A p.R2859H missense 0.34437081●●●●●●
9. 145001509 c.3838-6A>G splice site 0.34372150●●●●●●
10. 144997783 c.6395C>T p.A2132V missense 0.07614409●●●●●●
11. 144994888 c.9182C>T p.A3061V missense 0.05684994●●●●●●
12. 145009356 c.799+10C>T splice site 0.04969367●●●●●●
13. 145001512 c.3838-9A>G splice site 0.04207451●●●●●●
14. 144995939 c.8131C>T p.R2711W missense 0.02412303●●●●●●
15. 144995169 c.8901C>G p.D2967E missense 0.02350195●●●●●●
16. 144994916 c.9154G>A p.V3052I missense 0.02236216●●●●●●
17. 144990784 c.13286C>T p.T4429M missense 0.01524592●●●●●●
18. 145006992 c.1787G>A p.R596Q missense 0.01498038●●●●●●
19. 145004237 c.2694-7C>A splice site 0.01450791●●●●●●
20. 144998620 c.5558G>A p.R1853Q missense 0.01437926●●●●●●
21. 145004376 c.2629G>A p.A877T missense 0.01383996●●●●●●
22. 145006096 c.2259+9C>G splice site 0.01201528●●●●●●
23. 145009036 c.968G>A p.R323Q missense 0.01174532●●●●●●
24. 144993931 c.10139G>C p.G3380A missense 0.01130692●●●●●●
25. 144992390 c.11680G>C p.D3894H missense 0.01077503●●●●●●
26. 144998621 c.5557C>T p.R1853W missense 0.00978632●●●●●●
27. 144995500 c.8570A>G p.Y2857C missense 0.00954453●●●●●●
28. 144992269 c.11801C>T p.T3934M missense 0.00926021●●●●●●
29. 144993943 c.10127C>T p.T3376M missense 0.00681406●●●●●●
30. 145004714 c.2386-10delT splice site 0.00652174●●●●●●
31. 144995977 c.8093G>A p.R2698Q missense 0.00599060●●●●●●
32. 144994028 c.10042G>A p.G3348R missense 0.00576678●●●●●●
33. 144999499 c.4679G>A p.R1560Q missense 0.00551832●●●●●●
34. 144994064 c.10006C>T p.R3336C missense 0.00516623●●●●●●
35. 144999731 c.4447G>A p.V1483M missense 0.00478958●●●●●●
36. 145001652 c.3763C>T p.R1255W missense 0.00475849●●●●●●
37. 144998444 c.5734G>A p.A1912T missense 0.00436526●●●●●●
38. 144999935 c.4243C>T p.R1415W missense 0.00363435●●●●●●
39. 144997786 c.6392C>T p.A2131V missense 0.00312800●●●●●●
40. 144991205 c.12865G>A p.V4289I missense 0.00307470●●●●●●
41. 144999446 c.4732C>T p.R1578C missense 0.00304669●●●●●●
42. 144996830 c.7348G>A p.A2450T missense 0.00300402●●●●●●
43. 145006793 c.1896+10G>A splice site 0.00291980●●●●●●
44. 145001221 c.3950A>G p.K1317R missense 0.00271904●●●●●●
45. 144998038 c.6140A>C p.E2047A missense 0.00271341●●●●●●
46. 144995559 c.8511C>G p.I2837M missense 0.00233370●●●●●●
47. 145012414 c.256-6C>T splice site 0.00232839●●●●●●
48. 144998626 c.5552C>T p.A1851V missense 0.00219150●●●●●●
49. 145000021 c.4157G>A p.R1386H missense 0.00211912●●●●●●
50. 144999874 c.4304C>T p.A1435V missense 0.00211454●●●●●●
51. 144999541 c.4637C>T p.S1546L missense 0.00174397●●●●●●
52. 144998654 c.5524C>T p.R1842W missense 0.00167446●●●●●●
53. 144992378 c.11692G>A p.G3898S missense 0.00160245●●●●●●
54. 144995480 c.8590G>A p.E2864K missense 0.00155349●●●●●●
55. 145003340 c.3272G>A p.R1091H missense 0.00153409●●●●●●
56. 145004474 c.2539-8C>T splice site 0.00151173●●●●●●
57. 144995938 c.8132G>A p.R2711Q missense 0.00148866●●●●●●
58. 145049512 c.26G>A p.R9Q missense 0.00147974●●●●●●
59. 145005769 c.2318G>A p.R773H missense 0.00142893●●●●●●
60. 144995788 c.8282C>T p.A2761V missense 0.00135793●●●●●●
61. 145007069 c.1710G>T p.E570D missense 0.00133579●●●●●●
62. 144995483 c.8587G>A p.D2863N missense 0.00131345●●●●●●
63. 144996038 c.8032C>T p.R2678W missense 0.00126331●●●●●●
64. 144998175 c.6003G>C p.Q2001H missense 0.00125051●●●●●●
65. 145012801 c.253A>G p.K85E missense 0.00124275●●●●●●
66. 145009069 c.935G>A p.R312Q missense 0.00120882●●●●●●
67. 144996236 c.7834G>C p.E2612Q missense 0.00119603●●●●●●
68. 144997340 c.6838G>A p.A2280T missense 0.00115957●●●●●●
69. 145008497 c.1239C>G p.S413R missense 0.00115009●●●●●●
70. 144990587 c.13483G>A p.A4495T missense 0.00111019●●●●●●
71. 145012789 c.255+10delG splice site 0.00109378●●●●●●
72. 144999224 c.4954G>A p.E1652K missense 0.00106098●●●●●●
73. 145003685 c.3059G>A p.R1020Q missense 0.00105625●●●●●●
74. 144994955 c.9115G>A p.E3039K missense 0.00102257●●●●●●
75. 145006143 c.2221A>G p.I741V missense 0.00101672●●●●●●
76. 144994094 c.9976C>T p.R3326W missense 0.00098023●●●●●●
77. 144995807 c.8263A>G p.I2755V missense 0.00093823●●●●●●
78. 145004388 c.2617G>A p.G873S missense 0.00092064●●●●●●
79. 144991799 c.12271G>A p.E4091K missense 0.00089846●●●●●●
80. 144996976 c.7202G>A p.R2401Q missense 0.00089204●●●●●●
81. 145003304 c.3308A>G p.Q1103R missense 0.00085549●●●●●●
82. 145004373 c.2632G>A p.V878M missense 0.00085233●●●●●●
83. 144998870 c.5308G>A p.A1770T missense 0.00083302●●●●●●
84. 144998932 c.5246C>T p.T1749M missense 0.00082690●●●●●●
85. 144999746 c.4432G>A p.E1478K missense 0.00082503●●●●●●
86. 145001603 c.3812T>G p.V1271G missense 0.00080239●●●●●●
87. 144999073 c.5105G>A p.R1702Q missense 0.00079988●●●●●●
88. 144996109 c.7961C>G p.P2654R missense 0.00078691●●●●●●
89. 144997835 c.6343C>T p.R2115W missense 0.00078459●●●●●●
90. 145004473 c.2539-7G>A splice site 0.00077610●●●●●●
91. 144998515 c.5663C>T p.A1888V missense 0.00076713●●●●●●
92. 144998495 c.5683C>T p.R1895W missense 0.00075606●●●●●●
93. 144998052 c.6126A>T p.K2042N missense 0.00075347●●●●●●
94. 144993491 c.10579C>T p.R3527C missense 0.00071376●●●●●●
95. 144991925 c.12145C>T p.L4049F missense 0.00070603●●●●●●
96. 144992660 c.11410G>A p.E3804K missense 0.00068369●●●●●●
97. 144994271 c.9799G>A p.E3267K missense 0.00067197●●●●●●
98. 144997856 c.6322G>A p.G2108S missense 0.00065975●●●●●●
99. 144997831 c.6347C>T p.A2116V missense 0.00063489●●●●●●
100. 144992546 c.11524G>C p.G3842R missense 0.00063385●●●●●●
101. 145003389 c.3223G>A p.E1075K missense 0.00062480●●●●●●
102. 144998059 c.6119G>A p.R2040Q missense 0.00060875●●●●●●
103. 144997673 c.6505G>A p.A2169T missense 0.00059024●●●●●●
104. 145001473 c.3868G>A p.E1290K missense 0.00057303●●●●●●
105. 144998325 c.5853G>C p.E1951D missense 0.00054883●●●●●●
106. 144998599 c.5579G>A p.R1860Q missense 0.00053856●●●●●●
107. 144997784 c.6394G>A p.A2132T missense 0.00053511●●●●●●
108. 144996868 c.7310C>T p.A2437V missense 0.00053308●●●●●●
109. 144999071 c.5107C>T p.R1703C missense 0.00052528●●●●●●
110. 145001482 c.3859C>G p.R1287G missense 0.00052274●●●●●●
111. 144997928 c.6250G>A p.A2084T missense 0.00051823●●●●●●
112. 145008167 c.1343C>T p.S448L missense 0.00051482●●●●●●
113. 144996166 c.7904C>T p.A2635V missense 0.00049930●●●●●●
114. 145004599 c.2491C>T p.R831W missense 0.00049649●●●●●●
115. 144992782 c.11288C>T p.P3763L missense 0.00048803●●●●●●
116. 144998750 c.5428G>A p.E1810K missense 0.00048508●●●●●●
117. 144999142 c.5036C>T p.A1679V missense 0.00047617●●●●●●
118. 144991514 c.12556C>T p.R4186C missense 0.00047432●●●●●●
119. 144992953 c.11117C>T p.A3706V missense 0.00047121●●●●●●
120. 144995477 c.8593G>A p.E2865K missense 0.00046507●●●●●●
121. 144998576 c.5602G>A p.A1868T missense 0.00046502●●●●●●
122. 144998149 c.6029G>A p.R2010H missense 0.00046076●●●●●●
123. 145001038 c.4039C>T p.R1347C missense 0.00045888●●●●●●
124. 145001900 c.3515C>T p.T1172M missense 0.00045873●●●●●●
125. 145006590 c.2036C>T p.T679I missense 0.00045761●●●●●●
126. 144997126 c.7052G>A p.R2351Q missense 0.00045406●●●●●●
127. 144998224 c.5954C>T p.T1985M missense 0.00045018●●●●●●
128. 144992465 c.11605G>A p.E3869K missense 0.00044820●●●●●●
129. 144990503 c.13567G>A p.G4523S missense 0.00041686●●●●●●
130. 144991208 c.12862G>A p.A4288T missense 0.00041672●●●●●●
131. 144992395 c.11675G>A p.R3892H missense 0.00041218●●●●●●
132. 144992486 c.11584G>A p.D3862N missense 0.00040620●●●●●●
133. 144995329 c.8741A>G p.K2914R missense 0.00040603●●●●●●
134. 145008617 c.1123-4A>G splice site 0.00040204●●●●●●
135. 144991361 c.12709G>A p.A4237T missense 0.00040058●●●●●●
136. 145001714 c.3701G>T p.R1234L missense 0.00039854●●●●●●
137. 144998060 c.6118C>T p.R2040W missense 0.00039264●●●●●●
138. 144992552 c.11518C>T p.R3840C missense 0.00038971●●●●●●
139. 144994060 c.10010C>T p.A3337V missense 0.00038954●●●●●●
140. 144998035 c.6143C>T p.A2048V missense 0.00038935●●●●●●
141. 145003836 c.2982G>T p.Q994H missense 0.00038885●●●●●●
142. 144991172 c.12898C>T p.P4300S missense 0.00038397●●●●●●
143. 144999751 c.4427G>A p.R1476H missense 0.00038330●●●●●●
144. 144992416 c.11654C>T p.T3885M missense 0.00037902●●●●●●
145. 145005743 c.2344G>A p.A782T missense 0.00037797●●●●●●
146. 145010011 c.683+5A>G splice site 0.00037561●●●●●●
147. 144996355 c.7715G>A p.R2572Q missense 0.00037214●●●●●●
148. 144998948 c.5230C>T p.R1744W missense 0.00036443●●●●●●
149. 144992513 c.11557C>T p.R3853C missense 0.00036342●●●●●●
150. 144996382 c.7688G>A p.R2563Q missense 0.00036090●●●●●●
151. 144997561 c.6617G>A p.R2206Q missense 0.00035982●●●●●●
152. 145004701 c.2389G>A p.E797K missense 0.00035762●●●●●●
153. 144996376 c.7694A>G p.Q2565R missense 0.00035562●●●●●●
154. 145007500 c.1364C>T p.A455V missense 0.00035180●●●●●●
155. 144994189 c.9881G>A p.R3294Q missense 0.00035148●●●●●●
156. 145002171 c.3342-11T>C splice site 0.00034990●●●●●●
157. 144998336 c.5842C>T p.R1948W missense 0.00034980●●●●●●
158. 144992161 c.11909C>A p.T3970N missense 0.00034775●●●●●●
159. 144999571 c.4607G>A p.R1536H missense 0.00034502●●●●●●
160. 144994201 c.9869C>T p.T3290I missense 0.00034317●●●●●●
161. 145012789 c.255+10G>A splice site 0.00034050●●●●●●
162. 144996758 c.7420C>T p.R2474C missense 0.00033895●●●●●●
163. 145002135 c.3367C>T p.R1123C missense 0.00033865●●●●●●
164. 144994514 c.9556G>A p.A3186T missense 0.00033593●●●●●●
165. 145006736 c.1897-7C>G splice site 0.00033330●●●●●●
166. 144996323 c.7747C>T p.R2583W missense 0.00032800●●●●●●
167. 144998683 c.5495G>A p.R1832H missense 0.00032504●●●●●●
168. 144991082 c.12988G>A p.V4330M missense 0.00032380●●●●●●
169. 144990878 c.13192G>A p.A4398T missense 0.00032353●●●●●●
170. 144998464 c.5714G>A p.R1905Q missense 0.00032245●●●●●●
171. 145004104 c.2820G>A p.T940T splice site 0.00032019●●●●●●
172. 144997858 c.6320G>A p.R2107H missense 0.00031896●●●●●●
173. 144998717 c.5461G>A p.G1821S missense 0.00031227●●●●●●
174. 145002053 c.3449C>T p.P1150L missense 0.00031107●●●●●●
175. 145001874 c.3541C>T p.R1181W missense 0.00030753●●●●●●
176. 144994063 c.10007G>A p.R3336H missense 0.00030485●●●●●●
177. 144997633 c.6545C>T p.A2182V missense 0.00030321●●●●●●
178. 144996061 c.8009A>G p.E2670G missense 0.00030122●●●●●●
179. 144993884 c.10186G>T p.V3396L missense 0.00030092●●●●●●
180. 144999068 c.5110G>A p.G1704S missense 0.00030032●●●●●●
181. 144992480 c.11590C>G p.L3864V missense 0.00029902●●●●●●
182. 144991271 c.12799G>A p.A4267T missense 0.00029404●●●●●●
183. 144994093 c.9977G>A p.R3326Q missense 0.00029337●●●●●●
184. 144999724 c.4454G>T p.R1485L missense 0.00029146●●●●●●
185. 144997849 c.6329C>T p.A2110V missense 0.00028446●●●●●●
186. 144994940 c.9130C>T p.R3044W missense 0.00027951●●●●●●
187. 144998941 c.5237G>A p.R1746Q missense 0.00027508●●●●●●
188. 144998966 c.5212G>A p.A1738T missense 0.00026843●●●●●●
189. 145003323 c.3289A>G p.T1097A missense 0.00026655●●●●●●
190. 144996320 c.7750C>T p.R2584W missense 0.00026536●●●●●●
191. 144995878 c.8192A>C p.K2731T missense 0.00026183●●●●●●
192. 145004575 c.2515G>C p.V839L missense 0.00026167●●●●●●
193. 144997256 c.6922G>A p.A2308T missense 0.00026124●●●●●●
194. 144992171 c.11899G>A p.V3967M missense 0.00025743●●●●●●
195. 144999259 c.4919G>A p.R1640Q missense 0.00025727●●●●●●
196. 144993424 c.10646C>T p.T3549M missense 0.00025708●●●●●●
197. 145004201 c.2723C>T p.T908M missense 0.00025651●●●●●●
198. 145006858 c.1841G>A p.R614Q missense 0.00025644●●●●●●
199. 144997067 c.7111C>T p.R2371W missense 0.00025598●●●●●●
200. 144996727 c.7451G>C p.R2484P missense 0.00025328●●●●●●
201. 144992491 c.11579C>T p.T3860M missense 0.00025162●●●●●●
202. 145001808 c.3607C>T p.R1203C missense 0.00025131●●●●●●
203. 144999689 c.4489G>A p.G1497R missense 0.00024943●●●●●●
204. 144995458 c.8612C>T p.A2871V missense 0.00024902●●●●●●
205. 145002134 c.3368G>A p.R1123H missense 0.00024648●●●●●●
206. 144999070 c.5108G>A p.R1703H missense 0.00024519●●●●●●
207. 145049405 c.133G>A p.G45S missense 0.00024482●●●●●●
208. 144997754 c.6424G>A p.E2142K missense 0.00024354●●●●●●
209. 144992852 c.11218G>A p.G3740R missense 0.00024342●●●●●●
210. 145003653 c.3091G>A p.V1031M missense 0.00024302●●●●●●
211. 144992392 c.11678G>A p.R3893H missense 0.00024227●●●●●●
212. 145006118 c.2246C>T p.A749V missense 0.00024129●●●●●●
213. 145003593 c.3151G>A p.A1051T missense 0.00023943●●●●●●
214. 144993781 c.10289G>A p.R3430Q missense 0.00023596●●●●●●
215. 144999277 c.4901G>A p.R1634Q missense 0.00023362●●●●●●
216. 144990461 c.13609G>A p.G4537S missense 0.00023122●●●●●●
217. 144990742 c.13328C>T p.T4443M missense 0.00022786●●●●●●
218. 145004447 c.2558A>G p.D853G missense 0.00022595●●●●●●
219. 144993811 c.10259C>T p.A3420V missense 0.00022256●●●●●●
220. 144998167 c.6011C>T p.A2004V missense 0.00022045●●●●●●
221. 145006576 c.2050A>T p.S684C missense 0.00022038●●●●●●
222. 144993782 c.10288C>T p.R3430W missense 0.00021726●●●●●●
223. 144997319 c.6859G>A p.D2287N missense 0.00021717●●●●●●
224. 144998557 c.5621G>A p.R1874Q missense 0.00021687●●●●●●
225. 144993517 c.10553G>A p.R3518H missense 0.00021604●●●●●●
226. 145001600 c.3815G>A p.R1272Q missense 0.00021365●●●●●●
227. 144997604 c.6574G>A p.A2192T missense 0.00021242●●●●●●
228. 145006561 c.2058+7G>A splice site 0.00021210●●●●●●
229. 144993155 c.10915C>T p.R3639W missense 0.00020999●●●●●●
230. 145003590 c.3154G>A p.E1052K missense 0.00020938●●●●●●
231. 144993398 c.10672G>A p.V3558M missense 0.00020756●●●●●●
232. 145004462 c.2543C>T p.T848I missense 0.00020689●●●●●●
233. 144992912 c.11158G>A p.A3720T missense 0.00020644●●●●●●
234. 144999232 c.4946G>A p.R1649Q missense 0.00020453●●●●●●
235. 144999785 c.4393C>T p.R1465W missense 0.00020432●●●●●●
236. 144993245 c.10825G>A p.G3609S missense 0.00020391●●●●●●
237. 145006993 c.1786C>T p.R596W missense 0.00020316●●●●●●
238. 145004417 c.2588C>T p.P863L missense 0.00020011●●●●●●
239. 144995478 c.8592G>C p.E2864D missense 0.00019932●●●●●●
240. 144993467 c.10603G>A p.D3535N missense 0.00019907●●●●●●
241. 144996905 c.7273C>T p.R2425C missense 0.00019443●●●●●●
242. 144994148 c.9922G>A p.V3308M missense 0.00019214●●●●●●
243. 144994457 c.9613G>A p.A3205T missense 0.00019213●●●●●●
244. 144998707 c.5471G>A p.R1824H missense 0.00019031●●●●●●
245. 144995948 c.8122G>A p.E2708K missense 0.00019004●●●●●●
246. 145006145 c.2219G>C p.C740S missense 0.00018914●●●●●●
247. 144994297 c.9773G>A p.R3258H missense 0.00018903●●●●●●
248. 145007244 c.1535G>T p.R512L missense 0.00018750●●●●●●
249. 144995759 c.8311C>T p.R2771W missense 0.00018569●●●●●●
250. 144991004 c.13066C>T p.R4356C missense 0.00018495●●●●●●
251. 144998936 c.5242G>A p.E1748K missense 0.00018379●●●●●●
252. 144996877 c.7301G>A p.R2434Q missense 0.00018255●●●●●●
253. 144999076 c.5102G>A p.R1701Q missense 0.00018233●●●●●●
254. 144998175 c.6003G>T p.Q2001H missense 0.00018189●●●●●●
255. 144998831 c.5347G>A p.E1783K missense 0.00017947●●●●●●
256. 145007152 c.1627G>A p.E543K missense 0.00017940●●●●●●
257. 144998696 c.5482G>A p.E1828K missense 0.00017934●●●●●●
258. 144998503 c.5675G>A p.R1892H missense 0.00017758●●●●●●
259. 144995008 c.9062G>A p.R3021H missense 0.00017675●●●●●●
260. 144999850 c.4328G>A p.R1443H missense 0.00017646●●●●●●
261. 144990997 c.13073C>T p.P4358L missense 0.00017624●●●●●●
262. 145006317 c.2144C>T p.P715L missense 0.00017387●●●●●●
263. 144999278 c.4900C>T p.R1634W missense 0.00017323●●●●●●
264. 144999119 c.5059G>A p.A1687T missense 0.00017304●●●●●●
265. 144999448 c.4730G>A p.R1577Q missense 0.00017272●●●●●●
266. 144999500 c.4678C>T p.R1560W missense 0.00017251●●●●●●
267. 144999331 c.4847C>T p.T1616M missense 0.00017178●●●●●●
268. 144998032 c.6146G>A p.R2049Q missense 0.00017074●●●●●●
269. 144998983 c.5195C>T p.A1732V missense 0.00016998●●●●●●
270. 144999086 c.5092C>T p.R1698C missense 0.00016949●●●●●●
271. 144995144 c.8926C>T p.R2976W missense 0.00016831●●●●●●
272. 144994412 c.9658G>T p.G3220C missense 0.00016811●●●●●●
273. 145001838 c.3577C>T p.R1193W missense 0.00016795●●●●●●
274. 144990415 c.13655C>T p.S4552L missense 0.00016770●●●●●●
275. 144997000 c.7178G>A p.R2393Q missense 0.00016732●●●●●●
276. 144997899 c.6279G>T p.Q2093H missense 0.00016708●●●●●●
277. 144993374 c.10696C>T p.R3566C missense 0.00016639●●●●●●
278. 144998531 c.5647C>G p.L1883V missense 0.00016598●●●●●●
279. 144990421 c.13649C>A p.S4550Y missense 0.00016518●●●●●●
280. 144996904 c.7274G>A p.R2425H missense 0.00016498●●●●●●
281. 144999536 c.4642G>A p.V1548M missense 0.00016433●●●●●●
282. 144993859 c.10211G>A p.R3404Q missense 0.00016431●●●●●●
283. 145009450 c.715C>T p.R239W missense 0.00016420●●●●●●
284. 145004593 c.2497C>G p.R833G missense 0.00016362●●●●●●
285. 145004708 c.2386-4A>C splice site 0.00016353●●●●●●
286. 144999074 c.5104C>T p.R1702W missense 0.00016342●●●●●●
287. 145003322 c.3290C>T p.T1097M missense 0.00016258●●●●●●
288. 144997492 c.6686A>G p.K2229R missense 0.00015990●●●●●●
289. 144993119 c.10951G>A p.E3651K missense 0.00015960●●●●●●
290. 144999421 c.4757G>A p.R1586Q missense 0.00015912●●●●●●
291. 144991342 c.12728G>A p.R4243H missense 0.00015874●●●●●●
292. 144999382 c.4796G>A p.R1599H missense 0.00015823●●●●●●
293. 145004124 c.2800C>T p.R934C missense 0.00015795●●●●●●
294. 144998782 c.5396C>T p.A1799V missense 0.00015775●●●●●●
295. 144996356 c.7714C>T p.R2572W missense 0.00015765●●●●●●
296. 144998498 c.5680C>T p.R1894W missense 0.00015739●●●●●●
297. 144996167 c.7903G>A p.A2635T missense 0.00015668●●●●●●
298. 144997036 c.7142C>T p.A2381V missense 0.00015660●●●●●●
299. 144990515 c.13555G>A p.G4519S missense 0.00015623●●●●●●
300. 144995956 c.8114C>T p.T2705M missense 0.00015611●●●●●●
301. 144996383 c.7687C>T p.R2563W missense 0.00015489●●●●●●
302. 144998311 c.5867C>T p.A1956V missense 0.00015368●●●●●●
303. 144997740 c.6438G>T p.Q2146H missense 0.00015309●●●●●●
304. 144995658 c.8412C>A p.Y2804X nonsense 0.00015237●●●●●●
305. 144999302 c.4876G>A p.E1626K missense 0.00015145●●●●●●
306. 144990530 c.13540G>A p.A4514T missense 0.00014993●●●●●●
307. 144993530 c.10540G>A p.V3514M missense 0.00014968●●●●●●
308. 145001892 c.3523G>A p.A1175T missense 0.00014956●●●●●●
309. 144994769 c.9301G>A p.A3101T missense 0.00014863●●●●●●
310. 144993940 c.10130T>C p.L3377P missense 0.00014698●●●●●●
311. 144997699 c.6479C>T p.A2160V missense 0.00014685●●●●●●
312. 144990707 c.13363G>A p.V4455M missense 0.00014677●●●●●●
313. 144998218 c.5960G>A p.R1987H missense 0.00014551●●●●●●
314. 144993068 c.11002G>A p.D3668N missense 0.00014305●●●●●●
315. 144992254 c.11816G>A p.R3939Q missense 0.00014294●●●●●●
316. 144999236 c.4942G>A p.E1648K missense 0.00014282●●●●●●
317. 144993154 c.10916G>A p.R3639Q missense 0.00014280●●●●●●
318. 145008904 c.1027-6T>C splice site 0.00014242●●●●●●
319. 145003969 c.2849G>A p.R950H missense 0.00014220●●●●●●
320. 144992551 c.11519G>A p.R3840H missense 0.00014206●●●●●●
321. 144992624 c.11446G>A p.E3816K missense 0.00014202●●●●●●
322. 144992432 c.11638G>A p.E3880K missense 0.00014190●●●●●●
323. 144995012 c.9058G>A p.D3020N missense 0.00014149●●●●●●
324. 144993527 c.10543G>A p.A3515T missense 0.00014133●●●●●●
325. 144990749 c.13321C>T p.R4441C missense 0.00014062●●●●●●
326. 145004668 c.2422C>T p.L808F missense 0.00014057●●●●●●
327. 144999353 c.4825C>T p.R1609C missense 0.00014027●●●●●●
328. 144999392 c.4786A>G p.T1596A missense 0.00014001●●●●●●
329. 144998132 c.6046C>T p.R2016C missense 0.00013944●●●●●●
330. 144995077 c.8993G>A p.R2998Q missense 0.00013907●●●●●●
331. 145002128 c.3374C>T p.T1125M missense 0.00013844●●●●●●
332. 144998129 c.6049G>A p.V2017M missense 0.00013840●●●●●●
333. 145012315 c.345+4C>T splice site 0.00013832●●●●●●
334. 144994537 c.9533G>A p.R3178H missense 0.00013830●●●●●●
335. 144997714 c.6464G>A p.R2155Q missense 0.00013810●●●●●●
336. 144999370 c.4808C>T p.A1603V missense 0.00013769●●●●●●
337. 144992183 c.11887G>A p.A3963T missense 0.00013759●●●●●●
338. 144996316 c.7754G>A p.R2585Q missense 0.00013736●●●●●●
339. 144999170 c.5008C>T p.R1670W missense 0.00013693●●●●●●
340. 144992234 c.11836G>A p.E3946K missense 0.00013660●●●●●●
341. 144997681 c.6497G>A p.R2166H missense 0.00013618●●●●●●
342. 144992450 c.11620G>A p.V3874M missense 0.00013606●●●●●●
343. 144992347 c.11723G>A p.R3908H missense 0.00013589●●●●●●
344. 145003341 c.3271C>T p.R1091C missense 0.00013546●●●●●●
345. 144993053 c.11017C>T p.R3673C missense 0.00013465●●●●●●
346. 145001170 c.4001C>T p.S1334L missense 0.00013420●●●●●●
347. 144996319 c.7751G>A p.R2584Q missense 0.00013417●●●●●●
348. 144999199 c.4979G>A p.R1660H missense 0.00013413●●●●●●
349. 144990983 c.13087G>A p.V4363I missense 0.00013408●●●●●●
350. 145001885 c.3530G>A p.R1177Q missense 0.00013337●●●●●●
351. 145000968 c.4109G>A p.R1370H missense 0.00013318●●●●●●
352. 145007040 c.1739C>T p.A580V missense 0.00013280●●●●●●
353. 144995444 c.8626G>A p.D2876N missense 0.00013270●●●●●●
354. 145001801 c.3614G>A p.R1205Q missense 0.00013167●●●●●●
355. 145004593 c.2497C>T p.R833C missense 0.00013090●●●●●●
356. 145004702 c.2388C>T splice site 0.00013038●●●●●●
357. 144990539 c.13531G>A p.G4511S missense 0.00012953●●●●●●
358. 144997370 c.6808C>A p.L2270I missense 0.00012945●●●●●●
359. 145009449 c.716G>A p.R239Q missense 0.00012908●●●●●●
360. 145009001 c.1003C>T p.P335S missense 0.00012897●●●●●●
361. 144992962 c.11108C>T p.A3703V missense 0.00012824●●●●●●
362. 144992969 c.11101C>T p.R3701C missense 0.00012811●●●●●●
363. 144999077 c.5101C>T p.R1701W missense 0.00012727●●●●●●
364. 144996251 c.7819C>T p.R2607W missense 0.00012658●●●●●●
365. 145008532 c.1204G>A p.V402M missense 0.00012652●●●●●●
366. 145009402 c.763C>T p.R255W missense 0.00012639●●●●●●
367. 144998713 c.5465G>A p.R1822Q missense 0.00012582●●●●●●
368. 144992348 c.11722C>T p.R3908C missense 0.00012573●●●●●●
369. 144998708 c.5470C>T p.R1824C missense 0.00012566●●●●●●
370. 144998653 c.5525G>A p.R1842Q missense 0.00012544●●●●●●
371. 144992774 c.11296G>C p.G3766R missense 0.00012479●●●●●●
372. 145002123 c.3379G>C p.G1127R missense 0.00012447●●●●●●
373. 144995359 c.8711C>T p.T2904M missense 0.00012438●●●●●●
374. 144994909 c.9161C>T p.A3054V missense 0.00012223●●●●●●
375. 144998051 c.6127G>A p.A2043T missense 0.00012204●●●●●●
376. 144992402 c.11668C>T p.R3890W missense 0.00012180●●●●●●
377. 144990635 c.13435C>T p.R4479C missense 0.00012080●●●●●●
378. 144990479 c.13591G>A p.G4531S missense 0.00012031●●●●●●
379. 144999445 c.4733G>A p.R1578H missense 0.00011979●●●●●●
380. 144995924 c.8146C>T p.R2716C missense 0.00011974●●●●●●
381. 144999047 c.5131G>A p.V1711I missense 0.00011916●●●●●●
382. 144994520 c.9550G>T p.A3184S missense 0.00011843●●●●●●
383. 144998605 c.5573C>T p.A1858V missense 0.00011838●●●●●●
384. 145003337 c.3275C>T p.S1092L missense 0.00011826●●●●●●
385. 144996727 c.7451G>A p.R2484H missense 0.00011820●●●●●●
386. 144995674 c.8396G>A p.R2799H missense 0.00011758●●●●●●
387. 144998030 c.6148C>T p.R2050C missense 0.00011727●●●●●●
388. 144991312 c.12758C>T p.T4253M missense 0.00011721●●●●●●
389. 144992767 c.11303G>A p.R3768Q missense 0.00011690●●●●●●
390. 144991781 c.12289G>A p.G4097S missense 0.00011631●●●●●●
391. 144993404 c.10666C>T p.R3556W missense 0.00011621●●●●●●
392. 144994331 c.9739C>T p.R3247W missense 0.00011613●●●●●●
393. 145004574 c.2516T>C p.V839A missense 0.00011538●●●●●●
394. 145006672 c.1954G>A p.A652T missense 0.00011500●●●●●●
395. 145003355 c.3257C>T p.A1086V missense 0.00011481●●●●●●
396. 144990748 c.13322G>A p.R4441H missense 0.00011424●●●●●●
397. 144998108 c.6070G>A p.E2024K missense 0.00011420●●●●●●
398. 144994984 c.9086G>A p.R3029Q missense 0.00011408●●●●●●
399. 144999341 c.4837G>A p.A1613T missense 0.00011277●●●●●●
400. 145000022 c.4156C>T p.R1386C missense 0.00011244●●●●●●
401. 145003712 c.3032G>A p.R1011H missense 0.00011217●●●●●●
402. 144999415 c.4763G>A p.R1588Q missense 0.00011207●●●●●●
403. 144999784 c.4394G>A p.R1465Q missense 0.00011188●●●●●●
404. 145004384 c.2621G>A p.S874N missense 0.00011135●●●●●●
405. 144997894 c.6284C>T p.T2095M missense 0.00011096●●●●●●
406. 144998282 c.5896G>A p.A1966T missense 0.00011084●●●●●●
407. 145004139 c.2785G>A p.D929N missense 0.00011029●●●●●●
408. 145049423 c.115A>G p.S39G missense 0.00010964●●●●●●
409. 144996714 c.7464G>T p.K2488N missense 0.00010954●●●●●●
410. 144994391 c.9679C>T p.R3227W missense 0.00010934●●●●●●
411. 144998164 c.6014A>C p.E2005A missense 0.00010910●●●●●●
412. 144993617 c.10453C>T p.R3485W missense 0.00010889●●●●●●
413. 144994198 c.9872C>T p.A3291V missense 0.00010880●●●●●●
414. 144992714 c.11356G>A p.D3786N missense 0.00010826●●●●●●
415. 145000019 c.4159G>A p.E1387K missense 0.00010801●●●●●●
416. 144996013 c.8057A>G p.Q2686R missense 0.00010791●●●●●●
417. 145005697 c.2385+5G>A splice site 0.00010598●●●●●●
418. 144994873 c.9197G>A p.S3066N missense 0.00010487●●●●●●
419. 144994937 c.9133C>T p.R3045W missense 0.00010483●●●●●●
420. 145001736 c.3679C>T p.R1227C missense 0.00010360●●●●●●
421. 144993979 c.10091C>T p.T3364M missense 0.00010283●●●●●●
422. 145001733 c.3682G>A p.E1228K missense 0.00010213●●●●●●
423. 144992989 c.11081G>T p.R3694L missense 0.00010188●●●●●●
424. 144990892 c.13178C>T p.T4393I missense 0.00010144●●●●●●
425. 145006971 c.1808G>A p.R603Q missense 0.00010140●●●●●●
426. 145011406 c.350G>A p.R117Q missense 0.00010134●●●●●●
427. 145001224 c.3947A>T p.Y1316F missense 0.00010105●●●●●●
428. 144995546 c.8524G>A p.V2842I missense 0.00010070●●●●●●
429. 145004234 c.2694-4C>T splice site 0.00010060●●●●●●
430. 144997960 c.6218G>T p.R2073L missense 0.00010059●●●●●●
431. 144997240 c.6938C>T p.A2313V missense 0.00010056●●●●●●
432. 144994174 c.9896G>A p.R3299H missense 0.00010045●●●●●●
433. 145001807 c.3608G>A p.R1203H missense 0.00010028●●●●●●
434. 144991637 c.12433C>T p.L4145F missense 0.00009961●●●●●●
435. 144993490 c.10580G>A p.R3527H missense 0.00009959●●●●●●
436. 145003659 c.3085C>T p.R1029C missense 0.00009851●●●●●●
437. 144998156 c.6022C>T p.R2008W missense 0.00009762●●●●●●
438. 144995057 c.9013C>T p.R3005C missense 0.00009699●●●●●●
439. 144994460 c.9610G>A p.D3204N missense 0.00009682●●●●●●
440. 145007192 c.1587G>C p.Q529H missense 0.00009665●●●●●●
441. 144994918 c.9152A>G p.N3051S missense 0.00009599●●●●●●
442. 145002069 c.3433G>A p.V1145M missense 0.00009594●●●●●●
443. 144994750 c.9320A>G p.E3107G missense 0.00009578●●●●●●
444. 144994742 c.9328C>T p.R3110C missense 0.00009566●●●●●●
445. 144999628 c.4550G>A p.R1517Q missense 0.00009561●●●●●●
446. 144997999 c.6179C>T p.A2060V missense 0.00009488●●●●●●
447. 144999509 c.4669G>A p.E1557K missense 0.00009460●●●●●●
448. 144999191 c.4987C>G p.L1663V missense 0.00009448●●●●●●
449. 144995927 c.8143G>A p.V2715M missense 0.00009426●●●●●●
450. 144994409 c.9661G>A p.E3221K missense 0.00009365●●●●●●
451. 144999004 c.5174G>A p.R1725Q missense 0.00009349●●●●●●
452. 145004683 c.2407G>A p.E803K missense 0.00009338●●●●●●
453. 144996664 c.7506+8C>T splice site 0.00009330●●●●●●
454. 145006644 c.1982A>G p.E661G missense 0.00009325●●●●●●
455. 144998219 c.5959C>T p.R1987C missense 0.00009318●●●●●●
456. 144998884 c.5294G>A p.R1765Q missense 0.00009311●●●●●●
457. 145001510 c.3838-7C>T splice site 0.00009309●●●●●●
458. 144991268 c.12802G>A p.G4268S missense 0.00009245●●●●●●
459. 144998913 c.5265G>T p.Q1755H missense 0.00009211●●●●●●
460. 144991318 c.12752C>G p.A4251G missense 0.00009205●●●●●●
461. 144998170 c.6008C>T p.A2003V missense 0.00009192●●●●●●
462. 144998924 c.5254G>A p.G1752R missense 0.00009191●●●●●●
463. 144998942 c.5236C>T p.R1746W missense 0.00009173●●●●●●
464. 144991963 c.12107G>A p.R4036H missense 0.00009138●●●●●●
465. 144998590 c.5588C>T p.A1863V missense 0.00009131●●●●●●
466. 144991669 c.12401G>A p.R4134H missense 0.00009128●●●●●●
467. 144998857 c.5321C>T p.T1774M missense 0.00009127●●●●●●
468. 144993470 c.10600G>A p.D3534N missense 0.00009125●●●●●●
469. 144990356 c.13714G>A p.A4572T missense 0.00009114●●●●●●
470. 144998855 c.5323C>T p.Q1775X nonsense 0.00009099●●●●●●
471. 144998954 c.5224T>G p.L1742V missense 0.00009084●●●●●●
472. 145003647 c.3097C>T p.R1033C missense 0.00009065●●●●●●
473. 144998087 c.6091C>T p.R2031W missense 0.00009043●●●●●●
474. 144998959 c.5219A>G p.Q1740R missense 0.00009043●●●●●●
475. 145001927 c.3488G>A p.R1163Q missense 0.00009032●●●●●●
476. 145005770 c.2317C>T p.R773C missense 0.00009012●●●●●●
477. 144999326 c.4852C>G p.Q1618E missense 0.00009003●●●●●●
478. 144998678 c.5500C>T p.R1834C missense 0.00008931●●●●●●
479. 144992429 c.11641C>T p.R3881C missense 0.00008930●●●●●●
480. 144998684 c.5494C>T p.R1832C missense 0.00008902●●●●●●
481. 144992638 c.11432A>T p.Q3811L missense 0.00008852●●●●●●
482. 144995056 c.9014G>A p.R3005H missense 0.00008824●●●●●●
483. 145006356 c.2105T>C p.L702P missense 0.00008792●●●●●●
484. 144990368 c.13702G>A p.G4568S missense 0.00008775●●●●●●
485. 144994877 c.9193C>G p.L3065V missense 0.00008739●●●●●●
486. 144999044 c.5134C>T p.R1712W missense 0.00008727●●●●●●
487. 145003613 c.3131G>A p.R1044Q missense 0.00008723●●●●●●
488. 145009038 c.966G>A p.M322I missense 0.00008666●●●●●●
489. 144998147 c.6031C>T p.R2011C missense 0.00008654●●●●●●
490. 144997361 c.6817C>T p.R2273C missense 0.00008634●●●●●●
491. 144999911 c.4267C>T p.R1423C missense 0.00008634●●●●●●
492. 144993946 c.10124G>A p.R3375Q missense 0.00008632●●●●●●
493. 144999005 c.5173C>T p.R1725W missense 0.00008594●●●●●●
494. 144997642 c.6536C>T p.A2179V missense 0.00008587●●●●●●
495. 144995935 c.8135G>A p.R2712Q missense 0.00008582●●●●●●
496. 144999116 c.5062G>A p.E1688K missense 0.00008582●●●●●●
497. 144994583 c.9487G>A p.A3163T missense 0.00008568●●●●●●
498. 144993982 c.10088C>T p.T3363M missense 0.00008562●●●●●●
499. 145007396 c.1468C>T p.R490W missense 0.00008555●●●●●●
500. 144990518 c.13552A>G p.T4518A missense 0.00008552●●●●●●
501. 144990400 c.13670G>A p.R4557H missense 0.00008541●●●●●●
502. 144990491 c.13579G>A p.G4527S missense 0.00008525●●●●●●
503. 144990407 c.13663G>A p.G4555S missense 0.00008501●●●●●●
504. 144998548 c.5630C>T p.T1877M missense 0.00008476●●●●●●
505. 145006606 c.2020C>T p.R674C missense 0.00008473●●●●●●
506. 145049380 c.158T>C p.L53P missense 0.00008461●●●●●●
507. 144995819 c.8251G>A p.G2751S missense 0.00008454●●●●●●
508. 144998542 c.5636C>T p.A1879V missense 0.00008442●●●●●●
509. 144995749 c.8321G>A p.R2774Q missense 0.00008435●●●●●●
510. 144997574 c.6604G>A p.E2202K missense 0.00008430●●●●●●
511. 144993056 c.11014C>T p.R3672C missense 0.00008415●●●●●●
512. 144993293 c.10777G>A p.A3593T missense 0.00008394●●●●●●
513. 144992596 c.11474G>A p.R3825Q missense 0.00008378●●●●●●
514. 144993616 c.10454G>A p.R3485Q missense 0.00008375●●●●●●
515. 144995521 c.8549G>A p.R2850H missense 0.00008373●●●●●●
516. 144998272 c.5906C>T p.A1969V missense 0.00008373●●●●●●
517. 144993352 c.10718C>T p.A3573V missense 0.00008323●●●●●●
518. 144991802 c.12268G>A p.V4090M missense 0.00008318●●●●●●
519. 144991622 c.12448_12450delGAG p.Glu4150del inframe 0.00008303●●●●●●
520. 145007227 c.1552C>T p.R518W missense 0.00008299●●●●●●
521. 144990521 c.13549C>T p.R4517C missense 0.00008291●●●●●●
522. 144997081 c.7097C>T p.A2366V missense 0.00008238●●●●●●
523. 144990545 c.13525G>A p.G4509S missense 0.00008233●●●●●●
524. 144992701 c.11369C>T p.S3790L missense 0.00008209●●●●●●
525. 144994510 c.9560G>A p.R3187Q missense 0.00008171●●●●●●
526. 145012329 c.335G>A p.G112E missense 0.00008118●●●●●●
527. 144998375 c.5803C>T p.R1935W missense 0.00008083●●●●●●
528. 144998365 c.5813G>A p.G1938E missense 0.00008032●●●●●●
529. 144998614 c.5564G>A p.R1855Q missense 0.00008023●●●●●●
530. 145004429 c.2576G>A p.G859D missense 0.00007996●●●●●●
531. 144997430 c.6748C>T p.R2250C missense 0.00007951●●●●●●
532. 144998234 c.5944G>A p.A1982T missense 0.00007950●●●●●●
533. 144992153 c.11917C>T p.R3973W missense 0.00007912●●●●●●
534. 144997024 c.7154C>T p.A2385V missense 0.00007901●●●●●●
535. 144998092 c.6086G>A p.R2029Q missense 0.00007891●●●●●●
536. 144999431 c.4747G>A p.E1583K missense 0.00007882●●●●●●
537. 145003924 c.2894G>A p.R965Q missense 0.00007869●●●●●●
538. 144997771 c.6407G>A p.R2136Q missense 0.00007836●●●●●●
539. 145003701 c.3043G>C p.E1015Q missense 0.00007811●●●●●●
540. 144992923 c.11147C>T p.T3716M missense 0.00007731●●●●●●
541. 144991132 c.12938C>T p.T4313M missense 0.00007685●●●●●●
542. 144991103 c.12967G>A p.E4323K missense 0.00007674●●●●●●
543. 144999094 c.5084A>C p.E1695A missense 0.00007661●●●●●●
544. 144997657 c.6521C>T p.A2174V missense 0.00007632●●●●●●
545. 145006582 c.2044A>G p.K682E missense 0.00007628●●●●●●
546. 144996728 c.7450C>T p.R2484C missense 0.00007598●●●●●●
547. 145049420 c.118C>T p.R40W missense 0.00007591●●●●●●
548. 145007422 c.1442A>G p.N481S missense 0.00007586●●●●●●
549. 145001227 c.3944C>T p.T1315M missense 0.00007583●●●●●●
550. 144999772 c.4406C>T p.A1469V missense 0.00007581●●●●●●
551. 144999037 c.5141G>A p.R1714Q missense 0.00007578●●●●●●
552. 144997654 c.6524G>A p.R2175Q missense 0.00007558●●●●●●
553. 144993137 c.10933A>G p.M3645V missense 0.00007555●●●●●●
554. 144997655 c.6523C>T p.R2175W missense 0.00007555●●●●●●
555. 144999211 c.4967G>A p.R1656Q missense 0.00007550●●●●●●
556. 144995578 c.8492G>A p.R2831H missense 0.00007549●●●●●●
557. 145049500 c.38A>C p.E13A missense 0.00007549●●●●●●
558. 144993572 c.10498G>A p.G3500S missense 0.00007536●●●●●●
559. 144994154 c.9916G>C p.V3306L missense 0.00007520●●●●●●
560. 145001032 c.4045C>T p.H1349Y missense 0.00007505●●●●●●
561. 144995227 c.8843C>T p.T2948M missense 0.00007472●●●●●●
562. 144999733 c.4445G>A p.R1482H missense 0.00007444●●●●●●
563. 145006204 c.2164-4G>A splice site 0.00007415●●●●●●
564. 145001895 c.3520G>A p.D1174N missense 0.00007412●●●●●●
565. 144990436 c.13634C>G p.S4545C missense 0.00007406●●●●●●
566. 145004238 c.2694-8C>T splice site 0.00007372●●●●●●
567. 144998153 c.6025C>T p.R2009W missense 0.00007371●●●●●●
568. 144999254 c.4924C>G p.Q1642E missense 0.00007361●●●●●●
569. 144998472 c.5706C>A p.F1902L missense 0.00007354●●●●●●
570. 144999242 c.4936G>A p.E1646K missense 0.00007344●●●●●●
571. 144998402 c.5776C>T p.R1926C missense 0.00007334●●●●●●
572. 144999517 c.4661C>T p.A1554V missense 0.00007314●●●●●●
573. 144997966 c.6212A>G p.Q2071R missense 0.00007293●●●●●●
574. 144996050 c.8020G>A p.D2674N missense 0.00007290●●●●●●
575. 144993872 c.10198G>A p.E3400K missense 0.00007169●●●●●●
576. 144997267 c.6911C>T p.A2304V missense 0.00007118●●●●●●
577. 144994472 c.9598G>T p.A3200S missense 0.00007090●●●●●●
578. 144999811 c.4367C>T p.S1456L missense 0.00007043●●●●●●
579. 144998623 c.5555C>T p.A1852V missense 0.00007037●●●●●●
580. 144994798 c.9272C>T p.T3091I missense 0.00007023●●●●●●
581. 144994975 c.9095G>A p.R3032H missense 0.00007015●●●●●●
582. 144999521 c.4657G>A p.E1553K missense 0.00007015●●●●●●
583. 144994766 c.9304C>T p.R3102W missense 0.00006992●●●●●●
584. 144997306 c.6872G>A p.R2291H missense 0.00006984●●●●●●
585. 144994910 c.9160G>A p.A3054T missense 0.00006984●●●●●●
586. 144999416 c.4762C>T p.R1588W missense 0.00006983●●●●●●
587. 145001820 c.3595G>A p.V1199M missense 0.00006974●●●●●●
588. 144994565 c.9505G>A p.G3169S missense 0.00006968●●●●●●
589. 144994699 c.9371C>T p.S3124L missense 0.00006964●●●●●●
590. 145001651 c.3764G>A p.R1255Q missense 0.00006964●●●●●●
591. 145001648 c.3767G>A p.R1256Q missense 0.00006959●●●●●●
592. 145009070 c.934C>T p.R312W missense 0.00006955●●●●●●
593. 144999449 c.4729C>T p.R1577W missense 0.00006947●●●●●●
594. 144992294 c.11776C>T p.R3926C missense 0.00006941●●●●●●
595. 144999887 c.4291C>T p.R1431W missense 0.00006933●●●●●●
596. 145003671 c.3073G>A p.A1025T missense 0.00006917●●●●●●
597. 144990634 c.13436G>A p.R4479H missense 0.00006908●●●●●●
598. 144994610 c.9460C>T p.R3154W missense 0.00006860●●●●●●
599. 145008989 c.1015G>A p.E339K missense 0.00006852●●●●●●
600. 144992332 c.11738G>A p.R3913H missense 0.00006840●●●●●●
601. 145008613 c.1123G>A p.G375R missense 0.00006836●●●●●●
602. 144994283 c.9787A>G p.K3263E missense 0.00006829●●●●●●
603. 144991225 c.12845_12847dupCCT p.Ser4282dup inframe 0.00006813●●●●●●
604. 145008592 c.1144C>T p.L382F missense 0.00006793●●●●●●
605. 144998086 c.6092G>A p.R2031Q missense 0.00006787●●●●●●
606. 144998189 c.5989G>A p.A1997T missense 0.00006736●●●●●●
607. 144993187 c.10883G>A p.R3628Q missense 0.00006734●●●●●●
608. 144993052 c.11018G>A p.R3673H missense 0.00006734●●●●●●
609. 145007260 c.1519C>T p.R507C missense 0.00006724●●●●●●
610. 144994399 c.9671A>G p.Q3224R missense 0.00006714●●●●●●
611. 145001745 c.3670G>A p.V1224M missense 0.00006708●●●●●●
612. 145007465 c.1399C>T p.R467W missense 0.00006704●●●●●●
613. 144992063 c.12007G>A p.V4003I missense 0.00006692●●●●●●
614. 144997660 c.6518C>T p.A2173V missense 0.00006687●●●●●●
615. 145002096 c.3406G>A p.E1136K missense 0.00006672●●●●●●
616. 144999124 c.5054C>T p.A1685V missense 0.00006671●●●●●●
617. 144991612 c.12458G>A p.R4153Q missense 0.00006643●●●●●●
618. 144991648 c.12422C>T p.T4141M missense 0.00006641●●●●●●
619. 145002132 c.3370G>A p.G1124S missense 0.00006636●●●●●●
620. 144993453 c.10617C>A p.F3539L missense 0.00006634●●●●●●
621. 144995372 c.8698G>A p.E2900K missense 0.00006633●●●●●●
622. 144995375 c.8695G>A p.V2899M missense 0.00006632●●●●●●
623. 144998766 c.5412G>C p.E1804D missense 0.00006612●●●●●●
624. 144998017 c.6161G>A p.R2054Q missense 0.00006608●●●●●●
625. 145001802 c.3613C>T p.R1205W missense 0.00006608●●●●●●
626. 144996322 c.7748G>A p.R2583Q missense 0.00006607●●●●●●
627. 144990446 c.13624A>G p.M4542V missense 0.00006604●●●●●●
628. 144998423 c.5755G>A p.E1919K missense 0.00006595●●●●●●
629. 145006883 c.1819-3C>T splice site 0.00006589●●●●●●
630. 144996302 c.7768G>A p.E2590K missense 0.00006557●●●●●●
631. 144999440 c.4738C>T p.R1580W missense 0.00006555●●●●●●
632. 144997625 c.6553C>T p.R2185W missense 0.00006543●●●●●●
633. 145006187 c.2177C>T p.A726V missense 0.00006511●●●●●●
634. 144997582 c.6596A>G p.K2199R missense 0.00006481●●●●●●
635. 145006315 c.2146G>A p.A716T missense 0.00006465●●●●●●
636. 144994346 c.9724A>G p.K3242E missense 0.00006421●●●●●●
637. 144996397 c.7673G>A p.R2558H missense 0.00006417●●●●●●
638. 144999260 c.4918C>T p.R1640W missense 0.00006412●●●●●●
639. 144996100 c.7970G>A p.R2657Q missense 0.00006408●●●●●●
640. 145004144 c.2780G>A p.R927H missense 0.00006393●●●●●●
641. 144996959 c.7219G>A p.A2407T missense 0.00006389●●●●●●
642. 145000050 c.4128G>A splice site 0.00006382●●●●●●
643. 145007212 c.1567G>A p.V523M missense 0.00006352●●●●●●
644. 144994535 c.9535G>A p.V3179M missense 0.00006339●●●●●●
645. 144997253 c.6925C>T p.R2309W missense 0.00006324●●●●●●
646. 144998465 c.5713C>T p.R1905W missense 0.00006323●●●●●●
647. 144990520 c.13550G>A p.R4517H missense 0.00006303●●●●●●
648. 145004445 c.2560G>A p.E854K missense 0.00006294●●●●●●
649. 144999263 c.4915C>T p.R1639W missense 0.00006292●●●●●●
650. 144998714 c.5464C>T p.R1822W missense 0.00006283●●●●●●
651. 144997750 c.6428G>A p.R2143Q missense 0.00006282●●●●●●
652. 144996977 c.7201C>T p.R2401W missense 0.00006265●●●●●●
653. 144999958 c.4220C>T p.A1407V missense 0.00006216●●●●●●
654. 144997435 c.6743G>A p.R2248H missense 0.00006214●●●●●●
655. 145007022 c.1757G>A p.R586Q missense 0.00006202●●●●●●
656. 145012406 c.258C>T p.A86A splice site 0.00006194●●●●●●
657. 144999264 c.4914G>C p.E1638D missense 0.00006194●●●●●●
658. 145007368 c.1496G>A p.R499H missense 0.00006173●●●●●●
659. 144998705 c.5473G>A p.E1825K missense 0.00006159●●●●●●
660. 144996293 c.7777G>A p.V2593M missense 0.00006152●●●●●●
661. 144996838 c.7340C>T p.T2447M missense 0.00006142●●●●●●
662. 144995971 c.8099C>T p.A2700V missense 0.00006132●●●●●●
663. 144998152 c.6026G>A p.R2009Q missense 0.00006122●●●●●●
664. 144999598 c.4580G>A p.R1527Q missense 0.00006116●●●●●●
665. 144993917 c.10153G>A p.A3385T missense 0.00006115●●●●●●
666. 144994946 c.9124A>G p.T3042A missense 0.00006115●●●●●●
667. 145007375 c.1489A>G p.M497V missense 0.00006114●●●●●●
668. 145002105 c.3397A>G p.R1133G missense 0.00006112●●●●●●
669. 144999227 c.4951C>T p.R1651C missense 0.00006108●●●●●●
670. 144996548 c.7522C>G p.Q2508E missense 0.00006106●●●●●●
671. 145003641 c.3103C>T p.R1035W missense 0.00006097●●●●●●
672. 145005712 c.2375A>T p.Q792L missense 0.00006088●●●●●●
673. 145009085 c.919C>T p.R307C missense 0.00006087●●●●●●
674. 144997327 c.6851G>A p.R2284H missense 0.00006070●●●●●●
675. 144997394 c.6784G>A p.V2262M missense 0.00006058●●●●●●
676. 144997339 c.6839C>T p.A2280V missense 0.00006057●●●●●●
677. 144993964 c.10106C>T p.S3369L missense 0.00006018●●●●●●
678. 145006205 c.2164-5C>T splice site 0.00006013●●●●●●
679. 145000035 c.4143G>C p.Q1381H missense 0.00006007●●●●●●
680. 144994412 c.9658G>A p.G3220S missense 0.00006004●●●●●●
681. 144993989 c.10081G>A p.G3361S missense 0.00005984●●●●●●
682. 144992968 c.11102G>A p.R3701H missense 0.00005981●●●●●●
683. 144991159 c.12911C>T p.T4304M missense 0.00005979●●●●●●
684. 145001649 c.3766C>T p.R1256W missense 0.00005975●●●●●●
685. 144993703 c.10367C>T p.A3456V missense 0.00005963●●●●●●
686. 144992732 c.11338G>A p.V3780M missense 0.00005944●●●●●●
687. 144992989 c.11081G>A p.R3694Q missense 0.00005943●●●●●●
688. 144996172 c.7898G>A p.R2633Q missense 0.00005942●●●●●●
689. 145006642 c.1984A>G p.K662E missense 0.00005934●●●●●●
690. 144993692 c.10378G>A p.V3460I missense 0.00005931●●●●●●
691. 144996757 c.7421G>A p.R2474H missense 0.00005930●●●●●●
692. 144999582 c.4596C>G p.D1532E missense 0.00005927●●●●●●
693. 144995762 c.8308G>A p.V2770M missense 0.00005907●●●●●●
694. 144993686 c.10384G>A p.G3462S missense 0.00005905●●●●●●
695. 144993029 c.11041G>A p.E3681K missense 0.00005895●●●●●●
696. 144991259 c.12811C>T p.R4271C missense 0.00005889●●●●●●
697. 144993092 c.10978C>T p.R3660C missense 0.00005886●●●●●●
698. 145003406 c.3206G>A p.R1069Q missense 0.00005885●●●●●●
699. 144994234 c.9836C>T p.T3279M missense 0.00005881●●●●●●
700. 144993139 c.10931G>A p.R3644H missense 0.00005876●●●●●●
701. 144999934 c.4244G>A p.R1415Q missense 0.00005876●●●●●●
702. 145011247 c.424-8G>A splice site 0.00005864●●●●●●
703. 144994175 c.9895C>T p.R3299C missense 0.00005859●●●●●●
704. 144999851 c.4327C>T p.R1443C missense 0.00005854●●●●●●
705. 144991424 c.12646G>A p.V4216M missense 0.00005843●●●●●●
706. 144999662 c.4516C>G p.R1506G missense 0.00005840●●●●●●
707. 144992032 c.12038C>T p.T4013M missense 0.00005834●●●●●●
708. 144995188 c.8882C>T p.T2961M missense 0.00005834●●●●●●
709. 144998069 c.6109G>C p.E2037Q missense 0.00005834●●●●●●
710. 144997183 c.6995G>A p.R2332Q missense 0.00005833●●●●●●
711. 144999352 c.4826G>A p.R1609H missense 0.00005820●●●●●●
712. 144993382 c.10688C>T p.T3563M missense 0.00005814●●●●●●
713. 144992351 c.11719G>A p.A3907T missense 0.00005809●●●●●●
714. 144999656 c.4522C>T p.R1508W missense 0.00005809●●●●●●
715. 144999752 c.4426C>T p.R1476C missense 0.00005807●●●●●●
716. 144993439 c.10631C>T p.T3544M missense 0.00005804●●●●●●
717. 144996420 c.7650G>T p.E2550D missense 0.00005798●●●●●●
718. 144996290 c.7780C>T p.R2594W missense 0.00005756●●●●●●
719. 144999091 c.5087C>T p.A1696V missense 0.00005751●●●●●●
720. 144999094 c.5084_5086delAGG p.Glu1695del inframe 0.00005751●●●●●●
721. 144996934 c.7244G>A p.R2415H missense 0.00005711●●●●●●
722. 144998080 c.6098C>T p.A2033V missense 0.00005709●●●●●●
723. 144993785 c.10285G>A p.V3429M missense 0.00005698●●●●●●
724. 144999454 c.4724C>T p.A1575V missense 0.00005693●●●●●●
725. 145003994 c.2824C>T p.R942C missense 0.00005656●●●●●●
726. 145004000 c.2821-3C>A splice site 0.00005652●●●●●●
727. 144990455 c.13615G>A p.G4539S missense 0.00005612●●●●●●
728. 144999774 c.4404G>C p.E1468D missense 0.00005611●●●●●●
729. 144997838 c.6340C>T p.R2114W missense 0.00005568●●●●●●
730. 144990496 c.13574G>A p.R4525Q missense 0.00005555●●●●●●
731. 144997837 c.6341G>A p.R2114Q missense 0.00005546●●●●●●
732. 144997587 c.6591T>A p.H2197Q missense 0.00005545●●●●●●
733. 144999867 c.4311C>A p.D1437E missense 0.00005526●●●●●●
734. 144996286 c.7784G>A p.R2595H missense 0.00005521●●●●●●
735. 145001832 c.3583G>A p.G1195R missense 0.00005488●●●●●●
736. 144992711 c.11359C>T p.R3787C missense 0.00005480●●●●●●
737. 145004709 c.2386-5C>A splice site 0.00005474●●●●●●
738. 145001705 c.3710G>A p.R1237H missense 0.00005472●●●●●●
739. 145001938 c.3481-4A>G splice site 0.00005468●●●●●●
740. 144997951 c.6227C>T p.A2076V missense 0.00005427●●●●●●
741. 144994337 c.9733C>T p.R3245W missense 0.00005411●●●●●●
742. 144997255 c.6923C>T p.A2308V missense 0.00005405●●●●●●
743. 144999001 c.5177A>G p.Q1726R missense 0.00005393●●●●●●
744. 144998692 c.5486A>G p.E1829G missense 0.00005386●●●●●●
745. 144990781 c.13289C>T p.P4430L missense 0.00005382●●●●●●
746. 144998335 c.5843G>A p.R1948Q missense 0.00005378●●●●●●
747. 145006859 c.1840C>T p.R614W missense 0.00005367●●●●●●
748. 144999805 c.4373C>T p.A1458V missense 0.00005358●●●●●●
749. 145004427 c.2578C>T p.P860S missense 0.00005358●●●●●●
750. 144999968 c.4210G>A p.E1404K missense 0.00005357●●●●●●
751. 144994385 c.9685G>A p.D3229N missense 0.00005355●●●●●●
752. 144990575 c.13495A>C p.K4499Q missense 0.00005315●●●●●●
753. 144997429 c.6749G>A p.R2250H missense 0.00005299●●●●●●
754. 144999043 c.5135G>A p.R1712Q missense 0.00005284●●●●●●
755. 144992443 c.11627C>T p.P3876L missense 0.00005279●●●●●●
756. 144990746 c.13324G>A p.G4442S missense 0.00005264●●●●●●
757. 145000015 c.4163G>A p.R1388Q missense 0.00005261●●●●●●
758. 144994966 c.9104G>A p.R3035Q missense 0.00005252●●●●●●
759. 144992828 c.11242C>T p.R3748C missense 0.00005248●●●●●●
760. 144994694 c.9376G>A p.E3126K missense 0.00005237●●●●●●
761. 144997307 c.6871C>T p.R2291C missense 0.00005235●●●●●●
762. 144997394 c.6784G>T p.V2262L missense 0.00005193●●●●●●
763. 144996965 c.7213A>G p.M2405V missense 0.00005181●●●●●●
764. 144992723 c.11347G>A p.E3783K missense 0.00005169●●●●●●
765. 145003667 c.3077G>A p.C1026Y missense 0.00005167●●●●●●
766. 144993956 c.10114G>A p.G3372S missense 0.00005165●●●●●●
767. 144997874 c.6304G>A p.V2102M missense 0.00005160●●●●●●
768. 145006699 c.1927G>C p.E643Q missense 0.00005123●●●●●●
769. 145003658 c.3086G>A p.R1029H missense 0.00005122●●●●●●
770. 144991126 c.12944C>T p.T4315M missense 0.00005122●●●●●●
771. 144996946 c.7232G>A p.R2411H missense 0.00005109●●●●●●
772. 144999061 c.5117C>T p.A1706V missense 0.00005081●●●●●●
773. 144992108 c.11962G>A p.G3988S missense 0.00005080●●●●●●
774. 144997015 c.7163C>T p.T2388M missense 0.00005072●●●●●●
775. 145001485 c.3856G>A p.E1286K missense 0.00005059●●●●●●
776. 145004650 c.2440C>T p.R814W missense 0.00005051●●●●●●
777. 144993058 c.11012G>A p.R3671H missense 0.00005049●●●●●●
778. 144993059 c.11011C>T p.R3671C missense 0.00005049●●●●●●
779. 144991010 c.13060G>A p.G4354S missense 0.00005047●●●●●●
780. 144993158 c.10912G>A p.G3638S missense 0.00005040●●●●●●
781. 145011337 c.419G>A p.R140H missense 0.00005040●●●●●●
782. 144996250 c.7820G>A p.R2607Q missense 0.00005035●●●●●●
783. 144997960 c.6218G>A p.R2073Q missense 0.00005029●●●●●●
784. 144991298 c.12772G>A p.E4258K missense 0.00005028●●●●●●
785. 144995162 c.8908C>T p.R2970W missense 0.00005028●●●●●●
786. 144993608 c.10462G>A p.G3488S missense 0.00005026●●●●●●
787. 145007512 c.1352G>A p.R451Q missense 0.00005025●●●●●●
788. 144995519 c.8551G>A p.V2851M missense 0.00005023●●●●●●
789. 144991319 c.12751G>A p.A4251T missense 0.00005021●●●●●●
790. 144993320 c.10750G>A p.V3584M missense 0.00005016●●●●●●
791. 145003898 c.2920G>A p.G974R missense 0.00005002●●●●●●
792. 145000966 c.4111A>G p.M1371V missense 0.00004994●●●●●●
793. 144992014 c.12056G>A p.R4019H missense 0.00004993●●●●●●
794. 144993515 c.10555G>A p.G3519S missense 0.00004984●●●●●●
795. 144993488 c.10582G>A p.V3528I missense 0.00004979●●●●●●
796. 144990527 c.13543G>A p.G4515S missense 0.00004977●●●●●●
797. 145003892 c.2926G>A p.E976K missense 0.00004975●●●●●●
798. 144998146 c.6032G>A p.R2011H missense 0.00004973●●●●●●
799. 144996365 c.7705G>C p.E2569Q missense 0.00004968●●●●●●
800. 144992237 c.11833A>G p.I3945V missense 0.00004967●●●●●●
801. 145000007 c.4171G>A p.E1391K missense 0.00004956●●●●●●
802. 144999388 c.4790C>T p.A1597V missense 0.00004945●●●●●●
803. 144996248 c.7822C>T p.R2608W missense 0.00004943●●●●●●
804. 144997963 c.6215A>C p.K2072T missense 0.00004934●●●●●●
805. 144997712 c.6466G>T p.A2156S missense 0.00004917●●●●●●
806. 145004399 c.2606T>A p.L869H missense 0.00004899●●●●●●
807. 144999910 c.4268G>A p.R1423H missense 0.00004868●●●●●●
808. 144997063 c.7115G>A p.R2372Q missense 0.00004866●●●●●●
809. 144993806 c.10264A>G p.T3422A missense 0.00004854●●●●●●
810. 145004655 c.2435C>T p.A812V missense 0.00004848●●●●●●
811. 144996160 c.7910C>T p.A2637V missense 0.00004834●●●●●●
812. 145003942 c.2876A>G p.H959R missense 0.00004823●●●●●●
813. 144993817 c.10253C>T p.A3418V missense 0.00004809●●●●●●
814. 144992537 c.11533C>T p.L3845F missense 0.00004802●●●●●●
815. 144997001 c.7177C>T p.R2393W missense 0.00004795●●●●●●
816. 144999316 c.4862G>A p.R1621H missense 0.00004789●●●●●●
817. 144990460 c.13610G>T p.G4537V missense 0.00004769●●●●●●
818. 144993793 c.10277T>C p.V3426A missense 0.00004760●●●●●●
819. 144994357 c.9713C>T p.P3238L missense 0.00004750●●●●●●
820. 144996247 c.7823G>A p.R2608Q missense 0.00004745●●●●●●
821. 144993832 c.10238C>T p.A3413V missense 0.00004743●●●●●●
822. 144998023 c.6155G>A p.R2052Q missense 0.00004720●●●●●●
823. 144996935 c.7243C>T p.R2415C missense 0.00004708●●●●●●
824. 145007139 c.1640C>T p.S547F missense 0.00004704●●●●●●
825. 145000003 c.4175T>C p.V1392A missense 0.00004694●●●●●●
826. 144996894 c.7284_7286delGGA p.Glu2428del inframe 0.00004677●●●●●●
827. 144996997 c.7181C>T p.T2394M missense 0.00004671●●●●●●
828. 144999604 c.4574G>A p.R1525H missense 0.00004664●●●●●●
829. 144997228 c.6950C>T p.A2317V missense 0.00004639●●●●●●
830. 145003634 c.3110C>T p.P1037L missense 0.00004635●●●●●●
831. 144998131 c.6047G>A p.R2016H missense 0.00004631●●●●●●
832. 144997456 c.6722C>T p.A2241V missense 0.00004613●●●●●●
833. 144998113 c.6065C>T p.A2022V missense 0.00004603●●●●●●
834. 144999362 c.4816C>A p.Q1606K missense 0.00004600●●●●●●
835. 144998401 c.5777G>A p.R1926H missense 0.00004579●●●●●●
836. 144999323 c.4855C>G p.L1619V missense 0.00004571●●●●●●
837. 144998096 c.6082G>T p.A2028S missense 0.00004529●●●●●●
838. 144997252 c.6926G>A p.R2309Q missense 0.00004522●●●●●●
839. 144997772 c.6406C>T p.R2136W missense 0.00004521●●●●●●
840. 144999694 c.4484G>A p.R1495H missense 0.00004519●●●●●●
841. 144999130 c.5048G>C p.S1683T missense 0.00004518●●●●●●
842. 145008177 c.1333C>G p.L445V missense 0.00004516●●●●●●
843. 144998677 c.5501G>A p.R1834H missense 0.00004499●●●●●●
844. 144998356 c.5822A>G p.E1941G missense 0.00004496●●●●●●
845. 144994397 c.9673C>T p.R3225W missense 0.00004495●●●●●●
846. 145006206 c.2164-6C>T splice site 0.00004494●●●●●●
847. 144999734 c.4444C>T p.R1482C missense 0.00004485●●●●●●
848. 144990773 c.13297G>A p.V4433M missense 0.00004483●●●●●●
849. 144996991 c.7187A>C p.E2396A missense 0.00004481●●●●●●
850. 145004167 c.2757C>G p.S919R missense 0.00004477●●●●●●
851. 144994330 c.9740G>A p.R3247Q missense 0.00004465●●●●●●
852. 144995992 c.8078C>T p.A2693V missense 0.00004422●●●●●●
853. 144990586 c.13484C>T p.A4495V missense 0.00004407●●●●●●
854. 144994802 c.9268G>A p.G3090S missense 0.00004389●●●●●●
855. 144995978 c.8092C>T p.R2698W missense 0.00004389●●●●●●
856. 145006865 c.1834G>T p.A612S missense 0.00004374●●●●●●
857. 145002017 c.3480+5C>G splice site 0.00004374●●●●●●
858. 145002017 c.3480+5C>T splice site 0.00004374●●●●●●
859. 144994768 c.9302C>T p.A3101V missense 0.00004372●●●●●●
860. 144994861 c.9209C>T p.A3070V missense 0.00004370●●●●●●
861. 144997111 c.7067C>T p.A2356V missense 0.00004366●●●●●●
862. 144997418 c.6760G>A p.E2254K missense 0.00004365●●●●●●
863. 144994390 c.9680G>A p.R3227Q missense 0.00004358●●●●●●
864. 144996926 c.7252G>A p.E2418K missense 0.00004338●●●●●●
865. 145001774 c.3641G>A p.R1214H missense 0.00004325●●●●●●
866. 145009010 c.994C>T p.R332C missense 0.00004313●●●●●●
867. 144993950 c.10120G>A p.V3374M missense 0.00004311●●●●●●
868. 144995942 c.8128G>A p.A2710T missense 0.00004309●●●●●●
869. 145003722 c.3022C>T p.R1008C missense 0.00004300●●●●●●
870. 144998480 c.5698G>A p.E1900K missense 0.00004282●●●●●●
871. 144992957 c.11113G>A p.E3705K missense 0.00004280●●●●●●
872. 144997853 c.6325G>A p.E2109K missense 0.00004269●●●●●●
873. 144992974 c.11096G>C p.S3699T missense 0.00004260●●●●●●
874. 145002045 c.3457G>A p.E1153K missense 0.00004256●●●●●●
875. 144995906 c.8164C>T p.R2722C missense 0.00004251●●●●●●
876. 145049357 c.181A>G p.I61V missense 0.00004250●●●●●●
877. 145009179 c.906C>T p.N302N splice site 0.00004240●●●●●●
878. 144994262 c.9808G>A p.V3270M missense 0.00004235●●●●●●
879. 144996982 c.7196G>A p.R2399Q missense 0.00004224●●●●●●
880. 145049410 c.128G>T p.G43V missense 0.00004221●●●●●●
881. 144990902 c.13168C>T p.R4390C missense 0.00004214●●●●●●
882. 144993209 c.10861G>C p.D3621H missense 0.00004213●●●●●●
883. 144993211 c.10859C>T p.S3620L missense 0.00004212●●●●●●
884. 144991258 c.12812G>A p.R4271H missense 0.00004208●●●●●●
885. 144994240 c.9830C>T p.T3277M missense 0.00004205●●●●●●
886. 145011326 c.423+7C>T splice site 0.00004202●●●●●●
887. 144997751 c.6427C>T p.R2143W missense 0.00004200●●●●●●
888. 145001194 c.3977C>T p.P1326L missense 0.00004196●●●●●●
889. 144991289 c.12781G>A p.D4261N missense 0.00004194●●●●●●
890. 145009223 c.862G>A p.A288T missense 0.00004194●●●●●●
891. 144995645 c.8425A>G p.T2809A missense 0.00004193●●●●●●
892. 145007449 c.1415C>T p.A472V missense 0.00004193●●●●●●
893. 144995579 c.8491C>T p.R2831C missense 0.00004191●●●●●●
894. 144993601 c.10469G>A p.R3490H missense 0.00004190●●●●●●
895. 145008895 c.1030C>G p.L344V missense 0.00004187●●●●●●
896. 144994162 c.9908C>T p.T3303M missense 0.00004180●●●●●●
897. 144999764 c.4414C>T p.R1472C missense 0.00004180●●●●●●
898. 144998504 c.5674C>T p.R1892C missense 0.00004175●●●●●●
899. 144991400 c.12670C>T p.R4224C missense 0.00004175●●●●●●
900. 144993544 c.10526G>A p.R3509H missense 0.00004167●●●●●●
901. 145001026 c.4051A>C p.S1351R missense 0.00004167●●●●●●
902. 144990463 c.13607C>G p.T4536S missense 0.00004166●●●●●●
903. 144999724 c.4454G>A p.R1485H missense 0.00004164●●●●●●
904. 145000972 c.4105C>T p.R1369W missense 0.00004162●●●●●●
905. 144995200 c.8870C>T p.S2957L missense 0.00004161●●●●●●
906. 144999866 c.4312G>A p.A1438T missense 0.00004161●●●●●●
907. 144991958 c.12112G>A p.V4038I missense 0.00004154●●●●●●
908. 144995468 c.8602C>T p.R2868C missense 0.00004151●●●●●●
909. 144993403 c.10667G>A p.R3556Q missense 0.00004150●●●●●●
910. 144991670 c.12400C>T p.R4134C missense 0.00004149●●●●●●
911. 144993457 c.10613G>A p.G3538D missense 0.00004147●●●●●●
912. 144990521 c.13549C>A p.R4517S missense 0.00004146●●●●●●
913. 144998461 c.5717G>A p.R1906Q missense 0.00004141●●●●●●
914. 145003640 c.3104G>A p.R1035Q missense 0.00004111●●●●●●
915. 144999418 c.4760C>T p.A1587V missense 0.00004109●●●●●●
916. 145007158 c.1621C>T p.R541C missense 0.00004092●●●●●●
917. 144990508 c.13562G>A p.R4521H missense 0.00004081●●●●●●
918. 144999565 c.4613G>A p.R1538Q missense 0.00004074●●●●●●
919. 144994508 c.9562G>C p.G3188R missense 0.00004069●●●●●●
920. 144997738 c.6440C>T p.S2147L missense 0.00004062●●●●●●
921. 144996461 c.7609G>A p.E2537K missense 0.00004043●●●●●●
922. 145007188 c.1591G>T p.A531S missense 0.00004031●●●●●●
923. 144992512 c.11558G>A p.R3853H missense 0.00004022●●●●●●
924. 144999877 c.4301C>T p.A1434V missense 0.00004008●●●●●●
925. 145003904 c.2914G>A p.G972S missense 0.00003996●●●●●●
926. 145008250 c.1260T>G p.C420W missense 0.00003991●●●●●●
927. 144990493 c.13577C>T p.A4526V missense 0.00003979●●●●●●
928. 145008245 c.1265A>G p.Q422R missense 0.00003970●●●●●●
929. 144996173 c.7897C>T p.R2633W missense 0.00003963●●●●●●
930. 144997723 c.6455C>T p.A2152V missense 0.00003962●●●●●●
931. 144997721 c.6457C>G p.Q2153E missense 0.00003953●●●●●●
932. 144994520 c.9550G>A p.A3184T missense 0.00003948●●●●●●
933. 144992356 c.11714C>T p.S3905L missense 0.00003918●●●●●●
934. 145004364 c.2641G>A p.V881M missense 0.00003901●●●●●●
935. 145002165 c.3342-5G>A splice site 0.00003901●●●●●●
936. 144997819 c.6359C>T p.A2120V missense 0.00003897●●●●●●
937. 144997996 c.6182G>A p.R2061Q missense 0.00003896●●●●●●
938. 144999994 c.4184C>T p.A1395V missense 0.00003889●●●●●●
939. 144999098 c.5080G>A p.E1694K missense 0.00003882●●●●●●
940. 144992266 c.11804C>T p.A3935V missense 0.00003876●●●●●●
941. 144997670 c.6508G>A p.E2170K missense 0.00003859●●●●●●
942. 144997522 c.6656G>A p.R2219Q missense 0.00003816●●●●●●
943. 144997562 c.6616C>T p.R2206W missense 0.00003794●●●●●●
944. 144992743 c.11327G>A p.R3776Q missense 0.00003792●●●●●●
945. 144999212 c.4966C>G p.R1656G missense 0.00003789●●●●●●
946. 144998426 c.5752A>G p.I1918V missense 0.00003783●●●●●●
947. 144992276 c.11794G>A p.E3932K missense 0.00003777●●●●●●
948. 145004446 c.2559C>A p.D853E missense 0.00003777●●●●●●
949. 145001609 c.3806A>G p.Q1269R missense 0.00003776●●●●●●
950. 145001847 c.3568C>G p.L1190V missense 0.00003770●●●●●●
951. 145004382 c.2623G>A p.E875K missense 0.00003761●●●●●●
952. 144997788 c.6390G>T p.E2130D missense 0.00003753●●●●●●
953. 144993838 c.10232C>T p.T3411M missense 0.00003742●●●●●●
954. 144999083 c.5095G>A p.E1699K missense 0.00003738●●●●●●
955. 145003646 c.3098G>A p.R1033H missense 0.00003736●●●●●●
956. 145001837 c.3578G>A p.R1193Q missense 0.00003694●●●●●●
957. 144996205 c.7865G>A p.R2622H missense 0.00003682●●●●●●
958. 144998155 c.6023G>A p.R2008Q missense 0.00003674●●●●●●
959. 144996080 c.7990G>A p.A2664T missense 0.00003662●●●●●●
960. 144999517 c.4661C>G p.A1554G missense 0.00003657●●●●●●
961. 145005812 c.2275C>T p.R759W missense 0.00003655●●●●●●
962. 144999989 c.4189G>C p.E1397Q missense 0.00003649●●●●●●
963. 145001928 c.3487C>T p.R1163W missense 0.00003643●●●●●●
964. 144992393 c.11677C>G p.R3893G missense 0.00003638●●●●●●
965. 144993862 c.10208G>A p.R3403H missense 0.00003634●●●●●●
966. 144999208 c.4970A>G p.E1657G missense 0.00003634●●●●●●
967. 144997129 c.7049C>T p.T2350M missense 0.00003631●●●●●●
968. 144992698 c.11372C>T p.A3791V missense 0.00003628●●●●●●
969. 144999599 c.4579C>T p.R1527W missense 0.00003628●●●●●●
970. 144997447 c.6731C>T p.T2244M missense 0.00003615●●●●●●
971. 144992165 c.11905G>A p.A3969T missense 0.00003614●●●●●●
972. 145001931 c.3484C>G p.L1162V missense 0.00003612●●●●●●
973. 145005803 c.2284G>A p.E762K missense 0.00003608●●●●●●
974. 144999800 c.4378A>G p.I1460V missense 0.00003591●●●●●●
975. 144990788 c.13282G>A p.D4428N missense 0.00003585●●●●●●
976. 144998338 c.5840G>A p.R1947Q missense 0.00003584●●●●●●
977. 144992774 c.11296G>A p.G3766R missense 0.00003566●●●●●●
978. 144992662 c.11408C>T p.T3803I missense 0.00003560●●●●●●
979. 145004181 c.2743G>A p.V915M missense 0.00003555●●●●●●
980. 145003359 c.3253C>T p.P1085S missense 0.00003553●●●●●●
981. 144998668 c.5510C>T p.A1837V missense 0.00003550●●●●●●
982. 145006339 c.2122C>T p.R708W missense 0.00003541●●●●●●
983. 144999702 c.4476G>C p.E1492D missense 0.00003521●●●●●●
984. 144996842 c.7336C>T p.R2446C missense 0.00003519●●●●●●
985. 144994320 c.9750G>T p.E3250D missense 0.00003517●●●●●●
986. 144994796 c.9274G>A p.G3092R missense 0.00003513●●●●●●
987. 145006368 c.2093_2095delAGA p.Lys698del inframe 0.00003511●●●●●●
988. 144994822 c.9248C>A p.A3083D missense 0.00003506●●●●●●
989. 145007085 c.1694G>A p.R565H missense 0.00003502●●●●●●
990. 144994835 c.9235G>A p.D3079N missense 0.00003501●●●●●●
991. 144997815 c.6363G>C p.E2121D missense 0.00003500●●●●●●
992. 145003407 c.3205C>T p.R1069W missense 0.00003499●●●●●●
993. 144990734 c.13336G>A p.A4446T missense 0.00003487●●●●●●
994. 144994751 c.9319G>A p.E3107K missense 0.00003484●●●●●●
995. 144999886 c.4292G>A p.R1431Q missense 0.00003481●●●●●●
996. 144999383 c.4795C>T p.R1599C missense 0.00003474●●●●●●
997. 144999814 c.4364G>A p.S1455N missense 0.00003474●●●●●●
998. 144992146 c.11924C>T p.S3975L missense 0.00003472●●●●●●
999. 144997322 c.6856A>G p.K2286E missense 0.00003472●●●●●●
1000. 145003299 c.3313C>T p.R1105C missense 0.00003469●●●●●●
1001. 145009022 c.982G>A p.A328T missense 0.00003463●●●●●●
1002. 145008173 c.1337T>A p.L446Q missense 0.00003461●●●●●●
1003. 144997381 c.6797A>T p.E2266V missense 0.00003453●●●●●●
1004. 144999821 c.4357C>T p.R1453W missense 0.00003451●●●●●●
1005. 144997777 c.6401C>T p.S2134F missense 0.00003441●●●●●●
1006. 145004319 c.2686G>A p.V896I missense 0.00003441●●●●●●
1007. 144995936 c.8134C>T p.R2712W missense 0.00003436●●●●●●
1008. 144995096 c.8974G>A p.E2992K missense 0.00003432●●●●●●
1009. 145001715 c.3700C>T p.R1234C missense 0.00003426●●●●●●
1010. 145006711 c.1915C>T p.L639F missense 0.00003411●●●●●●
1011. 145007244 c.1535G>A p.R512H missense 0.00003409●●●●●●
1012. 144993701 c.10369G>A p.E3457K missense 0.00003400●●●●●●
1013. 144998014 c.6164C>T p.A2055V missense 0.00003400●●●●●●
1014. 144998096 c.6082G>A p.A2028T missense 0.00003397●●●●●●
1015. 144992990 c.11080C>T p.R3694W missense 0.00003393●●●●●●
1016. 145006588 c.2038G>A p.A680T missense 0.00003390●●●●●●
1017. 144993257 c.10813G>A p.G3605S missense 0.00003390●●●●●●
1018. 144996761 c.7417G>A p.E2473K missense 0.00003389●●●●●●
1019. 144996766 c.7412A>G p.D2471G missense 0.00003389●●●●●●
1020. 144993263 c.10807G>A p.G3603S missense 0.00003387●●●●●●
1021. 145008573 c.1163A>G p.Y388C missense 0.00003387●●●●●●
1022. 145008567 c.1169C>T p.P390L missense 0.00003384●●●●●●
1023. 145008501 c.1235G>A p.R412H missense 0.00003381●●●●●●
1024. 145010082 c.617G>A p.R206Q missense 0.00003380●●●●●●
1025. 145049390 c.148G>T p.G50W missense 0.00003380●●●●●●
1026. 145007417 c.1447G>A p.V483M missense 0.00003379●●●●●●
1027. 144999515 c.4663G>T p.A1555S missense 0.00003378●●●●●●
1028. 144995750 c.8320C>T p.R2774W missense 0.00003373●●●●●●
1029. 144995753 c.8317C>T p.R2773W missense 0.00003373●●●●●●
1030. 145049440 c.98T>G p.L33R missense 0.00003372●●●●●●
1031. 144994570 c.9500C>T p.T3167M missense 0.00003371●●●●●●
1032. 144993023 c.11047C>T p.R3683W missense 0.00003371●●●●●●
1033. 144993201 c.10869C>G p.I3623M missense 0.00003369●●●●●●
1034. 144993197 c.10873G>A p.E3625K missense 0.00003368●●●●●●
1035. 144996712 c.7466T>A p.L2489H missense 0.00003368●●●●●●
1036. 144995735 c.8335G>A p.E2779K missense 0.00003367●●●●●●
1037. 144995737 c.8333A>G p.N2778S missense 0.00003367●●●●●●
1038. 144993062 c.11008G>A p.V3670M missense 0.00003365●●●●●●
1039. 144991003 c.13067G>A p.R4356H missense 0.00003362●●●●●●
1040. 145001207 c.3964C>T p.P1322S missense 0.00003362●●●●●●
1041. 145011338 c.418C>T p.R140C missense 0.00003360●●●●●●
1042. 144995669 c.8401G>A p.V2801I missense 0.00003360●●●●●●
1043. 144995152 c.8918G>A p.R2973H missense 0.00003359●●●●●●
1044. 144991279 c.12791C>T p.S4264L missense 0.00003358●●●●●●
1045. 144995558 c.8512G>A p.A2838T missense 0.00003358●●●●●●
1046. 144995153 c.8917C>T p.R2973C missense 0.00003357●●●●●●
1047. 145008180 c.1330G>A p.A444T missense 0.00003355●●●●●●
1048. 145007452 c.1412A>C p.K471T missense 0.00003353●●●●●●
1049. 144995534 c.8536G>A p.V2846M missense 0.00003353●●●●●●
1050. 144995585 c.8485G>A p.G2829S missense 0.00003352●●●●●●
1051. 144999512 c.4666C>T p.R1556C missense 0.00003352●●●●●●
1052. 145007479 c.1385C>T p.A462V missense 0.00003351●●●●●●
1053. 144995173 c.8897G>A p.R2966Q missense 0.00003342●●●●●●
1054. 144991397 c.12673C>T p.R4225C missense 0.00003341●●●●●●
1055. 144991396 c.12674G>A p.R4225H missense 0.00003341●●●●●●
1056. 144991427 c.12643G>A p.G4215S missense 0.00003339●●●●●●
1057. 144991388 c.12682C>T p.R4228C missense 0.00003338●●●●●●
1058. 145001034 c.4043C>T p.T1348M missense 0.00003336●●●●●●
1059. 144998567 c.5611G>A p.E1871K missense 0.00003336●●●●●●
1060. 144995497 c.8573G>A p.R2858Q missense 0.00003334●●●●●●
1061. 144991513 c.12557G>A p.R4186H missense 0.00003329●●●●●●
1062. 144991826 c.12244C>A p.P4082T missense 0.00003328●●●●●●
1063. 145012866 c.194-6C>T splice site 0.00003326●●●●●●
1064. 145003598 c.3146G>A p.R1049H missense 0.00003325●●●●●●
1065. 145008182 c.1328A>T p.D443V missense 0.00003325●●●●●●
1066. 144991961 c.12109G>A p.A4037T missense 0.00003323●●●●●●
1067. 144993386 c.10684G>A p.E3562K missense 0.00003322●●●●●●
1068. 144991606 c.12464G>A p.R4155Q missense 0.00003322●●●●●●
1069. 144995467 c.8603G>A p.R2868H missense 0.00003321●●●●●●
1070. 144993481 c.10589C>T p.A3530V missense 0.00003319●●●●●●
1071. 144991661 c.12409A>G p.T4137A missense 0.00003319●●●●●●
1072. 144993436 c.10634A>G p.H3545R missense 0.00003317●●●●●●
1073. 144993432 c.10638G>C p.E3546D missense 0.00003317●●●●●●
1074. 144995401 c.8669C>T p.T2890M missense 0.00003316●●●●●●
1075. 144995413 c.8657A>G p.H2886R missense 0.00003316●●●●●●
1076. 144995380 c.8690G>A p.R2897H missense 0.00003316●●●●●●
1077. 144995284 c.8786G>A p.R2929Q missense 0.00003313●●●●●●
1078. 144995315 c.8755G>A p.G2919R missense 0.00003313●●●●●●
1079. 144997843 c.6335C>T p.A2112V missense 0.00003291●●●●●●
1080. 145004592 c.2498G>A p.R833H missense 0.00003271●●●●●●
1081. 144999439 c.4739G>A p.R1580Q missense 0.00003270●●●●●●
1082. 145003599 c.3145C>T p.R1049C missense 0.00003270●●●●●●
1083. 145004598 c.2492G>A p.R831Q missense 0.00003263●●●●●●
1084. 144996264 c.7806G>C p.Q2602H missense 0.00003257●●●●●●
1085. 144998462 c.5716C>T p.R1906W missense 0.00003257●●●●●●
1086. 144999538 c.4640G>A p.R1547H missense 0.00003240●●●●●●
1087. 144998486 c.5692G>A p.E1898K missense 0.00003236●●●●●●
1088. 145007271 c.1508G>A p.R503H missense 0.00003229●●●●●●
1089. 144992674 c.11396G>A p.R3799H missense 0.00003214●●●●●●
1090. 145003601 c.3143A>G p.Q1048R missense 0.00003211●●●●●●
1091. 145003306 c.3306G>C p.E1102D missense 0.00003209●●●●●●
1092. 145003308 c.3304G>A p.E1102K missense 0.00003179●●●●●●
1093. 144994585 c.9485A>G p.D3162G missense 0.00003176●●●●●●
1094. 144999980 c.4198C>T p.R1400W missense 0.00003164●●●●●●
1095. 144999433 c.4745C>T p.A1582V missense 0.00003159●●●●●●
1096. 144992675 c.11395C>T p.R3799C missense 0.00003157●●●●●●
1097. 144999191 c.4987C>T p.L1663F missense 0.00003149●●●●●●
1098. 144998653 c.5525G>T p.R1842L missense 0.00003136●●●●●●
1099. 144999979 c.4199G>A p.R1400Q missense 0.00003121●●●●●●
1100. 144994592 c.9478C>G p.L3160V missense 0.00003111●●●●●●
1101. 144992723 c.11347G>C p.E3783Q missense 0.00003101●●●●●●
1102. 145004586 c.2504C>T p.P835L missense 0.00003098●●●●●●
1103. 145004586 c.2504C>A p.P835H missense 0.00003098●●●●●●
1104. 145006847 c.1852C>T p.R618C missense 0.00003090●●●●●●
1105. 144994595 c.9475C>T p.R3159C missense 0.00003087●●●●●●
1106. 144998600 c.5578C>T p.R1860W missense 0.00003083●●●●●●
1107. 144999394 c.4784A>G p.E1595G missense 0.00003066●●●●●●
1108. 144992477 c.11593T>G p.S3865A missense 0.00003065●●●●●●
1109. 145004620 c.2470C>T p.R824C missense 0.00003059●●●●●●
1110. 145003870 c.2948G>A p.R983H missense 0.00003026●●●●●●
1111. 145001658 c.3757G>A p.A1253T missense 0.00003001●●●●●●
1112. 144997805 c.6373G>C p.V2125L missense 0.00002996●●●●●●
1113. 145008215 c.1295C>T p.A432V missense 0.00002987●●●●●●
1114. 145003909 c.2909C>T p.A970V missense 0.00002983●●●●●●
1115. 144999186 c.4992G>C p.K1664N missense 0.00002978●●●●●●
1116. 145008238 c.1272C>G p.I424M missense 0.00002961●●●●●●
1117. 144992561 c.11509G>A p.V3837M missense 0.00002960●●●●●●
1118. 144999425 c.4753G>A p.E1585K missense 0.00002945●●●●●●
1119. 144997705 c.6473C>T p.A2158V missense 0.00002942●●●●●●
1120. 145004625 c.2465A>T p.K822M missense 0.00002937●●●●●●
1121. 144992333 c.11737C>T p.R3913C missense 0.00002924●●●●●●
1122. 144999661 c.4517G>A p.R1506H missense 0.00002907●●●●●●
1123. 145004575 c.2515G>A p.V839M missense 0.00002907●●●●●●
1124. 144998248 c.5930G>A p.R1977H missense 0.00002900●●●●●●
1125. 144999655 c.4523G>A p.R1508Q missense 0.00002900●●●●●●
1126. 144999646 c.4532A>C p.E1511A missense 0.00002884●●●●●●
1127. 144999622 c.4556C>T p.A1519V missense 0.00002883●●●●●●
1128. 144996259 c.7811A>G p.E2604G missense 0.00002883●●●●●●
1129. 144996469 c.7601G>A p.R2534H missense 0.00002877●●●●●●
1130. 144998257 c.5921_5926delAGCTGG p.Glu1974_Leu1975del inframe 0.00002875●●●●●●
1131. 145001780 c.3635T>C p.L1212P missense 0.00002874●●●●●●
1132. 144999181 c.4997A>G p.N1666S missense 0.00002863●●●●●●
1133. 145006203 c.2164-3C>G splice site 0.00002860●●●●●●
1134. 144997532 c.6646A>G p.T2216A missense 0.00002856●●●●●●
1135. 145003614 c.3130C>T p.R1044W missense 0.00002852●●●●●●
1136. 144996470 c.7600C>T p.R2534C missense 0.00002841●●●●●●
1137. 145004099 c.2820+5G>A splice site 0.00002839●●●●●●
1138. 144992459 c.11611C>T p.R3871C missense 0.00002837●●●●●●
1139. 144997651 c.6527G>A p.R2176Q missense 0.00002837●●●●●●
1140. 144997651 c.6527G>C p.R2176P missense 0.00002837●●●●●●
1141. 144999725 c.4453C>T p.R1485C missense 0.00002827●●●●●●
1142. 144999971 c.4207G>A p.A1403T missense 0.00002826●●●●●●
1143. 145004105 c.2819C>T p.T940M missense 0.00002820●●●●●●
1144. 144997222 c.6956G>A p.R2319Q missense 0.00002812●●●●●●
1145. 145006311 c.2150G>A p.R717Q missense 0.00002812●●●●●●
1146. 144997798 c.6380C>T p.A2127V missense 0.00002808●●●●●●
1147. 144999862 c.4316A>G p.Q1439R missense 0.00002808●●●●●●
1148. 144992458 c.11612G>A p.R3871H missense 0.00002807●●●●●●
1149. 144994627 c.9443A>G p.K3148R missense 0.00002806●●●●●●
1150. 144998416 c.5762G>A p.R1921H missense 0.00002801●●●●●●
1151. 144997624 c.6554G>A p.R2185Q missense 0.00002800●●●●●●
1152. 145004123 c.2801G>A p.R934H missense 0.00002789●●●●●●
1153. 144993842 c.10228A>C p.T3410P missense 0.00002789●●●●●●
1154. 144993773 c.10297C>T p.R3433C missense 0.00002787●●●●●●
1155. 145003319 c.3293T>A p.L1098Q missense 0.00002785●●●●●●
1156. 144997466 c.6712C>T p.R2238W missense 0.00002780●●●●●●
1157. 144997603 c.6575C>T p.A2192V missense 0.00002772●●●●●●
1158. 144997609 c.6569C>G p.A2190G missense 0.00002771●●●●●●
1159. 144999928 c.4250C>T p.A1417V missense 0.00002771●●●●●●
1160. 144999874 c.4304_4306delCGG p.A1435_V1436delinsV inframe 0.00002763●●●●●●
1161. 145002117 c.3385G>A p.E1129K missense 0.00002752●●●●●●
1162. 144994457 c.9613G>C p.A3205P missense 0.00002745●●●●●●
1163. 144997948 c.6230A>G p.E2077G missense 0.00002745●●●●●●
1164. 144992597 c.11473C>T p.R3825W missense 0.00002739●●●●●●
1165. 145001748 c.3667G>A p.D1223N missense 0.00002735●●●●●●
1166. 144992689 c.11381C>T p.A3794V missense 0.00002728●●●●●●
1167. 144998302 c.5876C>T p.A1959V missense 0.00002726●●●●●●
1168. 144996037 c.8033G>A p.R2678Q missense 0.00002726●●●●●●
1169. 144999169 c.5009G>A p.R1670Q missense 0.00002720●●●●●●
1170. 145006977 c.1802G>A p.R601Q missense 0.00002716●●●●●●
1171. 144998636 c.5542G>A p.E1848K missense 0.00002713●●●●●●
1172. 145004638 c.2452G>A p.V818I missense 0.00002711●●●●●●
1173. 144996865 c.7313A>C p.E2438A missense 0.00002705●●●●●●
1174. 145006330 c.2131C>T p.R711W missense 0.00002690●●●●●●
1175. 144998350 c.5828C>T p.T1943M missense 0.00002688●●●●●●
1176. 144994514 c.9556G>T p.A3186S missense 0.00002687●●●●●●
1177. 144996406 c.7664A>G p.Q2555R missense 0.00002654●●●●●●
1178. 145007369 c.1495C>T p.R499C missense 0.00002640●●●●●●
1179. 145007074 c.1705G>A p.A569T missense 0.00002636●●●●●●
1180. 144999880 c.4298A>G p.E1433G missense 0.00002636●●●●●●
1181. 144997426 c.6752G>A p.S2251N missense 0.00002634●●●●●●
1182. 144994319 c.9751C>G p.L3251V missense 0.00002633●●●●●●
1183. 144994806 c.9264G>C p.Q3088H missense 0.00002632●●●●●●
1184. 144994976 c.9094C>T p.R3032C missense 0.00002631●●●●●●
1185. 144994978 c.9092A>C p.E3031A missense 0.00002629●●●●●●
1186. 144992827 c.11243G>A p.R3748H missense 0.00002626●●●●●●
1187. 144992545 c.11525G>C p.G3842A missense 0.00002625●●●●●●
1188. 144992150 c.11920C>T p.L3974F missense 0.00002624●●●●●●
1189. 144994961 c.9109G>A p.V3037I missense 0.00002624●●●●●●
1190. 144994771 c.9299G>C p.S3100T missense 0.00002623●●●●●●
1191. 144992830 c.11240C>T p.A3747V missense 0.00002622●●●●●●
1192. 144994864 c.9206A>G p.N3069S missense 0.00002621●●●●●●
1193. 144994881 c.9189G>T p.Q3063H missense 0.00002621●●●●●●
1194. 144999163 c.5015G>A p.R1672Q missense 0.00002621●●●●●●
1195. 144994765 c.9305G>A p.R3102Q missense 0.00002620●●●●●●
1196. 144994447 c.9623A>T p.Y3208F missense 0.00002616●●●●●●
1197. 145009102 c.907-5C>T splice site 0.00002616●●●●●●
1198. 144997315 c.6863A>G p.N2288S missense 0.00002607●●●●●●
1199. 144997410 c.6768G>C p.E2256D missense 0.00002607●●●●●●
1200. 145009084 c.920G>A p.R307H missense 0.00002607●●●●●●
1201. 144995078 c.8992C>T p.R2998W missense 0.00002602●●●●●●
1202. 144997402 c.6776C>T p.S2259L missense 0.00002600●●●●●●
1203. 144990509 c.13561C>T p.R4521C missense 0.00002599●●●●●●
1204. 144997396 c.6782G>A p.R2261H missense 0.00002597●●●●●●
1205. 144993719 c.10351G>A p.E3451K missense 0.00002594●●●●●●
1206. 144997031 c.7147C>T p.Q2383X nonsense 0.00002591●●●●●●
1207. 144997382 c.6796G>T p.E2266X nonsense 0.00002591●●●●●●
1208. 145001735 c.3680G>A p.R1227H missense 0.00002591●●●●●●
1209. 144992609 c.11461G>C p.E3821Q missense 0.00002585●●●●●●
1210. 144994298 c.9772C>T p.R3258C missense 0.00002579●●●●●●
1211. 144995932 c.8138A>G p.E2713G missense 0.00002574●●●●●●
1212. 145009443 c.722C>G p.T241S missense 0.00002566●●●●●●
1213. 144994286 c.9784G>A p.E3262K missense 0.00002565●●●●●●
1214. 145006725 c.1901C>T p.S634F missense 0.00002560●●●●●●
1215. 144994281 c.9789G>C p.K3263N missense 0.00002559●●●●●●
1216. 144994276 c.9794C>T p.P3265L missense 0.00002556●●●●●●
1217. 145004436 c.2569C>G p.L857V missense 0.00002554●●●●●●
1218. 144993248 c.10822G>A p.G3608S missense 0.00002550●●●●●●
1219. 145049365 c.173G>C p.R58P missense 0.00002546●●●●●●
1220. 145006562 c.2058+6C>T splice site 0.00002545●●●●●●
1221. 145009180 c.905A>G p.N302S missense 0.00002543●●●●●●
1222. 144995117 c.8953A>G p.I2985V missense 0.00002543●●●●●●
1223. 144995894 c.8176G>A p.A2726T missense 0.00002543●●●●●●
1224. 145006609 c.2017G>A p.D673N missense 0.00002542●●●●●●
1225. 144996667 c.7506+5C>T splice site 0.00002542●●●●●●
1226. 145001249 c.3922G>T p.D1308Y missense 0.00002540●●●●●●
1227. 144993235 c.10835T>C p.M3612T missense 0.00002537●●●●●●
1228. 144997019 c.7159_7161delGAG p.Glu2387del inframe 0.00002534●●●●●●
1229. 144994070 c.10000G>A p.G3334S missense 0.00002532●●●●●●
1230. 144995752 c.8318G>A p.R2773Q missense 0.00002531●●●●●●
1231. 144993022 c.11048G>A p.R3683Q missense 0.00002530●●●●●●
1232. 145004440 c.2565C>G p.C855W missense 0.00002528●●●●●●
1233. 145001464 c.3877G>A p.E1293K missense 0.00002527●●●●●●
1234. 145006178 c.2186C>T p.T729M missense 0.00002527●●●●●●
1235. 144993046 c.11024C>T p.T3675M missense 0.00002525●●●●●●
1236. 144993064 c.11006A>G p.Y3669C missense 0.00002525●●●●●●
1237. 145009207 c.878C>T p.P293L missense 0.00002524●●●●●●
1238. 144993082 c.10988G>A p.G3663D missense 0.00002523●●●●●●
1239. 144993091 c.10979G>A p.R3660H missense 0.00002523●●●●●●
1240. 144995146 c.8924G>C p.G2975A missense 0.00002523●●●●●●
1241. 144995683 c.8387C>T p.S2796L missense 0.00002521●●●●●●
1242. 145001206 c.3965C>T p.P1322L missense 0.00002521●●●●●●
1243. 145011328 c.423+5G>A splice site 0.00002521●●●●●●
1244. 144992242 c.11828C>T p.T3943I missense 0.00002520●●●●●●
1245. 144993163 c.10907A>G p.Q3636R missense 0.00002520●●●●●●
1246. 144993670 c.10400A>G p.Y3467C missense 0.00002520●●●●●●
1247. 145011140 c.516+7C>T splice site 0.00002519●●●●●●
1248. 144993292 c.10778C>T p.A3593V missense 0.00002519●●●●●●
1249. 144995555 c.8515A>G p.T2839A missense 0.00002519●●●●●●
1250. 145010163 c.536G>A p.S179N missense 0.00002519●●●●●●
1251. 145010154 c.545C>T p.S182L missense 0.00002518●●●●●●
1252. 144993140 c.10930C>T p.R3644C missense 0.00002518●●●●●●
1253. 144995665 c.8405C>G p.T2802S missense 0.00002518●●●●●●
1254. 144997057 c.7121A>G p.Q2374R missense 0.00002516●●●●●●
1255. 145001147 c.4024G>A p.E1342K missense 0.00002516●●●●●●
1256. 144990989 c.13081G>A p.D4361N missense 0.00002515●●●●●●
1257. 144993602 c.10468C>T p.R3490C missense 0.00002514●●●●●●
1258. 144999964 c.4214C>T p.A1405V missense 0.00002514●●●●●●
1259. 145009269 c.816G>C p.Q272H missense 0.00002514●●●●●●
1260. 145008905 c.1027-7C>T splice site 0.00002514●●●●●●
1261. 144991310 c.12760C>T p.L4254F missense 0.00002513●●●●●●
1262. 144992069 c.12001G>A p.G4001S missense 0.00002513●●●●●●
1263. 144993581 c.10489G>T p.A3497S missense 0.00002513●●●●●●
1264. 144993583 c.10487T>G p.I3496S missense 0.00002513●●●●●●
1265. 144995593 c.8477G>A p.R2826Q missense 0.00002512●●●●●●
1266. 145003623 c.3121G>A p.E1041K missense 0.00002512●●●●●●
1267. 145007513 c.1351C>T p.R451W missense 0.00002512●●●●●●
1268. 145008896 c.1029C>A splice site 0.00002512●●●●●●
1269. 144995605 c.8465G>A p.G2822D missense 0.00002511●●●●●●
1270. 144995618 c.8452G>A p.A2818T missense 0.00002510●●●●●●
1271. 144994538 c.9532C>T p.R3178C missense 0.00002510●●●●●●
1272. 144994165 c.9905G>A p.R3302H missense 0.00002509●●●●●●
1273. 145008841 c.1084G>A p.D362N missense 0.00002507●●●●●●
1274. 145008844 c.1081G>A p.A361T missense 0.00002507●●●●●●
1275. 144991403 c.12667G>A p.D4223N missense 0.00002506●●●●●●
1276. 144991343 c.12727C>T p.R4243C missense 0.00002506●●●●●●
1277. 144995174 c.8896C>T p.R2966W missense 0.00002506●●●●●●
1278. 144991352 c.12718C>T p.L4240F missense 0.00002504●●●●●●
1279. 144991432 c.12638C>T p.S4213L missense 0.00002504●●●●●●
1280. 144997961 c.6217C>T p.R2073W missense 0.00002503●●●●●●
1281. 145004698 c.2392A>C p.K798Q missense 0.00002503●●●●●●
1282. 145006121 c.2243A>G p.N748S missense 0.00002502●●●●●●
1283. 144991495 c.12575A>G p.H4192R missense 0.00002498●●●●●●
1284. 144998627 c.5551G>A p.A1851T missense 0.00002498●●●●●●
1285. 144993359 c.10711A>G p.K3571E missense 0.00002497●●●●●●
1286. 144991847 c.12223G>A p.A4075T missense 0.00002497●●●●●●
1287. 145000971 c.4106G>A p.R1369Q missense 0.00002497●●●●●●
1288. 144991523 c.12547G>A p.E4183K missense 0.00002496●●●●●●
1289. 144991550 c.12520G>A p.E4174K missense 0.00002494●●●●●●
1290. 144991546 c.12524C>T p.T4175M missense 0.00002493●●●●●●
1291. 144991972 c.12098C>T p.S4033L missense 0.00002492●●●●●●
1292. 144991607 c.12463C>T p.R4155W missense 0.00002492●●●●●●
1293. 144991588 c.12482C>T p.S4161F missense 0.00002492●●●●●●
1294. 144993377 c.10693T>A p.L3565M missense 0.00002491●●●●●●
1295. 144991630 c.12440C>T p.P4147L missense 0.00002490●●●●●●
1296. 144991630 c.12440C>A p.P4147Q missense 0.00002490●●●●●●
1297. 144991733 c.12337G>A p.D4113N missense 0.00002489●●●●●●
1298. 144991738 c.12332C>T p.S4111L missense 0.00002489●●●●●●
1299. 144995239 c.8831T>G p.F2944C missense 0.00002489●●●●●●
1300. 145002123 c.3379G>A p.G1127R missense 0.00002489●●●●●●
1301. 144991727 c.12343A>G p.K4115E missense 0.00002488●●●●●●
1302. 144995246 c.8824G>A p.G2942S missense 0.00002488●●●●●●
1303. 144995251 c.8819C>T p.P2940L missense 0.00002488●●●●●●
1304. 144995261 c.8809G>A p.V2937M missense 0.00002487●●●●●●
1305. 144995324 c.8746G>C p.A2916P missense 0.00002485●●●●●●
1306. 144995288 c.8782G>T p.A2928S missense 0.00002484●●●●●●
1307. 145004547 c.2538+5G>A splice site 0.00002475●●●●●●
1308. 144992401 c.11669G>A p.R3890Q missense 0.00002435●●●●●●
1309. 144992404 c.11666G>C p.R3889T missense 0.00002427●●●●●●
1310. 144997064 c.7114C>T p.R2372W missense 0.00002423●●●●●●
1311. 144998057 c.6121C>G p.L2041V missense 0.00002400●●●●●●
1312. 144999143 c.5035G>A p.A1679T missense 0.00002399●●●●●●
1313. 144990511 c.13559C>T p.S4520L missense 0.00002396●●●●●●
1314. 144992387 c.11683G>A p.D3895N missense 0.00002390●●●●●●
1315. 144992536 c.11534T>G p.L3845R missense 0.00002382●●●●●●
1316. 144999884 c.4294G>A p.E1432K missense 0.00002378●●●●●●
1317. 144997970 c.6208G>T p.A2070S missense 0.00002376●●●●●●
1318. 144997970 c.6208G>A p.A2070T missense 0.00002376●●●●●●
1319. 144992625 c.11445G>T p.K3815N missense 0.00002373●●●●●●
1320. 144999559 c.4619C>T p.A1540V missense 0.00002368●●●●●●
1321. 144992384 c.11686G>A p.G3896S missense 0.00002367●●●●●●
1322. 144997066 c.7112G>C p.R2371P missense 0.00002360●●●●●●
1323. 144992293 c.11777G>A p.R3926H missense 0.00002341●●●●●●
1324. 144999138 c.5040G>T p.Q1680H missense 0.00002332●●●●●●
1325. 144999701 c.4477C>T p.R1493C missense 0.00002329●●●●●●
1326. 145003338 c.3274T>C p.S1092P missense 0.00002325●●●●●●
1327. 144999605 c.4573C>T p.R1525C missense 0.00002308●●●●●●
1328. 144997973 c.6205G>T p.A2069S missense 0.00002303●●●●●●
1329. 144998077 c.6101C>T p.A2034V missense 0.00002297●●●●●●
1330. 144999890 c.4288C>T p.R1430W missense 0.00002294●●●●●●
1331. 144997069 c.7109C>T p.A2370V missense 0.00002286●●●●●●
1332. 145001715 c.3700C>G p.R1234G missense 0.00002284●●●●●●
1333. 144992633 c.11437A>G p.M3813V missense 0.00002283●●●●●●
1334. 144997775 c.6403C>T p.R2135W missense 0.00002280●●●●●●
1335. 144998179 c.5999G>A p.R2000Q missense 0.00002280●●●●●●
1336. 144994402 c.9668A>G p.Q3223R missense 0.00002274●●●●●●
1337. 144999131 c.5047A>G p.S1683G missense 0.00002264●●●●●●
1338. 144992213 c.11857C>A p.Q3953K missense 0.00002263●●●●●●
1339. 144999130 c.5048G>A p.S1683N missense 0.00002259●●●●●●
1340. 144990485 c.13585C>T p.R4529C missense 0.00002256●●●●●●
1341. 144998093 c.6085C>T p.R2029W missense 0.00002256●●●●●●
1342. 144998570 c.5608G>A p.G1870S missense 0.00002255●●●●●●
1343. 145012333 c.331T>A p.S111T missense 0.00002254●●●●●●
1344. 144999127 c.5051T>G p.L1684R missense 0.00002237●●●●●●
1345. 144999473 c.4705C>T p.R1569W missense 0.00002233●●●●●●
1346. 144994396 c.9674G>A p.R3225Q missense 0.00002220●●●●●●
1347. 144996986 c.7192G>A p.E2398K missense 0.00002216●●●●●●
1348. 144992638 c.11432A>G p.Q3811R missense 0.00002213●●●●●●
1349. 145001706 c.3709C>T p.R1237C missense 0.00002213●●●●●●
1350. 144997072 c.7106A>G p.Q2369R missense 0.00002210●●●●●●
1351. 145008183 c.1327G>T p.D443Y missense 0.00002206●●●●●●
1352. 144999472 c.4706G>A p.R1569Q missense 0.00002198●●●●●●
1353. 144997144 c.7034C>T p.A2345V missense 0.00002174●●●●●●
1354. 144998560 c.5618C>T p.T1873M missense 0.00002173●●●●●●
1355. 144998488 c.5690C>T p.A1897V missense 0.00002170●●●●●●
1356. 145002038 c.3464C>A p.T1155N missense 0.00002165●●●●●●
1357. 144992362 c.11708C>T p.P3903L missense 0.00002157●●●●●●
1358. 145006861 c.1838C>G p.T613S missense 0.00002136●●●●●●
1359. 144996983 c.7195C>T p.R2399W missense 0.00002131●●●●●●
1360. 145003428 c.3184G>A p.G1062R missense 0.00002120●●●●●●
1361. 145005699 c.2385+3G>A splice site 0.00002113●●●●●●
1362. 145001696 c.3719G>A p.R1240H missense 0.00002110●●●●●●
1363. 145006292 c.2163+6G>T splice site 0.00002110●●●●●●
1364. 144999028 c.5150C>T p.A1717V missense 0.00002107●●●●●●
1365. 144994382 c.9688_9689insGGCCCGACC p.Arg3227_Asp3229dup inframe 0.00002106●●●●●●
1366. 144996188 c.7882C>A p.L2628M missense 0.00002105●●●●●●
1367. 145003346 c.3266C>T p.T1089M missense 0.00002101●●●●●●
1368. 144999763 c.4415G>A p.R1472H missense 0.00002098●●●●●●
1369. 144999764 c.4414C>G p.R1472G missense 0.00002090●●●●●●
1370. 144998534 c.5644G>A p.A1882T missense 0.00002083●●●●●●
1371. 144998533 c.5645C>T p.A1882V missense 0.00002082●●●●●●
1372. 145003454 c.3163-5T>C splice site 0.00002081●●●●●●
1373. 145001692 c.3723G>C p.E1241D missense 0.00002079●●●●●●
1374. 145003347 c.3265A>G p.T1089A missense 0.00002072●●●●●●
1375. 144994594 c.9476G>A p.R3159H missense 0.00002071●●●●●●
1376. 144992647 c.11423C>T p.S3808L missense 0.00002068●●●●●●
1377. 145008206 c.1304G>A p.C435Y missense 0.00002060●●●●●●
1378. 144997741 c.6437A>G p.Q2146R missense 0.00002041●●●●●●
1379. 144998225 c.5953A>G p.T1985A missense 0.00002037●●●●●●
1380. 145002059 c.3443C>T p.T1148I missense 0.00002027●●●●●●
1381. 144999107 c.5071A>G p.K1691E missense 0.00002023●●●●●●
1382. 145002062 c.3440C>T p.A1147V missense 0.00002023●●●●●●
1383. 144998614 c.5564G>C p.R1855P missense 0.00002006●●●●●●
1384. 145008254 c.1256A>G p.E419G missense 0.00002003●●●●●●
1385. 145001658 c.3757G>T p.A1253S missense 0.00002000●●●●●●
1386. 145003886 c.2932C>T p.R978W missense 0.00001997●●●●●●
1387. 144999566 c.4612C>T p.R1538W missense 0.00001991●●●●●●
1388. 145003894 c.2924C>G p.P975R missense 0.00001985●●●●●●
1389. 145003910 c.2908G>A p.A970T missense 0.00001983●●●●●●
1390. 144997715 c.6463C>T p.R2155W missense 0.00001972●●●●●●
1391. 145002065 c.3437C>T p.P1146L missense 0.00001969●●●●●●
1392. 145001637 c.3778A>G p.I1260V missense 0.00001956●●●●●●
1393. 145001867 c.3548C>A p.A1183E missense 0.00001955●●●●●●
1394. 144999460 c.4718A>G p.E1573G missense 0.00001953●●●●●●
1395. 144999101 c.5077A>G p.K1693E missense 0.00001952●●●●●●
1396. 144999955 c.4223A>C p.Q1408P missense 0.00001952●●●●●●
1397. 145004364 c.2641G>T p.V881L missense 0.00001951●●●●●●
1398. 144998243 c.5935C>T p.R1979C missense 0.00001948●●●●●●
1399. 144999662 c.4516C>T p.R1506C missense 0.00001947●●●●●●
1400. 145002166 c.3342-6C>T splice site 0.00001945●●●●●●
1401. 145005731 c.2356C>T p.R786W missense 0.00001943●●●●●●
1402. 144996904 c.7274G>T p.R2425L missense 0.00001941●●●●●●
1403. 144997679 c.6499A>G p.K2167E missense 0.00001941●●●●●●
1404. 145001858 c.3557T>C p.V1186A missense 0.00001939●●●●●●
1405. 144997184 c.6994C>T p.R2332W missense 0.00001938●●●●●●
1406. 145005730 c.2357G>A p.R786Q missense 0.00001938●●●●●●
1407. 145005730 c.2357G>T p.R786L missense 0.00001938●●●●●●
1408. 144998612 c.5566G>A p.A1856T missense 0.00001937●●●●●●
1409. 145006950 c.1818+11C>G splice site 0.00001932●●●●●●
1410. 144999652 c.4526C>T p.A1509V missense 0.00001931●●●●●●
1411. 144997187 c.6991C>T p.Q2331X nonsense 0.00001926●●●●●●
1412. 144998249 c.5929C>T p.R1977C missense 0.00001925●●●●●●
1413. 144997820 c.6358G>A p.A2120T missense 0.00001923●●●●●●
1414. 145001886 c.3529C>T p.R1177W missense 0.00001922●●●●●●
1415. 145005734 c.2353A>G p.T785A missense 0.00001921●●●●●●
1416. 145001616 c.3799G>A p.D1267N missense 0.00001920●●●●●●
1417. 144999458 c.4720G>A p.E1574K missense 0.00001920●●●●●●
1418. 145003355 c.3257C>A p.A1086E missense 0.00001914●●●●●●
1419. 144997523 c.6655C>T p.R2219W missense 0.00001913●●●●●●
1420. 145001850 c.3565C>G p.R1189G missense 0.00001913●●●●●●
1421. 145001849 c.3566G>A p.R1189Q missense 0.00001910●●●●●●
1422. 144998256 c.5922_5923insTTGGAG p.Glu1974_Leu1975dup inframe 0.00001910●●●●●●
1423. 144997193 c.6985G>A p.A2329T missense 0.00001909●●●●●●
1424. 145005737 c.2350G>A p.V784I missense 0.00001909●●●●●●
1425. 145006954 c.1818+7G>T splice site 0.00001908●●●●●●
1426. 144997552 c.6626C>T p.A2209V missense 0.00001907●●●●●●
1427. 144996155 c.7915T>C p.S2639P missense 0.00001906●●●●●●
1428. 144997502 c.6676G>A p.D2226N missense 0.00001901●●●●●●
1429. 144992177 c.11893G>A p.V3965I missense 0.00001897●●●●●●
1430. 144996896 c.7282G>C p.E2428Q missense 0.00001893●●●●●●
1431. 144992744 c.11326C>T p.R3776W missense 0.00001887●●●●●●
1432. 144997637 c.6541C>T p.Q2181X nonsense 0.00001887●●●●●●
1433. 145003993 c.2825G>A p.R942H missense 0.00001885●●●●●●
1434. 145004004 c.2821-7C>T splice site 0.00001884●●●●●●
1435. 144997088 c.7090G>A p.E2364K missense 0.00001882●●●●●●
1436. 144997091 c.7087_7089delAAG p.Lys2363del inframe 0.00001882●●●●●●
1437. 145003997 c.2821T>C p.F941L missense 0.00001881●●●●●●
1438. 144999085 c.5093G>A p.R1698H missense 0.00001879●●●●●●
1439. 145004360 c.2645G>C p.C882S missense 0.00001877●●●●●●
1440. 145001601 c.3814C>T p.R1272W missense 0.00001872●●●●●●
1441. 144997223 c.6955C>T p.R2319X nonsense 0.00001870●●●●●●
1442. 144999781 c.4397A>G p.Q1466R missense 0.00001870●●●●●●
1443. 144997628 c.6550C>G p.L2184V missense 0.00001868●●●●●●
1444. 145001843 c.3572A>G p.Q1191R missense 0.00001866●●●●●●
1445. 145004357 c.2648T>G p.F883C missense 0.00001866●●●●●●
1446. 145005748 c.2339G>A p.R780H missense 0.00001865●●●●●●
1447. 144997578 c.6600C>G p.F2200L missense 0.00001862●●●●●●
1448. 144994348 c.9722A>G p.E3241G missense 0.00001848●●●●●●
1449. 144997594 c.6584A>G p.E2195G missense 0.00001847●●●●●●
1450. 144997594 c.6584A>T p.E2195V missense 0.00001847●●●●●●
1451. 145012415 c.256-7C>G splice site 0.00001847●●●●●●
1452. 144996884 c.7294C>T p.R2432C missense 0.00001846●●●●●●
1453. 144997091 c.7087A>C p.K2363Q missense 0.00001840●●●●●●
1454. 145005751 c.2336A>T p.D779V missense 0.00001837●●●●●●
1455. 145004385 c.2620A>G p.S874G missense 0.00001836●●●●●●
1456. 144998287 c.5891C>T p.A1964V missense 0.00001835●●●●●●
1457. 145007130 c.1649G>A p.R550H missense 0.00001835●●●●●●
1458. 144996079 c.7991C>T p.A2664V missense 0.00001831●●●●●●
1459. 145004142 c.2782C>T p.R928C missense 0.00001831●●●●●●
1460. 145001937 c.3481-3C>T splice site 0.00001829●●●●●●
1461. 145002077 c.3425C>T p.A1142V missense 0.00001829●●●●●●
1462. 144996065 c.8005C>T p.P2669S missense 0.00001828●●●●●●
1463. 145005757 c.2330G>C p.S777T missense 0.00001824●●●●●●
1464. 145004145 c.2779C>T p.R927C missense 0.00001824●●●●●●
1465. 144993860 c.10210C>T p.R3404W missense 0.00001821●●●●●●
1466. 144992759 c.11311G>A p.V3771M missense 0.00001818●●●●●●
1467. 145004148 c.2776C>T p.L926F missense 0.00001818●●●●●●
1468. 144998392 c.5786C>T p.S1929L missense 0.00001816●●●●●●
1469. 144994340 c.9730G>A p.A3244T missense 0.00001812●●●●●●
1470. 145004151 c.2773A>C p.S925R missense 0.00001812●●●●●●
1471. 144994649 c.9421G>A p.V3141I missense 0.00001811●●●●●●
1472. 145001910 c.3505C>A p.Q1169K missense 0.00001810●●●●●●
1473. 145003804 c.3004+10G>A splice site 0.00001806●●●●●●
1474. 145004330 c.2675C>T p.A892V missense 0.00001805●●●●●●
1475. 144998386 c.5792G>A p.S1931N missense 0.00001805●●●●●●
1476. 145004331 c.2674G>A p.A892T missense 0.00001805●●●●●●
1477. 144993866 c.10204A>G p.M3402V missense 0.00001802●●●●●●
1478. 145005770 c.2317C>G p.R773G missense 0.00001802●●●●●●
1479. 144998382 c.5796G>C p.E1932D missense 0.00001801●●●●●●
1480. 145003358 c.3254C>T p.P1085L missense 0.00001798●●●●●●
1481. 144998374 c.5804G>A p.R1935Q missense 0.00001796●●●●●●
1482. 144990781 c.13289C>A p.P4430Q missense 0.00001794●●●●●●
1483. 145004324 c.2681A>G p.E894G missense 0.00001792●●●●●●
1484. 144994657 c.9413G>A p.G3138E missense 0.00001790●●●●●●
1485. 144993745 c.10325C>T p.A3442V missense 0.00001788●●●●●●
1486. 144997439 c.6739G>A p.A2247T missense 0.00001786●●●●●●
1487. 144997439 c.6739G>T p.A2247S missense 0.00001786●●●●●●
1488. 145001825 c.3590G>A p.R1197Q missense 0.00001784●●●●●●
1489. 144995036 c.9034G>A p.E3012K missense 0.00001778●●●●●●
1490. 144997436 c.6742C>T p.R2248C missense 0.00001775●●●●●●
1491. 144997435 c.6743G>T p.R2248L missense 0.00001775●●●●●●
1492. 145006338 c.2123G>A p.R708Q missense 0.00001772●●●●●●
1493. 144990761 c.13309G>A p.E4437K missense 0.00001770●●●●●●
1494. 145007047 c.1732G>A p.V578M missense 0.00001768●●●●●●
1495. 145007047 c.1732G>C p.V578L missense 0.00001768●●●●●●
1496. 144994672 c.9398G>A p.R3133K missense 0.00001766●●●●●●
1497. 144995006 c.9064G>A p.E3022K missense 0.00001766●●●●●●
1498. 144994673 c.9397A>G p.R3133G missense 0.00001764●●●●●●
1499. 144996845 c.7333C>T p.H2445Y missense 0.00001763●●●●●●
1500. 145007103 c.1676T>C p.V559A missense 0.00001758●●●●●●
1501. 145006359 c.2102A>T p.E701V missense 0.00001757●●●●●●
1502. 144993899 c.10171G>A p.D3391N missense 0.00001756●●●●●●
1503. 144997289 c.6889G>A p.A2297T missense 0.00001755●●●●●●
1504. 144994778 c.9292G>A p.A3098T missense 0.00001751●●●●●●
1505. 145007086 c.1693C>T p.R565C missense 0.00001751●●●●●●
1506. 144996833 c.7345C>T p.L2449F missense 0.00001749●●●●●●
1507. 145003694 c.3050A>G p.K1017R missense 0.00001749●●●●●●
1508. 144997811 c.6367G>A p.A2123T missense 0.00001748●●●●●●
1509. 144994862 c.9208G>A p.A3070T missense 0.00001747●●●●●●
1510. 144990832 c.13238G>A p.R4413H missense 0.00001747●●●●●●
1511. 144992833 c.11237T>C p.V3746A missense 0.00001747●●●●●●
1512. 144994885 c.9185G>A p.G3062E missense 0.00001747●●●●●●
1513. 145009101 c.907-4G>A splice site 0.00001746●●●●●●
1514. 144990604 c.13466G>A p.R4489Q missense 0.00001746●●●●●●
1515. 144992498 c.11572A>G p.K3858E missense 0.00001746●●●●●●
1516. 144990605 c.13465C>T p.R4489W missense 0.00001745●●●●●●
1517. 144994757 c.9313G>A p.V3105M missense 0.00001744●●●●●●
1518. 144990733 c.13337C>T p.A4446V missense 0.00001742●●●●●●
1519. 144994315 c.9755A>G p.Y3252C missense 0.00001741●●●●●●
1520. 144997312 c.6866C>T p.T2289M missense 0.00001740●●●●●●
1521. 144994747 c.9323C>T p.A3108V missense 0.00001739●●●●●●
1522. 145007381 c.1483G>C p.E495Q missense 0.00001739●●●●●●
1523. 144997318 c.6860A>C p.D2287A missense 0.00001738●●●●●●
1524. 144995959 c.8111C>T p.T2704I missense 0.00001738●●●●●●
1525. 144994730 c.9340G>T p.V3114L missense 0.00001737●●●●●●
1526. 145003701 c.3043G>A p.E1015K missense 0.00001736●●●●●●
1527. 145009027 c.977C>T p.T326M missense 0.00001734●●●●●●
1528. 144997397 c.6781C>T p.R2261C missense 0.00001733●●●●●●
1529. 145009024 c.980C>T p.A327V missense 0.00001732●●●●●●
1530. 144997342 c.6836G>A p.R2279H missense 0.00001731●●●●●●
1531. 144997343 c.6835C>T p.R2279C missense 0.00001730●●●●●●
1532. 144990713 c.13357C>T p.R4453C missense 0.00001729●●●●●●
1533. 145003706 c.3038T>C p.I1013T missense 0.00001729●●●●●●
1534. 145010023 c.676C>T p.R226W missense 0.00001728●●●●●●
1535. 144992894 c.11176G>A p.G3726S missense 0.00001727●●●●●●
1536. 144992496 c.11574G>C p.K3858N missense 0.00001727●●●●●●
1537. 144996989 c.7189_7212delGCCGAGCGGCAGCGGCAGCTGGAG p.Ala2397_Glu2404del inframe 0.00001727●●●●●●
1538. 144993947 c.10123C>T p.R3375W missense 0.00001726●●●●●●
1539. 145010024 c.675C>A p.H225Q missense 0.00001726●●●●●●
1540. 145003713 c.3031C>T p.R1011C missense 0.00001725●●●●●●
1541. 145003361 c.3251C>T p.S1084L missense 0.00001724●●●●●●
1542. 144993952 c.10118C>G p.S3373C missense 0.00001723●●●●●●
1543. 144990643 c.13427C>T p.A4476V missense 0.00001722●●●●●●
1544. 144992915 c.11155G>A p.V3719M missense 0.00001720●●●●●●
1545. 144990674 c.13396A>G p.K4466E missense 0.00001720●●●●●●
1546. 145009000 c.1004C>T p.P335L missense 0.00001719●●●●●●
1547. 144993968 c.10102C>T p.L3368F missense 0.00001718●●●●●●
1548. 145008624 c.1123-11C>T splice site 0.00001716●●●●●●
1549. 144992929 c.11141A>G p.Y3714C missense 0.00001716●●●●●●
1550. 144992945 c.11125G>A p.A3709T missense 0.00001716●●●●●●
1551. 144993972 c.10098G>C p.K3366N missense 0.00001716●●●●●●
1552. 144996808 c.7370T>C p.L2457P missense 0.00001711●●●●●●
1553. 144999445 c.4733G>T p.R1578L missense 0.00001711●●●●●●
1554. 145006696 c.1930A>G p.S644G missense 0.00001709●●●●●●
1555. 144991139 c.12931C>G p.L4311V missense 0.00001708●●●●●●
1556. 145010047 c.652C>T p.R218C missense 0.00001707●●●●●●
1557. 144994003 c.10067A>G p.E3356G missense 0.00001706●●●●●●
1558. 144991090 c.12980G>A p.R4327Q missense 0.00001705●●●●●●
1559. 144995107 c.8963C>T p.T2988M missense 0.00001705●●●●●●
1560. 144991069 c.13001C>T p.T4334M missense 0.00001705●●●●●●
1561. 144994007 c.10063T>A p.F3355I missense 0.00001705●●●●●●
1562. 145006713 c.1913G>T p.R638L missense 0.00001705●●●●●●
1563. 145006714 c.1912C>T p.R638C missense 0.00001705●●●●●●
1564. 144991187 c.12883G>T p.A4295S missense 0.00001701●●●●●●
1565. 145008597 c.1139G>A p.G380D missense 0.00001701●●●●●●
1566. 144999948 c.4230G>C p.K1410N missense 0.00001700●●●●●●
1567. 144994033 c.10037C>T p.A3346V missense 0.00001699●●●●●●
1568. 144996781 c.7397A>G p.Q2466R missense 0.00001698●●●●●●
1569. 144994043 c.10027G>A p.E3343K missense 0.00001697●●●●●●
1570. 145008588 c.1148A>G p.K383R missense 0.00001697●●●●●●
1571. 144992114 c.11956C>T p.R3986C missense 0.00001696●●●●●●
1572. 144994265 c.9805C>T p.P3269S missense 0.00001696●●●●●●
1573. 145006594 c.2032A>G p.M678V missense 0.00001695●●●●●●
1574. 145006575 c.2051G>A p.S684N missense 0.00001695●●●●●●
1575. 144996751 c.7427G>A p.R2476Q missense 0.00001695●●●●●●
1576. 145002093 c.3409G>A p.E1137K missense 0.00001695●●●●●●
1577. 145006609 c.2017G>C p.D673H missense 0.00001695●●●●●●
1578. 144993260 c.10810G>A p.G3604S missense 0.00001694●●●●●●
1579. 144994262 c.9808G>C p.V3270L missense 0.00001694●●●●●●
1580. 145009424 c.741C>G p.D247E missense 0.00001692●●●●●●
1581. 145008568 c.1168C>T p.P390S missense 0.00001692●●●●●●
1582. 145008568 c.1168C>A p.P390T missense 0.00001692●●●●●●
1583. 144995815 c.8255C>T p.T2752M missense 0.00001691●●●●●●
1584. 145001245 c.3926A>G p.Y1309C missense 0.00001691●●●●●●
1585. 145008496 c.1240G>A p.E414K missense 0.00001691●●●●●●
1586. 144996671 c.7506+1G>A essential splice site 0.00001691●●●●●●
1587. 144990893 c.13177A>G p.T4393A missense 0.00001690●●●●●●
1588. 144993008 c.11062G>A p.E3688K missense 0.00001689●●●●●●
1589. 145009419 c.746C>T p.A249V missense 0.00001689●●●●●●
1590. 145049395 c.143G>A p.S48N missense 0.00001689●●●●●●
1591. 145003363 c.3249dupA p.Ser1084IlefsTer96 frameshift 0.00001688●●●●●●
1592. 144995764 c.8306C>T p.P2769L missense 0.00001688●●●●●●
1593. 145007259 c.1520G>A p.R507H missense 0.00001688●●●●●●
1594. 145049407 c.131G>T p.G44V missense 0.00001688●●●●●●
1595. 144991022 c.13048G>A p.D4350N missense 0.00001687●●●●●●
1596. 144993017 c.11053A>C p.I3685L missense 0.00001687●●●●●●
1597. 144995758 c.8312G>A p.R2771Q missense 0.00001687●●●●●●
1598. 145007420 c.1444G>A p.D482N missense 0.00001687●●●●●●
1599. 145007420 c.1444G>T p.D482Y missense 0.00001687●●●●●●
1600. 145010088 c.611G>C p.G204A missense 0.00001687●●●●●●
1601. 144995849 c.8221G>A p.A2741T missense 0.00001686●●●●●●
1602. 145001476 c.3865G>A p.G1289S missense 0.00001686●●●●●●
1603. 145001481 c.3860G>A p.R1287H missense 0.00001686●●●●●●
1604. 145001482 c.3859C>T p.R1287C missense 0.00001686●●●●●●
1605. 145001485 c.3856G>C p.E1286Q missense 0.00001686●●●●●●
1606. 144991246 c.12824C>T p.S4275F missense 0.00001685●●●●●●
1607. 145007425 c.1439T>G p.F480C missense 0.00001685●●●●●●
1608. 145007257 c.1522C>A p.L508M missense 0.00001684●●●●●●
1609. 144994247 c.9823G>A p.G3275S missense 0.00001684●●●●●●
1610. 144999065 c.5113A>G p.K1705E missense 0.00001684●●●●●●
1611. 144993055 c.11015G>A p.R3672H missense 0.00001683●●●●●●
1612. 145009361 c.799+5G>A splice site 0.00001683●●●●●●
1613. 144993189 c.10881G>T p.Q3627H missense 0.00001683●●●●●●
1614. 144993044 c.11026G>T p.A3676S missense 0.00001683●●●●●●
1615. 144993188 c.10882C>T p.R3628W missense 0.00001683●●●●●●
1616. 145001428 c.3913G>A p.A1305T missense 0.00001683●●●●●●
1617. 144993082 c.10988G>T p.G3663V missense 0.00001682●●●●●●
1618. 145001213 c.3958C>T p.L1320F missense 0.00001682●●●●●●
1619. 145009211 c.874G>A p.V292M missense 0.00001681●●●●●●
1620. 145049513 c.25C>T p.R9W missense 0.00001681●●●●●●
1621. 144995672 c.8398G>A p.A2800T missense 0.00001680●●●●●●
1622. 144993122 c.10948A>G p.I3650V missense 0.00001680●●●●●●
1623. 144995655 c.8415G>C p.K2805N missense 0.00001680●●●●●●
1624. 144993667 c.10403C>T p.S3468L missense 0.00001679●●●●●●
1625. 145011367 c.389T>C p.V130A missense 0.00001678●●●●●●
1626. 144995656 c.8414A>C p.K2805T missense 0.00001678●●●●●●
1627. 144995659 c.8411A>T p.Y2804F missense 0.00001678●●●●●●
1628. 145009284 c.801C>T splice site 0.00001677●●●●●●
1629. 144995161 c.8909G>A p.R2970Q missense 0.00001676●●●●●●
1630. 145008905 c.1027-7delC splice site 0.00001676●●●●●●
1631. 144990979 c.13091A>G p.N4364S missense 0.00001675●●●●●●
1632. 144992083 c.11987C>T p.A3996V missense 0.00001675●●●●●●
1633. 144995587 c.8483A>G p.H2828R missense 0.00001675●●●●●●
1634. 144999064 c.5114A>G p.K1705R missense 0.00001675●●●●●●
1635. 145007482 c.1382G>A p.R461Q missense 0.00001675●●●●●●
1636. 144994175 c.9895C>G p.R3299G missense 0.00001674●●●●●●
1637. 144995513 c.8557G>A p.V2853M missense 0.00001673●●●●●●
1638. 144991321 c.12749G>A p.R4250H missense 0.00001673●●●●●●
1639. 145011184 c.479C>T p.T160I missense 0.00001672●●●●●●
1640. 144994166 c.9904C>T p.R3302C missense 0.00001672●●●●●●
1641. 145008853 c.1072G>A p.A358T missense 0.00001672●●●●●●
1642. 144992057 c.12013G>A p.D4005N missense 0.00001671●●●●●●
1643. 144993557 c.10513G>A p.V3505M missense 0.00001671●●●●●●
1644. 144994156 c.9914A>G p.K3305R missense 0.00001671●●●●●●
1645. 144991346 c.12724G>A p.D4242N missense 0.00001670●●●●●●
1646. 144991417 c.12653A>G p.K4218R missense 0.00001670●●●●●●
1647. 144994127 c.9943C>T p.L3315F missense 0.00001670●●●●●●
1648. 144995176 c.8894G>A p.R2965Q missense 0.00001670●●●●●●
1649. 145001056 c.4027-6C>G splice site 0.00001670●●●●●●
1650. 144991357 c.12713A>G p.K4238R missense 0.00001669●●●●●●
1651. 144991373 c.12697G>A p.D4233N missense 0.00001669●●●●●●
1652. 144992047 c.12023A>G p.K4008R missense 0.00001669●●●●●●
1653. 144991444 c.12626_12628delCCA p.Thr4209del inframe 0.00001668●●●●●●
1654. 144993545 c.10525C>T p.R3509C missense 0.00001667●●●●●●
1655. 144995495 c.8575C>T p.R2859C missense 0.00001666●●●●●●
1656. 144999947 c.4231G>A p.A1411T missense 0.00001666●●●●●●
1657. 145000969 c.4108C>T p.R1370C missense 0.00001665●●●●●●
1658. 144991489 c.12581C>T p.T4194M missense 0.00001665●●●●●●
1659. 144991491 c.12579G>C p.Q4193H missense 0.00001665●●●●●●
1660. 144993373 c.10697G>T p.R3566L missense 0.00001665●●●●●●
1661. 144995201 c.8869T>A p.S2957T missense 0.00001664●●●●●●
1662. 144995492 c.8578G>A p.G2860S missense 0.00001664●●●●●●
1663. 144999745 c.4433A>G p.E1478G missense 0.00001664●●●●●●
1664. 144992004 c.12066T>G p.I4022M missense 0.00001663●●●●●●
1665. 144991877 c.12193C>T p.H4065Y missense 0.00001663●●●●●●
1666. 144991559 c.12511G>A p.V4171M missense 0.00001662●●●●●●
1667. 144995218 c.8852T>C p.I2951T missense 0.00001662●●●●●●
1668. 144991967 c.12103G>A p.E4035K missense 0.00001661●●●●●●
1669. 144991772 c.12298G>A p.D4100N missense 0.00001661●●●●●●
1670. 144993515 c.10555G>T p.G3519C missense 0.00001661●●●●●●
1671. 144991757 c.12313G>A p.E4105K missense 0.00001660●●●●●●
1672. 144991766 c.12304_12306delGAG p.Glu4102del inframe 0.00001660●●●●●●
1673. 144991742 c.12328C>G p.P4110A missense 0.00001659●●●●●●
1674. 144993416 c.10654C>T p.Q3552X nonsense 0.00001659●●●●●●
1675. 144995441 c.8629A>G p.T2877A missense 0.00001659●●●●●●
1676. 145007264 c.1515C>G p.H505Q missense 0.00001659●●●●●●
1677. 144993428 c.10642C>G p.L3548V missense 0.00001658●●●●●●
1678. 144995395 c.8675T>G p.L2892R missense 0.00001658●●●●●●
1679. 144995411 c.8659G>A p.E2887K missense 0.00001658●●●●●●
1680. 144995279 c.8791G>A p.V2931I missense 0.00001657●●●●●●
1681. 145007226 c.1553G>A p.R518Q missense 0.00001651●●●●●●
1682. 144999055 c.5123A>G p.E1708G missense 0.00001647●●●●●●
1683. 145003365 c.3247C>A p.P1083T missense 0.00001638●●●●●●
1684. 145001795 c.3620G>A p.R1207Q missense 0.00001626●●●●●●
1685. 144999742 c.4436A>G p.E1479G missense 0.00001610●●●●●●
1686. 145007272 c.1507C>T p.R503C missense 0.00001605●●●●●●
1687. 145007208 c.1571C>T p.A524V missense 0.00001589●●●●●●
1688. 144996227 c.7843G>T p.A2615S missense 0.00001579●●●●●●
1689. 144999391 c.4787C>T p.T1596M missense 0.00001571●●●●●●
1690. 145003370 c.3242C>G p.P1081R missense 0.00001564●●●●●●
1691. 144998024 c.6154C>T p.R2052W missense 0.00001559●●●●●●
1692. 145012407 c.257C>T p.A86V missense 0.00001551●●●●●●
1693. 145006097 c.2259+8C>T splice site 0.00001546●●●●●●
1694. 145007279 c.1500G>A splice site 0.00001543●●●●●●
1695. 144999428 c.4750G>A p.V1584M missense 0.00001542●●●●●●
1696. 144999427 c.4751T>C p.V1584A missense 0.00001537●●●●●●
1697. 144999839 c.4339G>A p.E1447K missense 0.00001537●●●●●●
1698. 145012404 c.260A>G p.Q87R missense 0.00001530●●●●●●
1699. 144999740 c.4438_4440delGAG p.Glu1480del inframe 0.00001526●●●●●●
1700. 144992677 c.11393A>T p.Y3798F missense 0.00001522●●●●●●
1701. 144996224 c.7846G>A p.E2616K missense 0.00001517●●●●●●
1702. 144997805 c.6373G>A p.V2125M missense 0.00001498●●●●●●
1703. 144999398 c.4780delC p.Leu1594TrpfsTer149 frameshift 0.00001492●●●●●●
1704. 145007286 c.1500-7G>C splice site 0.00001491●●●●●●
1705. 144998029 c.6149G>A p.R2050H missense 0.00001490●●●●●●
1706. 144999398 c.4780C>G p.L1594V missense 0.00001471●●●●●●
1707. 145012401 c.263G>A p.R88K missense 0.00001459●●●●●●
1708. 144999424 c.4754A>G p.E1585G missense 0.00001458●●●●●●
1709. 144999422 c.4756C>T p.R1586X nonsense 0.00001449●●●●●●
1710. 144990506 c.13564A>G p.T4522A missense 0.00001448●●●●●●
1711. 145001774 c.3641G>T p.R1214L missense 0.00001442●●●●●●
1712. 144996421 c.7649A>T p.E2550V missense 0.00001437●●●●●●
1713. 144996422 c.7648G>A p.E2550K missense 0.00001434●●●●●●
1714. 144999856 c.4322A>C p.Q1441P missense 0.00001429●●●●●●
1715. 144994471 c.9599C>T p.A3200V missense 0.00001416●●●●●●
1716. 145003382 c.3230T>G p.V1077G missense 0.00001412●●●●●●
1717. 144999415 c.4763G>C p.R1588P missense 0.00001401●●●●●●
1718. 144999410 c.4768G>T p.V1590L missense 0.00001392●●●●●●
1719. 144994458 c.9612C>A p.D3204E missense 0.00001386●●●●●●
1720. 144994493 c.9577_9579delGAG p.Glu3193del inframe 0.00001386●●●●●●
1721. 144994493 c.9577G>A p.E3193K missense 0.00001382●●●●●●
1722. 144996221 c.7849_7851delGAG p.Glu2617del inframe 0.00001378●●●●●●
1723. 145001752 c.3663G>T p.Q1221H missense 0.00001372●●●●●●
1724. 144994456 c.9614C>T p.A3205V missense 0.00001362●●●●●●
1725. 144992452 c.11618A>C p.Y3873S missense 0.00001361●●●●●●
1726. 145012393 c.271A>G p.S91G missense 0.00001341●●●●●●
1727. 144994451 c.9619G>A p.A3207T missense 0.00001337●●●●●●
1728. 145001742 c.3673C>T p.R1225W missense 0.00001336●●●●●●
1729. 144997793 c.6385C>T p.R2129C missense 0.00001325●●●●●●
1730. 144992441 c.11629T>C p.S3877P missense 0.00001309●●●●●●
1731. 145004466 c.2539G>T p.V847L missense 0.00001308●●●●●●
1732. 144992255 c.11815C>T p.R3939W missense 0.00001304●●●●●●
1733. 144997792 c.6386G>A p.R2129H missense 0.00001299●●●●●●
1734. 144998037 c.6141G>C p.E2047D missense 0.00001299●●●●●●
1735. 144996434 c.7636C>A p.L2546I missense 0.00001295●●●●●●
1736. 145004462 c.2543C>G p.T848S missense 0.00001293●●●●●●
1737. 144994442 c.9628G>A p.D3210N missense 0.00001292●●●●●●
1738. 144999882 c.4296G>T p.E1432D missense 0.00001289●●●●●●
1739. 144994439 c.9631C>G p.P3211A missense 0.00001288●●●●●●
1740. 144994438 c.9632C>T p.P3211L missense 0.00001280●●●●●●
1741. 145003395 c.3217G>A p.E1073K missense 0.00001279●●●●●●
1742. 144997124 c.7054C>G p.L2352V missense 0.00001275●●●●●●
1743. 144992428 c.11642G>A p.R3881H missense 0.00001271●●●●●●
1744. 145006119 c.2245G>A p.A749T missense 0.00001267●●●●●●
1745. 144992273 c.11797G>C p.A3933P missense 0.00001266●●●●●●
1746. 144992426 c.11644C>T p.L3882F missense 0.00001265●●●●●●
1747. 145004441 c.2564G>A p.C855Y missense 0.00001263●●●●●●
1748. 144994429 c.9641G>A p.G3214E missense 0.00001257●●●●●●
1749. 145012315 c.345+4C>G splice site 0.00001257●●●●●●
1750. 145006121 c.2243A>C p.N748T missense 0.00001251●●●●●●
1751. 145003397 c.3215C>T p.A1072V missense 0.00001247●●●●●●
1752. 144998149 c.6029G>T p.R2010L missense 0.00001245●●●●●●
1753. 145008161 c.1344+5G>A splice site 0.00001244●●●●●●
1754. 144998146 c.6032G>T p.R2011L missense 0.00001243●●●●●●
1755. 144998150 c.6028C>T p.R2010C missense 0.00001243●●●●●●
1756. 144998150 c.6028C>A p.R2010S missense 0.00001243●●●●●●
1757. 145006170 c.2194A>C p.S732R missense 0.00001231●●●●●●
1758. 144994421 c.9649G>A p.A3217T missense 0.00001230●●●●●●
1759. 144996205 c.7865G>C p.R2622P missense 0.00001227●●●●●●
1760. 144994420 c.9650C>T p.A3217V missense 0.00001223●●●●●●
1761. 144998159 c.6019_6021delGAG p.Glu2007del inframe 0.00001220●●●●●●
1762. 144998159 c.6019G>A p.E2007K missense 0.00001217●●●●●●
1763. 144992396 c.11674C>T p.R3892C missense 0.00001214●●●●●●
1764. 144998160 c.6018G>T p.E2006D missense 0.00001214●●●●●●
1765. 144998161 c.6017A>T p.E2006V missense 0.00001214●●●●●●
1766. 144992393 c.11677C>T p.R3893C missense 0.00001213●●●●●●
1767. 144998164 c.6014A>T p.E2005V missense 0.00001212●●●●●●
1768. 144992392 c.11678G>T p.R3893L missense 0.00001211●●●●●●
1769. 145002125 c.3377A>T p.Q1126L missense 0.00001208●●●●●●
1770. 144994552 c.9518C>A p.P3173H missense 0.00001204●●●●●●
1771. 145006165 c.2199G>A p.W733X nonsense 0.00001204●●●●●●
1772. 144997130 c.7048A>C p.T2350P missense 0.00001198●●●●●●
1773. 145002126 c.3376C>G p.Q1126E missense 0.00001194●●●●●●
1774. 144998582 c.5596C>A p.L1866M missense 0.00001193●●●●●●
1775. 145006140 c.2224G>A p.E742K missense 0.00001192●●●●●●
1776. 144994559 c.9511G>A p.V3171M missense 0.00001190●●●●●●
1777. 144998060 c.6118C>G p.R2040G missense 0.00001190●●●●●●
1778. 145008174 c.1336_1341delCTGCAG p.Leu446_Gln447del inframe 0.00001188●●●●●●
1779. 144992386 c.11684_11686delACG p.Asp3895del inframe 0.00001185●●●●●●
1780. 144999704 c.4474G>A p.E1492K missense 0.00001184●●●●●●
1781. 145001720 c.3695T>A p.L1232Q missense 0.00001182●●●●●●
1782. 145012372 c.292C>T p.R98C missense 0.00001179●●●●●●
1783. 145006148 c.2216G>A p.C739Y missense 0.00001176●●●●●●
1784. 145007182 c.1597G>A p.V533M missense 0.00001175●●●●●●
1785. 145012327 c.337G>A p.D113N missense 0.00001175●●●●●●
1786. 144992224 c.11846C>G p.T3949S missense 0.00001174●●●●●●
1787. 144992293 c.11777G>T p.R3926L missense 0.00001171●●●●●●
1788. 144994564 c.9506G>A p.G3169D missense 0.00001167●●●●●●
1789. 144999604 c.4574G>C p.R1525P missense 0.00001166●●●●●●
1790. 144999901 c.4277A>G p.E1426G missense 0.00001164●●●●●●
1791. 144999700 c.4478G>A p.R1493H missense 0.00001162●●●●●●
1792. 144998134 c.6044A>T p.E2015V missense 0.00001162●●●●●●
1793. 144997780 c.6398A>G p.Q2133R missense 0.00001159●●●●●●
1794. 144999898 c.4280_4282delAGG p.Glu1427del inframe 0.00001152●●●●●●
1795. 144998074 c.6104T>C p.L2035P missense 0.00001150●●●●●●
1796. 144998120 c.6058A>G p.S2020G missense 0.00001143●●●●●●
1797. 145003661 c.3083C>T p.T1028M missense 0.00001142●●●●●●
1798. 144998171 c.6007G>A p.A2003T missense 0.00001139●●●●●●
1799. 144997774 c.6404G>A p.R2135Q missense 0.00001138●●●●●●
1800. 144998104 c.6074A>C p.E2025A missense 0.00001138●●●●●●
1801. 144998177 c.6001C>G p.Q2001E missense 0.00001135●●●●●●
1802. 144998099 c.6079G>A p.A2027T missense 0.00001132●●●●●●
1803. 144999608 c.4570G>A p.E1524K missense 0.00001130●●●●●●
1804. 144998083 c.6095A>C p.K2032T missense 0.00001126●●●●●●
1805. 145007176 c.1603C>G p.L535V missense 0.00001116●●●●●●
1806. 144996931 c.7247T>C p.V2416A missense 0.00001114●●●●●●
1807. 145008181 c.1329C>A p.D443E missense 0.00001113●●●●●●
1808. 145008181 c.1329C>G p.D443E missense 0.00001113●●●●●●
1809. 145001708 c.3707T>A p.L1236Q missense 0.00001105●●●●●●
1810. 145008183 c.1327G>A p.D443N missense 0.00001103●●●●●●
1811. 144992300 c.11770C>G p.L3924V missense 0.00001101●●●●●●
1812. 144996451 c.7619A>C p.K2540T missense 0.00001098●●●●●●
1813. 144996192 c.7878G>C p.Q2626H missense 0.00001088●●●●●●
1814. 144999613 c.4565A>C p.E1522A missense 0.00001085●●●●●●
1815. 145006864 c.1835C>T p.A612V missense 0.00001084●●●●●●
1816. 144992303 c.11767G>C p.E3923Q missense 0.00001077●●●●●●
1817. 144998198 c.5980C>A p.L1994M missense 0.00001077●●●●●●
1818. 144998201 c.5977G>T p.E1993X nonsense 0.00001072●●●●●●
1819. 145006291 c.2163+7C>A splice site 0.00001066●●●●●●
1820. 144996455 c.7615G>A p.E2539K missense 0.00001065●●●●●●
1821. 144998551 c.5627A>C p.K1876T missense 0.00001064●●●●●●
1822. 144998477 c.5701G>C p.A1901P missense 0.00001063●●●●●●
1823. 144998477 c.5701G>A p.A1901T missense 0.00001063●●●●●●
1824. 145003428 c.3184G>T p.G1062W missense 0.00001060●●●●●●
1825. 145007162 c.1617G>C p.Q539H missense 0.00001059●●●●●●
1826. 145006292 c.2163+6G>C splice site 0.00001055●●●●●●
1827. 145006856 c.1843G>C p.G615R missense 0.00001054●●●●●●
1828. 144994381 c.9689A>T p.Q3230L missense 0.00001053●●●●●●
1829. 144998209 c.5969A>G p.E1990G missense 0.00001051●●●●●●
1830. 144998494 c.5684G>A p.R1895Q missense 0.00001051●●●●●●
1831. 144998543 c.5635G>C p.A1879P missense 0.00001049●●●●●●
1832. 144998497 c.5681G>A p.R1894Q missense 0.00001048●●●●●●
1833. 144998468 c.5710C>T p.R1904W missense 0.00001048●●●●●●
1834. 144998470 c.5708_5710delAGC p.Gln1903del inframe 0.00001047●●●●●●
1835. 145008196 c.1314G>C p.Q438H missense 0.00001046●●●●●●
1836. 144992309 c.11761A>G p.M3921V missense 0.00001043●●●●●●
1837. 144997150 c.7028T>C p.M2343T missense 0.00001043●●●●●●
1838. 144998507 c.5671G>A p.E1891K missense 0.00001042●●●●●●
1839. 145003452 c.3163-3C>T splice site 0.00001040●●●●●●
1840. 144997151 c.7027A>G p.M2343V missense 0.00001039●●●●●●
1841. 144998221 c.5957_5959delTGC p.Leu1986del inframe 0.00001039●●●●●●
1842. 144996916 c.7262G>A p.R2421Q missense 0.00001038●●●●●●
1843. 144998515 c.5663C>G p.A1888G missense 0.00001037●●●●●●
1844. 144998530 c.5648T>C p.L1883P missense 0.00001037●●●●●●
1845. 144998528 c.5650_5652delAAG p.Lys1884del inframe 0.00001036●●●●●●
1846. 144998522 c.5656_5658delAAG p.Lys1886del inframe 0.00001035●●●●●●
1847. 145008202 c.1308G>C p.E436D missense 0.00001034●●●●●●
1848. 145002138 c.3364A>G p.I1122V missense 0.00001030●●●●●●
1849. 145007157 c.1622G>A p.R541H missense 0.00001021●●●●●●
1850. 144992315 c.11755A>G p.I3919V missense 0.00001019●●●●●●
1851. 145006843 c.1856A>C p.D619A missense 0.00001018●●●●●●
1852. 145008266 c.1251-7G>A splice site 0.00001015●●●●●●
1853. 145006840 c.1859G>A p.C620Y missense 0.00001014●●●●●●
1854. 144994373 c.9697G>A p.G3233R missense 0.00001013●●●●●●
1855. 145008263 c.1251-4G>C splice site 0.00001013●●●●●●
1856. 145008264 c.1251-5T>C splice site 0.00001011●●●●●●
1857. 145003849 c.2969A>G p.H990R missense 0.00001010●●●●●●
1858. 145003871 c.2947C>T p.R983C missense 0.00001010●●●●●●
1859. 144997162 c.7016T>A p.L2339H missense 0.00001008●●●●●●
1860. 145001673 c.3742G>T p.A1248S missense 0.00001008●●●●●●
1861. 145001673 c.3742G>A p.A1248T missense 0.00001008●●●●●●
1862. 145007154 c.1625C>T p.P542L missense 0.00001008●●●●●●
1863. 145008267 c.1251-8_1251-3dupTGCTGC splice site 0.00001008●●●●●●
1864. 145008264 c.1251-5_1251-3dupTGC splice site 0.00001008●●●●●●
1865. 145007155 c.1624C>T p.P542S missense 0.00001007●●●●●●
1866. 145006832 c.1867C>G p.R623G missense 0.00001002●●●●●●
1867. 145006832 c.1867C>T p.R623W missense 0.00001002●●●●●●
1868. 145006297 c.2163+1G>A essential splice site 0.00001002●●●●●●
1869. 145009485 c.684-4C>T splice site 0.00001002●●●●●●
1870. 145003903 c.2915G>A p.G972D missense 0.00001000●●●●●●
1871. 145003858 c.2960C>T p.S987F missense 0.00000998●●●●●●
1872. 145003899 c.2919C>A p.F973L missense 0.00000998●●●●●●
1873. 144994603 c.9467A>G p.Q3156R missense 0.00000997●●●●●●
1874. 145003901 c.2917T>C p.F973L missense 0.00000996●●●●●●
1875. 145006829 c.1870C>G p.L624V missense 0.00000996●●●●●●
1876. 145002146 c.3356G>T p.S1119I missense 0.00000995●●●●●●
1877. 144990528 c.13542_13543insCCCGCACC p.Gly4515ProfsTer31 frameshift 0.00000995●●●●●●
1878. 145001648 c.3767G>T p.R1256L missense 0.00000994●●●●●●
1879. 145002147 c.3355A>T p.S1119C missense 0.00000994●●●●●●
1880. 145003885 c.2933G>C p.R978P missense 0.00000994●●●●●●
1881. 145006298 c.2163G>A splice site 0.00000994●●●●●●
1882. 145008243 c.1267C>T p.R423C missense 0.00000992●●●●●●
1883. 144999677 c.4501G>A p.E1501K missense 0.00000991●●●●●●
1884. 144996172 c.7898G>C p.R2633P missense 0.00000990●●●●●●
1885. 145003916 c.2902C>A p.Q968K missense 0.00000988●●●●●●
1886. 145008224 c.1286A>G p.Q429R missense 0.00000987●●●●●●
1887. 145008240 c.1270A>G p.I424V missense 0.00000987●●●●●●
1888. 144997175 c.7003G>T p.A2335S missense 0.00000986●●●●●●
1889. 145008236 c.1274T>G p.V425G missense 0.00000986●●●●●●
1890. 144997726 c.6452_6463delAGGCACAGGCCC p.Gln2151_Ala2154del inframe 0.00000986●●●●●●
1891. 145003920 c.2898C>G p.D966E missense 0.00000985●●●●●●
1892. 144994609 c.9461G>A p.R3154Q missense 0.00000983●●●●●●
1893. 144997709 c.6469C>T p.Q2157X nonsense 0.00000982●●●●●●
1894. 144998242 c.5936G>A p.R1979H missense 0.00000978●●●●●●
1895. 144998242 c.5936G>T p.R1979L missense 0.00000978●●●●●●
1896. 144997699 c.6479_6480insCCGGGCTCAGGCACAGGC p.Arg2155_Ala2160dup inframe 0.00000977●●●●●●
1897. 144999670 c.4508A>G p.Q1503R missense 0.00000975●●●●●●
1898. 145002164 c.3342-4C>T splice site 0.00000974●●●●●●
1899. 144992735 c.11335C>T p.L3779F missense 0.00000973●●●●●●
1900. 144997682 c.6496C>T p.R2166C missense 0.00000973●●●●●●
1901. 144999662 c.4516C>A p.R1506S missense 0.00000973●●●●●●
1902. 145002167 c.3342-7C>T splice site 0.00000972●●●●●●
1903. 145001627 c.3788T>C p.M1263T missense 0.00000969●●●●●●
1904. 144994361 c.9709C>G p.L3237V missense 0.00000968●●●●●●
1905. 144999659 c.4519G>T p.A1507S missense 0.00000968●●●●●●
1906. 145001624 c.3791C>T p.P1264L missense 0.00000968●●●●●●
1907. 145006303 c.2158G>A p.V720M missense 0.00000967●●●●●●
1908. 145006814 c.1885G>A p.A629T missense 0.00000965●●●●●●
1909. 144998249 c.5929C>G p.R1977G missense 0.00000963●●●●●●
1910. 144996902 c.7276G>A p.A2426T missense 0.00000962●●●●●●
1911. 144999644 c.4534G>A p.A1512T missense 0.00000961●●●●●●
1912. 144999646 c.4532A>G p.E1511G missense 0.00000961●●●●●●
1913. 145001619 c.3796G>C p.A1266P missense 0.00000961●●●●●●
1914. 144990529 c.13541_13542insCGGC p.Ser4516TrpfsTer20 frameshift 0.00000958●●●●●●
1915. 144996157 c.7913A>G p.H2638R missense 0.00000957●●●●●●
1916. 144999625 c.4553A>G p.Q1518R missense 0.00000957●●●●●●
1917. 144997192 c.6986C>T p.A2329V missense 0.00000956●●●●●●
1918. 144997662 c.6516G>C p.E2172D missense 0.00000956●●●●●●
1919. 144992740 c.11330A>G p.K3777R missense 0.00000955●●●●●●
1920. 144998255 c.5923C>G p.L1975V missense 0.00000955●●●●●●
1921. 145006305 c.2156C>T p.T719M missense 0.00000955●●●●●●
1922. 145006810 c.1889A>C p.K630T missense 0.00000955●●●●●●
1923. 144997514 c.6664C>G p.L2222V missense 0.00000954●●●●●●
1924. 144997522 c.6656G>C p.R2219P missense 0.00000954●●●●●●
1925. 144999635 c.4543C>G p.Q1515E missense 0.00000953●●●●●●
1926. 144997550 c.6628C>G p.Q2210E missense 0.00000952●●●●●●
1927. 144997648 c.6530C>T p.A2177V missense 0.00000951●●●●●●
1928. 144993830 c.10240C>T p.L3414F missense 0.00000950●●●●●●
1929. 144994355 c.9715C>G p.L3239V missense 0.00000949●●●●●●
1930. 144996151 c.7919A>G p.E2640G missense 0.00000949●●●●●●
1931. 145003966 c.2852A>C p.Q951P missense 0.00000947●●●●●●
1932. 144997208 c.6970G>T p.A2324S missense 0.00000946●●●●●●
1933. 144996148 c.7922A>G p.E2641G missense 0.00000946●●●●●●
1934. 144997649 c.6529G>A p.A2177T missense 0.00000946●●●●●●
1935. 145003970 c.2848C>T p.R950C missense 0.00000946●●●●●●
1936. 145004097 c.2820+7delC splice site 0.00000946●●●●●●
1937. 144994622 c.9448G>A p.G3150S missense 0.00000944●●●●●●
1938. 144997212 c.6966G>C p.Q2322H missense 0.00000944●●●●●●
1939. 145004100 c.2820+4C>T splice site 0.00000944●●●●●●
1940. 144996143 c.7927A>G p.T2643A missense 0.00000943●●●●●●
1941. 144998424 c.5754C>G p.I1918M missense 0.00000943●●●●●●
1942. 145006803 c.1896G>A splice site 0.00000943●●●●●●
1943. 145001607 c.3808G>A p.A1270T missense 0.00000941●●●●●●
1944. 145001611 c.3804_3807delCCAG p.Ser1268ArgfsTer46 frameshift 0.00000941●●●●●●
1945. 144996139 c.7931C>T p.A2644V missense 0.00000939●●●●●●
1946. 145006964 c.1815_1817dupCGA p.Asp605dup inframe 0.00000939●●●●●●
1947. 145006797 c.1896+6T>A splice site 0.00000938●●●●●●
1948. 144997479 c.6699C>A p.D2233E missense 0.00000937●●●●●●
1949. 145006311 c.2150G>C p.R717P missense 0.00000937●●●●●●
1950. 145006962 c.1817A>G p.E606G missense 0.00000937●●●●●●
1951. 144998417 c.5761C>T p.R1921C missense 0.00000936●●●●●●
1952. 144997478 c.6700G>A p.E2234K missense 0.00000935●●●●●●
1953. 145001604 c.3811G>A p.V1271M missense 0.00000935●●●●●●
1954. 144997225 c.6953C>T p.A2318V missense 0.00000933●●●●●●
1955. 144996890 c.7288G>T p.A2430S missense 0.00000933●●●●●●
1956. 144996890 c.7288G>C p.A2430P missense 0.00000933●●●●●●
1957. 144997476 c.6702G>T p.E2234D missense 0.00000932●●●●●●
1958. 144997577 c.6601G>A p.A2201T missense 0.00000932●●●●●●
1959. 144997578 c.6600C>A p.F2200L missense 0.00000931●●●●●●
1960. 145006312 c.2149C>T p.R717W missense 0.00000931●●●●●●
1961. 144996124 c.7946C>T p.A2649V missense 0.00000929●●●●●●
1962. 144997612 c.6566C>T p.A2189V missense 0.00000929●●●●●●
1963. 144993772 c.10298G>C p.R3433P missense 0.00000929●●●●●●
1964. 144993772 c.10298G>T p.R3433L missense 0.00000929●●●●●●
1965. 144997579 c.6599T>A p.F2200Y missense 0.00000927●●●●●●
1966. 144997613 c.6565G>A p.A2189T missense 0.00000927●●●●●●
1967. 144996887 c.7291C>A p.Q2431K missense 0.00000926●●●●●●
1968. 144994634 c.9436G>T p.A3146S missense 0.00000925●●●●●●
1969. 144996475 c.7595G>A p.R2532Q missense 0.00000925●●●●●●
1970. 144997229 c.6949G>A p.A2317T missense 0.00000925●●●●●●
1971. 144997229 c.6949G>T p.A2317S missense 0.00000925●●●●●●
1972. 144997468 c.6710A>C p.Q2237P missense 0.00000925●●●●●●
1973. 145006669 c.1957A>C p.T653P missense 0.00000925●●●●●●
1974. 144997465 c.6713G>A p.R2238Q missense 0.00000924●●●●●●
1975. 144997588 c.6590A>G p.H2197R missense 0.00000924●●●●●●
1976. 144997605 c.6573C>G p.D2191E missense 0.00000924●●●●●●
1977. 144998281 c.5897C>G p.A1966G missense 0.00000923●●●●●●
1978. 144996476 c.7594C>G p.R2532G missense 0.00000922●●●●●●
1979. 145007133 c.1646T>C p.L549P missense 0.00000922●●●●●●
1980. 144996883 c.7295G>A p.R2432H missense 0.00000921●●●●●●
1981. 144998286 c.5892_5894delGGC p.Ala1966del inframe 0.00000921●●●●●●
1982. 145004135 c.2789T>C p.V930A missense 0.00000920●●●●●●
1983. 145006666 c.1960A>G p.K654E missense 0.00000919●●●●●●
1984. 145006972 c.1807C>T p.R603W missense 0.00000918●●●●●●
1985. 144996115 c.7955C>T p.T2652I missense 0.00000917●●●●●●
1986. 144996878 c.7300C>T p.R2434W missense 0.00000917●●●●●●
1987. 144997235 c.6943C>T p.Q2315X nonsense 0.00000917●●●●●●
1988. 145004141 c.2783G>A p.R928H missense 0.00000917●●●●●●
1989. 145004237 c.2694-7C>T splice site 0.00000917●●●●●●
1990. 144998401 c.5777G>T p.R1926L missense 0.00000916●●●●●●
1991. 144996074 c.7996G>A p.E2666K missense 0.00000915●●●●●●
1992. 144996083 c.7987C>T p.P2663S missense 0.00000915●●●●●●
1993. 144996088 c.7982A>G p.D2661G missense 0.00000915●●●●●●
1994. 144996062 c.8008G>A p.E2670K missense 0.00000913●●●●●●
1995. 144998294 c.5884G>A p.E1962K missense 0.00000913●●●●●●
1996. 144994345 c.9725delA p.Lys3242ArgfsTer37 frameshift 0.00000913●●●●●●
1997. 144996041 c.8029C>T p.R2677W missense 0.00000912●●●●●●
1998. 144996056 c.8014A>G p.S2672G missense 0.00000912●●●●●●
1999. 145006318 c.2143C>G p.P715A missense 0.00000912●●●●●●
2000. 144996037 c.8033G>T p.R2678L missense 0.00000909●●●●●●
2001. 144996034 c.8036A>T p.K2679M missense 0.00000908●●●●●●
2002. 144993760 c.10310A>G p.H3437R missense 0.00000908●●●●●●
2003. 145003682 c.3062T>C p.L1021P missense 0.00000908●●●●●●
2004. 144993863 c.10207C>T p.R3403C missense 0.00000907●●●●●●
2005. 145004150 c.2774G>A p.S925N missense 0.00000907●●●●●●
2006. 145004152 c.2772G>C p.Q924H missense 0.00000906●●●●●●
2007. 145006978 c.1801C>T p.R601W missense 0.00000903●●●●●●
2008. 144998314 c.5864T>G p.L1955R missense 0.00000902●●●●●●
2009. 144998321 c.5857_5859delGAG p.Glu1953del inframe 0.00000901●●●●●●
2010. 144996010 c.8060A>G p.E2687G missense 0.00000900●●●●●●
2011. 144998324 c.5854G>A p.E1952K missense 0.00000900●●●●●●
2012. 144994334 c.9736G>T p.A3246S missense 0.00000898●●●●●●
2013. 144996020 c.8050A>G p.R2684G missense 0.00000897●●●●●●
2014. 144998339 c.5839C>T p.R1947W missense 0.00000897●●●●●●
2015. 144998354 c.5824G>A p.D1942N missense 0.00000897●●●●●●
2016. 144990776 c.13294C>T p.R4432C missense 0.00000896●●●●●●
2017. 144990788 c.13282G>T p.D4428Y missense 0.00000896●●●●●●
2018. 144996861 c.7317G>T p.E2439D missense 0.00000896●●●●●●
2019. 144997260 c.6918G>T p.E2306D missense 0.00000896●●●●●●
2020. 144998351 c.5827A>G p.T1943A missense 0.00000896●●●●●●
2021. 145007119 c.1660G>A p.D554N missense 0.00000894●●●●●●
2022. 144996857 c.7321G>A p.G2441S missense 0.00000894●●●●●●
2023. 144996863 c.7315_7317delGAG p.Glu2439del inframe 0.00000894●●●●●●
2024. 144996859 c.7319T>C p.I2440T missense 0.00000893●●●●●●
2025. 144993874 c.10196A>G p.Y3399C missense 0.00000893●●●●●●
2026. 144997264 c.6914A>G p.E2305G missense 0.00000893●●●●●●
2027. 145004220 c.2704C>T p.Q902X nonsense 0.00000893●●●●●●
2028. 144997448 c.6730_6738delACGGAGGCC p.Thr2244_Ala2246del inframe 0.00000893●●●●●●
2029. 145003686 c.3058C>T p.R1020W missense 0.00000892●●●●●●
2030. 144994661 c.9409A>G p.T3137A missense 0.00000891●●●●●●
2031. 145004175 c.2749A>G p.M917V missense 0.00000891●●●●●●
2032. 145004177 c.2747A>C p.D916A missense 0.00000891●●●●●●
2033. 144990567 c.13503C>G p.Y4501X nonsense 0.00000890●●●●●●
2034. 144990568 c.13502A>C p.Y4501S missense 0.00000889●●●●●●
2035. 144995039 c.9031G>A p.A3011T missense 0.00000888●●●●●●
2036. 144996487 c.7583G>T p.S2528I missense 0.00000888●●●●●●
2037. 144995020 c.9050_9052dupGGG p.Arg3017_Val3018insGly inframe 0.00000888●●●●●●
2038. 144995045 c.9025C>T p.P3009S missense 0.00000886●●●●●●
2039. 144997271 c.6907G>C p.V2303L missense 0.00000885●●●●●●
2040. 145007036 c.1743G>T p.Q581H missense 0.00000885●●●●●●
2041. 144993887 c.10183_10185delAAG p.Lys3395del inframe 0.00000885●●●●●●
2042. 145004190 c.2734C>G p.Q912E missense 0.00000884●●●●●●
2043. 145004194 c.2730G>C p.W910C missense 0.00000884●●●●●●
2044. 145004202 c.2722A>G p.T908A missense 0.00000884●●●●●●
2045. 145007112 c.1667T>C p.L556P missense 0.00000884●●●●●●
2046. 144990583 c.13487A>G p.Q4496R missense 0.00000883●●●●●●
2047. 144993889 c.10181A>G p.E3394G missense 0.00000883●●●●●●
2048. 144993890 c.10180G>C p.E3394Q missense 0.00000882●●●●●●
2049. 144995054 c.9016A>G p.S3006G missense 0.00000882●●●●●●
2050. 144997277 c.6901A>G p.K2301E missense 0.00000882●●●●●●
2051. 144997277 c.6901_6902insCGC p.Lys2301delinsThrGln inframe 0.00000882●●●●●●
2052. 144995984 c.8086C>A p.L2696M missense 0.00000881●●●●●●
2053. 145006401 c.2060C>T p.A687V missense 0.00000881●●●●●●
2054. 145007058 c.1721A>T p.D574V missense 0.00000881●●●●●●
2055. 144997282 c.6896_6898delAGA p.Lys2299del inframe 0.00000881●●●●●●
2056. 145006400 c.2061G>A splice site 0.00000881●●●●●●
2057. 145006409 c.2059-7G>T splice site 0.00000881●●●●●●
2058. 145006353 c.2108A>G p.Q703R missense 0.00000880●●●●●●
2059. 145006398 c.2063T>A p.L688Q missense 0.00000880●●●●●●
2060. 145007002 c.1777G>A p.E593K missense 0.00000880●●●●●●
2061. 145007062 c.1717G>T p.V573L missense 0.00000880●●●●●●
2062. 144996841 c.7337G>A p.R2446H missense 0.00000879●●●●●●
2063. 144996841 c.7337G>T p.R2446L missense 0.00000879●●●●●●
2064. 144997286 c.6892G>A p.E2298K missense 0.00000879●●●●●●
2065. 145006357 c.2104C>T p.L702F missense 0.00000879●●●●●●
2066. 144994681 c.9389C>T p.T3130I missense 0.00000877●●●●●●
2067. 144994981 c.9089G>A p.G3030D missense 0.00000877●●●●●●
2068. 144994982 c.9088G>T p.G3030C missense 0.00000877●●●●●●
2069. 145006366 c.2095A>T p.I699F missense 0.00000877●●●●●●
2070. 144992152 c.11918G>A p.R3973Q missense 0.00000876●●●●●●
2071. 144993904 c.10166T>C p.L3389P missense 0.00000876●●●●●●
2072. 144993907 c.10163A>T p.Y3388F missense 0.00000876●●●●●●
2073. 144994784 c.9286G>A p.D3096N missense 0.00000876●●●●●●
2074. 144994790 c.9280A>G p.I3094V missense 0.00000876●●●●●●
2075. 144994819 c.9251T>C p.L3084P missense 0.00000876●●●●●●
2076. 144997294 c.6884A>G p.E2295G missense 0.00000876●●●●●●
2077. 144994841 c.9229C>T p.P3077S missense 0.00000875●●●●●●
2078. 144993909 c.10161C>G p.I3387M missense 0.00000875●●●●●●
2079. 144993910 c.10160T>C p.I3387T missense 0.00000875●●●●●●
2080. 144993911 c.10159A>G p.I3387V missense 0.00000875●●●●●●
2081. 144994772 c.9298A>G p.S3100G missense 0.00000875●●●●●●
2082. 144994831 c.9239T>C p.M3080T missense 0.00000875●●●●●●
2083. 144994832 c.9238A>G p.M3080V missense 0.00000875●●●●●●
2084. 144996513 c.7557G>C p.Q2519H missense 0.00000875●●●●●●
2085. 144996532 c.7538A>G p.Q2513R missense 0.00000875●●●●●●
2086. 144997421 c.6757G>A p.V2253M missense 0.00000875●●●●●●
2087. 144997421 c.6757G>C p.V2253L missense 0.00000875●●●●●●
2088. 145007373 c.1491G>A p.M497I missense 0.00000875●●●●●●
2089. 144993914 c.10156G>A p.G3386S missense 0.00000874●●●●●●
2090. 144994886 c.9184G>A p.G3062R missense 0.00000874●●●●●●
2091. 144995068 c.9002T>C p.F3001S missense 0.00000874●●●●●●
2092. 144995966 c.8104G>A p.G2702S missense 0.00000874●●●●●●
2093. 144996503 c.7567C>T p.L2523F missense 0.00000874●●●●●●
2094. 144997301 c.6877C>G p.L2293V missense 0.00000874●●●●●●
2095. 144994936 c.9134G>A p.R3045Q missense 0.00000873●●●●●●
2096. 144990601 c.13469T>C p.L4490P missense 0.00000873●●●●●●
2097. 144990604 c.13466G>C p.R4489P missense 0.00000873●●●●●●
2098. 144994694 c.9376G>T p.E3126X nonsense 0.00000873●●●●●●
2099. 144994901 c.9169T>C p.W3057R missense 0.00000873●●●●●●
2100. 144994904 c.9166G>T p.V3056L missense 0.00000873●●●●●●
2101. 144994904 c.9166G>A p.V3056I missense 0.00000873●●●●●●
2102. 144994913 c.9157A>G p.I3053V missense 0.00000873●●●●●●
2103. 144994918 c.9152A>T p.N3051I missense 0.00000873●●●●●●
2104. 144994922 c.9148G>A p.A3050T missense 0.00000873●●●●●●
2105. 144994927 c.9143G>T p.R3048L missense 0.00000873●●●●●●
2106. 144994928 c.9142C>T p.R3048W missense 0.00000873●●●●●●
2107. 144994933 c.9137C>G p.A3046G missense 0.00000873●●●●●●
2108. 144994939 c.9131G>A p.R3044Q missense 0.00000873●●●●●●
2109. 144995071 c.8999G>A p.C3000Y missense 0.00000873●●●●●●
2110. 144996507 c.7563C>A p.S2521R missense 0.00000873●●●●●●
2111. 144994942 c.9128_9129delTG p.Val3043AlafsTer77 frameshift 0.00000873●●●●●●
2112. 144990833 c.13237C>T p.R4413C missense 0.00000872●●●●●●
2113. 144990605 c.13465C>G p.R4489G missense 0.00000872●●●●●●
2114. 144990734 c.13336G>C p.A4446P missense 0.00000872●●●●●●
2115. 144993728 c.10342G>A p.E3448K missense 0.00000872●●●●●●
2116. 144996544 c.7526A>C p.E2509A missense 0.00000872●●●●●●
2117. 144997415 c.6763G>A p.E2255K missense 0.00000871●●●●●●
2118. 145009103 c.907-6C>T splice site 0.00000871●●●●●●
2119. 144994741 c.9329G>T p.R3110L missense 0.00000870●●●●●●
2120. 144992846 c.11224C>G p.L3742V missense 0.00000870●●●●●●
2121. 144990730 c.13340G>A p.R4447H missense 0.00000870●●●●●●
2122. 144994742 c.9328C>A p.R3110S missense 0.00000870●●●●●●
2123. 144994748 c.9322G>A p.A3108T missense 0.00000870●●●●●●
2124. 144995962 c.8108A>T p.H2703L missense 0.00000870●●●●●●
2125. 145007381 c.1483G>A p.E495K missense 0.00000870●●●●●●
2126. 144994721 c.9349G>A p.E3117K missense 0.00000869●●●●●●
2127. 144990728 c.13342A>C p.T4448P missense 0.00000869●●●●●●
2128. 144997316 c.6862A>G p.N2288D missense 0.00000869●●●●●●
2129. 144997318 c.6860A>G p.D2287G missense 0.00000869●●●●●●
2130. 145009037 c.967C>T p.R323X nonsense 0.00000869●●●●●●
2131. 144990724 c.13346C>T p.A4449V missense 0.00000868●●●●●●
2132. 144990616 c.13454G>T p.G4485V missense 0.00000867●●●●●●
2133. 144997328 c.6850C>A p.R2284S missense 0.00000867●●●●●●
2134. 144997404 c.6774C>A p.F2258L missense 0.00000867●●●●●●
2135. 144997331 c.6847T>A p.L2283M missense 0.00000866●●●●●●
2136. 145009028 c.976A>T p.T326S missense 0.00000866●●●●●●
2137. 145009043 c.961T>C p.W321R missense 0.00000866●●●●●●
2138. 145009045 c.959A>G p.Q320R missense 0.00000866●●●●●●
2139. 144990626 c.13444G>C p.V4482L missense 0.00000865●●●●●●
2140. 144992143 c.11927T>C p.V3976A missense 0.00000865●●●●●●
2141. 145010022 c.677G>A p.R226Q missense 0.00000865●●●●●●
2142. 144997386 c.6792G>A p.M2264I missense 0.00000864●●●●●●
2143. 144990712 c.13358G>A p.R4453H missense 0.00000864●●●●●●
2144. 144996823 c.7355A>G p.Q2452R missense 0.00000864●●●●●●
2145. 144997382 c.6796G>A p.E2266K missense 0.00000864●●●●●●
2146. 144997388 c.6790A>G p.M2264V missense 0.00000864●●●●●●
2147. 144995090 c.8980_8985delGAGCAG p.Glu2994_Gln2995del inframe 0.00000864●●●●●●
2148. 144990706 c.13364T>C p.V4455A missense 0.00000863●●●●●●
2149. 144990704 c.13366G>A p.G4456S missense 0.00000863●●●●●●
2150. 144992890 c.11180C>T p.S3727F missense 0.00000863●●●●●●
2151. 144995086 c.8984A>G p.Q2995R missense 0.00000863●●●●●●
2152. 145009014 c.990G>T p.E330D missense 0.00000863●●●●●●
2153. 144993952 c.10118C>T p.S3373F missense 0.00000862●●●●●●
2154. 144990701 c.13369G>A p.A4457T missense 0.00000862●●●●●●
2155. 144992900 c.11170C>G p.L3724V missense 0.00000862●●●●●●
2156. 144992906 c.11164G>C p.V3722L missense 0.00000862●●●●●●
2157. 144993950 c.10120G>T p.V3374L missense 0.00000862●●●●●●
2158. 144992901 c.11169_11170insTAC p.Tyr3723dup inframe 0.00000862●●●●●●
2159. 144990644 c.13426G>A p.A4476T missense 0.00000861●●●●●●
2160. 144990645 c.13425C>A p.D4475E missense 0.00000861●●●●●●
2161. 144994300 c.9770C>G p.A3257G missense 0.00000861●●●●●●
2162. 144994301 c.9769G>T p.A3257S missense 0.00000861●●●●●●
2163. 144995939 c.8131C>G p.R2711G missense 0.00000861●●●●●●
2164. 144990659 c.13411A>G p.I4471V missense 0.00000860●●●●●●
2165. 144990665 c.13405C>T p.L4469F missense 0.00000860●●●●●●
2166. 144990670 c.13400C>G p.T4467S missense 0.00000860●●●●●●
2167. 144990676 c.13394C>T p.P4465L missense 0.00000860●●●●●●
2168. 145009005 c.999G>C p.R333S missense 0.00000860●●●●●●
2169. 144993968 c.10102C>A p.L3368I missense 0.00000859●●●●●●
2170. 144994297 c.9773G>C p.R3258P missense 0.00000859●●●●●●
2171. 145003733 c.3011A>G p.Q1004R missense 0.00000859●●●●●●
2172. 145003739 c.3005G>A p.G1002D missense 0.00000859●●●●●●
2173. 145003744 c.3005-5C>T splice site 0.00000859●●●●●●
2174. 144992933 c.11137C>G p.L3713V missense 0.00000858●●●●●●
2175. 144995933 c.8137G>A p.E2713K missense 0.00000858●●●●●●
2176. 145007393 c.1471C>T p.H491Y missense 0.00000858●●●●●●
2177. 145010034 c.665C>T p.A222V missense 0.00000858●●●●●●
2178. 144993980 c.10090delA p.Thr3364ArgfsTer44 frameshift 0.00000857●●●●●●
2179. 145008620 c.1123-7T>C splice site 0.00000857●●●●●●
2180. 144992134 c.11936C>A p.A3979D missense 0.00000856●●●●●●
2181. 144995102 c.8968G>A p.V2990M missense 0.00000856●●●●●●
2182. 145007395 c.1469G>A p.R490Q missense 0.00000856●●●●●●
2183. 144990863 c.13207A>G p.K4403E missense 0.00000855●●●●●●
2184. 144995923 c.8147G>A p.R2716H missense 0.00000855●●●●●●
2185. 145006678 c.1948G>A p.A650T missense 0.00000855●●●●●●
2186. 145006684 c.1942T>C p.F648L missense 0.00000855●●●●●●
2187. 145006688 c.1938C>A p.H646Q missense 0.00000855●●●●●●
2188. 145010040 c.659T>A p.F220Y missense 0.00000855●●●●●●
2189. 145008616 c.1123-3C>T splice site 0.00000855●●●●●●
2190. 0 c.-6-8C>T splice site 0.00000855●●●●●●
2191. 144995788 c.8282C>A p.A2761E missense 0.00000854●●●●●●
2192. 145011421 c.346-11C>T splice site 0.00000854●●●●●●
2193. 144996802 c.7376A>G p.Q2459R missense 0.00000854●●●●●●
2194. 144992127 c.11943G>C p.K3981N missense 0.00000853●●●●●●
2195. 144991061 c.13009C>T p.R4337W missense 0.00000853●●●●●●
2196. 144994001 c.10069C>G p.Q3357E missense 0.00000853●●●●●●
2197. 145006713 c.1913G>A p.R638H missense 0.00000853●●●●●●
2198. 145006717 c.1909G>T p.A637S missense 0.00000853●●●●●●
2199. 145007398 c.1466G>A p.G489E missense 0.00000853●●●●●●
2200. 145006723 c.1903_1905delTCC p.Ser635del inframe 0.00000853●●●●●●
2201. 144992973 c.11097C>G p.S3699R missense 0.00000852●●●●●●
2202. 144991088 c.12982A>G p.N4328D missense 0.00000852●●●●●●
2203. 144991091 c.12979C>T p.R4327W missense 0.00000852●●●●●●
2204. 144991109 c.12961A>G p.I4321V missense 0.00000852●●●●●●
2205. 144994007 c.10063T>G p.F3355V missense 0.00000852●●●●●●
2206. 144995915 c.8155C>G p.L2719V missense 0.00000852●●●●●●
2207. 144996797 c.7381C>G p.L2461V missense 0.00000852●●●●●●
2208. 145006664 c.1962G>C p.K654N missense 0.00000852●●●●●●
2209. 145009438 c.727C>G p.L243V missense 0.00000852●●●●●●
2210. 144991225 c.12845_12847delCCT p.Ser4282del inframe 0.00000852●●●●●●
2211. 145049344 c.193+1G>A essential splice site 0.00000852●●●●●●
2212. 144991042 c.13028C>T p.A4343V missense 0.00000851●●●●●●
2213. 144991198 c.12872G>C p.R4291T missense 0.00000851●●●●●●
2214. 144994025 c.10045G>T p.V3349F missense 0.00000851●●●●●●
2215. 145008598 c.1138G>A p.G380S missense 0.00000851●●●●●●
2216. 145049353 c.185G>A p.R62H missense 0.00000851●●●●●●
2217. 144991179 c.12891G>C p.W4297C missense 0.00000850●●●●●●
2218. 144991179 c.12891G>T p.W4297C missense 0.00000850●●●●●●
2219. 144991181 c.12889T>G p.W4297G missense 0.00000850●●●●●●
2220. 144991186 c.12884C>T p.A4295V missense 0.00000850●●●●●●
2221. 144995110 c.8960T>C p.I2987T missense 0.00000850●●●●●●
2222. 144995905 c.8165G>A p.R2722H missense 0.00000850●●●●●●
2223. 144996784 c.7394G>A p.R2465Q missense 0.00000850●●●●●●
2224. 144996788 c.7390C>T p.Q2464X nonsense 0.00000850●●●●●●
2225. 145010059 c.640T>C p.W214R missense 0.00000850●●●●●●
2226. 145001255 c.3922-6C>T splice site 0.00000850●●●●●●
2227. 145009426 c.739G>T p.D247Y missense 0.00000849●●●●●●
2228. 145009176 c.906+3G>C splice site 0.00000849●●●●●●
2229. 144992119 c.11951T>G p.I3984S missense 0.00000849●●●●●●
2230. 144992120 c.11950A>G p.I3984V missense 0.00000849●●●●●●
2231. 144992987 c.11083G>A p.E3695K missense 0.00000849●●●●●●
2232. 144994268 c.9802G>A p.V3268I missense 0.00000849●●●●●●
2233. 145011417 c.346-7C>T splice site 0.00000849●●●●●●
2234. 144992990 c.11080C>G p.R3694G missense 0.00000848●●●●●●
2235. 145006569 c.2057C>T p.S686L missense 0.00000848●●●●●●
2236. 145010067 c.632C>T p.T211I missense 0.00000848●●●●●●
2237. 144991223 c.12847T>C p.Y4283H missense 0.00000848●●●●●●
2238. 144995894 c.8176G>T p.A2726S missense 0.00000848●●●●●●
2239. 145006627 c.1999G>C p.V667L missense 0.00000848●●●●●●
2240. 145006636 c.1990G>A p.E664K missense 0.00000848●●●●●●
2241. 145006639 c.1987G>A p.E663K missense 0.00000848●●●●●●
2242. 145006640 c.1986G>C p.K662N missense 0.00000848●●●●●●
2243. 145006641 c.1985A>G p.K662R missense 0.00000848●●●●●●
2244. 145006645 c.1981G>A p.E661K missense 0.00000848●●●●●●
2245. 145006655 c.1971G>A p.M657I missense 0.00000848●●●●●●
2246. 145007408 c.1456C>T p.L486F missense 0.00000848●●●●●●
2247. 145009429 c.736C>G p.L246V missense 0.00000848●●●●●●
2248. 145006567 c.2058+1G>C essential splice site 0.00000848●●●●●●
2249. 144996665 c.7506+7C>T splice site 0.00000848●●●●●●
2250. 144996666 c.7506+6G>A splice site 0.00000848●●●●●●
2251. 145006568 c.2058G>A splice site 0.00000848●●●●●●
2252. 145006568 c.2058G>T splice site 0.00000848●●●●●●
2253. 145011419 c.346-9_346-6delTCCC splice site 0.00000848●●●●●●
2254. 144994061 c.10009G>T p.A3337S missense 0.00000847●●●●●●
2255. 144994048 c.10022C>T p.A3341V missense 0.00000847●●●●●●
2256. 144996761 c.7417G>C p.E2473Q missense 0.00000847●●●●●●
2257. 144996767 c.7411G>T p.D2471Y missense 0.00000847●●●●●●
2258. 145006618 c.2008G>C p.D670H missense 0.00000847●●●●●●
2259. 144996752 c.7426C>T p.R2476W missense 0.00000847●●●●●●
2260. 144991034 c.13036G>A p.G4346R missense 0.00000847●●●●●●
2261. 144991225 c.12845C>T p.S4282F missense 0.00000847●●●●●●
2262. 144993694 c.10376C>T p.A3459V missense 0.00000847●●●●●●
2263. 144994058 c.10012C>T p.P3338S missense 0.00000847●●●●●●
2264. 144994261 c.9809T>G p.V3270G missense 0.00000847●●●●●●
2265. 144995119 c.8951A>G p.K2984R missense 0.00000847●●●●●●
2266. 144995120 c.8950A>G p.K2984E missense 0.00000847●●●●●●
2267. 144995893 c.8177C>T p.A2726V missense 0.00000847●●●●●●
2268. 145006588 c.2038G>T p.A680S missense 0.00000847●●●●●●
2269. 145006596 c.2030A>G p.N677S missense 0.00000847●●●●●●
2270. 145006605 c.2021G>A p.R674H missense 0.00000847●●●●●●
2271. 145006605 c.2021G>T p.R674L missense 0.00000847●●●●●●
2272. 145006606 c.2020C>G p.R674G missense 0.00000847●●●●●●
2273. 145007410 c.1454C>A p.T485N missense 0.00000847●●●●●●
2274. 145010076 c.623A>G p.D208G missense 0.00000847●●●●●●
2275. 145006626 c.2000_2002dupTGG p.Val667dup inframe 0.00000847●●●●●●
2276. 145008483 c.1250+3G>T splice site 0.00000847●●●●●●
2277. 144992996 c.11074C>G p.L3692V missense 0.00000846●●●●●●
2278. 144992998 c.11072A>G p.N3691S missense 0.00000846●●●●●●
2279. 144995786 c.8284G>A p.A2762T missense 0.00000846●●●●●●
2280. 144996740 c.7438G>A p.A2480T missense 0.00000846●●●●●●
2281. 145001248 c.3923A>G p.D1308G missense 0.00000846●●●●●●
2282. 144996748 c.7430delA p.Glu2477GlyfsTer215 frameshift 0.00000846●●●●●●
2283. 145001247 c.3924C>T splice site 0.00000846●●●●●●
2284. 145008502 c.1234C>T p.R412C missense 0.00000845●●●●●●
2285. 144990892 c.13178C>A p.T4393N missense 0.00000845●●●●●●
2286. 144991234 c.12836C>T p.S4279F missense 0.00000845●●●●●●
2287. 144993232 c.10838C>T p.S3613F missense 0.00000845●●●●●●
2288. 144996674 c.7504G>A p.E2502K missense 0.00000845●●●●●●
2289. 144996739 c.7439C>G p.A2480G missense 0.00000845●●●●●●
2290. 145001240 c.3931C>T p.L1311F missense 0.00000845●●●●●●
2291. 145001243 c.3928G>C p.E1310Q missense 0.00000845●●●●●●
2292. 145007417 c.1447G>C p.V483L missense 0.00000845●●●●●●
2293. 145008499 c.1237A>G p.S413G missense 0.00000845●●●●●●
2294. 145010082 c.617G>C p.R206P missense 0.00000845●●●●●●
2295. 145011407 c.349C>T p.R117W missense 0.00000845●●●●●●
2296. 145049534 c.4T>G p.S2A missense 0.00000845●●●●●●
2297. 145008503 c.1233_1234insTGGAGCGGGAGAAGCAGCTC p.Arg412TrpfsTer21 frameshift 0.00000845●●●●●●
2298. 145011407 c.349_350insC p.Arg117ProfsTer34 frameshift 0.00000845●●●●●●
2299. 145001508 c.3838-5C>T splice site 0.00000845●●●●●●
2300. 144995876 c.8194G>A p.A2732T missense 0.00000844●●●●●●
2301. 145049533 c.5C>T p.S2L missense 0.00000844●●●●●●
2302. 144990899 c.13171A>G p.T4391A missense 0.00000844●●●●●●
2303. 144993227 c.10843T>C p.W3615R missense 0.00000844●●●●●●
2304. 144993689 c.10381A>T p.T3461S missense 0.00000844●●●●●●
2305. 144995132 c.8938G>C p.E2980Q missense 0.00000844●●●●●●
2306. 144995873 c.8197A>G p.T2733A missense 0.00000844●●●●●●
2307. 144995875 c.8195C>G p.A2732G missense 0.00000844●●●●●●
2308. 145001500 c.3841C>A p.L1281M missense 0.00000844●●●●●●
2309. 145008517 c.1219C>T p.R407W missense 0.00000844●●●●●●
2310. 145008520 c.1216G>A p.E406K missense 0.00000844●●●●●●
2311. 145008529 c.1207G>A p.A403T missense 0.00000844●●●●●●
2312. 145008543 c.1193G>A p.G398D missense 0.00000844●●●●●●
2313. 145049407 c.131G>A p.G44D missense 0.00000844●●●●●●
2314. 145049408 c.130G>A p.G44S missense 0.00000844●●●●●●
2315. 145049410 c.128G>C p.G43A missense 0.00000844●●●●●●
2316. 145049413 c.125G>A p.S42N missense 0.00000844●●●●●●
2317. 145049417 c.121C>T p.R41C missense 0.00000844●●●●●●
2318. 145049452 c.86T>A p.L29Q missense 0.00000844●●●●●●
2319. 145049531 c.7G>A p.G3S missense 0.00000844●●●●●●
2320. 144995835 c.8235delG p.Arg2745SerfsTer4 frameshift 0.00000844●●●●●●
2321. 145001231 c.3940G>C p.V1314L missense 0.00000843●●●●●●
2322. 144993209 c.10861G>A p.D3621N missense 0.00000843●●●●●●
2323. 144990901 c.13169G>A p.R4390H missense 0.00000843●●●●●●
2324. 144991243 c.12827C>T p.S4276L missense 0.00000843●●●●●●
2325. 144993017 c.11053A>G p.I3685V missense 0.00000843●●●●●●
2326. 144993275 c.10795A>G p.I3599V missense 0.00000843●●●●●●
2327. 144995743 c.8327C>G p.T2776S missense 0.00000843●●●●●●
2328. 144995756 c.8314A>G p.N2772D missense 0.00000843●●●●●●
2329. 144995846 c.8224G>A p.A2742T missense 0.00000843●●●●●●
2330. 144995866 c.8204A>G p.E2735G missense 0.00000843●●●●●●
2331. 144996685 c.7493T>A p.L2498H missense 0.00000843●●●●●●
2332. 144996688 c.7490A>G p.Q2497R missense 0.00000843●●●●●●
2333. 145008550 c.1186G>A p.E396K missense 0.00000843●●●●●●
2334. 145009197 c.888G>C p.Q296H missense 0.00000843●●●●●●
2335. 145009199 c.886C>G p.Q296E missense 0.00000843●●●●●●
2336. 145009401 c.764G>A p.R255Q missense 0.00000843●●●●●●
2337. 145009407 c.758C>T p.A253V missense 0.00000843●●●●●●
2338. 145009413 c.752C>G p.S251C missense 0.00000843●●●●●●
2339. 145009413 c.752C>T p.S251F missense 0.00000843●●●●●●
2340. 145049425 c.113G>A p.R38Q missense 0.00000843●●●●●●
2341. 145001491 c.3850_3852delGAG p.Glu1284del inframe 0.00000843●●●●●●
2342. 145008553 c.1183_1185delAAG p.Lys395del inframe 0.00000843●●●●●●
2343. 145049462 c.76_80delGGGGA p.Gly26HisfsTer30 frameshift 0.00000843●●●●●●
2344. 144991018 c.13052C>A p.P4351H missense 0.00000842●●●●●●
2345. 144991250 c.12820T>A p.S4274T missense 0.00000842●●●●●●
2346. 144991253 c.12817C>T p.R4273C missense 0.00000842●●●●●●
2347. 144993034 c.11036T>C p.L3679P missense 0.00000842●●●●●●
2348. 144993188 c.10882C>G p.R3628G missense 0.00000842●●●●●●
2349. 144995141 c.8929A>G p.I2977V missense 0.00000842●●●●●●
2350. 144995143 c.8927G>A p.R2976Q missense 0.00000842●●●●●●
2351. 144996701 c.7477G>A p.A2493T missense 0.00000842●●●●●●
2352. 144996704 c.7474G>A p.E2492K missense 0.00000842●●●●●●
2353. 144996709 c.7469A>C p.Q2490P missense 0.00000842●●●●●●
2354. 144996713 c.7465C>G p.L2489V missense 0.00000842●●●●●●
2355. 145001219 c.3952G>A p.A1318T missense 0.00000842●●●●●●
2356. 145001439 c.3902A>T p.Q1301L missense 0.00000842●●●●●●
2357. 145001452 c.3889A>T p.R1297W missense 0.00000842●●●●●●
2358. 145009386 c.779C>T p.T260M missense 0.00000842●●●●●●
2359. 145049450 c.88C>T p.P30S missense 0.00000842●●●●●●
2360. 145049464 c.74C>T p.P25L missense 0.00000842●●●●●●
2361. 144995738 c.8332_8334delAAC p.Asn2778del inframe 0.00000842●●●●●●
2362. 145049466 c.72_73insAAG p.Ser24_Pro25insLys inframe 0.00000842●●●●●●
2363. 145001430 c.3911A>G p.N1304S missense 0.00000841●●●●●●
2364. 144990911 c.13159G>A p.E4387K missense 0.00000841●●●●●●
2365. 144993039 c.11031G>T p.E3677D missense 0.00000841●●●●●●
2366. 144993074 c.10996T>G p.S3666A missense 0.00000841●●●●●●
2367. 144993076 c.10994C>T p.A3665V missense 0.00000841●●●●●●
2368. 144993184 c.10886C>T p.A3629V missense 0.00000841●●●●●●
2369. 144993287 c.10783G>C p.E3595Q missense 0.00000841●●●●●●
2370. 145001422 c.3919A>G p.K1307E missense 0.00000841●●●●●●
2371. 145001427 c.3914C>G p.A1305G missense 0.00000841●●●●●●
2372. 145001427 c.3914C>A p.A1305D missense 0.00000841●●●●●●
2373. 145009210 c.875T>C p.V292A missense 0.00000841●●●●●●
2374. 145010104 c.595G>C p.V199L missense 0.00000841●●●●●●
2375. 145010109 c.590G>A p.R197Q missense 0.00000841●●●●●●
2376. 144995675 c.8395C>T p.R2799C missense 0.00000840●●●●●●
2377. 144990917 c.13153G>A p.G4385S missense 0.00000840●●●●●●
2378. 144993117 c.10953G>T p.E3651D missense 0.00000840●●●●●●
2379. 144993120 c.10950C>G p.I3650M missense 0.00000840●●●●●●
2380. 144993130 c.10940T>C p.I3647T missense 0.00000840●●●●●●
2381. 144993154 c.10916G>T p.R3639L missense 0.00000840●●●●●●
2382. 144994232 c.9838G>C p.V3280L missense 0.00000840●●●●●●
2383. 144995149 c.8921C>T p.T2974M missense 0.00000840●●●●●●
2384. 144995687 c.8383C>G p.L2795V missense 0.00000840●●●●●●
2385. 144995701 c.8369T>A p.L2790Q missense 0.00000840●●●●●●
2386. 144995717 c.8353G>A p.V2785M missense 0.00000840●●●●●●
2387. 145001201 c.3970G>A p.A1324T missense 0.00000840●●●●●●
2388. 145009214 c.871C>T p.R291C missense 0.00000840●●●●●●
2389. 145011343 c.413G>A p.R138Q missense 0.00000840●●●●●●
2390. 145049510 c.28G>A p.A10T missense 0.00000840●●●●●●
2391. 145011337 c.419_421delGCC p.Arg140del inframe 0.00000840●●●●●●
2392. 145011140 c.516+7C>G splice site 0.00000840●●●●●●
2393. 144990999 c.13071C>G p.F4357L missense 0.00000839●●●●●●
2394. 144993665 c.10405G>A p.G3469S missense 0.00000839●●●●●●
2395. 144994091 c.9979C>G p.Q3327E missense 0.00000839●●●●●●
2396. 144995566 c.8504C>G p.A2835G missense 0.00000839●●●●●●
2397. 145001167 c.4004G>C p.G1335A missense 0.00000839●●●●●●
2398. 145001174 c.3997C>T p.Gln1333Ter nonsense 0.00000839●●●●●●
2399. 144991292 c.12778G>A p.A4260T missense 0.00000839●●●●●●
2400. 144993664 c.10406G>A p.G3469D missense 0.00000839●●●●●●
2401. 144994181 c.9889C>A p.L3297M missense 0.00000839●●●●●●
2402. 144995546 c.8524G>T p.V2842F missense 0.00000839●●●●●●
2403. 144995549 c.8521G>A p.G2841S missense 0.00000839●●●●●●
2404. 144995650 c.8420C>T p.P2807L missense 0.00000839●●●●●●
2405. 145001194 c.3977C>A p.P1326Q missense 0.00000839●●●●●●
2406. 145001197 c.3974C>T p.S1325F missense 0.00000839●●●●●●
2407. 145007441 c.1423A>G p.M475V missense 0.00000839●●●●●●
2408. 145010129 c.570G>C p.K190N missense 0.00000839●●●●●●
2409. 145011359 c.397G>T p.A133S missense 0.00000839●●●●●●
2410. 145049498 c.40G>A p.D14N missense 0.00000839●●●●●●
2411. 144995661 c.8409delC p.Tyr2804ThrfsTer63 frameshift 0.00000839●●●●●●
2412. 145001143 c.4026+2T>C essential splice site 0.00000839●●●●●●
2413. 145011376 c.380delT p.Leu127ArgfsTer16 frameshift 0.00000839●●●●●●
2414. 145001137 c.4026+8G>A splice site 0.00000839●●●●●●
2415. 145009292 c.800-7C>T splice site 0.00000839●●●●●●
2416. 145011143 c.516+4G>A splice site 0.00000839●●●●●●
2417. 144990934 c.13136C>T p.A4379V missense 0.00000838●●●●●●
2418. 145007482 c.1382G>C p.R461P missense 0.00000838●●●●●●
2419. 145007498 c.1366G>A p.G456S missense 0.00000838●●●●●●
2420. 144993581 c.10489G>A p.A3497T missense 0.00000838●●●●●●
2421. 145007464 c.1400G>A p.R467Q missense 0.00000838●●●●●●
2422. 144990926 c.13144G>A p.A4382T missense 0.00000838●●●●●●
2423. 144991295 c.12775T>C p.F4259L missense 0.00000838●●●●●●
2424. 144991301 c.12769A>G p.T4257A missense 0.00000838●●●●●●
2425. 144992099 c.11971T>C p.F3991L missense 0.00000838●●●●●●
2426. 144992101 c.11969C>T p.A3990V missense 0.00000838●●●●●●
2427. 144993611 c.10459C>T p.H3487Y missense 0.00000838●●●●●●
2428. 144993652 c.10418C>T p.S3473F missense 0.00000838●●●●●●
2429. 144993653 c.10417T>A p.S3473T missense 0.00000838●●●●●●
2430. 144993653 c.10417T>C p.S3473P missense 0.00000838●●●●●●
2431. 144994219 c.9851T>C p.I3284T missense 0.00000838●●●●●●
2432. 144995641 c.8429G>A p.G2810D missense 0.00000838●●●●●●
2433. 145007459 c.1405T>G p.L469V missense 0.00000838●●●●●●
2434. 145007479 c.1385C>G p.A462G missense 0.00000838●●●●●●
2435. 145009234 c.851C>T p.S284L missense 0.00000838●●●●●●
2436. 145009237 c.848C>T p.S283L missense 0.00000838●●●●●●
2437. 145009253 c.832A>G p.I278V missense 0.00000838●●●●●●
2438. 145009274 c.811C>T p.P271S missense 0.00000838●●●●●●
2439. 145049476 c.62G>C p.G21A missense 0.00000838●●●●●●
2440. 145049479 c.59G>A p.S20N missense 0.00000838●●●●●●
2441. 145007522 c.1345-3C>T splice site 0.00000838●●●●●●
2442. 145011244 c.424-5C>G splice site 0.00000838●●●●●●
2443. 145011246 c.424-7C>T splice site 0.00000838●●●●●●
2444. 144992065 c.12005A>G p.Y4002C missense 0.00000837●●●●●●
2445. 144995522 c.8548C>T p.R2850C missense 0.00000837●●●●●●
2446. 144995614 c.8456T>C p.M2819T missense 0.00000837●●●●●●
2447. 144995594 c.8476C>T p.R2826W missense 0.00000837●●●●●●
2448. 144990940 c.13130A>T p.N4377I missense 0.00000837●●●●●●
2449. 144990940 c.13130A>G p.N4377S missense 0.00000837●●●●●●
2450. 144990943 c.13127T>A p.I4376N missense 0.00000837●●●●●●
2451. 144990947 c.13123C>T p.R4375C missense 0.00000837●●●●●●
2452. 144990963 c.13107C>G p.D4369E missense 0.00000837●●●●●●
2453. 144991316 c.12754G>A p.G4252S missense 0.00000837●●●●●●
2454. 144992071 c.11999C>T p.T4000I missense 0.00000837●●●●●●
2455. 144993314 c.10756A>G p.T3586A missense 0.00000837●●●●●●
2456. 144993629 c.10441G>A p.G3481S missense 0.00000837●●●●●●
2457. 144994192 c.9878A>G p.Q3293R missense 0.00000837●●●●●●
2458. 144994193 c.9877C>A p.Q3293K missense 0.00000837●●●●●●
2459. 144995167 c.8903T>C p.L2968P missense 0.00000837●●●●●●
2460. 144995597 c.8473G>A p.V2825I missense 0.00000837●●●●●●
2461. 144995600 c.8470A>C p.I2824L missense 0.00000837●●●●●●
2462. 144995600 c.8470A>G p.I2824V missense 0.00000837●●●●●●
2463. 144995623 c.8447T>C p.F2816S missense 0.00000837●●●●●●
2464. 144995629 c.8441C>T p.S2814F missense 0.00000837●●●●●●
2465. 145011155 c.508C>T p.H170Y missense 0.00000837●●●●●●
2466. 144994167 c.9903C>G p.F3301L missense 0.00000836●●●●●●
2467. 144991326 c.12744G>C p.Q4248H missense 0.00000836●●●●●●
2468. 144991329 c.12741C>G p.D4247E missense 0.00000836●●●●●●
2469. 144992063 c.12007G>C p.V4003L missense 0.00000836●●●●●●
2470. 144993319 c.10751T>C p.V3584A missense 0.00000836●●●●●●
2471. 144993563 c.10507G>A p.D3503N missense 0.00000836●●●●●●
2472. 144994154 c.9916G>A p.V3306I missense 0.00000836●●●●●●
2473. 144994162 c.9908C>G p.T3303R missense 0.00000836●●●●●●
2474. 144994172 c.9898C>G p.Q3300E missense 0.00000836●●●●●●
2475. 144995510 c.8560G>T p.D2854Y missense 0.00000836●●●●●●
2476. 145008810 c.1115C>T p.S372F missense 0.00000836●●●●●●
2477. 145008820 c.1105A>G p.I369V missense 0.00000836●●●●●●
2478. 145008824 c.1101G>C p.K367N missense 0.00000836●●●●●●
2479. 145008831 c.1094G>C p.R365T missense 0.00000836●●●●●●
2480. 145008847 c.1078G>C p.E360Q missense 0.00000836●●●●●●
2481. 145008853 c.1072G>T p.A358S missense 0.00000836●●●●●●
2482. 145011173 c.490A>G p.I164V missense 0.00000836●●●●●●
2483. 145011206 c.457G>A p.A153T missense 0.00000836●●●●●●
2484. 144994108 c.9962_9964delAGG p.Glu3321del inframe 0.00000836●●●●●●
2485. 144995507 c.8563G>A p.V2855M missense 0.00000835●●●●●●
2486. 144991396 c.12674G>T p.R4225L missense 0.00000835●●●●●●
2487. 144991399 c.12671G>A p.R4224H missense 0.00000835●●●●●●
2488. 144991406 c.12664A>G p.I4222V missense 0.00000835●●●●●●
2489. 144991427 c.12643G>T p.G4215C missense 0.00000835●●●●●●
2490. 144994115 c.9955G>A p.V3319M missense 0.00000835●●●●●●
2491. 144994133 c.9937A>G p.K3313E missense 0.00000835●●●●●●
2492. 144994140 c.9930G>C p.K3310N missense 0.00000835●●●●●●
2493. 144994141 c.9929A>G p.K3310R missense 0.00000835●●●●●●
2494. 144994148 c.9922G>T p.V3308L missense 0.00000835●●●●●●
2495. 144995177 c.8893C>T p.R2965W missense 0.00000835●●●●●●
2496. 145001048 c.4029C>T splice site 0.00000835●●●●●●
2497. 145001053 c.4027-3C>T splice site 0.00000835●●●●●●
2498. 145001056 c.4027-6C>T splice site 0.00000835●●●●●●
2499. 144991379 c.12691G>C p.D4231H missense 0.00000834●●●●●●
2500. 144991444 c.12626C>T p.T4209I missense 0.00000834●●●●●●
2501. 144991449 c.12621G>C p.E4207D missense 0.00000834●●●●●●
2502. 144991455 c.12615G>C p.W4205C missense 0.00000834●●●●●●
2503. 144995498 c.8572C>T p.R2858W missense 0.00000834●●●●●●
2504. 144991434 c.12636_12638delCTC p.Ser4213del inframe 0.00000834●●●●●●
2505. 144993325 c.10745C>T p.T3582M missense 0.00000833●●●●●●
2506. 144993343 c.10727C>T p.A3576V missense 0.00000833●●●●●●
2507. 145001028 c.4049A>G p.Y1350C missense 0.00000833●●●●●●
2508. 144992027 c.12043G>A p.E4015K missense 0.00000833●●●●●●
2509. 144993328 c.10742C>T p.T3581I missense 0.00000833●●●●●●
2510. 144993331 c.10739A>C p.E3580A missense 0.00000833●●●●●●
2511. 144993539 c.10531C>T p.P3511S missense 0.00000833●●●●●●
2512. 144993542 c.10528G>A p.V3510M missense 0.00000833●●●●●●
2513. 144995192 c.8878T>C p.F2960L missense 0.00000833●●●●●●
2514. 145000998 c.4079A>G p.Y1360C missense 0.00000833●●●●●●
2515. 145001005 c.4072A>C p.S1358R missense 0.00000833●●●●●●
2516. 145001023 c.4054G>C p.E1352Q missense 0.00000833●●●●●●
2517. 145001024 c.4053C>G p.S1351R missense 0.00000833●●●●●●
2518. 145001025 c.4052G>A p.S1351N missense 0.00000833●●●●●●
2519. 145000953 c.4124_4125+1delAGG essential splice site 0.00000833●●●●●●
2520. 145000977 c.4100C>T p.T1367I missense 0.00000832●●●●●●
2521. 144993373 c.10697G>A p.R3566H missense 0.00000832●●●●●●
2522. 145000981 c.4096G>A p.E1366K missense 0.00000832●●●●●●
2523. 144991534 c.12536T>C p.M4179T missense 0.00000832●●●●●●
2524. 144993338 c.10732G>A p.V3578M missense 0.00000832●●●●●●
2525. 144991508 c.12562G>A p.G4188S missense 0.00000832●●●●●●
2526. 144991805 c.12265C>G p.P4089A missense 0.00000832●●●●●●
2527. 144991810 c.12260G>A p.R4087Q missense 0.00000832●●●●●●
2528. 144991835 c.12235A>G p.I4079V missense 0.00000832●●●●●●
2529. 144991838 c.12232G>A p.G4078S missense 0.00000832●●●●●●
2530. 144991855 c.12215C>T p.A4072V missense 0.00000832●●●●●●
2531. 144992003 c.12067G>A p.V4023M missense 0.00000832●●●●●●
2532. 144993346 c.10724A>G p.K3575R missense 0.00000832●●●●●●
2533. 144993533 c.10537G>T p.D3513Y missense 0.00000832●●●●●●
2534. 144995206 c.8864T>C p.I2955T missense 0.00000832●●●●●●
2535. 144995208 c.8862C>G p.I2954M missense 0.00000832●●●●●●
2536. 145000978 c.4099A>C p.T1367P missense 0.00000832●●●●●●
2537. 145000992 c.4085_4090delAGTTCA p.Lys1362_Phe1363del inframe 0.00000832●●●●●●
2538. 144991783 c.12287G>A p.R4096H missense 0.00000831●●●●●●
2539. 144991591 c.12479A>G p.K4160R missense 0.00000831●●●●●●
2540. 144991994 c.12076G>A p.E4026K missense 0.00000831●●●●●●
2541. 144993520 c.10550A>C p.Q3517P missense 0.00000831●●●●●●
2542. 144993383 c.10687A>T p.T3563S missense 0.00000831●●●●●●
2543. 144991556 c.12514G>A p.D4172N missense 0.00000831●●●●●●
2544. 144991579 c.12491G>A p.R4164H missense 0.00000831●●●●●●
2545. 144991583 c.12487G>A p.V4163M missense 0.00000831●●●●●●
2546. 144991600 c.12470C>T p.T4157M missense 0.00000831●●●●●●
2547. 144991784 c.12286C>T p.R4096C missense 0.00000831●●●●●●
2548. 144991786 c.12284A>T p.K4095M missense 0.00000831●●●●●●
2549. 144991786 c.12284A>G p.K4095R missense 0.00000831●●●●●●
2550. 144991876 c.12194A>G p.H4065R missense 0.00000831●●●●●●
2551. 144991940 c.12130C>T p.P4044S missense 0.00000831●●●●●●
2552. 144991970 c.12100G>T p.A4034S missense 0.00000831●●●●●●
2553. 144993507 c.10563C>A p.F3521L missense 0.00000831●●●●●●
2554. 144993511 c.10559A>G p.Y3520C missense 0.00000831●●●●●●
2555. 144993518 c.10552C>T p.R3518C missense 0.00000831●●●●●●
2556. 144995481 c.8589C>G p.D2863E missense 0.00000831●●●●●●
2557. 144995483 c.8587G>C p.D2863H missense 0.00000831●●●●●●
2558. 145012790 c.255+9C>T splice site 0.00000831●●●●●●
2559. 145012791 c.255+8delG splice site 0.00000831●●●●●●
2560. 144991745 c.12325G>A p.D4109N missense 0.00000830●●●●●●
2561. 144991613 c.12457C>T p.R4153W missense 0.00000830●●●●●●
2562. 144991639 c.12431G>T p.C4144F missense 0.00000830●●●●●●
2563. 144991648 c.12422C>G p.T4141R missense 0.00000830●●●●●●
2564. 144991650 c.12420G>C p.Q4140H missense 0.00000830●●●●●●
2565. 144991655 c.12415C>T p.P4139S missense 0.00000830●●●●●●
2566. 144991742 c.12328C>T p.P4110S missense 0.00000830●●●●●●
2567. 144991745 c.12325G>C p.D4109H missense 0.00000830●●●●●●
2568. 144991748 c.12322A>T p.T4108S missense 0.00000830●●●●●●
2569. 144991762 c.12308T>C p.M4103T missense 0.00000830●●●●●●
2570. 144993392 c.10678G>T p.D3560Y missense 0.00000830●●●●●●
2571. 144993471 c.10599C>A p.S3533R missense 0.00000830●●●●●●
2572. 144993492 c.10578C>A p.N3526K missense 0.00000830●●●●●●
2573. 144995225 c.8845G>A p.V2949M missense 0.00000830●●●●●●
2574. 144995230 c.8840A>G p.K2947R missense 0.00000830●●●●●●
2575. 144995233 c.8837G>A p.G2946D missense 0.00000830●●●●●●
2576. 144995237 c.8833C>T p.Q2945X nonsense 0.00000830●●●●●●
2577. 145012848 c.206G>A p.R69H missense 0.00000830●●●●●●
2578. 144991753 c.12317_12326delTCCTGACCGA p.Ile4106ThrfsTer23 frameshift 0.00000830●●●●●●
2579. 144995369 c.8701G>T p.D2901Y missense 0.00000829●●●●●●
2580. 144993453 c.10617_10619delCTT p.F3539_F3540delinsF inframe 0.00000829●●●●●●
2581. 144991712 c.12358C>T p.P4120S missense 0.00000829●●●●●●
2582. 144991719 c.12351C>A p.F4117L missense 0.00000829●●●●●●
2583. 144993441 c.10629C>A p.N3543K missense 0.00000829●●●●●●
2584. 144995249 c.8821T>A p.F2941I missense 0.00000829●●●●●●
2585. 144995330 c.8740A>G p.K2914E missense 0.00000829●●●●●●
2586. 144995354 c.8716C>A p.L2906M missense 0.00000829●●●●●●
2587. 144995363 c.8707G>A p.E2903K missense 0.00000829●●●●●●
2588. 144995367 c.8703C>A p.D2901E missense 0.00000829●●●●●●
2589. 144995368 c.8702A>C p.D2901A missense 0.00000829●●●●●●
2590. 144995369 c.8701G>C p.D2901H missense 0.00000829●●●●●●
2591. 144995381 c.8689C>T p.R2897C missense 0.00000829●●●●●●
2592. 144995386 c.8684T>A p.L2895Q missense 0.00000829●●●●●●
2593. 144995396 c.8674C>A p.L2892M missense 0.00000829●●●●●●
2594. 144995407 c.8663A>G p.N2888S missense 0.00000829●●●●●●
2595. 144995412 c.8658C>G p.H2886Q missense 0.00000829●●●●●●
2596. 144995416 c.8654C>T p.T2885M missense 0.00000829●●●●●●
2597. 144995447 c.8623G>A p.D2875N missense 0.00000829●●●●●●
2598. 144995285 c.8785C>T p.R2929W missense 0.00000828●●●●●●
2599. 144995302 c.8768A>G p.Y2923C missense 0.00000828●●●●●●
2600. 144995323 c.8747C>T p.A2916V missense 0.00000828●●●●●●
2601. 144995291 c.8779G>A p.E2927K missense 0.00000828●●●●●●
2602. 144995291 c.8779G>C p.E2927Q 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.