OBSCN variants in ExAC

OBSCN gene summary
OBSCN variants in

The table below lists the OBSCN 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. 228444565 c.4523T>A p.V1508D missense 1.00000000●●●●●●
2. 228503677 c.13142A>G p.H4381R missense 0.70139015●●●●●●
3. 228504472 c.13348T>C p.C4450R missense 0.69486042●●●●●●
4. 228505668 c.13925C>G p.S4642C missense 0.69402762●●●●●●
5. 228464248 c.6318T>G p.D2106E missense 0.69298515●●●●●●
6. 228509427 c.14885A>G p.D4962G missense 0.68624604●●●●●●
7. 228464276 c.6346T>C p.F2116L missense 0.68432646●●●●●●
8. 228402121 c.1505A>G p.Q502R missense 0.65386413●●●●●●
9. 228528563 c.17671C>G p.Q5891E missense 0.54681826●●●●●●
10. 228504670 c.13546C>T p.R4516W missense 0.42304493●●●●●●
11. 228494790 c.12115G>A p.G4039R missense 0.40908409●●●●●●
12. 228523005 c.16405+6_16405+7insG splice site 0.39772727●●●●●●
13. 228520973 c.15805C>G p.L5269V missense 0.39379347●●●●●●
14. 228412228 c.2722G>A p.A908T missense 0.34707232●●●●●●
15. 228470995 c.8737+10G>T splice site 0.34532143●●●●●●
16. 228468458 c.8158G>A p.V2720M missense 0.30041062●●●●●●
17. 228451826 c.4595C>T p.A1532V missense 0.29440789●●●●●●
18. 228475848 c.9898G>A p.A3300T missense 0.29234375●●●●●●
19. 228505204 c.13601G>A p.R4534H missense 0.26191414●●●●●●
20. 228504591 c.13467C>A p.H4489Q missense 0.24437234●●●●●●
21. 228461757 c.5416+8G>A splice site 0.20523323●●●●●●
22. 228505739 c.13996G>A p.G4666S missense 0.18431694●●●●●●
23. 228529129 c.17857-9C>A splice site 0.13864465●●●●●●
24. 228525008 c.16724G>A p.R5575H missense 0.13349813●●●●●●
25. 228548197 c.19604G>A p.R6535H missense 0.13112623●●●●●●
26. 228467711 c.7586G>A p.R2529Q missense 0.07466675●●●●●●
27. 228476367 c.10117A>T p.S3373C missense 0.05143013●●●●●●
28. 228476366 c.10116G>T p.E3372D missense 0.05138297●●●●●●
29. 228505727 c.13984C>T p.R4662C missense 0.04875381●●●●●●
30. 228469870 c.8434C>T p.R2812W missense 0.04840861●●●●●●
31. 228496066 c.12721G>T p.A4241S missense 0.04025258●●●●●●
32. 228469903 c.8467A>T p.R2823X nonsense 0.03568709●●●●●●
33. 228469904 c.8468G>T p.R2823I missense 0.03564751●●●●●●
34. 228432264 c.3473A>T p.H1158L missense 0.03240679●●●●●●
35. 228404997 c.2653+8C>T splice site 0.03199417●●●●●●
36. 228452032 c.4801G>A p.A1601T missense 0.02620706●●●●●●
37. 228482059 c.11338G>A p.G3780R missense 0.02124930●●●●●●
38. 228464303 c.6373G>T p.A2125S missense 0.02044013●●●●●●
39. 228399671 c.187G>A p.D63N missense 0.01725738●●●●●●
40. 228522776 c.16187-5C>A splice site 0.01638752●●●●●●
41. 228469801 c.8365G>C p.G2789R missense 0.01507916●●●●●●
42. 228452016 c.4785G>C p.E1595D missense 0.01367652●●●●●●
43. 228468069 c.7853G>A p.S2618N missense 0.01319654●●●●●●
44. 228462332 c.5743G>A p.E1915K missense 0.01318385●●●●●●
45. 228464316 c.6386C>G p.P2129R missense 0.01290535●●●●●●
46. 228481897 c.11176A>C p.T3726P missense 0.01281733●●●●●●
47. 228404305 c.2279G>A p.R760Q missense 0.01216921●●●●●●
48. 228503566 c.13031G>A p.R4344Q missense 0.01164866●●●●●●
49. 228548116 c.19523C>A p.T6508K missense 0.01091899●●●●●●
50. 228547827 c.19234G>C p.A6412P missense 0.01063683●●●●●●
51. 228431034 c.3080A>G p.K1027R missense 0.00987154●●●●●●
52. 228509589 c.15047G>A p.R5016Q missense 0.00981783●●●●●●
53. 228461615 c.5282G>A p.R1761H missense 0.00975438●●●●●●
54. 228506912 c.14459T>C p.L4820P missense 0.00917219●●●●●●
55. 228475954 c.10004C>T p.A3335V missense 0.00899937●●●●●●
56. 228526578 c.17109T>A p.S5703R missense 0.00845450●●●●●●
57. 228504586 c.13462C>G p.H4488D missense 0.00815087●●●●●●
58. 228520995 c.15827G>A p.R5276H missense 0.00766017●●●●●●
59. 228504650 c.13526G>A p.R4509H missense 0.00722439●●●●●●
60. 228464255 c.6325T>C p.W2109R missense 0.00709202●●●●●●
61. 228464633 c.6490C>G p.L2164V missense 0.00561951●●●●●●
62. 228470764 c.8516C>T p.A2839V missense 0.00543117●●●●●●
63. 228444385 c.4343T>C p.V1448A missense 0.00528872●●●●●●
64. 228467095 c.7346T>C p.V2449A missense 0.00518855●●●●●●
65. 228399519 c.35T>A p.F12Y missense 0.00492109●●●●●●
66. 228506756 c.14303C>T p.S4768L missense 0.00475165●●●●●●
67. 228481067 c.10881G>C p.K3627N missense 0.00472266●●●●●●
68. 228479808 c.10549G>A p.E3517K missense 0.00467800●●●●●●
69. 228528298 c.17507T>C p.V5836A missense 0.00425318●●●●●●
70. 228548290 c.19697C>T p.P6566L missense 0.00388083●●●●●●
71. 228465000 c.6740C>T p.S2247F missense 0.00369653●●●●●●
72. 228432047 c.3256G>T p.A1086S missense 0.00364976●●●●●●
73. 228404368 c.2342G>A p.R781H missense 0.00345605●●●●●●
74. 228505275 c.13672C>T p.R4558C missense 0.00327190●●●●●●
75. 228506961 c.14502+6delC splice site 0.00309770●●●●●●
76. 228527749 c.17362C>T p.R5788C missense 0.00305112●●●●●●
77. 228473959 c.9185T>G p.V3062G missense 0.00273172●●●●●●
78. 228401416 c.1258+5_1258+6insCGGGGCGGGGCA splice site 0.00269845●●●●●●
79. 228504574 c.13450G>A p.A4484T missense 0.00263691●●●●●●
80. 228538568 c.18343C>G p.R6115G missense 0.00249427●●●●●●
81. 228548112 c.19519C>T p.P6507S missense 0.00242877●●●●●●
82. 228476484 c.10234G>A p.G3412R missense 0.00239345●●●●●●
83. 228480317 c.10697C>T p.P3566L missense 0.00231018●●●●●●
84. 228404864 c.2528G>A p.R843H missense 0.00228972●●●●●●
85. 228412195 c.2689C>T p.R897C missense 0.00213938●●●●●●
86. 228503679 c.13144A>G p.T4382A missense 0.00213348●●●●●●
87. 228524756 c.16589T>C p.V5530A missense 0.00205726●●●●●●
88. 228497271 c.13012+11C>A splice site 0.00204333●●●●●●
89. 228509733 c.15191C>T p.A5064V missense 0.00198707●●●●●●
90. 228509610 c.15068C>T p.P5023L missense 0.00189181●●●●●●
91. 228399871 c.387C>A p.F129L missense 0.00189107●●●●●●
92. 228399870 c.386T>A p.F129Y missense 0.00188929●●●●●●
93. 228523957 c.16523G>T p.G5508V missense 0.00186474●●●●●●
94. 228504614 c.13490A>T p.Q4497L missense 0.00181294●●●●●●
95. 228456382 c.5013A>C p.K1671N missense 0.00178209●●●●●●
96. 228522990 c.16396G>A p.V5466I missense 0.00174277●●●●●●
97. 228433376 c.3744A>C p.Q1248H missense 0.00166068●●●●●●
98. 228403360 c.1925G>T p.G642V missense 0.00160160●●●●●●
99. 228506761 c.14308C>T p.R4770C missense 0.00159416●●●●●●
100. 228464267 c.6337G>T p.G2113C missense 0.00157471●●●●●●
101. 228480319 c.10699G>C p.V3567L missense 0.00156496●●●●●●
102. 228470803 c.8555G>A p.R2852Q missense 0.00152049●●●●●●
103. 228494216 c.11803C>T p.R3935W missense 0.00151063●●●●●●
104. 228401183 c.1030G>C p.V344L missense 0.00150845●●●●●●
105. 228461611 c.5278C>T p.R1760C missense 0.00147981●●●●●●
106. 228461999 c.5537C>T p.T1846M missense 0.00144344●●●●●●
107. 228495983 c.12638G>A p.R4213H missense 0.00134602●●●●●●
108. 228469861 c.8425T>G p.F2809V missense 0.00130488●●●●●●
109. 228401417 c.1258+6C>T splice site 0.00126263●●●●●●
110. 228437749 c.4117G>A p.E1373K missense 0.00124461●●●●●●
111. 228404818 c.2482G>T p.V828L missense 0.00120781●●●●●●
112. 228528549 c.17657A>G p.Y5886C missense 0.00118275●●●●●●
113. 228497176 c.12937-9G>A splice site 0.00113618●●●●●●
114. 228509109 c.14567G>A p.R4856H missense 0.00113043●●●●●●
115. 228522798 c.16204G>A p.V5402M missense 0.00112676●●●●●●
116. 228505725 c.13982A>C p.E4661A missense 0.00111827●●●●●●
117. 228462377 c.5788G>A p.V1930M missense 0.00107790●●●●●●
118. 228506961 c.14502+6_14502+7insC splice site 0.00106642●●●●●●
119. 228496905 c.12845G>A p.R4282H missense 0.00105768●●●●●●
120. 228400211 c.727G>C p.G243R missense 0.00105639●●●●●●
121. 228474614 c.9418C>T p.R3140W missense 0.00103137●●●●●●
122. 228465516 c.6816T>G p.F2272L missense 0.00101859●●●●●●
123. 228404169 c.2143G>A p.E715K missense 0.00100698●●●●●●
124. 228468437 c.8137G>A p.A2713T missense 0.00100537●●●●●●
125. 228522931 c.16337C>T p.T5446I missense 0.00099628●●●●●●
126. 228467079 c.7330A>T p.T2444S missense 0.00099521●●●●●●
127. 228482068 c.11347T>C p.S3783P missense 0.00099333●●●●●●
128. 228527812 c.17415+10C>A splice site 0.00098559●●●●●●
129. 228506687 c.14234G>A p.R4745Q missense 0.00097739●●●●●●
130. 228526653 c.17184C>A p.H5728Q missense 0.00094298●●●●●●
131. 228461504 c.5171G>A p.R1724H missense 0.00093382●●●●●●
132. 228494607 c.11932C>A p.P3978T missense 0.00088940●●●●●●
133. 228521394 c.15967G>A p.V5323I missense 0.00088678●●●●●●
134. 228462510 c.5921G>A p.G1974D missense 0.00085476●●●●●●
135. 228401940 c.1324G>C p.V442L missense 0.00085127●●●●●●
136. 228437846 c.4214G>A p.R1405Q missense 0.00084539●●●●●●
137. 228467969 c.7753G>C p.D2585H missense 0.00082799●●●●●●
138. 228504655 c.13531G>A p.A4511T missense 0.00081481●●●●●●
139. 228433171 c.3539C>T p.A1180V missense 0.00081170●●●●●●
140. 228509430 c.14888G>A p.R4963H missense 0.00079904●●●●●●
141. 228471294 c.8828C>T p.A2943V missense 0.00078442●●●●●●
142. 228467130 c.7381C>T p.R2461C missense 0.00077998●●●●●●
143. 228547341 c.18748C>T p.Arg6250Ter nonsense 0.00076911●●●●●●
144. 228469826 c.8390G>A p.R2797Q missense 0.00073177●●●●●●
145. 228548255 c.19662G>C p.L6554F missense 0.00072709●●●●●●
146. 228509681 c.15139G>T p.D5047Y missense 0.00070870●●●●●●
147. 228526619 c.17150G>A p.S5717N missense 0.00069720●●●●●●
148. 228547494 c.18901C>G p.P6301A missense 0.00068875●●●●●●
149. 228538635 c.18410C>T p.P6137L missense 0.00068050●●●●●●
150. 228463548 c.6041C>A p.P2014Q missense 0.00067244●●●●●●
151. 228505257 c.13654G>A p.G4552S missense 0.00066476●●●●●●
152. 228399851 c.367G>A p.E123K missense 0.00065641●●●●●●
153. 228509279 c.14737G>T p.D4913Y missense 0.00065457●●●●●●
154. 228404335 c.2309G>A p.R770Q missense 0.00064661●●●●●●
155. 228495112 c.12346G>A p.E4116K missense 0.00062555●●●●●●
156. 228463680 c.6173G>T p.G2058V missense 0.00061046●●●●●●
157. 228496013 c.12668C>T p.T4223M missense 0.00056414●●●●●●
158. 228404990 c.2653+1G>C essential splice site 0.00056373●●●●●●
159. 228526655 c.17186T>A p.V5729E missense 0.00055748●●●●●●
160. 228461605 c.5272G>C p.E1758Q missense 0.00054994●●●●●●
161. 228461900 c.5438G>A p.R1813Q missense 0.00054413●●●●●●
162. 228509555 c.15013G>A p.D5005N missense 0.00054233●●●●●●
163. 228494343 c.11926+4G>C splice site 0.00054130●●●●●●
164. 228495226 c.12460G>T p.V4154F missense 0.00053574●●●●●●
165. 228465523 c.6823G>A p.E2275K missense 0.00053480●●●●●●
166. 228494097 c.11684C>T p.P3895L missense 0.00053350●●●●●●
167. 228504592 c.13468G>A p.A4490T missense 0.00052831●●●●●●
168. 228467881 c.7665G>A p.A2555A splice site 0.00051968●●●●●●
169. 228520929 c.15761C>T p.T5254I missense 0.00051785●●●●●●
170. 228526067 c.17078G>T p.R5693M missense 0.00051017●●●●●●
171. 228437851 c.4219C>G p.L1407V missense 0.00050557●●●●●●
172. 228434381 c.3910G>A p.V1304M missense 0.00050512●●●●●●
173. 228473782 c.9008G>A p.R3003Q missense 0.00049072●●●●●●
174. 228475770 c.9820G>A p.A3274T missense 0.00049050●●●●●●
175. 228505739 c.13996G>T p.G4666C missense 0.00048890●●●●●●
176. 228470926 c.8678C>T p.A2893V missense 0.00047150●●●●●●
177. 228525823 c.16979C>T p.A5660V missense 0.00047072●●●●●●
178. 228494144 c.11731T>G p.C3911G missense 0.00045890●●●●●●
179. 228479802 c.10543G>A p.A3515T missense 0.00044710●●●●●●
180. 228463578 c.6071C>T p.A2024V missense 0.00044684●●●●●●
181. 228527758 c.17371G>C p.A5791P missense 0.00044378●●●●●●
182. 228434277 c.3806G>A p.R1269Q missense 0.00042237●●●●●●
183. 228468144 c.7928G>A p.R2643Q missense 0.00042178●●●●●●
184. 228521489 c.16054+8C>T splice site 0.00041982●●●●●●
185. 228402745 c.1774C>T p.L592F missense 0.00041687●●●●●●
186. 228528530 c.17638G>A p.V5880M missense 0.00041618●●●●●●
187. 228434220 c.3758-9C>T splice site 0.00041218●●●●●●
188. 228539044 c.18442C>G p.L6148V missense 0.00040384●●●●●●
189. 228469873 c.8437G>C p.G2813R missense 0.00040192●●●●●●
190. 228496021 c.12676G>T p.D4226Y missense 0.00040039●●●●●●
191. 228468104 c.7888T>G p.S2630A missense 0.00040019●●●●●●
192. 228527811 c.17415+9G>A splice site 0.00038430●●●●●●
193. 228464889 c.6629C>T p.T2210M missense 0.00038420●●●●●●
194. 228470725 c.8477C>T p.P2826L missense 0.00038300●●●●●●
195. 228474542 c.9346G>A p.V3116M missense 0.00038289●●●●●●
196. 228509321 c.14779G>A p.V4927M missense 0.00037864●●●●●●
197. 228503592 c.13057G>A p.E4353K missense 0.00037482●●●●●●
198. 228430962 c.3008G>C p.S1003T missense 0.00037403●●●●●●
199. 228476025 c.10075C>A p.P3359T missense 0.00037402●●●●●●
200. 228462007 c.5545C>T p.R1849W missense 0.00036899●●●●●●
201. 228469825 c.8389C>T p.R2797W missense 0.00036599●●●●●●
202. 228474494 c.9298C>T p.R3100W missense 0.00036596●●●●●●
203. 228467994 c.7778A>G p.N2593S missense 0.00036576●●●●●●
204. 228437717 c.4085C>T p.A1362V missense 0.00036541●●●●●●
205. 228481854 c.11133C>T p.A3711A splice site 0.00036447●●●●●●
206. 228520597 c.15689C>T p.T5230M missense 0.00035141●●●●●●
207. 228494163 c.11750C>T p.T3917I missense 0.00035054●●●●●●
208. 228503802 c.13267G>A p.A4423T missense 0.00034504●●●●●●
209. 228528214 c.17423C>T p.A5808V missense 0.00034420●●●●●●
210. 228400262 c.778_779insACG p.Y260delinsYD inframe 0.00034349●●●●●●
211. 228481084 c.10898G>A p.R3633K missense 0.00034110●●●●●●
212. 228548256 c.19663C>T p.R6555W missense 0.00033665●●●●●●
213. 228471293 c.8827G>A p.A2943T missense 0.00033372●●●●●●
214. 228523528 c.16442C>T p.A5481V missense 0.00033143●●●●●●
215. 228403485 c.2050T>C p.F684L missense 0.00033130●●●●●●
216. 228473946 c.9172G>A p.G3058R missense 0.00032685●●●●●●
217. 228526039 c.17050G>A p.A5684T missense 0.00032407●●●●●●
218. 228475506 c.9656A>G p.Y3219C missense 0.00032351●●●●●●
219. 228495821 c.12476T>G p.V4159G missense 0.00032322●●●●●●
220. 228522537 c.16109C>T p.P5370L missense 0.00031478●●●●●●
221. 228494243 c.11830G>A p.A3944T missense 0.00030771●●●●●●
222. 228461936 c.5474C>T p.T1825M missense 0.00030463●●●●●●
223. 228404367 c.2341C>T p.R781C missense 0.00030255●●●●●●
224. 228509588 c.15046C>T p.R5016W missense 0.00029928●●●●●●
225. 228412339 c.2833C>T p.R945C missense 0.00029871●●●●●●
226. 228463452 c.5954-9C>T splice site 0.00029753●●●●●●
227. 228399551 c.67G>A p.V23M missense 0.00029544●●●●●●
228. 228461579 c.5246C>T p.T1749M missense 0.00029210●●●●●●
229. 228412415 c.2909C>T p.S970F missense 0.00029175●●●●●●
230. 228476439 c.10189C>T p.R3397C missense 0.00028984●●●●●●
231. 228504628 c.13504G>A p.G4502R missense 0.00028726●●●●●●
232. 228526715 c.17246G>T p.R5749L missense 0.00028498●●●●●●
233. 228509475 c.14933G>A p.G4978D missense 0.00028421●●●●●●
234. 228494830 c.12155C>T p.T4052M missense 0.00028220●●●●●●
235. 228481314 c.11128A>G p.R3710G missense 0.00028096●●●●●●
236. 228547588 c.18995T>C p.I6332T missense 0.00027860●●●●●●
237. 228461986 c.5524C>T p.R1842C missense 0.00027754●●●●●●
238. 228399619 c.135G>C p.K45N missense 0.00027750●●●●●●
239. 228506881 c.14428C>T p.R4810W missense 0.00027430●●●●●●
240. 228464412 c.6482T>A p.V2161D missense 0.00027429●●●●●●
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1198. 228504415 c.13291C>T p.R4431C missense 0.00003138●●●●●●
1199. 228528465 c.17573C>A p.A5858E missense 0.00003134●●●●●●
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1202. 228464642 c.6499A>T p.S2167C missense 0.00003123●●●●●●
1203. 228470935 c.8687A>G p.Y2896C missense 0.00003100●●●●●●
1204. 228464315 c.6385C>T p.P2129S missense 0.00003082●●●●●●
1205. 228470931 c.8683G>A p.E2895K missense 0.00003081●●●●●●
1206. 228463533 c.6026T>G p.V2009G missense 0.00003079●●●●●●
1207. 228497004 c.12936+8C>T splice site 0.00003072●●●●●●
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1209. 228474710 c.9514G>A p.A3172T missense 0.00003038●●●●●●
1210. 228462470 c.5881G>A p.V1961M missense 0.00003032●●●●●●
1211. 228496994 c.12934A>G p.K4312E missense 0.00003032●●●●●●
1212. 228400443 c.959C>T p.T320I missense 0.00003023●●●●●●
1213. 228473980 c.9206C>T p.A3069V missense 0.00003006●●●●●●
1214. 228462433 c.5844G>C p.Q1948H missense 0.00003005●●●●●●
1215. 228494691 c.12016G>T p.G4006C missense 0.00002996●●●●●●
1216. 228470812 c.8564C>T p.T2855M missense 0.00002991●●●●●●
1217. 228400211 c.727_728insGCACGCGCACCT p.Gly243_Thr244insThrArgThrCys inframe 0.00002990●●●●●●
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1219. 228473820 c.9046G>A p.V3016M missense 0.00002958●●●●●●
1220. 228496976 c.12916C>T p.H4306Y missense 0.00002950●●●●●●
1221. 228464306 c.6376G>C p.V2126L missense 0.00002943●●●●●●
1222. 228547665 c.19072C>A p.L6358I missense 0.00002943●●●●●●
1223. 228473934 c.9160G>A p.D3054N missense 0.00002941●●●●●●
1224. 228521349 c.15922C>T p.R5308C missense 0.00002922●●●●●●
1225. 228496974 c.12914T>C p.L4305P missense 0.00002914●●●●●●
1226. 228548175 c.19582G>A p.G6528S missense 0.00002897●●●●●●
1227. 228400433 c.949G>A p.V317M missense 0.00002888●●●●●●
1228. 228403296 c.1861G>A p.A621T missense 0.00002885●●●●●●
1229. 228503788 c.13253A>T p.D4418V missense 0.00002884●●●●●●
1230. 228401205 c.1052C>T p.T351M missense 0.00002880●●●●●●
1231. 228525023 c.16739G>A p.R5580Q missense 0.00002877●●●●●●
1232. 228464403 c.6473G>A p.R2158Q missense 0.00002876●●●●●●
1233. 228467765 c.7640G>T p.S2547I missense 0.00002876●●●●●●
1234. 228464652 c.6509G>A p.R2170H missense 0.00002874●●●●●●
1235. 228403297 c.1862C>T p.A621V missense 0.00002870●●●●●●
1236. 228461692 c.5359G>A p.A1787T missense 0.00002868●●●●●●
1237. 228548257 c.19664G>A p.R6555Q missense 0.00002868●●●●●●
1238. 228430895 c.2941G>T p.V981L missense 0.00002859●●●●●●
1239. 228464402 c.6472C>T p.R2158W missense 0.00002853●●●●●●
1240. 228496967 c.12907G>A p.G4303S missense 0.00002837●●●●●●
1241. 228524734 c.16567G>A p.G5523S missense 0.00002831●●●●●●
1242. 228430898 c.2944T>G p.F982V missense 0.00002821●●●●●●
1243. 228548271 c.19678C>T p.R6560W missense 0.00002819●●●●●●
1244. 228509780 c.15238G>A p.A5080T missense 0.00002818●●●●●●
1245. 228547857 c.19264G>C p.G6422R missense 0.00002816●●●●●●
1246. 228506834 c.14381G>A p.R4794H missense 0.00002806●●●●●●
1247. 228400190 c.706C>T p.P236S missense 0.00002780●●●●●●
1248. 228401211 c.1058T>C p.L353P missense 0.00002779●●●●●●
1249. 228401211 c.1058T>A p.L353Q missense 0.00002779●●●●●●
1250. 228548319 c.19726C>T p.R6576W missense 0.00002777●●●●●●
1251. 228463700 c.6193A>G p.K2065E missense 0.00002775●●●●●●
1252. 228525690 c.16846G>A p.A5616T missense 0.00002773●●●●●●
1253. 228509097 c.14555T>C p.L4852P missense 0.00002773●●●●●●
1254. 228496831 c.12771G>T p.Q4257H missense 0.00002771●●●●●●
1255. 228509186 c.14644G>A p.A4882T missense 0.00002769●●●●●●
1256. 228548292 c.19699T>C p.W6567R missense 0.00002764●●●●●●
1257. 228461716 c.5383G>A p.A1795T missense 0.00002761●●●●●●
1258. 228547302 c.18709G>C p.E6237Q missense 0.00002761●●●●●●
1259. 228525841 c.16997T>C p.L5666P missense 0.00002751●●●●●●
1260. 228511284 c.15629C>A p.T5210N missense 0.00002745●●●●●●
1261. 228511284 c.15629C>T p.T5210I missense 0.00002745●●●●●●
1262. 228509207 c.14665C>T p.R4889W missense 0.00002741●●●●●●
1263. 228506700 c.14247G>A p.M4749I missense 0.00002738●●●●●●
1264. 228525715 c.16871G>A p.R5624Q missense 0.00002729●●●●●●
1265. 228467146 c.7396+1G>T essential splice site 0.00002717●●●●●●
1266. 228403398 c.1963A>G p.S655G missense 0.00002714●●●●●●
1267. 228521410 c.15983C>G p.S5328C missense 0.00002710●●●●●●
1268. 228403305 c.1870G>A p.A624T missense 0.00002708●●●●●●
1269. 228403305 c.1870G>T p.A624S missense 0.00002708●●●●●●
1270. 228494089 c.11676C>G p.F3892L missense 0.00002706●●●●●●
1271. 228506701 c.14248A>G p.S4750G missense 0.00002701●●●●●●
1272. 228465002 c.6742G>A p.V2248M missense 0.00002695●●●●●●
1273. 228470818 c.8570T>C p.V2857A missense 0.00002692●●●●●●
1274. 228525772 c.16928G>A p.R5643H missense 0.00002687●●●●●●
1275. 228401331 c.1178A>C p.N393T missense 0.00002682●●●●●●
1276. 228470914 c.8666C>T p.S2889L missense 0.00002672●●●●●●
1277. 228430944 c.2990G>A p.G997E missense 0.00002668●●●●●●
1278. 228467131 c.7382G>A p.R2461H missense 0.00002665●●●●●●
1279. 228473833 c.9059C>T p.S3020F missense 0.00002664●●●●●●
1280. 228474609 c.9413C>T p.S3138F missense 0.00002661●●●●●●
1281. 228529820 c.18035G>A p.R6012Q missense 0.00002653●●●●●●
1282. 228547305 c.18712A>G p.T6238A missense 0.00002653●●●●●●
1283. 228506762 c.14309G>A p.R4770H missense 0.00002650●●●●●●
1284. 228509828 c.15286C>T p.R5096W missense 0.00002644●●●●●●
1285. 228430923 c.2969G>A p.S990N missense 0.00002630●●●●●●
1286. 228469630 c.8198-4G>A splice site 0.00002630●●●●●●
1287. 228474602 c.9406C>T p.R3136W missense 0.00002625●●●●●●
1288. 228474603 c.9407G>A p.R3136Q missense 0.00002625●●●●●●
1289. 228506704 c.14251C>A p.R4751S missense 0.00002625●●●●●●
1290. 228401328 c.1175G>C p.R392P missense 0.00002623●●●●●●
1291. 228464196 c.6266G>A p.R2089Q missense 0.00002622●●●●●●
1292. 228528850 c.17752C>G p.H5918D missense 0.00002620●●●●●●
1293. 228404981 c.2645G>A p.R882H missense 0.00002610●●●●●●
1294. 228473836 c.9062C>T p.S3021L missense 0.00002610●●●●●●
1295. 228494213 c.11800C>T p.R3934C missense 0.00002610●●●●●●
1296. 228431144 c.3190C>T p.R1064C missense 0.00002601●●●●●●
1297. 228461503 c.5170C>T p.R1724C missense 0.00002594●●●●●●
1298. 228538610 c.18385T>G p.C6129G missense 0.00002589●●●●●●
1299. 228528862 c.17764G>A p.V5922M missense 0.00002587●●●●●●
1300. 228506705 c.14252G>T p.R4751L missense 0.00002585●●●●●●
1301. 228466868 c.7127-8C>T splice site 0.00002584●●●●●●
1302. 228494222 c.11809C>G p.P3937A missense 0.00002584●●●●●●
1303. 228529294 c.18013C>T p.R6005C missense 0.00002584●●●●●●
1304. 228505446 c.13843C>T p.R4615W missense 0.00002581●●●●●●
1305. 228494225 c.11812C>T p.R3938W missense 0.00002581●●●●●●
1306. 228529181 c.17900G>A p.R5967H missense 0.00002581●●●●●●
1307. 228464243 c.6313G>C p.V2105L missense 0.00002580●●●●●●
1308. 228505445 c.13842_13843delGC p.Arg4615AlafsTer16 frameshift 0.00002580●●●●●●
1309. 228547888 c.19295G>A p.G6432E missense 0.00002571●●●●●●
1310. 228494237 c.11824T>G p.C3942G missense 0.00002569●●●●●●
1311. 228494955 c.12194-5C>T splice site 0.00002569●●●●●●
1312. 228494956 c.12194-4G>A splice site 0.00002569●●●●●●
1313. 228400193 c.709G>A p.A237T missense 0.00002568●●●●●●
1314. 228494969 c.12203C>T p.P4068L missense 0.00002566●●●●●●
1315. 228494243 c.11830G>T p.A3944S missense 0.00002564●●●●●●
1316. 228463508 c.6001G>A p.E2001K missense 0.00002563●●●●●●
1317. 228466878 c.7129C>G p.Q2377E missense 0.00002562●●●●●●
1318. 228456288 c.4919C>T p.A1640V missense 0.00002561●●●●●●
1319. 228528883 c.17785C>G p.L5929V missense 0.00002556●●●●●●
1320. 228402755 c.1784T>A p.F595Y missense 0.00002554●●●●●●
1321. 228505629 c.13886C>G p.A4629G missense 0.00002553●●●●●●
1322. 228509288 c.14746C>T p.R4916W missense 0.00002553●●●●●●
1323. 228505387 c.13784G>A p.R4595H missense 0.00002552●●●●●●
1324. 228509277 c.14735G>A p.G4912E missense 0.00002552●●●●●●
1325. 228505857 c.14114C>T p.A4705V missense 0.00002549●●●●●●
1326. 228509565 c.15023G>A p.R5008H missense 0.00002549●●●●●●
1327. 228402664 c.1693G>A p.E565K missense 0.00002546●●●●●●
1328. 228412408 c.2902C>T p.R968W missense 0.00002546●●●●●●
1329. 228528941 c.17843G>A p.R5948Q missense 0.00002544●●●●●●
1330. 228509303 c.14761G>A p.V4921M missense 0.00002541●●●●●●
1331. 228528913 c.17815C>T p.R5939C missense 0.00002540●●●●●●
1332. 228462110 c.5648G>A p.R1883H missense 0.00002534●●●●●●
1333. 228461951 c.5489G>A p.C1830Y missense 0.00002533●●●●●●
1334. 228505278 c.13675G>A p.V4559M missense 0.00002532●●●●●●
1335. 228521406 c.15979G>T p.D5327Y missense 0.00002531●●●●●●
1336. 228468393 c.8093C>T p.A2698V missense 0.00002529●●●●●●
1337. 228466407 c.6877G>A p.V2293M missense 0.00002529●●●●●●
1338. 228469652 c.8216C>G p.T2739S missense 0.00002529●●●●●●
1339. 228404774 c.2438G>C p.G813A missense 0.00002522●●●●●●
1340. 228506890 c.14437A>G p.T4813A missense 0.00002521●●●●●●
1341. 228462085 c.5623G>A p.A1875T missense 0.00002520●●●●●●
1342. 228467925 c.7709C>T p.T2570M missense 0.00002518●●●●●●
1343. 228475395 c.9545C>T p.A3182V missense 0.00002518●●●●●●
1344. 228467921 c.7705G>A p.A2569T missense 0.00002516●●●●●●
1345. 228547902 c.19309G>A p.A6437T missense 0.00002516●●●●●●
1346. 228462008 c.5546delG p.Val1850TrpfsTer50 frameshift 0.00002516●●●●●●
1347. 228462011 c.5549T>A p.V1850E missense 0.00002515●●●●●●
1348. 228467880 c.7664C>T p.A2555V missense 0.00002515●●●●●●
1349. 228474567 c.9371T>G p.I3124S missense 0.00002515●●●●●●
1350. 228456464 c.5095G>A p.E1699K missense 0.00002514●●●●●●
1351. 228462046 c.5584G>A p.V1862M missense 0.00002514●●●●●●
1352. 228462052 c.5590T>G p.S1864A missense 0.00002514●●●●●●
1353. 228467053 c.7304G>A p.R2435Q missense 0.00002514●●●●●●
1354. 228467912 c.7696G>T p.D2566Y missense 0.00002513●●●●●●
1355. 228547977 c.19384C>T p.R6462C missense 0.00002513●●●●●●
1356. 228538569 c.18344G>A p.R6115Q missense 0.00002512●●●●●●
1357. 228467052 c.7303C>T p.R2435W missense 0.00002512●●●●●●
1358. 228471432 c.8966T>C p.I2989T missense 0.00002512●●●●●●
1359. 228547966 c.19373C>T p.T6458M missense 0.00002512●●●●●●
1360. 228452056 c.4825G>A p.G1609R missense 0.00002509●●●●●●
1361. 228466419 c.6889C>T p.R2297W missense 0.00002508●●●●●●
1362. 228456432 c.5063C>T p.A1688V missense 0.00002507●●●●●●
1363. 228465479 c.6779G>A p.R2260Q missense 0.00002507●●●●●●
1364. 228466420 c.6890G>A p.R2297Q missense 0.00002507●●●●●●
1365. 228509343 c.14801A>C p.D4934A missense 0.00002504●●●●●●
1366. 228412180 c.2674A>G p.K892E missense 0.00002503●●●●●●
1367. 228434298 c.3827C>G p.A1276G missense 0.00002503●●●●●●
1368. 228474548 c.9352G>A p.E3118K missense 0.00002500●●●●●●
1369. 228524786 c.16619C>T p.T5540I missense 0.00002500●●●●●●
1370. 228471257 c.8791G>A p.G2931S missense 0.00002500●●●●●●
1371. 228401229 c.1076C>G p.P359R missense 0.00002499●●●●●●
1372. 228475644 c.9794C>T p.A3265V missense 0.00002499●●●●●●
1373. 228403437 c.2002C>A p.L668I missense 0.00002497●●●●●●
1374. 228468281 c.7981C>T p.R2661C missense 0.00002497●●●●●●
1375. 228475978 c.10028C>T p.S3343L missense 0.00002497●●●●●●
1376. 228475449 c.9599G>A p.G3200D missense 0.00002496●●●●●●
1377. 228475629 c.9779A>G p.D3260G missense 0.00002496●●●●●●
1378. 228451885 c.4654G>A p.A1552T missense 0.00002493●●●●●●
1379. 228431028 c.3074G>T p.S1025I missense 0.00002493●●●●●●
1380. 228474507 c.9311A>C p.D3104A missense 0.00002493●●●●●●
1381. 228437667 c.4035G>C p.E1345D missense 0.00002492●●●●●●
1382. 228451900 c.4669G>A p.E1557K missense 0.00002491●●●●●●
1383. 228494866 c.12191G>A p.R4064H missense 0.00002491●●●●●●
1384. 228527680 c.17293G>A p.D5765N missense 0.00002490●●●●●●
1385. 228475547 c.9697C>T p.R3233C missense 0.00002489●●●●●●
1386. 228412337 c.2831C>T p.T944M missense 0.00002489●●●●●●
1387. 228434405 c.3934A>G p.M1312V missense 0.00002489●●●●●●
1388. 228437884 c.4252G>A p.G1418R missense 0.00002487●●●●●●
1389. 228444531 c.4489C>T p.R1497W missense 0.00002487●●●●●●
1390. 228412243 c.2737G>A p.E913K missense 0.00002487●●●●●●
1391. 228433149 c.3517C>T p.H1173Y missense 0.00002487●●●●●●
1392. 228434460 c.3989G>A p.C1330Y missense 0.00002487●●●●●●
1393. 228444360 c.4318G>A p.V1440M missense 0.00002487●●●●●●
1394. 228444532 c.4490G>A p.R1497Q missense 0.00002487●●●●●●
1395. 228497221 c.12973G>A p.V4325M missense 0.00002487●●●●●●
1396. 228523975 c.16537+4C>T splice site 0.00002487●●●●●●
1397. 228479715 c.10456G>A p.E3486K missense 0.00002486●●●●●●
1398. 228475825 c.9875C>T p.T3292M missense 0.00002486●●●●●●
1399. 228476337 c.10087C>T p.H3363Y missense 0.00002486●●●●●●
1400. 228479706 c.10447A>G p.K3483E missense 0.00002486●●●●●●
1401. 228481146 c.10960C>T p.P3654S missense 0.00002486●●●●●●
1402. 228412307 c.2801C>T p.S934L missense 0.00002485●●●●●●
1403. 228432218 c.3427G>A p.E1143K missense 0.00002485●●●●●●
1404. 228496938 c.12878A>G p.N4293S missense 0.00002485●●●●●●
1405. 228433209 c.3577C>G p.P1193A missense 0.00002484●●●●●●
1406. 228432207 c.3416C>T p.A1139V missense 0.00002484●●●●●●
1407. 228476466 c.10216C>T p.H3406Y missense 0.00002484●●●●●●
1408. 228432206 c.3415G>A p.A1139T missense 0.00002484●●●●●●
1409. 228433277 c.3645G>C p.E1215D missense 0.00002484●●●●●●
1410. 228433278 c.3646G>T p.V1216F missense 0.00002484●●●●●●
1411. 228433294 c.3662G>A p.R1221Q missense 0.00002484●●●●●●
1412. 228476395 c.10145G>A p.R3382Q missense 0.00002484●●●●●●
1413. 228481916 c.11195C>T p.T3732M missense 0.00002484●●●●●●
1414. 228481925 c.11204G>A p.C3735Y missense 0.00002484●●●●●●
1415. 228482701 c.11616T>G p.C3872W missense 0.00002484●●●●●●
1416. 228482044 c.11323G>T p.A3775S missense 0.00002483●●●●●●
1417. 228482079 c.11358C>G p.C3786W missense 0.00002483●●●●●●
1418. 228547761 c.19168G>A p.A6390T missense 0.00002475●●●●●●
1419. 228462539 c.5950C>T p.R1984X nonsense 0.00002469●●●●●●
1420. 228464673 c.6530C>T p.T2177I missense 0.00002453●●●●●●
1421. 228464714 c.6571C>T p.R2191C missense 0.00002447●●●●●●
1422. 228403320 c.1885G>A p.E629K missense 0.00002443●●●●●●
1423. 228464337 c.6407C>T p.S2136L missense 0.00002441●●●●●●
1424. 228464855 c.6601-6G>A splice site 0.00002441●●●●●●
1425. 228467740 c.7615C>T p.R2539W missense 0.00002428●●●●●●
1426. 228470904 c.8656C>T p.R2886C missense 0.00002427●●●●●●
1427. 228528785 c.17698-11C>T splice site 0.00002415●●●●●●
1428. 228464705 c.6562G>T p.E2188X nonsense 0.00002414●●●●●●
1429. 228496931 c.12871C>T p.Gln4291Ter nonsense 0.00002398●●●●●●
1430. 228496077 c.12732_12733insG p.Val4245GlyfsTer5 frameshift 0.00002397●●●●●●
1431. 228467644 c.7519C>T p.P2507S missense 0.00002379●●●●●●
1432. 228464864 c.6604G>A p.G2202S missense 0.00002378●●●●●●
1433. 228399695 c.211G>T p.D71Y missense 0.00002377●●●●●●
1434. 228467647 c.7522C>G p.L2508V missense 0.00002377●●●●●●
1435. 228547640 c.19047G>C p.E6349D missense 0.00002376●●●●●●
1436. 228528495 c.17603C>A p.S5868Y missense 0.00002375●●●●●●
1437. 228511071 c.15416A>G p.D5139G missense 0.00002373●●●●●●
1438. 228467647 c.7522_7523delCT p.Leu2508ValfsTer4 frameshift 0.00002370●●●●●●
1439. 228503598 c.13063G>A p.G4355S missense 0.00002360●●●●●●
1440. 228462287 c.5698A>G p.K1900E missense 0.00002351●●●●●●
1441. 228503748 c.13213C>G p.R4405G missense 0.00002350●●●●●●
1442. 228467650 c.7525T>C p.S2509P missense 0.00002347●●●●●●
1443. 228463691 c.6184C>T p.P2062S missense 0.00002340●●●●●●
1444. 228506920 c.14467G>A p.A4823T missense 0.00002339●●●●●●
1445. 228495125 c.12359A>C p.Q4120P missense 0.00002336●●●●●●
1446. 228506714 c.14261C>T p.T4754M missense 0.00002336●●●●●●
1447. 228399576 c.92G>A p.C31Y missense 0.00002335●●●●●●
1448. 228467653 c.7528C>G p.P2510A missense 0.00002334●●●●●●
1449. 228467655 c.7530_7533delCTCT p.Ser2511ArgfsTer5 frameshift 0.00002330●●●●●●
1450. 228399602 c.118C>A p.Q40K missense 0.00002324●●●●●●
1451. 228474682 c.9486T>A p.S3162R missense 0.00002321●●●●●●
1452. 228467745 c.7620delC p.Q2541Rfs*18 frameshift 0.00002315●●●●●●
1453. 228467657 c.7532C>T p.S2511F missense 0.00002315●●●●●●
1454. 228506882 c.14429G>A p.R4810Q missense 0.00002294●●●●●●
1455. 228403528 c.2093G>A p.R698Q missense 0.00002289●●●●●●
1456. 228467662 c.7537A>G p.K2513E missense 0.00002289●●●●●●
1457. 228462521 c.5932T>C p.S1978P missense 0.00002285●●●●●●
1458. 228464876 c.6616C>T p.R2206W missense 0.00002263●●●●●●
1459. 228462515 c.5926T>C p.S1976P missense 0.00002236●●●●●●
1460. 228528324 c.17532+1G>A essential splice site 0.00002233●●●●●●
1461. 228528324 c.17532+1G>T essential splice site 0.00002233●●●●●●
1462. 228462513 c.5924C>T p.A1975V missense 0.00002218●●●●●●
1463. 228473950 c.9176G>A p.G3059D missense 0.00002211●●●●●●
1464. 228547324 c.18731A>G p.K6244R missense 0.00002211●●●●●●
1465. 228401247 c.1094G>C p.W365S missense 0.00002200●●●●●●
1466. 228403474 c.2039C>T p.A680V missense 0.00002200●●●●●●
1467. 228403515 c.2080C>T p.R694W missense 0.00002178●●●●●●
1468. 228467999 c.7783A>T p.M2595L missense 0.00002173●●●●●●
1469. 228496917 c.12857G>C p.G4286A missense 0.00002168●●●●●●
1470. 228528591 c.17697+2T>C essential splice site 0.00002160●●●●●●
1471. 228495187 c.12421_12424delTGTG p.Cys4141Ter frameshift 0.00002156●●●●●●
1472. 228473787 c.9013G>A p.V3005M missense 0.00002150●●●●●●
1473. 228461602 c.5269G>A p.V1757M missense 0.00002148●●●●●●
1474. 228464936 c.6676C>T p.R2226W missense 0.00002143●●●●●●
1475. 228496914 c.12854T>C p.L4285S missense 0.00002140●●●●●●
1476. 228468099 c.7883G>A p.R2628H missense 0.00002128●●●●●●
1477. 228473788 c.9014T>G p.V3005G missense 0.00002125●●●●●●
1478. 228468093 c.7877T>A p.I2626K missense 0.00002116●●●●●●
1479. 228547419 c.18826C>T p.P6276S missense 0.00002111●●●●●●
1480. 228462494 c.5905A>G p.T1969A missense 0.00002108●●●●●●
1481. 228467575 c.7450C>T p.Q2484X nonsense 0.00002108●●●●●●
1482. 228468087 c.7871C>A p.A2624E missense 0.00002108●●●●●●
1483. 228511100 c.15445G>A p.V5149M missense 0.00002104●●●●●●
1484. 228464937 c.6677G>C p.R2226P missense 0.00002103●●●●●●
1485. 228506784 c.14331G>T p.E4777D missense 0.00002103●●●●●●
1486. 228521288 c.15861C>A p.Y5287X nonsense 0.00002103●●●●●●
1487. 228547407 c.18814G>A p.G6272S missense 0.00002102●●●●●●
1488. 228461584 c.5251A>G p.T1751A missense 0.00002101●●●●●●
1489. 228400449 c.965G>T p.S322I missense 0.00002100●●●●●●
1490. 228470841 c.8593G>T p.A2865S missense 0.00002099●●●●●●
1491. 228528465 c.17573C>T p.A5858V missense 0.00002089●●●●●●
1492. 228528799 c.17701C>T p.H5901Y missense 0.00002086●●●●●●
1493. 228461579 c.5246C>G p.T1749R missense 0.00002086●●●●●●
1494. 228506725 c.14272A>G p.I4758V missense 0.00002080●●●●●●
1495. 228528464 c.17572G>A p.A5858T missense 0.00002077●●●●●●
1496. 228468078 c.7862G>T p.R2621L missense 0.00002071●●●●●●
1497. 228468114 c.7898A>G p.K2633R missense 0.00002062●●●●●●
1498. 228464885 c.6625A>C p.K2209Q missense 0.00002061●●●●●●
1499. 228467689 c.7564A>T p.M2522L missense 0.00002055●●●●●●
1500. 228401262 c.1109C>A p.T370K missense 0.00002050●●●●●●
1501. 228470877 c.8629G>A p.E2877K missense 0.00002045●●●●●●
1502. 228504497 c.13373C>T p.A4458V missense 0.00002041●●●●●●
1503. 228463518 c.6011C>T p.S2004L missense 0.00002037●●●●●●
1504. 228547381 c.18788G>A p.R6263H missense 0.00002035●●●●●●
1505. 228399680 c.196C>T p.R66C missense 0.00002034●●●●●●
1506. 228401265 c.1112G>C p.R371P missense 0.00002029●●●●●●
1507. 228506729 c.14276G>A p.S4759N missense 0.00002025●●●●●●
1508. 228522221 c.16063G>A p.E5355K missense 0.00002023●●●●●●
1509. 228495178 c.12412G>A p.E4138K missense 0.00002022●●●●●●
1510. 228474654 c.9458T>C p.L3153P missense 0.00002021●●●●●●
1511. 228547339 c.18746A>G p.Q6249R missense 0.00002020●●●●●●
1512. 228509724 c.15182G>A p.R5061H missense 0.00002013●●●●●●
1513. 228509724 c.15182G>T p.R5061L missense 0.00002013●●●●●●
1514. 228463584 c.6077C>T p.A2026V missense 0.00002010●●●●●●
1515. 228494709 c.12034C>T p.R4012C missense 0.00002010●●●●●●
1516. 228547369 c.18776G>T p.R6259L missense 0.00002006●●●●●●
1517. 228461674 c.5341G>A p.A1781T missense 0.00001999●●●●●●
1518. 228509706 c.15164A>C p.E5055A missense 0.00001996●●●●●●
1519. 228494710 c.12035G>A p.R4012H missense 0.00001995●●●●●●
1520. 228496904 c.12844C>T p.R4282C missense 0.00001994●●●●●●
1521. 228509747 c.15205C>T p.R5069C missense 0.00001983●●●●●●
1522. 228547345 c.18752G>C p.R6251P missense 0.00001982●●●●●●
1523. 228463590 c.6083C>T p.A2028V missense 0.00001975●●●●●●
1524. 228461677 c.5344C>A p.Q1782K missense 0.00001971●●●●●●
1525. 228462357 c.5768C>G p.S1923C missense 0.00001967●●●●●●
1526. 228462357 c.5768C>T p.S1923F missense 0.00001967●●●●●●
1527. 228463593 c.6086C>T p.P2029L missense 0.00001965●●●●●●
1528. 228463592 c.6085C>T p.P2029S missense 0.00001964●●●●●●
1529. 228528808 c.17710G>A p.V5904M missense 0.00001964●●●●●●
1530. 228401279 c.1126G>A p.A376T missense 0.00001961●●●●●●
1531. 228403345 c.1910C>T p.T637M missense 0.00001960●●●●●●
1532. 228509751 c.15209A>G p.Q5070R missense 0.00001959●●●●●●
1533. 228467698 c.7573C>G p.L2525V missense 0.00001957●●●●●●
1534. 228504485 c.13361C>T p.T4454M missense 0.00001955●●●●●●
1535. 228548193 c.19600C>T p.P6534S missense 0.00001954●●●●●●
1536. 228461551 c.5218G>A p.A1740T missense 0.00001952●●●●●●
1537. 228470863 c.8615A>G p.Y2872C missense 0.00001952●●●●●●
1538. 228548432 c.19839T>G p.D6613E missense 0.00001952●●●●●●
1539. 228464385 c.6455G>A p.G2152E missense 0.00001951●●●●●●
1540. 228548239 c.19646G>A p.G6549D missense 0.00001951●●●●●●
1541. 228525660 c.16816G>A p.V5606M missense 0.00001950●●●●●●
1542. 228470857 c.8609A>G p.Q2870R missense 0.00001949●●●●●●
1543. 228474641 c.9445C>T p.R3149W missense 0.00001949●●●●●●
1544. 228548194 c.19601C>T p.P6534L missense 0.00001948●●●●●●
1545. 228463596 c.6089G>A p.G2030E missense 0.00001946●●●●●●
1546. 228509678 c.15136G>A p.A5046T missense 0.00001938●●●●●●
1547. 228525002 c.16718C>T p.S5573F missense 0.00001936●●●●●●
1548. 228509762 c.15220C>T p.R5074C missense 0.00001933●●●●●●
1549. 228525007 c.16723C>A p.R5575S missense 0.00001931●●●●●●
1550. 228525017 c.16733G>A p.R5578Q missense 0.00001928●●●●●●
1551. 228509676 c.15134C>A p.P5045H missense 0.00001926●●●●●●
1552. 228528446 c.17554C>T p.R5852W missense 0.00001924●●●●●●
1553. 228525076 c.16792C>T p.R5598X nonsense 0.00001923●●●●●●
1554. 228525022 c.16738C>T p.R5580W missense 0.00001921●●●●●●
1555. 228468132 c.7916G>A p.R2639H missense 0.00001914●●●●●●
1556. 228525011 c.16727A>G p.H5576R missense 0.00001913●●●●●●
1557. 228548257 c.19664G>C p.R6555P missense 0.00001912●●●●●●
1558. 228467563 c.7438delG p.Arg2481ValfsTer36 frameshift 0.00001911●●●●●●
1559. 228464949 c.6689C>T p.A2230V missense 0.00001910●●●●●●
1560. 228473998 c.9224C>A p.T3075N missense 0.00001910●●●●●●
1561. 228529842 c.18057G>T p.E6019D missense 0.00001910●●●●●●
1562. 228524990 c.16706C>T p.T5569I missense 0.00001909●●●●●●
1563. 228473796 c.9022A>G p.I3008V missense 0.00001908●●●●●●
1564. 228525035 c.16751G>A p.S5584N missense 0.00001908●●●●●●
1565. 228503716 c.13181G>T p.G4394V missense 0.00001906●●●●●●
1566. 228548401 c.19808C>T p.T6603M missense 0.00001900●●●●●●
1567. 228467981 c.7765G>A p.E2589K missense 0.00001897●●●●●●
1568. 228529901 c.18116G>A p.G6039D missense 0.00001896●●●●●●
1569. 228547612 c.19019G>A p.G6340D missense 0.00001893●●●●●●
1570. 228496800 c.12740C>T p.A4247V missense 0.00001890●●●●●●
1571. 228548392 c.19799T>G p.V6600G missense 0.00001890●●●●●●
1572. 228548393 c.19800delG p.Glu6602ArgfsTer132 frameshift 0.00001890●●●●●●
1573. 228548391 c.19798_19799insC p.Val6600AlafsTer17 frameshift 0.00001887●●●●●●
1574. 228504455 c.13331G>A p.R4444Q missense 0.00001881●●●●●●
1575. 228548384 c.19791C>G p.F6597L missense 0.00001881●●●●●●
1576. 228464295 c.6365G>T p.C2122F missense 0.00001880●●●●●●
1577. 228548163 c.19570C>T p.R6524X nonsense 0.00001879●●●●●●
1578. 228506834 c.14381G>T p.R4794L missense 0.00001871●●●●●●
1579. 228474630 c.9434A>T p.H3145L missense 0.00001868●●●●●●
1580. 228494343 c.11926+4G>A splice site 0.00001867●●●●●●
1581. 228464292 c.6362C>T p.T2121M missense 0.00001866●●●●●●
1582. 228474734 c.9538G>T p.V3180L missense 0.00001866●●●●●●
1583. 228496009 c.12664G>A p.V4222M missense 0.00001863●●●●●●
1584. 228504463 c.13339G>A p.A4447T missense 0.00001860●●●●●●
1585. 228461707 c.5374C>T p.R1792C missense 0.00001854●●●●●●
1586. 228525688 c.16844G>C p.G5615A missense 0.00001853●●●●●●
1587. 228548314 c.19721G>A p.R6574H missense 0.00001850●●●●●●
1588. 228525690 c.16846G>T p.A5616S missense 0.00001849●●●●●●
1589. 228548320 c.19727G>A p.R6576Q missense 0.00001849●●●●●●
1590. 228509138 c.14596G>C p.D4866H missense 0.00001848●●●●●●
1591. 228461708 c.5375G>A p.R1792H missense 0.00001848●●●●●●
1592. 228509117 c.14575C>A p.L4859M missense 0.00001847●●●●●●
1593. 228548302 c.19709C>T p.S6570F missense 0.00001842●●●●●●
1594. 228509193 c.14651A>C p.K4884T missense 0.00001840●●●●●●
1595. 228525694 c.16850A>T p.E5617V missense 0.00001838●●●●●●
1596. 228525844 c.17000A>G p.K5667R missense 0.00001837●●●●●●
1597. 228511247 c.15592C>A p.R5198S missense 0.00001835●●●●●●
1598. 228467514 c.7397-8delC splice site 0.00001832●●●●●●
1599. 228528417 c.17533-8G>A splice site 0.00001832●●●●●●
1600. 228464961 c.6701T>C p.V2234A missense 0.00001829●●●●●●
1601. 228525703 c.16859C>A p.A5620D missense 0.00001827●●●●●●
1602. 228468467 c.8167G>A p.E2723K missense 0.00001825●●●●●●
1603. 228511269 c.15614T>C p.M5205T missense 0.00001825●●●●●●
1604. 228547864 c.19271T>G p.M6424R missense 0.00001825●●●●●●
1605. 228522254 c.16087+9G>A splice site 0.00001822●●●●●●
1606. 228464281 c.6351G>T p.Q2117H missense 0.00001820●●●●●●
1607. 228547450 c.18857A>G p.Q6286R missense 0.00001820●●●●●●
1608. 228495169 c.12403G>A p.D4135N missense 0.00001817●●●●●●
1609. 228474731 c.9535A>G p.R3179G missense 0.00001813●●●●●●
1610. 228525720 c.16876G>T p.G5626C missense 0.00001811●●●●●●
1611. 228524738 c.16571A>G p.H5524R missense 0.00001808●●●●●●
1612. 228548150 c.19557T>A p.H6519Q missense 0.00001807●●●●●●
1613. 228464159 c.6229G>C p.V2077L missense 0.00001803●●●●●●
1614. 228529849 c.18064G>A p.D6022N missense 0.00001800●●●●●●
1615. 228505163 c.13562-2A>C essential splice site 0.00001800●●●●●●
1616. 228520925 c.15757A>G p.T5253A missense 0.00001795●●●●●●
1617. 228511029 c.15374C>T p.A5125V missense 0.00001793●●●●●●
1618. 228404715 c.2379C>T splice site 0.00001786●●●●●●
1619. 228464147 c.6221-4G>A splice site 0.00001782●●●●●●
1620. 228467707 c.7582C>T p.L2528F missense 0.00001780●●●●●●
1621. 228404716 c.2380C>T p.L794F missense 0.00001777●●●●●●
1622. 228464153 c.6223C>T p.R2075C missense 0.00001774●●●●●●
1623. 228503709 c.13174G>A p.E4392K missense 0.00001774●●●●●●
1624. 228548137 c.19544T>C p.L6515P missense 0.00001769●●●●●●
1625. 228494181 c.11768G>C p.S3923T missense 0.00001768●●●●●●
1626. 228467542 c.7417C>G p.R2473G missense 0.00001765●●●●●●
1627. 228529154 c.17873T>C p.L5958P missense 0.00001765●●●●●●
1628. 228529315 c.18034C>T p.R6012W missense 0.00001763●●●●●●
1629. 228494301 c.11888G>A p.C3963Y missense 0.00001761●●●●●●
1630. 228505873 c.14130G>C p.Q4710H missense 0.00001758●●●●●●
1631. 228529157 c.17876A>T p.N5959I missense 0.00001757●●●●●●
1632. 228468054 c.7838C>T p.T2613M missense 0.00001754●●●●●●
1633. 228494198 c.11785C>A p.L3929M missense 0.00001750●●●●●●
1634. 228462139 c.5677G>A p.V1893I missense 0.00001746●●●●●●
1635. 228494743 c.12068A>T p.K4023M missense 0.00001746●●●●●●
1636. 228400400 c.916C>T p.R306C missense 0.00001745●●●●●●
1637. 228404983 c.2647G>A p.V883I missense 0.00001745●●●●●●
1638. 228430927 c.2973G>T p.E991D missense 0.00001745●●●●●●
1639. 228467537 c.7412T>G p.L2471R missense 0.00001745●●●●●●
1640. 228479601 c.10342C>T splice site 0.00001743●●●●●●
1641. 228494209 c.11796delT p.Asn3932LysfsTer71 frameshift 0.00001742●●●●●●
1642. 228431145 c.3191G>T p.R1064L missense 0.00001739●●●●●●
1643. 228401880 c.1264C>T p.L422F missense 0.00001729●●●●●●
1644. 228401880 c.1264C>G p.L422V missense 0.00001729●●●●●●
1645. 228529172 c.17891G>A p.G5964E missense 0.00001729●●●●●●
1646. 228524702 c.16538-3C>G splice site 0.00001729●●●●●●
1647. 228402556 c.1585G>A p.V529M missense 0.00001728●●●●●●
1648. 228464273 c.6343C>T p.R2115W missense 0.00001727●●●●●●
1649. 228404974 c.2638C>T p.R880W missense 0.00001726●●●●●●
1650. 228461495 c.5162G>C p.R1721T missense 0.00001724●●●●●●
1651. 228509840 c.15298A>T p.M5100L missense 0.00001723●●●●●●
1652. 228400310 c.826C>T p.Q276X nonsense 0.00001720●●●●●●
1653. 228464235 c.6305A>C p.H2102P missense 0.00001720●●●●●●
1654. 228527773 c.17386G>A p.V5796I missense 0.00001720●●●●●●
1655. 228528567 c.17675C>T p.A5892V missense 0.00001720●●●●●●
1656. 228548107 c.19514G>A p.G6505E missense 0.00001719●●●●●●
1657. 228528868 c.17770C>T p.L5924F missense 0.00001717●●●●●●
1658. 228400331 c.847C>A p.R283S missense 0.00001716●●●●●●
1659. 228400344 c.860A>G p.Y287C missense 0.00001714●●●●●●
1660. 228400356 c.872_874delAGG p.Glu292del inframe 0.00001712●●●●●●
1661. 228402593 c.1622G>A p.R541H missense 0.00001711●●●●●●
1662. 228494965 c.12199A>G p.R4067G missense 0.00001711●●●●●●
1663. 228529189 c.17908G>A p.E5970K missense 0.00001711●●●●●●
1664. 228469871 c.8435G>A p.R2812Q missense 0.00001710●●●●●●
1665. 228468426 c.8126G>A p.S2709N missense 0.00001708●●●●●●
1666. 228494983 c.12217C>T p.R4073W missense 0.00001706●●●●●●
1667. 228461887 c.5425G>A p.A1809T missense 0.00001706●●●●●●
1668. 228402604 c.1633A>G p.I545V missense 0.00001706●●●●●●
1669. 228402610 c.1639G>A p.G547S missense 0.00001705●●●●●●
1670. 228468422 c.8122G>A p.V2708M missense 0.00001705●●●●●●
1671. 228548086 c.19493C>T p.S6498L missense 0.00001704●●●●●●
1672. 228529240 c.17959C>T p.R5987W missense 0.00001703●●●●●●
1673. 228433109 c.3482-5C>G splice site 0.00001702●●●●●●
1674. 228469645 c.8209G>A p.G2737S missense 0.00001702●●●●●●
1675. 228469834 c.8398G>A p.A2800T missense 0.00001702●●●●●●
1676. 228495929 c.12584A>G p.Q4195R missense 0.00001702●●●●●●
1677. 228456224 c.4862-7T>C splice site 0.00001701●●●●●●
1678. 228402634 c.1663C>T p.L555F missense 0.00001701●●●●●●
1679. 228402691 c.1720C>G p.L574V missense 0.00001700●●●●●●
1680. 228402631 c.1660A>C p.K554Q missense 0.00001700●●●●●●
1681. 228404740 c.2404A>G p.M802V missense 0.00001700●●●●●●
1682. 228548074 c.19481C>G p.P6494R missense 0.00001700●●●●●●
1683. 228494993 c.12227G>T p.S4076I missense 0.00001699●●●●●●
1684. 228548066 c.19473T>A p.D6491E missense 0.00001699●●●●●●
1685. 228434498 c.4027G>A p.V1343I missense 0.00001698●●●●●●
1686. 228468410 c.8110G>A p.V2704M missense 0.00001698●●●●●●
1687. 228547896 c.19303G>A p.G6435R missense 0.00001697●●●●●●
1688. 228461923 c.5461G>A p.E1821K missense 0.00001695●●●●●●
1689. 228509912 c.15370G>A p.A5124T missense 0.00001695●●●●●●
1690. 228524755 c.16588G>A p.V5530M missense 0.00001695●●●●●●
1691. 228469648 c.8212A>G p.I2738V missense 0.00001694●●●●●●
1692. 228528909 c.17811C>G p.D5937E missense 0.00001694●●●●●●
1693. 228404755 c.2419G>A p.V807M missense 0.00001693●●●●●●
1694. 228431127 c.3173G>T p.G1058V missense 0.00001693●●●●●●
1695. 228474582 c.9386C>G p.T3129S missense 0.00001693●●●●●●
1696. 228402025 c.1409C>T p.A470V missense 0.00001693●●●●●●
1697. 228468401 c.8101C>T p.R2701W missense 0.00001692●●●●●●
1698. 228461938 c.5476G>A p.V1826M missense 0.00001691●●●●●●
1699. 228495982 c.12637C>T p.R4213C missense 0.00001691●●●●●●
1700. 228548044 c.19451G>A p.G6484D missense 0.00001691●●●●●●
1701. 228462110 c.5648G>C p.R1883P missense 0.00001690●●●●●●
1702. 228467945 c.7729T>G p.F2577V missense 0.00001689●●●●●●
1703. 228548038 c.19445G>A p.C6482Y missense 0.00001689●●●●●●
1704. 228404950 c.2614G>A p.V872M missense 0.00001688●●●●●●
1705. 228505634 c.13891G>C p.E4631Q missense 0.00001687●●●●●●
1706. 228404764 c.2428G>A p.V810M missense 0.00001686●●●●●●
1707. 228461972 c.5510C>A p.A1837E missense 0.00001684●●●●●●
1708. 228466410 c.6880C>G p.R2294G missense 0.00001683●●●●●●
1709. 228471449 c.8983C>T p.R2995W missense 0.00001682●●●●●●
1710. 228434221 c.3758-8delA splice site 0.00001682●●●●●●
1711. 228529863 c.18078G>T p.E6026D missense 0.00001682●●●●●●
1712. 228412161 c.2655G>A p.E885E splice site 0.00001681●●●●●●
1713. 228467067 c.7318C>T p.R2440W missense 0.00001681●●●●●●
1714. 228469753 c.8317G>A p.G2773S missense 0.00001681●●●●●●
1715. 228404933 c.2597G>A p.G866D missense 0.00001680●●●●●●
1716. 228465542 c.6842C>T p.A2281V missense 0.00001680●●●●●●
1717. 228404927 c.2591A>T p.D864V missense 0.00001679●●●●●●
1718. 228481299 c.11113G>T p.A3705S missense 0.00001679●●●●●●
1719. 228456314 c.4945G>A p.E1649K missense 0.00001678●●●●●●
1720. 228456473 c.5104G>C p.G1702R missense 0.00001678●●●●●●
1721. 228474569 c.9373C>G p.P3125A missense 0.00001678●●●●●●
1722. 228434223 c.3758-6C>T splice site 0.00001677●●●●●●
1723. 228404896 c.2560C>T p.R854W missense 0.00001677●●●●●●
1724. 228452065 c.4834C>T p.R1612W missense 0.00001677●●●●●●
1725. 228462008 c.5546G>A p.R1849Q missense 0.00001677●●●●●●
1726. 228465538 c.6838C>G p.R2280G missense 0.00001677●●●●●●
1727. 228475396 c.9546G>A splice site 0.00001677●●●●●●
1728. 228505641 c.13898G>A p.R4633Q missense 0.00001676●●●●●●
1729. 228444621 c.4579G>A p.V1527M missense 0.00001676●●●●●●
1730. 228463527 c.6020T>A p.L2007Q missense 0.00001676●●●●●●
1731. 228467883 c.7667G>T p.R2556L missense 0.00001676●●●●●●
1732. 228475400 c.9550C>A p.P3184T missense 0.00001675●●●●●●
1733. 228434478 c.4007G>A p.R1336Q missense 0.00001675●●●●●●
1734. 228495917 c.12572A>G p.Q4191R missense 0.00001675●●●●●●
1735. 228456449 c.5080G>A p.G1694R missense 0.00001674●●●●●●
1736. 228466927 c.7178C>G p.P2393R missense 0.00001674●●●●●●
1737. 228503701 c.13166T>C p.V4389A missense 0.00001674●●●●●●
1738. 228529882 c.18097C>G p.L6033V missense 0.00001674●●●●●●
1739. 228547948 c.19355G>T p.R6452L missense 0.00001674●●●●●●
1740. 228547968 c.19375C>T p.H6459Y missense 0.00001674●●●●●●
1741. 228547951 c.19358_19359insC p.Lys6455GlnfsTer14 frameshift 0.00001674●●●●●●
1742. 228526078 c.17084+5G>A splice site 0.00001673●●●●●●
1743. 228520590 c.15682G>T p.D5228Y missense 0.00001673●●●●●●
1744. 228402126 c.1510T>G p.C504G missense 0.00001672●●●●●●
1745. 228444615 c.4573C>A p.L1525M missense 0.00001672●●●●●●
1746. 228469732 c.8296G>A p.D2766N missense 0.00001672●●●●●●
1747. 228430996 c.3042G>A p.M1014I missense 0.00001672●●●●●●
1748. 228456428 c.5059C>T p.Q1687X nonsense 0.00001672●●●●●●
1749. 228469731 c.8295C>G p.S2765R missense 0.00001672●●●●●●
1750. 228402048 c.1432A>G p.T478A missense 0.00001671●●●●●●
1751. 228474467 c.9278-7C>G splice site 0.00001671●●●●●●
1752. 228466662 c.7126+6G>T splice site 0.00001670●●●●●●
1753. 228469720 c.8284G>A p.E2762K missense 0.00001669●●●●●●
1754. 228467022 c.7273G>A p.V2425M missense 0.00001669●●●●●●
1755. 228503701 c.13166_13168delTCT p.Phe4391del inframe 0.00001669●●●●●●
1756. 228468365 c.8065A>G p.S2689G missense 0.00001668●●●●●●
1757. 228471392 c.8926G>T p.A2976S missense 0.00001668●●●●●●
1758. 228466530 c.7000A>G p.K2334E missense 0.00001667●●●●●●
1759. 228466438 c.6908A>G p.E2303G missense 0.00001667●●●●●●
1760. 228466449 c.6919G>A p.G2307S missense 0.00001667●●●●●●
1761. 228469669 c.8233A>G p.M2745V missense 0.00001667●●●●●●
1762. 228471231 c.8765T>C p.L2922P missense 0.00001667●●●●●●
1763. 228469674 c.8238G>T p.E2746D missense 0.00001666●●●●●●
1764. 228456386 c.5017C>T p.R1673C missense 0.00001666●●●●●●
1765. 228471255 c.8789A>G p.K2930R missense 0.00001666●●●●●●
1766. 228481078 c.10892G>T p.G3631V missense 0.00001666●●●●●●
1767. 228474485 c.9289G>A p.V3097I missense 0.00001665●●●●●●
1768. 228431990 c.3206-7C>T splice site 0.00001665●●●●●●
1769. 228452027 c.4796C>T p.A1599V missense 0.00001665●●●●●●
1770. 228456372 c.5003C>A p.S1668Y missense 0.00001665●●●●●●
1771. 228469705 c.8269T>C p.C2757R missense 0.00001665●●●●●●
1772. 228509429 c.14887C>A p.R4963S missense 0.00001665●●●●●●
1773. 228509430 c.14888G>C p.R4963P missense 0.00001665●●●●●●
1774. 228524822 c.16655C>T p.T5552M missense 0.00001665●●●●●●
1775. 228431990 c.3206-7C>A splice site 0.00001665●●●●●●
1776. 228475448 c.9598G>A p.G3200S missense 0.00001664●●●●●●
1777. 228468285 c.7985G>A p.G2662D missense 0.00001664●●●●●●
1778. 228433353 c.3721G>A p.G1241R missense 0.00001663●●●●●●
1779. 228527731 c.17344C>G p.L5782V missense 0.00001663●●●●●●
1780. 228437914 c.4282C>T p.R1428W missense 0.00001663●●●●●●
1781. 228437915 c.4283G>A p.R1428Q missense 0.00001663●●●●●●
1782. 228474495 c.9299G>A p.R3100Q missense 0.00001663●●●●●●
1783. 228496881 c.12821C>T p.S4274F missense 0.00001663●●●●●●
1784. 228527737 c.17350T>G p.F5784V missense 0.00001663●●●●●●
1785. 228474519 c.9323C>T p.T3108I missense 0.00001662●●●●●●
1786. 228475607 c.9757C>T p.R3253W missense 0.00001662●●●●●●
1787. 228479643 c.10384G>A p.V3462M missense 0.00001662●●●●●●
1788. 228451889 c.4658C>T p.T1553M missense 0.00001662●●●●●●
1789. 228451997 c.4766G>A p.R1589Q missense 0.00001662●●●●●●
1790. 228466596 c.7066G>A p.E2356K missense 0.00001662●●●●●●
1791. 228468320 c.8020G>A p.E2674K missense 0.00001662●●●●●●
1792. 228475602 c.9752G>C p.S3251T missense 0.00001662●●●●●●
1793. 228475467 c.9617G>T p.C3206F missense 0.00001661●●●●●●
1794. 228431058 c.3104G>A p.C1035Y missense 0.00001661●●●●●●
1795. 228431064 c.3110G>A p.R1037Q missense 0.00001661●●●●●●
1796. 228437905 c.4273G>A p.G1425R missense 0.00001661●●●●●●
1797. 228444553 c.4511C>T p.A1504V missense 0.00001661●●●●●●
1798. 228444573 c.4531G>A p.E1511K missense 0.00001661●●●●●●
1799. 228475593 c.9743C>T p.P3248L missense 0.00001661●●●●●●
1800. 228475782 c.9832G>A p.G3278R missense 0.00001661●●●●●●
1801. 228475968 c.10018G>A p.A3340T missense 0.00001661●●●●●●
1802. 228497266 c.13012+6C>A splice site 0.00001661●●●●●●
1803. 228527643 c.17259-3C>T splice site 0.00001661●●●●●●
1804. 228497255 c.13007T>C p.V4336A missense 0.00001660●●●●●●
1805. 228434425 c.3954G>T p.Q1318H missense 0.00001660●●●●●●
1806. 228432239 c.3448G>A p.G1150S missense 0.00001660●●●●●●
1807. 228444435 c.4393G>A p.E1465K missense 0.00001660●●●●●●
1808. 228451850 c.4619C>T p.A1540V missense 0.00001660●●●●●●
1809. 228451984 c.4753G>C p.V1585L missense 0.00001660●●●●●●
1810. 228475479 c.9629C>T p.S3210F missense 0.00001660●●●●●●
1811. 228480239 c.10619T>G p.F3540C missense 0.00001660●●●●●●
1812. 228497258 c.13010C>A p.T4337K missense 0.00001660●●●●●●
1813. 228527689 c.17302G>A p.A5768T missense 0.00001660●●●●●●
1814. 228451964 c.4733C>T p.S1578L missense 0.00001659●●●●●●
1815. 228451972 c.4741C>T p.R1581X nonsense 0.00001659●●●●●●
1816. 228475548 c.9698G>T p.R3233L missense 0.00001659●●●●●●
1817. 228475515 c.9665A>G p.N3222S missense 0.00001659●●●●●●
1818. 228432056 c.3265G>A p.G1089R missense 0.00001659●●●●●●
1819. 228437703 c.4071C>G p.H1357Q missense 0.00001659●●●●●●
1820. 228437747 c.4115G>A p.C1372Y missense 0.00001659●●●●●●
1821. 228480245 c.10625A>C p.E3542A missense 0.00001659●●●●●●
1822. 228444369 c.4327G>A p.A1443T missense 0.00001658●●●●●●
1823. 228479681 c.10422C>A p.S3474R missense 0.00001658●●●●●●
1824. 228495848 c.12503C>G p.A4168G missense 0.00001658●●●●●●
1825. 228497213 c.12965G>A p.S4322N missense 0.00001658●●●●●●
1826. 228497224 c.12976G>C p.G4326R missense 0.00001658●●●●●●
1827. 228505777 c.14034G>T p.Q4678H missense 0.00001658●●●●●●
1828. 228444456 c.4414_4418delGAGGT p.Glu1472AspfsTer74 frameshift 0.00001658●●●●●●
1829. 228434441 c.3970G>C p.D1324H missense 0.00001657●●●●●●
1830. 228475818 c.9868A>G p.T3290A missense 0.00001657●●●●●●
1831. 228523954 c.16520T>C p.L5507P missense 0.00001657●●●●●●
1832. 228505721 c.13978A>G p.M4660V missense 0.00001657●●●●●●
1833. 228437818 c.4186G>A p.V1396I missense 0.00001657●●●●●●
1834. 228481143 c.10957G>C p.A3653P missense 0.00001657●●●●●●
1835. 228412318 c.2812A>G p.M938V missense 0.00001657●●●●●●
1836. 228434420 c.3949G>T p.V1317L missense 0.00001657●●●●●●
1837. 228434453 c.3982T>A p.Y1328N missense 0.00001657●●●●●●
1838. 228437815 c.4183A>G p.K1395E missense 0.00001657●●●●●●
1839. 228437822 c.4190G>A p.R1397Q missense 0.00001657●●●●●●
1840. 228444487 c.4445T>C p.L1482P missense 0.00001657●●●●●●
1841. 228475923 c.9973G>C p.A3325P missense 0.00001657●●●●●●
1842. 228476368 c.10118G>A p.S3373N missense 0.00001657●●●●●●
1843. 228481258 c.11072C>T p.A3691V missense 0.00001657●●●●●●
1844. 228496055 c.12710A>G p.H4237R missense 0.00001657●●●●●●
1845. 228505722 c.13979T>A p.M4660K missense 0.00001657●●●●●●
1846. 228505751 c.14008G>A p.E4670K missense 0.00001657●●●●●●
1847. 228505760 c.14017T>A p.S4673T missense 0.00001657●●●●●●
1848. 228432093 c.3302C>T p.A1101V missense 0.00001656●●●●●●
1849. 228434340 c.3869C>T p.T1290M missense 0.00001656●●●●●●
1850. 228434367 c.3896G>C p.S1299T missense 0.00001656●●●●●●
1851. 228479826 c.10567G>A p.G3523R missense 0.00001656●●●●●●
1852. 228482568 c.11483C>T p.A3828V missense 0.00001656●●●●●●
1853. 228482724 c.11639C>T p.S3880L missense 0.00001656●●●●●●
1854. 228543874 c.18684delC p.K6230Rfs*132 frameshift 0.00001656●●●●●●
1855. 228433225 c.3593C>T p.T1198M missense 0.00001656●●●●●●
1856. 228476544 c.10294T>C p.C3432R missense 0.00001656●●●●●●
1857. 228479797 c.10538C>T p.A3513V missense 0.00001656●●●●●●
1858. 228476593 c.10339+4A>G splice site 0.00001656●●●●●●
1859. 228432129 c.3338A>C p.K1113T missense 0.00001656●●●●●●
1860. 228432146 c.3355A>G p.K1119E missense 0.00001656●●●●●●
1861. 228432210 c.3419A>G p.D1140G missense 0.00001656●●●●●●
1862. 228433239 c.3607G>A p.G1203R missense 0.00001656●●●●●●
1863. 228433272 c.3640A>G p.M1214V missense 0.00001656●●●●●●
1864. 228434280 c.3809C>T p.T1270I missense 0.00001656●●●●●●
1865. 228434322 c.3851A>G p.Q1284R missense 0.00001656●●●●●●
1866. 228475902 c.9952T>C p.Y3318H missense 0.00001656●●●●●●
1867. 228476413 c.10163C>T p.A3388V missense 0.00001656●●●●●●
1868. 228476416 c.10166C>T p.A3389V missense 0.00001656●●●●●●
1869. 228479749 c.10490G>A p.R3497K missense 0.00001656●●●●●●
1870. 228479858 c.10599C>G p.I3533M missense 0.00001656●●●●●●
1871. 228480286 c.10666G>C p.V3556L missense 0.00001656●●●●●●
1872. 228480332 c.10712A>G p.K3571R missense 0.00001656●●●●●●
1873. 228480374 c.10754G>A p.R3585K missense 0.00001656●●●●●●
1874. 228480481 c.10861G>C p.V3621L missense 0.00001656●●●●●●
1875. 228481209 c.11023G>A p.D3675N missense 0.00001656●●●●●●
1876. 228481242 c.11056C>T p.L3686F missense 0.00001656●●●●●●
1877. 228481929 c.11208G>T p.E3736D missense 0.00001656●●●●●●
1878. 228482044 c.11323G>A p.A3775T missense 0.00001656●●●●●●
1879. 228482576 c.11491G>A p.V3831M missense 0.00001656●●●●●●
1880. 228482592 c.11507G>T p.G3836V missense 0.00001656●●●●●●
1881. 228482730 c.11645C>T p.T3882I missense 0.00001656●●●●●●
1882. 228476545 c.10295_10299delGTGTG p.Cys3432LeufsTer26 frameshift 0.00001656●●●●●●
1883. 228479858 c.10599_10601delCAGinsCG p.Arg3534GlyfsTer8 frameshift 0.00001656●●●●●●
1884. 228480484 c.10864_10865delAG p.Arg3622GlyfsTer26 frameshift 0.00001656●●●●●●
1885. 228482752 c.11659+8C>G splice site 0.00001656●●●●●●
1886. 228399660 c.176C>T p.A59V missense 0.00001655●●●●●●
1887. 228529880 c.18095A>C p.K6032T missense 0.00001655●●●●●●
1888. 228520900 c.15732C>A p.S5244R missense 0.00001649●●●●●●
1889. 228464370 c.6440T>C p.V2147A missense 0.00001648●●●●●●
1890. 228468044 c.7828C>T p.R2610W missense 0.00001639●●●●●●
1891. 228495161 c.12395_12396insGGC p.Glu4132_Ala4133insAla inframe 0.00001637●●●●●●
1892. 228506749 c.14296G>T p.G4766C missense 0.00001636●●●●●●
1893. 228506906 c.14453C>T p.T4818I missense 0.00001636●●●●●●
1894. 228529868 c.18083G>A p.G6028D missense 0.00001632●●●●●●
1895. 228529870 c.18085G>A p.E6029K missense 0.00001631●●●●●●
1896. 228473808 c.9034G>C p.E3012Q missense 0.00001630●●●●●●
1897. 228520894 c.15732-6T>C splice site 0.00001625●●●●●●
1898. 228468154 c.7930+8A>G splice site 0.00001624●●●●●●
1899. 228463529 c.6022G>C p.E2008Q missense 0.00001616●●●●●●
1900. 228463674 c.6167T>G p.F2056C missense 0.00001606●●●●●●
1901. 228496052 c.12707A>G p.N4236S missense 0.00001601●●●●●●
1902. 228464367 c.6437T>C p.M2146T missense 0.00001595●●●●●●
1903. 228547530 c.18937C>G p.P6313A missense 0.00001587●●●●●●
1904. 228547530 c.18937C>T p.P6313S missense 0.00001587●●●●●●
1905. 228547545 c.18952_18953delCT p.Ser6319GlyfsTer14 frameshift 0.00001586●●●●●●
1906. 228547531 c.18938C>G p.P6313R missense 0.00001584●●●●●●
1907. 228547555 c.18962_18965delCCCA p.Pro6321ArgfsTer15 frameshift 0.00001584●●●●●●
1908. 228547555 c.18962C>T p.P6321L missense 0.00001583●●●●●●
1909. 228495156 c.12390A>C p.Q4130H missense 0.00001578●●●●●●
1910. 228506752 c.14299C>G p.R4767G missense 0.00001576●●●●●●
1911. 228547477 c.18884G>A p.G6295D missense 0.00001576●●●●●●
1912. 228494065 c.11660-8C>T splice site 0.00001568●●●●●●
1913. 228468042 c.7826G>C p.G2609A missense 0.00001558●●●●●●
1914. 228547510 c.18917C>T p.T6306M missense 0.00001554●●●●●●
1915. 228399654 c.170G>A p.R57H missense 0.00001551●●●●●●
1916. 228494067 c.11660-6C>G splice site 0.00001550●●●●●●
1917. 228521366 c.15939G>T p.K5313N missense 0.00001549●●●●●●
1918. 228506753 c.14300G>A p.R4767H missense 0.00001545●●●●●●
1919. 228400187 c.703G>A p.A235T missense 0.00001541●●●●●●
1920. 228399653 c.169C>T p.R57C missense 0.00001534●●●●●●
1921. 228496815 c.12755T>C p.I4252T missense 0.00001533●●●●●●
1922. 228547505 c.18912delT p.Tyr6304Ter frameshift 0.00001531●●●●●●
1923. 228547497 c.18904A>T p.T6302S missense 0.00001524●●●●●●
1924. 228468037 c.7821C>A p.H2607Q missense 0.00001516●●●●●●
1925. 228506902 c.14449G>A p.V4817I missense 0.00001516●●●●●●
1926. 228521360 c.15933C>G p.D5311E missense 0.00001513●●●●●●
1927. 228467717 c.7592_7595delTGCC p.Pro2532LeufsTer26 frameshift 0.00001512●●●●●●
1928. 228464912 c.6652G>C p.A2218P missense 0.00001509●●●●●●
1929. 228464912 c.6652G>A p.A2218T missense 0.00001509●●●●●●
1930. 228547803 c.19210G>A p.A6404T missense 0.00001503●●●●●●
1931. 228547804 c.19211C>T p.A6404V missense 0.00001490●●●●●●
1932. 228521334 c.15907G>C p.A5303P missense 0.00001465●●●●●●
1933. 228399644 c.160G>A p.A54T missense 0.00001464●●●●●●
1934. 228496850 c.12790G>C p.G4264R missense 0.00001460●●●●●●
1935. 228525989 c.17002-2A>G essential splice site 0.00001452●●●●●●
1936. 228524710 c.16543C>T p.P5515S missense 0.00001449●●●●●●
1937. 228403382 c.1947G>C p.Q649H missense 0.00001448●●●●●●
1938. 228464355 c.6425A>C p.D2142A missense 0.00001437●●●●●●
1939. 228464355 c.6425A>T p.D2142V missense 0.00001437●●●●●●
1940. 228399641 c.157G>A p.G53S missense 0.00001422●●●●●●
1941. 228467722 c.7597G>A p.A2533T missense 0.00001418●●●●●●
1942. 228463539 c.6032T>C p.L2011P missense 0.00001417●●●●●●
1943. 228463667 c.6160C>G p.R2054G missense 0.00001417●●●●●●
1944. 228464351 c.6421G>A p.E2141K missense 0.00001404●●●●●●
1945. 228473975 c.9201G>C p.Q3067H missense 0.00001397●●●●●●
1946. 228464916 c.6656G>T p.C2219F missense 0.00001396●●●●●●
1947. 228496832 c.12772G>T p.D4258Y missense 0.00001383●●●●●●
1948. 228473828 c.9054G>C p.E3018D missense 0.00001383●●●●●●
1949. 228468030 c.7814T>G p.I2605S missense 0.00001366●●●●●●
1950. 228463542 c.6035C>T p.T2012M missense 0.00001361●●●●●●
1951. 228463664 c.6157G>A p.D2053N missense 0.00001355●●●●●●
1952. 228504541 c.13417G>C p.V4473L missense 0.00001355●●●●●●
1953. 228526041 c.17052_17053delTG p.Ser5686Ter frameshift 0.00001354●●●●●●
1954. 228403399 c.1964G>A p.S655N missense 0.00001353●●●●●●
1955. 228400473 c.988+1G>T essential splice site 0.00001339●●●●●●
1956. 228495136 c.12370C>T p.R4124W missense 0.00001338●●●●●●
1957. 228526037 c.17048A>C p.E5683A missense 0.00001338●●●●●●
1958. 228526037 c.17048A>T p.E5683V missense 0.00001338●●●●●●
1959. 228399633 c.149T>G p.V50G missense 0.00001331●●●●●●
1960. 228403405 c.1970A>T p.Y657F missense 0.00001331●●●●●●
1961. 228399632 c.148G>A p.V50M missense 0.00001330●●●●●●
1962. 228463544 c.6037C>T p.R2013W missense 0.00001330●●●●●●
1963. 228494091 c.11678G>A p.R3893Q missense 0.00001326●●●●●●
1964. 228464346 c.6416G>A p.R2139Q missense 0.00001325●●●●●●
1965. 228506762 c.14309G>T p.R4770L missense 0.00001325●●●●●●
1966. 228400472 c.988G>C p.E330Q missense 0.00001317●●●●●●
1967. 228400472 c.988G>A p.E330K missense 0.00001317●●●●●●
1968. 228495134 c.12368C>T p.T4123M missense 0.00001314●●●●●●
1969. 228526012 c.17023G>C p.A5675P missense 0.00001311●●●●●●
1970. 228403423 c.1988G>A p.R663H missense 0.00001300●●●●●●
1971. 228467732 c.7607G>T p.G2536V missense 0.00001299●●●●●●
1972. 228403426 c.1991C>T p.T664I missense 0.00001280●●●●●●
1973. 228467734 c.7609G>T p.V2537F missense 0.00001278●●●●●●
1974. 228494097 c.11684C>G p.P3895R missense 0.00001270●●●●●●
1975. 228524716 c.16549G>C p.A5517P missense 0.00001268●●●●●●
1976. 228464922 c.6662G>A p.S2221N missense 0.00001267●●●●●●
1977. 228463659 c.6152T>G p.F2051C missense 0.00001256●●●●●●
1978. 228511061 c.15406G>C p.E5136Q missense 0.00001255●●●●●●
1979. 228495130 c.12364G>T p.A4122S missense 0.00001252●●●●●●
1980. 228473965 c.9191C>T p.T3064I missense 0.00001243●●●●●●
1981. 228400194 c.710C>G p.A237G missense 0.00001242●●●●●●
1982. 228468014 c.7798G>A p.D2600N missense 0.00001235●●●●●●
1983. 228503670 c.13135C>G p.P4379A missense 0.00001230●●●●●●
1984. 228503673 c.13138G>C p.V4380L missense 0.00001228●●●●●●
1985. 228399552 c.68T>G p.V23G missense 0.00001228●●●●●●
1986. 228503671 c.13136C>T p.P4379L missense 0.00001228●●●●●●
1987. 228399499 c.15G>C p.Q5H missense 0.00001227●●●●●●
1988. 228506888 c.14435G>T p.G4812V missense 0.00001227●●●●●●
1989. 228399500 c.16T>A p.F6I missense 0.00001226●●●●●●
1990. 228462279 c.5690G>A p.R1897Q missense 0.00001226●●●●●●
1991. 228503674 c.13139T>C p.V4380A missense 0.00001226●●●●●●
1992. 228503628 c.13093C>T p.Q4365X nonsense 0.00001223●●●●●●
1993. 228464337 c.6407C>A p.S2136X nonsense 0.00001220●●●●●●
1994. 228464337 c.6407C>G p.S2136W missense 0.00001220●●●●●●
1995. 228399495 c.11_12delCA p.Gln5ValfsTer31 frameshift 0.00001217●●●●●●
1996. 228462536 c.5947G>T p.V1983F missense 0.00001216●●●●●●
1997. 228511068 c.15413A>G p.Q5138R missense 0.00001206●●●●●●
1998. 228399562 c.78C>A p.D26E missense 0.00001204●●●●●●
1999. 228399563 c.79G>A p.A27T missense 0.00001203●●●●●●
2000. 228503613 c.13078G>C p.E4360Q missense 0.00001203●●●●●●
2001. 228503613 c.13078G>A p.E4360K missense 0.00001203●●●●●●
2002. 228524719 c.16552G>A p.A5518T missense 0.00001194●●●●●●
2003. 228504526 c.13402A>T p.I4468F missense 0.00001189●●●●●●
2004. 228403455 c.2020C>A p.P674T missense 0.00001187●●●●●●
2005. 228403458 c.2023G>A p.A675T missense 0.00001186●●●●●●
2006. 228503599 c.13064G>T p.G4355V missense 0.00001184●●●●●●
2007. 228503599 c.13064G>A p.G4355D missense 0.00001184●●●●●●
2008. 228473959 c.9185T>A p.V3062E missense 0.00001183●●●●●●
2009. 228399614 c.130G>A p.E44K missense 0.00001181●●●●●●
2010. 228503596 c.13061G>A p.G4354D missense 0.00001179●●●●●●
2011. 228528500 c.17608C>G p.L5870V missense 0.00001174●●●●●●
2012. 228464334 c.6404T>C p.L2135P missense 0.00001172●●●●●●
2013. 228399572 c.88A>G p.S30G missense 0.00001170●●●●●●
2014. 228403535 c.2095+5G>T splice site 0.00001167●●●●●●
2015. 228495124 c.12358C>A p.Q4120K missense 0.00001164●●●●●●
2016. 228399603 c.119A>G p.Q40R missense 0.00001163●●●●●●
2017. 228473847 c.9073C>T p.R3025C missense 0.00001163●●●●●●
2018. 228528789 c.17698-7C>T splice site 0.00001161●●●●●●
2019. 228399584 c.100G>A p.V34M missense 0.00001160●●●●●●
2020. 228462297 c.5708C>A p.S1903Y missense 0.00001151●●●●●●
2021. 228403528 c.2093G>C p.R698P missense 0.00001145●●●●●●
2022. 228403527 c.2092C>T p.R698W missense 0.00001136●●●●●●
2023. 228464930 c.6670A>G p.I2224V missense 0.00001134●●●●●●
2024. 228474678 c.9482A>G p.D3161G missense 0.00001132●●●●●●
2025. 228403468 c.2033A>G p.H678R missense 0.00001118●●●●●●
2026. 228547831 c.19238C>G p.S6413C missense 0.00001117●●●●●●
2027. 228511086 c.15431G>T p.S5144I missense 0.00001115●●●●●●
2028. 228403470 c.2035G>A p.G679R missense 0.00001114●●●●●●
2029. 228462308 c.5719A>T p.T1907S missense 0.00001110●●●●●●
2030. 228462512 c.5923G>A p.A1975T missense 0.00001107●●●●●●
2031. 228462309 c.5720C>T p.T1907I missense 0.00001106●●●●●●
2032. 228403473 c.2038G>A p.A680T missense 0.00001101●●●●●●
2033. 228494118 c.11705A>C p.E3902A missense 0.00001097●●●●●●
2034. 228468001 c.7785G>A p.M2595I missense 0.00001095●●●●●●
2035. 228504511 c.13387G>A p.E4463K missense 0.00001090●●●●●●
2036. 228504404 c.13286-6C>A splice site 0.00001082●●●●●●
2037. 228504407 c.13286-3C>T splice site 0.00001074●●●●●●
2038. 228403507 c.2072G>A p.S691N missense 0.00001072●●●●●●
2039. 228464937 c.6677delG p.Cys2227AlafsTer22 frameshift 0.00001072●●●●●●
2040. 228403488 c.2053G>C p.V685L missense 0.00001067●●●●●●
2041. 228494124 c.11711G>C p.G3904A missense 0.00001067●●●●●●
2042. 228461596 c.5263G>A p.D1755N missense 0.00001065●●●●●●
2043. 228511097 c.15442G>C p.V5148L missense 0.00001065●●●●●●
2044. 228403492 c.2057C>G p.A686G missense 0.00001063●●●●●●
2045. 228403498 c.2063G>T p.G688V missense 0.00001063●●●●●●
2046. 228524725 c.16558G>A p.E5520K missense 0.00001063●●●●●●
2047. 228403503 c.2068G>A p.E690K missense 0.00001062●●●●●●
2048. 228403494 c.2059A>G p.N687D missense 0.00001061●●●●●●
2049. 228464320 c.6390G>A p.M2130I missense 0.00001047●●●●●●
2050. 228504414 c.13290G>A p.W4430X nonsense 0.00001047●●●●●●
2051. 228506786 c.14333T>G p.V4778G missense 0.00001047●●●●●●
2052. 228511103 c.15448A>T p.T5150S missense 0.00001042●●●●●●
2053. 228464318 c.6388A>G p.M2130V missense 0.00001036●●●●●●
2054. 228494130 c.11717C>T p.T3906M missense 0.00001030●●●●●●
2055. 228525641 c.16801-4T>C splice site 0.00001029●●●●●●
2056. 228473862 c.9088C>T p.P3030S missense 0.00001026●●●●●●
2057. 228506789 c.14336C>A p.A4779E missense 0.00001026●●●●●●
2058. 228430886 c.2932C>G p.P978A missense 0.00001022●●●●●●
2059. 228467756 c.7631G>T p.S2544I missense 0.00001021●●●●●●
2060. 228467756 c.7631G>A p.S2544N missense 0.00001021●●●●●●
2061. 228548449 c.19856A>G p.Q6619R missense 0.00001020●●●●●●
2062. 228548448 c.19855C>T p.Q6619X nonsense 0.00001018●●●●●●
2063. 228468502 c.8197+5G>A splice site 0.00001018●●●●●●
2064. 228462468 c.5879T>C p.L1960P missense 0.00001011●●●●●●
2065. 228511113 c.15458C>G p.P5153R missense 0.00001011●●●●●●
2066. 228461671 c.5338G>A p.G1780S missense 0.00001010●●●●●●
2067. 228474653 c.9457C>T p.L3153F missense 0.00001009●●●●●●
2068. 228400443 c.959C>G p.T320S missense 0.00001008●●●●●●
2069. 228494132 c.11719G>A p.A3907T missense 0.00001008●●●●●●
2070. 228468498 c.8197+1G>A essential splice site 0.00001008●●●●●●
2071. 228461566 c.5233C>A p.P1745T missense 0.00001006●●●●●●
2072. 228468497 c.8197G>A p.D2733N missense 0.00001003●●●●●●
2073. 228511115 c.15460A>G p.M5154V missense 0.00001002●●●●●●
2074. 228473938 c.9164C>G p.A3055G missense 0.00001002●●●●●●
2075. 228473938 c.9164C>T p.A3055V missense 0.00001002●●●●●●
2076. 228464942 c.6682G>A p.E2228K missense 0.00001000●●●●●●
2077. 228509711 c.15169T>C p.F5057L missense 0.00001000●●●●●●
2078. 228509714 c.15172A>G p.I5058V missense 0.00001000●●●●●●
2079. 228511117 c.15462G>A p.M5154I missense 0.00001000●●●●●●
2080. 228494133 c.11720C>A p.A3907D missense 0.00000999●●●●●●
2081. 228462456 c.5867_5868insCAT p.Thr1956_Ile1957insIle inframe 0.00000999●●●●●●
2082. 228494710 c.12035G>T p.R4012L missense 0.00000997●●●●●●
2083. 228509703 c.15161A>G p.D5054G missense 0.00000995●●●●●●
2084. 228509745 c.15203C>A p.A5068D missense 0.00000993●●●●●●
2085. 228462421 c.5832T>G p.F1944L missense 0.00000988●●●●●●
2086. 228548218 c.19625C>T p.P6542L missense 0.00000988●●●●●●
2087. 228548220 c.19627C>A p.Q6543K missense 0.00000988●●●●●●
2088. 228548220 c.19627C>T p.Q6543X nonsense 0.00000988●●●●●●
2089. 228548209 c.19616C>T p.P6539L missense 0.00000987●●●●●●
2090. 228548217 c.19624C>T p.P6542S missense 0.00000987●●●●●●
2091. 228548217 c.19624delC p.Gln6543ArgfsTer191 frameshift 0.00000987●●●●●●
2092. 228495107 c.12341A>G p.K4114R missense 0.00000986●●●●●●
2093. 228402506 c.1535C>T p.P512L missense 0.00000986●●●●●●
2094. 228495107 c.12341A>C p.K4114T missense 0.00000986●●●●●●
2095. 228468489 c.8189G>A p.R2730H missense 0.00000984●●●●●●
2096. 228462413 c.5824G>A p.E1942K missense 0.00000983●●●●●●
2097. 228474644 c.9448G>T p.A3150S missense 0.00000982●●●●●●
2098. 228548202 c.19609G>T p.A6537S missense 0.00000982●●●●●●
2099. 228468488 c.8188C>T p.R2730C missense 0.00000981●●●●●●
2100. 228474642 c.9446G>A p.R3149Q missense 0.00000980●●●●●●
2101. 228528451 c.17559C>A p.N5853K missense 0.00000979●●●●●●
2102. 228509756 c.15214G>T p.V5072L missense 0.00000975●●●●●●
2103. 228525090 c.16800+6C>T splice site 0.00000975●●●●●●
2104. 228525091 c.16800+7G>T splice site 0.00000974●●●●●●
2105. 228462386 c.5797C>T p.R1933W missense 0.00000973●●●●●●
2106. 228462368 c.5779G>A p.V1927M missense 0.00000972●●●●●●
2107. 228511128 c.15473G>T p.R5158L missense 0.00000972●●●●●●
2108. 228548242 c.19649C>T p.T6550I missense 0.00000972●●●●●●
2109. 228509681 c.15139G>A p.D5047N missense 0.00000971●●●●●●
2110. 228525088 c.16800+4G>A splice site 0.00000971●●●●●●
2111. 228463598 c.6091A>C p.K2031Q missense 0.00000970●●●●●●
2112. 228528448 c.17556_17564delGAACAGACA p.Asn5853_Gln5855del inframe 0.00000970●●●●●●
2113. 228548192 c.19599delG p.Glu6533AspfsTer201 frameshift 0.00000970●●●●●●
2114. 228525082 c.16798G>A p.E5600K missense 0.00000967●●●●●●
2115. 228547851 c.19258G>C p.E6420Q missense 0.00000967●●●●●●
2116. 228506857 c.14404C>G p.H4802D missense 0.00000966●●●●●●
2117. 228548175 c.19582G>T p.G6528C missense 0.00000966●●●●●●
2118. 228468482 c.8182C>T p.R2728W missense 0.00000963●●●●●●
2119. 228548421 c.19828C>T p.P6610S missense 0.00000963●●●●●●
2120. 228509675 c.15133C>T p.P5045S missense 0.00000962●●●●●●
2121. 228525667 c.16823C>T p.T5608I missense 0.00000962●●●●●●
2122. 228547853 c.19260delG p.Glu6421ArgfsTer19 frameshift 0.00000962●●●●●●
2123. 228525016 c.16732C>T p.R5578X nonsense 0.00000961●●●●●●
2124. 228464948 c.6688G>A p.A2230T missense 0.00000961●●●●●●
2125. 228506855 c.14402C>T p.S4801L missense 0.00000961●●●●●●
2126. 228461689 c.5356A>G p.S1786G missense 0.00000959●●●●●●
2127. 228525020 c.16736C>G p.S5579X nonsense 0.00000959●●●●●●
2128. 228468479 c.8179G>A p.A2727T missense 0.00000958●●●●●●
2129. 228525025 c.16741C>T p.P5581S missense 0.00000958●●●●●●
2130. 228473874 c.9100G>A p.E3034K missense 0.00000957●●●●●●
2131. 228528813 c.17715G>T p.W5905C missense 0.00000957●●●●●●
2132. 228509767 c.15225delC p.Gln5076ArgfsTer23 frameshift 0.00000957●●●●●●
2133. 228464949 c.6689C>G p.A2230G missense 0.00000955●●●●●●
2134. 228528443 c.17551G>A p.A5851T missense 0.00000954●●●●●●
2135. 228525043 c.16759G>T p.E5587X nonsense 0.00000950●●●●●●
2136. 228548259 c.19666G>A p.E6556K missense 0.00000950●●●●●●
2137. 228509771 c.15229G>A p.E5077K missense 0.00000949●●●●●●
2138. 228548394 c.19801G>T p.G6601W missense 0.00000946●●●●●●
2139. 228548394 c.19801G>A p.G6601R missense 0.00000946●●●●●●
2140. 228524982 c.16698C>A p.D5566E missense 0.00000945●●●●●●
2141. 228548385 c.19792G>A p.G6598R missense 0.00000944●●●●●●
2142. 228506811 c.14358C>G p.Y4786X nonsense 0.00000944●●●●●●
2143. 228525675 c.16831T>A p.Y5611N missense 0.00000944●●●●●●
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2145. 228467978 c.7762G>A p.V2588I missense 0.00000942●●●●●●
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2147. 228506845 c.14392G>A p.A4798T missense 0.00000942●●●●●●
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2149. 228473923 c.9149T>G p.L3050R missense 0.00000941●●●●●●
2150. 228494143 c.11730G>C p.Q3910H missense 0.00000940●●●●●●
2151. 228548271 c.19678C>G p.R6560G missense 0.00000940●●●●●●
2152. 228548164 c.19571G>A p.R6524Q missense 0.00000939●●●●●●
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2154. 228524974 c.16690G>A p.D5564N missense 0.00000937●●●●●●
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2157. 228473922 c.9148C>T p.L3050F missense 0.00000933●●●●●●
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2163. 228495098 c.12332C>G p.A4111G missense 0.00000929●●●●●●
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2166. 228548313 c.19720C>T p.R6574C missense 0.00000925●●●●●●
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2171. 228461708 c.5375G>C p.R1792P missense 0.00000924●●●●●●
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2198. 228511235 c.15580A>G p.M5194V missense 0.00000916●●●●●●
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2200. 228511257 c.15602C>T p.A5201V missense 0.00000916●●●●●●
2201. 228511259 c.15604G>A p.E5202K missense 0.00000916●●●●●●
2202. 228464961 c.6701T>A p.V2234E missense 0.00000915●●●●●●
2203. 228461722 c.5389G>T p.G1797W missense 0.00000914●●●●●●
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2211. 228525705 c.16861A>C p.I5621L missense 0.00000912●●●●●●
2212. 228525709 c.16865C>G p.T5622R missense 0.00000912●●●●●●
2213. 228525709 c.16865C>T p.T5622M missense 0.00000912●●●●●●
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2217. 228547865 c.19272G>A p.M6424I missense 0.00000911●●●●●●
2218. 228464964 c.6704A>G p.Y2235C missense 0.00000910●●●●●●
2219. 228525832 c.16988A>G p.D5663G missense 0.00000909●●●●●●
2220. 228494327 c.11914C>T p.L3972F missense 0.00000908●●●●●●
2221. 228494327 c.11914C>G p.L3972V missense 0.00000908●●●●●●
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2223. 228494159 c.11746C>T p.P3916S missense 0.00000907●●●●●●
2224. 228509076 c.14534C>T p.P4845L missense 0.00000906●●●●●●
2225. 228525823 c.16979C>G p.A5660G missense 0.00000905●●●●●●
2226. 228527788 c.17401C>A p.Q5801K missense 0.00000905●●●●●●
2227. 228464972 c.6712G>C p.D2238H missense 0.00000904●●●●●●
2228. 228464972 c.6712G>T p.D2238Y missense 0.00000904●●●●●●
2229. 228509075 c.14533C>A p.P4845T missense 0.00000904●●●●●●
2230. 228464970 c.6710G>A p.C2237Y missense 0.00000903●●●●●●
2231. 228509213 c.14671G>T p.E4891X nonsense 0.00000903●●●●●●
2232. 228400237 c.753_754insG p.Lys253GlnfsTer103 frameshift 0.00000903●●●●●●
2233. 228400415 c.931T>A p.C311S missense 0.00000902●●●●●●
2234. 228464976 c.6716C>T p.A2239V missense 0.00000902●●●●●●
2235. 228494321 c.11908G>A p.A3970T missense 0.00000901●●●●●●
2236. 228525737 c.16893delC p.Leu5632TrpfsTer63 frameshift 0.00000901●●●●●●
2237. 228509217 c.14675T>A p.M4892K missense 0.00000900●●●●●●
2238. 228509217 c.14675T>G p.M4892R missense 0.00000900●●●●●●
2239. 228524739 c.16572C>G p.H5524Q missense 0.00000900●●●●●●
2240. 228525812 c.16968G>C p.W5656C missense 0.00000900●●●●●●
2241. 228548146 c.19553G>A p.G6518E missense 0.00000900●●●●●●
2242. 228548148 c.19555C>T p.H6519Y missense 0.00000900●●●●●●
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2245. 228464979 c.6719A>G p.H2240R missense 0.00000898●●●●●●
2246. 228465002 c.6742G>C p.V2248L missense 0.00000898●●●●●●
2247. 228538637 c.18412C>A p.Q6138K missense 0.00000898●●●●●●
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2249. 228505164 c.13562-1G>T essential splice site 0.00000897●●●●●●
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2251. 228464987 c.6727C>T p.Q2243X nonsense 0.00000896●●●●●●
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2256. 228525801 c.16957C>T p.R5653W missense 0.00000895●●●●●●
2257. 228525801 c.16957C>G p.R5653G missense 0.00000895●●●●●●
2258. 228464992 c.6732_6733delCT p.Ser2245CysfsTer95 frameshift 0.00000895●●●●●●
2259. 228402799 c.1828G>T p.A610S missense 0.00000894●●●●●●
2260. 228525765 c.16921C>T p.L5641F missense 0.00000894●●●●●●
2261. 228525774 c.16930A>T p.T5644S missense 0.00000894●●●●●●
2262. 228529147 c.17866A>G p.I5956V missense 0.00000894●●●●●●
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2267. 228474612 c.9416C>T p.A3139V missense 0.00000893●●●●●●
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2270. 228548143 c.19550T>G p.V6517G missense 0.00000892●●●●●●
2271. 228430915 c.2961delG p.Ala988HisfsTer15 frameshift 0.00000892●●●●●●
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2273. 228509226 c.14684A>T p.Q4895L missense 0.00000891●●●●●●
2274. 228548142 c.19549G>C p.V6517L missense 0.00000891●●●●●●
2275. 228400250 c.766C>T p.R256C missense 0.00000890●●●●●●
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2277. 228525792 c.16948A>G p.S5650G missense 0.00000890●●●●●●
2278. 228464179 c.6249_6252delGCAG p.Ala2085TrpfsTer81 frameshift 0.00000890●●●●●●
2279. 228505167 c.13564C>T p.L4522F missense 0.00000889●●●●●●
2280. 228529322 c.18034+7G>A splice site 0.00000889●●●●●●
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2282. 228548139 c.19546A>C p.S6516R missense 0.00000888●●●●●●
2283. 228509051 c.14509G>T p.A4837S missense 0.00000887●●●●●●
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2289. 228464158 c.6228_6232delGGTAC p.Val2077AlafsTer34 frameshift 0.00000884●●●●●●
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2312. 228468455 c.8155C>T p.H2719Y missense 0.00000876●●●●●●
2313. 228402529 c.1558G>C p.V520L missense 0.00000875●●●●●●
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2319. 228529309 c.18028G>A p.V6010M missense 0.00000874●●●●●●
2320. 228505176 c.13573delC p.Pro4526GlnfsTer14 frameshift 0.00000874●●●●●●
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2322. 228505602 c.13859C>T p.P4620L missense 0.00000873●●●●●●
2323. 228538619 c.18394G>A p.E6132K missense 0.00000873●●●●●●
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2325. 228494744 c.12069G>T p.K4023N missense 0.00000872●●●●●●
2326. 228505601 c.13858C>G p.P4620A missense 0.00000872●●●●●●
2327. 228400399 c.915C>G p.D305E missense 0.00000871●●●●●●
2328. 228402782 c.1811C>T p.P604L missense 0.00000871●●●●●●
2329. 228467118 c.7369C>T p.R2457C missense 0.00000871●●●●●●
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2333. 228494214 c.11801G>T p.R3934L missense 0.00000869●●●●●●
2334. 228400397 c.913G>C p.D305H missense 0.00000869●●●●●●
2335. 228461512 c.5179C>T p.P1727S missense 0.00000869●●●●●●
2336. 228529167 c.17886_17888delGGA p.Glu5963del inframe 0.00000869●●●●●●
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2338. 228400286 c.802G>A p.E268K missense 0.00000868●●●●●●
2339. 228402541 c.1570A>G p.R524G missense 0.00000868●●●●●●
2340. 228464208 c.6278C>G p.T2093R missense 0.00000868●●●●●●
2341. 228505308 c.13705T>C p.W4569R missense 0.00000868●●●●●●
2342. 228467963 c.7747C>T p.H2583Y missense 0.00000867●●●●●●
2343. 228400394 c.910T>G p.S304A missense 0.00000867●●●●●●
2344. 228467116 c.7367C>T p.S2456L missense 0.00000867●●●●●●
2345. 228468440 c.8140G>T p.G2714C missense 0.00000867●●●●●●
2346. 228505180 c.13577C>T p.P4526L missense 0.00000867●●●●●●
2347. 228474597 c.9401C>T p.T3134I missense 0.00000866●●●●●●
2348. 228528859 c.17761C>A p.H5921N missense 0.00000865●●●●●●
2349. 228402554 c.1583C>A p.S528Y missense 0.00000865●●●●●●
2350. 228461506 c.5173A>G p.R1725G missense 0.00000865●●●●●●
2351. 228464213 c.6283A>T p.T2095S missense 0.00000865●●●●●●
2352. 228547882 c.19289A>G p.E6430G missense 0.00000865●●●●●●
2353. 228464216 c.6286A>G p.M2096V missense 0.00000864●●●●●●
2354. 228464217 c.6287T>C p.M2096T missense 0.00000864●●●●●●
2355. 228400297 c.813G>T p.W271C missense 0.00000863●●●●●●
2356. 228529295 c.18014G>C p.R6005P missense 0.00000863●●●●●●
2357. 228431141 c.3187T>A p.F1063I missense 0.00000863●●●●●●
2358. 228464219 c.6289G>A p.E2097K missense 0.00000863●●●●●●
2359. 228494288 c.11875T>C p.Y3959H missense 0.00000863●●●●●●
2360. 228494752 c.12077T>G p.M4026R missense 0.00000863●●●●●●
2361. 228495082 c.12316G>T p.G4106C missense 0.00000863●●●●●●
2362. 228524749 c.16582G>A p.A5528T missense 0.00000863●●●●●●
2363. 228464270 c.6340C>G p.L2114V missense 0.00000862●●●●●●
2364. 228547884 c.19291G>A p.E6431K missense 0.00000862●●●●●●
2365. 228461498 c.5165C>G p.P1722R missense 0.00000862●●●●●●
2366. 228494285 c.11872G>A p.E3958K missense 0.00000862●●●●●●
2367. 228528862 c.17764G>T p.V5922L missense 0.00000862●●●●●●
2368. 228529210 c.17929G>A p.D5977N missense 0.00000861●●●●●●
2369. 228529181 c.17900delG p.R5967Pfs*30 frameshift 0.00000861●●●●●●
2370. 228461492 c.5159A>G p.E1720G missense 0.00000861●●●●●●
2371. 228401896 c.1280C>T p.P427L missense 0.00000861●●●●●●
2372. 228461480 c.5147C>T p.P1716L missense 0.00000861●●●●●●
2373. 228462128 c.5666C>T p.A1889V missense 0.00000861●●●●●●
2374. 228464271 c.6341T>C p.L2114P missense 0.00000861●●●●●●
2375. 228529199 c.17918A>G p.Q5973R missense 0.00000861●●●●●●
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2377. 228401899 c.1283G>A p.R428Q missense 0.00000860●●●●●●
2378. 228529181 c.17900G>T p.R5967L missense 0.00000860●●●●●●
2379. 228402572 c.1601C>T p.S534F missense 0.00000860●●●●●●
2380. 228464246 c.6316G>A p.D2106N missense 0.00000860●●●●●●
2381. 228464268 c.6338G>A p.G2113D missense 0.00000860●●●●●●
2382. 228468432 c.8132A>C p.E2711A missense 0.00000860●●●●●●
2383. 228528866 c.17768T>C p.F5923S missense 0.00000860●●●●●●
2384. 228529292 c.18011A>T p.Q6004L missense 0.00000860●●●●●●
2385. 228400313 c.829C>G p.L277V missense 0.00000859●●●●●●
2386. 228400319 c.835A>G p.T279A missense 0.00000859●●●●●●
2387. 228400384 c.900C>G p.F300L missense 0.00000859●●●●●●
2388. 228529224 c.17943G>C p.K5981N missense 0.00000859●●●●●●
2389. 228404973 c.2637delC p.Arg880GlyfsTer31 frameshift 0.00000859●●●●●●
2390. 228404970 c.2634C>A p.D878E missense 0.00000858●●●●●●
2391. 228400326 c.842G>A p.G281D missense 0.00000858●●●●●●
2392. 228400378 c.894C>G p.I298M missense 0.00000858●●●●●●
2393. 228400379 c.895C>G p.L299V missense 0.00000858●●●●●●
2394. 228401905 c.1289C>T p.T430M missense 0.00000858●●●●●●
2395. 228402001 c.1385C>T p.A462V missense 0.00000858●●●●●●
2396. 228469888 c.8452G>C p.A2818P missense 0.00000858●●●●●●
2397. 228505437 c.13834C>T p.Q4612X nonsense 0.00000858●●●●●●
2398. 228548106 c.19513G>C p.G6505R missense 0.00000858●●●●●●
2399. 228461873 c.5417-6C>T splice site 0.00000858●●●●●●
2400. 228466872 c.7127-4A>C splice site 0.00000858●●●●●●
2401. 228494961 c.12195C>T p.V4065V splice site 0.00000857●●●●●●
2402. 228468236 c.7936C>T p.P2646S missense 0.00000857●●●●●●
2403. 228469880 c.8444C>T p.T2815I missense 0.00000857●●●●●●
2404. 228479607 c.10348G>C p.A3450P missense 0.00000857●●●●●●
2405. 228400337 c.853G>A p.V285M missense 0.00000857●●●●●●
2406. 228400346 c.862G>A p.E288K missense 0.00000857●●●●●●
2407. 228400375 c.891G>C p.K297N missense 0.00000857●●●●●●
2408. 228469880 c.8444C>G p.T2815S missense 0.00000857●●●●●●
2409. 228494279 c.11866A>C p.T3956P missense 0.00000857●●●●●●
2410. 228528871 c.17773T>C p.F5925L missense 0.00000857●●●●●●
2411. 228528872 c.17774T>C p.F5925S missense 0.00000857●●●●●●
2412. 228547888 c.19295G>T p.G6432V missense 0.00000857●●●●●●
2413. 228466873 c.7127-3C>G splice site 0.00000857●●●●●●
2414. 228494952 c.12194-8C>T splice site 0.00000856●●●●●●
2415. 228433395 c.3757+6delT splice site 0.00000856●●●●●●
2416. 228400359 c.875A>G p.E292G missense 0.00000856●●●●●●
2417. 228469874 c.8438G>T p.G2813V missense 0.00000856●●●●●●
2418. 228494963 c.12197C>T p.P4066L missense 0.00000856●●●●●●
2419. 228495991 c.12646A>T p.T4216S missense 0.00000856●●●●●●
2420. 228538602 c.18377A>G p.Q6126R missense 0.00000856●●●●●●
2421. 228548101 c.19508A>C p.E6503A missense 0.00000856●●●●●●
2422. 228461877 c.5417-2A>G essential splice site 0.00000856●●●●●●
2423. 228509266 c.14724delG p.Ala4909HisfsTer24 frameshift 0.00000856●●●●●●
2424. 228494976 c.12210C>G p.F4070L missense 0.00000855●●●●●●
2425. 228494278 c.11865C>G p.D3955E missense 0.00000855●●●●●●
2426. 228548098 c.19505G>T p.R6502I missense 0.00000855●●●●●●
2427. 228469868 c.8432T>C p.V2811A missense 0.00000854●●●●●●
2428. 228505402 c.13799G>A p.G4600D missense 0.00000854●●●●●●
2429. 228509580 c.15038G>C p.R5013P missense 0.00000854●●●●●●
2430. 228509582 c.15040C>G p.L5014V missense 0.00000854●●●●●●
2431. 228528877 c.17779A>C p.N5927H missense 0.00000854●●●●●●
2432. 228433107 c.3482-7C>T splice site 0.00000854●●●●●●
2433. 228465567 c.6859+8G>C splice site 0.00000854●●●●●●
2434. 228465567 c.6859+8G>A splice site 0.00000854●●●●●●
2435. 228494983 c.12217C>G p.R4073G missense 0.00000853●●●●●●
2436. 228495077 c.12311A>G p.K4104R missense 0.00000853●●●●●●
2437. 228509852 c.15310A>G p.K5104E missense 0.00000853●●●●●●
2438. 228401963 c.1347delC p.Val451SerfsTer27 frameshift 0.00000853●●●●●●
2439. 228468420 c.8120A>C p.D2707A missense 0.00000852●●●●●●
2440. 228509576 c.15034C>T p.R5012C missense 0.00000852●●●●●●
2441. 228401971 c.1355A>G p.H452R missense 0.00000852●●●●●●
2442. 228412411 c.2905C>T p.L969F missense 0.00000852●●●●●●
2443. 228494271 c.11858G>C p.R3953P missense 0.00000852●●●●●●
2444. 228505389 c.13786G>A p.V4596M missense 0.00000852●●●●●●
2445. 228505392 c.13789G>A p.A4597T missense 0.00000852●●●●●●
2446. 228509273 c.14731G>A p.V4911M missense 0.00000852●●●●●●
2447. 228548088 c.19495G>C p.V6499L missense 0.00000852●●●●●●
2448. 228469853 c.8417_8418insGGT p.Glu2806_Val2807insVal inframe 0.00000852●●●●●●
2449. 228520642 c.15731+3A>G splice site 0.00000852●●●●●●
2450. 228474587 c.9391G>A p.D3131N missense 0.00000851●●●●●●
2451. 228402614 c.1643A>G p.Y548C missense 0.00000851●●●●●●
2452. 228402615 c.1644C>G p.Y548X nonsense 0.00000851●●●●●●
2453. 228402706 c.1735G>A p.V579M missense 0.00000851●●●●●●
2454. 228402724 c.1753T>G p.F585V missense 0.00000851●●●●●●
2455. 228402728 c.1757A>G p.Q586R missense 0.00000851●●●●●●
2456. 228402737 c.1766T>G p.V589G missense 0.00000851●●●●●●
2457. 228404737 c.2401G>A p.D801N missense 0.00000851●●●●●●
2458. 228494252 c.11839G>C p.V3947L missense 0.00000851●●●●●●
2459. 228494264 c.11851C>G p.L3951V missense 0.00000851●●●●●●
2460. 228505387 c.13784G>T p.R4595L missense 0.00000851●●●●●●
2461. 228527770 c.17383G>C p.V5795L missense 0.00000851●●●●●●
2462. 228547893 c.19300G>A p.D6434N missense 0.00000851●●●●●●
2463. 228452091 c.4860A>G splice site 0.00000851●●●●●●
2464. 228529266 c.17985G>C p.W5995C missense 0.00000850●●●●●●
2465. 228456226 c.4862-5C>T splice site 0.00000850●●●●●●
2466. 228402632 c.1661A>G p.K554R missense 0.00000850●●●●●●
2467. 228402637 c.1666G>T p.G556C missense 0.00000850●●●●●●
2468. 228402690 c.1719G>T p.E573D missense 0.00000850●●●●●●
2469. 228402691 c.1720C>A p.L574M missense 0.00000850●●●●●●
2470. 228404744 c.2408C>T p.A803V missense 0.00000850●●●●●●
2471. 228466402 c.6872C>T p.T2291I missense 0.00000850●●●●●●
2472. 228469646 c.8210G>A p.G2737D missense 0.00000850●●●●●●
2473. 228469831 c.8395G>C p.A2799P missense 0.00000850●●●●●●
2474. 228404742 c.2406_2408delGGC p.Ala803del inframe 0.00000850●●●●●●
2475. 228481314 c.11128_11129delAG p.Arg3710GlyfsTer13 frameshift 0.00000850●●●●●●
2476. 228481314 c.11128delA p.Arg3710GlyfsTer8 frameshift 0.00000850●●●●●●
2477. 228402680 c.1709C>T p.A570V missense 0.00000849●●●●●●
2478. 228481311 c.11125G>A p.V3709I missense 0.00000849●●●●●●
2479. 228402647 c.1676C>T p.T559I missense 0.00000849●●●●●●
2480. 228404960 c.2624A>T p.D875V missense 0.00000849●●●●●●
2481. 228466888 c.7139C>G p.T2380S missense 0.00000849●●●●●●
2482. 228469805 c.8369G>A p.R2790Q missense 0.00000849●●●●●●
2483. 228494993 c.12227G>C p.S4076T missense 0.00000849●●●●●●
2484. 228494995 c.12229C>G p.L4077V missense 0.00000849●●●●●●
2485. 228495928 c.12583C>T p.Q4195X nonsense 0.00000849●●●●●●
2486. 228505375 c.13772C>G p.T4591S missense 0.00000849●●●●●●
2487. 228528950 c.17852T>C p.M5951T missense 0.00000849●●●●●●
2488. 228548064 c.19471G>A p.D6491N missense 0.00000849●●●●●●
2489. 228548065 c.19472A>G p.D6491G missense 0.00000849●●●●●●
2490. 228402702 c.1731delT p.Asp578MetfsTer38 frameshift 0.00000849●●●●●●
2491. 228471478 c.9004+8G>A splice site 0.00000849●●●●●●
2492. 228402019 c.1403T>C p.I468T missense 0.00000848●●●●●●
2493. 228402668 c.1697C>T p.A566V missense 0.00000848●●●●●●
2494. 228402676 c.1705G>A p.V569M missense 0.00000848●●●●●●
2495. 228467094 c.7345G>A p.V2449M missense 0.00000848●●●●●●
2496. 228469804 c.8368C>T p.R2790X nonsense 0.00000848●●●●●●
2497. 228505374 c.13771A>T p.T4591S missense 0.00000848●●●●●●
2498. 228509298 c.14756G>A p.C4919Y missense 0.00000848●●●●●●
2499. 228509558 c.15016G>A p.A5006T missense 0.00000848●●●●●●
2500. 228528904 c.17806C>G p.R5936G missense 0.00000848●●●●●●
2501. 228528904 c.17806C>T p.R5936X nonsense 0.00000848●●●●●●
2502. 228471476 c.9004+6G>A splice site 0.00000848●●●●●●
2503. 228466404 c.6874C>G p.L2292V missense 0.00000847●●●●●●
2504. 228528932 c.17834A>T p.Y5945F missense 0.00000847●●●●●●
2505. 228402024 c.1408G>T p.A470S missense 0.00000847●●●●●●
2506. 228404753 c.2417G>A p.C806Y missense 0.00000847●●●●●●
2507. 228456233 c.4864C>G p.P1622A missense 0.00000847●●●●●●
2508. 228466404 c.6874C>T p.L2292F missense 0.00000847●●●●●●
2509. 228505631 c.13888C>T p.P4630S missense 0.00000847●●●●●●
2510. 228509556 c.15014A>T p.D5005V missense 0.00000847●●●●●●
2511. 228528910 c.17812T>G p.S5938A missense 0.00000847●●●●●●
2512. 228528914 c.17816G>T p.R5939L missense 0.00000847●●●●●●
2513. 228528939 c.17841C>G p.F5947L missense 0.00000847●●●●●●
2514. 228465560 c.6859+1G>A essential splice site 0.00000847●●●●●●
2515. 228432278 c.3481+6delT splice site 0.00000847●●●●●●
2516. 228471473 c.9004+3G>A splice site 0.00000847●●●●●●
2517. 228471475 c.9004+5G>A splice site 0.00000847●●●●●●
2518. 228412405 c.2899C>T p.Q967X nonsense 0.00000846●●●●●●
2519. 228412406 c.2900A>G p.Q967R missense 0.00000846●●●●●●
2520. 228431125 c.3171G>T p.R1057S missense 0.00000846●●●●●●
2521. 228433381 c.3749A>C p.H1250P missense 0.00000846●●●●●●
2522. 228462114 c.5652T>A p.D1884E missense 0.00000846●●●●●●
2523. 228467091 c.7342C>A p.P2448T missense 0.00000846●●●●●●
2524. 228469795 c.8359C>T p.R2787C missense 0.00000846●●●●●●
2525. 228469799 c.8363A>G p.Q2788R missense 0.00000846●●●●●●
2526. 228548046 c.19453C>T p.P6485S missense 0.00000846●●●●●●
2527. 228433113 c.3482-1G>T essential splice site 0.00000846●●●●●●
2528. 228509544 c.15002G>A p.G5001D missense 0.00000845●●●●●●
2529. 228402028 c.1412A>G p.E471G missense 0.00000845●●●●●●
2530. 228461947 c.5485G>A p.A1829T missense 0.00000845●●●●●●
2531. 228467085 c.7336A>T p.T2446S missense 0.00000845●●●●●●
2532. 228469792 c.8356A>G p.T2786A missense 0.00000845●●●●●●
2533. 228476019 c.10069A>G p.I3357V missense 0.00000845●●●●●●
2534. 228505344 c.13741T>G p.C4581G missense 0.00000845●●●●●●
2535. 228505634 c.13891delG p.Glu4631ArgfsTer51 frameshift 0.00000845●●●●●●
2536. 228509540 c.14998G>A p.G5000R missense 0.00000844●●●●●●
2537. 228509892 c.15350C>G p.P5117R missense 0.00000844●●●●●●
2538. 228509894 c.15352A>G p.S5118G missense 0.00000844●●●●●●
2539. 228404948 c.2612G>A p.R871H missense 0.00000844●●●●●●
2540. 228481053 c.10868-1G>A essential splice site 0.00000844●●●●●●
2541. 228404948 c.2612G>T p.R871L missense 0.00000844●●●●●●
2542. 228456291 c.4922G>A p.G1641E missense 0.00000844●●●●●●
2543. 228461953 c.5491G>A p.E1831K missense 0.00000844●●●●●●
2544. 228461955 c.5493G>C p.E1831D missense 0.00000844●●●●●●
2545. 228471464 c.8998G>A p.V3000M missense 0.00000844●●●●●●
2546. 228481306 c.11120T>G p.L3707R missense 0.00000844●●●●●●
2547. 228505278 c.13675G>T p.V4559L missense 0.00000844●●●●●●
2548. 228505359 c.13756C>A p.L4586M missense 0.00000844●●●●●●
2549. 228505363 c.13760C>A p.A4587D missense 0.00000844●●●●●●
2550. 228509886 c.15344C>T p.P5115L missense 0.00000844●●●●●●
2551. 228432273 c.3481+1G>A essential splice site 0.00000844●●●●●●
2552. 228432270 c.3479C>G p.T1160R missense 0.00000843●●●●●●
2553. 228456306 c.4937T>C p.L1646P missense 0.00000843●●●●●●
2554. 228548029 c.19436C>A p.T6479N missense 0.00000843●●●●●●
2555. 228432270 c.3479C>T p.T1160I missense 0.00000843●●●●●●
2556. 228452077 c.4846C>T p.H1616Y missense 0.00000843●●●●●●
2557. 228467077 c.7328C>G p.S2443C missense 0.00000843●●●●●●
2558. 228474577 c.9381C>A p.C3127X nonsense 0.00000843●●●●●●
2559. 228505635 c.13892A>C p.E4631A missense 0.00000843●●●●●●
2560. 228505851 c.14108G>A p.C4703Y missense 0.00000843●●●●●●
2561. 228520627 c.15719G>A p.G5240D missense 0.00000843●●●●●●
2562. 228481055 c.10869T>C splice site 0.00000843●●●●●●
2563. 228467938 c.7722G>A p.W2574X nonsense 0.00000842●●●●●●
2564. 228471456 c.8990A>G p.Q2997R missense 0.00000842●●●●●●
2565. 228456249 c.4880C>T p.A1627V missense 0.00000842●●●●●●
2566. 228456290 c.4921G>C p.G1641R missense 0.00000842●●●●●●
2567. 228456299 c.4930G>A p.A1644T missense 0.00000842●●●●●●
2568. 228456492 c.5123G>T p.R1708L missense 0.00000842●●●●●●
2569. 228461968 c.5506T>C p.C1836R missense 0.00000842●●●●●●
2570. 228462097 c.5635G>A p.V1879M missense 0.00000842●●●●●●
2571. 228462098 c.5636T>C p.V1879A missense 0.00000842●●●●●●
2572. 228466410 c.6880C>T p.R2294C missense 0.00000842●●●●●●
2573. 228481303 c.11117T>C p.M3706T missense 0.00000842●●●●●●
2574. 228476013 c.10063C>G p.L3355V missense 0.00000841●●●●●●
2575. 228505261 c.13658G>A p.G4553D missense 0.00000841●●●●●●
2576. 228404774 c.2438G>A p.G813D missense 0.00000841●●●●●●
2577. 228466906 c.7157A>G p.Q2386R missense 0.00000841●●●●●●
2578. 228468389 c.8089A>C p.T2697P missense 0.00000841●●●●●●
2579. 228469654 c.8218A>C p.K2740Q missense 0.00000841●●●●●●
2580. 228471447 c.8981C>G p.S2994C missense 0.00000841●●●●●●
2581. 228495973 c.12628C>G p.R4210G missense 0.00000841●●●●●●
2582. 228505251 c.13648G>A p.G4550R missense 0.00000841●●●●●●
2583. 228505257 c.13654G>T p.G4552C missense 0.00000841●●●●●●
2584. 228509324 c.14782C>T p.R4928X nonsense 0.00000841●●●●●●
2585. 228509325 c.14783G>T p.R4928L missense 0.00000841●●●●●●
2586. 228404775 c.2439delC p.Pro814ArgfsTer97 frameshift 0.00000841●●●●●●
2587. 228412159 c.2654-1G>T essential splice site 0.00000841●●●●●●
2588. 228437944 c.4309+3C>G splice site 0.00000841●●●●●●
2589. 228475389 c.9545-6C>T splice site 0.00000841●●●●●●
2590. 228433119 c.3487A>G p.K1163E missense 0.00000840●●●●●●
2591. 228404929 c.2593G>A p.E865K missense 0.00000840●●●●●●
2592. 228432266 c.3475A>G p.I1159V missense 0.00000840●●●●●●
2593. 228456260 c.4891C>T p.P1631S missense 0.00000840●●●●●●
2594. 228467927 c.7711G>A p.E2571K missense 0.00000840●●●●●●
2595. 228467928 c.7712A>G p.E2571G missense 0.00000840●●●●●●
2596. 228469754 c.8318G>A p.G2773D missense 0.00000840●●●●●●
2597. 228471441 c.8975C>A p.A2992D missense 0.00000840●●●●●●
2598. 228471445 c.8979G>C p.Q2993H missense 0.00000840●●●●●●
2599. 228471445 c.8979G>T p.Q2993H missense 0.00000840●●●●●●
2600. 228476008 c.10058C>T p.A3353V missense 0.00000840●●●●●●
2601. 228509508 c.14966G>T p.S4989I missense 0.00000840●●●●●●
2602. 228527762 c.17375A>T p.E5792V missense 0.00000840●●●●●●
2603. 228538577 c.18352C>T p.P6118S missense 0.00000840●●●●●●
2604. 228520555 c.15653-6delC splice site 0.00000840●●●●●●
2605. 228434481 c.4010T>C p.L1337P missense 0.00000839●●●●●●
2606. 228456276 c.4907T>C p.V1636A missense 0.00000839●●●●●●
2607. 228456474 c.5105G>T p.G1702V missense 0.00000839●●●●●●
2608. 228404918 c.2582C>T p.T861I missense 0.00000839●●●●●●
2609. 228404920 c.2584A>G p.R862G missense 0.00000839●●●●●●
2610. 228404926 c.2590G>T p.D864Y missense 0.00000839●●●●●●
2611. 228456276 c.4907T>G p.V1636G missense 0.00000839●●●●●●
2612. 228456278 c.4909C>A p.Q1637K missense 0.00000839●●●●●●
2613. 228456279 c.4910A>G p.Q1637R missense 0.00000839●●●●●●
2614. 228456471 c.5102G>A p.G1701E missense 0.00000839●●●●●●
2615. 228462073 c.5611C>T p.R1871C missense 0.00000839●●●●●●
2616. 228465455 c.6755G>C p.G2252A missense 0.00000839●●●●●●
2617. 228481060 c.10874C>G p.P3625R missense 0.00000839●●●●●●
2618. 228495920 c.12575G>T p.W4192L missense 0.00000839●●●●●●
2619. 228495921 c.12576G>A p.W4192X nonsense 0.00000839●●●●●●
2620. 228509327 c.14785G>A p.A4929T missense 0.00000839●●●●●●
2621. 228509328 c.14786C>T p.A4929V missense 0.00000839●●●●●●
2622. 228509330 c.14788C>A p.R4930S missense 0.00000839●●●●●●
2623. 228509499 c.14957T>A p.V4986E missense 0.00000839●●●●●●
2624. 228547902 c.19309G>C p.A6437P missense 0.00000839●●●●●●
2625. 228437941 c.4309delG p.Glu1437SerfsTer37 frameshift 0.00000839●●●●●●
2626. 228465454 c.6755-1G>A essential splice site 0.00000839●●●●●●
2627. 228475394 c.9545-1G>A essential splice site 0.00000839●●●●●●
2628. 228471196 c.8738-8T>A splice site 0.00000839●●●●●●
2629. 228433368 c.3736T>C p.S1246P missense 0.00000838●●●●●●
2630. 228404783 c.2447A>G p.Q816R missense 0.00000838●●●●●●
2631. 228404897 c.2561G>A p.R854Q missense 0.00000838●●●●●●
2632. 228432263 c.3472C>T p.H1158Y missense 0.00000838●●●●●●
2633. 228434295 c.3824G>C p.S1275T missense 0.00000838●●●●●●
2634. 228444621 c.4579G>C p.V1527L missense 0.00000838●●●●●●
2635. 228444621 c.4579G>T p.V1527L missense 0.00000838●●●●●●
2636. 228456468 c.5099C>T p.A1700V missense 0.00000838●●●●●●
2637. 228462019 c.5557C>G p.R1853G missense 0.00000838●●●●●●
2638. 228462049 c.5587C>A p.R1863S missense 0.00000838●●●●●●
2639. 228462053 c.5591C>T p.S1864L missense 0.00000838●●●●●●
2640. 228462061 c.5599G>C p.V1867L missense 0.00000838●●●●●●
2641. 228465459 c.6759G>T p.R2253S missense 0.00000838●●●●●●
2642. 228465536 c.6836C>G p.S2279W missense 0.00000838●●●●●●
2643. 228467909 c.7693C>T p.Q2565X nonsense 0.00000838●●●●●●
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2645. 228468255 c.7955C>T p.A2652V missense 0.00000838●●●●●●
2646. 228469743 c.8307G>A p.M2769I missense 0.00000838●●●●●●
2647. 228479623 c.10364G>T p.G3455V missense 0.00000838●●●●●●
2648. 228481062 c.10876A>G p.I3626V missense 0.00000838●●●●●●
2649. 228495064 c.12298G>A p.V4100M missense 0.00000838●●●●●●
2650. 228495931 c.12586G>T p.G4196C missense 0.00000838●●●●●●
2651. 228547978 c.19385G>T p.R6462L missense 0.00000838●●●●●●
2652. 228547987 c.19394C>T p.T6465I missense 0.00000838●●●●●●
2653. 228444621 c.4579_4584delGTGGCA p.Val1527_Ala1528del inframe 0.00000838●●●●●●
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2657. 228520572 c.15664G>T p.D5222Y missense 0.00000837●●●●●●
2658. 228471202 c.8738-2A>G essential splice site 0.00000837●●●●●●
2659. 228402120 c.1504C>T p.Q502X nonsense 0.00000837●●●●●●
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2663. 228456452 c.5083G>A p.E1695K missense 0.00000837●●●●●●
2664. 228465461 c.6761C>G p.T2254R missense 0.00000837●●●●●●
2665. 228465466 c.6766A>G p.T2256A missense 0.00000837●●●●●●
2666. 228466926 c.7177C>T p.P2393S missense 0.00000837●●●●●●
2667. 228467044 c.7295C>T p.T2432M missense 0.00000837●●●●●●
2668. 228467900 c.7684G>C p.G2562R missense 0.00000837●●●●●●
2669. 228468381 c.8081T>A p.F2694Y missense 0.00000837●●●●●●
2670. 228471426 c.8960G>A p.C2987Y missense 0.00000837●●●●●●
2671. 228471427 c.8961C>A p.C2987X nonsense 0.00000837●●●●●●
2672. 228547937 c.19344C>A p.S6448R missense 0.00000837●●●●●●
2673. 228547948 c.19355G>A p.R6452H missense 0.00000837●●●●●●
2674. 228471202 c.8738-2A>C essential splice site 0.00000837●●●●●●
2675. 228402134 c.1518G>A splice site 0.00000837●●●●●●
2676. 228402134 c.1518G>C splice site 0.00000837●●●●●●
2677. 228402138 c.1519+3G>A splice site 0.00000837●●●●●●
2678. 228402090 c.1474T>G p.F492V missense 0.00000836●●●●●●
2679. 228467040 c.7291G>A p.G2431S missense 0.00000836●●●●●●
2680. 228509337 c.14795T>C p.L4932P missense 0.00000836●●●●●●
2681. 228538565 c.18340G>T p.V6114F missense 0.00000836●●●●●●
2682. 228402049 c.1433C>T p.T478I missense 0.00000836●●●●●●
2683. 228402123 c.1507T>G p.F503V missense 0.00000836●●●●●●
2684. 228402132 c.1516T>G p.S506A missense 0.00000836●●●●●●
2685. 228404894 c.2558A>C p.H853P missense 0.00000836●●●●●●
2686. 228412174 c.2668T>A p.F890I missense 0.00000836●●●●●●
2687. 228412176 c.2670T>G p.F890L missense 0.00000836●●●●●●
2688. 228456326 c.4957G>A p.A1653T missense 0.00000836●●●●●●
2689. 228456434 c.5065G>A p.G1689S missense 0.00000836●●●●●●
2690. 228456437 c.5068C>G p.Q1690E missense 0.00000836●●●●●●
2691. 228465469 c.6769C>T p.L2257F missense 0.00000836●●●●●●
2692. 228465479 c.6779G>C p.R2260P missense 0.00000836●●●●●●
2693. 228468260 c.7960G>A p.D2654N missense 0.00000836●●●●●●
2694. 228468378 c.8078A>T p.D2693V missense 0.00000836●●●●●●
2695. 228469731 c.8295C>A p.S2765R missense 0.00000836●●●●●●
2696. 228471419 c.8953T>C p.Y2985H missense 0.00000836●●●●●●
2697. 228471423 c.8957C>G p.T2986S missense 0.00000836●●●●●●
2698. 228475406 c.9556C>G p.R3186G missense 0.00000836●●●●●●
2699. 228475407 c.9557G>A p.R3186Q missense 0.00000836●●●●●●
2700. 228479628 c.10369A>G p.R3457G missense 0.00000836●●●●●●
2701. 228479629 c.10370G>A p.R3457K missense 0.00000836●●●●●●
2702. 228481293 c.11107A>G p.T3703A missense 0.00000836●●●●●●
2703. 228495056 c.12290G>A p.G4097E missense 0.00000836●●●●●●
2704. 228520576 c.15668A>G p.Y5223C missense 0.00000836●●●●●●
2705. 228404790 c.2454_2455delGT p.Cys819Ter frameshift 0.00000836●●●●●●
2706. 228402073 c.1457A>T p.D486V missense 0.00000835●●●●●●
2707. 228471414 c.8948A>G p.D2983G missense 0.00000835●●●●●●
2708. 228468374 c.8074delT p.Y2692Mfs*17 frameshift 0.00000835●●●●●●
2709. 228495910 c.12565G>T p.G4189C missense 0.00000835●●●●●●
2710. 228402065 c.1449C>G p.C483W missense 0.00000835●●●●●●
2711. 228402069 c.1453G>T p.E485X nonsense 0.00000835●●●●●●
2712. 228402084 c.1468G>T p.V490L missense 0.00000835●●●●●●
2713. 228402084 c.1468G>A p.V490M missense 0.00000835●●●●●●
2714. 228402121 c.1505A>C p.Q502P missense 0.00000835●●●●●●
2715. 228434297 c.3826G>C p.A1276P missense 0.00000835●●●●●●
2716. 228434297 c.3826G>A p.A1276T missense 0.00000835●●●●●●
2717. 228444612 c.4570C>A p.H1524N missense 0.00000835●●●●●●
2718. 228444614 c.4572C>G p.H1524Q missense 0.00000835●●●●●●
2719. 228456419 c.5050G>A p.V1684M missense 0.00000835●●●●●●
2720. 228465503 c.6803G>C p.G2268A missense 0.00000835●●●●●●
2721. 228465515 c.6815T>C p.F2272S missense 0.00000835●●●●●●
2722. 228467013 c.7264G>C p.G2422R missense 0.00000835●●●●●●
2723. 228467032 c.7283A>G p.E2428G missense 0.00000835●●●●●●
2724. 228471214 c.8748C>A p.N2916K missense 0.00000835●●●●●●
2725. 228471312 c.8846G>T p.R2949L missense 0.00000835●●●●●●
2726. 228471314 c.8848A>G p.K2950E missense 0.00000835●●●●●●
2727. 228471318 c.8852G>C p.G2951A missense 0.00000835●●●●●●
2728. 228471318 c.8852G>T p.G2951V missense 0.00000835●●●●●●
2729. 228471320 c.8854C>T p.L2952F missense 0.00000835●●●●●●
2730. 228471358 c.8892C>A p.S2964R missense 0.00000835●●●●●●
2731. 228509343 c.14801A>G p.D4934G missense 0.00000835●●●●●●
2732. 228509466 c.14924A>G p.N4975S missense 0.00000835●●●●●●
2733. 228538547 c.18322C>T p.P6108S missense 0.00000835●●●●●●
2734. 228538548 c.18323C>A p.P6108Q missense 0.00000835●●●●●●
2735. 228538548 c.18323C>G p.P6108R missense 0.00000835●●●●●●
2736. 228538551 c.18326G>C p.R6109P missense 0.00000835●●●●●●
2737. 228456334 c.4965_4966delAG p.Glu1656GlyfsTer78 frameshift 0.00000835●●●●●●
2738. 228467013 c.7264delG p.Asn2424ThrfsTer13 frameshift 0.00000835●●●●●●
2739. 228434230 c.3759G>A splice site 0.00000835●●●●●●
2740. 228474469 c.9278-5C>G splice site 0.00000835●●●●●●
2741. 228474469 c.9278-5C>T splice site 0.00000835●●●●●●
2742. 228482475 c.11396-6T>C splice site 0.00000835●●●●●●
2743. 228466474 c.6944G>A p.R2315Q missense 0.00000834●●●●●●
2744. 228466491 c.6961C>G p.R2321G missense 0.00000834●●●●●●
2745. 228404804 c.2468A>C p.E823A missense 0.00000834●●●●●●
2746. 228466491 c.6961C>T p.R2321W missense 0.00000834●●●●●●
2747. 228466947 c.7198T>G p.C2400G missense 0.00000834●●●●●●
2748. 228466950 c.7201G>A p.E2401K missense 0.00000834●●●●●●
2749. 228527752 c.17365G>T p.V5789L missense 0.00000834●●●●●●
2750. 228404812 c.2476G>A p.V826I missense 0.00000834●●●●●●
2751. 228404885 c.2549G>A p.G850E missense 0.00000834●●●●●●
2752. 228437719 c.4087G>A p.E1363K missense 0.00000834●●●●●●
2753. 228437927 c.4295G>T p.S1432I missense 0.00000834●●●●●●
2754. 228456414 c.5045G>A p.R1682K missense 0.00000834●●●●●●
2755. 228466428 c.6898A>T p.I2300F missense 0.00000834●●●●●●
2756. 228466482 c.6952G>A p.A2318T missense 0.00000834●●●●●●
2757. 228466483 c.6953C>T p.A2318V missense 0.00000834●●●●●●
2758. 228466971 c.7222C>T p.R2408W missense 0.00000834●●●●●●
2759. 228467020 c.7271A>T p.N2424I missense 0.00000834●●●●●●
2760. 228468272 c.7972G>A p.A2658T missense 0.00000834●●●●●●
2761. 228468362 c.8062C>G p.P2688A missense 0.00000834●●●●●●
2762. 228468371 c.8071A>C p.K2691Q missense 0.00000834●●●●●●
2763. 228471300 c.8834C>T p.T2945I missense 0.00000834●●●●●●
2764. 228471393 c.8927C>T p.A2976V missense 0.00000834●●●●●●
2765. 228471395 c.8929C>G p.L2977V missense 0.00000834●●●●●●
2766. 228475419 c.9569C>G p.A3190G missense 0.00000834●●●●●●
2767. 228495949 c.12604A>G p.N4202D missense 0.00000834●●●●●●
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2770. 228469716 c.8280_8282delCCA p.His2761del inframe 0.00000834●●●●●●
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2775. 228468357 c.8057T>C p.L2686P missense 0.00000833●●●●●●
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2777. 228456380 c.5011A>G p.K1671E missense 0.00000833●●●●●●
2778. 228466974 c.7225C>T p.P2409S missense 0.00000833●●●●●●
2779. 228469708 c.8272G>A p.V2758I missense 0.00000833●●●●●●
2780. 228404816 c.2480A>T p.H827L missense 0.00000833●●●●●●
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2785. 228431008 c.3054T>A p.D1018E missense 0.00000833●●●●●●
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2790. 228456348 c.4979A>G p.Y1660C missense 0.00000833●●●●●●
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2799. 228466546 c.7016G>T p.S2339I missense 0.00000833●●●●●●
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2801. 228466561 c.7031G>T p.R2344L missense 0.00000833●●●●●●
2802. 228466972 c.7223G>A p.R2408Q missense 0.00000833●●●●●●
2803. 228467001 c.7252G>A p.V2418M missense 0.00000833●●●●●●
2804. 228468350 c.8050G>A p.V2684M missense 0.00000833●●●●●●
2805. 228471236 c.8770A>G p.N2924D missense 0.00000833●●●●●●
2806. 228471254 c.8788A>G p.K2930E missense 0.00000833●●●●●●
2807. 228471267 c.8801T>C p.V2934A missense 0.00000833●●●●●●
2808. 228474477 c.9281A>G p.K3094R missense 0.00000833●●●●●●
2809. 228474484 c.9288C>G p.S3096R missense 0.00000833●●●●●●
2810. 228474546 c.9350G>A p.C3117Y missense 0.00000833●●●●●●
2811. 228475981 c.10031G>T p.C3344F missense 0.00000833●●●●●●
2812. 228495934 c.12589C>G p.L4197V missense 0.00000833●●●●●●
2813. 228495944 c.12599A>C p.Q4200P missense 0.00000833●●●●●●
2814. 228509351 c.14809G>A p.E4937K missense 0.00000833●●●●●●
2815. 228509355 c.14813T>C p.L4938P missense 0.00000833●●●●●●
2816. 228509444 c.14902T>G p.C4968G missense 0.00000833●●●●●●
2817. 228524800 c.16633G>A p.E5545K missense 0.00000833●●●●●●
2818. 228524801 c.16634A>G p.E5545G missense 0.00000833●●●●●●
2819. 228527743 c.17356G>A p.V5786M missense 0.00000833●●●●●●
2820. 228468361 c.8061delC p.Ser2689ValfsTer20 frameshift 0.00000833●●●●●●
2821. 228475760 c.9812-2A>G essential splice site 0.00000833●●●●●●
2822. 228479640 c.10381G>T p.A3461S missense 0.00000832●●●●●●
2823. 228466560 c.7030C>T p.R2344C missense 0.00000832●●●●●●
2824. 228431015 c.3061A>G p.K1021E missense 0.00000832●●●●●●
2825. 228431016 c.3062A>T p.K1021M missense 0.00000832●●●●●●
2826. 228434238 c.3767C>A p.A1256E missense 0.00000832●●●●●●
2827. 228437921 c.4289C>G p.S1430C missense 0.00000832●●●●●●
2828. 228456368 c.4999A>T p.S1667C missense 0.00000832●●●●●●
2829. 228469679 c.8243T>C p.L2748P missense 0.00000832●●●●●●
2830. 228469687 c.8251G>A p.E2751K missense 0.00000832●●●●●●
2831. 228469688 c.8252A>G p.E2751G missense 0.00000832●●●●●●
2832. 228469706 c.8270G>A p.C2757Y missense 0.00000832●●●●●●
2833. 228474497 c.9301G>A p.E3101K missense 0.00000832●●●●●●
2834. 228474543 c.9347T>C p.V3116A missense 0.00000832●●●●●●
2835. 228475635 c.9785C>G p.T3262S missense 0.00000832●●●●●●
2836. 228509366 c.14824C>T p.R4942W missense 0.00000832●●●●●●
2837. 228524805 c.16638G>A p.M5546I missense 0.00000832●●●●●●
2838. 228475978 c.10028_10029insGT p.Gly3347ValfsTer20 frameshift 0.00000832●●●●●●
2839. 228524828 c.16660+1G>T essential splice site 0.00000832●●●●●●
2840. 228437911 c.4279C>T p.Q1427X nonsense 0.00000831●●●●●●
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2842. 228466600 c.7070A>G p.D2357G missense 0.00000831●●●●●●
2843. 228475614 c.9764C>T p.S3255L missense 0.00000831●●●●●●
2844. 228509373 c.14831A>G p.H4944R missense 0.00000831●●●●●●
2845. 228412223 c.2717C>A p.A906D missense 0.00000831●●●●●●
2846. 228412357 c.2851C>T p.Q951X nonsense 0.00000831●●●●●●
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2855. 228466576 c.7046G>A p.S2349N missense 0.00000831●●●●●●
2856. 228466587 c.7057G>A p.A2353T missense 0.00000831●●●●●●
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2858. 228466603 c.7073C>T p.T2358I missense 0.00000831●●●●●●
2859. 228466617 c.7087G>A p.A2363T missense 0.00000831●●●●●●
2860. 228466633 c.7103C>T p.T2368I missense 0.00000831●●●●●●
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3096. 228476520 c.10270G>A p.V3424M missense 0.00000828●●●●●●
3097. 228476527 c.10277A>G p.D3426G missense 0.00000828●●●●●●
3098. 228476535 c.10285G>A p.E3429K missense 0.00000828●●●●●●
3099. 228476548 c.10298T>G p.V3433G missense 0.00000828●●●●●●
3100. 228476553 c.10303G>C p.G3435R missense 0.00000828●●●●●●
3101. 228476577 c.10327C>G p.L3443V missense 0.00000828●●●●●●
3102. 228476583 c.10333G>A p.V3445M missense 0.00000828●●●●●●
3103. 228476587 c.10337A>G p.K3446R missense 0.00000828●●●●●●
3104. 228479818 c.10559G>A p.C3520Y missense 0.00000828●●●●●●
3105. 228479839 c.10580C>A p.T3527N missense 0.00000828●●●●●●
3106. 228479842 c.10583C>T p.S3528L missense 0.00000828●●●●●●
3107. 228480281 c.10661C>T p.T3554I missense 0.00000828●●●●●●
3108. 228480286 c.10666G>T p.V3556L missense 0.00000828●●●●●●
3109. 228480292 c.10672C>T p.Q3558X nonsense 0.00000828●●●●●●
3110. 228480307 c.10687A>C p.S3563R missense 0.00000828●●●●●●
3111. 228480322 c.10702G>A p.E3568K missense 0.00000828●●●●●●
3112. 228480333 c.10713G>C p.K3571N missense 0.00000828●●●●●●
3113. 228480366 c.10746C>G p.Y3582X nonsense 0.00000828●●●●●●
3114. 228480392 c.10772G>A p.C3591Y missense 0.00000828●●●●●●
3115. 228480406 c.10786C>T p.R3596C missense 0.00000828●●●●●●
3116. 228480416 c.10796C>T p.A3599V missense 0.00000828●●●●●●
3117. 228480424 c.10804G>A p.D3602N missense 0.00000828●●●●●●
3118. 228480427 c.10807A>G p.T3603A missense 0.00000828●●●●●●
3119. 228480443 c.10823G>T p.C3608F missense 0.00000828●●●●●●
3120. 228480450 c.10830C>A p.C3610X nonsense 0.00000828●●●●●●
3121. 228480451 c.10831G>A p.G3611R missense 0.00000828●●●●●●
3122. 228480457 c.10837G>A p.E3613K missense 0.00000828●●●●●●
3123. 228480472 c.10852A>G p.M3618V missense 0.00000828●●●●●●
3124. 228480473 c.10853T>C p.M3618T missense 0.00000828●●●●●●
3125. 228480482 c.10862T>G p.V3621G missense 0.00000828●●●●●●
3126. 228481201 c.11015T>A p.L3672Q missense 0.00000828●●●●●●
3127. 228481206 c.11020C>A p.Q3674K missense 0.00000828●●●●●●
3128. 228481218 c.11032A>G p.R3678G missense 0.00000828●●●●●●
3129. 228481236 c.11050C>A p.R3684S missense 0.00000828●●●●●●
3130. 228481855 c.11134A>G p.M3712V missense 0.00000828●●●●●●
3131. 228481858 c.11137C>T p.P3713S missense 0.00000828●●●●●●
3132. 228481870 c.11149A>G p.I3717V missense 0.00000828●●●●●●
3133. 228481888 c.11167G>A p.E3723K missense 0.00000828●●●●●●
3134. 228481912 c.11191G>A p.A3731T missense 0.00000828●●●●●●
3135. 228481915 c.11194A>G p.T3732A missense 0.00000828●●●●●●
3136. 228481916 c.11195C>A p.T3732K missense 0.00000828●●●●●●
3137. 228481918 c.11197C>G p.L3733V missense 0.00000828●●●●●●
3138. 228481921 c.11200T>C p.W3734R missense 0.00000828●●●●●●
3139. 228481967 c.11246A>G p.H3749R missense 0.00000828●●●●●●
3140. 228481991 c.11270G>C p.R3757T missense 0.00000828●●●●●●
3141. 228481992 c.11271A>T p.R3757S missense 0.00000828●●●●●●
3142. 228481997 c.11276G>T p.S3759I missense 0.00000828●●●●●●
3143. 228482031 c.11310G>C p.Q3770H missense 0.00000828●●●●●●
3144. 228482057 c.11336C>T p.A3779V missense 0.00000828●●●●●●
3145. 228482066 c.11345A>C p.Y3782S missense 0.00000828●●●●●●
3146. 228482072 c.11351G>A p.C3784Y missense 0.00000828●●●●●●
3147. 228482074 c.11353G>A p.V3785M missense 0.00000828●●●●●●
3148. 228482080 c.11359G>A p.G3787R missense 0.00000828●●●●●●
3149. 228482087 c.11366A>G p.E3789G missense 0.00000828●●●●●●
3150. 228482102 c.11381C>T p.T3794I missense 0.00000828●●●●●●
3151. 228482111 c.11390T>C p.V3797A missense 0.00000828●●●●●●
3152. 228482557 c.11472G>C p.E3824D missense 0.00000828●●●●●●
3153. 228482597 c.11512G>T p.E3838X nonsense 0.00000828●●●●●●
3154. 228482604 c.11519T>A p.L3840H missense 0.00000828●●●●●●
3155. 228482623 c.11538C>G p.Y3846X nonsense 0.00000828●●●●●●
3156. 228482632 c.11547G>T p.R3849S missense 0.00000828●●●●●●
3157. 228482639 c.11554G>A p.G3852R missense 0.00000828●●●●●●
3158. 228482657 c.11572C>T p.Q3858X nonsense 0.00000828●●●●●●
3159. 228482679 c.11594C>A p.A3865E missense 0.00000828●●●●●●
3160. 228482690 c.11605G>A p.E3869K missense 0.00000828●●●●●●
3161. 228482718 c.11633G>A p.R3878K missense 0.00000828●●●●●●
3162. 228482744 c.11659G>A p.A3887T missense 0.00000828●●●●●●
3163. 228505674 c.13931A>G p.E4644G missense 0.00000828●●●●●●
3164. 228505711 c.13968G>A p.W4656X nonsense 0.00000828●●●●●●
3165. 228505715 c.13972A>G p.K4658E missense 0.00000828●●●●●●
3166. 228505728 c.13985G>C p.R4662P missense 0.00000828●●●●●●
3167. 228543869 c.18679A>G p.K6227E missense 0.00000828●●●●●●
3168. 228543870 c.18680A>C p.K6227T missense 0.00000828●●●●●●
3169. 228543885 c.18695C>G p.T6232S missense 0.00000828●●●●●●
3170. 228412272 c.2766_2768delGTG p.Trp923del inframe 0.00000828●●●●●●
3171. 228434381 c.3910_3911delGT p.Val1304AlafsTer27 frameshift 0.00000828●●●●●●
3172. 228437814 c.4182delG p.Val1396PhefsTer78 frameshift 0.00000828●●●●●●
3173. 228476558 c.10308_10309delGG p.Arg3438AspfsTer21 frameshift 0.00000828●●●●●●
3174. 228479784 c.10525delG p.Gly3509AlafsTer33 frameshift 0.00000828●●●●●●
3175. 228479859 c.10600_10601delAG p.Arg3534GlyfsTer26 frameshift 0.00000828●●●●●●
3176. 228480488 c.10867+1G>T essential splice site 0.00000828●●●●●●
3177. 228482113 c.11392delA p.Arg3798GlyfsTer8 frameshift 0.00000828●●●●●●
3178. 228482113 c.11392_11393delAG p.Arg3798GlyfsTer26 frameshift 0.00000828●●●●●●
3179. 228482631 c.11546delG p.Arg3849SerfsTer154 frameshift 0.00000828●●●●●●
3180. 228482734 c.11649_11650insA p.Thr3884AsnfsTer29 frameshift 0.00000828●●●●●●
3181. 228482741 c.11656_11657delAG p.Arg3886GlyfsTer26 frameshift 0.00000828●●●●●●
3182. 228476592 c.10339+3A>G splice site 0.00000828●●●●●●
3183. 228479869 c.10603+7A>G splice site 0.00000828●●●●●●
3184. 228479870 c.10603+8T>C splice site 0.00000828●●●●●●
3185. 228482115 c.11394G>A splice site 0.00000828●●●●●●
3186. 228482119 c.11395+3A>G splice site 0.00000828●●●●●●
3187. 228482122 c.11395+6G>T splice site 0.00000828●●●●●●
3188. 228543853 c.18663C>T splice site 0.00000828●●●●●●
3189. 228543898 c.18704+4A>C splice site 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.