RYR1 variants in ExAC

RYR1 gene summary
RYR1 variants in

The table below lists the RYR1 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. 38993372 c.7835+5A>G splice site 0.33658016●●●●●●
2. 38997459 c.8693-10G>C splice site 0.32427053●●●●●●
3. 38965952 c.4161-6T>C splice site 0.24271450●●●●●●
4. 38991640 c.7614+10C>G splice site 0.22205300●●●●●●
5. 39018277 c.10687-10C>T splice site 0.08165575●●●●●●
6. 39018280 c.10687-7C>T splice site 0.07288230●●●●●●
7. 38983180 c.6178G>T p.G2060C missense 0.06937017●●●●●●
8. 38956726 c.2871-5C>T splice site 0.04484845●●●●●●
9. 39025366 c.11266C>G p.Q3756E missense 0.03373630●●●●●●
10. 38964275 c.4024A>G p.S1342G missense 0.02214607●●●●●●
11. 38976655 c.5360C>T p.P1787L missense 0.01957103●●●●●●
12. 39018347 c.10747G>C p.E3583Q missense 0.01494159●●●●●●
13. 39037177 c.12094+11A>G splice site 0.01077220●●●●●●
14. 39010101 c.10259+7G>A splice site 0.00993271●●●●●●
15. 38946085 c.1577-6C>G splice site 0.00825303●●●●●●
16. 39019604 c.11048_11050delAGG p.Q3683_E3684delinsQ inframe 0.00802260●●●●●●
17. 39057626 c.13513G>C p.D4505H missense 0.00605212●●●●●●
18. 38965975 c.4178A>G p.K1393R missense 0.00507162●●●●●●
19. 39057615 c.13502C>T p.P4501L missense 0.00476566●●●●●●
20. 38993374 c.7835+7C>T splice site 0.00365980●●●●●●
21. 39019704 c.11141+7A>G splice site 0.00334816●●●●●●
22. 38995998 c.8360C>G p.T2787S missense 0.00331034●●●●●●
23. 38974116 c.4894C>T p.P1632S missense 0.00322412●●●●●●
24. 39055826 c.12852_12860delCACGGCGGC p.Thr4285_Ala4287del inframe 0.00320513●●●●●●
25. 38964306 c.4055C>G p.A1352G missense 0.00283326●●●●●●
26. 39006718 c.9555-9G>A splice site 0.00239034●●●●●●
27. 38964197 c.3946C>A p.P1316T missense 0.00237826●●●●●●
28. 38976294 c.4999C>T p.R1667C missense 0.00210985●●●●●●
29. 38993140 c.7615-7G>A splice site 0.00202386●●●●●●
30. 39051746 c.12283-7C>T splice site 0.00196059●●●●●●
31. 39016132 c.10616G>A p.R3539H missense 0.00179153●●●●●●
32. 38958397 c.3326G>A p.R1109K missense 0.00165825●●●●●●
33. 38997024 c.8616+7G>A splice site 0.00161588●●●●●●
34. 38976331 c.5036G>A p.R1679H missense 0.00153181●●●●●●
35. 38979903 c.5634G>C p.E1878D missense 0.00136966●●●●●●
36. 38973933 c.4711A>G p.I1571V missense 0.00133896●●●●●●
37. 39034444 c.11941C>T p.H3981Y missense 0.00125338●●●●●●
38. 38981375 c.6127+3A>G splice site 0.00114781●●●●●●
39. 38937211 c.725+6G>A splice site 0.00113704●●●●●●
40. 38976612 c.5317C>T p.P1773S missense 0.00110984●●●●●●
41. 38989881 c.7025A>G p.N2342S missense 0.00107307●●●●●●
42. 38955289 c.2797G>A p.A933T missense 0.00099256●●●●●●
43. 39019242 c.10941C>G p.H3647Q missense 0.00097442●●●●●●
44. 38998362 c.8827G>A p.D2943N missense 0.00094733●●●●●●
45. 39056355 c.13381A>T p.T4461S missense 0.00094518●●●●●●
46. 38948268 c.1923C>G p.T641T splice site 0.00093898●●●●●●
47. 38964277 c.4026C>A p.S1342R missense 0.00093643●●●●●●
48. 39009932 c.10097G>A p.R3366H missense 0.00092724●●●●●●
49. 38934191 c.271-7C>G splice site 0.00092524●●●●●●
50. 39034191 c.11798A>G p.Y3933C missense 0.00092332●●●●●●
51. 39066551 c.14130-8C>G splice site 0.00091477●●●●●●
52. 39025772 c.11360-9T>A splice site 0.00090156●●●●●●
53. 38954174 c.2682+7G>A splice site 0.00087703●●●●●●
54. 38979934 c.5665_5667delGAG p.E1889del1 inframe 0.00084614●●●●●●
55. 38942393 c.1123-11C>T splice site 0.00074755●●●●●●
56. 38995965 c.8327C>T p.S2776F missense 0.00068346●●●●●●
57. 39002893 c.9242T>C p.M3081T missense 0.00065995●●●●●●
58. 38954088 c.2603G>A p.R868H missense 0.00062014●●●●●●
59. 39002913 c.9262G>A p.V3088M missense 0.00060214●●●●●●
60. 38948887 c.2122G>A p.D708N missense 0.00058660●●●●●●
61. 38959939 c.3557-6C>T splice site 0.00056114●●●●●●
62. 38954162 c.2677G>A p.G893S missense 0.00055185●●●●●●
63. 39056196 c.13222G>C p.A4408P missense 0.00052598●●●●●●
64. 39003004 c.9353C>T p.A3118V missense 0.00052041●●●●●●
65. 38951205 c.2551G>A p.V851M missense 0.00051763●●●●●●
66. 39014545 c.10441-10G>A splice site 0.00050467●●●●●●
67. 38979895 c.5626_5628delGAG p.E1876del1 inframe 0.00047212●●●●●●
68. 38945887 c.1453A>G p.M485V missense 0.00046948●●●●●●
69. 38951020 c.2366G>A p.R789Q missense 0.00045306●●●●●●
70. 38964281 c.4030G>A p.A1344T missense 0.00044683●●●●●●
71. 39062759 c.13847C>A p.A4616D missense 0.00043656●●●●●●
72. 39009860 c.10025C>T p.A3342V missense 0.00043225●●●●●●
73. 38956968 c.3108C>A p.D1036E missense 0.00042058●●●●●●
74. 38955314 c.2822C>T p.A941V missense 0.00041318●●●●●●
75. 39006807 c.9635A>G p.E3212G missense 0.00041089●●●●●●
76. 39057611 c.13498G>A p.E4500K missense 0.00040962●●●●●●
77. 38989817 c.6961A>G p.I2321V missense 0.00038799●●●●●●
78. 39003006 c.9355C>T p.R3119C missense 0.00035520●●●●●●
79. 38968346 c.4294-4C>T splice site 0.00035515●●●●●●
80. 39066597 c.14168G>A p.R4723H missense 0.00033806●●●●●●
81. 39027398 c.11599C>T p.R3867C missense 0.00033181●●●●●●
82. 39008026 c.9713A>G p.E3238G missense 0.00032541●●●●●●
83. 38993513 c.7836-7C>T splice site 0.00031517●●●●●●
84. 38973969 c.4747C>T p.R1583C missense 0.00031334●●●●●●
85. 39061237 c.13660-10T>C splice site 0.00031315●●●●●●
86. 38948254 c.1909A>G p.I637V missense 0.00031298●●●●●●
87. 38949938 c.2320G>A p.G774R missense 0.00030561●●●●●●
88. 38931433 c.94C>T p.L32F missense 0.00029223●●●●●●
89. 39016080 c.10564C>A p.L3522M missense 0.00028128●●●●●●
90. 38931428 c.89A>T p.E30V missense 0.00028096●●●●●●
91. 38954391 c.2687G>A p.R896Q missense 0.00028013●●●●●●
92. 39056248 c.13274C>A p.A4425E missense 0.00027518●●●●●●
93. 39068642 c.14257G>A p.A4753T missense 0.00027299●●●●●●
94. 39052023 c.12553G>A p.A4185T missense 0.00026569●●●●●●
95. 38995499 c.8179G>A p.A2727T missense 0.00026372●●●●●●
96. 38974087 c.4865G>A p.R1622Q missense 0.00024546●●●●●●
97. 39066550 c.14130-9T>G splice site 0.00023899●●●●●●
98. 39055603 c.12629A>G p.K4210R missense 0.00023327●●●●●●
99. 38969101 c.4481T>C p.V1494A missense 0.00023114●●●●●●
100. 39017654 c.10648C>T p.R3550W missense 0.00023109●●●●●●
101. 39015999 c.10483_10485delAAG p.Lys3495del inframe 0.00022322●●●●●●
102. 38939015 c.821G>A p.R274H missense 0.00021940●●●●●●
103. 38935300 c.614G>C p.C205S missense 0.00021521●●●●●●
104. 38955304 c.2812G>A p.V938M missense 0.00021501●●●●●●
105. 38989882 c.7026C>T p.N2342N splice site 0.00021460●●●●●●
106. 39056240 c.13266G>C p.E4422D missense 0.00021340●●●●●●
107. 38958452 c.3381C>T p.R1127R splice site 0.00021305●●●●●●
108. 38956793 c.2933C>T p.P978L missense 0.00021054●●●●●●
109. 39071144 c.14646G>A splice site 0.00020615●●●●●●
110. 38934807 c.443C>T p.T148I missense 0.00020610●●●●●●
111. 39057618 c.13505A>G p.E4502G missense 0.00020105●●●●●●
112. 38955362 c.2870C>T p.T957M missense 0.00020011●●●●●●
113. 38996550 c.8505A>T p.E2835D missense 0.00019939●●●●●●
114. 38943477 c.1263C>A p.S421R missense 0.00019833●●●●●●
115. 39055752 c.12778_12783delGACGAG p.Glu4261_Asp4262del inframe 0.00019815●●●●●●
116. 38959729 c.3505A>C p.M1169L missense 0.00019774●●●●●●
117. 39002230 c.9152G>A p.R3051H missense 0.00019767●●●●●●
118. 38958451 c.3380G>A p.R1127H missense 0.00019567●●●●●●
119. 38974132 c.4910C>T p.A1637V missense 0.00018993●●●●●●
120. 38976616 c.5321C>T p.P1774L missense 0.00018510●●●●●●
121. 38951199 c.2545G>A p.D849N missense 0.00018330●●●●●●
122. 38987055 c.6670C>T p.R2224C missense 0.00018238●●●●●●
123. 38997165 c.8671A>C p.K2891Q missense 0.00018200●●●●●●
124. 38985019 c.6302T>A p.M2101K missense 0.00017940●●●●●●
125. 38954139 c.2654G>A p.R885H missense 0.00017703●●●●●●
126. 38964359 c.4108G>A p.A1370T missense 0.00017609●●●●●●
127. 38995716 c.8305G>A p.D2769N missense 0.00017308●●●●●●
128. 39013682 c.10274C>T p.T3425M missense 0.00017227●●●●●●
129. 39018935 c.10825-11C>A splice site 0.00016828●●●●●●
130. 38979928 c.5659G>C p.E1887Q missense 0.00016679●●●●●●
131. 38987106 c.6721C>T p.R2241X nonsense 0.00016602●●●●●●
132. 38995945 c.8311-4C>T splice site 0.00016601●●●●●●
133. 38959655 c.3431C>T p.P1144L missense 0.00016485●●●●●●
134. 39038981 c.12203A>G p.K4068R missense 0.00016473●●●●●●
135. 39055809 c.12835G>A p.A4279T missense 0.00016442●●●●●●
136. 39023384 c.11259+8G>A splice site 0.00015792●●●●●●
137. 39003036 c.9385C>T p.L3129F missense 0.00015728●●●●●●
138. 38949893 c.2275A>G p.N759D missense 0.00015657●●●●●●
139. 39006806 c.9634G>A p.E3212K missense 0.00015550●●●●●●
140. 39025421 c.11321C>T p.A3774V missense 0.00015448●●●●●●
141. 38974080 c.4858G>A p.G1620S missense 0.00015359●●●●●●
142. 38939439 c.1108G>C p.V370L missense 0.00015343●●●●●●
143. 39057590 c.13477C>G p.P4493A missense 0.00015129●●●●●●
144. 38976295 c.5000G>A p.R1667H missense 0.00015126●●●●●●
145. 38968395 c.4339G>A p.V1447M missense 0.00014872●●●●●●
146. 38990577 c.7244G>A p.R2415Q missense 0.00014861●●●●●●
147. 38987189 c.6796+8C>T splice site 0.00014381●●●●●●
148. 38987491 c.6797-9C>T splice site 0.00014292●●●●●●
149. 38994909 c.7976C>T p.T2659M missense 0.00014188●●●●●●
150. 38986846 c.6549-9C>T splice site 0.00014134●●●●●●
151. 38968461 c.4405C>T p.R1469W missense 0.00014107●●●●●●
152. 38958253 c.3182A>G p.Q1061R missense 0.00014022●●●●●●
153. 38931418 c.79G>A p.V27M missense 0.00013980●●●●●●
154. 39034526 c.12012+11C>T splice site 0.00013415●●●●●●
155. 39018329 c.10729C>T p.R3577W missense 0.00013315●●●●●●
156. 39062761 c.13849G>A p.G4617R missense 0.00013179●●●●●●
157. 39025959 c.11443A>T p.M3815L missense 0.00013179●●●●●●
158. 38943532 c.1318G>A p.V440I missense 0.00012784●●●●●●
159. 38954073 c.2588C>T p.P863L missense 0.00012749●●●●●●
160. 38954130 c.2645C>T p.A882V missense 0.00012597●●●●●●
161. 38966089 c.4292C>T p.T1431M missense 0.00012528●●●●●●
162. 39068655 c.14270G>A p.R4757H missense 0.00012455●●●●●●
163. 39002226 c.9148G>A p.V3050I missense 0.00012355●●●●●●
164. 39006720 c.9555-7C>G splice site 0.00012039●●●●●●
165. 38974038 c.4816C>T p.R1606C missense 0.00011949●●●●●●
166. 39056208 c.13234G>A p.A4412T missense 0.00011860●●●●●●
167. 38979907 c.5638G>A p.E1880K missense 0.00011640●●●●●●
168. 38934430 c.418G>A p.A140T missense 0.00011587●●●●●●
169. 39051898 c.12428C>T p.A4143V missense 0.00011569●●●●●●
170. 38960007 c.3619G>A p.V1207M missense 0.00011544●●●●●●
171. 38951104 c.2450G>A p.R817Q missense 0.00011533●●●●●●
172. 39034028 c.11731A>G p.T3911A missense 0.00011531●●●●●●
173. 38990451 c.7204C>T p.R2402W missense 0.00011518●●●●●●
174. 39055740 c.12766G>T p.E4256X nonsense 0.00011501●●●●●●
175. 38956955 c.3095G>A p.R1032H missense 0.00011352●●●●●●
176. 39056202 c.13228G>C p.E4410Q missense 0.00011254●●●●●●
177. 38974069 c.4847C>T p.T1616M missense 0.00011182●●●●●●
178. 38956856 c.2996G>A p.R999H missense 0.00011014●●●●●●
179. 38956984 c.3124G>A p.V1042M missense 0.00010996●●●●●●
180. 39056202 c.13228_13248delGAGGGCGCTGGAGACGCCGCG p.Glu4410_Ala4416del inframe 0.00010862●●●●●●
181. 39009932 c.10097G>T p.R3366L missense 0.00010860●●●●●●
182. 38934252 c.325C>T p.R109W missense 0.00010761●●●●●●
183. 38968402 c.4346C>T p.A1449V missense 0.00010743●●●●●●
184. 38937121 c.641C>T p.T214M missense 0.00010726●●●●●●
185. 38946315 c.1715A>C p.E572A missense 0.00010712●●●●●●
186. 38990388 c.7141G>A p.E2381K missense 0.00010323●●●●●●
187. 39056194 c.13220G>T p.G4407V missense 0.00010187●●●●●●
188. 38966047 c.4250C>T p.A1417V missense 0.00010174●●●●●●
189. 39008205 c.9892G>A p.A3298T missense 0.00010032●●●●●●
190. 38983214 c.6212G>A p.R2071Q missense 0.00010022●●●●●●
191. 38956988 c.3128G>A p.R1043H missense 0.00010010●●●●●●
192. 38993586 c.7902C>A p.N2634K missense 0.00009934●●●●●●
193. 38990349 c.7102C>G p.L2368V missense 0.00009921●●●●●●
194. 38951142 c.2488C>T p.R830W missense 0.00009915●●●●●●
195. 39016047 c.10531G>T p.V3511L missense 0.00009911●●●●●●
196. 39017670 c.10664A>T p.N3555I missense 0.00009906●●●●●●
197. 38942492 c.1211A>G p.H404R missense 0.00009893●●●●●●
198. 38935234 c.548C>T p.T183I missense 0.00009886●●●●●●
199. 38946112 c.1598G>A p.R533H missense 0.00009884●●●●●●
200. 38983253 c.6251G>A p.R2084Q missense 0.00009754●●●●●●
201. 39056055 c.13081T>A p.S4361T missense 0.00009682●●●●●●
202. 39056063 c.13089C>A p.F4363L missense 0.00009520●●●●●●
203. 39056154 c.13180G>A p.E4394K missense 0.00009372●●●●●●
204. 39056139 c.13165G>A p.D4389N missense 0.00009314●●●●●●
205. 38964339 c.4088C>T p.A1363V missense 0.00009294●●●●●●
206. 38964339 c.4088_4089insG p.Glu1366ArgfsTer10 frameshift 0.00009294●●●●●●
207. 38979932 c.5663A>T p.D1888V missense 0.00009181●●●●●●
208. 38985195 c.6478G>A p.G2160S missense 0.00009126●●●●●●
209. 38996459 c.8414A>C p.Y2805S missense 0.00009091●●●●●●
210. 38933022 c.199G>A p.V67I missense 0.00009071●●●●●●
211. 38959751 c.3527C>T p.T1176I missense 0.00009065●●●●●●
212. 39001164 c.8959G>C p.E2987Q missense 0.00009060●●●●●●
213. 38951037 c.2383C>T p.R795C missense 0.00009060●●●●●●
214. 38964366 c.4115C>T p.A1372V missense 0.00009025●●●●●●
215. 39026637 c.11517C>T p.S3839S splice site 0.00009023●●●●●●
216. 38964364 c.4113G>C p.R1371S missense 0.00008949●●●●●●
217. 38964261 c.4010C>T p.S1337L missense 0.00008754●●●●●●
218. 39055780 c.12806A>G p.E4269G missense 0.00008699●●●●●●
219. 38973951 c.4729G>A p.A1577T missense 0.00008669●●●●●●
220. 39016135 c.10619A>T p.Y3540F missense 0.00008611●●●●●●
221. 38931381 c.46-4G>T splice site 0.00008591●●●●●●
222. 38964258 c.4007G>A p.R1336H missense 0.00008590●●●●●●
223. 38974101 c.4879G>A p.V1627M missense 0.00008510●●●●●●
224. 39008014 c.9701A>G p.N3234S missense 0.00008389●●●●●●
225. 38993528 c.7844G>A p.R2615H missense 0.00008365●●●●●●
226. 38996546 c.8501C>G p.T2834R missense 0.00008301●●●●●●
227. 39008109 c.9796A>C p.M3266L missense 0.00008294●●●●●●
228. 38991355 c.7433C>A p.T2478N missense 0.00008281●●●●●●
229. 38990562 c.7229C>T p.P2410L missense 0.00008265●●●●●●
230. 38991503 c.7487C>T p.P2496L missense 0.00008263●●●●●●
231. 38934268 c.341G>A p.R114H missense 0.00008262●●●●●●
232. 39038878 c.12100G>A p.V4034M missense 0.00008251●●●●●●
233. 39038965 c.12187A>G p.M4063V missense 0.00008237●●●●●●
234. 38948185 c.1840C>T p.R614C missense 0.00008236●●●●●●
235. 38991629 c.7613C>T p.T2538M missense 0.00007984●●●●●●
236. 39006843 c.9671C>T p.P3224L missense 0.00007967●●●●●●
237. 38934195 c.271-3C>T splice site 0.00007916●●●●●●
238. 38955346 c.2854A>T p.T952S missense 0.00007874●●●●●●
239. 39006845 c.9673C>T p.R3225W missense 0.00007791●●●●●●
240. 39013682 c.10274C>G p.T3425R missense 0.00007656●●●●●●
241. 38964152 c.3901C>T p.R1301C missense 0.00007564●●●●●●
242. 39008208 c.9895G>A p.G3299S missense 0.00007520●●●●●●
243. 39008172 c.9859C>T p.R3287C missense 0.00007515●●●●●●
244. 38985264 c.6547G>A p.G2183R missense 0.00007485●●●●●●
245. 39009877 c.10042C>T p.R3348C missense 0.00007475●●●●●●
246. 38993538 c.7854G>A p.M2618I missense 0.00007475●●●●●●
247. 39018368 c.10768G>A p.E3590K missense 0.00007458●●●●●●
248. 38948696 c.1931G>A p.R644H missense 0.00007441●●●●●●
249. 39016001 c.10485G>C p.K3495N missense 0.00007441●●●●●●
250. 38946368 c.1768G>T p.D590Y missense 0.00007423●●●●●●
251. 38959779 c.3555C>T p.D1185D splice site 0.00007419●●●●●●
252. 38934811 c.447G>A p.M149I missense 0.00007419●●●●●●
253. 39039029 c.12251G>A p.R4084H missense 0.00007414●●●●●●
254. 38956903 c.3043C>T p.R1015C missense 0.00007121●●●●●●
255. 38964203 c.3952G>A p.A1318T missense 0.00007064●●●●●●
256. 38958450 c.3379C>T p.R1127C missense 0.00006804●●●●●●
257. 38993514 c.7836-6C>T splice site 0.00006798●●●●●●
258. 39057593 c.13480G>A p.E4494K missense 0.00006779●●●●●●
259. 38976582 c.5287C>T p.P1763S missense 0.00006719●●●●●●
260. 39008199 c.9886C>G p.L3296V missense 0.00006688●●●●●●
261. 38990455 c.7208G>A p.R2403H missense 0.00006684●●●●●●
262. 39008209 c.9896G>T p.G3299V missense 0.00006681●●●●●●
263. 38987127 c.6742C>T p.R2248C missense 0.00006648●●●●●●
264. 39008085 c.9772G>A p.E3258K missense 0.00006640●●●●●●
265. 39027396 c.11597A>G p.N3866S missense 0.00006634●●●●●●
266. 38989766 c.6910G>A p.G2304S missense 0.00006620●●●●●●
267. 38960080 c.3692G>A p.R1231H missense 0.00006615●●●●●●
268. 38933074 c.251C>T p.T84M missense 0.00006614●●●●●●
269. 38932982 c.166-7_166-6insC splice site 0.00006613●●●●●●
270. 38981268 c.6023T>C p.M2008T missense 0.00006611●●●●●●
271. 38959772 c.3548T>C p.I1183T missense 0.00006593●●●●●●
272. 39062680 c.13768G>A p.E4590K missense 0.00006591●●●●●●
273. 38946103 c.1589G>A p.R530H missense 0.00006589●●●●●●
274. 39025966 c.11450A>T p.D3817V missense 0.00006589●●●●●●
275. 39001381 c.9082G>A p.G3028S missense 0.00006589●●●●●●
276. 39001292 c.9001-8G>A splice site 0.00006589●●●●●●
277. 39055750 c.12776C>G p.T4259S missense 0.00006472●●●●●●
278. 39057626 c.13513G>A p.D4505N missense 0.00006461●●●●●●
279. 38995968 c.8330A>G p.Y2777C missense 0.00006435●●●●●●
280. 38943500 c.1286C>T p.P429L missense 0.00006390●●●●●●
281. 39068843 c.14363A>G p.N4788S missense 0.00006389●●●●●●
282. 38964215 c.3964G>T p.A1322S missense 0.00006337●●●●●●
283. 39010104 c.10259+10G>A splice site 0.00006221●●●●●●
284. 39025369 c.11269A>G p.M3757V missense 0.00006211●●●●●●
285. 38943464 c.1250T>C p.L417P missense 0.00006085●●●●●●
286. 38966014 c.4217C>T p.T1406M missense 0.00006012●●●●●●
287. 38948941 c.2167+9C>T splice site 0.00006012●●●●●●
288. 39006727 c.9555G>C p.K3185N missense 0.00006002●●●●●●
289. 39006743 c.9571G>A p.G3191R missense 0.00005967●●●●●●
290. 38964011 c.3766-6C>A splice site 0.00005946●●●●●●
291. 39006758 c.9586C>T p.R3196C missense 0.00005910●●●●●●
292. 39005755 c.9554+8G>A splice site 0.00005908●●●●●●
293. 38939015 c.821G>C p.R274P missense 0.00005907●●●●●●
294. 38985102 c.6385G>A p.D2129N missense 0.00005870●●●●●●
295. 39003117 c.9466G>A p.V3156I missense 0.00005869●●●●●●
296. 39008187 c.9874C>T p.P3292S missense 0.00005862●●●●●●
297. 39018432 c.10824+8G>A splice site 0.00005842●●●●●●
298. 38964289 c.4038C>G p.N1346K missense 0.00005836●●●●●●
299. 38939041 c.847C>T p.H283Y missense 0.00005835●●●●●●
300. 38987141 c.6756C>A p.D2252E missense 0.00005824●●●●●●
301. 39008113 c.9800C>T p.P3267L missense 0.00005808●●●●●●
302. 39051780 c.12310G>A p.G4104S missense 0.00005801●●●●●●
303. 38948797 c.2032G>A p.A678T missense 0.00005800●●●●●●
304. 38959613 c.3389G>A p.R1130H missense 0.00005790●●●●●●
305. 39076777 c.14915C>T p.T4972I missense 0.00005787●●●●●●
306. 38934267 c.340C>T p.R114C missense 0.00005784●●●●●●
307. 39051868 c.12398A>G p.E4133G missense 0.00005782●●●●●●
308. 39013952 c.10440+3C>T splice site 0.00005781●●●●●●
309. 38968362 c.4306G>A p.V1436M missense 0.00005780●●●●●●
310. 39076763 c.14901C>G p.D4967E missense 0.00005779●●●●●●
311. 38942452 c.1171C>T p.R391C missense 0.00005778●●●●●●
312. 38996486 c.8441A>G p.K2814R missense 0.00005773●●●●●●
313. 38995711 c.8300C>T p.A2767V missense 0.00005768●●●●●●
314. 39039028 c.12250C>T p.R4084C missense 0.00005767●●●●●●
315. 39001400 c.9101A>C p.K3034T missense 0.00005766●●●●●●
316. 39028579 c.11668C>A p.L3890I missense 0.00005766●●●●●●
317. 39006777 c.9605C>T p.P3202L missense 0.00005739●●●●●●
318. 39026638 c.11518G>A p.V3840I missense 0.00005375●●●●●●
319. 38957035 c.3175C>T p.P1059S missense 0.00005371●●●●●●
320. 39068824 c.14344G>A p.G4782R missense 0.00005318●●●●●●
321. 38966033 c.4236C>G p.H1412Q missense 0.00005252●●●●●●
322. 39068785 c.14305C>T p.L4769F missense 0.00005237●●●●●●
323. 38976783 c.5488G>A p.V1830I missense 0.00005227●●●●●●
324. 39057597 c.13484C>T p.P4495L missense 0.00005176●●●●●●
325. 38993204 c.7672G>A p.V2558M missense 0.00005152●●●●●●
326. 39063948 c.14129+1G>A essential splice site 0.00005145●●●●●●
327. 38983264 c.6262G>A p.E2088K missense 0.00005140●●●●●●
328. 38939439 c.1108G>A p.V370M missense 0.00005114●●●●●●
329. 38993351 c.7819C>T p.L2607F missense 0.00005110●●●●●●
330. 38964104 c.3853A>G p.M1285V missense 0.00005094●●●●●●
331. 38954079 c.2594A>T p.H865L missense 0.00005052●●●●●●
332. 38987115 c.6730C>T p.R2244W missense 0.00004984●●●●●●
333. 39009917 c.10082C>T p.T3361I missense 0.00004983●●●●●●
334. 38939066 c.872C>T p.A291V missense 0.00004979●●●●●●
335. 39071022 c.14524G>A p.V4842M missense 0.00004977●●●●●●
336. 39018360 c.10760A>G p.D3587G missense 0.00004974●●●●●●
337. 38997596 c.8816+4C>T splice site 0.00004974●●●●●●
338. 39014565 c.10451T>C p.I3484T missense 0.00004968●●●●●●
339. 38939101 c.907G>A p.A303T missense 0.00004965●●●●●●
340. 38958423 c.3352G>A p.E1118K missense 0.00004965●●●●●●
341. 38980770 c.5869T>A p.S1957T missense 0.00004964●●●●●●
342. 38951154 c.2500C>T p.R834W missense 0.00004964●●●●●●
343. 39070771 c.14511+3G>A splice site 0.00004963●●●●●●
344. 39016009 c.10493G>A p.R3498H missense 0.00004959●●●●●●
345. 38932985 c.166-4C>T splice site 0.00004956●●●●●●
346. 38983186 c.6184C>T p.R2062C missense 0.00004955●●●●●●
347. 38989883 c.7027G>A p.G2343S missense 0.00004953●●●●●●
348. 38989877 c.7021G>A p.V2341I missense 0.00004952●●●●●●
349. 38989887 c.7027+4A>T splice site 0.00004952●●●●●●
350. 39058463 c.13565C>T p.P4522L missense 0.00004951●●●●●●
351. 39078032 c.15089G>A p.R5030H missense 0.00004950●●●●●●
352. 39013867 c.10358G>A p.R3453H missense 0.00004948●●●●●●
353. 39037100 c.12028G>A p.E4010K missense 0.00004946●●●●●●
354. 38954417 c.2713T>G p.C905G missense 0.00004945●●●●●●
355. 39062839 c.13927G>A p.A4643T missense 0.00004943●●●●●●
356. 39062845 c.13933C>T p.R4645W missense 0.00004943●●●●●●
357. 39028594 c.11683A>G p.N3895D missense 0.00004943●●●●●●
358. 39033988 c.11691T>C p.D3897D splice site 0.00004942●●●●●●
359. 38948228 c.1883G>A p.R628H missense 0.00004942●●●●●●
360. 39001390 c.9091G>A p.A3031T missense 0.00004942●●●●●●
361. 39006815 c.9643G>A p.A3215T missense 0.00004912●●●●●●
362. 38931491 c.152C>A p.T51N missense 0.00004856●●●●●●
363. 38931381 c.46-4G>A splice site 0.00004773●●●●●●
364. 38990400 c.7153C>T p.R2385C missense 0.00004733●●●●●●
365. 38993375 c.7835+8G>A splice site 0.00004732●●●●●●
366. 38956780 c.2920G>A p.V974M missense 0.00004723●●●●●●
367. 39013699 c.10291G>A p.A3431T missense 0.00004722●●●●●●
368. 39010064 c.10229C>T p.P3410L missense 0.00004682●●●●●●
369. 39013688 c.10280C>T p.P3427L missense 0.00004664●●●●●●
370. 38956725 c.2871-6C>T splice site 0.00004604●●●●●●
371. 38983276 c.6274C>T p.R2092W missense 0.00004547●●●●●●
372. 38956907 c.3047G>A p.R1016Q missense 0.00004528●●●●●●
373. 38973979 c.4757C>T p.P1586L missense 0.00004489●●●●●●
374. 38973985 c.4763C>T p.P1588L missense 0.00004476●●●●●●
375. 38973970 c.4748G>A p.R1583H missense 0.00004470●●●●●●
376. 39010054 c.10219G>A p.A3407T missense 0.00004461●●●●●●
377. 38974117 c.4895C>T p.P1632L missense 0.00004390●●●●●●
378. 38990276 c.7029C>T p.G2343G splice site 0.00004362●●●●●●
379. 38973956 c.4734G>A p.M1578I missense 0.00004360●●●●●●
380. 39026677 c.11557G>A p.E3853K missense 0.00004323●●●●●●
381. 38973954 c.4732A>G p.M1578V missense 0.00004319●●●●●●
382. 39057625 c.13512C>T p.A4504A splice site 0.00004263●●●●●●
383. 38949974 c.2356G>A p.V786I missense 0.00004252●●●●●●
384. 38974016 c.4794G>A p.M1598I missense 0.00004249●●●●●●
385. 38937415 c.800+7C>T splice site 0.00004247●●●●●●
386. 38934210 c.283G>A p.G95R missense 0.00004230●●●●●●
387. 38954138 c.2653C>T p.R885C missense 0.00004211●●●●●●
388. 38993520 c.7836G>A splice site 0.00004204●●●●●●
389. 38939430 c.1099C>T p.R367W missense 0.00004195●●●●●●
390. 38948839 c.2074A>G p.T692A missense 0.00004188●●●●●●
391. 39055705 c.12731T>C p.M4244T missense 0.00004186●●●●●●
392. 38980710 c.5815-6C>G splice site 0.00004186●●●●●●
393. 38993301 c.7769C>T p.S2590F missense 0.00004183●●●●●●
394. 38934223 c.296C>T p.T99M missense 0.00004179●●●●●●
395. 38939039 c.845G>A p.R282Q missense 0.00004171●●●●●●
396. 38989737 c.6892-11T>C splice site 0.00004170●●●●●●
397. 38991258 c.7336G>A p.G2446S missense 0.00004161●●●●●●
398. 39009851 c.10019-3_10019-2insA splice site 0.00004160●●●●●●
399. 39008071 c.9758T>C p.I3253T missense 0.00004153●●●●●●
400. 39034423 c.11920G>A p.G3974R missense 0.00004152●●●●●●
401. 38987085 c.6700C>T p.R2234C missense 0.00004146●●●●●●
402. 38939074 c.880G>A p.E294K missense 0.00004145●●●●●●
403. 39010043 c.10208G>A p.R3403Q missense 0.00004144●●●●●●
404. 39051792 c.12322C>G p.Q4108E missense 0.00004139●●●●●●
405. 39014556 c.10442C>T p.A3481V missense 0.00004137●●●●●●
406. 39076780 c.14918C>T p.P4973L missense 0.00004136●●●●●●
407. 38954471 c.2767A>G p.M923V missense 0.00004134●●●●●●
408. 38986905 c.6599C>T p.A2200V missense 0.00004132●●●●●●
409. 39016012 c.10496G>C p.R3499P missense 0.00004132●●●●●●
410. 38948717 c.1952G>A p.R651Q missense 0.00004132●●●●●●
411. 39025835 c.11414A>G p.N3805S missense 0.00004132●●●●●●
412. 38997528 c.8752C>G p.R2918G missense 0.00004131●●●●●●
413. 39076774 c.14912C>T p.T4971M missense 0.00004131●●●●●●
414. 39013953 c.10440+4G>A splice site 0.00004130●●●●●●
415. 39016036 c.10520C>T p.T3507M missense 0.00004130●●●●●●
416. 39016047 c.10531G>A p.V3511M missense 0.00004130●●●●●●
417. 38989827 c.6971A>G p.N2324S missense 0.00004128●●●●●●
418. 39058445 c.13547A>G p.E4516G missense 0.00004127●●●●●●
419. 38969109 c.4489G>A p.G1497R missense 0.00004127●●●●●●
420. 38979868 c.5599G>C p.E1867Q missense 0.00004127●●●●●●
421. 38989845 c.6989G>A p.R2330H missense 0.00004127●●●●●●
422. 38990601 c.7268T>A p.M2423K missense 0.00004126●●●●●●
423. 38949821 c.2203C>T p.H735Y missense 0.00004124●●●●●●
424. 39002776 c.9233+4delG splice site 0.00004124●●●●●●
425. 39019279 c.10978G>C p.A3660P missense 0.00004122●●●●●●
426. 38949863 c.2245C>G p.L749V missense 0.00004121●●●●●●
427. 38946335 c.1735G>A p.E579K missense 0.00004121●●●●●●
428. 38949869 c.2251G>A p.V751M missense 0.00004121●●●●●●
429. 39062672 c.13760C>T p.P4587L missense 0.00004120●●●●●●
430. 38959666 c.3442G>A p.V1148I missense 0.00004120●●●●●●
431. 38995413 c.8093T>C p.M2698T missense 0.00004120●●●●●●
432. 38958328 c.3257G>A p.R1086H missense 0.00004120●●●●●●
433. 38995433 c.8113G>A p.A2705T missense 0.00004120●●●●●●
434. 39063817 c.13999G>C p.V4667L missense 0.00004120●●●●●●
435. 39062846 c.13934G>A p.R4645Q missense 0.00004119●●●●●●
436. 39071100 c.14602G>A p.E4868K missense 0.00004119●●●●●●
437. 38946169 c.1655G>A p.R552Q missense 0.00004119●●●●●●
438. 38951022 c.2368T>C p.F790L missense 0.00004119●●●●●●
439. 39061277 c.13690C>T p.R4564W missense 0.00004118●●●●●●
440. 39062798 c.13886T>C p.V4629A missense 0.00004118●●●●●●
441. 38964254 c.4003C>T p.R1335C missense 0.00004103●●●●●●
442. 38964255 c.4004G>A p.R1335H missense 0.00004102●●●●●●
443. 38931451 c.112G>A p.A38T missense 0.00004092●●●●●●
444. 38943487 c.1273C>T p.R425W missense 0.00004041●●●●●●
445. 38974086 c.4864C>T p.R1622W missense 0.00004025●●●●●●
446. 38993163 c.7631C>G p.T2544S missense 0.00003924●●●●●●
447. 39006846 c.9674G>A p.R3225Q missense 0.00003828●●●●●●
448. 39019604 c.11048_11050dupAGG p.Glu3684dup inframe 0.00003784●●●●●●
449. 39006851 c.9679C>T p.R3227W missense 0.00003720●●●●●●
450. 38974053 c.4831T>G p.F1611V missense 0.00003701●●●●●●
451. 38956790 c.2930C>T p.T977M missense 0.00003693●●●●●●
452. 38956984 c.3124G>T p.V1042L missense 0.00003665●●●●●●
453. 39055596 c.12625-3C>G splice site 0.00003645●●●●●●
454. 38974063 c.4841T>C p.V1614A missense 0.00003642●●●●●●
455. 38965950 c.4161-8A>G splice site 0.00003629●●●●●●
456. 38990346 c.7099G>A p.A2367T missense 0.00003606●●●●●●
457. 39055693 c.12719C>G p.T4240S missense 0.00003581●●●●●●
458. 38956901 c.3041C>T p.A1014V missense 0.00003539●●●●●●
459. 38976679 c.5384C>T p.P1795L missense 0.00003503●●●●●●
460. 38990286 c.7039G>A p.E2347K missense 0.00003468●●●●●●
461. 38954166 c.2681C>T p.P894L missense 0.00003466●●●●●●
462. 38990299 c.7052A>G p.N2351S missense 0.00003462●●●●●●
463. 38939445 c.1114_1116delAAG p.K372del1 inframe 0.00003449●●●●●●
464. 38956882 c.3022G>A p.A1008T missense 0.00003427●●●●●●
465. 38985018 c.6301A>G p.M2101V missense 0.00003418●●●●●●
466. 38987597 c.6891+3G>T splice site 0.00003400●●●●●●
467. 38956816 c.2956C>T p.R986C missense 0.00003395●●●●●●
468. 38948881 c.2116G>A p.V706I missense 0.00003391●●●●●●
469. 38939436 c.1105G>A p.G369S missense 0.00003389●●●●●●
470. 38956850 c.2990G>A p.R997Q missense 0.00003386●●●●●●
471. 38968500 c.4444G>A p.V1482I missense 0.00003371●●●●●●
472. 38987541 c.6838G>A p.V2280I missense 0.00003366●●●●●●
473. 38987181 c.6796G>C p.G2266R missense 0.00003366●●●●●●
474. 38976328 c.5033A>G p.N1678S missense 0.00003365●●●●●●
475. 38987515 c.6812C>T p.T2271M missense 0.00003363●●●●●●
476. 38993319 c.7787C>G p.T2596S missense 0.00003354●●●●●●
477. 39008339 c.10018+8G>A splice site 0.00003350●●●●●●
478. 38985124 c.6407G>A p.R2136H missense 0.00003346●●●●●●
479. 38993288 c.7756G>A p.V2586M missense 0.00003346●●●●●●
480. 39016117 c.10601C>T p.T3534M missense 0.00003345●●●●●●
481. 39010076 c.10241G>A p.R3414H missense 0.00003339●●●●●●
482. 38985135 c.6418C>T p.R2140W missense 0.00003339●●●●●●
483. 38983213 c.6211C>T p.R2071W missense 0.00003336●●●●●●
484. 39018330 c.10730G>A p.R3577Q missense 0.00003328●●●●●●
485. 38979912 c.5643G>C p.E1881D missense 0.00003327●●●●●●
486. 39008322 c.10009C>G p.R3337G missense 0.00003326●●●●●●
487. 39003064 c.9413C>T p.P3138L missense 0.00003323●●●●●●
488. 38948809 c.2044C>T p.R682W missense 0.00003321●●●●●●
489. 38951185 c.2531G>A p.C844Y missense 0.00003319●●●●●●
490. 39008131 c.9818C>T p.T3273M missense 0.00003319●●●●●●
491. 39027401 c.11602C>T p.Q3868X nonsense 0.00003318●●●●●●
492. 39051787 c.12317delA p.Ile4107SerfsTer15 frameshift 0.00003313●●●●●●
493. 39076783 c.14921A>G p.H4974R missense 0.00003309●●●●●●
494. 39051819 c.12349G>A p.D4117N missense 0.00003308●●●●●●
495. 39051820 c.12350A>T p.D4117V missense 0.00003308●●●●●●
496. 38993557 c.7873C>T p.R2625C missense 0.00003307●●●●●●
497. 39010075 c.10240C>T p.R3414C missense 0.00003306●●●●●●
498. 39016008 c.10492C>G p.R3498G missense 0.00003306●●●●●●
499. 39008266 c.9953A>G p.N3318S missense 0.00003306●●●●●●
500. 38986923 c.6617C>T p.T2206M missense 0.00003305●●●●●●
501. 39051963 c.12493C>A p.L4165M missense 0.00003305●●●●●●
502. 38948720 c.1955C>T p.A652V missense 0.00003305●●●●●●
503. 38996461 c.8416C>T p.R2806C missense 0.00003305●●●●●●
504. 39051879 c.12409G>A p.D4137N missense 0.00003304●●●●●●
505. 39016021 c.10505G>A p.R3502Q missense 0.00003304●●●●●●
506. 38946390 c.1790A>G p.K597R missense 0.00003304●●●●●●
507. 38949791 c.2173G>A p.V725M missense 0.00003302●●●●●●
508. 39019059 c.10937+1G>C essential splice site 0.00003302●●●●●●
509. 39058463 c.13565C>G p.P4522R missense 0.00003300●●●●●●
510. 39013931 c.10422C>G p.N3474K missense 0.00003300●●●●●●
511. 39058466 c.13568A>G p.K4523R missense 0.00003300●●●●●●
512. 38939313 c.982C>T p.R328W missense 0.00003299●●●●●●
513. 39002950 c.9299C>T p.S3100L missense 0.00003299●●●●●●
514. 38958390 c.3319G>A p.E1107K missense 0.00003299●●●●●●
515. 38959643 c.3419G>A p.R1140H missense 0.00003299●●●●●●
516. 38981366 c.6121C>T p.H2041Y missense 0.00003299●●●●●●
517. 39019255 c.10954A>G p.M3652V missense 0.00003299●●●●●●
518. 38934782 c.425-7C>T splice site 0.00003299●●●●●●
519. 38958279 c.3208C>T p.R1070W missense 0.00003298●●●●●●
520. 39001428 c.9122+7C>T splice site 0.00003297●●●●●●
521. 39070731 c.14474G>A p.R4825H missense 0.00003297●●●●●●
522. 38996975 c.8574_8575insC p.Asp2861ArgfsTer3 frameshift 0.00003297●●●●●●
523. 39001429 c.9122+8G>A splice site 0.00003297●●●●●●
524. 39070725 c.14468C>T p.T4823M missense 0.00003296●●●●●●
525. 38958327 c.3256C>T p.R1086C missense 0.00003296●●●●●●
526. 38995398 c.8078C>T p.P2693L missense 0.00003296●●●●●●
527. 38973657 c.4621-10C>G splice site 0.00003296●●●●●●
528. 38995482 c.8162C>T p.S2721F missense 0.00003296●●●●●●
529. 39063838 c.14020C>T p.R4674W missense 0.00003296●●●●●●
530. 39057576 c.13463C>T p.P4488L missense 0.00003295●●●●●●
531. 38951101 c.2447C>T p.P816L missense 0.00003295●●●●●●
532. 38946102 c.1588C>T p.R530C missense 0.00003295●●●●●●
533. 39028526 c.11615A>C p.K3872T missense 0.00003295●●●●●●
534. 39034023 c.11726C>T p.T3909M missense 0.00003295●●●●●●
535. 39038988 c.12210T>G p.I4070M missense 0.00003295●●●●●●
536. 39061326 c.13739T>A p.F4580Y missense 0.00003295●●●●●●
537. 39062754 c.13842G>T p.L4614F missense 0.00003295●●●●●●
538. 39057576 c.13463_13464insGCCAGA p.Pro4488_Pro4489insProGlu inframe 0.00003295●●●●●●
539. 38943459 c.1245G>C p.K415N missense 0.00003293●●●●●●
540. 38931463 c.124G>A p.G42S missense 0.00003047●●●●●●
541. 38931461 c.122T>C p.F41S missense 0.00003043●●●●●●
542. 39009989 c.10154C>T p.A3385V missense 0.00003038●●●●●●
543. 38964234 c.3983A>G p.D1328G missense 0.00003032●●●●●●
544. 39055615 c.12641G>A p.R4214H missense 0.00002994●●●●●●
545. 38980919 c.6015+3C>G splice site 0.00002860●●●●●●
546. 38990457 c.7210G>A p.E2404K missense 0.00002849●●●●●●
547. 38955299 c.2807G>T p.C936F missense 0.00002818●●●●●●
548. 38956915 c.3055C>T p.R1019W missense 0.00002811●●●●●●
549. 39009974 c.10139G>A p.R3380H missense 0.00002791●●●●●●
550. 39055662 c.12688A>G p.M4230V missense 0.00002783●●●●●●
551. 38943512 c.1298C>T p.T433M missense 0.00002751●●●●●●
552. 39010042 c.10207C>T p.R3403W missense 0.00002749●●●●●●
553. 38964186 c.3935C>T p.P1312L missense 0.00002715●●●●●●
554. 39055635 c.12661G>C p.V4221L missense 0.00002701●●●●●●
555. 39055635 c.12661G>A p.V4221M missense 0.00002701●●●●●●
556. 39010039 c.10204T>G p.C3402G missense 0.00002697●●●●●●
557. 38939457 c.1122+4G>T splice site 0.00002688●●●●●●
558. 39055641 c.12667G>C p.E4223Q missense 0.00002674●●●●●●
559. 39026698 c.11578G>A p.E3860K missense 0.00002655●●●●●●
560. 39009961 c.10126G>A p.E3376K missense 0.00002640●●●●●●
561. 38968516 c.4454+6G>A splice site 0.00002636●●●●●●
562. 38976753 c.5458C>T p.R1820C missense 0.00002622●●●●●●
563. 39068794 c.14314A>G p.I4772V missense 0.00002617●●●●●●
564. 38990310 c.7063C>T p.R2355W missense 0.00002608●●●●●●
565. 38990311 c.7064G>A p.R2355Q missense 0.00002608●●●●●●
566. 38980896 c.5995C>T p.R1999C missense 0.00002600●●●●●●
567. 39016137 c.10621G>A p.A3541T missense 0.00002598●●●●●●
568. 39026659 c.11539G>C p.E3847Q missense 0.00002586●●●●●●
569. 38955338 c.2846T>C p.L949P missense 0.00002577●●●●●●
570. 38948905 c.2140G>A p.G714S missense 0.00002563●●●●●●
571. 39010024 c.10189G>A p.E3397K missense 0.00002552●●●●●●
572. 38956858 c.2998G>A p.V1000M missense 0.00002543●●●●●●
573. 38980882 c.5981G>A p.R1994H missense 0.00002542●●●●●●
574. 38985048 c.6331G>A p.V2111M missense 0.00002540●●●●●●
575. 38956826 c.2966A>G p.E989G missense 0.00002538●●●●●●
576. 38976634 c.5339C>A p.P1780H missense 0.00002538●●●●●●
577. 38993231 c.7699C>T p.P2567S missense 0.00002536●●●●●●
578. 38956845 c.2985G>C p.W995C missense 0.00002536●●●●●●
579. 38964080 c.3829G>A p.G1277S missense 0.00002529●●●●●●
580. 38987526 c.6823G>A p.V2275M missense 0.00002528●●●●●●
581. 38966056 c.4259G>A p.R1420H missense 0.00002526●●●●●●
582. 38993243 c.7711G>A p.G2571S missense 0.00002524●●●●●●
583. 38987554 c.6851A>G p.N2284S missense 0.00002523●●●●●●
584. 39013755 c.10347C>T p.H3449H splice site 0.00002522●●●●●●
585. 39003123 c.9472C>T splice site 0.00002520●●●●●●
586. 39051744 c.12283-9C>T splice site 0.00002519●●●●●●
587. 38976387 c.5092G>A p.E1698K missense 0.00002519●●●●●●
588. 38985076 c.6359T>C p.M2120T missense 0.00002518●●●●●●
589. 38976258 c.4963C>T p.R1655C missense 0.00002517●●●●●●
590. 38993319 c.7787C>T p.T2596I missense 0.00002515●●●●●●
591. 39008016 c.9703A>C p.S3235R missense 0.00002515●●●●●●
592. 38954094 c.2609G>A p.R870Q missense 0.00002511●●●●●●
593. 38993286 c.7754C>T p.T2585I missense 0.00002510●●●●●●
594. 39003113 c.9462T>A p.D3154E missense 0.00002510●●●●●●
595. 39013763 c.10347+8C>T splice site 0.00002510●●●●●●
596. 38993295 c.7763G>A p.R2588H missense 0.00002509●●●●●●
597. 39003108 c.9457G>A p.G3153R missense 0.00002507●●●●●●
598. 39009931 c.10096C>A p.R3366S missense 0.00002504●●●●●●
599. 38996559 c.8514A>C p.K2838N missense 0.00002500●●●●●●
600. 39008214 c.9901C>A p.P3301T missense 0.00002500●●●●●●
601. 38983210 c.6208G>A p.V2070M missense 0.00002499●●●●●●
602. 38939044 c.850G>A p.V284I missense 0.00002498●●●●●●
603. 38937374 c.766C>T p.R256C missense 0.00002498●●●●●●
604. 39068660 c.14275C>T p.P4759S missense 0.00002497●●●●●●
605. 38939053 c.859G>A p.G287R missense 0.00002495●●●●●●
606. 38939053 c.859G>C p.G287R missense 0.00002495●●●●●●
607. 39005707 c.9514A>G p.I3172V missense 0.00002495●●●●●●
608. 38985263 c.6546C>T splice site 0.00002495●●●●●●
609. 39009859 c.10024G>A p.A3342T missense 0.00002494●●●●●●
610. 38939422 c.1091A>G p.K364R missense 0.00002492●●●●●●
611. 38985232 c.6515C>A p.P2172H missense 0.00002491●●●●●●
612. 38954484 c.2780C>T p.T927M missense 0.00002490●●●●●●
613. 38980749 c.5848G>C p.E1950Q missense 0.00002489●●●●●●
614. 39027399 c.11600G>A p.R3867H missense 0.00002489●●●●●●
615. 38956954 c.3094C>T p.R1032C missense 0.00002487●●●●●●
616. 39062913 c.13998+3G>A splice site 0.00002487●●●●●●
617. 39078052 c.15109C>T p.L5037F missense 0.00002484●●●●●●
618. 38968446 c.4390G>A p.D1464N missense 0.00002484●●●●●●
619. 38991462 c.7446T>C p.D2482D splice site 0.00002484●●●●●●
620. 38993588 c.7904A>T p.E2635V missense 0.00002484●●●●●●
621. 38969230 c.4610C>A p.T1537N missense 0.00002482●●●●●●
622. 38939409 c.1078G>A p.A360T missense 0.00002481●●●●●●
623. 38993572 c.7888G>A p.V2630M missense 0.00002481●●●●●●
624. 39019235 c.10938-4G>A splice site 0.00002480●●●●●●
625. 39017687 c.10681G>A p.G3561R missense 0.00002480●●●●●●
626. 38937350 c.742G>C p.G248R missense 0.00002479●●●●●●
627. 38990633 c.7300G>A p.G2434R missense 0.00002479●●●●●●
628. 39003007 c.9356G>A p.R3119H missense 0.00002479●●●●●●
629. 38989788 c.6932C>T p.P2311L missense 0.00002479●●●●●●
630. 38980792 c.5891G>A p.R1964H missense 0.00002479●●●●●●
631. 38991498 c.7482C>G p.F2494L missense 0.00002479●●●●●●
632. 39051876 c.12406C>A p.R4136S missense 0.00002478●●●●●●
633. 38979871 c.5602C>G p.P1868A missense 0.00002478●●●●●●
634. 39016042 c.10526T>C p.L3509P missense 0.00002478●●●●●●
635. 39013956 c.10440+7G>A splice site 0.00002478●●●●●●
636. 38942444 c.1163C>T p.S388L missense 0.00002477●●●●●●
637. 38990576 c.7243C>G p.R2415G missense 0.00002477●●●●●●
638. 39068624 c.14239G>A p.A4747T missense 0.00002477●●●●●●
639. 39017628 c.10627-5C>T splice site 0.00002477●●●●●●
640. 38949797 c.2179C>T p.R727C missense 0.00002476●●●●●●
641. 39019315 c.11014C>A p.R3672S missense 0.00002476●●●●●●
642. 39062884 c.13972T>C p.C4658R missense 0.00002476●●●●●●
643. 38990594 c.7261G>T p.A2421S missense 0.00002475●●●●●●
644. 39013851 c.10348-6C>G splice site 0.00002475●●●●●●
645. 38934374 c.362C>G p.T121S missense 0.00002475●●●●●●
646. 38983127 c.6128-3C>T splice site 0.00002475●●●●●●
647. 38958382 c.3311C>T p.A1104V missense 0.00002474●●●●●●
648. 39066596 c.14167C>T p.R4723C missense 0.00002474●●●●●●
649. 38949910 c.2292G>C p.Q764H missense 0.00002474●●●●●●
650. 38969139 c.4519C>T p.R1507W missense 0.00002474●●●●●●
651. 38969152 c.4532C>T p.T1511M missense 0.00002474●●●●●●
652. 39066561 c.14132C>G p.S4711C missense 0.00002473●●●●●●
653. 38946339 c.1739A>G p.N580S missense 0.00002473●●●●●●
654. 38958271 c.3200G>A p.R1067H missense 0.00002473●●●●●●
655. 38958294 c.3223C>T p.R1075W missense 0.00002473●●●●●●
656. 38954415 c.2711C>T p.P904L missense 0.00002473●●●●●●
657. 38958280 c.3209G>A p.R1070Q missense 0.00002473●●●●●●
658. 38959718 c.3494G>A p.G1165D missense 0.00002472●●●●●●
659. 39038899 c.12121C>T p.R4041W missense 0.00002472●●●●●●
660. 38954401 c.2697C>A p.N899K missense 0.00002472●●●●●●
661. 38951121 c.2467G>C p.E823Q missense 0.00002472●●●●●●
662. 38954387 c.2683G>A p.V895I missense 0.00002472●●●●●●
663. 39037136 c.12064A>G p.M4022V missense 0.00002472●●●●●●
664. 39078004 c.15061G>T p.D5021Y missense 0.00002472●●●●●●
665. 39034060 c.11763C>A p.Y3921X nonsense 0.00002471●●●●●●
666. 39039020 c.12242C>T p.T4081M missense 0.00002471●●●●●●
667. 38948186 c.1841G>A p.R614H missense 0.00002471●●●●●●
668. 39062779 c.13867G>A p.D4623N missense 0.00002471●●●●●●
669. 39077160 c.14970-5C>G splice site 0.00002471●●●●●●
670. 38945995 c.1561C>T p.L521F missense 0.00002471●●●●●●
671. 38948227 c.1882C>T p.R628C missense 0.00002471●●●●●●
672. 38973703 c.4657G>A p.V1553I missense 0.00002471●●●●●●
673. 38973724 c.4678G>A p.V1560I missense 0.00002471●●●●●●
674. 38995665 c.8254G>T p.D2752Y missense 0.00002471●●●●●●
675. 39070676 c.14419A>T p.N4807Y missense 0.00002471●●●●●●
676. 38945877 c.1443G>A splice site 0.00002471●●●●●●
677. 39010019 c.10184G>A p.R3395Q missense 0.00002446●●●●●●
678. 38993141 c.7615-6C>T splice site 0.00002360●●●●●●
679. 38943478 c.1264G>A p.G422R missense 0.00002356●●●●●●
680. 39013700 c.10292C>T p.A3431V missense 0.00002293●●●●●●
681. 38964219 c.3968G>C p.R1323P missense 0.00002241●●●●●●
682. 38956757 c.2897C>T p.P966L missense 0.00002164●●●●●●
683. 39057626 c.13513G>T p.D4505Y missense 0.00002154●●●●●●
684. 38956931 c.3071G>A p.R1024H missense 0.00002033●●●●●●
685. 38956930 c.3070C>A p.R1024S missense 0.00002022●●●●●●
686. 39010100 c.10259+6C>T splice site 0.00002022●●●●●●
687. 38931412 c.73G>C p.A25P missense 0.00001991●●●●●●
688. 38995941 c.8311-8A>G splice site 0.00001986●●●●●●
689. 39019618 c.11062_11064delGAA p.Glu3688del inframe 0.00001985●●●●●●
690. 38996015 c.8377C>T p.P2793S missense 0.00001977●●●●●●
691. 38994874 c.7941C>G p.H2647Q missense 0.00001946●●●●●●
692. 38931491 c.152C>T p.T51I missense 0.00001943●●●●●●
693. 38931499 c.160G>A p.A54T missense 0.00001931●●●●●●
694. 38931509 c.165+5G>A splice site 0.00001923●●●●●●
695. 38956987 c.3127C>T p.R1043C missense 0.00001920●●●●●●
696. 38935217 c.538-7C>T splice site 0.00001919●●●●●●
697. 38990419 c.7172C>T p.A2391V missense 0.00001904●●●●●●
698. 38990440 c.7193G>A p.R2398H missense 0.00001901●●●●●●
699. 38990401 c.7154G>A p.R2385H missense 0.00001897●●●●●●
700. 38995953 c.8315A>G p.Q2772R missense 0.00001897●●●●●●
701. 38990404 c.7157T>A p.I2386N missense 0.00001887●●●●●●
702. 38956916 c.3056G>A p.R1019Q missense 0.00001876●●●●●●
703. 38990387 c.7140C>G p.I2380M missense 0.00001876●●●●●●
704. 38956784 c.2924G>A p.R975Q missense 0.00001873●●●●●●
705. 39025355 c.11260-5C>T splice site 0.00001871●●●●●●
706. 38943662 c.1440+8C>T splice site 0.00001846●●●●●●
707. 38943662 c.1440+8C>G splice site 0.00001846●●●●●●
708. 39068844 c.14364C>T p.N4788N splice site 0.00001830●●●●●●
709. 38935231 c.545C>G p.S182W missense 0.00001821●●●●●●
710. 38956796 c.2936C>T p.A979V missense 0.00001814●●●●●●
711. 38995980 c.8342T>C p.I2781T missense 0.00001801●●●●●●
712. 38964206 c.3955G>A p.E1319K missense 0.00001799●●●●●●
713. 38995979 c.8341_8342delAT p.Ile2781ArgfsTer49 frameshift 0.00001799●●●●●●
714. 38935236 c.550G>A p.A184T missense 0.00001784●●●●●●
715. 38964134 c.3883C>A p.Q1295K missense 0.00001772●●●●●●
716. 38935243 c.557G>A p.G186E missense 0.00001759●●●●●●
717. 39019645 c.11089C>A p.P3697T missense 0.00001757●●●●●●
718. 38990267 c.7028-8G>A splice site 0.00001755●●●●●●
719. 38935318 c.631+1G>T essential splice site 0.00001755●●●●●●
720. 38943637 c.1423A>T p.S475C missense 0.00001753●●●●●●
721. 38991620 c.7604C>T p.S2535L missense 0.00001752●●●●●●
722. 38976718 c.5423G>A p.R1808Q missense 0.00001751●●●●●●
723. 39026648 c.11528T>C p.L3843P missense 0.00001749●●●●●●
724. 38965983 c.4186G>A p.A1396T missense 0.00001749●●●●●●
725. 38976754 c.5459G>A p.R1820H missense 0.00001748●●●●●●
726. 38964128 c.3877C>A p.P1293T missense 0.00001747●●●●●●
727. 38990319 c.7072A>C p.I2358L missense 0.00001747●●●●●●
728. 39068797 c.14317G>A p.D4773N missense 0.00001746●●●●●●
729. 39057599 c.13486G>T p.E4496X nonsense 0.00001745●●●●●●
730. 38976774 c.5479delC p.Arg1827AlafsTer24 frameshift 0.00001745●●●●●●
731. 38966034 c.4237G>A p.D1413N missense 0.00001742●●●●●●
732. 38935311 c.625G>A p.E209K missense 0.00001742●●●●●●
733. 39010085 c.10250A>G p.D3417G missense 0.00001742●●●●●●
734. 38964125 c.3874C>T p.L1292F missense 0.00001739●●●●●●
735. 38964201 c.3950C>T p.P1317L missense 0.00001737●●●●●●
736. 38990307 c.7060G>T p.V2354L missense 0.00001736●●●●●●
737. 38935306 c.620G>A p.R207H missense 0.00001734●●●●●●
738. 38935257 c.571G>T p.D191Y missense 0.00001731●●●●●●
739. 39063954 c.14129+7A>T splice site 0.00001731●●●●●●
740. 39057597 c.13484C>G p.P4495R missense 0.00001725●●●●●●
741. 38964116 c.3865C>T p.R1289W missense 0.00001722●●●●●●
742. 38949978 c.2360A>C p.K787T missense 0.00001720●●●●●●
743. 39057596 c.13483C>T p.P4495S missense 0.00001720●●●●●●
744. 38993360 c.7828C>T p.L2610F missense 0.00001717●●●●●●
745. 38943598 c.1384G>A p.E462K missense 0.00001713●●●●●●
746. 39063947 c.14129C>T p.P4710L missense 0.00001713●●●●●●
747. 38934890 c.526G>A p.E176K missense 0.00001713●●●●●●
748. 38993208 c.7676T>A p.L2559Q missense 0.00001711●●●●●●
749. 38985021 c.6304G>C p.V2102L missense 0.00001708●●●●●●
750. 39057593 c.13480_13491delGAGCCGGAACCA p.E4494_P4497del4 inframe 0.00001708●●●●●●
751. 38985021 c.6304G>T p.V2102L missense 0.00001708●●●●●●
752. 39010081 c.10246G>A p.V3416M missense 0.00001707●●●●●●
753. 38956874 c.3014G>A p.S1005N missense 0.00001706●●●●●●
754. 39063944 c.14126C>T p.T4709M missense 0.00001705●●●●●●
755. 39007991 c.9686-8T>C splice site 0.00001704●●●●●●
756. 38987600 c.6891+6G>A splice site 0.00001702●●●●●●
757. 39076826 c.14964T>A p.N4988K missense 0.00001702●●●●●●
758. 38976642 c.5347G>T p.V1783L missense 0.00001700●●●●●●
759. 38948884 c.2119G>A p.G707S missense 0.00001698●●●●●●
760. 38976271 c.4976A>G p.Q1659R missense 0.00001698●●●●●●
761. 38938992 c.801-3C>T splice site 0.00001698●●●●●●
762. 38983224 c.6222G>T p.K2074N missense 0.00001697●●●●●●
763. 38956855 c.2995C>T p.R999C missense 0.00001694●●●●●●
764. 38948878 c.2113G>A p.G705R missense 0.00001694●●●●●●
765. 38956849 c.2989C>T p.R997X nonsense 0.00001693●●●●●●
766. 38993345 c.7813G>A p.D2605N missense 0.00001693●●●●●●
767. 38976634 c.5339C>G p.P1780R missense 0.00001692●●●●●●
768. 38987586 c.6883C>G p.L2295V missense 0.00001691●●●●●●
769. 38954144 c.2659G>A p.E887K missense 0.00001689●●●●●●
770. 38948872 c.2107G>A p.G703S missense 0.00001687●●●●●●
771. 38964051 c.3800C>G p.P1267R missense 0.00001686●●●●●●
772. 38976466 c.5171G>A p.R1724H missense 0.00001686●●●●●●
773. 38987530 c.6827C>T p.A2276V missense 0.00001685●●●●●●
774. 38985069 c.6352C>T p.R2118W missense 0.00001683●●●●●●
775. 38948860 c.2095G>A p.E699K missense 0.00001683●●●●●●
776. 38934882 c.518T>C p.V173A missense 0.00001683●●●●●●
777. 39051745 c.12283-8G>A splice site 0.00001682●●●●●●
778. 38976450 c.5155C>A p.L1719I missense 0.00001682●●●●●●
779. 38987563 c.6860C>A p.A2287D missense 0.00001682●●●●●●
780. 39008010 c.9697C>T p.P3233S missense 0.00001681●●●●●●
781. 39057590 c.13477C>T p.P4493S missense 0.00001681●●●●●●
782. 38993252 c.7720C>T p.H2574Y missense 0.00001680●●●●●●
783. 38976568 c.5273C>T p.P1758L missense 0.00001680●●●●●●
784. 38976475 c.5180G>A p.R1727H missense 0.00001680●●●●●●
785. 38987508 c.6805G>A p.G2269S missense 0.00001680●●●●●●
786. 38976415 c.5120G>A p.R1707H missense 0.00001679●●●●●●
787. 38976427 c.5132A>G p.Y1711C missense 0.00001679●●●●●●
788. 38976570 c.5275C>T p.R1759W missense 0.00001679●●●●●●
789. 38985075 c.6358A>G p.M2120V missense 0.00001679●●●●●●
790. 39005674 c.9481G>A p.V3161I missense 0.00001679●●●●●●
791. 39005746 c.9553A>G p.K3185E missense 0.00001679●●●●●●
792. 38976493 c.5198A>C p.Y1733S missense 0.00001678●●●●●●
793. 38985105 c.6388G>A p.G2130R missense 0.00001677●●●●●●
794. 38976520 c.5225G>A p.R1742H missense 0.00001677●●●●●●
795. 38976529 c.5234C>T p.T1745M missense 0.00001677●●●●●●
796. 38976549 c.5254A>G p.S1752G missense 0.00001677●●●●●●
797. 38991577 c.7561G>A p.V2521M missense 0.00001677●●●●●●
798. 38993261 c.7729A>G p.I2577V missense 0.00001677●●●●●●
799. 38993292 c.7760A>G p.Y2587C missense 0.00001674●●●●●●
800. 38993310 c.7778G>A p.R2593H missense 0.00001674●●●●●●
801. 39052052 c.12582C>G p.F4194L missense 0.00001674●●●●●●
802. 38958442 c.3371A>G p.N1124S missense 0.00001673●●●●●●
803. 38954093 c.2608C>T p.R870W missense 0.00001673●●●●●●
804. 38954106 c.2621C>T p.A874V missense 0.00001673●●●●●●
805. 38993294 c.7762C>T p.R2588C missense 0.00001673●●●●●●
806. 38937386 c.778A>T p.R260W missense 0.00001672●●●●●●
807. 38966090 c.4293G>A splice site 0.00001671●●●●●●
808. 39068670 c.14285C>T p.P4762L missense 0.00001669●●●●●●
809. 38979943 c.5674A>G p.K1892E missense 0.00001669●●●●●●
810. 38996563 c.8518C>T p.R2840W missense 0.00001668●●●●●●
811. 38948830 c.2065G>A p.E689K missense 0.00001668●●●●●●
812. 39008029 c.9716T>A p.M3239K missense 0.00001668●●●●●●
813. 38979925 c.5656G>A p.E1886K missense 0.00001668●●●●●●
814. 38996561 c.8516C>T p.T2839M missense 0.00001668●●●●●●
815. 39005689 c.9496T>C p.Y3166H missense 0.00001668●●●●●●
816. 38979955 c.5686_5688delGAG p.Glu1896del inframe 0.00001668●●●●●●
817. 38983211 c.6209T>A p.V2070E missense 0.00001666●●●●●●
818. 39008034 c.9721C>T p.P3241S missense 0.00001666●●●●●●
819. 38985272 c.6548+7C>T splice site 0.00001666●●●●●●
820. 39008161 c.9848G>A p.R3283Q missense 0.00001665●●●●●●
821. 39008218 c.9905C>G p.P3302R missense 0.00001665●●●●●●
822. 39025778 c.11360-3C>T splice site 0.00001665●●●●●●
823. 39076801 c.14939C>T p.T4980M missense 0.00001664●●●●●●
824. 39008322 c.10009C>T p.R3337W missense 0.00001663●●●●●●
825. 38981256 c.6016-5C>G splice site 0.00001663●●●●●●
826. 39005704 c.9511A>C p.S3171R missense 0.00001663●●●●●●
827. 39008046 c.9733G>A p.V3245M missense 0.00001663●●●●●●
828. 39009854 c.10019T>C p.V3340A missense 0.00001663●●●●●●
829. 38991271 c.7349C>T p.A2450V missense 0.00001662●●●●●●
830. 39008056 c.9743G>A p.R3248Q missense 0.00001662●●●●●●
831. 38985162 c.6445G>A p.V2149M missense 0.00001662●●●●●●
832. 38993537 c.7853T>C p.M2618T missense 0.00001662●●●●●●
833. 39008055 c.9742C>T p.R3248W missense 0.00001662●●●●●●
834. 38986847 c.6549-8G>A splice site 0.00001662●●●●●●
835. 38937366 c.758C>T p.T253I missense 0.00001661●●●●●●
836. 38987116 c.6731G>A p.R2244Q missense 0.00001661●●●●●●
837. 38958433 c.3362A>G p.Y1121C missense 0.00001660●●●●●●
838. 39009878 c.10043G>A p.R3348H missense 0.00001660●●●●●●
839. 39016098 c.10582A>G p.T3528A missense 0.00001660●●●●●●
840. 38960116 c.3728A>T p.Q1243L missense 0.00001660●●●●●●
841. 38987107 c.6722G>T p.R2241L missense 0.00001660●●●●●●
842. 38991279 c.7357A>G p.I2453V missense 0.00001660●●●●●●
843. 38996546 c.8501C>T p.T2834M missense 0.00001660●●●●●●
844. 39016101 c.10585G>A p.D3529N missense 0.00001660●●●●●●
845. 39018952 c.10831C>T p.H3611Y missense 0.00001660●●●●●●
846. 39052024 c.12554C>T p.A4185V missense 0.00001660●●●●●●
847. 39057572 c.13459C>T p.L4487F missense 0.00001660●●●●●●
848. 39008111 c.9798G>A p.M3266I missense 0.00001659●●●●●●
849. 38951181 c.2527C>T p.R843C missense 0.00001659●●●●●●
850. 38996542 c.8497A>G p.K2833E missense 0.00001659●●●●●●
851. 39008229 c.9916G>A p.A3306T missense 0.00001659●●●●●●
852. 39009902 c.10067C>T p.S3356F missense 0.00001659●●●●●●
853. 38997598 c.8816+6C>T splice site 0.00001659●●●●●●
854. 38939418 c.1087C>T p.P363S missense 0.00001658●●●●●●
855. 38951176 c.2522C>T p.P841L missense 0.00001658●●●●●●
856. 39015974 c.10458C>T splice site 0.00001658●●●●●●
857. 38934249 c.322C>T p.L108F missense 0.00001657●●●●●●
858. 39003046 c.9395C>T p.T3132I missense 0.00001657●●●●●●
859. 39008304 c.9991G>A p.E3331K missense 0.00001657●●●●●●
860. 39057578 c.13465C>T p.P4489S missense 0.00001657●●●●●●
861. 38934439 c.424+3G>A splice site 0.00001657●●●●●●
862. 38934440 c.424+4C>A splice site 0.00001657●●●●●●
863. 38997589 c.8813C>T p.T2938I missense 0.00001656●●●●●●
864. 38993587 c.7903G>C p.E2635Q missense 0.00001656●●●●●●
865. 38997492 c.8716G>A p.V2906I missense 0.00001656●●●●●●
866. 39075661 c.14725G>A p.E4909K missense 0.00001656●●●●●●
867. 39075664 c.14728T>A p.Y4910N missense 0.00001656●●●●●●
868. 38934430 c.418G>T p.A140S missense 0.00001655●●●●●●
869. 38986881 c.6575A>G p.Y2192C missense 0.00001655●●●●●●
870. 39075637 c.14701G>A p.E4901K missense 0.00001655●●●●●●
871. 38939140 c.946C>T p.R316C missense 0.00001654●●●●●●
872. 38958417 c.3346G>A p.A1116T missense 0.00001654●●●●●●
873. 38960079 c.3691C>T p.R1231C missense 0.00001654●●●●●●
874. 38993554 c.7870C>T p.R2624C missense 0.00001654●●●●●●
875. 38993571 c.7887C>G p.D2629E missense 0.00001654●●●●●●
876. 39051813 c.12343G>A p.E4115K missense 0.00001654●●●●●●
877. 39051993 c.12523C>G p.P4175A missense 0.00001654●●●●●●
878. 38997158 c.8664_8666delGAA p.Lys2891del inframe 0.00001654●●●●●●
879. 39014549 c.10441-6A>G splice site 0.00001654●●●●●●
880. 38986946 c.6640G>A p.V2214I missense 0.00001653●●●●●●
881. 38968417 c.4361C>T p.P1454L missense 0.00001653●●●●●●
882. 38991499 c.7483G>A p.V2495M missense 0.00001653●●●●●●
883. 39016011 c.10495C>T p.R3499W missense 0.00001653●●●●●●
884. 38948770 c.2005G>A p.E669K missense 0.00001653●●●●●●
885. 38983193 c.6191T>C p.M2064T missense 0.00001653●●●●●●
886. 38993558 c.7874G>A p.R2625H missense 0.00001653●●●●●●
887. 38996455 c.8410A>T p.I2804F missense 0.00001653●●●●●●
888. 38997547 c.8771A>G p.Q2924R missense 0.00001653●●●●●●
889. 39008280 c.9967A>G p.I3323V missense 0.00001653●●●●●●
890. 38946399 c.1791+8C>G splice site 0.00001653●●●●●●
891. 38948732 c.1967C>T p.T656M missense 0.00001652●●●●●●
892. 39002998 c.9347C>T p.S3116L missense 0.00001652●●●●●●
893. 39051919 c.12449C>G p.S4150W missense 0.00001652●●●●●●
894. 39058526 c.13628G>T p.G4543V missense 0.00001652●●●●●●
895. 38951143 c.2489G>A p.R830Q missense 0.00001652●●●●●●
896. 38968383 c.4327G>A p.E1443K missense 0.00001652●●●●●●
897. 38979875 c.5606A>T p.E1869V missense 0.00001652●●●●●●
898. 38996462 c.8417G>A p.R2806H missense 0.00001652●●●●●●
899. 38997145 c.8651A>T p.N2884I missense 0.00001652●●●●●●
900. 38997543 c.8767G>A p.A2923T missense 0.00001652●●●●●●
901. 39023341 c.11224G>A p.G3742S missense 0.00001652●●●●●●
902. 39025847 c.11426C>T p.A3809V missense 0.00001652●●●●●●
903. 39051931 c.12461C>T p.P4154L missense 0.00001652●●●●●●
904. 39076773 c.14911A>G p.T4971A missense 0.00001652●●●●●●
905. 39013957 c.10440+8C>T splice site 0.00001652●●●●●●
906. 39019064 c.10937+6G>A splice site 0.00001651●●●●●●
907. 39058438 c.13540G>T p.V4514F missense 0.00001651●●●●●●
908. 39058501 c.13603G>A p.E4535K missense 0.00001651●●●●●●
909. 38989818 c.6962T>C p.I2321T missense 0.00001651●●●●●●
910. 38990576 c.7243C>T p.R2415W missense 0.00001651●●●●●●
911. 39017655 c.10649G>A p.R3550Q missense 0.00001651●●●●●●
912. 38996936 c.8542-7C>T splice site 0.00001651●●●●●●
913. 38942453 c.1172G>A p.R391H missense 0.00001651●●●●●●
914. 38954457 c.2753A>C p.N918T missense 0.00001651●●●●●●
915. 38994960 c.8027G>A p.R2676Q missense 0.00001651●●●●●●
916. 39023315 c.11198G>A p.C3733Y missense 0.00001651●●●●●●
917. 39058426 c.13528G>C p.E4510Q missense 0.00001651●●●●●●
918. 39058480 c.13582C>T p.P4528S missense 0.00001651●●●●●●
919. 39068574 c.14189G>T p.G4730V missense 0.00001651●●●●●●
920. 39068588 c.14203C>T p.R4735W missense 0.00001651●●●●●●
921. 38937334 c.726A>G splice site 0.00001651●●●●●●
922. 38934388 c.376A>G p.M126V missense 0.00001650●●●●●●
923. 38949813 c.2195C>T p.P732L missense 0.00001650●●●●●●
924. 39019037 c.10916C>T p.T3639M missense 0.00001650●●●●●●
925. 39078031 c.15088C>T p.R5030C missense 0.00001650●●●●●●
926. 38934382 c.370C>T p.R124C missense 0.00001650●●●●●●
927. 38960021 c.3633G>T p.R1211S missense 0.00001650●●●●●●
928. 38979854 c.5585T>C p.I1862T missense 0.00001650●●●●●●
929. 38983141 c.6139G>C p.D2047H missense 0.00001650●●●●●●
930. 38990594 c.7261G>A p.A2421T missense 0.00001650●●●●●●
931. 39019030 c.10909C>T p.R3637C missense 0.00001650●●●●●●
932. 38996945 c.8544C>G splice site 0.00001650●●●●●●
933. 38959642 c.3418C>T p.R1140C missense 0.00001649●●●●●●
934. 39002961 c.9310G>A p.E3104K missense 0.00001649●●●●●●
935. 39071143 c.14645C>T p.T4882M missense 0.00001649●●●●●●
936. 38958372 c.3301G>A p.V1101M missense 0.00001649●●●●●●
937. 38949905 c.2287G>T p.V763L missense 0.00001649●●●●●●
938. 38979814 c.5548-3T>C splice site 0.00001649●●●●●●
939. 38996495 c.8450T>C p.I2817T missense 0.00001649●●●●●●
940. 38942491 c.1210C>T p.H404Y missense 0.00001649●●●●●●
941. 38960006 c.3618C>G p.D1206E missense 0.00001649●●●●●●
942. 38979844 c.5575G>T p.V1859L missense 0.00001649●●●●●●
943. 39002940 c.9289G>A p.E3097K missense 0.00001649●●●●●●
944. 39002946 c.9295G>A p.A3099T missense 0.00001649●●●●●●
945. 39077969 c.15026C>T p.S5009F missense 0.00001649●●●●●●
946. 38942531 c.1244+6delC splice site 0.00001649●●●●●●
947. 38942533 c.1244+8A>T splice site 0.00001649●●●●●●
948. 38997020 c.8616+3G>A splice site 0.00001649●●●●●●
949. 38959759 c.3535C>T p.R1179W missense 0.00001648●●●●●●
950. 38995701 c.8290G>A p.E2764K missense 0.00001648●●●●●●
951. 38949873 c.2255C>T p.P752L missense 0.00001648●●●●●●
952. 38958357 c.3286A>G p.T1096A missense 0.00001648●●●●●●
953. 39063820 c.14002C>T p.P4668S missense 0.00001648●●●●●●
954. 39038896 c.12118G>A p.A4040T missense 0.00001648●●●●●●
955. 39038920 c.12142G>C p.V4048L missense 0.00001648●●●●●●
956. 39062678 c.13766G>A p.G4589E missense 0.00001648●●●●●●
957. 38937201 c.721C>T p.R241C missense 0.00001648●●●●●●
958. 38951110 c.2456G>A p.R819Q missense 0.00001648●●●●●●
959. 38951124 c.2470C>T p.P824S missense 0.00001648●●●●●●
960. 38954401 c.2697C>G p.N899K missense 0.00001648●●●●●●
961. 38958286 c.3215G>A p.R1072H missense 0.00001648●●●●●●
962. 38958369 c.3298C>T p.R1100C missense 0.00001648●●●●●●
963. 38959722 c.3498G>C p.E1166D missense 0.00001648●●●●●●
964. 38959747 c.3523G>A p.E1175K missense 0.00001648●●●●●●
965. 38973697 c.4651G>A p.V1551I missense 0.00001648●●●●●●
966. 38981292 c.6047C>T p.T2016I missense 0.00001648●●●●●●
967. 38981328 c.6083G>A p.R2028Q missense 0.00001648●●●●●●
968. 38995395 c.8075A>T p.D2692V missense 0.00001648●●●●●●
969. 38995409 c.8089C>T p.R2697C missense 0.00001648●●●●●●
970. 38995412 c.8092A>G p.M2698V missense 0.00001648●●●●●●
971. 39034257 c.11864C>G p.S3955W missense 0.00001648●●●●●●
972. 39034257 c.11864C>T p.S3955L missense 0.00001648●●●●●●
973. 39062659 c.13747G>A p.V4583I missense 0.00001648●●●●●●
974. 39070650 c.14393T>C p.V4798A missense 0.00001648●●●●●●
975. 39071104 c.14606A>C p.D4869A missense 0.00001648●●●●●●
976. 39078010 c.15067T>C p.F5023L missense 0.00001648●●●●●●
977. 38951011 c.2361-4C>G splice site 0.00001648●●●●●●
978. 39063819 c.14001G>T splice site 0.00001648●●●●●●
979. 39070618 c.14365-4A>C splice site 0.00001648●●●●●●
980. 39076648 c.14868+6T>A splice site 0.00001648●●●●●●
981. 39034005 c.11708G>A p.R3903Q missense 0.00001647●●●●●●
982. 39061260 c.13673G>A p.R4558Q missense 0.00001647●●●●●●
983. 38945906 c.1472A>C p.D491A missense 0.00001647●●●●●●
984. 38945950 c.1516G>A p.A506T missense 0.00001647●●●●●●
985. 38945953 c.1519G>A p.G507R missense 0.00001647●●●●●●
986. 38945965 c.1531G>T p.A511S missense 0.00001647●●●●●●
987. 38948168 c.1823G>C p.C608S missense 0.00001647●●●●●●
988. 38948261 c.1916A>G p.Y639C missense 0.00001647●●●●●●
989. 38951053 c.2399A>G p.K800R missense 0.00001647●●●●●●
990. 38951070 c.2416G>A p.G806S missense 0.00001647●●●●●●
991. 38951100 c.2446C>T p.P816S missense 0.00001647●●●●●●
992. 38980028 c.5759A>G p.E1920G missense 0.00001647●●●●●●
993. 38980029 c.5760A>C p.E1920D missense 0.00001647●●●●●●
994. 38998439 c.8904C>A p.D2968E missense 0.00001647●●●●●●
995. 39002229 c.9151C>T p.R3051C missense 0.00001647●●●●●●
996. 39038938 c.12160G>A p.V4054M missense 0.00001647●●●●●●
997. 39038962 c.12184G>A p.D4062N missense 0.00001647●●●●●●
998. 39077209 c.15014C>T p.T5005M missense 0.00001647●●●●●●
999. 38946086 c.1577-5C>G splice site 0.00001647●●●●●●
1000. 38948277 c.1925+7C>T splice site 0.00001647●●●●●●
1001. 39002195 c.9123-6C>G splice site 0.00001647●●●●●●
1002. 39034080 c.11778+5G>A splice site 0.00001647●●●●●●
1003. 38965987 c.4190T>A p.M1397K missense 0.00001582●●●●●●
1004. 38965988 c.4191G>T p.M1397I missense 0.00001553●●●●●●
1005. 38943505 c.1291G>T p.A431S missense 0.00001489●●●●●●
1006. 38956727 c.2871-4G>T splice site 0.00001440●●●●●●
1007. 39013690 c.10282A>G p.N3428D missense 0.00001429●●●●●●
1008. 38956964 c.3104G>A p.R1035Q missense 0.00001360●●●●●●
1009. 39013693 c.10285C>T p.P3429S missense 0.00001355●●●●●●
1010. 39010040 c.10205G>T p.C3402F missense 0.00001354●●●●●●
1011. 38956963 c.3103C>T p.R1035W missense 0.00001350●●●●●●
1012. 38993139 c.7615-8C>T splice site 0.00001224●●●●●●
1013. 39010018 c.10183C>G p.R3395G missense 0.00001218●●●●●●
1014. 39010018 c.10183C>T p.R3395W missense 0.00001218●●●●●●
1015. 38943521 c.1307C>G p.P436R missense 0.00001213●●●●●●
1016. 38966002 c.4205C>T p.P1402L missense 0.00001191●●●●●●
1017. 38996044 c.8400+6C>T splice site 0.00001191●●●●●●
1018. 38996043 c.8400+5C>G splice site 0.00001177●●●●●●
1019. 38943525 c.1311C>G p.I437M missense 0.00001169●●●●●●
1020. 39019586 c.11035-5A>T splice site 0.00001162●●●●●●
1021. 38993142 c.7615-5C>T splice site 0.00001161●●●●●●
1022. 38956750 c.2890T>G p.Y964D missense 0.00001155●●●●●●
1023. 38993143 c.7615-4C>T splice site 0.00001149●●●●●●
1024. 38943526 c.1312G>A p.E438K missense 0.00001145●●●●●●
1025. 38966004 c.4207G>T p.A1403S missense 0.00001132●●●●●●
1026. 38956944 c.3084A>C p.E1028D missense 0.00001119●●●●●●
1027. 39025461 c.11359+2T>C essential splice site 0.00001116●●●●●●
1028. 38993148 c.7616C>T p.A2539V missense 0.00001105●●●●●●
1029. 38993149 c.7617C>T splice site 0.00001095●●●●●●
1030. 38943530 c.1316G>A p.G439D missense 0.00001092●●●●●●
1031. 38983269 c.6267C>A p.S2089R missense 0.00001075●●●●●●
1032. 38994866 c.7933A>G p.T2645A missense 0.00001062●●●●●●
1033. 38956760 c.2900C>T p.A967V missense 0.00001050●●●●●●
1034. 38966010 c.4213C>A p.P1405T missense 0.00001047●●●●●●
1035. 38996024 c.8386A>G p.T2796A missense 0.00001033●●●●●●
1036. 38996024 c.8386A>T p.T2796S missense 0.00001033●●●●●●
1037. 38931451 c.112G>T p.A38S missense 0.00001023●●●●●●
1038. 38983263 c.6261G>C p.E2087D missense 0.00001022●●●●●●
1039. 38994869 c.7936A>G p.N2646D missense 0.00001021●●●●●●
1040. 38931454 c.115G>A p.E39K missense 0.00001020●●●●●●
1041. 38983261 c.6259G>A p.E2087K missense 0.00001009●●●●●●
1042. 38996020 c.8382C>G p.Y2794X nonsense 0.00001006●●●●●●
1043. 38931427 c.88G>A p.E30K missense 0.00001002●●●●●●
1044. 38931412 c.73G>A p.A25T missense 0.00000996●●●●●●
1045. 38931470 c.131G>A p.R44H missense 0.00000993●●●●●●
1046. 38996016 c.8378C>T p.P2793L missense 0.00000993●●●●●●
1047. 38993162 c.7630A>G p.T2544A missense 0.00000989●●●●●●
1048. 38956925 c.3065C>T p.P1022L missense 0.00000986●●●●●●
1049. 38931405 c.66G>C p.Q22H missense 0.00000984●●●●●●
1050. 38983256 c.6254C>T p.S2085L missense 0.00000981●●●●●●
1051. 39025440 c.11340G>C p.Q3780H missense 0.00000981●●●●●●
1052. 39009982 c.10147G>A p.A3383T missense 0.00000974●●●●●●
1053. 38931494 c.155G>T p.S52I missense 0.00000969●●●●●●
1054. 38931502 c.163C>T p.Q55X nonsense 0.00000965●●●●●●
1055. 38966017 c.4220T>C p.L1407P missense 0.00000963●●●●●●
1056. 38931511 c.165+7G>T splice site 0.00000962●●●●●●
1057. 38931511 c.165+7G>A splice site 0.00000962●●●●●●
1058. 38990449 c.7202G>T p.R2401L missense 0.00000961●●●●●●
1059. 38931388 c.49G>A p.D17N missense 0.00000961●●●●●●
1060. 38990449 c.7202G>A p.R2401Q missense 0.00000961●●●●●●
1061. 38993165 c.7633G>C p.E2545Q missense 0.00000961●●●●●●
1062. 38993165 c.7633G>A p.E2545K missense 0.00000961●●●●●●
1063. 39019623 c.11067G>C p.E3689D missense 0.00000961●●●●●●
1064. 38943545 c.1331T>C p.L444P missense 0.00000959●●●●●●
1065. 38931387 c.48C>T splice site 0.00000959●●●●●●
1066. 38983250 c.6248A>T p.E2083V missense 0.00000953●●●●●●
1067. 38956779 c.2919C>G p.H973Q missense 0.00000951●●●●●●
1068. 38990409 c.7162G>A p.E2388K missense 0.00000949●●●●●●
1069. 38990439 c.7192C>T p.R2398C missense 0.00000949●●●●●●
1070. 38993167 c.7635G>C p.E2545D missense 0.00000948●●●●●●
1071. 38990415 c.7168C>G p.P2390A missense 0.00000948●●●●●●
1072. 38931380 c.46-5C>T splice site 0.00000948●●●●●●
1073. 38990425 c.7178A>C p.D2393A missense 0.00000947●●●●●●
1074. 38956918 c.3058C>G p.L1020V missense 0.00000947●●●●●●
1075. 38990434 c.7187G>A p.G2396D missense 0.00000947●●●●●●
1076. 39019627 c.11071_11075delGAAGA p.Lys3693AlafsTer24 frameshift 0.00000947●●●●●●
1077. 38931379 c.46-6_46-5insCTG splice site 0.00000946●●●●●●
1078. 38993168 c.7636_7637insTGGCGC p.Met2546_Ala2547insAlaLeu inframe 0.00000944●●●●●●
1079. 39034522 c.12012+7G>A splice site 0.00000942●●●●●●
1080. 38956783 c.2923C>T p.R975W missense 0.00000941●●●●●●
1081. 38993374 c.7835+7C>G splice site 0.00000941●●●●●●
1082. 38980917 c.6015+1G>A essential splice site 0.00000938●●●●●●
1083. 39025429 c.11329A>G p.M3777V missense 0.00000934●●●●●●
1084. 38993172 c.7640C>T p.A2547V missense 0.00000933●●●●●●
1085. 38990379 c.7132G>A p.A2378T missense 0.00000930●●●●●●
1086. 38935325 c.631+8C>T splice site 0.00000929●●●●●●
1087. 39068849 c.14364+5G>A splice site 0.00000924●●●●●●
1088. 38956912 c.3052C>G p.P1018A missense 0.00000921●●●●●●
1089. 38995968 c.8330A>T p.Y2777F missense 0.00000919●●●●●●
1090. 39026634 c.11517-3C>T splice site 0.00000914●●●●●●
1091. 38935231 c.545C>T p.S182L missense 0.00000910●●●●●●
1092. 38993178 c.7646C>T p.A2549V missense 0.00000910●●●●●●
1093. 39016149 c.10626+7G>A splice site 0.00000910●●●●●●
1094. 38939460 c.1122+7G>A splice site 0.00000909●●●●●●
1095. 38943657 c.1440+3G>A splice site 0.00000909●●●●●●
1096. 38994882 c.7949G>A p.R2650H missense 0.00000908●●●●●●
1097. 38983243 c.6241G>A p.E2081K missense 0.00000908●●●●●●
1098. 38990353 c.7106G>A p.R2369Q missense 0.00000906●●●●●●
1099. 39025420 c.11320G>A p.A3774T missense 0.00000905●●●●●●
1100. 38995985 c.8347G>C p.E2783Q missense 0.00000904●●●●●●
1101. 38956906 c.3046C>T p.R1016X nonsense 0.00000903●●●●●●
1102. 38980909 c.6008A>G p.Q2003R missense 0.00000900●●●●●●
1103. 38990347 c.7100C>T p.A2367V missense 0.00000900●●●●●●
1104. 38943654 c.1440_1440+1insGTGAGGAC p.Gly481ValfsTer10 frameshift 0.00000900●●●●●●
1105. 39052103 c.12624+9A>G splice site 0.00000896●●●●●●
1106. 38993372 c.7835+5_7835+6insGGCTTCAGGGTGGG splice site 0.00000896●●●●●●
1107. 39025415 c.11315G>C p.R3772P missense 0.00000895●●●●●●
1108. 38993182 c.7650delG p.Asn2551ThrfsTer195 frameshift 0.00000895●●●●●●
1109. 39013724 c.10316G>A p.G3439D missense 0.00000891●●●●●●
1110. 38956802 c.2942C>A p.T981K missense 0.00000890●●●●●●
1111. 38980906 c.6005C>A p.P2002H missense 0.00000890●●●●●●
1112. 38935320 c.631+3G>A splice site 0.00000889●●●●●●
1113. 38990340 c.7093G>A p.G2365R missense 0.00000888●●●●●●
1114. 39068825 c.14345G>T p.G4782V missense 0.00000887●●●●●●
1115. 38935240 c.554G>A p.S185N missense 0.00000883●●●●●●
1116. 38990331 c.7084G>A p.E2362K missense 0.00000883●●●●●●
1117. 38980903 c.6002C>T p.P2001L missense 0.00000882●●●●●●
1118. 38993186 c.7654C>T p.R2552C missense 0.00000882●●●●●●
1119. 38935242 c.556G>A p.G186R missense 0.00000880●●●●●●
1120. 38993367 c.7835G>A p.R2612K missense 0.00000880●●●●●●
1121. 38943639 c.1425C>A p.S475R missense 0.00000877●●●●●●
1122. 38976703 c.5408C>T p.P1803L missense 0.00000877●●●●●●
1123. 38976712 c.5417C>T p.A1806V missense 0.00000876●●●●●●
1124. 38976717 c.5422C>T p.R1808W missense 0.00000876●●●●●●
1125. 39068811 c.14331G>C p.Q4777H missense 0.00000876●●●●●●
1126. 38990322 c.7075C>T p.R2359W missense 0.00000875●●●●●●
1127. 38976722 c.5427C>G p.D1809E missense 0.00000875●●●●●●
1128. 38980900 c.5999C>T p.S2000F missense 0.00000874●●●●●●
1129. 39016140 c.10624C>A p.L3542M missense 0.00000874●●●●●●
1130. 38976756 c.5461G>T p.D1821Y missense 0.00000873●●●●●●
1131. 38976756 c.5461G>A p.D1821N missense 0.00000873●●●●●●
1132. 38976774 c.5479C>A p.R1827S missense 0.00000873●●●●●●
1133. 39068797 c.14317G>T p.D4773Y missense 0.00000873●●●●●●
1134. 38976763 c.5468G>C p.G1823A missense 0.00000872●●●●●●
1135. 38976763 c.5468G>A p.G1823E missense 0.00000872●●●●●●
1136. 38976771 c.5476G>A p.A1826T missense 0.00000872●●●●●●
1137. 38976775 c.5480G>A p.R1827H missense 0.00000872●●●●●●
1138. 39009958 c.10123G>A p.E3375K missense 0.00000872●●●●●●
1139. 39025396 c.11296C>G p.Q3766E missense 0.00000872●●●●●●
1140. 38958457 c.3381+5G>A splice site 0.00000871●●●●●●
1141. 38934894 c.530G>A p.R177H missense 0.00000871●●●●●●
1142. 38976790 c.5495G>A p.G1832D missense 0.00000871●●●●●●
1143. 38976806 c.5511G>T p.Q1837H missense 0.00000871●●●●●●
1144. 38976808 c.5513T>C p.F1838S missense 0.00000871●●●●●●
1145. 38993364 c.7832G>A p.C2611Y missense 0.00000871●●●●●●
1146. 39025388 c.11288T>C p.L3763S missense 0.00000871●●●●●●
1147. 38990280 c.7033A>T p.S2345C missense 0.00000870●●●●●●
1148. 39063957 c.14129+10C>T splice site 0.00000869●●●●●●
1149. 38990283 c.7036G>A p.V2346M missense 0.00000868●●●●●●
1150. 38934199 c.272C>T p.S91L missense 0.00000868●●●●●●
1151. 38935255 c.569T>C p.V190A missense 0.00000867●●●●●●
1152. 38935306 c.620G>T p.R207L missense 0.00000867●●●●●●
1153. 38990287 c.7040A>C p.E2347A missense 0.00000867●●●●●●
1154. 38990304 c.7057G>A p.V2353M missense 0.00000867●●●●●●
1155. 38991604 c.7588A>C p.M2530L missense 0.00000867●●●●●●
1156. 38954168 c.2682+1G>T essential splice site 0.00000867●●●●●●
1157. 38954170 c.2682+3G>A splice site 0.00000867●●●●●●
1158. 38990298 c.7051A>C p.N2351H missense 0.00000866●●●●●●
1159. 38954166 c.2681C>G p.P894R missense 0.00000866●●●●●●
1160. 38990292 c.7045A>T p.N2349Y missense 0.00000866●●●●●●
1161. 39016138 c.10622C>T p.A3541V missense 0.00000866●●●●●●
1162. 39016138 c.10622C>A p.A3541D missense 0.00000866●●●●●●
1163. 38934893 c.529C>T p.R177C missense 0.00000865●●●●●●
1164. 38935305 c.619C>T p.R207C missense 0.00000865●●●●●●
1165. 38935260 c.574G>T p.A192S missense 0.00000863●●●●●●
1166. 38954165 c.2680C>T p.P894S missense 0.00000863●●●●●●
1167. 38976660 c.5365G>A p.A1789T missense 0.00000863●●●●●●
1168. 39019654 c.11098C>T p.Q3700X nonsense 0.00000863●●●●●●
1169. 38966037 c.4240G>A p.V1414M missense 0.00000862●●●●●●
1170. 38943620 c.1406G>C p.S469T missense 0.00000862●●●●●●
1171. 38935299 c.613T>C p.C205R missense 0.00000861●●●●●●
1172. 38935300 c.614G>A p.C205Y missense 0.00000861●●●●●●
1173. 38935264 c.578C>G p.S193C missense 0.00000860●●●●●●
1174. 38956886 c.3026T>C p.V1009A missense 0.00000859●●●●●●
1175. 38948932 c.2167G>A p.G723R missense 0.00000858●●●●●●
1176. 38964113 c.3862C>G p.L1288V missense 0.00000858●●●●●●
1177. 38985000 c.6283C>A p.Q2095K missense 0.00000858●●●●●●
1178. 38993205 c.7673T>C p.V2558A missense 0.00000858●●●●●●
1179. 39034501 c.11998A>G p.M4000V missense 0.00000858●●●●●●
1180. 38984993 c.6276G>A splice site 0.00000858●●●●●●
1181. 38943587 c.1373T>G p.L458W missense 0.00000857●●●●●●
1182. 38956882 c.3022G>T p.A1008S missense 0.00000857●●●●●●
1183. 38993358 c.7826C>T p.S2609L missense 0.00000857●●●●●●
1184. 39075728 c.14792C>T p.A4931V missense 0.00000855●●●●●●
1185. 38985015 c.6298C>T p.H2100Y missense 0.00000855●●●●●●
1186. 38993210 c.7678C>T p.P2560S missense 0.00000855●●●●●●
1187. 38956877 c.3017A>G p.Y1006C missense 0.00000854●●●●●●
1188. 38983228 c.6226A>G p.K2076E missense 0.00000854●●●●●●
1189. 38993512 c.7836-8T>C splice site 0.00000854●●●●●●
1190. 39005659 c.9473-7C>G splice site 0.00000853●●●●●●
1191. 38976646 c.5351C>A p.A1784D missense 0.00000852●●●●●●
1192. 38964105 c.3854T>G p.M1285R missense 0.00000852●●●●●●
1193. 38964107 c.3856C>G p.L1286V missense 0.00000852●●●●●●
1194. 38985028 c.6311G>A p.R2104H missense 0.00000852●●●●●●
1195. 38993352 c.7820T>C p.L2607P missense 0.00000852●●●●●●
1196. 39019676 c.11120G>A p.R3707H missense 0.00000851●●●●●●
1197. 39052078 c.12608A>G p.Q4203R missense 0.00000851●●●●●●
1198. 38976642 c.5347G>A p.V1783M missense 0.00000850●●●●●●
1199. 38994897 c.7964A>G p.Y2655C missense 0.00000850●●●●●●
1200. 38951235 c.2577+4C>T splice site 0.00000850●●●●●●
1201. 38956861 c.3001G>A p.G1001S missense 0.00000849●●●●●●
1202. 38985040 c.6323A>C p.E2108A missense 0.00000849●●●●●●
1203. 38993217 c.7685T>C p.I2562T missense 0.00000849●●●●●●
1204. 39019675 c.11119C>G p.R3707G missense 0.00000849●●●●●●
1205. 39019691 c.11135A>G p.E3712G missense 0.00000849●●●●●●
1206. 39019693 c.11137A>G p.K3713E missense 0.00000849●●●●●●
1207. 39019697 c.11141G>A p.S3714N missense 0.00000849●●●●●●
1208. 39075724 c.14788delT p.Leu4930TrpfsTer7 frameshift 0.00000849●●●●●●
1209. 38938991 c.801-4A>T splice site 0.00000849●●●●●●
1210. 39019688 c.11132C>T p.T3711M missense 0.00000848●●●●●●
1211. 38993347 c.7815C>G p.D2605E missense 0.00000848●●●●●●
1212. 38993348 c.7816T>A p.C2606S missense 0.00000848●●●●●●
1213. 39019688 c.11132C>G p.T3711R missense 0.00000848●●●●●●
1214. 38976636 c.5341T>C p.C1781R missense 0.00000847●●●●●●
1215. 38956820 c.2960T>A p.L987Q missense 0.00000847●●●●●●
1216. 38985048 c.6331G>T p.V2111L missense 0.00000847●●●●●●
1217. 38985048 c.6331G>C p.V2111L missense 0.00000847●●●●●●
1218. 38993227 c.7695T>G p.C2565W missense 0.00000847●●●●●●
1219. 38937412 c.800+4G>A splice site 0.00000847●●●●●●
1220. 38948876 c.2111A>G p.N704S missense 0.00000846●●●●●●
1221. 38976631 c.5336C>A p.P1779H missense 0.00000846●●●●●●
1222. 38976634 c.5339C>T p.P1780L missense 0.00000846●●●●●●
1223. 38993228 c.7696G>T p.A2566S missense 0.00000846●●●●●●
1224. 39005666 c.9473T>G p.L3158R missense 0.00000846●●●●●●
1225. 38976635 c.5340_5341delCT p.Cys1781PhefsTer76 frameshift 0.00000846●●●●●●
1226. 38993516 c.7836-4G>A splice site 0.00000846●●●●●●
1227. 38976630 c.5335C>T p.P1779S missense 0.00000845●●●●●●
1228. 38939014 c.820C>G p.R274G missense 0.00000845●●●●●●
1229. 38939014 c.820C>T p.R274C missense 0.00000845●●●●●●
1230. 38964031 c.3780C>G p.D1260E missense 0.00000845●●●●●●
1231. 38993232 c.7700C>T p.P2567L missense 0.00000845●●●●●●
1232. 38993342 c.7810G>A p.E2604K missense 0.00000845●●●●●●
1233. 0 c.0_800+2delAGGT essential splice site 0.00000845●●●●●●
1234. 38937406 c.798C>T essential splice site 0.00000845●●●●●●
1235. 38987185 c.6796+4A>G splice site 0.00000845●●●●●●
1236. 38939015 c.821G>T p.R274L missense 0.00000844●●●●●●
1237. 38966053 c.4256A>C p.N1419T missense 0.00000844●●●●●●
1238. 38976265 c.4970A>C p.D1657A missense 0.00000844●●●●●●
1239. 38976465 c.5170C>T p.R1724C missense 0.00000844●●●●●●
1240. 38976628 c.5333C>T p.S1778L missense 0.00000844●●●●●●
1241. 38985060 c.6343G>A p.E2115K missense 0.00000843●●●●●●
1242. 38954078 c.2593C>T p.H865Y missense 0.00000843●●●●●●
1243. 38954139 c.2654G>T p.R885L missense 0.00000843●●●●●●
1244. 38964051 c.3800C>A p.P1267H missense 0.00000843●●●●●●
1245. 38964053 c.3802T>A p.C1268S missense 0.00000843●●●●●●
1246. 38964069 c.3818A>G p.H1273R missense 0.00000843●●●●●●
1247. 38964077 c.3826T>A p.W1276R missense 0.00000843●●●●●●
1248. 38966055 c.4258C>T p.R1420C missense 0.00000843●●●●●●
1249. 38993336 c.7804G>A p.V2602I missense 0.00000843●●●●●●
1250. 39002720 c.9181G>A p.A3061T missense 0.00000843●●●●●●
1251. 39075715 c.14779G>A p.V4927I missense 0.00000843●●●●●●
1252. 39005753 c.9554+6G>A splice site 0.00000843●●●●●●
1253. 38985066 c.6349G>C p.V2117L missense 0.00000842●●●●●●
1254. 38939019 c.825G>T p.W275C missense 0.00000842●●●●●●
1255. 38993331 c.7799G>A p.R2600H missense 0.00000842●●●●●●
1256. 39005671 c.9478G>A p.D3160N missense 0.00000842●●●●●●
1257. 38939019 c.825G>C p.W275C missense 0.00000842●●●●●●
1258. 38964059 c.3808C>A p.R1270S missense 0.00000842●●●●●●
1259. 38964060 c.3809G>C p.R1270P missense 0.00000842●●●●●●
1260. 38964066 c.3815C>T p.T1272I missense 0.00000842●●●●●●
1261. 38976619 c.5324A>G p.H1775R missense 0.00000842●●●●●●
1262. 38987569 c.6866C>A p.A2289E missense 0.00000842●●●●●●
1263. 38993238 c.7706T>C p.F2569S missense 0.00000842●●●●●●
1264. 38993241 c.7709C>T p.A2570V missense 0.00000842●●●●●●
1265. 38949970 c.2352delT p.Gly785ValfsTer99 frameshift 0.00000842●●●●●●
1266. 38996589 c.8541+3G>A splice site 0.00000842●●●●●●
1267. 38954081 c.2596C>A p.L866M missense 0.00000841●●●●●●
1268. 38976259 c.4964G>A p.R1655H missense 0.00000841●●●●●●
1269. 38976322 c.5027G>A p.G1676D missense 0.00000841●●●●●●
1270. 38976339 c.5044C>T p.H1682Y missense 0.00000841●●●●●●
1271. 38976348 c.5053T>G p.C1685G missense 0.00000841●●●●●●
1272. 38987181 c.6796G>T p.G2266C missense 0.00000841●●●●●●
1273. 38987562 c.6859G>A p.A2287T missense 0.00000841●●●●●●
1274. 38993244 c.7712G>C p.G2571A missense 0.00000841●●●●●●
1275. 38993244 c.7712G>A p.G2571D missense 0.00000841●●●●●●
1276. 38993247 c.7715C>T p.T2572I missense 0.00000841●●●●●●
1277. 38993249 c.7717G>A p.E2573K missense 0.00000841●●●●●●
1278. 38993520 c.7836G>T p.R2612S missense 0.00000841●●●●●●
1279. 39075712 c.14776A>G p.I4926V missense 0.00000841●●●●●●
1280. 38976295 c.5000_5026delGCCTCTACCGCGCTGTGTGCGCCCTGG p.Leu1668_Gly1676del inframe 0.00000841●●●●●●
1281. 39003131 c.9472+8C>T splice site 0.00000841●●●●●●
1282. 39071002 c.14512-8G>A splice site 0.00000841●●●●●●
1283. 38954133 c.2648T>A p.L883Q missense 0.00000840●●●●●●
1284. 38976603 c.5308T>G p.S1770A missense 0.00000840●●●●●●
1285. 38948849 c.2084C>G p.P695R missense 0.00000840●●●●●●
1286. 38948851 c.2086G>T p.G696W missense 0.00000840●●●●●●
1287. 38954130 c.2645C>A p.A882E missense 0.00000840●●●●●●
1288. 38976286 c.4991A>T p.H1664L missense 0.00000840●●●●●●
1289. 38976362 c.5067C>G p.D1689E missense 0.00000840●●●●●●
1290. 38976367 c.5072C>T p.A1691V missense 0.00000840●●●●●●
1291. 38976393 c.5098G>A p.A1700T missense 0.00000840●●●●●●
1292. 38976394 c.5099C>G p.A1700G missense 0.00000840●●●●●●
1293. 38976427 c.5132A>T p.Y1711F missense 0.00000840●●●●●●
1294. 38976474 c.5179C>T p.R1727C missense 0.00000840●●●●●●
1295. 38976566 c.5271C>A p.H1757Q missense 0.00000840●●●●●●
1296. 38976571 c.5276G>A p.R1759Q missense 0.00000840●●●●●●
1297. 38976573 c.5278C>T p.H1760Y missense 0.00000840●●●●●●
1298. 38976574 c.5279A>G p.H1760R missense 0.00000840●●●●●●
1299. 38976574 c.5279A>T p.H1760L missense 0.00000840●●●●●●
1300. 38987500 c.6797G>C p.G2266A missense 0.00000840●●●●●●
1301. 38987517 c.6814C>T p.P2272S missense 0.00000840●●●●●●
1302. 38993250 c.7718A>G p.E2573G missense 0.00000840●●●●●●
1303. 38993325 c.7793C>T p.A2598V missense 0.00000840●●●●●●
1304. 38993522 c.7838A>C p.Y2613S missense 0.00000840●●●●●●
1305. 39076816 c.14954A>C p.N4985T missense 0.00000840●●●●●●
1306. 38976372 c.5077delC p.Leu1693CysfsTer79 frameshift 0.00000840●●●●●●
1307. 39003124 c.9472+1G>A essential splice site 0.00000840●●●●●●
1308. 38987497 c.6797-3C>A splice site 0.00000840●●●●●●
1309. 38987501 c.6798C>T splice site 0.00000840●●●●●●
1310. 39003128 c.9472+5G>C splice site 0.00000840●●●●●●
1311. 38993259 c.7727C>T p.A2576V missense 0.00000839●●●●●●
1312. 38993256 c.7724G>A p.R2575H missense 0.00000839●●●●●●
1313. 38976373 c.5078T>G p.L1693R missense 0.00000839●●●●●●
1314. 38976489 c.5194G>C p.E1732Q missense 0.00000839●●●●●●
1315. 38976492 c.5197T>A p.Y1733N missense 0.00000839●●●●●●
1316. 38976501 c.5206C>T p.P1736S missense 0.00000839●●●●●●
1317. 38976531 c.5236C>T p.L1746F missense 0.00000839●●●●●●
1318. 38976546 c.5251A>G p.R1751G missense 0.00000839●●●●●●
1319. 38976550 c.5255G>A p.S1752N missense 0.00000839●●●●●●
1320. 38993258 c.7726G>A p.A2576T missense 0.00000839●●●●●●
1321. 38993324 c.7792G>A p.A2598T missense 0.00000839●●●●●●
1322. 39008014 c.9701A>C p.N3234T missense 0.00000839●●●●●●
1323. 39008212 c.9899C>T p.A3300V missense 0.00000839●●●●●●
1324. 39034488 c.11985C>G p.F3995L missense 0.00000839●●●●●●
1325. 38954120 c.2635G>A p.E879K missense 0.00000838●●●●●●
1326. 38954087 c.2602C>T p.R868C missense 0.00000838●●●●●●
1327. 38993261 c.7729A>C p.I2577L missense 0.00000838●●●●●●
1328. 38939026 c.832C>T p.P278S missense 0.00000838●●●●●●
1329. 38954119 c.2634C>G p.H878Q missense 0.00000838●●●●●●
1330. 38985091 c.6374A>G p.H2125R missense 0.00000838●●●●●●
1331. 38985105 c.6388G>T p.G2130W missense 0.00000838●●●●●●
1332. 38985114 c.6397G>A p.E2133K missense 0.00000838●●●●●●
1333. 38993265 c.7733T>C p.M2578T missense 0.00000838●●●●●●
1334. 38993313 c.7781C>T p.S2594L missense 0.00000838●●●●●●
1335. 39008196 c.9883G>A p.A3295T missense 0.00000838●●●●●●
1336. 39052053 c.12583G>A p.E4195K missense 0.00000838●●●●●●
1337. 38996572 c.8527T>C p.S2843P missense 0.00000837●●●●●●
1338. 38966067 c.4270G>A p.E1424K missense 0.00000837●●●●●●
1339. 38951211 c.2557T>A p.C853S missense 0.00000837●●●●●●
1340. 38968494 c.4438G>A p.G1480S missense 0.00000837●●●●●●
1341. 38993268 c.7736T>C p.V2579A missense 0.00000837●●●●●●
1342. 38993270 c.7738G>A p.D2580N missense 0.00000837●●●●●●
1343. 38993274 c.7742C>G p.S2581C missense 0.00000837●●●●●●
1344. 38993276 c.7744A>G p.M2582V missense 0.00000837●●●●●●
1345. 38993304 c.7772G>T p.R2591L missense 0.00000837●●●●●●
1346. 38993304 c.7772G>C p.R2591P missense 0.00000837●●●●●●
1347. 38993309 c.7777C>T p.R2593C missense 0.00000837●●●●●●
1348. 39008019 c.9706G>A p.V3236M missense 0.00000837●●●●●●
1349. 39018302 c.10702T>G p.S3568A missense 0.00000837●●●●●●
1350. 39068678 c.14293C>G p.L4765V missense 0.00000837●●●●●●
1351. 39008021 c.9708_9710delGGA p.Glu3238del inframe 0.00000837●●●●●●
1352. 38939428 c.1097T>G p.L366R missense 0.00000836●●●●●●
1353. 38966070 c.4273A>G p.I1425V missense 0.00000836●●●●●●
1354. 38985127 c.6410C>T p.A2137V missense 0.00000836●●●●●●
1355. 38993294 c.7762C>G p.R2588G missense 0.00000836●●●●●●
1356. 38996571 c.8526A>G p.I2842M missense 0.00000836●●●●●●
1357. 39008175 c.9862G>A p.G3288R missense 0.00000836●●●●●●
1358. 39008184 c.9871G>A p.A3291T missense 0.00000836●●●●●●
1359. 38987158 c.6773T>C p.L2258P missense 0.00000835●●●●●●
1360. 38951205 c.2551G>T p.V851L missense 0.00000835●●●●●●
1361. 38987160 c.6775G>A p.E2259K missense 0.00000835●●●●●●
1362. 39005687 c.9494G>A p.C3165Y missense 0.00000835●●●●●●
1363. 39005735 c.9542C>T p.T3181I missense 0.00000835●●●●●●
1364. 39008172 c.9859C>A p.R3287S missense 0.00000835●●●●●●
1365. 39008173 c.9860G>A p.R3287H missense 0.00000835●●●●●●
1366. 39008173 c.9860G>T p.R3287L missense 0.00000835●●●●●●
1367. 39016114 c.10598T>A p.I3533N missense 0.00000835●●●●●●
1368. 39018309 c.10709G>A p.R3570H missense 0.00000835●●●●●●
1369. 38966096 c.4293+6G>A splice site 0.00000835●●●●●●
1370. 38997194 c.8692+8C>A splice site 0.00000835●●●●●●
1371. 38997194 c.8692+8C>T splice site 0.00000835●●●●●●
1372. 39068667 c.14282C>T p.P4761L missense 0.00000834●●●●●●
1373. 38937380 c.772C>T p.L258F missense 0.00000834●●●●●●
1374. 38979928 c.5659G>A p.E1887K missense 0.00000834●●●●●●
1375. 38979939 c.5670G>T p.E1890D missense 0.00000834●●●●●●
1376. 38979942 c.5673G>C p.E1891D missense 0.00000834●●●●●●
1377. 38980723 c.5822A>C p.H1941P missense 0.00000834●●●●●●
1378. 38985136 c.6419G>A p.R2140Q missense 0.00000834●●●●●●
1379. 38996561 c.8516C>A p.T2839K missense 0.00000834●●●●●●
1380. 39003097 c.9446A>G p.Q3149R missense 0.00000834●●●●●●
1381. 39008329 c.10016C>T p.A3339V missense 0.00000834●●●●●●
1382. 39016113 c.10597A>G p.I3533V missense 0.00000834●●●●●●
1383. 39052042 c.12572G>A p.R4191H missense 0.00000834●●●●●●
1384. 39068669 c.14284C>G p.P4762A missense 0.00000834●●●●●●
1385. 38991241 c.7324-5C>T splice site 0.00000834●●●●●●
1386. 38985139 c.6422C>T p.A2141V missense 0.00000833●●●●●●
1387. 38985271 c.6548+6A>G splice site 0.00000833●●●●●●
1388. 38960149 c.3761A>G p.Y1254C missense 0.00000833●●●●●●
1389. 38937374 c.766C>A p.R256S missense 0.00000833●●●●●●
1390. 38937375 c.767G>A p.R256H missense 0.00000833●●●●●●
1391. 38979919 c.5650G>C p.G1884R missense 0.00000833●●●●●●
1392. 38980731 c.5830G>C p.E1944Q missense 0.00000833●●●●●●
1393. 38993534 c.7850C>T p.S2617L missense 0.00000833●●●●●●
1394. 39008217 c.9904C>T p.P3302S missense 0.00000833●●●●●●
1395. 39016111 c.10595T>A p.L3532H missense 0.00000833●●●●●●
1396. 39051756 c.12286A>G p.M4096V missense 0.00000833●●●●●●
1397. 39076804 c.14942T>C p.L4981P missense 0.00000833●●●●●●
1398. 39008220 c.9907delC p.Cys3304AlafsTer17 frameshift 0.00000833●●●●●●
1399. 39018426 c.10824+2T>G essential splice site 0.00000833●●●●●●
1400. 38993616 c.7926+6G>A splice site 0.00000833●●●●●●
1401. 39008160 c.9847C>T p.R3283X nonsense 0.00000832●●●●●●
1402. 38934232 c.305A>G p.Y102C missense 0.00000832●●●●●●
1403. 38960148 c.3760T>C p.Y1254H missense 0.00000832●●●●●●
1404. 38968480 c.4424T>C p.M1475T missense 0.00000832●●●●●●
1405. 38980863 c.5962G>A p.A1988T missense 0.00000832●●●●●●
1406. 38985153 c.6436C>G p.P2146A missense 0.00000832●●●●●●
1407. 38985264 c.6547G>C p.G2183R missense 0.00000832●●●●●●
1408. 39003075 c.9424A>T p.T3142S missense 0.00000832●●●●●●
1409. 39005702 c.9509G>A p.C3170Y missense 0.00000832●●●●●●
1410. 39005708 c.9515T>C p.I3172T missense 0.00000832●●●●●●
1411. 39016106 c.10590A>C p.Q3530H missense 0.00000832●●●●●●
1412. 39016108 c.10592A>G p.D3531G missense 0.00000832●●●●●●
1413. 39034468 c.11965G>A p.V3989M missense 0.00000832●●●●●●
1414. 39051761 c.12291C>A p.D4097E missense 0.00000832●●●●●●
1415. 39052033 c.12563G>A p.R4188H missense 0.00000832●●●●●●
1416. 39052035 c.12565A>G p.I4189V missense 0.00000832●●●●●●
1417. 39025779 c.11360-2A>G essential splice site 0.00000832●●●●●●
1418. 38933098 c.270+5G>A splice site 0.00000832●●●●●●
1419. 38989742 c.6892-6C>G splice site 0.00000832●●●●●●
1420. 38990664 c.7323+8C>A splice site 0.00000832●●●●●●
1421. 38987128 c.6743G>A p.R2248H missense 0.00000831●●●●●●
1422. 39058557 c.13659delG p.C4554Afs*142 frameshift 0.00000831●●●●●●
1423. 38987125 c.6740A>G p.Q2247R missense 0.00000831●●●●●●
1424. 38993609 c.7925A>G p.K2642R missense 0.00000831●●●●●●
1425. 39008058 c.9745C>G p.L3249V missense 0.00000831●●●●●●
1426. 39008223 c.9910T>C p.C3304R missense 0.00000831●●●●●●
1427. 39009869 c.10034T>C p.I3345T missense 0.00000831●●●●●●
1428. 39009874 c.10039A>T p.S3347C missense 0.00000831●●●●●●
1429. 39018335 c.10735G>A p.V3579I missense 0.00000831●●●●●●
1430. 39018339 c.10739C>T p.P3580L missense 0.00000831●●●●●●
1431. 39052029 c.12559C>A p.R4187S missense 0.00000831●●●●●●
1432. 39034409 c.11908-2A>G essential splice site 0.00000831●●●●●●
1433. 39034410 c.11908-1G>A essential splice site 0.00000831●●●●●●
1434. 38990663 c.7323+7C>A splice site 0.00000831●●●●●●
1435. 38997461 c.8693-8C>G splice site 0.00000831●●●●●●
1436. 39034408 c.11908-3C>G splice site 0.00000831●●●●●●
1437. 39075578 c.14647-5C>T splice site 0.00000831●●●●●●
1438. 39075579 c.14647-4T>G splice site 0.00000831●●●●●●
1439. 38991282 c.7360C>T p.R2454C missense 0.00000830●●●●●●
1440. 38991283 c.7361G>A p.R2454H missense 0.00000830●●●●●●
1441. 38951182 c.2528G>T p.R843L missense 0.00000830●●●●●●
1442. 39008098 c.9785G>A p.R3262H missense 0.00000830●●●●●●
1443. 39018345 c.10745G>A p.R3582H missense 0.00000830●●●●●●
1444. 38960124 c.3736C>T p.P1246S missense 0.00000830●●●●●●
1445. 38985232 c.6515C>T p.P2172L missense 0.00000830●●●●●●
1446. 39019342 c.11034+7T>C splice site 0.00000830●●●●●●
1447. 39068654 c.14269C>T p.R4757C missense 0.00000830●●●●●●
1448. 38979968 c.5699C>T p.A1900V missense 0.00000830●●●●●●
1449. 39008097 c.9784C>T p.R3262C missense 0.00000830●●●●●●
1450. 39009884 c.10049G>T p.R3350L missense 0.00000830●●●●●●
1451. 38934238 c.311A>G p.H104R missense 0.00000830●●●●●●
1452. 38979960 c.5691G>T p.E1897D missense 0.00000830●●●●●●
1453. 38985175 c.6458T>C p.M2153T missense 0.00000830●●●●●●
1454. 38985176 c.6459G>A p.M2153I missense 0.00000830●●●●●●
1455. 38985187 c.6470A>T p.E2157V missense 0.00000830●●●●●●
1456. 38985195 c.6478G>C p.G2160R missense 0.00000830●●●●●●
1457. 38985228 c.6511G>A p.G2171S missense 0.00000830●●●●●●
1458. 38985238 c.6521A>C p.E2174A missense 0.00000830●●●●●●
1459. 38987098 c.6713A>G p.Y2238C missense 0.00000830●●●●●●
1460. 38987102 c.6717C>G p.F2239L missense 0.00000830●●●●●●
1461. 38987106 c.6721C>G p.R2241G missense 0.00000830●●●●●●
1462. 38987107 c.6722G>A p.R2241Q missense 0.00000830●●●●●●
1463. 38987111 c.6726C>G p.I2242M missense 0.00000830●●●●●●
1464. 38989748 c.6892G>A p.V2298I missense 0.00000830●●●●●●
1465. 38997183 c.8689A>G p.K2897E missense 0.00000830●●●●●●
1466. 38997475 c.8699G>C p.G2900A missense 0.00000830●●●●●●
1467. 39008080 c.9767T>A p.L3256Q missense 0.00000830●●●●●●
1468. 39008088 c.9775T>G p.S3259A missense 0.00000830●●●●●●
1469. 39008098 c.9785G>C p.R3262P missense 0.00000830●●●●●●
1470. 39008124 c.9811G>A p.E3271K missense 0.00000830●●●●●●
1471. 39008141 c.9828G>C p.M3276I missense 0.00000830●●●●●●
1472. 39009884 c.10049G>A p.R3350Q missense 0.00000830●●●●●●
1473. 39009893 c.10058T>G p.L3353R missense 0.00000830●●●●●●
1474. 39018344 c.10744C>T p.R3582C missense 0.00000830●●●●●●
1475. 39018345 c.10745G>T p.R3582L missense 0.00000830●●●●●●
1476. 39018401 c.10801G>A p.A3601T missense 0.00000830●●●●●●
1477. 39018402 c.10802C>T p.A3601V missense 0.00000830●●●●●●
1478. 39034435 c.11932A>G p.S3978G missense 0.00000830●●●●●●
1479. 39052024 c.12554C>A p.A4185E missense 0.00000830●●●●●●
1480. 38990657 c.7323+1G>A essential splice site 0.00000830●●●●●●
1481. 39009888 c.10053delG p.Glu3352SerfsTer73 frameshift 0.00000830●●●●●●
1482. 38942397 c.1123-7C>T splice site 0.00000830●●●●●●
1483. 38942401 c.1123-3T>C splice site 0.00000830●●●●●●
1484. 38959602 c.3382-4A>C splice site 0.00000830●●●●●●
1485. 38996438 c.8401-8C>T splice site 0.00000830●●●●●●
1486. 39015965 c.10456-7C>A splice site 0.00000830●●●●●●
1487. 39062916 c.13998+6C>T splice site 0.00000830●●●●●●
1488. 39075585 c.14649T>C splice site 0.00000830●●●●●●
1489. 38991295 c.7373G>A p.R2458H missense 0.00000829●●●●●●
1490. 38990654 c.7321C>G p.H2441D missense 0.00000829●●●●●●
1491. 38942407 c.1126A>G p.M376V missense 0.00000829●●●●●●
1492. 39068651 c.14266G>A p.E4756K missense 0.00000829●●●●●●
1493. 39016093 c.10577C>T p.A3526V missense 0.00000829●●●●●●
1494. 39076794 c.14932A>G p.T4978A missense 0.00000829●●●●●●
1495. 38933088 c.265G>A p.V89M missense 0.00000829●●●●●●
1496. 38933092 c.269A>C p.E90A missense 0.00000829●●●●●●
1497. 38948803 c.2038C>T p.H680Y missense 0.00000829●●●●●●
1498. 38951170 c.2516T>C p.V839A missense 0.00000829●●●●●●
1499. 38951179 c.2525G>T p.S842I missense 0.00000829●●●●●●
1500. 38959606 c.3382G>A p.G1128S missense 0.00000829●●●●●●
1501. 38960113 c.3725C>A p.P1242H missense 0.00000829●●●●●●
1502. 38980750 c.5849A>T p.E1950V missense 0.00000829●●●●●●
1503. 38980849 c.5948C>T p.A1983V missense 0.00000829●●●●●●
1504. 38987049 c.6664G>A p.E2222K missense 0.00000829●●●●●●
1505. 38987064 c.6679A>G p.K2227E missense 0.00000829●●●●●●
1506. 38991285 c.7363G>A p.A2455T missense 0.00000829●●●●●●
1507. 38991545 c.7529A>G p.Y2510C missense 0.00000829●●●●●●
1508. 38993545 c.7861C>T p.H2621Y missense 0.00000829●●●●●●
1509. 38997482 c.8706C>A p.H2902Q missense 0.00000829●●●●●●
1510. 38997483 c.8707C>A p.P2903T missense 0.00000829●●●●●●
1511. 38997486 c.8710C>G p.L2904V missense 0.00000829●●●●●●
1512. 39008116 c.9803A>G p.H3268R missense 0.00000829●●●●●●
1513. 39008121 c.9808A>T p.I3270F missense 0.00000829●●●●●●
1514. 39018366 c.10766C>G p.P3589R missense 0.00000829●●●●●●
1515. 39018371 c.10771A>G p.K3591E missense 0.00000829●●●●●●
1516. 39018378 c.10778T>A p.V3593E missense 0.00000829●●●●●●
1517. 38934438 c.424+2T>C essential splice site 0.00000829●●●●●●
1518. 38987045 c.6664-4C>T splice site 0.00000829●●●●●●
1519. 38996442 c.8401-4C>T splice site 0.00000829●●●●●●
1520. 38997599 c.8816+7G>A splice site 0.00000829●●●●●●
1521. 39015969 c.10456-3C>T splice site 0.00000829●●●●●●
1522. 39062902 c.13990T>C p.C4664R missense 0.00000828●●●●●●
1523. 39075653 c.14717C>T p.A4906V missense 0.00000828●●●●●●
1524. 38934866 c.502A>G p.I168V missense 0.00000828●●●●●●
1525. 38991325 c.7403G>A p.G2468D missense 0.00000828●●●●●●
1526. 38986870 c.6564C>G p.N2188K missense 0.00000828●●●●●●
1527. 38991342 c.7420C>G p.L2474V missense 0.00000828●●●●●●
1528. 39014557 c.10443G>A p.A3481A splice site 0.00000828●●●●●●
1529. 39014563 c.10449_10450insA p.I3484Nfs*217 frameshift 0.00000828●●●●●●
1530. 39076790 c.14928C>G p.F4976L missense 0.00000828●●●●●●
1531. 38939096 c.902T>C p.V301A missense 0.00000828●●●●●●
1532. 38991307 c.7385C>T p.P2462L missense 0.00000828●●●●●●
1533. 38997169 c.8675A>G p.Q2892R missense 0.00000828●●●●●●
1534. 39052006 c.12536G>C p.R4179P missense 0.00000828●●●●●●
1535. 39075645 c.14709G>C p.E4903D missense 0.00000828●●●●●●
1536. 38959612 c.3388C>T p.R1130C missense 0.00000828●●●●●●
1537. 38960100 c.3712A>C p.S1238R missense 0.00000828●●●●●●
1538. 38968436 c.4380C>G p.D1460E missense 0.00000828●●●●●●
1539. 38968441 c.4385G>A p.S1462N missense 0.00000828●●●●●●
1540. 38968450 c.4394T>G p.L1465R missense 0.00000828●●●●●●
1541. 38979974 c.5705A>C p.E1902A missense 0.00000828●●●●●●
1542. 38980762 c.5861G>A p.R1954H missense 0.00000828●●●●●●
1543. 38986868 c.6562A>G p.N2188D missense 0.00000828●●●●●●
1544. 38991315 c.7393G>A p.D2465N missense 0.00000828●●●●●●
1545. 38991318 c.7396C>T p.L2466F missense 0.00000828●●●●●●
1546. 38991328 c.7406T>C p.I2469T missense 0.00000828●●●●●●
1547. 38991360 c.7438G>A p.G2480S missense 0.00000828●●●●●●
1548. 38991366 c.7444G>A p.D2482N missense 0.00000828●●●●●●
1549. 38991461 c.7445A>G p.D2482G missense 0.00000828●●●●●●
1550. 38993581 c.7897C>G p.L2633V missense 0.00000828●●●●●●
1551. 38994996 c.8063A>G p.H2688R missense 0.00000828●●●●●●
1552. 38997585 c.8809G>A p.V2937I missense 0.00000828●●●●●●
1553. 39003036 c.9385C>G p.L3129V missense 0.00000828●●●●●●
1554. 39003043 c.9392A>G p.Y3131C missense 0.00000828●●●●●●
1555. 39014564 c.10450A>G p.I3484V missense 0.00000828●●●●●●
1556. 39014566 c.10452A>G p.I3484M missense 0.00000828●●●●●●
1557. 39014568 c.10454A>G p.Q3485R missense 0.00000828●●●●●●
1558. 39015981 c.10465T>G p.S3489A missense 0.00000828●●●●●●
1559. 39015982 c.10466C>T p.S3489L missense 0.00000828●●●●●●
1560. 39025808 c.11387C>T p.T3796I missense 0.00000828●●●●●●
1561. 39051794 c.12324G>C p.Q4108H missense 0.00000828●●●●●●
1562. 39058544 c.13646G>T p.R4549M missense 0.00000828●●●●●●
1563. 38934434 c.422delC p.Thr141LysfsTer61 frameshift 0.00000828●●●●●●
1564. 38979889 c.5620_5622delGAA p.Glu1874del inframe 0.00000828●●●●●●
1565. 38986970 c.6663+1G>A essential splice site 0.00000828●●●●●●
1566. 39051801 c.12331_12332insT p.Ser4112PhefsTer7 frameshift 0.00000828●●●●●●
1567. 38969068 c.4455-7C>T splice site 0.00000828●●●●●●
1568. 38991371 c.7444+5A>G splice site 0.00000828●●●●●●
1569. 38991455 c.7445-6C>T splice site 0.00000828●●●●●●
1570. 39017695 c.10686+3A>G splice site 0.00000828●●●●●●
1571. 39017697 c.10686+5G>A splice site 0.00000828●●●●●●
1572. 38939141 c.947G>A p.R316H missense 0.00000827●●●●●●
1573. 38954473 c.2769G>A p.M923I missense 0.00000827●●●●●●
1574. 38980826 c.5925C>A p.S1975R missense 0.00000827●●●●●●
1575. 38986961 c.6655G>A p.E2219K missense 0.00000827●●●●●●
1576. 38990561 c.7228C>A p.P2410T missense 0.00000827●●●●●●
1577. 39051815 c.12345A>C p.E4115D missense 0.00000827●●●●●●
1578. 38979884 c.5615C>T p.T1872I missense 0.00000827●●●●●●
1579. 38983194 c.6192G>C p.M2064I missense 0.00000827●●●●●●
1580. 38990553 c.7220G>A p.G2407D missense 0.00000827●●●●●●
1581. 38997501 c.8725G>A p.D2909N missense 0.00000827●●●●●●
1582. 39051826 c.12356A>T p.N4119I missense 0.00000827●●●●●●
1583. 39075643 c.14707G>A p.E4903K missense 0.00000827●●●●●●
1584. 39014554 c.10441-1G>A essential splice site 0.00000827●●●●●●
1585. 38933074 c.251C>G p.T84R missense 0.00000827●●●●●●
1586. 38934253 c.326G>A p.R109Q missense 0.00000827●●●●●●
1587. 38934255 c.328C>T p.H110Y missense 0.00000827●●●●●●
1588. 38934261 c.334C>T p.H112Y missense 0.00000827●●●●●●
1589. 38939128 c.934T>C p.S312P missense 0.00000827●●●●●●
1590. 38939143 c.949A>G p.I317V missense 0.00000827●●●●●●
1591. 38939412 c.1081C>T p.P361S missense 0.00000827●●●●●●
1592. 38948692 c.1927A>T p.I643F missense 0.00000827●●●●●●
1593. 38948695 c.1930C>T p.R644C missense 0.00000827●●●●●●
1594. 38948779 c.2014C>T p.P672S missense 0.00000827●●●●●●
1595. 38949942 c.2324T>C p.L775P missense 0.00000827●●●●●●
1596. 38951157 c.2503G>T p.G835W missense 0.00000827●●●●●●
1597. 38958420 c.3349G>T p.D1117Y missense 0.00000827●●●●●●
1598. 38968426 c.4370A>G p.H1457R missense 0.00000827●●●●●●
1599. 38968432 c.4376A>G p.H1459R missense 0.00000827●●●●●●
1600. 38968433 c.4377C>G p.H1459Q missense 0.00000827●●●●●●
1601. 38968434 c.4378G>A p.D1460N missense 0.00000827●●●●●●
1602. 38969082 c.4462T>C p.C1488R missense 0.00000827●●●●●●
1603. 38980768 c.5867A>T p.E1956V missense 0.00000827●●●●●●
1604. 38980786 c.5885C>T p.A1962V missense 0.00000827●●●●●●
1605. 38980806 c.5905C>A p.L1969I missense 0.00000827●●●●●●
1606. 38980821 c.5920C>T p.R1974W missense 0.00000827●●●●●●
1607. 38980822 c.5921G>A p.R1974Q missense 0.00000827●●●●●●
1608. 38980826 c.5925C>G p.S1975R missense 0.00000827●●●●●●
1609. 38980827 c.5926C>G p.R1976G missense 0.00000827●●●●●●
1610. 38980828 c.5927G>T p.R1976L missense 0.00000827●●●●●●
1611. 38983196 c.6194G>A p.S2065N missense 0.00000827●●●●●●
1612. 38986890 c.6584C>T p.P2195L missense 0.00000827●●●●●●
1613. 38986958 c.6652G>A p.G2218S missense 0.00000827●●●●●●
1614. 38989767 c.6911G>C p.G2304A missense 0.00000827●●●●●●
1615. 38991475 c.7459C>A p.Q2487K missense 0.00000827●●●●●●
1616. 38991477 c.7461G>T p.Q2487H missense 0.00000827●●●●●●
1617. 38991524 c.7508T>C p.V2503A missense 0.00000827●●●●●●
1618. 38993558 c.7874G>T p.R2625L missense 0.00000827●●●●●●
1619. 38993560 c.7876C>G p.L2626V missense 0.00000827●●●●●●
1620. 38993561 c.7877T>G p.L2626R missense 0.00000827●●●●●●
1621. 38993564 c.7880T>C p.V2627A missense 0.00000827●●●●●●
1622. 38993576 c.7892C>A p.P2631H missense 0.00000827●●●●●●
1623. 38994987 c.8054C>T p.S2685F missense 0.00000827●●●●●●
1624. 38996454 c.8409G>T p.E2803D missense 0.00000827●●●●●●
1625. 39003015 c.9364G>C p.V3122L missense 0.00000827●●●●●●
1626. 39008254 c.9941C>G p.S3314C missense 0.00000827●●●●●●
1627. 39008283 c.9970G>A p.V3324I missense 0.00000827●●●●●●
1628. 39015988 c.10472A>G p.Q3491R missense 0.00000827●●●●●●
1629. 39015993 c.10477C>T p.R3493C missense 0.00000827●●●●●●
1630. 39015994 c.10478G>A p.R3493H missense 0.00000827●●●●●●
1631. 39015996 c.10480A>T p.T3494S missense 0.00000827●●●●●●
1632. 39016074 c.10558A>G p.I3520V missense 0.00000827●●●●●●
1633. 39063904 c.14086G>A p.D4696N missense 0.00000827●●●●●●
1634. 39068637 c.14252T>G p.I4751S missense 0.00000827●●●●●●
1635. 39068643 c.14258C>T p.A4753V missense 0.00000827●●●●●●
1636. 39071035 c.14537C>G p.A4846G missense 0.00000827●●●●●●
1637. 39076779 c.14917C>T p.P4973S missense 0.00000827●●●●●●
1638. 38990639 c.7306_7307delTG p.Ala2437ThrfsTer12 frameshift 0.00000827●●●●●●
1639. 38932981 c.166-8C>T splice site 0.00000827●●●●●●
1640. 38939151 c.957G>A splice site 0.00000827●●●●●●
1641. 38946399 c.1791+8C>T splice site 0.00000827●●●●●●
1642. 39019233 c.10938-6C>T splice site 0.00000827●●●●●●
1643. 39070773 c.14511+5G>T splice site 0.00000827●●●●●●
1644. 38990624 c.7291G>A p.D2431N missense 0.00000826●●●●●●
1645. 39016017 c.10501G>T p.D3501Y missense 0.00000826●●●●●●
1646. 38942446 c.1165C>A p.L389M missense 0.00000826●●●●●●
1647. 38946381 c.1781G>A p.R594K missense 0.00000826●●●●●●
1648. 38949781 c.2168-5T>C splice site 0.00000826●●●●●●
1649. 38983193 c.6191T>G p.M2064R missense 0.00000826●●●●●●
1650. 39019324 c.11023G>C p.D3675H missense 0.00000826●●●●●●
1651. 38951140 c.2486G>A p.R829Q missense 0.00000826●●●●●●
1652. 39013945 c.10436C>T p.A3479V missense 0.00000826●●●●●●
1653. 39019236 c.10938-3C>G splice site 0.00000826●●●●●●
1654. 39051956 c.12486delC p.L4163Wfs*73 frameshift 0.00000826●●●●●●
1655. 38959620 c.3396C>G p.H1132Q missense 0.00000826●●●●●●
1656. 38969095 c.4475A>G p.Y1492C missense 0.00000826●●●●●●
1657. 39016009 c.10493G>T p.R3498L missense 0.00000826●●●●●●
1658. 39051856 c.12386A>T p.N4129I missense 0.00000826●●●●●●
1659. 39051877 c.12407G>A p.R4136H missense 0.00000826●●●●●●
1660. 39058516 c.13618G>A p.E4540K missense 0.00000826●●●●●●
1661. 38933067 c.244G>C p.A82P missense 0.00000826●●●●●●
1662. 38934412 c.400G>A p.V134M missense 0.00000826●●●●●●
1663. 38934852 c.488G>A p.R163H missense 0.00000826●●●●●●
1664. 38934854 c.490G>A p.V164I missense 0.00000826●●●●●●
1665. 38937117 c.637G>A p.V213M missense 0.00000826●●●●●●
1666. 38937339 c.731T>C p.V244A missense 0.00000826●●●●●●
1667. 38937350 c.742G>T p.G248W missense 0.00000826●●●●●●
1668. 38942444 c.1163C>A p.S388X nonsense 0.00000826●●●●●●
1669. 38948716 c.1951C>T p.R651X nonsense 0.00000826●●●●●●
1670. 38948719 c.1954G>A p.A652T missense 0.00000826●●●●●●
1671. 38951139 c.2485C>G p.R829G missense 0.00000826●●●●●●
1672. 38958414 c.3343G>A p.G1115R missense 0.00000826●●●●●●
1673. 38960067 c.3679A>G p.I1227V missense 0.00000826●●●●●●
1674. 38968368 c.4312G>A p.V1438I missense 0.00000826●●●●●●
1675. 38968386 c.4330C>T p.P1444S missense 0.00000826●●●●●●
1676. 38969097 c.4477A>G p.M1493V missense 0.00000826●●●●●●
1677. 38969215 c.4595G>A p.G1532D missense 0.00000826●●●●●●
1678. 38981370 c.6125G>A p.C2042Y missense 0.00000826●●●●●●
1679. 38986904 c.6598G>A p.A2200T missense 0.00000826●●●●●●
1680. 38986905 c.6599C>A p.A2200E missense 0.00000826●●●●●●
1681. 38986919 c.6613G>A p.E2205K missense 0.00000826●●●●●●
1682. 38986919 c.6613G>C p.E2205Q missense 0.00000826●●●●●●
1683. 38989806 c.6950G>A p.G2317E missense 0.00000826●●●●●●
1684. 38989815 c.6959A>G p.D2320G missense 0.00000826●●●●●●
1685. 38990623 c.7290C>G p.I2430M missense 0.00000826●●●●●●
1686. 38991496 c.7480T>A p.F2494I missense 0.00000826●●●●●●
1687. 38991515 c.7499C>T p.A2500V missense 0.00000826●●●●●●
1688. 38994929 c.7996G>A p.V2666I missense 0.00000826●●●●●●
1689. 38994935 c.8002T>G p.S2668A missense 0.00000826●●●●●●
1690. 38996530 c.8485G>T p.G2829C missense 0.00000826●●●●●●
1691. 38997543 c.8767G>T p.A2923S missense 0.00000826●●●●●●
1692. 39002757 c.9218G>A p.R3073H missense 0.00000826●●●●●●
1693. 39002992 c.9341A>G p.K3114R missense 0.00000826●●●●●●
1694. 39003007 c.9356G>C p.R3119P missense 0.00000826●●●●●●
1695. 39003010 c.9359C>A p.T3120N missense 0.00000826●●●●●●
1696. 39013943 c.10434G>A p.M3478I missense 0.00000826●●●●●●
1697. 39016005 c.10489A>C p.K3497Q missense 0.00000826●●●●●●
1698. 39016011 c.10495C>G p.R3499G missense 0.00000826●●●●●●
1699. 39016015 c.10499G>A p.G3500E missense 0.00000826●●●●●●
1700. 39016029 c.10513G>C p.V3505L missense 0.00000826●●●●●●
1701. 39017670 c.10664A>G p.N3555S missense 0.00000826●●●●●●
1702. 39018982 c.10861C>T p.H3621Y missense 0.00000826●●●●●●
1703. 39019244 c.10943G>A p.R3648Q missense 0.00000826●●●●●●
1704. 39019322 c.11021T>C p.I3674T missense 0.00000826●●●●●●
1705. 39019324 c.11023G>A p.D3675N missense 0.00000826●●●●●●
1706. 39023335 c.11218G>A p.E3740K missense 0.00000826●●●●●●
1707. 39025844 c.11423A>G p.N3808S missense 0.00000826●●●●●●
1708. 39051858 c.12388C>T p.R4130C missense 0.00000826●●●●●●
1709. 39051859 c.12389G>A p.R4130H missense 0.00000826●●●●●●
1710. 39051859 c.12389G>C p.R4130P missense 0.00000826●●●●●●
1711. 39051881 c.12411C>G p.D4137E missense 0.00000826●●●●●●
1712. 39051933 c.12463C>G p.H4155D missense 0.00000826●●●●●●
1713. 39051949 c.12479A>T p.H4160L missense 0.00000826●●●●●●
1714. 39051966 c.12496G>A p.A4166T missense 0.00000826●●●●●●
1715. 39051969 c.12499G>T p.E4167X nonsense 0.00000826●●●●●●
1716. 39051970 c.12500A>C p.E4167A missense 0.00000826●●●●●●
1717. 39058521 c.13623C>G p.F4541L missense 0.00000826●●●●●●
1718. 39058526 c.13628G>C p.G4543A missense 0.00000826●●●●●●
1719. 39062887 c.13975A>G p.I4659V missense 0.00000826●●●●●●
1720. 39062890 c.13978A>T p.I4660F missense 0.00000826●●●●●●
1721. 39068621 c.14236C>A p.L4746M missense 0.00000826●●●●●●
1722. 39076776 c.14914A>T p.T4972S missense 0.00000826●●●●●●
1723. 38934274 c.345+2T>C essential splice site 0.00000826●●●●●●
1724. 39016058 c.10542_10544delGAA p.Lys3516del inframe 0.00000826●●●●●●
1725. 39019237 c.10938-2A>C essential splice site 0.00000826●●●●●●
1726. 38946395 c.1791+4G>A splice site 0.00000826●●●●●●
1727. 39019236 c.10938-3C>T splice site 0.00000826●●●●●●
1728. 39023126 c.11142-4C>G splice site 0.00000826●●●●●●
1729. 39023308 c.11194-3C>T splice site 0.00000826●●●●●●
1730. 39038869 c.12095-4G>T splice site 0.00000826●●●●●●
1731. 39039064 c.12282+4G>A splice site 0.00000826●●●●●●
1732. 39058406 c.13515-7C>T splice site 0.00000826●●●●●●
1733. 39068551 c.14173-7T>C splice site 0.00000826●●●●●●
1734. 39068552 c.14173-6G>A splice site 0.00000826●●●●●●
1735. 39068560 c.14175C>T splice site 0.00000826●●●●●●
1736. 38933001 c.178G>A p.D60N missense 0.00000825●●●●●●
1737. 38994959 c.8026C>T p.R2676W missense 0.00000825●●●●●●
1738. 39068595 c.14210G>A p.R4737Q missense 0.00000825●●●●●●
1739. 39071043 c.14545G>A p.V4849I missense 0.00000825●●●●●●
1740. 38939319 c.988G>A p.V330M missense 0.00000825●●●●●●
1741. 38960032 c.3644T>C p.I1215T missense 0.00000825●●●●●●
1742. 38969127 c.4507G>A p.G1503R missense 0.00000825●●●●●●
1743. 39002983 c.9332G>A p.R3111Q missense 0.00000825●●●●●●
1744. 38933047 c.224G>A p.R75Q missense 0.00000825●●●●●●
1745. 38949908 c.2290C>T p.Q764X nonsense 0.00000825●●●●●●
1746. 38969116 c.4496T>C p.F1499S missense 0.00000825●●●●●●
1747. 38996477 c.8432A>C p.E2811A missense 0.00000825●●●●●●
1748. 38998474 c.8932+7A>G splice site 0.00000825●●●●●●
1749. 39002892 c.9241A>G p.M3081V missense 0.00000825●●●●●●
1750. 39068589 c.14204G>A p.R4735Q missense 0.00000825●●●●●●
1751. 39023167 c.11179G>C p.D3727H missense 0.00000825●●●●●●
1752. 39034307 c.11907+7C>T splice site 0.00000825●●●●●●
1753. 38933004 c.181C>G p.L61V missense 0.00000825●●●●●●
1754. 38934361 c.349C>G p.L117V missense 0.00000825●●●●●●
1755. 38934365 c.353G>A p.S118N missense 0.00000825●●●●●●
1756. 38934392 c.380C>T p.T127I missense 0.00000825●●●●●●
1757. 38939308 c.977C>T p.P326L missense 0.00000825●●●●●●
1758. 38939314 c.983G>A p.R328Q missense 0.00000825●●●●●●
1759. 38942468 c.1187A>C p.E396A missense 0.00000825●●●●●●
1760. 38949806 c.2188A>G p.T730A missense 0.00000825●●●●●●
1761. 38949930 c.2312A>G p.N771S missense 0.00000825●●●●●●
1762. 38951131 c.2477A>C p.K826T missense 0.00000825●●●●●●
1763. 38951134 c.2480A>T p.E827V missense 0.00000825●●●●●●
1764. 38958263 c.3192C>G p.N1064K missense 0.00000825●●●●●●
1765. 38958382 c.3311C>G p.A1104G missense 0.00000825●●●●●●
1766. 38958399 c.3328C>G p.P1110A missense 0.00000825●●●●●●
1767. 38959956 c.3568G>A p.V1190I missense 0.00000825●●●●●●
1768. 38959963 c.3575G>C p.S1192T missense 0.00000825●●●●●●
1769. 38959974 c.3586G>A p.G1196S missense 0.00000825●●●●●●
1770. 38960014 c.3626C>T p.S1209F missense 0.00000825●●●●●●
1771. 38960034 c.3646T>G p.C1216G missense 0.00000825●●●●●●
1772. 38960040 c.3652C>T p.L1218F missense 0.00000825●●●●●●
1773. 38960046 c.3658G>A p.E1220K missense 0.00000825●●●●●●
1774. 38969106 c.4486G>C p.G1496R missense 0.00000825●●●●●●
1775. 38969127 c.4507G>C p.G1503R missense 0.00000825●●●●●●
1776. 38969140 c.4520G>A p.R1507Q missense 0.00000825●●●●●●
1777. 38969143 c.4523T>G p.I1508S missense 0.00000825●●●●●●
1778. 38969198 c.4578G>A p.M1526I missense 0.00000825●●●●●●
1779. 38983147 c.6145G>C p.E2049Q missense 0.00000825●●●●●●
1780. 38989844 c.6988C>T p.R2330C missense 0.00000825●●●●●●
1781. 38990586 c.7253T>C p.L2418P missense 0.00000825●●●●●●
1782. 38990597 c.7264A>G p.I2422V missense 0.00000825●●●●●●
1783. 38994944 c.8011G>A p.E2671K missense 0.00000825●●●●●●
1784. 38994964 c.8031A>T p.K2677N missense 0.00000825●●●●●●
1785. 38994968 c.8035T>A p.F2679I missense 0.00000825●●●●●●
1786. 38996491 c.8446A>G p.M2816V missense 0.00000825●●●●●●
1787. 38996510 c.8465C>T p.T2822M missense 0.00000825●●●●●●
1788. 38996952 c.8551C>T p.P2851S missense 0.00000825●●●●●●
1789. 38997111 c.8617G>A p.A2873T missense 0.00000825●●●●●●
1790. 39002756 c.9217C>T p.R3073C missense 0.00000825●●●●●●
1791. 39002768 c.9229G>A p.A3077T missense 0.00000825●●●●●●
1792. 39002894 c.9243G>A p.M3081I missense 0.00000825●●●●●●
1793. 39002913 c.9262G>C p.V3088L missense 0.00000825●●●●●●
1794. 39002944 c.9293G>T p.S3098I missense 0.00000825●●●●●●
1795. 39002953 c.9302A>G p.E3101G missense 0.00000825●●●●●●
1796. 39002960 c.9309C>G p.I3103M missense 0.00000825●●●●●●
1797. 39017647 c.10641G>C p.E3547D missense 0.00000825●●●●●●
1798. 39017657 c.10651G>A p.E3551K missense 0.00000825●●●●●●
1799. 39018986 c.10865A>G p.K3622R missense 0.00000825●●●●●●
1800. 39018988 c.10867C>G p.L3623V missense 0.00000825●●●●●●
1801. 39019007 c.10886G>A p.R3629Q missense 0.00000825●●●●●●
1802. 39019018 c.10897G>A p.V3633M missense 0.00000825●●●●●●
1803. 39019031 c.10910G>C p.R3637P missense 0.00000825●●●●●●
1804. 39019049 c.10928A>G p.N3643S missense 0.00000825●●●●●●
1805. 39019049 c.10928A>T p.N3643I missense 0.00000825●●●●●●
1806. 39019247 c.10946C>T p.A3649V missense 0.00000825●●●●●●
1807. 39019253 c.10952A>G p.N3651S missense 0.00000825●●●●●●
1808. 39019267 c.10966A>G p.S3656G missense 0.00000825●●●●●●
1809. 39019271 c.10970A>G p.Y3657C missense 0.00000825●●●●●●
1810. 39019297 c.10996G>A p.D3666N missense 0.00000825●●●●●●
1811. 39019300 c.10999C>T p.H3667Y missense 0.00000825●●●●●●
1812. 39019303 c.11002A>G p.S3668G missense 0.00000825●●●●●●
1813. 39019316 c.11015G>A p.R3672H missense 0.00000825●●●●●●
1814. 39023137 c.11149G>C p.D3717H missense 0.00000825●●●●●●
1815. 39023161 c.11173T>G p.Y3725D missense 0.00000825●●●●●●
1816. 39023168 c.11180A>G p.D3727G missense 0.00000825●●●●●●
1817. 39023171 c.11183T>C p.I3728T missense 0.00000825●●●●●●
1818. 39023320 c.11203C>A p.L3735M missense 0.00000825●●●●●●
1819. 39034295 c.11902A>C p.I3968L missense 0.00000825●●●●●●
1820. 39034298 c.11905C>T p.Q3969X nonsense 0.00000825●●●●●●
1821. 39038876 c.12098A>C p.N4033T missense 0.00000825●●●●●●
1822. 39039058 c.12280A>C p.K4094Q missense 0.00000825●●●●●●
1823. 39058433 c.13535A>G p.E4512G missense 0.00000825●●●●●●
1824. 39058441 c.13543C>A p.P4515T missense 0.00000825●●●●●●
1825. 39058444 c.13546G>A p.E4516K missense 0.00000825●●●●●●
1826. 39058481 c.13583C>T p.P4528L missense 0.00000825●●●●●●
1827. 39058486 c.13588C>T p.P4530S missense 0.00000825●●●●●●
1828. 39058487 c.13589C>T p.P4530L missense 0.00000825●●●●●●
1829. 39062881 c.13969C>G p.L4657V missense 0.00000825●●●●●●
1830. 39063877 c.14059C>A p.L4687M missense 0.00000825●●●●●●
1831. 39066596 c.14167C>A p.R4723S missense 0.00000825●●●●●●
1832. 39068583 c.14198A>G p.Y4733C missense 0.00000825●●●●●●
1833. 39076741 c.14879T>G p.F4960C missense 0.00000825●●●●●●
1834. 38934788 c.425-1G>A essential splice site 0.00000825●●●●●●
1835. 38939312 c.981_982delGC p.Arg328GlyfsTer9 frameshift 0.00000825●●●●●●
1836. 39017667 c.10661_10663delACA p.Asn3556del inframe 0.00000825●●●●●●
1837. 39023173 c.11185_11186insT p.Met3729IlefsTer15 frameshift 0.00000825●●●●●●
1838. 38934786 c.425-3T>C splice site 0.00000825●●●●●●
1839. 38934790 c.426A>G splice site 0.00000825●●●●●●
1840. 38939282 c.958-7C>G splice site 0.00000825●●●●●●
1841. 38959938 c.3557-7C>A splice site 0.00000825●●●●●●
1842. 38989887 c.7027+4A>G splice site 0.00000825●●●●●●
1843. 38989891 c.7027+8G>A splice site 0.00000825●●●●●●
1844. 39002885 c.9234G>A splice site 0.00000825●●●●●●
1845. 39013850 c.10348-7C>T splice site 0.00000825●●●●●●
1846. 39023303 c.11194-8C>T splice site 0.00000825●●●●●●
1847. 39066605 c.14172+4A>G splice site 0.00000825●●●●●●
1848. 39071148 c.14646+4A>G splice site 0.00000825●●●●●●
1849. 39077960 c.15022-5C>T splice site 0.00000825●●●●●●
1850. 38942486 c.1205T>C p.M402T missense 0.00000824●●●●●●
1851. 38942490 c.1209C>G p.I403M missense 0.00000824●●●●●●
1852. 38946123 c.1609G>A p.A537T missense 0.00000824●●●●●●
1853. 38951109 c.2455C>T p.R819X nonsense 0.00000824●●●●●●
1854. 38980018 c.5749G>T p.E1917X nonsense 0.00000824●●●●●●
1855. 39001361 c.9062C>T p.P3021L missense 0.00000824●●●●●●
1856. 39062797 c.13885G>A p.V4629M missense 0.00000824●●●●●●
1857. 39076592 c.14818G>A p.A4940T missense 0.00000824●●●●●●
1858. 38924509 c.40C>T p.R14W missense 0.00000824●●●●●●
1859. 38924514 c.45G>A p.T15T splice site 0.00000824●●●●●●
1860. 38939370 c.1039G>A p.V347M missense 0.00000824●●●●●●
1861. 38942501 c.1220A>G p.N407S missense 0.00000824●●●●●●
1862. 38942525 c.1244A>G p.K415R missense 0.00000824●●●●●●
1863. 38948222 c.1877C>G p.P626R missense 0.00000824●●●●●●
1864. 38951038 c.2384G>A p.R795H missense 0.00000824●●●●●●
1865. 38951103 c.2449C>T p.R817X nonsense 0.00000824●●●●●●
1866. 38958282 c.3211G>A p.V1071M missense 0.00000824●●●●●●
1867. 38959687 c.3463A>G p.T1155A missense 0.00000824●●●●●●
1868. 38980042 c.5773G>A p.G1925R missense 0.00000824●●●●●●
1869. 38996982 c.8581G>A p.D2861N missense 0.00000824●●●●●●
1870. 39019276 c.10975G>C p.A3659P missense 0.00000824●●●●●●
1871. 39034020 c.11723A>G p.N3908S missense 0.00000824●●●●●●
1872. 39070706 c.14449A>G p.I4817V missense 0.00000824●●●●●●
1873. 38946014 c.1576+4G>A splice site 0.00000824●●●●●●
1874. 38946084 c.1577-7C>G splice site 0.00000824●●●●●●
1875. 38951061 c.2407C>T p.P803S missense 0.00000824●●●●●●
1876. 38954390 c.2686C>T p.R896W missense 0.00000824●●●●●●
1877. 38954405 c.2701A>G p.R901G missense 0.00000824●●●●●●
1878. 38979812 c.5548-5T>C splice site 0.00000824●●●●●●
1879. 38995556 c.8231+5G>A splice site 0.00000824●●●●●●
1880. 38998472 c.8932+5G>C splice site 0.00000824●●●●●●
1881. 39001201 c.8996C>G p.A2999G missense 0.00000824●●●●●●
1882. 39001313 c.9014T>C p.L3005S missense 0.00000824●●●●●●
1883. 39002201 c.9123C>T p.S3041S splice site 0.00000824●●●●●●
1884. 39062719 c.13807G>C p.G4603R missense 0.00000824●●●●●●
1885. 39062818 c.13906A>G p.S4636G missense 0.00000824●●●●●●
1886. 39071141 c.14643G>T p.M4881I missense 0.00000824●●●●●●
1887. 38973719 c.4673_4674insG p.N1559Efs*6 frameshift 0.00000824●●●●●●
1888. 38998423 c.8888T>C p.L2963P missense 0.00000824●●●●●●
1889. 38942523 c.1242C>G p.I414M missense 0.00000824●●●●●●
1890. 38945912 c.1478T>C p.L493P missense 0.00000824●●●●●●
1891. 38946108 c.1594A>G p.N532D missense 0.00000824●●●●●●
1892. 38948174 c.1829G>A p.G610D missense 0.00000824●●●●●●
1893. 38959670 c.3446G>A p.G1149D missense 0.00000824●●●●●●
1894. 38998390 c.8855A>T p.E2952V missense 0.00000824●●●●●●
1895. 39026032 c.11516G>T p.S3839I missense 0.00000824●●●●●●
1896. 39071061 c.14563G>T p.V4855L missense 0.00000824●●●●●●
1897. 38924512 c.43A>G p.T15A missense 0.00000824●●●●●●
1898. 38924513 c.44C>T p.T15M missense 0.00000824●●●●●●
1899. 38934811 c.447G>T p.M149I missense 0.00000824●●●●●●
1900. 38937139 c.659G>A p.R220H missense 0.00000824●●●●●●
1901. 38937148 c.668A>G p.H223R missense 0.00000824●●●●●●
1902. 38937155 c.675T>G p.H225Q missense 0.00000824●●●●●●
1903. 38937157 c.677T>C p.M226T missense 0.00000824●●●●●●
1904. 38937166 c.686G>A p.C229Y missense 0.00000824●●●●●●
1905. 38937187 c.707A>C p.D236A missense 0.00000824●●●●●●
1906. 38937189 c.709A>G p.S237G missense 0.00000824●●●●●●
1907. 38937192 c.712G>A p.D238N missense 0.00000824●●●●●●
1908. 38937202 c.722G>A p.R241H missense 0.00000824●●●●●●
1909. 38939332 c.1001G>A p.G334D missense 0.00000824●●●●●●
1910. 38939337 c.1006C>T p.P336S missense 0.00000824●●●●●●
1911. 38939370 c.1039G>C p.V347L missense 0.00000824●●●●●●
1912. 38939395 c.1064G>A p.W355X nonsense 0.00000824●●●●●●
1913. 38942485 c.1204A>G p.M402V missense 0.00000824●●●●●●
1914. 38942503 c.1222G>A p.G408S missense 0.00000824●●●●●●
1915. 38942516 c.1235A>G p.Q412R missense 0.00000824●●●●●●
1916. 38945875 c.1441G>A p.G481R missense 0.00000824●●●●●●
1917. 38945881 c.1447C>T p.L483F missense 0.00000824●●●●●●
1918. 38945908 c.1474C>G p.R492G missense 0.00000824●●●●●●
1919. 38945936 c.1502A>G p.H501R missense 0.00000824●●●●●●
1920. 38945963 c.1529C>T p.A510V missense 0.00000824●●●●●●
1921. 38945975 c.1541G>T p.W514L missense 0.00000824●●●●●●
1922. 38945982 c.1548G>C p.E516D missense 0.00000824●●●●●●
1923. 38945995 c.1561C>G p.L521V missense 0.00000824●●●●●●
1924. 38946094 c.1580C>T p.S527F missense 0.00000824●●●●●●
1925. 38946109 c.1595A>G p.N532S missense 0.00000824●●●●●●
1926. 38946275 c.1675A>G p.I559V missense 0.00000824●●●●●●
1927. 38946290 c.1690T>C p.Y564H missense 0.00000824●●●●●●
1928. 38946291 c.1691A>T p.Y564F missense 0.00000824●●●●●●
1929. 38946314 c.1714G>A p.E572K missense 0.00000824●●●●●●
1930. 38948145 c.1800C>A p.D600E missense 0.00000824●●●●●●
1931. 38948146 c.1801G>T p.V601L missense 0.00000824●●●●●●
1932. 38948152 c.1807T>C p.C603R missense 0.00000824●●●●●●
1933. 38948173 c.1828G>A p.G610S missense 0.00000824●●●●●●
1934. 38948188 c.1843T>C p.S615P missense 0.00000824●●●●●●
1935. 38948189 c.1844C>G p.S615C missense 0.00000824●●●●●●
1936. 38948230 c.1885G>A p.E629K missense 0.00000824●●●●●●
1937. 38948237 c.1892T>G p.L631R missense 0.00000824●●●●●●
1938. 38948248 c.1903A>G p.N635D missense 0.00000824●●●●●●
1939. 38949834 c.2216C>T p.P739L missense 0.00000824●●●●●●
1940. 38949849 c.2231G>C p.S744T missense 0.00000824●●●●●●
1941. 38949855 c.2237G>C p.C746S missense 0.00000824●●●●●●
1942. 38949878 c.2260A>G p.I754V missense 0.00000824●●●●●●
1943. 38949896 c.2278G>A p.G760S missense 0.00000824●●●●●●
1944. 38949905 c.2287G>A p.V763M missense 0.00000824●●●●●●
1945. 38951019 c.2365C>T p.R789W missense 0.00000824●●●●●●
1946. 38951051 c.2397C>A p.F799L missense 0.00000824●●●●●●
1947. 38951058 c.2404C>G p.L802V missense 0.00000824●●●●●●
1948. 38951112 c.2458C>T p.L820F missense 0.00000824●●●●●●
1949. 38951115 c.2461C>A p.H821N missense 0.00000824●●●●●●
1950. 38951117 c.2463T>A p.H821Q missense 0.00000824●●●●●●
1951. 38951123 c.2469A>C p.E823D missense 0.00000824●●●●●●
1952. 38951124 c.2470C>A p.P824T missense 0.00000824●●●●●●
1953. 38954402 c.2698A>G p.K900E missense 0.00000824●●●●●●
1954. 38958288 c.3217A>T p.I1073F missense 0.00000824●●●●●●
1955. 38958288 c.3217A>G p.I1073V missense 0.00000824●●●●●●
1956. 38958289 c.3218T>C p.I1073T missense 0.00000824●●●●●●
1957. 38958295 c.3224G>A p.R1075Q missense 0.00000824●●●●●●
1958. 38958304 c.3233A>C p.K1078T missense 0.00000824●●●●●●
1959. 38958307 c.3236C>G p.S1079C missense 0.00000824●●●●●●
1960. 38958316 c.3245T>C p.V1082A missense 0.00000824●●●●●●
1961. 38958322 c.3251G>A p.S1084N missense 0.00000824●●●●●●
1962. 38958323 c.3252C>A p.S1084R missense 0.00000824●●●●●●
1963. 38958324 c.3253G>A p.G1085S missense 0.00000824●●●●●●
1964. 38958360 c.3289G>A p.G1097S missense 0.00000824●●●●●●
1965. 38958370 c.3299G>A p.R1100H missense 0.00000824●●●●●●
1966. 38959646 c.3422C>T p.P1141L missense 0.00000824●●●●●●
1967. 38959660 c.3436G>A p.D1146N missense 0.00000824●●●●●●
1968. 38959681 c.3457G>A p.D1153N missense 0.00000824●●●●●●
1969. 38959684 c.3460C>T p.L1154F missense 0.00000824●●●●●●
1970. 38959693 c.3469A>G p.N1157D missense 0.00000824●●●●●●
1971. 38959723 c.3499G>T p.V1167F missense 0.00000824●●●●●●
1972. 38959731 c.3507G>A p.M1169I missense 0.00000824●●●●●●
1973. 38959777 c.3553G>T p.D1185Y missense 0.00000824●●●●●●
1974. 38973667 c.4621G>A p.V1541M missense 0.00000824●●●●●●
1975. 38973667 c.4621G>C p.V1541L missense 0.00000824●●●●●●
1976. 38973743 c.4697G>C p.G1566A missense 0.00000824●●●●●●
1977. 38973746 c.4700A>G p.K1567R missense 0.00000824●●●●●●
1978. 38980013 c.5744A>C p.E1915A missense 0.00000824●●●●●●
1979. 38980015 c.5746G>C p.G1916R missense 0.00000824●●●●●●
1980. 38980015 c.5746G>T p.G1916W missense 0.00000824●●●●●●
1981. 38980051 c.5782C>T p.Q1928X nonsense 0.00000824●●●●●●
1982. 38980073 c.5804T>C p.V1935A missense 0.00000824●●●●●●
1983. 38981288 c.6043G>C p.G2015R missense 0.00000824●●●●●●
1984. 38981294 c.6049G>A p.D2017N missense 0.00000824●●●●●●
1985. 38981315 c.6070C>T p.P2024S missense 0.00000824●●●●●●
1986. 38981327 c.6082C>T p.R2028X nonsense 0.00000824●●●●●●
1987. 38995457 c.8137G>A p.D2713N missense 0.00000824●●●●●●
1988. 38995470 c.8150C>T p.A2717V missense 0.00000824●●●●●●
1989. 38995481 c.8161T>C p.S2721P missense 0.00000824●●●●●●
1990. 38995485 c.8165A>T p.K2722M missense 0.00000824●●●●●●
1991. 38995496 c.8176A>G p.K2726E missense 0.00000824●●●●●●
1992. 38995500 c.8180C>T p.A2727V missense 0.00000824●●●●●●
1993. 38995511 c.8191G>A p.A2731T missense 0.00000824●●●●●●
1994. 38995529 c.8209C>A p.P2737T missense 0.00000824●●●●●●
1995. 38995532 c.8212C>G p.R2738G missense 0.00000824●●●●●●
1996. 38995533 c.8213G>A p.R2738Q missense 0.00000824●●●●●●
1997. 38995668 c.8257T>C p.S2753P missense 0.00000824●●●●●●
1998. 38995681 c.8270A>C p.K2757T missense 0.00000824●●●●●●
1999. 38996971 c.8570C>T p.P2857L missense 0.00000824●●●●●●
2000. 38996992 c.8591C>T p.A2864V missense 0.00000824●●●●●●
2001. 38997001 c.8600T>G p.L2867R missense 0.00000824●●●●●●
2002. 38998360 c.8825A>G p.K2942R missense 0.00000824●●●●●●
2003. 38998378 c.8843C>G p.S2948W missense 0.00000824●●●●●●
2004. 38998416 c.8881C>A p.Q2961K missense 0.00000824●●●●●●
2005. 38998428 c.8893C>A p.R2965S missense 0.00000824●●●●●●
2006. 39001156 c.8951G>A p.G2984E missense 0.00000824●●●●●●
2007. 39001159 c.8954G>A p.R2985Q missense 0.00000824●●●●●●
2008. 39001174 c.8969C>T p.P2990L missense 0.00000824●●●●●●
2009. 39001182 c.8977C>T p.Q2993X nonsense 0.00000824●●●●●●
2010. 39001334 c.9035A>G p.N3012S missense 0.00000824●●●●●●
2011. 39001345 c.9046T>C p.Y3016H missense 0.00000824●●●●●●
2012. 39001369 c.9070G>A p.V3024M missense 0.00000824●●●●●●
2013. 39001389 c.9090C>A p.H3030Q missense 0.00000824●●●●●●
2014. 39001413 c.9114G>A p.M3038I missense 0.00000824●●●●●●
2015. 39002203 c.9125T>G p.L3042R missense 0.00000824●●●●●●
2016. 39002236 c.9158G>A p.R3053Q missense 0.00000824●●●●●●
2017. 39002241 c.9163T>A p.S3055T missense 0.00000824●●●●●●
2018. 39002247 c.9169T>C p.F3057L missense 0.00000824●●●●●●
2019. 39002249 c.9171T>G p.F3057L missense 0.00000824●●●●●●
2020. 39025966 c.11450A>G p.D3817G missense 0.00000824●●●●●●
2021. 39025981 c.11465A>G p.K3822R missense 0.00000824●●●●●●
2022. 39026014 c.11498C>T p.A3833V missense 0.00000824●●●●●●
2023. 39026016 c.11500C>G p.L3834V missense 0.00000824●●●●●●
2024. 39028531 c.11620A>G p.M3874V missense 0.00000824●●●●●●
2025. 39028534 c.11623G>A p.A3875T missense 0.00000824●●●●●●
2026. 39028564 c.11653C>T p.R3885X nonsense 0.00000824●●●●●●
2027. 39034043 c.11746A>G p.I3916V missense 0.00000824●●●●●●
2028. 39034068 c.11771G>A p.R3924Q missense 0.00000824●●●●●●
2029. 39034190 c.11797T>C p.Y3933H missense 0.00000824●●●●●●
2030. 39034235 c.11842A>G p.R3948G missense 0.00000824●●●●●●
2031. 39037114 c.12042G>C p.E4014D missense 0.00000824●●●●●●
2032. 39037132 c.12060G>T p.K4020N missense 0.00000824●●●●●●
2033. 39037140 c.12068T>C p.V4023A missense 0.00000824●●●●●●
2034. 39038890 c.12112A>C p.M4038L missense 0.00000824●●●●●●
2035. 39038905 c.12127A>G p.M4043V missense 0.00000824●●●●●●
2036. 39038914 c.12136A>G p.M4046V missense 0.00000824●●●●●●
2037. 39038920 c.12142G>T p.V4048L missense 0.00000824●●●●●●
2038. 39038936 c.12158A>C p.N4053T missense 0.00000824●●●●●●
2039. 39038938 c.12160G>T p.V4054L missense 0.00000824●●●●●●
2040. 39038939 c.12161T>G p.V4054G missense 0.00000824●●●●●●
2041. 39038947 c.12169A>T p.I4057F missense 0.00000824●●●●●●
2042. 39038966 c.12188T>C p.M4063T missense 0.00000824●●●●●●
2043. 39038992 c.12214G>T p.G4072C missense 0.00000824●●●●●●
2044. 39038996 c.12218C>T p.S4073F missense 0.00000824●●●●●●
2045. 39039040 c.12262T>C p.S4088P missense 0.00000824●●●●●●
2046. 39061259 c.13672C>T p.R4558W missense 0.00000824●●●●●●
2047. 39061281 c.13694T>G p.F4565C missense 0.00000824●●●●●●
2048. 39061298 c.13711G>T p.A4571S missense 0.00000824●●●●●●
2049. 39062720 c.13808G>A p.G4603D missense 0.00000824●●●●●●
2050. 39062738 c.13826G>A p.S4609N missense 0.00000824●●●●●●
2051. 39062747 c.13835G>A p.W4612X nonsense 0.00000824●●●●●●
2052. 39062758 c.13846G>T p.A4616S missense 0.00000824●●●●●●
2053. 39062759 c.13847C>G p.A4616G missense 0.00000824●●●●●●
2054. 39062777 c.13865G>C p.G4622A missense 0.00000824●●●●●●
2055. 39062786 c.13874A>G p.D4625G missense 0.00000824●●●●●●
2056. 39062813 c.13901A>T p.E4634V missense 0.00000824●●●●●●
2057. 39062830 c.13918A>G p.M4640V missense 0.00000824●●●●●●
2058. 39062836 c.13924C>G p.P4642A missense 0.00000824●●●●●●
2059. 39063832 c.14014T>C p.F4672L missense 0.00000824●●●●●●
2060. 39066567 c.14138C>G p.P4713R missense 0.00000824●●●●●●
2061. 39066578 c.14149T>C p.W4717R missense 0.00000824●●●●●●
2062. 39070642 c.14385G>T p.W4795C missense 0.00000824●●●●●●
2063. 39070642 c.14385G>A p.W4795X nonsense 0.00000824●●●●●●
2064. 39070718 c.14461G>T p.V4821F missense 0.00000824●●●●●●
2065. 39070730 c.14473C>A p.R4825S missense 0.00000824●●●●●●
2066. 39070733 c.14476A>C p.T4826P missense 0.00000824●●●●●●
2067. 39071091 c.14593A>G p.N4865D missense 0.00000824●●●●●●
2068. 39071118 c.14620G>A p.D4874N missense 0.00000824●●●●●●
2069. 39071118 c.14620G>C p.D4874H missense 0.00000824●●●●●●
2070. 39076589 c.14815G>A p.D4939N missense 0.00000824●●●●●●
2071. 39077177 c.14982G>A p.M4994I missense 0.00000824●●●●●●
2072. 39077214 c.15019C>A p.Q5007K missense 0.00000824●●●●●●
2073. 38924481 c.12_14delAGA p.Glu5del inframe 0.00000824●●●●●●
2074. 38937172 c.692delC p.Ile232PhefsTer33 frameshift 0.00000824●●●●●●
2075. 38948154 c.1809delC p.Ser604ProfsTer62 frameshift 0.00000824●●●●●●
2076. 38951014 c.2361-1G>T essential splice site 0.00000824●●●●●●
2077. 38995387 c.8068-1G>C essential splice site 0.00000824●●●●●●
2078. 38998378 c.8843delC p.Ser2948CysfsTer58 frameshift 0.00000824●●●●●●
2079. 39001298 c.9001-2A>G essential splice site 0.00000824●●●●●●
2080. 39002200 c.9123-1G>C essential splice site 0.00000824●●●●●●
2081. 39039019 c.12241_12242delAC p.Thr4081GlyfsTer37 frameshift 0.00000824●●●●●●
2082. 39062678 c.13766_13769delGGGA p.Glu4590ThrfsTer57 frameshift 0.00000824●●●●●●
2083. 39063824 c.14006delT p.Leu4669ArgfsTer2 frameshift 0.00000824●●●●●●
2084. 39076643 c.14868+1G>A essential splice site 0.00000824●●●●●●
2085. 38945868 c.1441-7A>C splice site 0.00000824●●●●●●
2086. 38945877 c.1443G>T splice site 0.00000824●●●●●●
2087. 38946017 c.1576+7G>A splice site 0.00000824●●●●●●
2088. 38946083 c.1577-8C>T splice site 0.00000824●●●●●●
2089. 38946084 c.1577-7C>T splice site 0.00000824●●●●●●
2090. 38946268 c.1673-5G>A splice site 0.00000824●●●●●●
2091. 38946269 c.1673-4G>T splice site 0.00000824●●●●●●
2092. 38948129 c.1792-8A>T splice site 0.00000824●●●●●●
2093. 38948274 c.1925+4T>C splice site 0.00000824●●●●●●
2094. 38948276 c.1925+6G>T splice site 0.00000824●●●●●●
2095. 38973757 c.4707+4C>A splice site 0.00000824●●●●●●
2096. 38973760 c.4707+7G>A splice site 0.00000824●●●●●●
2097. 38980088 c.5814+5G>T splice site 0.00000824●●●●●●
2098. 38995637 c.8232-6C>T splice site 0.00000824●●●●●●
2099. 38995726 c.8310+5_8310+6insGC splice site 0.00000824●●●●●●
2100. 38997020 c.8616+3_8616+4delGA splice site 0.00000824●●●●●●
2101. 38998344 c.8817-8C>T splice site 0.00000824●●●●●●
2102. 38998345 c.8817-7C>A splice site 0.00000824●●●●●●
2103. 38998345 c.8817-7C>T splice site 0.00000824●●●●●●
2104. 38998346 c.8817-6A>C splice site 0.00000824●●●●●●
2105. 38998471 c.8932+4C>T splice site 0.00000824●●●●●●
2106. 39001135 c.8933-3C>T splice site 0.00000824●●●●●●
2107. 39033982 c.11690-5C>G splice site 0.00000824●●●●●●
2108. 39034078 c.11778+3G>C splice site 0.00000824●●●●●●
2109. 39070615 c.14365-7C>T splice site 0.00000824●●●●●●
2110. 39070619 c.14365-3C>G splice site 0.00000824●●●●●●
2111. 39076575 c.14804-3C>T splice site 0.00000824●●●●●●
2112. 39076646 c.14868+4delG splice site 0.00000824●●●●●●
2113. 39076647 c.14868+5G>T splice site 0.00000824●●●●●●
2114. 39076650 c.14868+8A>G splice site 0.00000824●●●●●●
2115. 39077158 c.14970-7C>T splice site 0.00000824●●●●●●
2116. 39077967 c.15024G>A splice site 0.00000824●●●●●●

* This highlights the relative frequency of the variant in the ExAC populations - Non-Finnish European, African, East Asian, South Asian, American and Finnish. Higher frequencies are denoted by darker shades of green, variants absent in a population are coloured light gray.

✝ Genomic coordinates refer to the GRCh37 release of the human genome.