MYOM1 missense variants in ExAC

MYOM1 gene summary
MYOM1 variants in

The table below lists the MYOM1 missense 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. 3215158 c.64G>C p.V22L missense 0.10696710●●●●●●
2. 3193918 c.329C>T p.S110F missense 0.00000840●●●●●●
3. 3188978 c.539C>T p.T180I missense 0.00143240●●●●●●
4. 3188976 c.541T>C p.S181P missense 0.43735299●●●●●●
5. 3188873 c.644C>T p.T215M missense 0.05654999●●●●●●
6. 3151736 c.1799A>T p.E600V missense 0.00496395●●●●●●
7. 3135575 c.2179A>G p.T727A missense 0.00133737●●●●●●
8. 3126811 c.2879T>C p.I960T missense 0.19973158●●●●●●
9. 3089558 c.4046G>A p.R1349Q missense 0.00006937●●●●●●
10. 3086065 c.4222G>A p.D1408N missense 0.07286908●●●●●●
11. 3084007 c.4358T>C p.M1453T missense 0.02947275●●●●●●
12. 3083803 c.4468G>A p.V1490I missense 0.00007550●●●●●●
13. 3071878 c.4718G>A p.R1573Q missense 0.00860612●●●●●●
14. 3176040 c.1022G>C p.G341A missense 0.73841187●●●●●●
15. 3086040 c.4247C>T p.T1416I missense 0.00000839●●●●●●
16. 3094191 c.3841G>A p.E1281K missense 0.00056376●●●●●●
17. 3102499 c.3548G>A p.R1183Q missense 0.00024125●●●●●●
18. 3102554 c.3493C>T p.P1165S missense 0.00041411●●●●●●
19. 3102594 c.3453T>A p.D1151E missense 0.00162416●●●●●●
20. 3112301 c.3413G>A p.R1138H missense 0.00022511●●●●●●
21. 3129493 c.2531G>T p.C844F missense 0.00003347●●●●●●
22. 3134736 c.2296A>C p.K766Q missense 0.00003313●●●●●●
23. 3135644 c.2110G>A p.E704K missense 0.00578246●●●●●●
24. 3142040 c.1922C>T p.P641L missense 0.00002498●●●●●●
25. 3151865 c.1670C>T p.S557L missense 0.00006634●●●●●●
26. 3168932 c.1222G>A p.D408N missense 0.00000878●●●●●●
27. 3188778 c.739G>A p.E247K missense 0.00467073●●●●●●
28. 3188927 c.590C>T p.T197M missense 0.00246032●●●●●●
29. 3189056 c.461C>T p.T154M missense 0.00059117●●●●●●
30. 3075736 c.4672T>C p.F1558L missense 0.00024706●●●●●●
31. 3079255 c.4570A>G p.N1524D missense 0.00000833●●●●●●
32. 3084008 c.4357A>T p.M1453L missense 0.00012608●●●●●●
33. 3086044 c.4243A>G p.I1415V missense 0.00002510●●●●●●
34. 3102508 c.3539A>G p.D1180G missense 0.00045634●●●●●●
35. 3112406 c.3308G>A p.R1103Q missense 0.00003471●●●●●●
36. 3119873 c.3112G>A p.V1038I missense 0.00002564●●●●●●
37. 3126815 c.2875A>G p.K959E missense 0.00000888●●●●●●
38. 3126842 c.2848A>G p.M950V missense 0.00004782●●●●●●
39. 3129334 c.2690G>A p.S897N missense 0.00000828●●●●●●
40. 3134724 c.2308G>A p.G770R missense 0.00003313●●●●●●
41. 3135616 c.2138G>A p.R713H missense 0.00006677●●●●●●
42. 3135692 c.2062A>T p.T688S missense 0.00270935●●●●●●
43. 3142010 c.1952G>A p.R651Q missense 0.00013282●●●●●●
44. 3149196 c.1847G>A p.R616H missense 0.00006653●●●●●●
45. 3151799 c.1736C>T p.S579F missense 0.00014910●●●●●●
46. 3164329 c.1448G>A p.R483H missense 0.00027463●●●●●●
47. 3173950 c.1160C>T p.T387I missense 0.00082141●●●●●●
48. 3188945 c.572C>T p.T191M missense 0.00062949●●●●●●
49. 3193816 c.431G>A p.R144H missense 0.00015825●●●●●●
50. 3067303 c.5015T>G p.M1672R missense 0.00000938●●●●●●
51. 3067357 c.4961C>T p.S1654L missense 0.00068860●●●●●●
52. 3067415 c.4903G>A p.G1635S missense 0.00042946●●●●●●
53. 3067444 c.4874C>A p.A1625D missense 0.00000827●●●●●●
54. 3067477 c.4841C>T p.A1614V missense 0.00000828●●●●●●
55. 3083820 c.4451A>G p.Y1484C missense 0.00003382●●●●●●
56. 3083888 c.4383G>T p.L1461F missense 0.00008445●●●●●●
57. 3090661 c.4004G>A p.G1335E missense 0.00001657●●●●●●
58. 3090784 c.3881T>C p.I1294T missense 0.00001657●●●●●●
59. 3094169 c.3863C>T p.P1288L missense 0.00006637●●●●●●
60. 3102475 c.3572A>G p.N1191S missense 0.00044840●●●●●●
61. 3102565 c.3482A>G p.D1161G missense 0.00000828●●●●●●
62. 3102568 c.3479G>A p.C1160Y missense 0.00001657●●●●●●
63. 3112302 c.3412C>T p.R1138C missense 0.00052500●●●●●●
64. 3112380 c.3334G>A p.V1112M missense 0.00000845●●●●●●
65. 3116341 c.3291C>A p.N1097K missense 0.00000996●●●●●●
66. 3116349 c.3283A>G p.I1095V missense 0.00001926●●●●●●
67. 3116474 c.3158A>G p.D1053G missense 0.00002609●●●●●●
68. 3119876 c.3109G>A p.A1037T missense 0.00007706●●●●●●
69. 3126784 c.2906A>G p.Y969C missense 0.00009311●●●●●●
70. 3129368 c.2656A>G p.S886G missense 0.00056307●●●●●●
71. 3129427 c.2597C>T p.P866L missense 0.00004969●●●●●●
72. 3134649 c.2383C>G p.R795G missense 0.00000850●●●●●●
73. 3135581 c.2173G>C p.E725Q missense 0.00000843●●●●●●
74. 3141939 c.2023A>G p.K675E missense 0.00035773●●●●●●
75. 3141984 c.1978C>G p.P660A missense 0.00107079●●●●●●
76. 3151722 c.1813C>G p.L605V missense 0.00022400●●●●●●
77. 3151802 c.1733G>T p.R578L missense 0.00009111●●●●●●
78. 3174171 c.1058C>T p.S353L missense 0.00006628●●●●●●
79. 3176070 c.992G>A p.R331Q missense 0.00035841●●●●●●
80. 3176092 c.970G>C p.G324R missense 0.00010032●●●●●●
81. 3176107 c.955G>A p.V319I missense 0.00012663●●●●●●
82. 3187487 c.920G>C p.R307P missense 0.00008285●●●●●●
83. 3188790 c.727G>C p.V243L missense 0.00008162●●●●●●
84. 3215083 c.139A>G p.S47G missense 0.00537607●●●●●●
85. 3215086 c.136T>C p.Y46H missense 0.00009297●●●●●●
86. 3215157 c.65T>G p.V22G missense 0.00013143●●●●●●
87. 3067396 c.4922C>T p.S1641L missense 0.00004128●●●●●●
88. 3067475 c.4843T>C p.S1615P missense 0.00000828●●●●●●
89. 3067490 c.4828G>C p.E1610Q missense 0.00001657●●●●●●
90. 3067504 c.4814C>T p.S1605L missense 0.00000830●●●●●●
91. 3067519 c.4799C>T p.P1600L missense 0.00006643●●●●●●
92. 3067532 c.4786G>A p.V1596M missense 0.00019958●●●●●●
93. 3071855 c.4741G>A p.V1581M missense 0.00004757●●●●●●
94. 3071885 c.4711C>T p.R1571C missense 0.00007796●●●●●●
95. 3079323 c.4502A>G p.Y1501C missense 0.00001674●●●●●●
96. 3083815 c.4456G>A p.E1486K missense 0.00003513●●●●●●
97. 3085112 c.4270G>A p.G1424R missense 0.00001388●●●●●●
98. 3086110 c.4177A>G p.K1393E missense 0.00008310●●●●●●
99. 3086139 c.4148T>C p.I1383T missense 0.00004199●●●●●●
100. 3090683 c.3982C>A p.H1328N missense 0.00002484●●●●●●
101. 3090751 c.3914T>C p.M1305T missense 0.00004969●●●●●●
102. 3090761 c.3904G>A p.E1302K missense 0.00015735●●●●●●
103. 3094250 c.3782G>A p.R1261Q missense 0.00001669●●●●●●
104. 3100369 c.3631G>A p.D1211N missense 0.00001673●●●●●●
105. 3102524 c.3523T>G p.Y1175D missense 0.00001657●●●●●●
106. 3102623 c.3424A>G p.K1142E missense 0.00002496●●●●●●
107. 3102628 c.3419G>A p.G1140E missense 0.00005833●●●●●●
108. 3112326 c.3388G>T p.A1130S missense 0.00005809●●●●●●
109. 3112343 c.3371G>C p.G1124A missense 0.00000830●●●●●●
110. 3112352 c.3362C>T p.A1121V missense 0.00003323●●●●●●
111. 3112359 c.3355A>C p.N1119H missense 0.00000834●●●●●●
112. 3112374 c.3340C>T p.R1114C missense 0.00003364●●●●●●
113. 3112389 c.3325G>A p.V1109I missense 0.00006810●●●●●●
114. 3116387 c.3245C>G p.A1082G missense 0.00000883●●●●●●
115. 3116409 c.3223G>A p.V1075M missense 0.00007767●●●●●●
116. 3119888 c.3097G>A p.E1033K missense 0.00004326●●●●●●
117. 3119915 c.3070G>A p.A1024T missense 0.00003890●●●●●●
118. 3119938 c.3047T>C p.M1016T missense 0.00001110●●●●●●
119. 3129472 c.2552C>T p.P851L missense 0.00004977●●●●●●
120. 3131432 c.2447C>T p.A816V missense 0.00000833●●●●●●
121. 3134682 c.2350G>A p.E784K missense 0.00054791●●●●●●
122. 3134703 c.2329G>A p.V777I missense 0.00006630●●●●●●
123. 3134714 c.2318T>C p.I773T missense 0.00000828●●●●●●
124. 3134738 c.2294C>G p.A765G missense 0.00000828●●●●●●
125. 3134759 c.2273C>T p.S758L missense 0.00004141●●●●●●
126. 3135569 c.2185G>A p.V729M missense 0.00001706●●●●●●
127. 3135577 c.2177C>G p.A726G missense 0.00000845●●●●●●
128. 3135617 c.2137C>T p.R713C missense 0.00011680●●●●●●
129. 3135623 c.2131C>T p.R711C missense 0.00004165●●●●●●
130. 3135700 c.2054G>A p.R685Q missense 0.00003327●●●●●●
131. 3141959 c.2003G>A p.G668D missense 0.00024102●●●●●●
132. 3141971 c.1991G>A p.R664H missense 0.00007475●●●●●●
133. 3151809 c.1726G>A p.E576K missense 0.00001657●●●●●●
134. 3151821 c.1714A>G p.T572A missense 0.00001657●●●●●●
135. 3154961 c.1627G>A p.G543R missense 0.00007556●●●●●●
136. 3154976 c.1612G>A p.G538R missense 0.00004077●●●●●●
137. 3154982 c.1606G>A p.D536N missense 0.00016015●●●●●●
138. 3155020 c.1568A>G p.K523R missense 0.00002775●●●●●●
139. 3164311 c.1466A>G p.Y489C missense 0.00010732●●●●●●
140. 3164323 c.1454G>A p.R485Q missense 0.00002938●●●●●●
141. 3164333 c.1444A>G p.I482V missense 0.00000983●●●●●●
142. 3164386 c.1391G>A p.R464Q missense 0.00006673●●●●●●
143. 3164419 c.1358C>T p.S453L missense 0.00003861●●●●●●
144. 3164434 c.1343T>G p.V448G missense 0.00017689●●●●●●
145. 3168875 c.1279C>T p.R427C missense 0.00000836●●●●●●
146. 3168924 c.1230A>C p.K410N missense 0.00000866●●●●●●
147. 3168950 c.1204C>T p.R402W missense 0.00011100●●●●●●
148. 3173963 c.1147G>A p.A383T missense 0.00000829●●●●●●
149. 3173972 c.1138C>T p.R380C missense 0.00010775●●●●●●
150. 3174177 c.1052G>A p.R351Q missense 0.00006630●●●●●●
151. 3174178 c.1051C>T p.R351W missense 0.00009116●●●●●●
152. 3187488 c.919C>T p.R307C missense 0.00004142●●●●●●
153. 3188891 c.626C>T p.T209M missense 0.00004969●●●●●●
154. 3188906 c.611C>A p.A204E missense 0.00002484●●●●●●
155. 3188930 c.587C>T p.S196F missense 0.00000828●●●●●●
156. 3188951 c.566A>T p.Q189L missense 0.00003312●●●●●●
157. 3215023 c.199T>G p.S67A missense 0.00003397●●●●●●
158. 3215059 c.163C>A p.R55S missense 0.00000847●●●●●●
159. 3215097 c.125G>T p.G42V missense 0.00004216●●●●●●
160. 3215104 c.118A>G p.T40A missense 0.00000845●●●●●●
161. 3215112 c.110C>T p.A37V missense 0.00014359●●●●●●
162. 3215154 c.68G>A p.R23H missense 0.00001746●●●●●●
163. 3086106 c.4181A>G p.D1394G missense 0.00004153●●●●●●
164. 3067309 c.5009C>A p.A1670E missense 0.00016492●●●●●●
165. 3079314 c.4511G>A p.R1504K missense 0.00034166●●●●●●
166. 3079316 c.4509C>A p.D1503E missense 0.00000834●●●●●●
167. 3094236 c.3796G>A p.A1266T missense 0.00001661●●●●●●
168. 3102577 c.3470A>T p.N1157I missense 0.00000828●●●●●●
169. 3116373 c.3259T>C p.W1087R missense 0.00000897●●●●●●
170. 3119947 c.3038C>T p.A1013V missense 0.00411826●●●●●●
171. 3119975 c.3010A>G p.N1004D missense 0.00019856●●●●●●
172. 3126839 c.2851G>T p.V951F missense 0.00008492●●●●●●
173. 3126872 c.2818A>G p.I940V missense 0.00002198●●●●●●
174. 3129295 c.2729C>T p.P910L missense 0.00021566●●●●●●
175. 3134811 c.2221G>C p.A741P missense 0.00051363●●●●●●
176. 3135622 c.2132G>A p.R711H missense 0.00009165●●●●●●
177. 3135685 c.2069T>C p.L690P missense 0.00000831●●●●●●
178. 3155065 c.1523G>A p.G508E missense 0.00001900●●●●●●
179. 3164380 c.1397C>T p.T466M missense 0.00023850●●●●●●
180. 3164387 c.1390C>T p.R464W missense 0.00011186●●●●●●
181. 3168820 c.1334G>T p.R445I missense 0.00013288●●●●●●
182. 3168968 c.1186C>T p.P396S missense 0.00010134●●●●●●
183. 3176067 c.995A>G p.Y332C missense 0.00013334●●●●●●
184. 3176103 c.959A>G p.H320R missense 0.00001681●●●●●●
185. 3188900 c.617A>G p.K206R missense 0.00004142●●●●●●
186. 3188979 c.538A>G p.T180A missense 0.00005796●●●●●●
187. 3214932 c.290G>T p.G97V missense 0.00213277●●●●●●
188. 3215019 c.203C>A p.S68Y missense 0.00000849●●●●●●
189. 3215162 c.60G>C p.K20N missense 0.00000898●●●●●●
190. 3067277 c.5041G>C p.G1681R missense 0.00001718●●●●●●
191. 3067280 c.5038G>C p.G1680R missense 0.00003106●●●●●●
192. 3067298 c.5020G>A p.A1674T missense 0.00000972●●●●●●
193. 3067331 c.4987G>A p.V1663M missense 0.00000862●●●●●●
194. 3067337 c.4981G>A p.V1661I missense 0.00002554●●●●●●
195. 3067346 c.4972G>A p.D1658N missense 0.00000843●●●●●●
196. 3067351 c.4967C>T p.T1656I missense 0.00000837●●●●●●
197. 3067354 c.4964A>G p.E1655G missense 0.00000835●●●●●●
198. 3067360 c.4958G>C p.G1653A missense 0.00000828●●●●●●
199. 3067384 c.4934G>T p.G1645V missense 0.00000826●●●●●●
200. 3067385 c.4933G>A p.G1645R missense 0.00001652●●●●●●
201. 3067400 c.4918G>T p.D1640Y missense 0.00000826●●●●●●
202. 3067405 c.4913C>T p.T1638I missense 0.00001652●●●●●●
203. 3067408 c.4910G>T p.S1637I missense 0.00000826●●●●●●
204. 3067409 c.4909A>T p.S1637C missense 0.00002478●●●●●●
205. 3067412 c.4906G>A p.V1636M missense 0.00000826●●●●●●
206. 3067414 c.4904G>T p.G1635V missense 0.00000826●●●●●●
207. 3067415 c.4903G>T p.G1635C missense 0.00000826●●●●●●
208. 3067433 c.4885G>A p.A1629T missense 0.00001653●●●●●●
209. 3067438 c.4880G>A p.R1627K missense 0.00000827●●●●●●
210. 3067448 c.4870G>A p.E1624K missense 0.00001654●●●●●●
211. 3067470 c.4848C>G p.D1616E missense 0.00000828●●●●●●
212. 3067490 c.4828G>A p.E1610K missense 0.00004142●●●●●●
213. 3067501 c.4817G>T p.W1606L missense 0.00002488●●●●●●
214. 3067508 c.4810G>A p.V1604M missense 0.00000830●●●●●●
215. 3067517 c.4801C>T p.P1601S missense 0.00003321●●●●●●
216. 3067526 c.4792G>A p.G1598R missense 0.00020773●●●●●●
217. 3067532 c.4786G>C p.V1596L missense 0.00000832●●●●●●
218. 3067540 c.4778C>T p.T1593I missense 0.00000833●●●●●●
219. 3071846 c.4750A>G p.I1584V missense 0.00001642●●●●●●
220. 3071882 c.4714G>T p.A1572S missense 0.00001552●●●●●●
221. 3075473 c.4687C>G p.Q1563E missense 0.00000830●●●●●●
222. 3075750 c.4658A>G p.E1553G missense 0.00001661●●●●●●
223. 3075754 c.4654G>A p.D1552N missense 0.00001769●●●●●●
224. 3075759 c.4649C>G p.A1550G missense 0.00001941●●●●●●
225. 3079192 c.4633G>C p.D1545H missense 0.00000847●●●●●●
226. 3079203 c.4622A>G p.Q1541R missense 0.00000840●●●●●●
227. 3079206 c.4619A>G p.H1540R missense 0.00001678●●●●●●
228. 3079222 c.4603G>A p.D1535N missense 0.00000836●●●●●●
229. 3079227 c.4598T>C p.L1533P missense 0.00000835●●●●●●
230. 3079234 c.4591A>G p.M1531V missense 0.00000834●●●●●●
231. 3079254 c.4571A>G p.N1524S missense 0.00000833●●●●●●
232. 3079257 c.4568C>T p.P1523L missense 0.00004164●●●●●●
233. 3079258 c.4567C>G p.P1523A missense 0.00000833●●●●●●
234. 3079260 c.4565C>A p.T1522N missense 0.00000832●●●●●●
235. 3079268 c.4557C>G p.N1519K missense 0.00001664●●●●●●
236. 3079302 c.4523G>C p.G1508A missense 0.00000832●●●●●●
237. 3079303 c.4522G>A p.G1508R missense 0.00001665●●●●●●
238. 3079333 c.4492G>A p.A1498T missense 0.00001688●●●●●●
239. 3079335 c.4490C>T p.S1497F missense 0.00000848●●●●●●
240. 3083814 c.4457A>T p.E1486V missense 0.00003523●●●●●●
241. 3083818 c.4453G>A p.V1485M missense 0.00003431●●●●●●
242. 3083823 c.4448A>T p.Y1483F missense 0.00003320●●●●●●
243. 3083850 c.4421G>A p.G1474D missense 0.00002966●●●●●●
244. 3083854 c.4417G>A p.E1473K missense 0.00017623●●●●●●
245. 3083881 c.4390A>C p.T1464P missense 0.00002809●●●●●●
246. 3083989 c.4376T>A p.I1459K missense 0.00047114●●●●●●
247. 3083996 c.4369A>C p.K1457Q missense 0.00002456●●●●●●
248. 3085081 c.4301G>A p.R1434Q missense 0.00002747●●●●●●
249. 3085100 c.4282G>T p.V1428F missense 0.00001363●●●●●●
250. 3085111 c.4271G>A p.G1424E missense 0.00004144●●●●●●
251. 3085129 c.4253T>G p.F1418C missense 0.00001450●●●●●●
252. 3086078 c.4209G>C p.K1403N missense 0.00000830●●●●●●
253. 3086080 c.4207A>C p.K1403Q missense 0.00000830●●●●●●
254. 3086119 c.4168G>A p.V1390M missense 0.00000833●●●●●●
255. 3086121 c.4166T>A p.I1389N missense 0.00000833●●●●●●
256. 3086122 c.4165A>G p.I1389V missense 0.00001666●●●●●●
257. 3086124 c.4163A>T p.H1388L missense 0.00000833●●●●●●
258. 3086136 c.4151A>G p.K1384R missense 0.00001676●●●●●●
259. 3089172 c.4137G>T p.K1379N missense 0.00000843●●●●●●
260. 3089188 c.4121T>C p.V1374A missense 0.00000835●●●●●●
261. 3089189 c.4120G>A p.V1374I missense 0.00010020●●●●●●
262. 3089194 c.4115G>A p.C1372Y missense 0.00000834●●●●●●
263. 3089195 c.4114T>G p.C1372G missense 0.00000834●●●●●●
264. 3089215 c.4094G>A p.S1365N missense 0.00000834●●●●●●
265. 3089225 c.4084G>A p.E1362K missense 0.00000835●●●●●●
266. 3089230 c.4079T>C p.F1360S missense 0.00000836●●●●●●
267. 3089535 c.4069G>A p.G1357S missense 0.00000862●●●●●●
268. 3089559 c.4045C>T p.R1349W missense 0.00007809●●●●●●
269. 3090659 c.4006G>T p.D1336Y missense 0.00000828●●●●●●
270. 3090665 c.4000G>T p.V1334F missense 0.00000828●●●●●●
271. 3090665 c.4000G>A p.V1334I missense 0.00001657●●●●●●
272. 3090679 c.3986C>A p.S1329Y missense 0.00000828●●●●●●
273. 3090680 c.3985T>C p.S1329P missense 0.00000828●●●●●●
274. 3090698 c.3967G>A p.G1323R missense 0.00000828●●●●●●
275. 3090712 c.3953T>C p.F1318S missense 0.00000828●●●●●●
276. 3090721 c.3944C>T p.T1315M missense 0.00001656●●●●●●
277. 3090721 c.3944C>G p.T1315R missense 0.00000828●●●●●●
278. 3090743 c.3922C>A p.L1308I missense 0.00000828●●●●●●
279. 3090752 c.3913A>G p.M1305V missense 0.00000828●●●●●●
280. 3090778 c.3887G>A p.R1296Q missense 0.00000828●●●●●●
281. 3094199 c.3833T>C p.I1278T missense 0.00000829●●●●●●
282. 3094211 c.3821A>G p.K1274R missense 0.00000829●●●●●●
283. 3094212 c.3820A>G p.K1274E missense 0.00001659●●●●●●
284. 3094217 c.3815A>C p.N1272T missense 0.00000829●●●●●●
285. 3094217 c.3815A>G p.N1272S missense 0.00001659●●●●●●
286. 3094236 c.3796G>T p.A1266S missense 0.00000831●●●●●●
287. 3094251 c.3781C>T p.R1261W missense 0.00001669●●●●●●
288. 3094254 c.3778G>T p.V1260F missense 0.00003346●●●●●●
289. 3094260 c.3772G>A p.G1258S missense 0.00003357●●●●●●
290. 3094271 c.3761T>G p.I1254S missense 0.00000848●●●●●●
291. 3094277 c.3755T>G p.V1252G missense 0.00000856●●●●●●
292. 3094278 c.3754G>T p.V1252F missense 0.00000861●●●●●●
293. 3094284 c.3748T>A p.L1250M missense 0.00002612●●●●●●
294. 3100163 c.3721T>C p.F1241L missense 0.00000828●●●●●●
295. 3100167 c.3717C>A p.H1239Q missense 0.00000828●●●●●●
296. 3100192 c.3692G>C p.R1231P missense 0.00000828●●●●●●
297. 3100192 c.3692G>A p.R1231H missense 0.00004969●●●●●●
298. 3100193 c.3691C>T p.R1231C missense 0.00003312●●●●●●
299. 3100330 c.3670A>G p.I1224V missense 0.00000837●●●●●●
300. 3100335 c.3665A>G p.Y1222C missense 0.00008366●●●●●●
301. 3100347 c.3653T>C p.I1218T missense 0.00000836●●●●●●
302. 3100356 c.3644C>T p.T1215I missense 0.00000836●●●●●●
303. 3100368 c.3632A>C p.D1211A missense 0.00001673●●●●●●
304. 3100413 c.3587C>G p.T1196S missense 0.00000859●●●●●●
305. 3100422 c.3578C>T p.T1193M missense 0.00008789●●●●●●
306. 3102478 c.3569G>A p.G1190D missense 0.00001688●●●●●●
307. 3102488 c.3559G>A p.E1187K missense 0.00004184●●●●●●
308. 3102508 c.3539A>C p.D1180A missense 0.00006638●●●●●●
309. 3102551 c.3496A>G p.K1166E missense 0.00000828●●●●●●
310. 3102572 c.3475G>A p.E1159K missense 0.00000828●●●●●●
311. 3102601 c.3446A>G p.D1149G missense 0.00001658●●●●●●
312. 3112301 c.3413G>T p.R1138L missense 0.00000834●●●●●●
313. 3112320 c.3394C>T p.P1132S missense 0.00000830●●●●●●
314. 3112322 c.3392G>A p.G1131D missense 0.00000830●●●●●●
315. 3112346 c.3368T>C p.V1123A missense 0.00002490●●●●●●
316. 3112367 c.3347G>A p.R1116Q missense 0.00001675●●●●●●
317. 3112373 c.3341G>A p.R1114H missense 0.00005041●●●●●●
318. 3112373 c.3341G>T p.R1114L missense 0.00000840●●●●●●
319. 3112383 c.3331T>A p.Y1111N missense 0.00000846●●●●●●
320. 3112384 c.3330C>G p.S1110R missense 0.00022018●●●●●●
321. 3112397 c.3317A>T p.K1106M missense 0.00000859●●●●●●
322. 3112406 c.3308G>C p.R1103P missense 0.00000868●●●●●●
323. 3116337 c.3295T>C p.Y1099H missense 0.00001012●●●●●●
324. 3116340 c.3292G>A p.V1098I missense 0.00001002●●●●●●
325. 3116341 c.3291C>G p.N1097K missense 0.00001992●●●●●●
326. 3116352 c.3280G>C p.A1094P missense 0.00006671●●●●●●
327. 3116354 c.3278C>T p.A1093V missense 0.00003778●●●●●●
328. 3116360 c.3272A>G p.N1091S missense 0.00000923●●●●●●
329. 3116403 c.3229T>A p.L1077M missense 0.00000868●●●●●●
330. 3116426 c.3206C>T p.P1069L missense 0.00003404●●●●●●
331. 3116432 c.3200G>A p.R1067Q missense 0.00002548●●●●●●
332. 3116433 c.3199C>T p.R1067W missense 0.00001698●●●●●●
333. 3116436 c.3196G>A p.G1066R missense 0.00008482●●●●●●
334. 3116442 c.3190C>T p.H1064Y missense 0.00000869●●●●●●
335. 3116445 c.3187G>A p.V1063I missense 0.00000875●●●●●●
336. 3116474 c.3158A>C p.D1053A missense 0.00002609●●●●●●
337. 3116479 c.3153G>C p.R1051S missense 0.00000872●●●●●●
338. 3116484 c.3148G>C p.V1050L missense 0.00001751●●●●●●
339. 3116507 c.3125C>T p.P1042L missense 0.00003576●●●●●●
340. 3119867 c.3118G>A p.G1040R missense 0.00000851●●●●●●
341. 3119906 c.3079G>A p.E1027K missense 0.00000919●●●●●●
342. 3119915 c.3070G>T p.A1024S missense 0.00001945●●●●●●
343. 3119923 c.3062C>T p.A1021V missense 0.00004086●●●●●●
344. 3119924 c.3061G>A p.A1021T missense 0.00004118●●●●●●
345. 3119929 c.3056T>C p.L1019P missense 0.00001060●●●●●●
346. 3119951 c.3034G>T p.A1012S missense 0.00001223●●●●●●
347. 3119954 c.3031G>A p.V1011M missense 0.00001244●●●●●●
348. 3119971 c.3014T>A p.M1005K missense 0.00001379●●●●●●
349. 3126712 c.2978A>G p.E993G missense 0.00000858●●●●●●
350. 3126713 c.2977G>A p.E993K missense 0.00000857●●●●●●
351. 3126715 c.2975G>T p.S992I missense 0.00002563●●●●●●
352. 3126725 c.2965A>C p.K989Q missense 0.00000845●●●●●●
353. 3126745 c.2945A>G p.K982R missense 0.00000838●●●●●●
354. 3126755 c.2935G>A p.V979I missense 0.00002513●●●●●●
355. 3126770 c.2920G>A p.E974K missense 0.00006730●●●●●●
356. 3126772 c.2918G>A p.R973H missense 0.00004208●●●●●●
357. 3126773 c.2917C>T p.R973C missense 0.00001683●●●●●●
358. 3126778 c.2912A>C p.N971T missense 0.00000843●●●●●●
359. 3126787 c.2903A>C p.Y968S missense 0.00002539●●●●●●
360. 3126802 c.2888C>T p.A963V missense 0.00000855●●●●●●
361. 3126803 c.2887G>A p.A963T missense 0.00000857●●●●●●
362. 3126813 c.2877G>C p.K959N missense 0.00000884●●●●●●
363. 3126833 c.2857G>A p.G953R missense 0.00000922●●●●●●
364. 3126850 c.2840G>A p.R947H missense 0.00000985●●●●●●
365. 3126851 c.2839C>T p.R947C missense 0.00000988●●●●●●
366. 3126854 c.2836T>C p.F946L missense 0.00001001●●●●●●
367. 3126865 c.2825G>A p.C942Y missense 0.00001063●●●●●●
368. 3126871 c.2819T>A p.I940N missense 0.00001088●●●●●●
369. 3129280 c.2744C>G p.A915G missense 0.00000829●●●●●●
370. 3129289 c.2735A>G p.Q912R missense 0.00000828●●●●●●
371. 3129296 c.2728C>G p.P910A missense 0.00004146●●●●●●
372. 3129296 c.2728C>T p.P910S missense 0.00000829●●●●●●
373. 3129298 c.2726C>T p.P909L missense 0.00000828●●●●●●
374. 3129301 c.2723C>T p.T908I missense 0.00000828●●●●●●
375. 3129307 c.2717A>C p.E906A missense 0.00014908●●●●●●
376. 3129307 c.2717A>G p.E906G missense 0.00003313●●●●●●
377. 3129322 c.2702A>G p.E901G missense 0.00000828●●●●●●
378. 3129338 c.2686G>T p.V896L missense 0.00000828●●●●●●
379. 3129340 c.2684A>T p.E895V missense 0.00000828●●●●●●
380. 3129365 c.2659A>T p.S887C missense 0.00000828●●●●●●
381. 3129402 c.2622G>C p.L874F missense 0.00000828●●●●●●
382. 3129415 c.2609A>G p.Q870R missense 0.00000828●●●●●●
383. 3129442 c.2582T>G p.V861G missense 0.00000828●●●●●●
384. 3129443 c.2581G>A p.V861M missense 0.00004142●●●●●●
385. 3129445 c.2579G>A p.R860H missense 0.00000828●●●●●●
386. 3129448 c.2576G>A p.G859E missense 0.00000828●●●●●●
387. 3129449 c.2575G>T p.G859W missense 0.00000828●●●●●●
388. 3129488 c.2536G>A p.A846T missense 0.00000834●●●●●●
389. 3129509 c.2515G>T p.V839L missense 0.00000851●●●●●●
390. 3129512 c.2512G>A p.G838R missense 0.00000853●●●●●●
391. 3129517 c.2507G>T p.G836V missense 0.00001717●●●●●●
392. 3131391 c.2488G>A p.E830K missense 0.00000830●●●●●●
393. 3131406 c.2473G>A p.D825N missense 0.00000831●●●●●●
394. 3131419 c.2460T>A p.S820R missense 0.00000832●●●●●●
395. 3131434 c.2445T>A p.N815K missense 0.00000834●●●●●●
396. 3131435 c.2444A>G p.N815S missense 0.00003336●●●●●●
397. 3131450 c.2429G>A p.R810Q missense 0.00004186●●●●●●
398. 3131466 c.2413C>A p.Q805K missense 0.00001689●●●●●●
399. 3131489 c.2390C>T p.T797I missense 0.00000875●●●●●●
400. 3134663 c.2369C>T p.P790L missense 0.00001672●●●●●●
401. 3134665 c.2367C>G p.N789K missense 0.00000835●●●●●●
402. 3134691 c.2341G>C p.G781R missense 0.00000829●●●●●●
403. 3134699 c.2333C>T p.A778V missense 0.00000829●●●●●●
404. 3134708 c.2324C>T p.A775V missense 0.00000829●●●●●●
405. 3134708 c.2324C>A p.A775E missense 0.00001657●●●●●●
406. 3134713 c.2319A>G p.I773M missense 0.00000828●●●●●●
407. 3134723 c.2309G>A p.G770E missense 0.00000828●●●●●●
408. 3134742 c.2290G>A p.D764N missense 0.00000828●●●●●●
409. 3134754 c.2278G>A p.E760K missense 0.00000828●●●●●●
410. 3134762 c.2270T>C p.V757A missense 0.00004141●●●●●●
411. 3134771 c.2261C>T p.S754L missense 0.00000828●●●●●●
412. 3134796 c.2236A>C p.I746L missense 0.00000828●●●●●●
413. 3134817 c.2215C>G p.P739A missense 0.00000829●●●●●●
414. 3134817 c.2215C>T p.P739S missense 0.00002487●●●●●●
415. 3134822 c.2210A>T p.D737V missense 0.00000829●●●●●●
416. 3135552 c.2202C>A p.D734E missense 0.00000884●●●●●●
417. 3135574 c.2180C>T p.T727M missense 0.00005085●●●●●●
418. 3135593 c.2161G>A p.G721S missense 0.00007553●●●●●●
419. 3135613 c.2141G>C p.C714S missense 0.00002506●●●●●●
420. 3135622 c.2132G>C p.R711P missense 0.00000833●●●●●●
421. 3135625 c.2129T>G p.F710C missense 0.00000832●●●●●●
422. 3135626 c.2128T>C p.F710L missense 0.00001664●●●●●●
423. 3135631 c.2123A>G p.Y708C missense 0.00000832●●●●●●
424. 3135637 c.2117A>T p.K706I missense 0.00000831●●●●●●
425. 3135641 c.2113G>A p.G705R missense 0.00000831●●●●●●
426. 3135667 c.2087G>A p.R696H missense 0.00015771●●●●●●
427. 3135667 c.2087G>T p.R696L missense 0.00001660●●●●●●
428. 3135668 c.2086C>T p.R696C missense 0.00000830●●●●●●
429. 3135674 c.2080T>C p.S694P missense 0.00000830●●●●●●
430. 3135685 c.2069T>A p.L690H missense 0.00002492●●●●●●
431. 3135691 c.2063C>T p.T688M missense 0.00000831●●●●●●
432. 3135725 c.2029G>A p.E677K missense 0.00000836●●●●●●
433. 3141945 c.2017G>A p.V673M missense 0.00001663●●●●●●
434. 3141959 c.2003G>T p.G668V missense 0.00000831●●●●●●
435. 3141984 c.1978C>T p.P660S missense 0.00004150●●●●●●
436. 3141995 c.1967T>C p.L656P missense 0.00002490●●●●●●
437. 3142007 c.1955G>A p.S652N missense 0.00009961●●●●●●
438. 3142028 c.1934C>G p.S645C missense 0.00000831●●●●●●
439. 3142029 c.1933T>A p.S645T missense 0.00001662●●●●●●
440. 3142034 c.1928A>G p.D643G missense 0.00000832●●●●●●
441. 3142043 c.1919C>T p.P640L missense 0.00000833●●●●●●
442. 3142050 c.1912C>T p.P638S missense 0.00000834●●●●●●
443. 3142056 c.1906A>G p.I636V missense 0.00000835●●●●●●
444. 3142058 c.1904G>T p.G635V missense 0.00004177●●●●●●
445. 3149157 c.1886A>G p.E629G missense 0.00000829●●●●●●
446. 3149171 c.1872G>C p.Q624H missense 0.00000829●●●●●●
447. 3149172 c.1871A>G p.Q624R missense 0.00001658●●●●●●
448. 3149185 c.1858C>T p.P620S missense 0.00000830●●●●●●
449. 3149194 c.1849C>G p.P617A missense 0.00001662●●●●●●
450. 3149196 c.1847G>T p.R616L missense 0.00000832●●●●●●
451. 3149197 c.1846C>G p.R616G missense 0.00000832●●●●●●
452. 3151698 c.1837C>T p.L613F missense 0.00000841●●●●●●
453. 3151712 c.1823C>G p.A608G missense 0.00000832●●●●●●
454. 3151715 c.1820C>T p.P607L missense 0.00000831●●●●●●
455. 3151737 c.1798G>A p.E600K missense 0.00002486●●●●●●
456. 3151751 c.1784C>T p.P595L missense 0.00000828●●●●●●
457. 3151766 c.1769T>C p.M590T missense 0.00000828●●●●●●
458. 3151778 c.1757C>T p.A586V missense 0.00000828●●●●●●
459. 3151781 c.1754G>C p.R585P missense 0.00000828●●●●●●
460. 3151784 c.1751T>C p.V584A missense 0.00000828●●●●●●
461. 3151787 c.1748G>C p.R583P missense 0.00002485●●●●●●
462. 3151802 c.1733G>A p.R578H missense 0.00014909●●●●●●
463. 3151803 c.1732C>T p.R578C missense 0.00000828●●●●●●
464. 3151808 c.1727A>T p.E576V missense 0.00000828●●●●●●
465. 3151832 c.1703G>A p.R568H missense 0.00002485●●●●●●
466. 3151837 c.1698T>G p.F566L missense 0.00002486●●●●●●
467. 3151856 c.1679A>G p.N560S missense 0.00000829●●●●●●
468. 3151862 c.1673A>G p.Q558R missense 0.00000829●●●●●●
469. 3151878 c.1657A>G p.T553A missense 0.00000830●●●●●●
470. 3154951 c.1637T>C p.I546T missense 0.00002248●●●●●●
471. 3154952 c.1636A>G p.I546V missense 0.00001121●●●●●●
472. 3154988 c.1600G>T p.A534S missense 0.00000977●●●●●●
473. 3155006 c.1582A>G p.I528V missense 0.00000942●●●●●●
474. 3155009 c.1579A>G p.I527V missense 0.00000937●●●●●●
475. 3155014 c.1574A>G p.Y525C missense 0.00000932●●●●●●
476. 3155042 c.1546G>T p.V516L missense 0.00000922●●●●●●
477. 3155042 c.1546G>A p.V516M missense 0.00000922●●●●●●
478. 3155063 c.1525G>A p.A509T missense 0.00000951●●●●●●
479. 3155074 c.1514A>C p.E505A missense 0.00000964●●●●●●
480. 3164276 c.1501G>A p.D501N missense 0.00005144●●●●●●
481. 3164278 c.1499G>A p.R500Q missense 0.00001023●●●●●●
482. 3164294 c.1483G>T p.A495S missense 0.00000986●●●●●●
483. 3164317 c.1460G>C p.G487A missense 0.00000978●●●●●●
484. 3164323 c.1454G>T p.R485L missense 0.00002938●●●●●●
485. 3164324 c.1453C>T p.R485W missense 0.00002936●●●●●●
486. 3164330 c.1447C>T p.R483C missense 0.00000984●●●●●●
487. 3164332 c.1445T>C p.I482T missense 0.00000982●●●●●●
488. 3164339 c.1438T>C p.Y480H missense 0.00003960●●●●●●
489. 3164381 c.1396A>C p.T466P missense 0.00001037●●●●●●
490. 3164399 c.1378T>C p.W460R missense 0.00001162●●●●●●
491. 3164407 c.1370A>G p.Q457R missense 0.00002389●●●●●●
492. 3168815 c.1339G>A p.G447R missense 0.00000832●●●●●●
493. 3168830 c.1324C>G p.Q442E missense 0.00000830●●●●●●
494. 3168832 c.1322T>C p.I441T missense 0.00000830●●●●●●
495. 3168866 c.1288A>G p.I430V missense 0.00001666●●●●●●
496. 3168874 c.1280G>A p.R427H missense 0.00002504●●●●●●
497. 3168890 c.1264A>G p.M422V missense 0.00004200●●●●●●
498. 3168895 c.1259A>G p.E420G missense 0.00003379●●●●●●
499. 3168896 c.1258G>A p.E420K missense 0.00004224●●●●●●
500. 3168919 c.1235A>G p.D412G missense 0.00000862●●●●●●
501. 3168922 c.1232T>C p.F411S missense 0.00002590●●●●●●
502. 3168949 c.1205G>A p.R402Q missense 0.00000921●●●●●●
503. 3168952 c.1202C>A p.S401Y missense 0.00000930●●●●●●
504. 3168961 c.1193G>T p.G398V missense 0.00000970●●●●●●
505. 3168964 c.1190A>G p.Y397C missense 0.00000988●●●●●●
506. 3173942 c.1168C>T p.L390F missense 0.00003322●●●●●●
507. 3173957 c.1153G>T p.A385S missense 0.00001659●●●●●●
508. 3173965 c.1145A>G p.H382R missense 0.00001658●●●●●●
509. 3173971 c.1139G>C p.R380P missense 0.00000829●●●●●●
510. 3173987 c.1123G>A p.E375K missense 0.00000829●●●●●●
511. 3173993 c.1117A>G p.K373E missense 0.00000829●●●●●●
512. 3174118 c.1111A>G p.R371G missense 0.00002484●●●●●●
513. 3174119 c.1110A>C p.K370N missense 0.00000828●●●●●●
514. 3174133 c.1096T>G p.S366A missense 0.00003312●●●●●●
515. 3174142 c.1087G>C p.A363P missense 0.00000828●●●●●●
516. 3174144 c.1085C>T p.S362L missense 0.00000828●●●●●●
517. 3174151 c.1078G>A p.E360K missense 0.00000828●●●●●●
518. 3174162 c.1067A>G p.N356S missense 0.00004141●●●●●●
519. 3174180 c.1049A>C p.Y350S missense 0.00000829●●●●●●
520. 3174193 c.1036G>A p.D346N missense 0.00000829●●●●●●
521. 3174198 c.1031T>A p.F344Y missense 0.00000830●●●●●●
522. 3174202 c.1027G>A p.D343N missense 0.00000830●●●●●●
523. 3176040 c.1022G>T p.G341V missense 0.00000839●●●●●●
524. 3176053 c.1009C>G p.L337V missense 0.00003329●●●●●●
525. 3176070 c.992G>T p.R331L missense 0.00000834●●●●●●
526. 3176077 c.985G>A p.E329K missense 0.00000834●●●●●●
527. 3176079 c.983T>C p.I328T missense 0.00000834●●●●●●
528. 3176085 c.977A>G p.Y326C missense 0.00000834●●●●●●
529. 3176094 c.968C>G p.P323R missense 0.00000837●●●●●●
530. 3176096 c.966C>A p.N322K missense 0.00000837●●●●●●
531. 3176111 c.951A>G p.I317M missense 0.00000847●●●●●●
532. 3187481 c.926C>T p.T309M missense 0.00003315●●●●●●
533. 3187500 c.907T>G p.W303G missense 0.00005798●●●●●●
534. 3187508 c.899T>C p.I300T missense 0.00000828●●●●●●
535. 3187519 c.888G>C p.L296F missense 0.00000828●●●●●●
536. 3187532 c.875A>G p.E292G missense 0.00000828●●●●●●
537. 3187547 c.860C>T p.T287M missense 0.00004969●●●●●●
538. 3187556 c.851G>A p.R284H missense 0.00003313●●●●●●
539. 3187586 c.821T>A p.L274H missense 0.00001659●●●●●●
540. 3187586 c.821T>C p.L274P missense 0.00000829●●●●●●
541. 3187595 c.812A>G p.D271G missense 0.00000831●●●●●●
542. 3187599 c.808G>A p.E270K missense 0.00004164●●●●●●
543. 3187623 c.784G>A p.E262K missense 0.00000879●●●●●●
544. 3187631 c.776A>G p.E259G missense 0.00001847●●●●●●
545. 3188789 c.728T>C p.V243A missense 0.00000910●●●●●●
546. 3188803 c.714G>T p.K238N missense 0.00000858●●●●●●
547. 3188820 c.697G>A p.E233K missense 0.00000834●●●●●●
548. 3188832 c.685G>A p.A229T missense 0.00004152●●●●●●
549. 3188868 c.649T>G p.S217A missense 0.00000830●●●●●●
550. 3188906 c.611C>T p.A204V missense 0.00000828●●●●●●
551. 3188907 c.610G>A p.A204T missense 0.00000828●●●●●●
552. 3188925 c.592G>A p.A198T missense 0.00000828●●●●●●
553. 3188948 c.569C>T p.T190I missense 0.00000828●●●●●●
554. 3188963 c.554C>T p.T185M missense 0.00002484●●●●●●
555. 3188997 c.520A>G p.S174G missense 0.00000828●●●●●●
556. 3189007 c.510T>A p.N170K missense 0.00000828●●●●●●
557. 3189020 c.497T>C p.I166T missense 0.00006625●●●●●●
558. 3189021 c.496A>G p.I166V missense 0.00001656●●●●●●
559. 3189023 c.494A>G p.Y165C missense 0.00000828●●●●●●
560. 3189044 c.473G>C p.R158T missense 0.00000830●●●●●●
561. 3189049 c.468A>T p.E156D missense 0.00000831●●●●●●
562. 3189057 c.460A>G p.T154A missense 0.00000833●●●●●●
563. 3189078 c.439C>G p.H147D missense 0.00000844●●●●●●
564. 3189081 c.436A>C p.K146Q missense 0.00000845●●●●●●
565. 3193817 c.430C>T p.R144C missense 0.00003329●●●●●●
566. 3193832 c.415C>T p.P139S missense 0.00000830●●●●●●
567. 3193835 c.412G>A p.V138I missense 0.00001661●●●●●●
568. 3193838 c.409A>C p.M137L missense 0.00000830●●●●●●
569. 3193865 c.382G>C p.E128Q missense 0.00000831●●●●●●
570. 3193870 c.377G>A p.G126E missense 0.00001663●●●●●●
571. 3193879 c.368T>C p.L123P missense 0.00001665●●●●●●
572. 3193898 c.349A>G p.K117E missense 0.00000835●●●●●●
573. 3193901 c.346C>G p.P116A missense 0.00001672●●●●●●
574. 3193921 c.326C>T p.S109L missense 0.00000841●●●●●●
575. 3193948 c.299A>G p.D100G missense 0.00000863●●●●●●
576. 3193951 c.296C>A p.T99K missense 0.00001729●●●●●●
577. 3193952 c.295A>C p.T99P missense 0.00000866●●●●●●
578. 3214933 c.289G>A p.G97R missense 0.00000922●●●●●●
579. 3214941 c.281C>G p.S94C missense 0.00005437●●●●●●
580. 3214941 c.281C>T p.S94F missense 0.00004531●●●●●●
581. 3214945 c.277G>A p.G93S missense 0.00000901●●●●●●
582. 3214959 c.263C>T p.S88L missense 0.00000877●●●●●●
583. 3214963 c.259G>A p.A87T missense 0.00000873●●●●●●
584. 3214969 c.253A>C p.K85Q missense 0.00001729●●●●●●
585. 3214971 c.251G>C p.R84P missense 0.00001725●●●●●●
586. 3214971 c.251G>A p.R84Q missense 0.00001725●●●●●●
587. 3214993 c.229G>A p.A77T missense 0.00000850●●●●●●
588. 3215004 c.218C>A p.A73D missense 0.00001696●●●●●●
589. 3215011 c.211C>G p.Q71E missense 0.00000848●●●●●●
590. 3215016 c.206C>G p.S69C missense 0.00000848●●●●●●
591. 3215022 c.200C>T p.S67F missense 0.00001698●●●●●●
592. 3215026 c.196G>T p.A66S missense 0.00001701●●●●●●
593. 3215034 c.188G>T p.R63L missense 0.00000850●●●●●●
594. 3215037 c.185G>A p.R62H missense 0.00001701●●●●●●
595. 3215037 c.185G>T p.R62L missense 0.00000850●●●●●●
596. 3215038 c.184C>T p.R62C missense 0.00001700●●●●●●
597. 3215050 c.172T>C p.S58P missense 0.00000848●●●●●●
598. 3215053 c.169G>C p.E57Q missense 0.00000848●●●●●●
599. 3215055 c.167G>A p.R56Q missense 0.00000849●●●●●●
600. 3215064 c.158C>T p.A53V missense 0.00006772●●●●●●
601. 3215070 c.152C>A p.S51Y missense 0.00000848●●●●●●
602. 3215077 c.145C>T p.R49C missense 0.00003393●●●●●●
603. 3215089 c.133G>T p.A45S missense 0.00000845●●●●●●
604. 3215098 c.124G>A p.G42S missense 0.00001686●●●●●●
605. 3215139 c.83A>C p.H28P missense 0.00000858●●●●●●
606. 3215139 c.83A>G p.H28R missense 0.00000858●●●●●●
607. 3215140 c.82C>T p.H28Y missense 0.00000858●●●●●●
608. 3215151 c.71G>A p.S24N missense 0.00000870●●●●●●
609. 3215157 c.65T>C p.V22A missense 0.00000876●●●●●●
610. 3215158 c.64G>T p.V22L missense 0.00011465●●●●●●
611. 3215158 c.64G>A p.V22M missense 0.00006173●●●●●●
612. 3215165 c.57C>G p.N19K missense 0.00001808●●●●●●
613. 3215194 c.28C>A p.H10N missense 0.00000974●●●●●●
614. 3215196 c.26G>A p.C9Y missense 0.00001964●●●●●●
615. 3215205 c.17A>G p.Y6C missense 0.00001012●●●●●●
616. 3215209 c.13T>C p.F5L missense 0.00002043●●●●●●

* 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.