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. 3176040 c.1022G>C p.G341A missense 0.73841187●●●●●●
2. 3188976 c.541T>C p.S181P missense 0.43735299●●●●●●
3. 3126811 c.2879T>C p.I960T missense 0.19973158●●●●●●
4. 3215158 c.64G>C p.V22L missense 0.10696710●●●●●●
5. 3086065 c.4222G>A p.D1408N missense 0.07286908●●●●●●
6. 3188873 c.644C>T p.T215M missense 0.05654999●●●●●●
7. 3084007 c.4358T>C p.M1453T missense 0.02947275●●●●●●
8. 3071878 c.4718G>A p.R1573Q missense 0.00860612●●●●●●
9. 3135644 c.2110G>A p.E704K missense 0.00578246●●●●●●
10. 3215083 c.139A>G p.S47G missense 0.00537607●●●●●●
11. 3151736 c.1799A>T p.E600V missense 0.00496395●●●●●●
12. 3188778 c.739G>A p.E247K missense 0.00467073●●●●●●
13. 3119947 c.3038C>T p.A1013V missense 0.00411826●●●●●●
14. 3135692 c.2062A>T p.T688S missense 0.00270935●●●●●●
15. 3188927 c.590C>T p.T197M missense 0.00246032●●●●●●
16. 3214932 c.290G>T p.G97V missense 0.00213277●●●●●●
17. 3102594 c.3453T>A p.D1151E missense 0.00162416●●●●●●
18. 3188978 c.539C>T p.T180I missense 0.00143240●●●●●●
19. 3135575 c.2179A>G p.T727A missense 0.00133737●●●●●●
20. 3141984 c.1978C>G p.P660A missense 0.00107079●●●●●●
21. 3173950 c.1160C>T p.T387I missense 0.00082141●●●●●●
22. 3067357 c.4961C>T p.S1654L missense 0.00068860●●●●●●
23. 3188945 c.572C>T p.T191M missense 0.00062949●●●●●●
24. 3189056 c.461C>T p.T154M missense 0.00059117●●●●●●
25. 3094191 c.3841G>A p.E1281K missense 0.00056376●●●●●●
26. 3129368 c.2656A>G p.S886G missense 0.00056307●●●●●●
27. 3134682 c.2350G>A p.E784K missense 0.00054791●●●●●●
28. 3112302 c.3412C>T p.R1138C missense 0.00052500●●●●●●
29. 3134811 c.2221G>C p.A741P missense 0.00051363●●●●●●
30. 3083989 c.4376T>A p.I1459K missense 0.00047114●●●●●●
31. 3102508 c.3539A>G p.D1180G missense 0.00045634●●●●●●
32. 3102475 c.3572A>G p.N1191S missense 0.00044840●●●●●●
33. 3067415 c.4903G>A p.G1635S missense 0.00042946●●●●●●
34. 3102554 c.3493C>T p.P1165S missense 0.00041411●●●●●●
35. 3176070 c.992G>A p.R331Q missense 0.00035841●●●●●●
36. 3141939 c.2023A>G p.K675E missense 0.00035773●●●●●●
37. 3079314 c.4511G>A p.R1504K missense 0.00034166●●●●●●
38. 3164329 c.1448G>A p.R483H missense 0.00027463●●●●●●
39. 3075736 c.4672T>C p.F1558L missense 0.00024706●●●●●●
40. 3102499 c.3548G>A p.R1183Q missense 0.00024125●●●●●●
41. 3141959 c.2003G>A p.G668D missense 0.00024102●●●●●●
42. 3164380 c.1397C>T p.T466M missense 0.00023850●●●●●●
43. 3112301 c.3413G>A p.R1138H missense 0.00022511●●●●●●
44. 3151722 c.1813C>G p.L605V missense 0.00022400●●●●●●
45. 3112384 c.3330C>G p.S1110R missense 0.00022018●●●●●●
46. 3129295 c.2729C>T p.P910L missense 0.00021566●●●●●●
47. 3067526 c.4792G>A p.G1598R missense 0.00020773●●●●●●
48. 3067532 c.4786G>A p.V1596M missense 0.00019958●●●●●●
49. 3119975 c.3010A>G p.N1004D missense 0.00019856●●●●●●
50. 3164434 c.1343T>G p.V448G missense 0.00017689●●●●●●
51. 3083854 c.4417G>A p.E1473K missense 0.00017623●●●●●●
52. 3067309 c.5009C>A p.A1670E missense 0.00016492●●●●●●
53. 3154982 c.1606G>A p.D536N missense 0.00016015●●●●●●
54. 3193816 c.431G>A p.R144H missense 0.00015825●●●●●●
55. 3135667 c.2087G>A p.R696H missense 0.00015771●●●●●●
56. 3090761 c.3904G>A p.E1302K missense 0.00015735●●●●●●
57. 3151799 c.1736C>T p.S579F missense 0.00014910●●●●●●
58. 3151802 c.1733G>A p.R578H missense 0.00014909●●●●●●
59. 3129307 c.2717A>C p.E906A missense 0.00014908●●●●●●
60. 3215112 c.110C>T p.A37V missense 0.00014359●●●●●●
61. 3176067 c.995A>G p.Y332C missense 0.00013334●●●●●●
62. 3168820 c.1334G>T p.R445I missense 0.00013288●●●●●●
63. 3142010 c.1952G>A p.R651Q missense 0.00013282●●●●●●
64. 3215157 c.65T>G p.V22G missense 0.00013143●●●●●●
65. 3176107 c.955G>A p.V319I missense 0.00012663●●●●●●
66. 3084008 c.4357A>T p.M1453L missense 0.00012608●●●●●●
67. 3135617 c.2137C>T p.R713C missense 0.00011680●●●●●●
68. 3215158 c.64G>T p.V22L missense 0.00011465●●●●●●
69. 3164387 c.1390C>T p.R464W missense 0.00011186●●●●●●
70. 3168950 c.1204C>T p.R402W missense 0.00011100●●●●●●
71. 3173972 c.1138C>T p.R380C missense 0.00010775●●●●●●
72. 3164311 c.1466A>G p.Y489C missense 0.00010732●●●●●●
73. 3168968 c.1186C>T p.P396S missense 0.00010134●●●●●●
74. 3176092 c.970G>C p.G324R missense 0.00010032●●●●●●
75. 3089189 c.4120G>A p.V1374I missense 0.00010020●●●●●●
76. 3142007 c.1955G>A p.S652N missense 0.00009961●●●●●●
77. 3126784 c.2906A>G p.Y969C missense 0.00009311●●●●●●
78. 3215086 c.136T>C p.Y46H missense 0.00009297●●●●●●
79. 3135622 c.2132G>A p.R711H missense 0.00009165●●●●●●
80. 3174178 c.1051C>T p.R351W missense 0.00009116●●●●●●
81. 3151802 c.1733G>T p.R578L missense 0.00009111●●●●●●
82. 3100422 c.3578C>T p.T1193M missense 0.00008789●●●●●●
83. 3126839 c.2851G>T p.V951F missense 0.00008492●●●●●●
84. 3116436 c.3196G>A p.G1066R missense 0.00008482●●●●●●
85. 3083888 c.4383G>T p.L1461F missense 0.00008445●●●●●●
86. 3100335 c.3665A>G p.Y1222C missense 0.00008366●●●●●●
87. 3086110 c.4177A>G p.K1393E missense 0.00008310●●●●●●
88. 3187487 c.920G>C p.R307P missense 0.00008285●●●●●●
89. 3188790 c.727G>C p.V243L missense 0.00008162●●●●●●
90. 3089559 c.4045C>T p.R1349W missense 0.00007809●●●●●●
91. 3071885 c.4711C>T p.R1571C missense 0.00007796●●●●●●
92. 3116409 c.3223G>A p.V1075M missense 0.00007767●●●●●●
93. 3119876 c.3109G>A p.A1037T missense 0.00007706●●●●●●
94. 3154961 c.1627G>A p.G543R missense 0.00007556●●●●●●
95. 3135593 c.2161G>A p.G721S missense 0.00007553●●●●●●
96. 3083803 c.4468G>A p.V1490I missense 0.00007550●●●●●●
97. 3141971 c.1991G>A p.R664H missense 0.00007475●●●●●●
98. 3089558 c.4046G>A p.R1349Q missense 0.00006937●●●●●●
99. 3112389 c.3325G>A p.V1109I missense 0.00006810●●●●●●
100. 3215064 c.158C>T p.A53V missense 0.00006772●●●●●●
101. 3126770 c.2920G>A p.E974K missense 0.00006730●●●●●●
102. 3135616 c.2138G>A p.R713H missense 0.00006677●●●●●●
103. 3164386 c.1391G>A p.R464Q missense 0.00006673●●●●●●
104. 3116352 c.3280G>C p.A1094P missense 0.00006671●●●●●●
105. 3149196 c.1847G>A p.R616H missense 0.00006653●●●●●●
106. 3067519 c.4799C>T p.P1600L missense 0.00006643●●●●●●
107. 3102508 c.3539A>C p.D1180A missense 0.00006638●●●●●●
108. 3094169 c.3863C>T p.P1288L missense 0.00006637●●●●●●
109. 3151865 c.1670C>T p.S557L missense 0.00006634●●●●●●
110. 3134703 c.2329G>A p.V777I missense 0.00006630●●●●●●
111. 3174177 c.1052G>A p.R351Q missense 0.00006630●●●●●●
112. 3174171 c.1058C>T p.S353L missense 0.00006628●●●●●●
113. 3189020 c.497T>C p.I166T missense 0.00006625●●●●●●
114. 3215158 c.64G>A p.V22M missense 0.00006173●●●●●●
115. 3102628 c.3419G>A p.G1140E missense 0.00005833●●●●●●
116. 3112326 c.3388G>T p.A1130S missense 0.00005809●●●●●●
117. 3187500 c.907T>G p.W303G missense 0.00005798●●●●●●
118. 3188979 c.538A>G p.T180A missense 0.00005796●●●●●●
119. 3214941 c.281C>G p.S94C missense 0.00005437●●●●●●
120. 3164276 c.1501G>A p.D501N missense 0.00005144●●●●●●
121. 3135574 c.2180C>T p.T727M missense 0.00005085●●●●●●
122. 3112373 c.3341G>A p.R1114H missense 0.00005041●●●●●●
123. 3129472 c.2552C>T p.P851L missense 0.00004977●●●●●●
124. 3129427 c.2597C>T p.P866L missense 0.00004969●●●●●●
125. 3090751 c.3914T>C p.M1305T missense 0.00004969●●●●●●
126. 3187547 c.860C>T p.T287M missense 0.00004969●●●●●●
127. 3188891 c.626C>T p.T209M missense 0.00004969●●●●●●
128. 3100192 c.3692G>A p.R1231H missense 0.00004969●●●●●●
129. 3126842 c.2848A>G p.M950V missense 0.00004782●●●●●●
130. 3071855 c.4741G>A p.V1581M missense 0.00004757●●●●●●
131. 3214941 c.281C>T p.S94F missense 0.00004531●●●●●●
132. 3119888 c.3097G>A p.E1033K missense 0.00004326●●●●●●
133. 3168896 c.1258G>A p.E420K missense 0.00004224●●●●●●
134. 3215097 c.125G>T p.G42V missense 0.00004216●●●●●●
135. 3126772 c.2918G>A p.R973H missense 0.00004208●●●●●●
136. 3168890 c.1264A>G p.M422V missense 0.00004200●●●●●●
137. 3086139 c.4148T>C p.I1383T missense 0.00004199●●●●●●
138. 3131450 c.2429G>A p.R810Q missense 0.00004186●●●●●●
139. 3102488 c.3559G>A p.E1187K missense 0.00004184●●●●●●
140. 3142058 c.1904G>T p.G635V missense 0.00004177●●●●●●
141. 3135623 c.2131C>T p.R711C missense 0.00004165●●●●●●
142. 3187599 c.808G>A p.E270K missense 0.00004164●●●●●●
143. 3079257 c.4568C>T p.P1523L missense 0.00004164●●●●●●
144. 3086106 c.4181A>G p.D1394G missense 0.00004153●●●●●●
145. 3188832 c.685G>A p.A229T missense 0.00004152●●●●●●
146. 3141984 c.1978C>T p.P660S missense 0.00004150●●●●●●
147. 3129296 c.2728C>G p.P910A missense 0.00004146●●●●●●
148. 3085111 c.4271G>A p.G1424E missense 0.00004144●●●●●●
149. 3188900 c.617A>G p.K206R missense 0.00004142●●●●●●
150. 3067490 c.4828G>A p.E1610K missense 0.00004142●●●●●●
151. 3187488 c.919C>T p.R307C missense 0.00004142●●●●●●
152. 3129443 c.2581G>A p.V861M missense 0.00004142●●●●●●
153. 3134759 c.2273C>T p.S758L missense 0.00004141●●●●●●
154. 3134762 c.2270T>C p.V757A missense 0.00004141●●●●●●
155. 3174162 c.1067A>G p.N356S missense 0.00004141●●●●●●
156. 3067396 c.4922C>T p.S1641L missense 0.00004128●●●●●●
157. 3119924 c.3061G>A p.A1021T missense 0.00004118●●●●●●
158. 3119923 c.3062C>T p.A1021V missense 0.00004086●●●●●●
159. 3154976 c.1612G>A p.G538R missense 0.00004077●●●●●●
160. 3164339 c.1438T>C p.Y480H missense 0.00003960●●●●●●
161. 3119915 c.3070G>A p.A1024T missense 0.00003890●●●●●●
162. 3164419 c.1358C>T p.S453L missense 0.00003861●●●●●●
163. 3116354 c.3278C>T p.A1093V missense 0.00003778●●●●●●
164. 3116507 c.3125C>T p.P1042L missense 0.00003576●●●●●●
165. 3083814 c.4457A>T p.E1486V missense 0.00003523●●●●●●
166. 3083815 c.4456G>A p.E1486K missense 0.00003513●●●●●●
167. 3112406 c.3308G>A p.R1103Q missense 0.00003471●●●●●●
168. 3083818 c.4453G>A p.V1485M missense 0.00003431●●●●●●
169. 3116426 c.3206C>T p.P1069L missense 0.00003404●●●●●●
170. 3215023 c.199T>G p.S67A missense 0.00003397●●●●●●
171. 3215077 c.145C>T p.R49C missense 0.00003393●●●●●●
172. 3083820 c.4451A>G p.Y1484C missense 0.00003382●●●●●●
173. 3168895 c.1259A>G p.E420G missense 0.00003379●●●●●●
174. 3112374 c.3340C>T p.R1114C missense 0.00003364●●●●●●
175. 3094260 c.3772G>A p.G1258S missense 0.00003357●●●●●●
176. 3129493 c.2531G>T p.C844F missense 0.00003347●●●●●●
177. 3094254 c.3778G>T p.V1260F missense 0.00003346●●●●●●
178. 3131435 c.2444A>G p.N815S missense 0.00003336●●●●●●
179. 3176053 c.1009C>G p.L337V missense 0.00003329●●●●●●
180. 3193817 c.430C>T p.R144C missense 0.00003329●●●●●●
181. 3135700 c.2054G>A p.R685Q missense 0.00003327●●●●●●
182. 3112352 c.3362C>T p.A1121V missense 0.00003323●●●●●●
183. 3173942 c.1168C>T p.L390F missense 0.00003322●●●●●●
184. 3067517 c.4801C>T p.P1601S missense 0.00003321●●●●●●
185. 3083823 c.4448A>T p.Y1483F missense 0.00003320●●●●●●
186. 3187481 c.926C>T p.T309M missense 0.00003315●●●●●●
187. 3134724 c.2308G>A p.G770R missense 0.00003313●●●●●●
188. 3129307 c.2717A>G p.E906G missense 0.00003313●●●●●●
189. 3134736 c.2296A>C p.K766Q missense 0.00003313●●●●●●
190. 3187556 c.851G>A p.R284H missense 0.00003313●●●●●●
191. 3100193 c.3691C>T p.R1231C missense 0.00003312●●●●●●
192. 3174133 c.1096T>G p.S366A missense 0.00003312●●●●●●
193. 3188951 c.566A>T p.Q189L missense 0.00003312●●●●●●
194. 3067280 c.5038G>C p.G1680R missense 0.00003106●●●●●●
195. 3083850 c.4421G>A p.G1474D missense 0.00002966●●●●●●
196. 3164323 c.1454G>T p.R485L missense 0.00002938●●●●●●
197. 3164323 c.1454G>A p.R485Q missense 0.00002938●●●●●●
198. 3164324 c.1453C>T p.R485W missense 0.00002936●●●●●●
199. 3083881 c.4390A>C p.T1464P missense 0.00002809●●●●●●
200. 3155020 c.1568A>G p.K523R missense 0.00002775●●●●●●
201. 3085081 c.4301G>A p.R1434Q missense 0.00002747●●●●●●
202. 3094284 c.3748T>A p.L1250M missense 0.00002612●●●●●●
203. 3116474 c.3158A>G p.D1053G missense 0.00002609●●●●●●
204. 3116474 c.3158A>C p.D1053A missense 0.00002609●●●●●●
205. 3168922 c.1232T>C p.F411S missense 0.00002590●●●●●●
206. 3119873 c.3112G>A p.V1038I missense 0.00002564●●●●●●
207. 3126715 c.2975G>T p.S992I missense 0.00002563●●●●●●
208. 3067337 c.4981G>A p.V1661I missense 0.00002554●●●●●●
209. 3116432 c.3200G>A p.R1067Q missense 0.00002548●●●●●●
210. 3126787 c.2903A>C p.Y968S missense 0.00002539●●●●●●
211. 3126755 c.2935G>A p.V979I missense 0.00002513●●●●●●
212. 3086044 c.4243A>G p.I1415V missense 0.00002510●●●●●●
213. 3135613 c.2141G>C p.C714S missense 0.00002506●●●●●●
214. 3168874 c.1280G>A p.R427H missense 0.00002504●●●●●●
215. 3142040 c.1922C>T p.P641L missense 0.00002498●●●●●●
216. 3102623 c.3424A>G p.K1142E missense 0.00002496●●●●●●
217. 3135685 c.2069T>A p.L690H missense 0.00002492●●●●●●
218. 3112346 c.3368T>C p.V1123A missense 0.00002490●●●●●●
219. 3141995 c.1967T>C p.L656P missense 0.00002490●●●●●●
220. 3067501 c.4817G>T p.W1606L missense 0.00002488●●●●●●
221. 3134817 c.2215C>T p.P739S missense 0.00002487●●●●●●
222. 3151737 c.1798G>A p.E600K missense 0.00002486●●●●●●
223. 3151837 c.1698T>G p.F566L missense 0.00002486●●●●●●
224. 3151787 c.1748G>C p.R583P missense 0.00002485●●●●●●
225. 3151832 c.1703G>A p.R568H missense 0.00002485●●●●●●
226. 3090683 c.3982C>A p.H1328N missense 0.00002484●●●●●●
227. 3188906 c.611C>A p.A204E missense 0.00002484●●●●●●
228. 3188963 c.554C>T p.T185M missense 0.00002484●●●●●●
229. 3174118 c.1111A>G p.R371G missense 0.00002484●●●●●●
230. 3067409 c.4909A>T p.S1637C missense 0.00002478●●●●●●
231. 3083996 c.4369A>C p.K1457Q missense 0.00002456●●●●●●
232. 3164407 c.1370A>G p.Q457R missense 0.00002389●●●●●●
233. 3154951 c.1637T>C p.I546T missense 0.00002248●●●●●●
234. 3126872 c.2818A>G p.I940V missense 0.00002198●●●●●●
235. 3215209 c.13T>C p.F5L missense 0.00002043●●●●●●
236. 3116341 c.3291C>G p.N1097K missense 0.00001992●●●●●●
237. 3215196 c.26G>A p.C9Y missense 0.00001964●●●●●●
238. 3119915 c.3070G>T p.A1024S missense 0.00001945●●●●●●
239. 3075759 c.4649C>G p.A1550G missense 0.00001941●●●●●●
240. 3116349 c.3283A>G p.I1095V missense 0.00001926●●●●●●
241. 3155065 c.1523G>A p.G508E missense 0.00001900●●●●●●
242. 3187631 c.776A>G p.E259G missense 0.00001847●●●●●●
243. 3215165 c.57C>G p.N19K missense 0.00001808●●●●●●
244. 3075754 c.4654G>A p.D1552N missense 0.00001769●●●●●●
245. 3116484 c.3148G>C p.V1050L missense 0.00001751●●●●●●
246. 3215154 c.68G>A p.R23H missense 0.00001746●●●●●●
247. 3193951 c.296C>A p.T99K missense 0.00001729●●●●●●
248. 3214969 c.253A>C p.K85Q missense 0.00001729●●●●●●
249. 3214971 c.251G>A p.R84Q missense 0.00001725●●●●●●
250. 3214971 c.251G>C p.R84P missense 0.00001725●●●●●●
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504. 3193832 c.415C>T p.P139S missense 0.00000830●●●●●●
505. 3075473 c.4687C>G p.Q1563E missense 0.00000830●●●●●●
506. 3131391 c.2488G>A p.E830K missense 0.00000830●●●●●●
507. 3135674 c.2080T>C p.S694P missense 0.00000830●●●●●●
508. 3151878 c.1657A>G p.T553A missense 0.00000830●●●●●●
509. 3086078 c.4209G>C p.K1403N missense 0.00000830●●●●●●
510. 3168830 c.1324C>G p.Q442E missense 0.00000830●●●●●●
511. 3189044 c.473G>C p.R158T missense 0.00000830●●●●●●
512. 3112320 c.3394C>T p.P1132S missense 0.00000830●●●●●●
513. 3168832 c.1322T>C p.I441T missense 0.00000830●●●●●●
514. 3174198 c.1031T>A p.F344Y missense 0.00000830●●●●●●
515. 3086080 c.4207A>C p.K1403Q missense 0.00000830●●●●●●
516. 3112343 c.3371G>C p.G1124A missense 0.00000830●●●●●●
517. 3193838 c.409A>C p.M137L missense 0.00000830●●●●●●
518. 3112322 c.3392G>A p.G1131D missense 0.00000830●●●●●●
519. 3149185 c.1858C>T p.P620S missense 0.00000830●●●●●●
520. 3174202 c.1027G>A p.D343N missense 0.00000830●●●●●●
521. 3135668 c.2086C>T p.R696C missense 0.00000830●●●●●●
522. 3067504 c.4814C>T p.S1605L missense 0.00000830●●●●●●
523. 3149157 c.1886A>G p.E629G missense 0.00000829●●●●●●
524. 3174180 c.1049A>C p.Y350S missense 0.00000829●●●●●●
525. 3094199 c.3833T>C p.I1278T missense 0.00000829●●●●●●
526. 3173971 c.1139G>C p.R380P missense 0.00000829●●●●●●
527. 3134822 c.2210A>T p.D737V missense 0.00000829●●●●●●
528. 3134691 c.2341G>C p.G781R missense 0.00000829●●●●●●
529. 3129296 c.2728C>T p.P910S missense 0.00000829●●●●●●
530. 3129280 c.2744C>G p.A915G missense 0.00000829●●●●●●
531. 3187586 c.821T>C p.L274P missense 0.00000829●●●●●●
532. 3149171 c.1872G>C p.Q624H missense 0.00000829●●●●●●
533. 3173963 c.1147G>A p.A383T missense 0.00000829●●●●●●
534. 3094211 c.3821A>G p.K1274R missense 0.00000829●●●●●●
535. 3174193 c.1036G>A p.D346N missense 0.00000829●●●●●●
536. 3173987 c.1123G>A p.E375K missense 0.00000829●●●●●●
537. 3134817 c.2215C>G p.P739A missense 0.00000829●●●●●●
538. 3134699 c.2333C>T p.A778V missense 0.00000829●●●●●●
539. 3151856 c.1679A>G p.N560S missense 0.00000829●●●●●●
540. 3173993 c.1117A>G p.K373E missense 0.00000829●●●●●●
541. 3134708 c.2324C>T p.A775V missense 0.00000829●●●●●●
542. 3151862 c.1673A>G p.Q558R missense 0.00000829●●●●●●
543. 3094217 c.3815A>C p.N1272T missense 0.00000829●●●●●●
544. 3188925 c.592G>A p.A198T missense 0.00000828●●●●●●
545. 3134742 c.2290G>A p.D764N missense 0.00000828●●●●●●
546. 3129445 c.2579G>A p.R860H missense 0.00000828●●●●●●
547. 3090743 c.3922C>A p.L1308I missense 0.00000828●●●●●●
548. 3189007 c.510T>A p.N170K missense 0.00000828●●●●●●
549. 3134738 c.2294C>G p.A765G missense 0.00000828●●●●●●
550. 3151781 c.1754G>C p.R585P missense 0.00000828●●●●●●
551. 3134796 c.2236A>C p.I746L missense 0.00000828●●●●●●
552. 3189023 c.494A>G p.Y165C missense 0.00000828●●●●●●
553. 3067470 c.4848C>G p.D1616E missense 0.00000828●●●●●●
554. 3100167 c.3717C>A p.H1239Q missense 0.00000828●●●●●●
555. 3187532 c.875A>G p.E292G missense 0.00000828●●●●●●
556. 3067360 c.4958G>C p.G1653A missense 0.00000828●●●●●●
557. 3067477 c.4841C>T p.A1614V missense 0.00000828●●●●●●
558. 3129415 c.2609A>G p.Q870R missense 0.00000828●●●●●●
559. 3174119 c.1110A>C p.K370N missense 0.00000828●●●●●●
560. 3090712 c.3953T>C p.F1318S missense 0.00000828●●●●●●
561. 3174144 c.1085C>T p.S362L missense 0.00000828●●●●●●
562. 3188948 c.569C>T p.T190I missense 0.00000828●●●●●●
563. 3102577 c.3470A>T p.N1157I missense 0.00000828●●●●●●
564. 3151751 c.1784C>T p.P595L missense 0.00000828●●●●●●
565. 3134754 c.2278G>A p.E760K missense 0.00000828●●●●●●
566. 3102565 c.3482A>G p.D1161G missense 0.00000828●●●●●●
567. 3129448 c.2576G>A p.G859E missense 0.00000828●●●●●●
568. 3090752 c.3913A>G p.M1305V missense 0.00000828●●●●●●
569. 3129340 c.2684A>T p.E895V missense 0.00000828●●●●●●
570. 3067475 c.4843T>C p.S1615P missense 0.00000828●●●●●●
571. 3090659 c.4006G>T p.D1336Y missense 0.00000828●●●●●●
572. 3151803 c.1732C>T p.R578C missense 0.00000828●●●●●●
573. 3090679 c.3986C>A p.S1329Y missense 0.00000828●●●●●●
574. 3134713 c.2319A>G p.I773M missense 0.00000828●●●●●●
575. 3102551 c.3496A>G p.K1166E missense 0.00000828●●●●●●
576. 3188906 c.611C>T p.A204V missense 0.00000828●●●●●●
577. 3100192 c.3692G>C p.R1231P missense 0.00000828●●●●●●
578. 3188930 c.587C>T p.S196F missense 0.00000828●●●●●●
579. 3129442 c.2582T>G p.V861G missense 0.00000828●●●●●●
580. 3174151 c.1078G>A p.E360K missense 0.00000828●●●●●●
581. 3129298 c.2726C>T p.P909L missense 0.00000828●●●●●●
582. 3151766 c.1769T>C p.M590T missense 0.00000828●●●●●●
583. 3151784 c.1751T>C p.V584A missense 0.00000828●●●●●●
584. 3129449 c.2575G>T p.G859W missense 0.00000828●●●●●●
585. 3187508 c.899T>C p.I300T missense 0.00000828●●●●●●
586. 3129365 c.2659A>T p.S887C missense 0.00000828●●●●●●
587. 3129322 c.2702A>G p.E901G missense 0.00000828●●●●●●
588. 3090680 c.3985T>C p.S1329P missense 0.00000828●●●●●●
589. 3090665 c.4000G>T p.V1334F missense 0.00000828●●●●●●
590. 3151808 c.1727A>T p.E576V missense 0.00000828●●●●●●
591. 3129289 c.2735A>G p.Q912R missense 0.00000828●●●●●●
592. 3134723 c.2309G>A p.G770E missense 0.00000828●●●●●●
593. 3102572 c.3475G>A p.E1159K missense 0.00000828●●●●●●
594. 3188907 c.610G>A p.A204T missense 0.00000828●●●●●●
595. 3090721 c.3944C>G p.T1315R missense 0.00000828●●●●●●
596. 3129334 c.2690G>A p.S897N missense 0.00000828●●●●●●
597. 3129301 c.2723C>T p.T908I missense 0.00000828●●●●●●
598. 3090778 c.3887G>A p.R1296Q missense 0.00000828●●●●●●
599. 3134714 c.2318T>C p.I773T missense 0.00000828●●●●●●
600. 3151778 c.1757C>T p.A586V missense 0.00000828●●●●●●
601. 3134771 c.2261C>T p.S754L missense 0.00000828●●●●●●
602. 3188997 c.520A>G p.S174G missense 0.00000828●●●●●●
603. 3187519 c.888G>C p.L296F missense 0.00000828●●●●●●
604. 3100163 c.3721T>C p.F1241L missense 0.00000828●●●●●●
605. 3129402 c.2622G>C p.L874F missense 0.00000828●●●●●●
606. 3129338 c.2686G>T p.V896L missense 0.00000828●●●●●●
607. 3090698 c.3967G>A p.G1323R missense 0.00000828●●●●●●
608. 3174142 c.1087G>C p.A363P missense 0.00000828●●●●●●
609. 3067438 c.4880G>A p.R1627K missense 0.00000827●●●●●●
610. 3067444 c.4874C>A p.A1625D missense 0.00000827●●●●●●
611. 3067400 c.4918G>T p.D1640Y missense 0.00000826●●●●●●
612. 3067412 c.4906G>A p.V1636M missense 0.00000826●●●●●●
613. 3067414 c.4904G>T p.G1635V missense 0.00000826●●●●●●
614. 3067384 c.4934G>T p.G1645V missense 0.00000826●●●●●●
615. 3067408 c.4910G>T p.S1637I missense 0.00000826●●●●●●
616. 3067415 c.4903G>T p.G1635C missense 0.00000826●●●●●●

* 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.