MYOM1 variants in ExAC

MYOM1 gene summary
MYOM1 variants in

The table below lists the MYOM1 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. 3075712 c.4685+11G>T splice site 0.53986869●●●●●●
3. 3100429 c.3576-5C>T splice site 0.44223876●●●●●●
4. 3188976 c.541T>C p.S181P missense 0.43735299●●●●●●
5. 3168816 c.1338C>T p.N446N splice site 0.26201991●●●●●●
6. 3126811 c.2879T>C p.I960T missense 0.19973158●●●●●●
7. 3215158 c.64G>C p.V22L missense 0.10696710●●●●●●
8. 3086065 c.4222G>A p.D1408N missense 0.07286908●●●●●●
9. 3188873 c.644C>T p.T215M missense 0.05654999●●●●●●
10. 3084007 c.4358T>C p.M1453T missense 0.02947275●●●●●●
11. 3134826 c.2210-4T>G splice site 0.01005893●●●●●●
12. 3071878 c.4718G>A p.R1573Q missense 0.00860612●●●●●●
13. 3135644 c.2110G>A p.E704K missense 0.00578246●●●●●●
14. 3215083 c.139A>G p.S47G missense 0.00537607●●●●●●
15. 3151736 c.1799A>T p.E600V missense 0.00496395●●●●●●
16. 3188778 c.739G>A p.E247K missense 0.00467073●●●●●●
17. 3119947 c.3038C>T p.A1013V missense 0.00411826●●●●●●
18. 3149140 c.1900+3A>C splice site 0.00386241●●●●●●
19. 3174009 c.1112-11T>C splice site 0.00364673●●●●●●
20. 3135692 c.2062A>T p.T688S missense 0.00270935●●●●●●
21. 3089531 c.4069+4A>C splice site 0.00247269●●●●●●
22. 3188927 c.590C>T p.T197M missense 0.00246032●●●●●●
23. 3214932 c.290G>T p.G97V missense 0.00213277●●●●●●
24. 3102594 c.3453T>A p.D1151E missense 0.00162416●●●●●●
25. 3188978 c.539C>T p.T180I missense 0.00143240●●●●●●
26. 3135575 c.2179A>G p.T727A missense 0.00133737●●●●●●
27. 3141984 c.1978C>G p.P660A missense 0.00107079●●●●●●
28. 3151682 c.1843+10T>G splice site 0.00104287●●●●●●
29. 3134644 c.2384+4A>T splice site 0.00085628●●●●●●
30. 3173950 c.1160C>T p.T387I missense 0.00082141●●●●●●
31. 3126691 c.2991+8C>A splice site 0.00079536●●●●●●
32. 3067357 c.4961C>T p.S1654L missense 0.00068860●●●●●●
33. 3071822 c.4764+10A>G splice site 0.00065943●●●●●●
34. 3188945 c.572C>T p.T191M missense 0.00062949●●●●●●
35. 3189056 c.461C>T p.T154M missense 0.00059117●●●●●●
36. 3094191 c.3841G>A p.E1281K missense 0.00056376●●●●●●
37. 3129368 c.2656A>G p.S886G missense 0.00056307●●●●●●
38. 3134682 c.2350G>A p.E784K missense 0.00054791●●●●●●
39. 3112302 c.3412C>T p.R1138C missense 0.00052500●●●●●●
40. 3134811 c.2221G>C p.A741P missense 0.00051363●●●●●●
41. 3083989 c.4376T>A p.I1459K missense 0.00047114●●●●●●
42. 3102508 c.3539A>G p.D1180G missense 0.00045634●●●●●●
43. 3102475 c.3572A>G p.N1191S missense 0.00044840●●●●●●
44. 3067415 c.4903G>A p.G1635S missense 0.00042946●●●●●●
45. 3102554 c.3493C>T p.P1165S missense 0.00041411●●●●●●
46. 3189095 c.432-10_432-8delTGT splice site 0.00040116●●●●●●
47. 3176070 c.992G>A p.R331Q missense 0.00035841●●●●●●
48. 3141939 c.2023A>G p.K675E missense 0.00035773●●●●●●
49. 3164441 c.1340-4C>A splice site 0.00034944●●●●●●
50. 3083896 c.4379-4T>G splice site 0.00034286●●●●●●
51. 3079314 c.4511G>A p.R1504K missense 0.00034166●●●●●●
52. 3067273 c.5045dupA p.Lys1683GlufsTer16 frameshift 0.00030685●●●●●●
53. 3075765 c.4649-6T>C splice site 0.00027906●●●●●●
54. 3164329 c.1448G>A p.R483H missense 0.00027463●●●●●●
55. 3149137 c.1900+6_1900+8delAAG splice site 0.00027355●●●●●●
56. 3168981 c.1175-2A>T essential splice site 0.00025514●●●●●●
57. 3075736 c.4672T>C p.F1558L missense 0.00024706●●●●●●
58. 3142060 c.1902G>A splice site 0.00024236●●●●●●
59. 3102499 c.3548G>A p.R1183Q missense 0.00024125●●●●●●
60. 3141959 c.2003G>A p.G668D missense 0.00024102●●●●●●
61. 3164380 c.1397C>T p.T466M missense 0.00023850●●●●●●
62. 3112301 c.3413G>A p.R1138H missense 0.00022511●●●●●●
63. 3151722 c.1813C>G p.L605V missense 0.00022400●●●●●●
64. 3112384 c.3330C>G p.S1110R missense 0.00022018●●●●●●
65. 3129295 c.2729C>T p.P910L missense 0.00021566●●●●●●
66. 3067526 c.4792G>A p.G1598R missense 0.00020773●●●●●●
67. 3067532 c.4786G>A p.V1596M missense 0.00019958●●●●●●
68. 3119975 c.3010A>G p.N1004D missense 0.00019856●●●●●●
69. 3079170 c.4648+7A>G splice site 0.00018218●●●●●●
70. 3164434 c.1343T>G p.V448G missense 0.00017689●●●●●●
71. 3083854 c.4417G>A p.E1473K missense 0.00017623●●●●●●
72. 3129447 c.2577dupG p.Arg860AlafsTer4 frameshift 0.00016566●●●●●●
73. 3067309 c.5009C>A p.A1670E missense 0.00016492●●●●●●
74. 3154982 c.1606G>A p.D536N missense 0.00016015●●●●●●
75. 3193816 c.431G>A p.R144H missense 0.00015825●●●●●●
76. 3135667 c.2087G>A p.R696H missense 0.00015771●●●●●●
77. 3090761 c.3904G>A p.E1302K missense 0.00015735●●●●●●
78. 3188875 c.642_659delCACGGCATCCAGGCAGTC p.Thr215_Ser220del inframe 0.00014929●●●●●●
79. 3151799 c.1736C>T p.S579F missense 0.00014910●●●●●●
80. 3151802 c.1733G>A p.R578H missense 0.00014909●●●●●●
81. 3129307 c.2717A>C p.E906A missense 0.00014908●●●●●●
82. 3215112 c.110C>T p.A37V missense 0.00014359●●●●●●
83. 3075720 c.4685+3_4685+6delAAGT splice site 0.00014154●●●●●●
84. 3151902 c.1644-11C>T splice site 0.00013414●●●●●●
85. 3176067 c.995A>G p.Y332C missense 0.00013334●●●●●●
86. 3168820 c.1334G>T p.R445I missense 0.00013288●●●●●●
87. 3142010 c.1952G>A p.R651Q missense 0.00013282●●●●●●
88. 3215157 c.65T>G p.V22G missense 0.00013143●●●●●●
89. 3176107 c.955G>A p.V319I missense 0.00012663●●●●●●
90. 3084008 c.4357A>T p.M1453L missense 0.00012608●●●●●●
91. 3176080 c.982_984delATT p.Ile328del inframe 0.00012509●●●●●●
92. 3135617 c.2137C>T p.R713C missense 0.00011680●●●●●●
93. 3090807 c.3865-7A>C splice site 0.00011612●●●●●●
94. 3215158 c.64G>T p.V22L missense 0.00011465●●●●●●
95. 3084033 c.4340-8C>G splice site 0.00011267●●●●●●
96. 3164387 c.1390C>T p.R464W missense 0.00011186●●●●●●
97. 3168950 c.1204C>T p.R402W missense 0.00011100●●●●●●
98. 3173972 c.1138C>T p.R380C missense 0.00010775●●●●●●
99. 3164311 c.1466A>G p.Y489C missense 0.00010732●●●●●●
100. 3079345 c.4485-5C>T splice site 0.00010360●●●●●●
101. 3214924 c.290+8G>A splice site 0.00010294●●●●●●
102. 3168968 c.1186C>T p.P396S missense 0.00010134●●●●●●
103. 3176092 c.970G>C p.G324R missense 0.00010032●●●●●●
104. 3089189 c.4120G>A p.V1374I missense 0.00010020●●●●●●
105. 3142007 c.1955G>A p.S652N missense 0.00009961●●●●●●
106. 3126784 c.2906A>G p.Y969C missense 0.00009311●●●●●●
107. 3215086 c.136T>C p.Y46H missense 0.00009297●●●●●●
108. 3135622 c.2132G>A p.R711H missense 0.00009165●●●●●●
109. 3174178 c.1051C>T p.R351W missense 0.00009116●●●●●●
110. 3151802 c.1733G>T p.R578L missense 0.00009111●●●●●●
111. 3100422 c.3578C>T p.T1193M missense 0.00008789●●●●●●
112. 3116325 c.3303+4delA splice site 0.00008640●●●●●●
113. 3126839 c.2851G>T p.V951F missense 0.00008492●●●●●●
114. 3116436 c.3196G>A p.G1066R missense 0.00008482●●●●●●
115. 3083888 c.4383G>T p.L1461F missense 0.00008445●●●●●●
116. 3100335 c.3665A>G p.Y1222C missense 0.00008366●●●●●●
117. 3086110 c.4177A>G p.K1393E missense 0.00008310●●●●●●
118. 3187487 c.920G>C p.R307P missense 0.00008285●●●●●●
119. 3188790 c.727G>C p.V243L missense 0.00008162●●●●●●
120. 3089559 c.4045C>T p.R1349W missense 0.00007809●●●●●●
121. 3071885 c.4711C>T p.R1571C missense 0.00007796●●●●●●
122. 3116409 c.3223G>A p.V1075M missense 0.00007767●●●●●●
123. 3119876 c.3109G>A p.A1037T missense 0.00007706●●●●●●
124. 3154961 c.1627G>A p.G543R missense 0.00007556●●●●●●
125. 3135593 c.2161G>A p.G721S missense 0.00007553●●●●●●
126. 3083803 c.4468G>A p.V1490I missense 0.00007550●●●●●●
127. 3141971 c.1991G>A p.R664H missense 0.00007475●●●●●●
128. 3089558 c.4046G>A p.R1349Q missense 0.00006937●●●●●●
129. 3112389 c.3325G>A p.V1109I missense 0.00006810●●●●●●
130. 3187640 c.772-5T>C splice site 0.00006808●●●●●●
131. 3215064 c.158C>T p.A53V missense 0.00006772●●●●●●
132. 3126770 c.2920G>A p.E974K missense 0.00006730●●●●●●
133. 3135616 c.2138G>A p.R713H missense 0.00006677●●●●●●
134. 3164386 c.1391G>A p.R464Q missense 0.00006673●●●●●●
135. 3116352 c.3280G>C p.A1094P missense 0.00006671●●●●●●
136. 3149196 c.1847G>A p.R616H missense 0.00006653●●●●●●
137. 3067519 c.4799C>T p.P1600L missense 0.00006643●●●●●●
138. 3102508 c.3539A>C p.D1180A missense 0.00006638●●●●●●
139. 3094169 c.3863C>T p.P1288L missense 0.00006637●●●●●●
140. 3151865 c.1670C>T p.S557L missense 0.00006634●●●●●●
141. 3174177 c.1052G>A p.R351Q missense 0.00006630●●●●●●
142. 3134703 c.2329G>A p.V777I missense 0.00006630●●●●●●
143. 3174171 c.1058C>T p.S353L missense 0.00006628●●●●●●
144. 3189020 c.497T>C p.I166T missense 0.00006625●●●●●●
145. 3188740 c.771+6A>G splice site 0.00006509●●●●●●
146. 3215158 c.64G>A p.V22M missense 0.00006173●●●●●●
147. 3102628 c.3419G>A p.G1140E missense 0.00005833●●●●●●
148. 3112326 c.3388G>T p.A1130S missense 0.00005809●●●●●●
149. 3187500 c.907T>G p.W303G missense 0.00005798●●●●●●
150. 3188979 c.538A>G p.T180A missense 0.00005796●●●●●●
151. 3214941 c.281C>G p.S94C missense 0.00005437●●●●●●
152. 3164276 c.1501G>A p.D501N missense 0.00005144●●●●●●
153. 3134649 c.2383C>T p.R795X nonsense 0.00005101●●●●●●
154. 3135574 c.2180C>T p.T727M missense 0.00005085●●●●●●
155. 3112373 c.3341G>A p.R1114H missense 0.00005041●●●●●●
156. 3129472 c.2552C>T p.P851L missense 0.00004977●●●●●●
157. 3187547 c.860C>T p.T287M missense 0.00004969●●●●●●
158. 3100192 c.3692G>A p.R1231H missense 0.00004969●●●●●●
159. 3090751 c.3914T>C p.M1305T missense 0.00004969●●●●●●
160. 3129427 c.2597C>T p.P866L missense 0.00004969●●●●●●
161. 3188891 c.626C>T p.T209M missense 0.00004969●●●●●●
162. 3126842 c.2848A>G p.M950V missense 0.00004782●●●●●●
163. 3071855 c.4741G>A p.V1581M missense 0.00004757●●●●●●
164. 3214941 c.281C>T p.S94F missense 0.00004531●●●●●●
165. 3086027 c.4251+9T>C splice site 0.00004349●●●●●●
166. 3119888 c.3097G>A p.E1033K missense 0.00004326●●●●●●
167. 3086029 c.4251+7G>A splice site 0.00004318●●●●●●
168. 3083784 c.4484+3A>C splice site 0.00004266●●●●●●
169. 3168896 c.1258G>A p.E420K missense 0.00004224●●●●●●
170. 3215097 c.125G>T p.G42V missense 0.00004216●●●●●●
171. 3126772 c.2918G>A p.R973H missense 0.00004208●●●●●●
172. 3168890 c.1264A>G p.M422V missense 0.00004200●●●●●●
173. 3086139 c.4148T>C p.I1383T missense 0.00004199●●●●●●
174. 3131450 c.2429G>A p.R810Q missense 0.00004186●●●●●●
175. 3102488 c.3559G>A p.E1187K missense 0.00004184●●●●●●
176. 3142058 c.1904G>T p.G635V missense 0.00004177●●●●●●
177. 3135623 c.2131C>T p.R711C missense 0.00004165●●●●●●
178. 3079257 c.4568C>T p.P1523L missense 0.00004164●●●●●●
179. 3187599 c.808G>A p.E270K missense 0.00004164●●●●●●
180. 3086106 c.4181A>G p.D1394G missense 0.00004153●●●●●●
181. 3188832 c.685G>A p.A229T missense 0.00004152●●●●●●
182. 3141984 c.1978C>T p.P660S missense 0.00004150●●●●●●
183. 3129296 c.2728C>G p.P910A missense 0.00004146●●●●●●
184. 3085111 c.4271G>A p.G1424E missense 0.00004144●●●●●●
185. 3187488 c.919C>T p.R307C missense 0.00004142●●●●●●
186. 3188900 c.617A>G p.K206R missense 0.00004142●●●●●●
187. 3067490 c.4828G>A p.E1610K missense 0.00004142●●●●●●
188. 3129443 c.2581G>A p.V861M missense 0.00004142●●●●●●
189. 3174162 c.1067A>G p.N356S missense 0.00004141●●●●●●
190. 3134759 c.2273C>T p.S758L missense 0.00004141●●●●●●
191. 3134762 c.2270T>C p.V757A missense 0.00004141●●●●●●
192. 3067396 c.4922C>T p.S1641L missense 0.00004128●●●●●●
193. 3119924 c.3061G>A p.A1021T missense 0.00004118●●●●●●
194. 3119923 c.3062C>T p.A1021V missense 0.00004086●●●●●●
195. 3154976 c.1612G>A p.G538R missense 0.00004077●●●●●●
196. 3164339 c.1438T>C p.Y480H missense 0.00003960●●●●●●
197. 3119915 c.3070G>A p.A1024T missense 0.00003890●●●●●●
198. 3164419 c.1358C>T p.S453L missense 0.00003861●●●●●●
199. 3116354 c.3278C>T p.A1093V missense 0.00003778●●●●●●
200. 3164412 c.1365G>A p.W455X nonsense 0.00003675●●●●●●
201. 3116507 c.3125C>T p.P1042L missense 0.00003576●●●●●●
202. 3083814 c.4457A>T p.E1486V missense 0.00003523●●●●●●
203. 3083815 c.4456G>A p.E1486K missense 0.00003513●●●●●●
204. 3112406 c.3308G>A p.R1103Q missense 0.00003471●●●●●●
205. 3083818 c.4453G>A p.V1485M missense 0.00003431●●●●●●
206. 3086030 c.4251+6C>T splice site 0.00003427●●●●●●
207. 3116426 c.3206C>T p.P1069L missense 0.00003404●●●●●●
208. 3215023 c.199T>G p.S67A missense 0.00003397●●●●●●
209. 3215077 c.145C>T p.R49C missense 0.00003393●●●●●●
210. 3083820 c.4451A>G p.Y1484C missense 0.00003382●●●●●●
211. 3168895 c.1259A>G p.E420G missense 0.00003379●●●●●●
212. 3112374 c.3340C>T p.R1114C missense 0.00003364●●●●●●
213. 3094260 c.3772G>A p.G1258S missense 0.00003357●●●●●●
214. 3129493 c.2531G>T p.C844F missense 0.00003347●●●●●●
215. 3094254 c.3778G>T p.V1260F missense 0.00003346●●●●●●
216. 3131435 c.2444A>G p.N815S missense 0.00003336●●●●●●
217. 3176071 c.991C>T p.R331X nonsense 0.00003335●●●●●●
218. 3193817 c.430C>T p.R144C missense 0.00003329●●●●●●
219. 3176053 c.1009C>G p.L337V missense 0.00003329●●●●●●
220. 3135700 c.2054G>A p.R685Q missense 0.00003327●●●●●●
221. 3112352 c.3362C>T p.A1121V missense 0.00003323●●●●●●
222. 3173942 c.1168C>T p.L390F missense 0.00003322●●●●●●
223. 3067517 c.4801C>T p.P1601S missense 0.00003321●●●●●●
224. 3083823 c.4448A>T p.Y1483F missense 0.00003320●●●●●●
225. 3187481 c.926C>T p.T309M missense 0.00003315●●●●●●
226. 3174002 c.1112-4C>T splice site 0.00003315●●●●●●
227. 3134736 c.2296A>C p.K766Q missense 0.00003313●●●●●●
228. 3129307 c.2717A>G p.E906G missense 0.00003313●●●●●●
229. 3134724 c.2308G>A p.G770R missense 0.00003313●●●●●●
230. 3187556 c.851G>A p.R284H missense 0.00003313●●●●●●
231. 3188969 c.548delA p.Gln183ArgfsTer62 frameshift 0.00003312●●●●●●
232. 3100193 c.3691C>T p.R1231C missense 0.00003312●●●●●●
233. 3188951 c.566A>T p.Q189L missense 0.00003312●●●●●●
234. 3174133 c.1096T>G p.S366A missense 0.00003312●●●●●●
235. 3067280 c.5038G>C p.G1680R missense 0.00003106●●●●●●
236. 3164279 c.1498C>T p.R500X nonsense 0.00003053●●●●●●
237. 3083850 c.4421G>A p.G1474D missense 0.00002966●●●●●●
238. 3164323 c.1454G>A p.R485Q missense 0.00002938●●●●●●
239. 3164323 c.1454G>T p.R485L missense 0.00002938●●●●●●
240. 3164324 c.1453C>T p.R485W missense 0.00002936●●●●●●
241. 3083891 c.4380T>G splice site 0.00002856●●●●●●
242. 3083881 c.4390A>C p.T1464P missense 0.00002809●●●●●●
243. 3155020 c.1568A>G p.K523R missense 0.00002775●●●●●●
244. 3085081 c.4301G>A p.R1434Q missense 0.00002747●●●●●●
245. 3126691 c.2991+8C>T splice site 0.00002743●●●●●●
246. 3085082 c.4300C>T p.R1434X nonsense 0.00002731●●●●●●
247. 3084030 c.4340-5C>T splice site 0.00002719●●●●●●
248. 3116372 c.3260G>A p.W1087X nonsense 0.00002696●●●●●●
249. 3215159 c.63_64insCACCGCAACAAG p.Asp21_Val22insHisArgAsnLys inframe 0.00002646●●●●●●
250. 3215158 c.64_65insACC p.Val22delinsAspLeu inframe 0.00002629●●●●●●
251. 3094284 c.3748T>A p.L1250M missense 0.00002612●●●●●●
252. 3116474 c.3158A>G p.D1053G missense 0.00002609●●●●●●
253. 3116474 c.3158A>C p.D1053A missense 0.00002609●●●●●●
254. 3168922 c.1232T>C p.F411S missense 0.00002590●●●●●●
255. 3119873 c.3112G>A p.V1038I missense 0.00002564●●●●●●
256. 3126715 c.2975G>T p.S992I missense 0.00002563●●●●●●
257. 3067337 c.4981G>A p.V1661I missense 0.00002554●●●●●●
258. 3089167 c.4137+5G>C splice site 0.00002549●●●●●●
259. 3116432 c.3200G>A p.R1067Q missense 0.00002548●●●●●●
260. 3126787 c.2903A>C p.Y968S missense 0.00002539●●●●●●
261. 3126755 c.2935G>A p.V979I missense 0.00002513●●●●●●
262. 3086044 c.4243A>G p.I1415V missense 0.00002510●●●●●●
263. 3142063 c.1901-2A>G essential splice site 0.00002509●●●●●●
264. 3135613 c.2141G>C p.C714S missense 0.00002506●●●●●●
265. 3168874 c.1280G>A p.R427H missense 0.00002504●●●●●●
266. 3193811 c.431+5G>C splice site 0.00002503●●●●●●
267. 3142040 c.1922C>T p.P641L missense 0.00002498●●●●●●
268. 3102623 c.3424A>G p.K1142E missense 0.00002496●●●●●●
269. 3135685 c.2069T>A p.L690H missense 0.00002492●●●●●●
270. 3141995 c.1967T>C p.L656P missense 0.00002490●●●●●●
271. 3112346 c.3368T>C p.V1123A missense 0.00002490●●●●●●
272. 3188875 c.642_660delCACGGCATCCAGGCAGTCTinsCACGGCATCCAGGCAGTCCATGGCATCCAGGCAGT p.Val221MetfsTer22 frameshift 0.00002488●●●●●●
273. 3188857 c.660_661insCC p.Val221ProfsTer25 frameshift 0.00002488●●●●●●
274. 3067501 c.4817G>T p.W1606L missense 0.00002488●●●●●●
275. 3134817 c.2215C>T p.P739S missense 0.00002487●●●●●●
276. 3151837 c.1698T>G p.F566L missense 0.00002486●●●●●●
277. 3151737 c.1798G>A p.E600K missense 0.00002486●●●●●●
278. 3151787 c.1748G>C p.R583P missense 0.00002485●●●●●●
279. 3151788 c.1747C>T p.R583X nonsense 0.00002485●●●●●●
280. 3151832 c.1703G>A p.R568H missense 0.00002485●●●●●●
281. 3151782 c.1753C>T p.R585X nonsense 0.00002485●●●●●●
282. 3188906 c.611C>A p.A204E missense 0.00002484●●●●●●
283. 3174118 c.1111A>G p.R371G missense 0.00002484●●●●●●
284. 3090683 c.3982C>A p.H1328N missense 0.00002484●●●●●●
285. 3188963 c.554C>T p.T185M missense 0.00002484●●●●●●
286. 3188880 c.637C>T p.Q213X nonsense 0.00002484●●●●●●
287. 3067409 c.4909A>T p.S1637C missense 0.00002478●●●●●●
288. 3083996 c.4369A>C p.K1457Q missense 0.00002456●●●●●●
289. 3083980 c.4378+7C>G splice site 0.00002437●●●●●●
290. 3164407 c.1370A>G p.Q457R missense 0.00002389●●●●●●
291. 3154951 c.1637T>C p.I546T missense 0.00002248●●●●●●
292. 3126872 c.2818A>G p.I940V missense 0.00002198●●●●●●
293. 3215209 c.13T>C p.F5L missense 0.00002043●●●●●●
294. 3116341 c.3291C>G p.N1097K missense 0.00001992●●●●●●
295. 3155085 c.1503T>C splice site 0.00001976●●●●●●
296. 3215196 c.26G>A p.C9Y missense 0.00001964●●●●●●
297. 3119915 c.3070G>T p.A1024S missense 0.00001945●●●●●●
298. 3075759 c.4649C>G p.A1550G missense 0.00001941●●●●●●
299. 3116349 c.3283A>G p.I1095V missense 0.00001926●●●●●●
300. 3155065 c.1523G>A p.G508E missense 0.00001900●●●●●●
301. 3075758 c.4650A>G splice site 0.00001893●●●●●●
302. 3187631 c.776A>G p.E259G missense 0.00001847●●●●●●
303. 3085042 c.4339+1G>T essential splice site 0.00001833●●●●●●
304. 3129234 c.2790_2793delCAGA p.Asp930GlufsTer40 frameshift 0.00001812●●●●●●
305. 3215165 c.57C>G p.N19K missense 0.00001808●●●●●●
306. 3116512 c.3120A>G splice site 0.00001800●●●●●●
307. 3075754 c.4654G>A p.D1552N missense 0.00001769●●●●●●
308. 3116484 c.3148G>C p.V1050L missense 0.00001751●●●●●●
309. 3079178 c.4647A>G p.Q1549Q splice site 0.00001747●●●●●●
310. 3215154 c.68G>A p.R23H missense 0.00001746●●●●●●
311. 3214969 c.253A>C p.K85Q missense 0.00001729●●●●●●
312. 3193951 c.296C>A p.T99K missense 0.00001729●●●●●●
313. 3214971 c.251G>C p.R84P missense 0.00001725●●●●●●
314. 3214971 c.251G>A p.R84Q missense 0.00001725●●●●●●
315. 3119999 c.2992-6T>C splice site 0.00001718●●●●●●
316. 3067277 c.5041G>C p.G1681R missense 0.00001718●●●●●●
317. 3129517 c.2507G>T p.G836V missense 0.00001717●●●●●●
318. 3079343 c.4485-3C>T splice site 0.00001714●●●●●●
319. 3135569 c.2185G>A p.V729M missense 0.00001706●●●●●●
320. 3215037 c.185G>A p.R62H missense 0.00001701●●●●●●
321. 3215026 c.196G>T p.A66S missense 0.00001701●●●●●●
322. 3215038 c.184C>T p.R62C missense 0.00001700●●●●●●
323. 3116433 c.3199C>T p.R1067W missense 0.00001698●●●●●●
324. 3215022 c.200C>T p.S67F missense 0.00001698●●●●●●
325. 3215004 c.218C>A p.A73D missense 0.00001696●●●●●●
326. 3131466 c.2413C>A p.Q805K missense 0.00001689●●●●●●
327. 3079333 c.4492G>A p.A1498T missense 0.00001688●●●●●●
328. 3102478 c.3569G>A p.G1190D missense 0.00001688●●●●●●
329. 3215098 c.124G>A p.G42S missense 0.00001686●●●●●●
330. 3112290 c.3418+6C>A splice site 0.00001686●●●●●●
331. 3126773 c.2917C>T p.R973C missense 0.00001683●●●●●●
332. 3176103 c.959A>G p.H320R missense 0.00001681●●●●●●
333. 3079206 c.4619A>G p.H1540R missense 0.00001678●●●●●●
334. 3089240 c.4070-1G>C essential splice site 0.00001678●●●●●●
335. 3086136 c.4151A>G p.K1384R missense 0.00001676●●●●●●
336. 3112367 c.3347G>A p.R1116Q missense 0.00001675●●●●●●
337. 3100317 c.3682+1G>T essential splice site 0.00001675●●●●●●
338. 3079323 c.4502A>G p.Y1501C missense 0.00001674●●●●●●
339. 3100369 c.3631G>A p.D1211N missense 0.00001673●●●●●●
340. 3142070 c.1901-9_1901-7delGTT splice site 0.00001673●●●●●●
341. 3100368 c.3632A>C p.D1211A missense 0.00001673●●●●●●
342. 3193901 c.346C>G p.P116A missense 0.00001672●●●●●●
343. 3134663 c.2369C>T p.P790L missense 0.00001672●●●●●●
344. 3094251 c.3781C>T p.R1261W missense 0.00001669●●●●●●
345. 3094250 c.3782G>A p.R1261Q missense 0.00001669●●●●●●
346. 3151896 c.1644-5T>A splice site 0.00001667●●●●●●
347. 3168866 c.1288A>G p.I430V missense 0.00001666●●●●●●
348. 3151895 c.1644-4T>G splice site 0.00001666●●●●●●
349. 3086122 c.4165A>G p.I1389V missense 0.00001666●●●●●●
350. 3079303 c.4522G>A p.G1508R missense 0.00001665●●●●●●
351. 3193879 c.368T>C p.L123P missense 0.00001665●●●●●●
352. 3135626 c.2128T>C p.F710L missense 0.00001664●●●●●●
353. 3079268 c.4557C>G p.N1519K missense 0.00001664●●●●●●
354. 3193870 c.377G>A p.G126E missense 0.00001663●●●●●●
355. 3141945 c.2017G>A p.V673M missense 0.00001663●●●●●●
356. 3102500 c.3547C>T p.R1183X nonsense 0.00001662●●●●●●
357. 3149194 c.1849C>G p.P617A missense 0.00001662●●●●●●
358. 3142029 c.1933T>A p.S645T missense 0.00001662●●●●●●
359. 3193835 c.412G>A p.V138I missense 0.00001661●●●●●●
360. 3075750 c.4658A>G p.E1553G missense 0.00001661●●●●●●
361. 3094236 c.3796G>A p.A1266T missense 0.00001661●●●●●●
362. 3135667 c.2087G>T p.R696L missense 0.00001660●●●●●●
363. 3094217 c.3815A>G p.N1272S missense 0.00001659●●●●●●
364. 3187586 c.821T>A p.L274H missense 0.00001659●●●●●●
365. 3173957 c.1153G>T p.A385S missense 0.00001659●●●●●●
366. 3094212 c.3820A>G p.K1274E missense 0.00001659●●●●●●
367. 3173965 c.1145A>G p.H382R missense 0.00001658●●●●●●
368. 3187475 c.929+3A>G splice site 0.00001658●●●●●●
369. 3149172 c.1871A>G p.Q624R missense 0.00001658●●●●●●
370. 3102601 c.3446A>G p.D1149G missense 0.00001658●●●●●●
371. 3090779 c.3886C>T p.R1296X nonsense 0.00001657●●●●●●
372. 3102568 c.3479G>A p.C1160Y missense 0.00001657●●●●●●
373. 3151821 c.1714A>G p.T572A missense 0.00001657●●●●●●
374. 3102524 c.3523T>G p.Y1175D missense 0.00001657●●●●●●
375. 3090661 c.4004G>A p.G1335E missense 0.00001657●●●●●●
376. 3134708 c.2324C>A p.A775E missense 0.00001657●●●●●●
377. 3090665 c.4000G>A p.V1334I missense 0.00001657●●●●●●
378. 3067490 c.4828G>C p.E1610Q missense 0.00001657●●●●●●
379. 3090784 c.3881T>C p.I1294T missense 0.00001657●●●●●●
380. 3151809 c.1726G>A p.E576K missense 0.00001657●●●●●●
381. 3100208 c.3683-7C>T splice site 0.00001656●●●●●●
382. 3090721 c.3944C>T p.T1315M missense 0.00001656●●●●●●
383. 3129406 c.2618delC p.Ala873ValfsTer24 frameshift 0.00001656●●●●●●
384. 3189021 c.496A>G p.I166V missense 0.00001656●●●●●●
385. 3067448 c.4870G>A p.E1624K missense 0.00001654●●●●●●
386. 3067433 c.4885G>A p.A1629T missense 0.00001653●●●●●●
387. 3067405 c.4913C>T p.T1638I missense 0.00001652●●●●●●
388. 3067385 c.4933G>A p.G1645R missense 0.00001652●●●●●●
389. 3071846 c.4750A>G p.I1584V missense 0.00001642●●●●●●
390. 3071882 c.4714G>T p.A1572S missense 0.00001552●●●●●●
391. 3071868 c.4728_4730delAGG p.Gly1577del inframe 0.00001542●●●●●●
392. 3085135 c.4252-5delC splice site 0.00001486●●●●●●
393. 3085129 c.4253T>G p.F1418C missense 0.00001450●●●●●●
394. 3085112 c.4270G>A p.G1424R missense 0.00001388●●●●●●
395. 3119971 c.3014T>A p.M1005K missense 0.00001379●●●●●●
396. 3085100 c.4282G>T p.V1428F missense 0.00001363●●●●●●
397. 3075733 c.4675C>T p.Q1559X nonsense 0.00001360●●●●●●
398. 3085088 c.4294_4295delGA p.Asp1432Ter frameshift 0.00001359●●●●●●
399. 3119954 c.3031G>A p.V1011M missense 0.00001244●●●●●●
400. 3119951 c.3034G>T p.A1012S missense 0.00001223●●●●●●
401. 3164399 c.1378T>C p.W460R missense 0.00001162●●●●●●
402. 3154952 c.1636A>G p.I546V missense 0.00001121●●●●●●
403. 3119938 c.3047T>C p.M1016T missense 0.00001110●●●●●●
404. 3126871 c.2819T>A p.I940N missense 0.00001088●●●●●●
405. 3215219 c.3_4insA p.Ser2IlefsTer13 frameshift 0.00001065●●●●●●
406. 3126865 c.2825G>A p.C942Y missense 0.00001063●●●●●●
407. 3119929 c.3056T>C p.L1019P missense 0.00001060●●●●●●
408. 3100432 c.3576-8T>A splice site 0.00001053●●●●●●
409. 3094312 c.3728-8T>G splice site 0.00001046●●●●●●
410. 3100430 c.3576-6C>G splice site 0.00001041●●●●●●
411. 3164381 c.1396A>C p.T466P missense 0.00001037●●●●●●
412. 3119925 c.3060_3061insTGGGC p.Ala1021TrpfsTer7 frameshift 0.00001029●●●●●●
413. 3164278 c.1499G>A p.R500Q missense 0.00001023●●●●●●
414. 3215205 c.17A>G p.Y6C missense 0.00001012●●●●●●
415. 3116337 c.3295T>C p.Y1099H missense 0.00001012●●●●●●
416. 3116340 c.3292G>A p.V1098I missense 0.00001002●●●●●●
417. 3126854 c.2836T>C p.F946L missense 0.00001001●●●●●●
418. 3116341 c.3291C>A p.N1097K missense 0.00000996●●●●●●
419. 3168964 c.1190A>G p.Y397C missense 0.00000988●●●●●●
420. 3126851 c.2839C>T p.R947C missense 0.00000988●●●●●●
421. 3164294 c.1483G>T p.A495S missense 0.00000986●●●●●●
422. 3126850 c.2840G>A p.R947H missense 0.00000985●●●●●●
423. 3164330 c.1447C>T p.R483C missense 0.00000984●●●●●●
424. 3164333 c.1444A>G p.I482V missense 0.00000983●●●●●●
425. 3164332 c.1445T>C p.I482T missense 0.00000982●●●●●●
426. 3164317 c.1460G>C p.G487A missense 0.00000978●●●●●●
427. 3154988 c.1600G>T p.A534S missense 0.00000977●●●●●●
428. 3094305 c.3728-1G>A essential splice site 0.00000976●●●●●●
429. 3215194 c.28C>A p.H10N missense 0.00000974●●●●●●
430. 3067298 c.5020G>A p.A1674T missense 0.00000972●●●●●●
431. 3168961 c.1193G>T p.G398V missense 0.00000970●●●●●●
432. 3155074 c.1514A>C p.E505A missense 0.00000964●●●●●●
433. 3126844 c.2846C>G p.S949X nonsense 0.00000963●●●●●●
434. 3187639 c.772-4T>C splice site 0.00000963●●●●●●
435. 3155063 c.1525G>A p.A509T missense 0.00000951●●●●●●
436. 3155006 c.1582A>G p.I528V missense 0.00000942●●●●●●
437. 3089598 c.4010-4G>T splice site 0.00000938●●●●●●
438. 3067303 c.5015T>G p.M1672R missense 0.00000938●●●●●●
439. 3155009 c.1579A>G p.I527V missense 0.00000937●●●●●●
440. 3214924 c.290+8G>T splice site 0.00000936●●●●●●
441. 3155014 c.1574A>G p.Y525C missense 0.00000932●●●●●●
442. 3168952 c.1202C>A p.S401Y missense 0.00000930●●●●●●
443. 3214931 c.290+1G>A essential splice site 0.00000926●●●●●●
444. 3079169 c.4648+8_4648+9delGA splice site 0.00000924●●●●●●
445. 3116360 c.3272A>G p.N1091S missense 0.00000923●●●●●●
446. 3126833 c.2857G>A p.G953R missense 0.00000922●●●●●●
447. 3155042 c.1546G>T p.V516L missense 0.00000922●●●●●●
448. 3214933 c.289G>A p.G97R missense 0.00000922●●●●●●
449. 3155042 c.1546G>A p.V516M missense 0.00000922●●●●●●
450. 3168949 c.1205G>A p.R402Q missense 0.00000921●●●●●●
451. 3119906 c.3079G>A p.E1027K missense 0.00000919●●●●●●
452. 3079169 c.4648+8G>T splice site 0.00000916●●●●●●
453. 3188789 c.728T>C p.V243A missense 0.00000910●●●●●●
454. 3214945 c.277G>A p.G93S missense 0.00000901●●●●●●
455. 3126824 c.2866C>T p.Q956X nonsense 0.00000901●●●●●●
456. 3131500 c.2385-6T>G splice site 0.00000900●●●●●●
457. 3067313 c.5005_5006insGT p.Glu1669GlyfsTer11 frameshift 0.00000899●●●●●●
458. 3215162 c.60G>C p.K20N missense 0.00000898●●●●●●
459. 3100428 c.3576-4G>C splice site 0.00000897●●●●●●
460. 3116373 c.3259T>C p.W1087R missense 0.00000897●●●●●●
461. 3100428 c.3576-4G>A splice site 0.00000897●●●●●●
462. 3215160 c.62_63insTCTCAGCTAC p.Val22LeufsTer63 frameshift 0.00000892●●●●●●
463. 3126698 c.2991+1G>T essential splice site 0.00000889●●●●●●
464. 3126815 c.2875A>G p.K959E missense 0.00000888●●●●●●
465. 3135552 c.2202C>A p.D734E missense 0.00000884●●●●●●
466. 3126813 c.2877G>C p.K959N missense 0.00000884●●●●●●
467. 3116387 c.3245C>G p.A1082G missense 0.00000883●●●●●●
468. 3187623 c.784G>A p.E262K missense 0.00000879●●●●●●
469. 3168932 c.1222G>A p.D408N missense 0.00000878●●●●●●
470. 3214959 c.263C>T p.S88L missense 0.00000877●●●●●●
471. 3215158 c.64_65insCAACAAGGACC p.Val22AlafsTer9 frameshift 0.00000876●●●●●●
472. 3215157 c.65T>C p.V22A missense 0.00000876●●●●●●
473. 3131489 c.2390C>T p.T797I missense 0.00000875●●●●●●
474. 3116445 c.3187G>A p.V1063I missense 0.00000875●●●●●●
475. 3112411 c.3304-1G>T essential splice site 0.00000875●●●●●●
476. 3086156 c.4138-7C>G splice site 0.00000874●●●●●●
477. 3214963 c.259G>A p.A87T missense 0.00000873●●●●●●
478. 3112407 c.3307C>T p.R1103X nonsense 0.00000872●●●●●●
479. 3116479 c.3153G>C p.R1051S missense 0.00000872●●●●●●
480. 3215151 c.71G>A p.S24N missense 0.00000870●●●●●●
481. 3116472 c.3160_3161delTC p.Ser1054ThrfsTer38 frameshift 0.00000869●●●●●●
482. 3176039 c.1022+1G>T essential splice site 0.00000869●●●●●●
483. 3176039 c.1022+1G>A essential splice site 0.00000869●●●●●●
484. 3116442 c.3190C>T p.H1064Y missense 0.00000869●●●●●●
485. 3112406 c.3308G>C p.R1103P missense 0.00000868●●●●●●
486. 3116403 c.3229T>A p.L1077M missense 0.00000868●●●●●●
487. 3168924 c.1230A>C p.K410N missense 0.00000866●●●●●●
488. 3193952 c.295A>C p.T99P missense 0.00000866●●●●●●
489. 3086029 c.4251+7G>T splice site 0.00000864●●●●●●
490. 3193948 c.299A>G p.D100G missense 0.00000863●●●●●●
491. 3067331 c.4987G>A p.V1663M missense 0.00000862●●●●●●
492. 3089535 c.4069G>A p.G1357S missense 0.00000862●●●●●●
493. 3168919 c.1235A>G p.D412G missense 0.00000862●●●●●●
494. 3094278 c.3754G>T p.V1252F missense 0.00000861●●●●●●
495. 3129521 c.2507-4G>A splice site 0.00000861●●●●●●
496. 3129520 c.2507-3T>C splice site 0.00000860●●●●●●
497. 3100413 c.3587C>G p.T1196S missense 0.00000859●●●●●●
498. 3086150 c.4138-1G>A essential splice site 0.00000859●●●●●●
499. 3112397 c.3317A>T p.K1106M missense 0.00000859●●●●●●
500. 3151685 c.1843+7A>C splice site 0.00000859●●●●●●
501. 3215139 c.83A>G p.H28R missense 0.00000858●●●●●●
502. 3215140 c.82C>T p.H28Y missense 0.00000858●●●●●●
503. 3126712 c.2978A>G p.E993G missense 0.00000858●●●●●●
504. 3215139 c.83A>C p.H28P missense 0.00000858●●●●●●
505. 3188803 c.714G>T p.K238N missense 0.00000858●●●●●●
506. 3126803 c.2887G>A p.A963T missense 0.00000857●●●●●●
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763. 3189023 c.494A>G p.Y165C missense 0.00000828●●●●●●
764. 3151778 c.1757C>T p.A586V missense 0.00000828●●●●●●
765. 3134796 c.2236A>C p.I746L missense 0.00000828●●●●●●
766. 3090721 c.3944C>G p.T1315R missense 0.00000828●●●●●●
767. 3188925 c.592G>A p.A198T missense 0.00000828●●●●●●
768. 3090712 c.3953T>C p.F1318S missense 0.00000828●●●●●●
769. 3151784 c.1751T>C p.V584A missense 0.00000828●●●●●●
770. 3100158 c.3726A>C p.P1242P splice site 0.00000828●●●●●●
771. 3102572 c.3475G>A p.E1159K missense 0.00000828●●●●●●
772. 3102565 c.3482A>G p.D1161G missense 0.00000828●●●●●●
773. 3067470 c.4848C>G p.D1616E missense 0.00000828●●●●●●
774. 3134738 c.2294C>G p.A765G missense 0.00000828●●●●●●
775. 3129415 c.2609A>G p.Q870R missense 0.00000828●●●●●●
776. 3129334 c.2690G>A p.S897N missense 0.00000828●●●●●●
777. 3067360 c.4958G>C p.G1653A missense 0.00000828●●●●●●
778. 3067444 c.4874C>A p.A1625D missense 0.00000827●●●●●●
779. 3067438 c.4880G>A p.R1627K missense 0.00000827●●●●●●
780. 3067412 c.4906G>A p.V1636M missense 0.00000826●●●●●●
781. 3067384 c.4934G>T p.G1645V missense 0.00000826●●●●●●
782. 3067414 c.4904G>T p.G1635V missense 0.00000826●●●●●●
783. 3067408 c.4910G>T p.S1637I missense 0.00000826●●●●●●
784. 3067415 c.4903G>T p.G1635C missense 0.00000826●●●●●●
785. 3067400 c.4918G>T p.D1640Y 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.