MYBPC3 non-truncating variants in ExAC

MYBPC3 gene summary
MYBPC3 variants in HCM, DCM

The table below lists the MYBPC3 non-truncating variants found in the ExAC population database with a mean allelic frequency (MAF) less than 0.0001, classified for this study as a rare variant. 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. 47372979 c.103C>T p.R35W missense 0.00005626●●●●●●
2. 47372859 c.223G>A p.D75N missense 0.00009129●●●●●●
3. 47371450 c.529C>T p.R177C missense 0.00006270●●●●●●
4. 47371447 c.532G>A p.V178M missense 0.00002045●●●●●●
5. 47371422 c.557C>T p.P186L missense 0.00004764●●●●●●
6. 47371375 c.604A>C p.K202Q missense 0.00004496●●●●●●
7. 47370092 c.655G>T p.V219F missense 0.00001064●●●●●●
8. 47370065 c.682G>A p.D228N missense 0.00005694●●●●●●
9. 47369975 c.772G>A p.E258K missense 0.00003903●●●●●●
10. 47369415 c.814C>T p.R272C missense 0.00008379●●●●●●
11. 47369411 c.818G>A p.R273H missense 0.00004268●●●●●●
12. 47369211 c.842G>A p.R281Q missense 0.00006987●●●●●●
13. 47369023 c.859C>T p.H287Y missense 0.00004162●●●●●●
14. 47365119 c.1147C>G p.L383V missense 0.00008857●●●●●●
15. 47364677 c.1246G>A p.G416S missense 0.00002898●●●●●●
16. 47364465 c.1373G>A p.R458H missense 0.00004424●●●●●●
17. 47364429 c.1409G>A p.R470Q missense 0.00000862●●●●●●
18. 47364269 c.1484G>A p.R495Q missense 0.00000829●●●●●●
19. 47364249 c.1504C>T p.R502W missense 0.00002486●●●●●●
20. 47364162 c.1591G>C p.G531R missense 0.00001732●●●●●●
21. 47364129 c.1624G>C p.E542Q missense 0.00002485●●●●●●
22. 47363699 c.1633C>A p.L545M missense 0.00003388●●●●●●
23. 47363668 c.1664T>C p.M555T missense 0.00002529●●●●●●
24. 47362758 c.1828G>C p.D610H missense 0.00005827●●●●●●
25. 47361267 c.2002C>T p.R668C missense 0.00001680●●●●●●
26. 47361206 c.2063C>A p.T688K missense 0.00001872●●●●●●
27. 47360946 c.2077G>T p.A693S missense 0.00003313●●●●●●
28. 47360203 c.2176C>T p.R726C missense 0.00003633●●●●●●
29. 47360182 c.2197C>T p.R733C missense 0.00008557●●●●●●
30. 47360181 c.2198G>A p.R733H missense 0.00003404●●●●●●
31. 47360110 c.2269G>A p.V757M missense 0.00006633●●●●●●
32. 47360071 c.2308G>A p.D770N missense 0.00000830●●●●●●
33. 47359343 c.2311G>A p.V771M missense 0.00005661●●●●●●
34. 47359115 c.2429G>A p.R810H missense 0.00003319●●●●●●
35. 47359085 c.2459G>A p.R820Q missense 0.00001657●●●●●●
36. 47359086 c.2458C>T p.R820W missense 0.00000829●●●●●●
37. 47359044 c.2500C>T p.R834W missense 0.00001658●●●●●●
38. 47359040 c.2504G>T p.R835L missense 0.00007462●●●●●●
39. 47358992 c.2552C>T p.A851V missense 0.00006771●●●●●●
40. 47357511 c.2654C>T p.T885M missense 0.00002217●●●●●●
41. 47356715 c.2783C>T p.S928L missense 0.00000840●●●●●●
42. 47356691 c.2807C>T p.T936M missense 0.00005891●●●●●●
43. 47356625 c.2873C>T p.T958I missense 0.00006506●●●●●●
44. 47356616 c.2882C>T p.P961L missense 0.00004813●●●●●●
45. 47355293 c.3005G>A p.R1002Q missense 0.00004654●●●●●●
46. 47355249 c.3049G>A p.E1017K missense 0.00008516●●●●●●
47. 47355233 c.3065G>C p.R1022P missense 0.00002520●●●●●●
48. 47355161 c.3137C>T p.T1046M missense 0.00005814●●●●●●
49. 47355156 c.3142C>T p.R1048C missense 0.00001662●●●●●●
50. 47354482 c.3373G>A p.V1125M missense 0.00002276●●●●●●
51. 47354175 c.3569G>A p.R1190H missense 0.00005870●●●●●●
52. 47354164 c.3580G>A p.A1194T missense 0.00000835●●●●●●
53. 47353695 c.3742G>A p.G1248R missense 0.00003324●●●●●●
54. 47353674 c.3763G>A p.A1255T missense 0.00007504●●●●●●
55. 47372831 c.251G>A p.G84D missense 0.00003832●●●●●●
56. 47370034 c.713G>A p.R238H missense 0.00007431●●●●●●
57. 47365113 c.1153G>A p.V385M missense 0.00001011●●●●●●
58. 47364614 c.1309G>A p.V437M missense 0.00000911●●●●●●
59. 47364162 c.1591G>A p.G531R missense 0.00001732●●●●●●
60. 47361309 c.1960C>T p.R654C missense 0.00000829●●●●●●
61. 47361284 c.1985T>C p.V662A missense 0.00000831●●●●●●
62. 47357547 c.2618C>T p.P873L missense 0.00003119●●●●●●
63. 47356683 c.2815C>T p.R939W missense 0.00003379●●●●●●
64. 47354789 c.3286G>A p.E1096K missense 0.00003820●●●●●●
65. 47364604 c.1319G>A p.G440D missense 0.00000902●●●●●●
66. 47359005 c.2539T>C p.Y847H missense 0.00000834●●●●●●
67. 47360169 c.2210C>T p.T737M missense 0.00005037●●●●●●
68. 47355558 c.2909G>A p.R970Q missense 0.00003251●●●●●●
69. 47356727 c.2771C>T p.T924I missense 0.00009262●●●●●●
70. 47360209 c.2170C>T p.R724W missense 0.00001900●●●●●●
71. 47363543 c.1789C>T p.R597W missense 0.00003821●●●●●●
72. 47367778 c.1070G>A p.R357H missense 0.00001671●●●●●●
73. 47353650 c.3787C>T p.R1263W missense 0.00003362●●●●●●
74. 47353769 c.3668A>G p.E1223G missense 0.00000829●●●●●●
75. 47354385 c.3470C>T p.P1157L missense 0.00009378●●●●●●
76. 47354392 c.3463A>G p.K1155E missense 0.00001323●●●●●●
77. 47354413 c.3442A>G p.S1148G missense 0.00001286●●●●●●
78. 47354440 c.3415G>A p.V1139I missense 0.00008754●●●●●●
79. 47354443 c.3412C>T p.R1138C missense 0.00003719●●●●●●
80. 47354497 c.3358C>T p.R1120C missense 0.00003386●●●●●●
81. 47354509 c.3346T>G p.L1116V missense 0.00001136●●●●●●
82. 47354858 c.3217C>T p.R1073W missense 0.00004906●●●●●●
83. 47355186 c.3112G>A p.V1038M missense 0.00001660●●●●●●
84. 47355191 c.3107G>A p.R1036H missense 0.00005813●●●●●●
85. 47355246 c.3052G>C p.E1018Q missense 0.00001699●●●●●●
86. 47357482 c.2683C>T p.R895C missense 0.00004034●●●●●●
87. 47359026 c.2518G>A p.V840M missense 0.00001660●●●●●●
88. 47361213 c.2056G>C p.A686P missense 0.00001637●●●●●●
89. 47362766 c.1820C>T p.T607I missense 0.00002017●●●●●●
90. 47362770 c.1816G>A p.V606I missense 0.00006166●●●●●●
91. 47364152 c.1601C>T p.A534V missense 0.00004571●●●●●●
92. 47364188 c.1565C>T p.A522V missense 0.00002494●●●●●●
93. 47364199 c.1554G>A p.M518I missense 0.00001659●●●●●●
94. 47364393 c.1445C>T p.A482V missense 0.00004233●●●●●●
95. 47364466 c.1372C>T p.R458C missense 0.00005314●●●●●●
96. 47364629 c.1294G>A p.A432T missense 0.00003756●●●●●●
97. 47368187 c.917G>A p.R306Q missense 0.00003694●●●●●●
98. 47369430 c.799C>G p.L267V missense 0.00008028●●●●●●
99. 47369995 c.752A>T p.N251I missense 0.00005201●●●●●●
100. 47371381 c.598A>G p.S200G missense 0.00003600●●●●●●
101. 47371426 c.553A>C p.K185Q missense 0.00001904●●●●●●
102. 47371467 c.512G>A p.S171N missense 0.00001288●●●●●●
103. 47372895 c.187C>T p.R63W missense 0.00007739●●●●●●
104. 47372934 c.148A>G p.S50G missense 0.00003887●●●●●●
105. 47372951 c.131G>A p.R44H missense 0.00003633●●●●●●
106. 47372975 c.107C>A p.A36E missense 0.00003394●●●●●●
107. 47373008 c.74G>A p.S25N missense 0.00005715●●●●●●
108. 47372876 c.206G>A p.R69Q missense 0.00002494●●●●●●
109. 47354175 c.3569G>T p.R1190L missense 0.00000839●●●●●●
110. 47356665 c.2833C>T p.R945W missense 0.00000857●●●●●●
111. 47364589 c.1334C>T p.T445M missense 0.00000890●●●●●●
112. 47356670 c.2828G>A p.R943Q missense 0.00002554●●●●●●
113. 47355201 c.3097C>T p.R1033W missense 0.00000831●●●●●●
114. 47367892 c.956A>C p.E319A missense 0.00007891●●●●●●
115. 47359001 c.2543C>T p.A848V missense 0.00000836●●●●●●
116. 47371628 c.442G>A p.G148R missense 0.00004201●●●●●●
117. 47367854 c.994G>A p.E332K missense 0.00000970●●●●●●
118. 47372961 c.121C>T p.R41C missense 0.00003493●●●●●●
119. 47353722 c.3715G>A p.E1239K missense 0.00001659●●●●●●
120. 47354759 c.3316G>A p.D1106N missense 0.00006115●●●●●●
121. 47371589 c.481C>A p.P161T missense 0.00004148●●●●●●
122. 47353754 c.3683G>A p.R1228H missense 0.00001659●●●●●●
123. 47354413 c.3442A>C p.S1148R missense 0.00001286●●●●●●
124. 47355195 c.3103G>A p.A1035T missense 0.00006646●●●●●●
125. 47356676 c.2822T>C p.L941P missense 0.00000848●●●●●●
126. 47359032 c.2512G>C p.E838Q missense 0.00002489●●●●●●
127. 47359043 c.2501G>A p.R834Q missense 0.00002487●●●●●●
128. 47365154 c.1112C>T p.P371L missense 0.00002829●●●●●●
129. 47372894 c.188G>A p.R63Q missense 0.00003933●●●●●●
130. 47372931 c.151G>A p.A51T missense 0.00001332●●●●●●
131. 47372952 c.130C>T p.R44C missense 0.00002413●●●●●●
132. 47372978 c.104G>A p.R35Q missense 0.00007909●●●●●●
133. 47372991 c.91G>A p.A31T missense 0.00001112●●●●●●
134. 47353625 c.3812G>A p.R1271Q missense 0.00000858●●●●●●
135. 47353637 c.3800G>A p.R1267H missense 0.00004239●●●●●●
136. 47353638 c.3799C>T p.R1267C missense 0.00000846●●●●●●
137. 47353646 c.3791G>A p.C1264Y missense 0.00000842●●●●●●
138. 47353649 c.3788G>A p.R1263Q missense 0.00000841●●●●●●
139. 47353656 c.3781G>A p.E1261K missense 0.00001676●●●●●●
140. 47353660 c.3777G>C p.Q1259H missense 0.00000836●●●●●●
141. 47353670 c.3767C>T p.T1256I missense 0.00000834●●●●●●
142. 47353687 c.3750C>G p.I1250M missense 0.00001663●●●●●●
143. 47353761 c.3676C>T p.R1226C missense 0.00005805●●●●●●
144. 47353767 c.3670G>A p.D1224N missense 0.00000829●●●●●●
145. 47353770 c.3667G>A p.E1223K missense 0.00000829●●●●●●
146. 47354124 c.3620G>T p.S1207I missense 0.00000840●●●●●●
147. 47354130 c.3614G>A p.R1205Q missense 0.00001674●●●●●●
148. 47354131 c.3613C>T p.R1205W missense 0.00001673●●●●●●
149. 47354163 c.3581C>T p.A1194V missense 0.00008342●●●●●●
150. 47354172 c.3572C>T p.S1191L missense 0.00001675●●●●●●
151. 47354176 c.3568C>T p.R1190C missense 0.00000841●●●●●●
152. 47354221 c.3523C>G p.L1175V missense 0.00001009●●●●●●
153. 47354232 c.3512A>G p.N1171S missense 0.00002141●●●●●●
154. 47354394 c.3461C>T p.T1154I missense 0.00001321●●●●●●
155. 47354398 c.3457A>T p.T1153S missense 0.00001315●●●●●●
156. 47354401 c.3454G>T p.A1152S missense 0.00001318●●●●●●
157. 47354403 c.3452C>T p.A1151V missense 0.00007889●●●●●●
158. 47354406 c.3449G>A p.R1150K missense 0.00001298●●●●●●
159. 47354472 c.3383A>C p.E1128A missense 0.00001151●●●●●●
160. 47354482 c.3373G>T p.V1125L missense 0.00001138●●●●●●
161. 47354484 c.3371G>A p.C1124Y missense 0.00001133●●●●●●
162. 47354494 c.3361C>T p.R1121C missense 0.00002264●●●●●●
163. 47354751 c.3324G>C p.K1108N missense 0.00001512●●●●●●
164. 47354752 c.3323A>C p.K1108T missense 0.00004531●●●●●●
165. 47354776 c.3299A>T p.Y1100F missense 0.00001566●●●●●●
166. 47354791 c.3284C>T p.T1095M missense 0.00005818●●●●●●
167. 47354798 c.3277G>T p.G1093C missense 0.00002053●●●●●●
168. 47354801 c.3274G>A p.V1092I missense 0.00008328●●●●●●
169. 47354833 c.3242A>C p.N1081T missense 0.00002220●●●●●●
170. 47354843 c.3232T>C p.W1078R missense 0.00002276●●●●●●
171. 47354846 c.3229G>T p.A1077S missense 0.00002307●●●●●●
172. 47354852 c.3223A>G p.T1075A missense 0.00004691●●●●●●
173. 47355123 c.3175G>C p.V1059L missense 0.00000835●●●●●●
174. 47355128 c.3170C>T p.T1057M missense 0.00000834●●●●●●
175. 47355144 c.3154A>G p.M1052V missense 0.00003327●●●●●●
176. 47355146 c.3152A>G p.N1051S missense 0.00000832●●●●●●
177. 47355150 c.3148G>A p.E1050K missense 0.00008312●●●●●●
178. 47355155 c.3143G>A p.R1048H missense 0.00001662●●●●●●
179. 47355171 c.3127T>A p.Y1043N missense 0.00000830●●●●●●
180. 47355171 c.3127T>C p.Y1043H missense 0.00000830●●●●●●
181. 47355176 c.3122G>A p.G1041D missense 0.00000830●●●●●●
182. 47355185 c.3113T>A p.V1038E missense 0.00001660●●●●●●
183. 47355188 c.3110G>A p.R1037H missense 0.00000830●●●●●●
184. 47355189 c.3109C>T p.R1037C missense 0.00001661●●●●●●
185. 47355189 c.3109C>G p.R1037G missense 0.00000830●●●●●●
186. 47355219 c.3079G>C p.D1027H missense 0.00000834●●●●●●
187. 47355226 c.3072C>A p.S1024R missense 0.00002509●●●●●●
188. 47355231 c.3067A>G p.N1023D missense 0.00000838●●●●●●
189. 47355234 c.3064C>T p.R1022C missense 0.00000840●●●●●●
190. 47355255 c.3043G>A p.A1015T missense 0.00000859●●●●●●
191. 47355267 c.3031G>A p.G1011R missense 0.00000873●●●●●●
192. 47355281 c.3017C>A p.T1006N missense 0.00000891●●●●●●
193. 47355483 c.2984T>A p.I995N missense 0.00003507●●●●●●
194. 47355505 c.2962G>A p.G988R missense 0.00003264●●●●●●
195. 47355529 c.2938C>T p.R980C missense 0.00006245●●●●●●
196. 47355552 c.2915G>A p.R972Q missense 0.00006566●●●●●●
197. 47355559 c.2908C>T p.R970W missense 0.00006633●●●●●●
198. 47356604 c.2894A>G p.Q965R missense 0.00001016●●●●●●
199. 47356607 c.2891T>C p.V964A missense 0.00001001●●●●●●
200. 47356614 c.2884G>C p.V962L missense 0.00001953●●●●●●
201. 47356622 c.2876C>T p.T959M missense 0.00000939●●●●●●
202. 47356657 c.2841C>A p.H947Q missense 0.00000865●●●●●●
203. 47356658 c.2840A>G p.H947R missense 0.00000864●●●●●●
204. 47356686 c.2812G>T p.A938S missense 0.00000843●●●●●●
205. 47356698 c.2800C>G p.L934V missense 0.00000840●●●●●●
206. 47356733 c.2765G>A p.G922E missense 0.00002534●●●●●●
207. 47357442 c.2723A>G p.Y908C missense 0.00006277●●●●●●
208. 47357463 c.2702T>C p.L901P missense 0.00005258●●●●●●
209. 47357472 c.2693C>T p.A898V missense 0.00004925●●●●●●
210. 47357493 c.2672G>A p.R891Q missense 0.00009653●●●●●●
211. 47357494 c.2671C>T p.R891W missense 0.00003138●●●●●●
212. 47357497 c.2668T>G p.W890G missense 0.00002842●●●●●●
213. 47357524 c.2641G>A p.V881I missense 0.00001863●●●●●●
214. 47357541 c.2624A>T p.H875L missense 0.00001586●●●●●●
215. 47357544 c.2621C>T p.T874I missense 0.00003120●●●●●●
216. 47358942 c.2602G>A p.G868S missense 0.00003676●●●●●●
217. 47358945 c.2599A>G p.I867V missense 0.00000913●●●●●●
218. 47358968 c.2576C>T p.P859L missense 0.00000879●●●●●●
219. 47358974 c.2570C>T p.P857L missense 0.00000870●●●●●●
220. 47358976 c.2568G>T p.R856S missense 0.00000868●●●●●●
221. 47358982 c.2562G>A p.M854I missense 0.00003438●●●●●●
222. 47358984 c.2560A>T p.M854L missense 0.00000856●●●●●●
223. 47358987 c.2557G>A p.G853S missense 0.00000853●●●●●●
224. 47358987 c.2557G>T p.G853C missense 0.00000853●●●●●●
225. 47359002 c.2542G>A p.A848T missense 0.00000836●●●●●●
226. 47359008 c.2536G>A p.V846I missense 0.00000833●●●●●●
227. 47359040 c.2504G>A p.R835H missense 0.00000829●●●●●●
228. 47359041 c.2503C>T p.R835C missense 0.00002487●●●●●●
229. 47359041 c.2503C>A p.R835S missense 0.00000829●●●●●●
230. 47359053 c.2491C>T p.H831Y missense 0.00000829●●●●●●
231. 47359055 c.2489G>A p.S830N missense 0.00000829●●●●●●
232. 47359062 c.2482G>C p.E828Q missense 0.00000829●●●●●●
233. 47359074 c.2470G>A p.D824N missense 0.00000829●●●●●●
234. 47359094 c.2450G>C p.R817P missense 0.00000829●●●●●●
235. 47359094 c.2450G>A p.R817Q missense 0.00001657●●●●●●
236. 47359105 c.2439G>C p.K813N missense 0.00001658●●●●●●
237. 47359118 c.2426A>G p.E809G missense 0.00000830●●●●●●
238. 47359256 c.2398G>A p.G800R missense 0.00005353●●●●●●
239. 47359309 c.2345A>G p.N782S missense 0.00004741●●●●●●
240. 47359315 c.2339T>G p.I780S missense 0.00004860●●●●●●
241. 47360079 c.2300A>G p.K767R missense 0.00001659●●●●●●
242. 47360101 c.2278G>C p.D760H missense 0.00003316●●●●●●
243. 47360104 c.2275G>A p.E759K missense 0.00002487●●●●●●
244. 47360130 c.2249C>T p.T750M missense 0.00002489●●●●●●
245. 47360137 c.2242G>A p.V748I missense 0.00002490●●●●●●
246. 47360179 c.2200A>G p.S734G missense 0.00002548●●●●●●
247. 47360181 c.2198G>T p.R733L missense 0.00002553●●●●●●
248. 47360190 c.2189C>T p.T730I missense 0.00000866●●●●●●
249. 47360191 c.2188A>C p.T730P missense 0.00000872●●●●●●
250. 47360200 c.2179G>A p.V727M missense 0.00003605●●●●●●
251. 47360202 c.2177G>A p.R726H missense 0.00003627●●●●●●
252. 47360215 c.2164G>A p.E722K missense 0.00002917●●●●●●
253. 47360215 c.2164G>C p.E722Q missense 0.00000972●●●●●●
254. 47360218 c.2161A>T p.T721S missense 0.00000983●●●●●●
255. 47360888 c.2135T>C p.V712A missense 0.00000828●●●●●●
256. 47360889 c.2134G>T p.V712L missense 0.00001656●●●●●●
257. 47360904 c.2119G>A p.D707N missense 0.00001656●●●●●●
258. 47360924 c.2099A>T p.D700V missense 0.00001656●●●●●●
259. 47361213 c.2056G>A p.A686T missense 0.00001637●●●●●●
260. 47361228 c.2041G>A p.V681M missense 0.00001248●●●●●●
261. 47361236 c.2033C>A p.A678D missense 0.00002214●●●●●●
262. 47361251 c.2018T>C p.I673T missense 0.00000909●●●●●●
263. 47361270 c.1999C>A p.L667I missense 0.00000836●●●●●●
264. 47361291 c.1978G>T p.V660L missense 0.00000830●●●●●●
265. 47361296 c.1973C>T p.T658I missense 0.00001659●●●●●●
266. 47361314 c.1955C>G p.P652R missense 0.00000829●●●●●●
267. 47361327 c.1942C>T p.H648Y missense 0.00000830●●●●●●
268. 47361331 c.1938G>C p.K646N missense 0.00001660●●●●●●
269. 47362562 c.1919C>T p.P640L missense 0.00005426●●●●●●
270. 47362697 c.1889A>T p.H630L missense 0.00003963●●●●●●
271. 47362715 c.1871A>G p.N624S missense 0.00003716●●●●●●
272. 47362719 c.1867T>A p.C623S missense 0.00001835●●●●●●
273. 47362760 c.1826C>T p.A609V missense 0.00003924●●●●●●
274. 47362763 c.1823C>G p.P608R missense 0.00005938●●●●●●
275. 47362777 c.1809T>G p.I603M missense 0.00004267●●●●●●
276. 47363554 c.1778C>T p.S593F missense 0.00003456●●●●●●
277. 47363559 c.1773G>T p.K591N missense 0.00003300●●●●●●
278. 47363606 c.1726G>A p.V576M missense 0.00001222●●●●●●
279. 47363612 c.1720C>T p.R574W missense 0.00005411●●●●●●
280. 47363647 c.1685C>T p.A562V missense 0.00000860●●●●●●
281. 47363654 c.1678G>C p.D560H missense 0.00000852●●●●●●
282. 47363660 c.1672G>A p.A558T missense 0.00000848●●●●●●
283. 47363693 c.1639G>A p.V547M missense 0.00000845●●●●●●
284. 47364130 c.1623G>C p.Q541H missense 0.00001221●●●●●●
285. 47364138 c.1615A>G p.I539V missense 0.00006519●●●●●●
286. 47364154 c.1599G>C p.Q533H missense 0.00000900●●●●●●
287. 47364158 c.1595G>A p.G532D missense 0.00000882●●●●●●
288. 47364164 c.1589G>A p.S530N missense 0.00000854●●●●●●
289. 47364173 c.1580T>C p.L527P missense 0.00000839●●●●●●
290. 47364207 c.1546G>A p.E516K missense 0.00004145●●●●●●
291. 47364213 c.1540A>G p.I514V missense 0.00000829●●●●●●
292. 47364254 c.1499A>C p.K500T missense 0.00000829●●●●●●
293. 47364260 c.1493C>A p.T498N missense 0.00000829●●●●●●
294. 47364266 c.1487A>G p.E496G missense 0.00000829●●●●●●
295. 47364281 c.1472T>G p.V491G missense 0.00001660●●●●●●
296. 47364282 c.1471G>A p.V491M missense 0.00005813●●●●●●
297. 47364284 c.1469G>A p.G490E missense 0.00000830●●●●●●
298. 47364294 c.1459C>A p.L487M missense 0.00000831●●●●●●
299. 47364396 c.1442G>A p.G481E missense 0.00000847●●●●●●
300. 47364405 c.1433C>T p.S478L missense 0.00001702●●●●●●
301. 47364415 c.1423T>C p.C475R missense 0.00000854●●●●●●
302. 47364433 c.1405C>G p.Q469E missense 0.00000863●●●●●●
303. 47364441 c.1397T>A p.M466K missense 0.00000867●●●●●●
304. 47364463 c.1375C>T p.P459S missense 0.00000882●●●●●●
305. 47364475 c.1363C>T p.L455F missense 0.00003567●●●●●●
306. 47364477 c.1361T>C p.V454A missense 0.00001780●●●●●●
307. 47364480 c.1358C>T p.P453L missense 0.00000895●●●●●●
308. 47364481 c.1357C>G p.P453A missense 0.00000895●●●●●●
309. 47364607 c.1316G>A p.G439D missense 0.00001808●●●●●●
310. 47364614 c.1309G>T p.V437L missense 0.00001822●●●●●●
311. 47364632 c.1291G>A p.D431N missense 0.00002811●●●●●●
312. 47364667 c.1256G>A p.R419H missense 0.00001918●●●●●●
313. 47364667 c.1256G>C p.R419P missense 0.00000959●●●●●●
314. 47364668 c.1255C>T p.R419C missense 0.00000959●●●●●●
315. 47365055 c.1211A>C p.Q404P missense 0.00002032●●●●●●
316. 47365086 c.1180G>A p.V394I missense 0.00001298●●●●●●
317. 47365095 c.1171G>T p.D391Y missense 0.00001152●●●●●●
318. 47365121 c.1145G>A p.R382Q missense 0.00000975●●●●●●
319. 47365133 c.1133G>C p.G378A missense 0.00000950●●●●●●
320. 47365143 c.1123G>A p.V375M missense 0.00000939●●●●●●
321. 47365146 c.1120C>A p.Q374K missense 0.00000938●●●●●●
322. 47365165 c.1101G>T p.K367N missense 0.00000955●●●●●●
323. 47365166 c.1100A>G p.K367R missense 0.00000956●●●●●●
324. 47365175 c.1091C>T p.A364V missense 0.00006786●●●●●●
325. 47367764 c.1084A>G p.S362G missense 0.00000836●●●●●●
326. 47367774 c.1074T>A p.D358E missense 0.00001671●●●●●●
327. 47367776 c.1072G>A p.D358N missense 0.00000835●●●●●●
328. 47367809 c.1039G>A p.G347S missense 0.00001688●●●●●●
329. 47367827 c.1021G>A p.G341S missense 0.00002584●●●●●●
330. 47367839 c.1009G>A p.A337T missense 0.00000899●●●●●●
331. 47367842 c.1006A>T p.I336F missense 0.00000905●●●●●●
332. 47367845 c.1003C>T p.R335C missense 0.00001848●●●●●●
333. 47367872 c.976C>T p.R326W missense 0.00002182●●●●●●
334. 47367878 c.970A>T p.I324F missense 0.00001153●●●●●●
335. 47367887 c.961G>C p.V321L missense 0.00001250●●●●●●
336. 47367888 c.960C>G p.D320E missense 0.00001278●●●●●●
337. 47367899 c.949G>A p.A317T missense 0.00001421●●●●●●
338. 47368188 c.916C>T p.R306W missense 0.00000925●●●●●●
339. 47368996 c.886A>G p.S296G missense 0.00002340●●●●●●
340. 47369208 c.845G>A p.R282Q missense 0.00003483●●●●●●
341. 47369408 c.821C>T p.T274M missense 0.00008578●●●●●●
342. 47369414 c.815G>A p.R272H missense 0.00004210●●●●●●
343. 47369424 c.805T>C p.S269P missense 0.00004076●●●●●●
344. 47370001 c.746G>A p.C249Y missense 0.00001009●●●●●●
345. 47370002 c.745T>C p.C249R missense 0.00001003●●●●●●
346. 47370035 c.712C>T p.R238C missense 0.00000925●●●●●●
347. 47370047 c.700A>G p.T234A missense 0.00001838●●●●●●
348. 47370063 c.684T>G p.D228E missense 0.00007543●●●●●●
349. 47370088 c.659A>G p.Y220C missense 0.00004178●●●●●●
350. 47371335 c.644G>A p.R215H missense 0.00001822●●●●●●
351. 47371339 c.640G>A p.D214N missense 0.00003634●●●●●●
352. 47371345 c.634A>G p.S212G missense 0.00000903●●●●●●
353. 47371348 c.631G>A p.D211N missense 0.00000903●●●●●●
354. 47371406 c.573G>T p.W191C missense 0.00000923●●●●●●
355. 47371411 c.568A>G p.K190E missense 0.00000928●●●●●●
356. 47371425 c.554A>G p.K185R missense 0.00001905●●●●●●
357. 47371438 c.541G>A p.A181T missense 0.00001981●●●●●●
358. 47371441 c.538G>A p.G180S missense 0.00000996●●●●●●
359. 47371452 c.527C>G p.A176G missense 0.00001044●●●●●●
360. 47371452 c.527C>T p.A176V missense 0.00001044●●●●●●
361. 47371567 c.503T>C p.V168A missense 0.00008420●●●●●●
362. 47371619 c.451G>A p.D151N missense 0.00004106●●●●●●
363. 47371624 c.446C>A p.A149D missense 0.00004162●●●●●●
364. 47371633 c.437C>T p.T146I missense 0.00008443●●●●●●
365. 47371636 c.434C>A p.P145H missense 0.00004276●●●●●●
366. 47372095 c.364G>A p.A122T missense 0.00003700●●●●●●
367. 47372795 c.287A>G p.E96G missense 0.00005641●●●●●●
368. 47372844 c.238G>A p.A80T missense 0.00003389●●●●●●
369. 47372888 c.194C>T p.T65M missense 0.00004280●●●●●●
370. 47372916 c.166G>A p.G56S missense 0.00001500●●●●●●
371. 47372930 c.152C>T p.A51V missense 0.00001337●●●●●●
372. 47372931 c.151G>T p.A51S missense 0.00002664●●●●●●
373. 47372937 c.145A>T p.I49F missense 0.00002551●●●●●●
374. 47372949 c.133G>A p.G45R missense 0.00002442●●●●●●
375. 47372960 c.122G>A p.R41H missense 0.00003504●●●●●●
376. 47372964 c.118G>A p.V40M missense 0.00001150●●●●●●
377. 47372965 c.117G>T p.K39N missense 0.00001148●●●●●●
378. 47372988 c.94G>A p.E32K missense 0.00007818●●●●●●
379. 47372988 c.94G>C p.E32Q missense 0.00001117●●●●●●
380. 47372994 c.88G>A p.E30K missense 0.00001113●●●●●●
381. 47373009 c.73A>T p.S25C missense 0.00002279●●●●●●
382. 47373015 c.67G>A p.A23T missense 0.00002310●●●●●●
383. 47373032 c.50G>T p.R17L missense 0.00002383●●●●●●
384. 47373033 c.49C>T p.R17W missense 0.00002399●●●●●●
385. 47373036 c.46C>T p.P16S missense 0.00002408●●●●●●
386. 47373041 c.41A>G p.K14R missense 0.00001212●●●●●●
387. 47374188 c.11C>T p.P4L missense 0.00003343●●●●●●
388. 47374196 c.3G>A p.Met1? missense 0.00000838●●●●●●
389. 47364210 c.1543_1545delAAC inframe 0.00000829●●●●●●
390. 47354226 c.3518_3520delAGG p.Lys1173_Ala1174delinsThr inframe 0.00001015●●●●●●
391. 47354520 c.3335_3337dupGGT p.Trp1112dup inframe 0.00002298●●●●●●
392. 47354752 c.3323_3325delAGA p.Lys1108del inframe 0.00001513●●●●●●
393. 47359101 c.2443_2443insCGA p.Lys814_Ser815insThr inframe 0.00000830●●●●●●
394. 47364697 c.1227-1_1228dupGGT p.Lys409_Tyr410insTrp inframe 0.00000977●●●●●●
395. 47367766 c.1082_1084delAGA p.Lys361del inframe 0.00000836●●●●●●
396. 47372936 c.146_148delTCA p.Ile49del inframe 0.00003922●●●●●●

* 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.