FHOD3 variants in ExAC

FHOD3 gene summary
FHOD3 variants in

The table below lists the FHOD3 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. 34324091 c.3451G>A p.V1151I missense 0.34153078●●●●●●
2. 34289364 c.2008+10G>A splice site 0.13636444●●●●●●
3. 34273279 c.1604C>G p.A535G missense 0.13577449●●●●●●
4. 34156497 c.595A>G p.I199V missense 0.03253300●●●●●●
5. 34289142 c.1796A>G p.Q599R missense 0.02868527●●●●●●
6. 34261459 c.1371_1372delAG p.Arg461AlafsTer48 frameshift 0.02461097●●●●●●
7. 34289285 c.1939G>T p.V647F missense 0.01353728●●●●●●
8. 34261511 c.1423C>T p.R475W missense 0.01020746●●●●●●
9. 34349252 c.4100G>C p.G1367A missense 0.00465017●●●●●●
10. 34273314 c.1639C>T p.P547S missense 0.00356917●●●●●●
11. 34349354 c.4202G>A p.R1401K missense 0.00264223●●●●●●
12. 34298542 c.2756G>A p.R919Q missense 0.00250672●●●●●●
13. 34297820 c.2034_2039delTGCAGG p.Ala679_Gly680del inframe 0.00204517●●●●●●
14. 34261473 c.1385G>A p.R462Q missense 0.00150150●●●●●●
15. 34289081 c.1735G>A p.E579K missense 0.00128490●●●●●●
16. 34261542 c.1445+9G>A splice site 0.00116724●●●●●●
17. 34238055 c.1214A>G p.N405S missense 0.00105466●●●●●●
18. 34349311 c.4159G>A p.V1387I missense 0.00093917●●●●●●
19. 34298406 c.2620G>A p.V874I missense 0.00093439●●●●●●
20. 34174816 c.673G>A p.A225T missense 0.00073389●●●●●●
21. 34205470 c.958-4C>T splice site 0.00065657●●●●●●
22. 34205520 c.1004C>G p.P335R missense 0.00060770●●●●●●
23. 34261475 c.1387C>T p.R463W missense 0.00056128●●●●●●
24. 34156465 c.563G>A p.R188H missense 0.00055216●●●●●●
25. 34320704 c.3137G>A p.S1046N missense 0.00043693●●●●●●
26. 34238099 c.1258C>T p.P420S missense 0.00043685●●●●●●
27. 34340640 c.3970G>A p.A1324T missense 0.00039957●●●●●●
28. 34205580 c.1064G>A p.R355Q missense 0.00033416●●●●●●
29. 33877878 c.80G>C p.R27P missense 0.00033144●●●●●●
30. 34238130 c.1289C>G p.P430R missense 0.00032966●●●●●●
31. 34298059 c.2273A>G p.N758S missense 0.00029541●●●●●●
32. 34191909 c.814-6T>C splice site 0.00022620●●●●●●
33. 34205532 c.1016G>A p.R339Q missense 0.00022460●●●●●●
34. 34205655 c.1139C>T p.P380L missense 0.00022299●●●●●●
35. 34267092 c.1447C>G p.R483G missense 0.00019668●●●●●●
36. 34182694 c.776C>T p.T259M missense 0.00016473●●●●●●
37. 33935574 c.238C>T p.R80W missense 0.00014844●●●●●●
38. 34340604 c.3934C>G p.P1312A missense 0.00013815●●●●●●
39. 34205582 c.1066G>A p.G356S missense 0.00012513●●●●●●
40. 33935575 c.239G>A p.R80Q missense 0.00012371●●●●●●
41. 34156464 c.562C>T p.R188C missense 0.00012363●●●●●●
42. 34273313 c.1638C>G p.S546R missense 0.00011675●●●●●●
43. 34273345 c.1670C>T p.T557M missense 0.00010987●●●●●●
44. 34289205 c.1859C>T p.P620L missense 0.00010738●●●●●●
45. 34205525 c.1009G>A p.G337R missense 0.00009943●●●●●●
46. 34298521 c.2735G>A p.R912H missense 0.00009903●●●●●●
47. 34298575 c.2789G>A p.R930H missense 0.00009890●●●●●●
48. 34298074 c.2288A>G p.K763R missense 0.00009548●●●●●●
49. 34273240 c.1565G>A p.R522Q missense 0.00009500●●●●●●
50. 34205474 c.958G>T p.V320L missense 0.00009239●●●●●●
51. 34298374 c.2588C>T p.P863L missense 0.00009088●●●●●●
52. 34349270 c.4118A>G p.N1373S missense 0.00009064●●●●●●
53. 34238070 c.1229C>A p.S410Y missense 0.00009063●●●●●●
54. 34205537 c.1021C>G p.R341G missense 0.00008933●●●●●●
55. 34273228 c.1553G>A p.R518Q missense 0.00008706●●●●●●
56. 34174789 c.646G>A p.V216I missense 0.00008427●●●●●●
57. 34298143 c.2357A>G p.N786S missense 0.00008415●●●●●●
58. 34320811 c.3234+10C>T splice site 0.00008375●●●●●●
59. 34298176 c.2390C>T p.P797L missense 0.00008262●●●●●●
60. 34310709 c.2993C>T p.T998M missense 0.00008237●●●●●●
61. 34298140 c.2354C>T p.P785L missense 0.00007595●●●●●●
62. 34298164 c.2378C>T p.A793V missense 0.00007486●●●●●●
63. 34205683 c.1167G>T p.K389N missense 0.00007464●●●●●●
64. 34205640 c.1124C>T p.S375L missense 0.00007435●●●●●●
65. 34298574 c.2788C>T p.R930C missense 0.00007418●●●●●●
66. 34205526 c.1010G>A p.G337E missense 0.00007228●●●●●●
67. 34267086 c.1446-5A>G splice site 0.00007056●●●●●●
68. 34174753 c.610C>T p.R204C missense 0.00006982●●●●●●
69. 34081919 c.362G>A p.R121Q missense 0.00006748●●●●●●
70. 34298257 c.2471A>G p.D824G missense 0.00006643●●●●●●
71. 34324023 c.3383A>C p.E1128A missense 0.00006631●●●●●●
72. 34156513 c.606+5delG splice site 0.00006617●●●●●●
73. 34310762 c.3046A>G p.I1016V missense 0.00006598●●●●●●
74. 33935533 c.197A>G p.N66S missense 0.00006595●●●●●●
75. 34298366 c.2580delA p.Pro862LeufsTer31 frameshift 0.00006506●●●●●●
76. 34273227 c.1552C>T p.R518W missense 0.00006105●●●●●●
77. 34297906 c.2120C>T p.P707L missense 0.00005788●●●●●●
78. 34261476 c.1388G>A p.R463Q missense 0.00005775●●●●●●
79. 34320629 c.3062C>T p.T1021M missense 0.00005775●●●●●●
80. 34205537 c.1021C>T p.R341W missense 0.00005360●●●●●●
81. 34205538 c.1022G>A p.R341Q missense 0.00005336●●●●●●
82. 33952644 c.274C>T p.R92W missense 0.00005114●●●●●●
83. 34273273 c.1598C>T p.S533L missense 0.00005073●●●●●●
84. 34289097 c.1751C>T p.P584L missense 0.00004995●●●●●●
85. 34205592 c.1076G>A p.R359H missense 0.00004988●●●●●●
86. 33935607 c.271G>A p.G91R missense 0.00004987●●●●●●
87. 34289141 c.1795C>T p.Q599X nonsense 0.00004972●●●●●●
88. 34261506 c.1418T>C p.I473T missense 0.00004962●●●●●●
89. 34092458 c.463A>G p.K155E missense 0.00004959●●●●●●
90. 34322791 c.3326C>A p.A1109D missense 0.00004954●●●●●●
91. 34238123 c.1282T>C p.S428P missense 0.00004943●●●●●●
92. 33877845 c.47C>T p.P16L missense 0.00004831●●●●●●
93. 33877851 c.53A>G p.N18S missense 0.00004778●●●●●●
94. 34340686 c.4016C>G p.P1339R missense 0.00004296●●●●●●
95. 34297845 c.2059G>A p.D687N missense 0.00004290●●●●●●
96. 34340668 c.3998T>C p.V1333A missense 0.00004255●●●●●●
97. 33877893 c.95C>A p.T32K missense 0.00004255●●●●●●
98. 34289060 c.1714A>T p.S572C missense 0.00004210●●●●●●
99. 33877907 c.109C>G p.L37V missense 0.00004186●●●●●●
100. 34326930 c.3539A>T p.D1180V missense 0.00004162●●●●●●
101. 34205591 c.1075C>T p.R359C missense 0.00004158●●●●●●
102. 34349366 c.4214G>A p.R1405Q missense 0.00004151●●●●●●
103. 34261521 c.1433G>T p.R478I missense 0.00004149●●●●●●
104. 34205604 c.1088G>A p.R363H missense 0.00004145●●●●●●
105. 34205613 c.1097C>T p.S366L missense 0.00004139●●●●●●
106. 34298448 c.2662G>A p.A888T missense 0.00004135●●●●●●
107. 34359431 c.4258G>A p.G1420S missense 0.00004134●●●●●●
108. 34320769 c.3202G>A p.A1068T missense 0.00004124●●●●●●
109. 34324127 c.3487G>C p.E1163Q missense 0.00004122●●●●●●
110. 34327022 c.3631C>T p.R1211W missense 0.00004122●●●●●●
111. 34298572 c.2786G>A p.R929Q missense 0.00004121●●●●●●
112. 34238121 c.1280T>A p.V427D missense 0.00004120●●●●●●
113. 34310669 c.2953G>A p.A985T missense 0.00004118●●●●●●
114. 34340699 c.4029C>A p.D1343E missense 0.00003497●●●●●●
115. 34298043 c.2257G>A p.V753I missense 0.00003474●●●●●●
116. 34273233 c.1558G>A p.V520M missense 0.00003469●●●●●●
117. 34298085 c.2299G>C p.E767Q missense 0.00003465●●●●●●
118. 34205552 c.1036G>A p.V346M missense 0.00003449●●●●●●
119. 34320643 c.3076G>A p.D1026N missense 0.00003431●●●●●●
120. 34298121 c.2335A>G p.I779V missense 0.00003418●●●●●●
121. 34174814 c.671A>G p.N224S missense 0.00003407●●●●●●
122. 34298134 c.2348C>G p.A783G missense 0.00003391●●●●●●
123. 34273347 c.1672G>A p.V558M missense 0.00003384●●●●●●
124. 34297963 c.2177C>T p.A726V missense 0.00003377●●●●●●
125. 34297957 c.2171C>T p.A724V missense 0.00003360●●●●●●
126. 34298149 c.2363A>G p.K788R missense 0.00003355●●●●●●
127. 34298401 c.2615C>A p.P872H missense 0.00003352●●●●●●
128. 34205701 c.1185T>A p.D395E missense 0.00003352●●●●●●
129. 34322696 c.3235-4A>G splice site 0.00003323●●●●●●
130. 34192048 c.947A>G p.N316S missense 0.00003316●●●●●●
131. 34261512 c.1424G>A p.R475Q missense 0.00003312●●●●●●
132. 34298474 c.2688G>C p.Q896H missense 0.00003306●●●●●●
133. 34156414 c.512C>G p.A171G missense 0.00003305●●●●●●
134. 34191951 c.850G>A p.D284N missense 0.00003305●●●●●●
135. 34320679 c.3112G>A p.A1038T missense 0.00003303●●●●●●
136. 34192029 c.928G>A p.D310N missense 0.00003302●●●●●●
137. 34238120 c.1279G>A p.V427I missense 0.00003296●●●●●●
138. 34182645 c.727C>A p.P243T missense 0.00003295●●●●●●
139. 34182657 c.739A>G p.I247V missense 0.00003295●●●●●●
140. 34205478 c.962C>T p.A321V missense 0.00002771●●●●●●
141. 34205508 c.992C>T p.T331M missense 0.00002744●●●●●●
142. 34205520 c.1004C>A p.P335H missense 0.00002721●●●●●●
143. 34205531 c.1015C>T p.R339W missense 0.00002703●●●●●●
144. 34297802 c.2016G>C p.W672C missense 0.00002688●●●●●●
145. 34273208 c.1533C>G p.H511Q missense 0.00002675●●●●●●
146. 34273372 c.1697C>T p.P566L missense 0.00002648●●●●●●
147. 34335225 c.3851G>A p.R1284Q missense 0.00002648●●●●●●
148. 34298061 c.2275C>G p.R759G missense 0.00002610●●●●●●
149. 34273239 c.1564C>T p.R522W missense 0.00002594●●●●●●
150. 34298101 c.2315G>A p.G772E missense 0.00002587●●●●●●
151. 34340608 c.3938G>T p.S1313I missense 0.00002583●●●●●●
152. 34340614 c.3944C>T p.P1315L missense 0.00002569●●●●●●
153. 34327100 c.3707+2T>C essential splice site 0.00002568●●●●●●
154. 34335079 c.3708-3C>T splice site 0.00002562●●●●●●
155. 33952645 c.275G>A p.R92Q missense 0.00002552●●●●●●
156. 34340641 c.3971C>T p.A1324V missense 0.00002550●●●●●●
157. 33952690 c.320G>A p.R107K missense 0.00002524●●●●●●
158. 34298151 c.2365G>T p.V789F missense 0.00002513●●●●●●
159. 34349372 c.4220G>A p.R1407Q missense 0.00002510●●●●●●
160. 34298277 c.2491A>C p.I831L missense 0.00002510●●●●●●
161. 34205697 c.1181G>A p.R394Q missense 0.00002508●●●●●●
162. 34289313 c.1967G>C p.R656T missense 0.00002505●●●●●●
163. 34335161 c.3787A>G p.I1263V missense 0.00002494●●●●●●
164. 34297878 c.2092A>T p.M698L missense 0.00002490●●●●●●
165. 34192045 c.944T>C p.L315P missense 0.00002486●●●●●●
166. 34238159 c.1310+8C>G splice site 0.00002481●●●●●●
167. 34289162 c.1816G>A p.E606K missense 0.00002480●●●●●●
168. 34359404 c.4238-7A>T splice site 0.00002479●●●●●●
169. 34205646 c.1130C>T p.P377L missense 0.00002478●●●●●●
170. 34298622 c.2836A>G p.T946A missense 0.00002477●●●●●●
171. 34261413 c.1325G>A p.G442D missense 0.00002474●●●●●●
172. 34349264 c.4112C>T p.S1371L missense 0.00002472●●●●●●
173. 34182646 c.728C>A p.P243H missense 0.00002471●●●●●●
174. 34349300 c.4148T>C p.M1383T missense 0.00002471●●●●●●
175. 34273168 c.1497-4T>A splice site 0.00002392●●●●●●
176. 34081936 c.379C>G p.L127V missense 0.00002214●●●●●●
177. 34267149 c.1496+8T>C splice site 0.00002120●●●●●●
178. 34267093 c.1448G>A p.R483Q missense 0.00001957●●●●●●
179. 34273392 c.1711+6T>C splice site 0.00001924●●●●●●
180. 34273197 c.1522G>T p.A508S missense 0.00001838●●●●●●
181. 34205511 c.995A>G p.E332G missense 0.00001825●●●●●●
182. 34205516 c.1000delC p.Ser336ValfsTer138 frameshift 0.00001821●●●●●●
183. 34298359 c.2573C>T p.P858L missense 0.00001814●●●●●●
184. 34174741 c.607-9T>C splice site 0.00001811●●●●●●
185. 34174837 c.694G>A p.V232I missense 0.00001789●●●●●●
186. 34297806 c.2020G>A p.A674T missense 0.00001785●●●●●●
187. 34297810 c.2024G>A p.G675D missense 0.00001778●●●●●●
188. 34273209 c.1534G>A p.E512K missense 0.00001777●●●●●●
189. 34340586 c.3916G>A p.G1306S missense 0.00001763●●●●●●
190. 34298061 c.2275C>T p.R759W missense 0.00001740●●●●●●
191. 34298062 c.2276G>A p.R759Q missense 0.00001738●●●●●●
192. 34326901 c.3517-7T>A splice site 0.00001724●●●●●●
193. 34174757 c.614T>A p.L205Q missense 0.00001724●●●●●●
194. 33952637 c.273-6C>T splice site 0.00001721●●●●●●
195. 34340685 c.4015C>T p.P1339S missense 0.00001718●●●●●●
196. 33952638 c.273-5G>A splice site 0.00001717●●●●●●
197. 34298113 c.2327G>T p.R776I missense 0.00001716●●●●●●
198. 34327103 c.3707+5delG splice site 0.00001716●●●●●●
199. 34340679 c.4009T>G p.S1337A missense 0.00001711●●●●●●
200. 34191916 c.815C>T p.T272M missense 0.00001705●●●●●●
201. 33952706 c.336C>A splice site 0.00001703●●●●●●
202. 34340652 c.3982G>A p.E1328K missense 0.00001698●●●●●●
203. 34174772 c.629C>T p.A210V missense 0.00001696●●●●●●
204. 34205713 c.1196+1G>T essential splice site 0.00001691●●●●●●
205. 34205567 c.1051G>A p.G351R missense 0.00001689●●●●●●
206. 34298682 c.2892+4C>G splice site 0.00001687●●●●●●
207. 34326918 c.3527A>C p.D1176A missense 0.00001686●●●●●●
208. 33952684 c.314C>G p.S105C missense 0.00001681●●●●●●
209. 34205706 c.1190G>A p.R397H missense 0.00001681●●●●●●
210. 34205705 c.1189C>T p.R397C missense 0.00001681●●●●●●
211. 34289327 c.1981G>A p.D661N missense 0.00001678●●●●●●
212. 34298400 c.2614C>G p.P872A missense 0.00001678●●●●●●
213. 34297863 c.2077C>T p.R693W missense 0.00001677●●●●●●
214. 34335186 c.3812G>A p.R1271H missense 0.00001674●●●●●●
215. 34349371 c.4219C>G p.R1407G missense 0.00001673●●●●●●
216. 34289319 c.1973_1975delAGA p.Lys659del inframe 0.00001672●●●●●●
217. 34092393 c.406-8C>A splice site 0.00001669●●●●●●
218. 34289304 c.1958C>T p.T653M missense 0.00001666●●●●●●
219. 34326930 c.3539A>C p.D1180A missense 0.00001665●●●●●●
220. 34335168 c.3794A>T p.E1265V missense 0.00001664●●●●●●
221. 34298263 c.2477G>C p.G826A missense 0.00001664●●●●●●
222. 34335119 c.3745T>A p.Y1249N missense 0.00001663●●●●●●
223. 34349366 c.4214G>T p.R1405L missense 0.00001661●●●●●●
224. 33935604 c.268G>A p.A90T missense 0.00001660●●●●●●
225. 34359477 c.4304C>T p.S1435L missense 0.00001660●●●●●●
226. 34205603 c.1087C>T p.R363C missense 0.00001658●●●●●●
227. 34327056 c.3665G>T p.R1222L missense 0.00001658●●●●●●
228. 34205681 c.1165A>T p.K389X nonsense 0.00001658●●●●●●
229. 34297887 c.2101G>A p.A701T missense 0.00001656●●●●●●
230. 34298244 c.2458A>G p.M820V missense 0.00001656●●●●●●
231. 34297923 c.2137G>C p.G713R missense 0.00001655●●●●●●
232. 34261510 c.1422G>T p.E474D missense 0.00001655●●●●●●
233. 34298457 c.2671G>T p.G891C missense 0.00001654●●●●●●
234. 34238159 c.1310+8C>T splice site 0.00001654●●●●●●
235. 34298451 c.2665C>T p.P889S missense 0.00001654●●●●●●
236. 34298454 c.2668C>G p.Q890E missense 0.00001654●●●●●●
237. 34298455 c.2669A>G p.Q890R missense 0.00001654●●●●●●
238. 34298463 c.2677G>C p.G893R missense 0.00001653●●●●●●
239. 34289168 c.1822G>A p.A608T missense 0.00001653●●●●●●
240. 34205633 c.1117A>T p.T373S missense 0.00001653●●●●●●
241. 34205653 c.1137T>A p.S379R missense 0.00001652●●●●●●
242. 34324056 c.3416A>G p.K1139R missense 0.00001651●●●●●●
243. 34191954 c.853G>A p.V285I missense 0.00001651●●●●●●
244. 34261472 c.1384C>T p.R462W missense 0.00001650●●●●●●
245. 34261407 c.1319C>T p.P440L missense 0.00001650●●●●●●
246. 34092438 c.443A>G p.E148G missense 0.00001650●●●●●●
247. 34298187 c.2401T>C p.S801P missense 0.00001650●●●●●●
248. 34349351 c.4199C>T p.P1400L missense 0.00001650●●●●●●
249. 34326955 c.3564A>T p.R1188S missense 0.00001650●●●●●●
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502. 34192018 c.917G>A p.G306E missense 0.00000825●●●●●●
503. 34261486 c.1398A>C p.R466S missense 0.00000825●●●●●●
504. 34320684 c.3117C>A p.N1039K missense 0.00000825●●●●●●
505. 34324062 c.3422C>T p.S1141L missense 0.00000825●●●●●●
506. 34261480 c.1392G>C p.Q464H missense 0.00000825●●●●●●
507. 34092421 c.426T>A p.H142Q missense 0.00000825●●●●●●
508. 34156498 c.596T>C p.I199T missense 0.00000825●●●●●●
509. 34261391 c.1311-8A>G splice site 0.00000825●●●●●●
510. 34192021 c.920C>G p.T307S missense 0.00000825●●●●●●
511. 34310765 c.3049G>A p.E1017K missense 0.00000825●●●●●●
512. 34238141 c.1300A>G p.R434G missense 0.00000825●●●●●●
513. 34320685 c.3118C>G p.P1040A missense 0.00000825●●●●●●
514. 34310618 c.2902G>A p.A968T missense 0.00000825●●●●●●
515. 34322772 c.3307A>G p.I1103V missense 0.00000824●●●●●●
516. 34238133 c.1292A>G p.Q431R missense 0.00000824●●●●●●
517. 34182675 c.757_758insA p.Asp255ArgfsTer4 frameshift 0.00000824●●●●●●
518. 34238039 c.1198T>C p.Y400H missense 0.00000824●●●●●●
519. 34310670 c.2954C>T p.A985V missense 0.00000824●●●●●●
520. 34349276 c.4124C>T p.T1375I missense 0.00000824●●●●●●
521. 34326971 c.3580G>T p.D1194Y missense 0.00000824●●●●●●
522. 34156474 c.572C>T p.T191I missense 0.00000824●●●●●●
523. 34327023 c.3632G>A p.R1211Q missense 0.00000824●●●●●●
524. 34322753 c.3288C>A p.N1096K missense 0.00000824●●●●●●
525. 34238124 c.1283C>T p.S428L missense 0.00000824●●●●●●
526. 34182688 c.770T>A p.V257D missense 0.00000824●●●●●●
527. 33935548 c.212A>G p.D71G missense 0.00000824●●●●●●
528. 34327019 c.3628C>G p.Q1210E missense 0.00000824●●●●●●
529. 34310631 c.2915G>A p.R972K missense 0.00000824●●●●●●
530. 34349287 c.4135G>C p.A1379P missense 0.00000824●●●●●●
531. 34156458 c.556A>G p.I186V missense 0.00000824●●●●●●
532. 34192011 c.910A>G p.K304E missense 0.00000824●●●●●●
533. 34324092 c.3452T>C p.V1151A missense 0.00000824●●●●●●
534. 34182632 c.719-5C>T splice site 0.00000824●●●●●●
535. 34238137 c.1296G>T p.E432D missense 0.00000824●●●●●●
536. 34191985 c.884C>T p.A295V missense 0.00000824●●●●●●
537. 34310676 c.2960A>G p.N987S missense 0.00000824●●●●●●
538. 34238088 c.1247G>T p.G416V missense 0.00000824●●●●●●
539. 34298595 c.2809T>A p.S937T missense 0.00000824●●●●●●
540. 34324129 c.3489G>T p.E1163D missense 0.00000824●●●●●●
541. 34322761 c.3296C>A p.T1099N missense 0.00000824●●●●●●
542. 33935548 c.212A>C p.D71A missense 0.00000824●●●●●●
543. 34238133 c.1292A>C p.Q431P missense 0.00000824●●●●●●
544. 34156477 c.575T>G p.I192S missense 0.00000824●●●●●●
545. 34349302 c.4150G>A p.D1384N missense 0.00000824●●●●●●
546. 34156464 c.562C>A p.R188S missense 0.00000824●●●●●●
547. 34182737 c.813+6T>C splice site 0.00000824●●●●●●
548. 34349252 c.4100G>A p.G1367E missense 0.00000824●●●●●●
549. 34298559 c.2773T>C p.C925R missense 0.00000824●●●●●●
550. 34310723 c.3007A>G p.I1003V missense 0.00000824●●●●●●
551. 34238099 c.1258C>G p.P420A missense 0.00000824●●●●●●
552. 34182649 c.731G>A p.W244X nonsense 0.00000824●●●●●●
553. 33935533 c.197A>T p.N66I missense 0.00000824●●●●●●
554. 34349290 c.4138G>C p.D1380H missense 0.00000824●●●●●●
555. 34326997 c.3606T>G p.H1202Q missense 0.00000824●●●●●●
556. 34156433 c.531G>T p.L177F missense 0.00000824●●●●●●
557. 34322767 c.3302G>A p.G1101D missense 0.00000824●●●●●●
558. 34238133 c.1292A>T p.Q431L missense 0.00000824●●●●●●
559. 33935552 c.216G>T p.L72F missense 0.00000824●●●●●●
560. 34320752 c.3185C>T p.A1062V missense 0.00000824●●●●●●
561. 34310669 c.2953G>T p.A985S missense 0.00000824●●●●●●
562. 34349305 c.4153C>T p.R1385C missense 0.00000824●●●●●●
563. 34156468 c.566A>G p.N189S missense 0.00000824●●●●●●
564. 34349258 c.4106A>G p.D1369G missense 0.00000824●●●●●●
565. 34298563 c.2777A>G p.K926R missense 0.00000824●●●●●●
566. 34310754 c.3038_3040delAAG p.Glu1014del inframe 0.00000824●●●●●●
567. 34182706 c.788T>C p.V263A missense 0.00000824●●●●●●
568. 34182679 c.761A>G p.K254R missense 0.00000824●●●●●●
569. 33935538 c.202G>A p.A68T missense 0.00000824●●●●●●
570. 34349323 c.4171A>G p.T1391A missense 0.00000824●●●●●●
571. 34327002 c.3611T>C p.M1204T missense 0.00000824●●●●●●

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

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