SYNM variants in ExAC

SYNM gene summary
SYNM variants in

The table below lists the SYNM 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. 0 c.702_703insG p.Ala235GlyfsTer39 frameshift 1.00000000●●●●●●
2. 99653800 c.812T>C p.V271A missense 0.58909306●●●●●●
3. 99672722 c.4154A>G p.E1385G missense 0.49473231●●●●●●
4. 99670265 c.1697C>T p.P566L missense 0.14857829●●●●●●
5. 99672599 c.4031G>C p.G1344A missense 0.14654115●●●●●●
6. 99666979 c.985G>A p.V329I missense 0.13417930●●●●●●
7. 99646218 c.807+4C>A splice site 0.13154173●●●●●●
8. 99669628 c.1060A>T p.R354W missense 0.11392615●●●●●●
9. 99671795 c.3227C>T p.S1076L missense 0.08370306●●●●●●
10. 99671765 c.3197G>C p.R1066P missense 0.05822599●●●●●●
11. 99670847 c.2279C>T p.P760L missense 0.05429033●●●●●●
12. 99646097 c.692C>T p.A231V missense 0.04444444●●●●●●
13. 99671492 c.2924A>G p.Q975R missense 0.02075856●●●●●●
14. 99671741 c.3173C>T p.P1058L missense 0.02074226●●●●●●
15. 99670400 c.1832A>C p.E611A missense 0.02016350●●●●●●
16. 99672445 c.3877G>A p.D1293N missense 0.01932044●●●●●●
17. 0 c.700G>A p.A234T missense 0.01851852●●●●●●
18. 99646201 c.794C>T p.A265V missense 0.01074279●●●●●●
19. 99672970 c.4402G>A p.V1468I missense 0.00747555●●●●●●
20. 99671806 c.3238G>A p.E1080K missense 0.00572462●●●●●●
21. 99670804 c.2236G>A p.E746K missense 0.00565371●●●●●●
22. 99671266 c.2698G>A p.D900N missense 0.00511151●●●●●●
23. 99672197 c.3629C>T p.S1210F missense 0.00463087●●●●●●
24. 99646206 c.799G>A p.E267K missense 0.00407106●●●●●●
25. 99670477 c.1909G>A p.V637I missense 0.00301466●●●●●●
26. 99646217 c.807+3C>T splice site 0.00268456●●●●●●
27. 99671953 c.3385G>A p.G1129S missense 0.00260851●●●●●●
28. 99645622 c.217G>C p.E73Q missense 0.00232685●●●●●●
29. 99646198 c.791A>C p.Q264P missense 0.00220872●●●●●●
30. 99670027 c.1459C>T p.R487W missense 0.00215021●●●●●●
31. 99671686 c.3118A>G p.R1040G missense 0.00211455●●●●●●
32. 99672544 c.3976C>T p.H1326Y missense 0.00204966●●●●●●
33. 99646003 c.598C>T p.Q200X nonsense 0.00167919●●●●●●
34. 99673100 c.4532G>A p.G1511E missense 0.00156956●●●●●●
35. 99670918 c.2350_2352delAAG p.Lys784del inframe 0.00138310●●●●●●
36. 99673019 c.4451C>G p.S1484C missense 0.00124421●●●●●●
37. 99670801 c.2233G>A p.V745M missense 0.00120324●●●●●●
38. 99671617 c.3049G>T p.E1017X nonsense 0.00106936●●●●●●
39. 99672644 c.4076C>T p.S1359L missense 0.00106850●●●●●●
40. 99671618 c.3050A>T p.E1017V missense 0.00106094●●●●●●
41. 99645841 c.436G>A p.A146T missense 0.00095057●●●●●●
42. 99646014 c.609G>C p.E203D missense 0.00095027●●●●●●
43. 99670916 c.2348T>C p.V783A missense 0.00094991●●●●●●
44. 99646209 c.802C>G p.R268G missense 0.00089767●●●●●●
45. 99645473 c.68A>G p.Y23C missense 0.00089588●●●●●●
46. 99645976 c.571G>C p.V191L missense 0.00064443●●●●●●
47. 99646188 c.781_782insA p.Tyr261Ter frameshift 0.00061652●●●●●●
48. 99671298 c.2730delT p.Arg911GlufsTer26 frameshift 0.00054055●●●●●●
49. 99671333 c.2765T>C p.I922T missense 0.00049478●●●●●●
50. 99672071 c.3503G>A p.R1168Q missense 0.00048616●●●●●●
51. 99672658 c.4090G>A p.V1364I missense 0.00048037●●●●●●
52. 99671146 c.2578A>T p.I860F missense 0.00046570●●●●●●
53. 99645662 c.257A>G p.D86G missense 0.00036010●●●●●●
54. 99671834 c.3266C>T p.S1089L missense 0.00035692●●●●●●
55. 99646119 c.712C>T p.R238C missense 0.00035075●●●●●●
56. 99645541 c.136C>T p.R46W missense 0.00030017●●●●●●
57. 99672582 c.4014_4017delAGAG p.Glu1339AlafsTer26 frameshift 0.00029005●●●●●●
58. 99671591 c.3023T>C p.V1008A missense 0.00027953●●●●●●
59. 99670414 c.1846C>T p.R616W missense 0.00026589●●●●●●
60. 99672373 c.3805A>G p.K1269E missense 0.00024927●●●●●●
61. 99669919 c.1351G>A p.G451R missense 0.00024080●●●●●●
62. 99671099 c.2531_2532insT p.Asp845Ter frameshift 0.00024026●●●●●●
63. 99671097 c.2529delA p.Asp844MetfsTer44 frameshift 0.00024025●●●●●●
64. 99646006 c.601C>A p.L201M missense 0.00023882●●●●●●
65. 99670459 c.1891G>A p.D631N missense 0.00023280●●●●●●
66. 99672988 c.4420C>T p.R1474W missense 0.00021553●●●●●●
67. 99653836 c.848C>T p.T283I missense 0.00021438●●●●●●
68. 99672035 c.3467A>G p.D1156G missense 0.00020919●●●●●●
69. 99671395 c.2827G>A p.E943K missense 0.00019512●●●●●●
70. 99669983 c.1415G>A p.R472Q missense 0.00019158●●●●●●
71. 99669827 c.1259G>A p.S420N missense 0.00019056●●●●●●
72. 99653860 c.872G>A p.R291Q missense 0.00019030●●●●●●
73. 99671693 c.3125G>A p.R1042H missense 0.00018991●●●●●●
74. 99672147 c.3579delT p.Ala1194ProfsTer73 frameshift 0.00018594●●●●●●
75. 99646090 c.685C>G p.L229V missense 0.00017039●●●●●●
76. 99673024 c.4456C>T p.R1486C missense 0.00016592●●●●●●
77. 99672779 c.4211G>A p.R1404Q missense 0.00016564●●●●●●
78. 99645976 c.571G>T p.V191L missense 0.00016111●●●●●●
79. 99671359 c.2791G>A p.E931K missense 0.00016100●●●●●●
80. 99645647 c.242C>T p.A81V missense 0.00015888●●●●●●
81. 99672349 c.3781G>T p.V1261F missense 0.00015817●●●●●●
82. 99671864 c.3296C>T p.S1099L missense 0.00015210●●●●●●
83. 99670888 c.2320G>C p.D774H missense 0.00014211●●●●●●
84. 99645904 c.499C>T p.R167C missense 0.00013643●●●●●●
85. 99672916 c.4348A>G p.I1450V missense 0.00013254●●●●●●
86. 99673217 c.4649_4652delTCTA p.Tyr1551Ter frameshift 0.00012609●●●●●●
87. 99670945 c.2377G>A p.D793N missense 0.00012458●●●●●●
88. 99670279 c.1711G>T p.V571L missense 0.00012457●●●●●●
89. 99672981 c.4413C>G p.I1471M missense 0.00012433●●●●●●
90. 99671011 c.2443G>A p.E815K missense 0.00012423●●●●●●
91. 99671401 c.2833C>T p.R945W missense 0.00012043●●●●●●
92. 99671977 c.3409G>C p.E1137Q missense 0.00011733●●●●●●
93. 99670415 c.1847G>A p.R616Q missense 0.00011634●●●●●●
94. 99669709 c.1141C>T p.R381C missense 0.00011593●●●●●●
95. 99670636 c.2068A>G p.K690E missense 0.00010892●●●●●●
96. 99670885 c.2317G>A p.E773K missense 0.00010881●●●●●●
97. 99670265 c.1697C>G p.P566R missense 0.00010846●●●●●●
98. 99645922 c.517C>T p.P173S missense 0.00010844●●●●●●
99. 99672950 c.4382T>G p.F1461C missense 0.00010771●●●●●●
100. 99672865 c.4297G>T p.D1433Y missense 0.00010769●●●●●●
101. 99669767 c.1199C>T p.S400L missense 0.00010766●●●●●●
102. 99671186 c.2618G>A p.R873Q missense 0.00010369●●●●●●
103. 99670576 c.2008G>A p.V670M missense 0.00010152●●●●●●
104. 99672499 c.3931A>G p.S1311G missense 0.00010043●●●●●●
105. 99670345 c.1777A>G p.K593E missense 0.00009964●●●●●●
106. 99672940 c.4372T>C p.S1458P missense 0.00009942●●●●●●
107. 99671845 c.3277A>G p.T1093A missense 0.00009817●●●●●●
108. 99671243 c.2675T>C p.V892A missense 0.00009698●●●●●●
109. 99671266 c.2698G>C p.D900H missense 0.00009400●●●●●●
110. 99670837 c.2269G>A p.G757R missense 0.00009266●●●●●●
111. 99670387 c.1819G>A p.G607S missense 0.00009137●●●●●●
112. 99672983 c.4415G>A p.R1472H missense 0.00009118●●●●●●
113. 99671663 c.3095C>T p.S1032L missense 0.00009106●●●●●●
114. 99671453 c.2885G>A p.R962H missense 0.00008768●●●●●●
115. 99671116 c.2548G>A p.G850R missense 0.00008288●●●●●●
116. 99645992 c.587G>T p.R196L missense 0.00008067●●●●●●
117. 99645556 c.151G>A p.G51S missense 0.00008065●●●●●●
118. 99646084 c.679A>G p.T227A missense 0.00007948●●●●●●
119. 99646027 c.622G>A p.E208K missense 0.00007811●●●●●●
120. 99653902 c.914T>C p.L305P missense 0.00007805●●●●●●
121. 99670560 c.1992C>G p.D664E missense 0.00007606●●●●●●
122. 99670861 c.2293G>A p.V765I missense 0.00007564●●●●●●
123. 99673212 c.4644_4646delCCT p.Leu1550del inframe 0.00007557●●●●●●
124. 99672050 c.3482C>T p.A1161V missense 0.00007552●●●●●●
125. 99673062 c.4494G>C p.Q1498H missense 0.00007471●●●●●●
126. 99672817 c.4249G>C p.A1417P missense 0.00007454●●●●●●
127. 99672026 c.3458C>T p.A1153V missense 0.00006695●●●●●●
128. 99670741 c.2173A>G p.I725V missense 0.00006694●●●●●●
129. 99670343 c.1775C>T p.P592L missense 0.00006643●●●●●●
130. 99673063 c.4495G>A p.A1499T missense 0.00006642●●●●●●
131. 99670328 c.1760G>T p.R587I missense 0.00006641●●●●●●
132. 99671653 c.3085G>A p.A1029T missense 0.00006352●●●●●●
133. 99645502 c.97G>A p.E33K missense 0.00006241●●●●●●
134. 99671837 c.3269G>A p.G1090E missense 0.00006234●●●●●●
135. 99645499 c.94C>G p.L32V missense 0.00006152●●●●●●
136. 99671776 c.3208C>T p.R1070W missense 0.00006082●●●●●●
137. 99670607 c.2039A>G p.K680R missense 0.00005913●●●●●●
138. 99672977 c.4409C>T p.A1470V missense 0.00005802●●●●●●
139. 99672968 c.4400A>C p.N1467T missense 0.00005801●●●●●●
140. 99672941 c.4373C>T p.S1458L missense 0.00005799●●●●●●
141. 99672759 c.4191C>G p.S1397R missense 0.00005797●●●●●●
142. 99670180 c.1612T>C p.W538R missense 0.00005435●●●●●●
143. 99671702 c.3134C>T p.A1045V missense 0.00005410●●●●●●
144. 99673263 c.4695A>C p.X1565YextX1 nonsense 0.00005239●●●●●●
145. 99670238 c.1670_1672delAGG p.Glu558del inframe 0.00005124●●●●●●
146. 99670541 c.1973C>T p.S658F missense 0.00005059●●●●●●
147. 99673223 c.4655T>C p.L1552P missense 0.00005055●●●●●●
148. 99672100 c.3532G>A p.G1178S missense 0.00005039●●●●●●
149. 99672470 c.3902C>T p.P1301L missense 0.00005030●●●●●●
150. 99671385 c.2817_2819delCTC p.Ser940del inframe 0.00005004●●●●●●
151. 99670358 c.1790C>T p.T597M missense 0.00004983●●●●●●
152. 99673043 c.4475C>T p.A1492V missense 0.00004980●●●●●●
153. 99670319 c.1751A>G p.Q584R missense 0.00004980●●●●●●
154. 99671108 c.2540C>A p.S847X nonsense 0.00004972●●●●●●
155. 99669655 c.1087C>A p.P363T missense 0.00004971●●●●●●
156. 99669680 c.1112C>T p.S371L missense 0.00004970●●●●●●
157. 99672691 c.4123G>A p.V1375I missense 0.00004969●●●●●●
158. 99671501 c.2933C>T p.P978L missense 0.00004791●●●●●●
159. 99671692 c.3124C>T p.R1042C missense 0.00004525●●●●●●
160. 99671578 c.3010G>A p.V1004I missense 0.00004492●●●●●●
161. 99645454 c.49G>A p.E17K missense 0.00004456●●●●●●
162. 99671449 c.2881G>A p.E961K missense 0.00004417●●●●●●
163. 99670079 c.1511C>T p.T504M missense 0.00004360●●●●●●
164. 99671904 c.3336G>C p.Q1112H missense 0.00004353●●●●●●
165. 99673231 c.4663_4665delGAG p.Glu1555del inframe 0.00004226●●●●●●
166. 99670020 c.1452A>C p.E484D missense 0.00004187●●●●●●
167. 99672041 c.3473G>T p.S1158I missense 0.00004186●●●●●●
168. 99671162 c.2594A>C p.Q865P missense 0.00004186●●●●●●
169. 99672524 c.3956C>T p.T1319I missense 0.00004165●●●●●●
170. 99672356 c.3788delA p.Gln1263HisfsTer4 frameshift 0.00004159●●●●●●
171. 99670448 c.1880C>G p.S627C missense 0.00004155●●●●●●
172. 99670426 c.1858G>A p.G620S missense 0.00004154●●●●●●
173. 99673117 c.4549G>C p.E1517Q missense 0.00004154●●●●●●
174. 99670943 c.2375G>T p.S792I missense 0.00004154●●●●●●
175. 99673064 c.4496C>G p.A1499G missense 0.00004151●●●●●●
176. 99669629 c.1061delG p.Asn355IlefsTer80 frameshift 0.00004145●●●●●●
177. 99672863 c.4295C>T p.A1432V missense 0.00004142●●●●●●
178. 99672914 c.4346A>G p.H1449R missense 0.00004142●●●●●●
179. 99669710 c.1142G>A p.R381H missense 0.00004141●●●●●●
180. 99669671 c.1103A>G p.N368S missense 0.00004141●●●●●●
181. 99671473 c.2905G>A p.A969T missense 0.00004128●●●●●●
182. 99645428 c.23C>G p.T8R missense 0.00004001●●●●●●
183. 99645418 c.13C>T p.R5W missense 0.00003978●●●●●●
184. 99671320 c.2752G>A p.E918K missense 0.00003953●●●●●●
185. 99671487 c.2919G>C p.E973D missense 0.00003945●●●●●●
186. 99645410 c.5T>C p.L2P missense 0.00003773●●●●●●
187. 99671509 c.2941G>A p.V981I missense 0.00003761●●●●●●
188. 99671599 c.3031G>A p.D1011N missense 0.00003632●●●●●●
189. 99671402 c.2834G>A p.R945Q missense 0.00003599●●●●●●
190. 99670202 c.1634A>G p.D545G missense 0.00003587●●●●●●
191. 99671842 c.3274C>T p.R1092C missense 0.00003574●●●●●●
192. 99671732 c.3164C>T p.A1055V missense 0.00003561●●●●●●
193. 99653920 c.932G>A p.R311Q missense 0.00003481●●●●●●
194. 99653919 c.931C>T p.R311W missense 0.00003479●●●●●●
195. 99653892 c.904G>A p.G302S missense 0.00003472●●●●●●
196. 99653866 c.878A>C p.Y293S missense 0.00003455●●●●●●
197. 99670045 c.1477G>A p.V493I missense 0.00003412●●●●●●
198. 99670822 c.2254G>A p.V752M missense 0.00003366●●●●●●
199. 99672084 c.3516T>G p.H1172Q missense 0.00003354●●●●●●
200. 99670742 c.2174T>C p.I725T missense 0.00003348●●●●●●
201. 99670492 c.1924G>A p.V642I missense 0.00003335●●●●●●
202. 99669982 c.1414C>T p.R472W missense 0.00003332●●●●●●
203. 99672344 c.3776C>T p.T1259I missense 0.00003331●●●●●●
204. 99669899 c.1331T>C p.F444S missense 0.00003319●●●●●●
205. 99669617 c.1049G>A p.R350K missense 0.00003317●●●●●●
206. 99669865 c.1297C>A p.L433I missense 0.00003316●●●●●●
207. 99672598 c.4030G>A p.G1344R missense 0.00003314●●●●●●
208. 99672591 c.4023_4024delTG p.Val1342AlafsTer19 frameshift 0.00003314●●●●●●
209. 99669650 c.1082A>G p.K361R missense 0.00003314●●●●●●
210. 99669838 c.1270G>A p.V424I missense 0.00003314●●●●●●
211. 99671008 c.2440G>A p.V814M missense 0.00003313●●●●●●
212. 99669722 c.1154C>G p.T385R missense 0.00003312●●●●●●
213. 99666952 c.958C>A p.P320T missense 0.00003239●●●●●●
214. 99666973 c.979G>C p.E327Q missense 0.00003218●●●●●●
215. 99666969 c.975G>A p.W325X nonsense 0.00003205●●●●●●
216. 99666959 c.965T>C p.I322T missense 0.00003191●●●●●●
217. 99666980 c.986T>A p.V329D missense 0.00003181●●●●●●
218. 99671483 c.2915G>A p.R972K missense 0.00002984●●●●●●
219. 99671665 c.3097G>C p.V1033L missense 0.00002721●●●●●●
220. 99671603 c.3035G>A p.R1012Q missense 0.00002720●●●●●●
221. 99670114 c.1546C>T p.R516X nonsense 0.00002677●●●●●●
222. 99671828 c.3260_3261insCAGCT p.Gly1090AlafsTer32 frameshift 0.00002672●●●●●●
223. 99671800 c.3232G>A p.E1078K missense 0.00002630●●●●●●
224. 99653911 c.923C>T p.A308V missense 0.00002609●●●●●●
225. 99671765 c.3197G>A p.R1066H missense 0.00002594●●●●●●
226. 99671305 c.2737G>A p.G913S missense 0.00002560●●●●●●
227. 99671947 c.3379A>G p.K1127E missense 0.00002530●●●●●●
228. 99670819 c.2251C>A p.P751T missense 0.00002527●●●●●●
229. 99670028 c.1460G>A p.R487Q missense 0.00002523●●●●●●
230. 99670627 c.2059G>A p.V687M missense 0.00002521●●●●●●
231. 99672061 c.3493G>A p.G1165R missense 0.00002521●●●●●●
232. 99670630 c.2062G>A p.E688K missense 0.00002519●●●●●●
233. 99672089 c.3521C>T p.T1174M missense 0.00002518●●●●●●
234. 99672069 c.3501delC p.Arg1168GlyfsTer3 frameshift 0.00002515●●●●●●
235. 99673183 c.4615T>C p.S1539P missense 0.00002505●●●●●●
236. 99673170 c.4602G>T p.M1534I missense 0.00002500●●●●●●
237. 99669988 c.1420C>T p.R474C missense 0.00002499●●●●●●
238. 99673055 c.4487A>G p.N1496S missense 0.00002490●●●●●●
239. 99673001 c.4433C>T p.A1478V missense 0.00002488●●●●●●
240. 99669890 c.1322T>G p.V441G missense 0.00002488●●●●●●
241. 99669820 c.1252G>A p.V418I missense 0.00002486●●●●●●
242. 99671083 c.2515G>A p.G839R missense 0.00002486●●●●●●
243. 99671105 c.2537G>A p.G846D missense 0.00002486●●●●●●
244. 99672626 c.4058C>A p.A1353D missense 0.00002485●●●●●●
245. 99672932 c.4364A>G p.K1455R missense 0.00002485●●●●●●
246. 99672897 c.4329delC p.Ser1443ArgfsTer5 frameshift 0.00002485●●●●●●
247. 99672905 c.4337C>T p.T1446M missense 0.00002485●●●●●●
248. 99672731 c.4163_4165delCAGinsCG p.Ala1390GlnfsTer3 frameshift 0.00002484●●●●●●
249. 99669740 c.1172G>T p.G391V missense 0.00002484●●●●●●
250. 99672749 c.4181C>T p.S1394L missense 0.00002484●●●●●●
251. 99671420 c.2852T>C p.V951A missense 0.00002315●●●●●●
252. 99671459 c.2891G>T p.R964M missense 0.00002135●●●●●●
253. 99671515 c.2947G>A p.V983M missense 0.00001863●●●●●●
254. 99671524 c.2956A>G p.K986E missense 0.00001837●●●●●●
255. 99671531 c.2963T>A p.V988D missense 0.00001824●●●●●●
256. 99671537 c.2969G>A p.G990D missense 0.00001814●●●●●●
257. 99671674 c.3106G>A p.E1036K missense 0.00001813●●●●●●
258. 99671680 c.3112C>A p.L1038M missense 0.00001812●●●●●●
259. 99671602 c.3034C>T p.R1012W missense 0.00001812●●●●●●
260. 99671554 c.2986G>A p.V996M missense 0.00001803●●●●●●
261. 99670118 c.1550C>T p.T517I missense 0.00001785●●●●●●
262. 99670115 c.1547G>A p.R516Q missense 0.00001785●●●●●●
263. 99670211 c.1643C>T p.A548V missense 0.00001780●●●●●●
264. 99671881 c.3313A>G p.S1105G missense 0.00001774●●●●●●
265. 99670105 c.1537G>C p.E513Q missense 0.00001772●●●●●●
266. 99671825 c.3257C>T p.S1086F missense 0.00001771●●●●●●
267. 99671816 c.3248G>C p.G1083A missense 0.00001763●●●●●●
268. 99671755 c.3187C>T p.R1063C missense 0.00001759●●●●●●
269. 99671186 c.2618_2620delGAA p.Arg875del inframe 0.00001728●●●●●●
270. 99670594 c.2026C>T p.P676S missense 0.00001692●●●●●●
271. 99671173 c.2605G>A p.V869M missense 0.00001691●●●●●●
272. 99671946 c.3378delA p.Lys1127AsnfsTer25 frameshift 0.00001688●●●●●●
273. 99672189 c.3621_3622delAG p.Glu1208ValfsTer22 frameshift 0.00001683●●●●●●
274. 99672264 c.3696G>C p.E1232D missense 0.00001682●●●●●●
275. 99670795 c.2227G>A p.V743I missense 0.00001682●●●●●●
276. 99672268 c.3700A>T p.I1234F missense 0.00001682●●●●●●
277. 99670855 c.2287T>C p.F763L missense 0.00001681●●●●●●
278. 99672056 c.3488C>T p.P1163L missense 0.00001679●●●●●●
279. 99672468 c.3900G>T p.L1300F missense 0.00001677●●●●●●
280. 99672459 c.3891G>A p.M1297I missense 0.00001676●●●●●●
281. 99672464 c.3896G>C p.G1299A missense 0.00001676●●●●●●
282. 99672070 c.3502C>T p.R1168W missense 0.00001676●●●●●●
283. 99670734 c.2166G>C p.E722D missense 0.00001674●●●●●●
284. 99672308 c.3740A>G p.D1247G missense 0.00001673●●●●●●
285. 99672500 c.3932G>A p.S1311N missense 0.00001672●●●●●●
286. 99670895 c.2327C>T p.S776L missense 0.00001672●●●●●●
287. 99670016 c.1448C>T p.S483L missense 0.00001672●●●●●●
288. 99670504 c.1936C>G p.L646V missense 0.00001670●●●●●●
289. 99670914 c.2346G>T p.L782F missense 0.00001667●●●●●●
290. 99670477 c.1909G>T p.V637L missense 0.00001666●●●●●●
291. 99672340 c.3772C>G p.Q1258E missense 0.00001666●●●●●●
292. 99669977 c.1409C>T p.S470L missense 0.00001665●●●●●●
293. 99669940 c.1372G>A p.V458I missense 0.00001662●●●●●●
294. 99673084 c.4516G>T p.A1506S missense 0.00001661●●●●●●
295. 99670343 c.1775C>G p.P592R missense 0.00001661●●●●●●
296. 99670279 c.1711G>A p.V571M missense 0.00001661●●●●●●
297. 99672534 c.3966G>C p.Q1322H missense 0.00001661●●●●●●
298. 99670956 c.2388C>G p.F796L missense 0.00001660●●●●●●
299. 99670316 c.1748C>T p.S583F missense 0.00001660●●●●●●
300. 99670298 c.1730C>T p.P577L missense 0.00001660●●●●●●
301. 99670954 c.2386T>G p.F796V missense 0.00001660●●●●●●
302. 99671131 c.2563G>A p.E855K missense 0.00001659●●●●●●
303. 99673025 c.4457G>A p.R1486H missense 0.00001659●●●●●●
304. 99669875 c.1307A>G p.N436S missense 0.00001658●●●●●●
305. 99672982 c.4414C>T p.R1472C missense 0.00001658●●●●●●
306. 99672577 c.4009G>A p.D1337N missense 0.00001658●●●●●●
307. 99672989 c.4421G>A p.R1474Q missense 0.00001658●●●●●●
308. 99669868 c.1300T>G p.L434V missense 0.00001658●●●●●●
309. 99669674 c.1106A>C p.H369P missense 0.00001657●●●●●●
310. 99671091 c.2523C>G p.H841Q missense 0.00001657●●●●●●
311. 99669796 c.1228C>T p.Q410X nonsense 0.00001657●●●●●●
312. 99672872 c.4304C>T p.P1435L missense 0.00001657●●●●●●
313. 99672823 c.4255C>T p.R1419C missense 0.00001657●●●●●●
314. 99669662 c.1094C>G p.A365G missense 0.00001657●●●●●●
315. 99672832 c.4264G>A p.V1422M missense 0.00001657●●●●●●
316. 99671108 c.2540C>T p.S847L missense 0.00001657●●●●●●
317. 99671008 c.2440delG p.Val814TrpfsTer4 frameshift 0.00001656●●●●●●
318. 99672703 c.4135C>A p.P1379T missense 0.00001656●●●●●●
319. 99669752 c.1184G>T p.R395I missense 0.00001656●●●●●●
320. 99669773 c.1205A>G p.Y402C missense 0.00001656●●●●●●
321. 99672771 c.4203G>T p.R1401S missense 0.00001656●●●●●●
322. 99669708 c.1140C>A p.H380Q missense 0.00001656●●●●●●
323. 99671005 c.2437_2438insA p.His813GlnfsTer10 frameshift 0.00001656●●●●●●
324. 99671352 c.2784A>G p.I928M missense 0.00001365●●●●●●
325. 99671338 c.2770_2773delAAAG p.Glu925LeufsTer11 frameshift 0.00001359●●●●●●
326. 99671356 c.2788C>T p.H930Y missense 0.00001353●●●●●●
327. 99671344 c.2776A>G p.I926V missense 0.00001352●●●●●●
328. 99671372 c.2804C>A p.S935Y missense 0.00001303●●●●●●
329. 99671306 c.2738G>A p.G913D missense 0.00001278●●●●●●
330. 99671294 c.2726A>G p.Q909R missense 0.00001248●●●●●●
331. 99671287 c.2719delA p.Glu908AsnfsTer29 frameshift 0.00001231●●●●●●
332. 99671267 c.2699A>G p.D900G missense 0.00001181●●●●●●
333. 99671262 c.2694G>T p.E898D missense 0.00001168●●●●●●
334. 99671425 c.2857G>A p.G953R missense 0.00001150●●●●●●
335. 99671430 c.2862G>T p.Q954H missense 0.00001137●●●●●●
336. 99671255 c.2687C>T p.S896F missense 0.00001136●●●●●●
337. 99671253 c.2685_2686delCT p.Leu897GlyfsTer14 frameshift 0.00001125●●●●●●
338. 99671438 c.2870A>G p.E957G missense 0.00001122●●●●●●
339. 99671473 c.2905G>C p.A969P missense 0.00001032●●●●●●
340. 99671474 c.2906C>T p.A969V missense 0.00001026●●●●●●
341. 99671482 c.2914A>G p.R972G missense 0.00000997●●●●●●
342. 99671483 c.2915G>C p.R972T missense 0.00000995●●●●●●
343. 99671225 c.2657T>C p.V886A missense 0.00000993●●●●●●
344. 99671224 c.2656G>A p.V886I missense 0.00000988●●●●●●
345. 99671488 c.2920G>A p.G974R missense 0.00000986●●●●●●
346. 99671493 c.2925G>C p.Q975H missense 0.00000970●●●●●●
347. 99671216 c.2648G>C p.G883A missense 0.00000956●●●●●●
348. 99671210 c.2642C>T p.A881V missense 0.00000936●●●●●●
349. 99671671 c.3103C>T p.R1035W missense 0.00000910●●●●●●
350. 99671671 c.3103C>G p.R1035G missense 0.00000910●●●●●●
351. 99671625 c.3057C>G p.S1019R missense 0.00000909●●●●●●
352. 99671659 c.3091_3092insAGTC p.Val1034GlyfsTer19 frameshift 0.00000907●●●●●●
353. 99671629 c.3061G>T p.D1021Y missense 0.00000907●●●●●●
354. 99670141 c.1573G>A p.D525N missense 0.00000906●●●●●●
355. 99671675 c.3107A>C p.E1036A missense 0.00000906●●●●●●
356. 99670147 c.1579A>G p.K527E missense 0.00000905●●●●●●
357. 99671552 c.2984C>T p.S995F missense 0.00000902●●●●●●
358. 99671582 c.3014C>G p.S1005X nonsense 0.00000899●●●●●●
359. 99671576 c.3008A>G p.N1003S missense 0.00000898●●●●●●
360. 99671572 c.3004G>A p.V1002I missense 0.00000897●●●●●●
361. 99653788 c.808-8C>T splice site 0.00000895●●●●●●
362. 99670123 c.1555C>G p.P519A missense 0.00000895●●●●●●
363. 99670122 c.1554G>C p.K518N missense 0.00000894●●●●●●
364. 99671846 c.3278C>T p.T1093I missense 0.00000893●●●●●●
365. 99671717 c.3149A>G p.D1050G missense 0.00000892●●●●●●
366. 99670211 c.1643C>A p.A548E missense 0.00000890●●●●●●
367. 99671725 c.3157G>C p.G1053R missense 0.00000889●●●●●●
368. 99671728 c.3160G>A p.G1054R missense 0.00000888●●●●●●
369. 99671821 c.3253G>A p.A1085T missense 0.00000885●●●●●●
370. 99671821 c.3253G>T p.A1085S missense 0.00000885●●●●●●
371. 99671756 c.3188G>A p.R1063H missense 0.00000878●●●●●●
372. 99671802 c.3234G>C p.E1078D missense 0.00000877●●●●●●
373. 99671899 c.3331G>A p.A1111T missense 0.00000875●●●●●●
374. 99670082 c.1514G>A p.R505K missense 0.00000874●●●●●●
375. 99671190 c.2622G>T p.R874S missense 0.00000872●●●●●●
376. 99671903 c.3335A>C p.Q1112P missense 0.00000871●●●●●●
377. 99653925 c.932+5G>A splice site 0.00000870●●●●●●
378. 99653927 c.932+7A>T splice site 0.00000870●●●●●●
379. 99671777 c.3209G>A p.R1070Q missense 0.00000869●●●●●●
380. 99671777 c.3209G>C p.R1070P missense 0.00000869●●●●●●
381. 99670072 c.1504delA p.Ala503ProfsTer34 frameshift 0.00000868●●●●●●
382. 99671779 c.3211G>A p.E1071K missense 0.00000868●●●●●●
383. 99653904 c.916G>T p.E306X nonsense 0.00000867●●●●●●
384. 99671774 c.3206C>T p.T1069I missense 0.00000867●●●●●●
385. 99671909 c.3341A>G p.Q1114R missense 0.00000867●●●●●●
386. 99653864 c.876C>G p.D292E missense 0.00000864●●●●●●
387. 99653854 c.866G>C p.W289S missense 0.00000862●●●●●●
388. 99670060 c.1492A>C p.K498Q missense 0.00000861●●●●●●
389. 99670058 c.1490A>G p.K497R missense 0.00000860●●●●●●
390. 99653842 c.854C>T p.A285V missense 0.00000859●●●●●●
391. 99653844 c.856A>G p.M286V missense 0.00000859●●●●●●
392. 99653814 c.826G>A p.E276K missense 0.00000857●●●●●●
393. 99653818 c.830A>G p.D277G missense 0.00000856●●●●●●
394. 99670045 c.1477G>T p.V493F missense 0.00000853●●●●●●
395. 99672163 c.3595T>C p.W1199R missense 0.00000853●●●●●●
396. 99671932 c.3364G>T p.A1122S missense 0.00000851●●●●●●
397. 99672148 c.3580G>A p.A1194T missense 0.00000846●●●●●●
398. 99670592 c.2024T>C p.L675P missense 0.00000846●●●●●●
399. 99670567 c.1999G>T p.V667F missense 0.00000845●●●●●●
400. 99670555 c.1987C>A p.P663T missense 0.00000845●●●●●●
401. 99670560 c.1992C>A p.D664E missense 0.00000845●●●●●●
402. 99672170 c.3602C>T p.S1201L missense 0.00000845●●●●●●
403. 99671943 c.3375C>A p.H1125Q missense 0.00000845●●●●●●
404. 99670809 c.2241C>G p.I747M missense 0.00000843●●●●●●
405. 99672175 c.3607G>C p.E1203Q missense 0.00000843●●●●●●
406. 99672136 c.3568G>A p.G1190S missense 0.00000843●●●●●●
407. 99672179 c.3611C>G p.P1204R missense 0.00000842●●●●●●
408. 99670822 c.2254G>C p.V752L missense 0.00000842●●●●●●
409. 99670813 c.2245G>A p.E749K missense 0.00000842●●●●●●
410. 99673220 c.4652A>G p.Y1551C missense 0.00000842●●●●●●
411. 99670810 c.2242G>A p.V748M missense 0.00000842●●●●●●
412. 99673219 c.4651T>C p.Y1551H missense 0.00000841●●●●●●
413. 99670795 c.2227G>C p.V743L missense 0.00000841●●●●●●
414. 99672269 c.3701T>C p.I1234T missense 0.00000841●●●●●●
415. 99672233 c.3665T>C p.F1222S missense 0.00000840●●●●●●
416. 99672211 c.3643G>A p.G1215R missense 0.00000840●●●●●●
417. 99672205 c.3637A>G p.M1213V missense 0.00000840●●●●●●
418. 99672289 c.3721G>C p.A1241P missense 0.00000840●●●●●●
419. 99672241 c.3673A>T p.R1225X nonsense 0.00000840●●●●●●
420. 99672109 c.3541C>T p.P1181S missense 0.00000840●●●●●●
421. 99672206 c.3638T>C p.M1213T missense 0.00000840●●●●●●
422. 99672242 c.3674G>T p.R1225I missense 0.00000840●●●●●●
423. 99670766 c.2198T>A p.L733Q missense 0.00000840●●●●●●
424. 99670861 c.2293G>C p.V765L missense 0.00000840●●●●●●
425. 99672211 c.3643G>T p.G1215X nonsense 0.00000840●●●●●●
426. 99670628 c.2060delT p.Val687GlyfsTer5 frameshift 0.00000840●●●●●●
427. 99672244 c.3676C>A p.Q1226K missense 0.00000840●●●●●●
428. 99670762 c.2194G>A p.G732S missense 0.00000839●●●●●●
429. 99670792 c.2224G>A p.V742I missense 0.00000839●●●●●●
430. 99673210 c.4642G>T p.A1548S missense 0.00000839●●●●●●
431. 99670874 c.2306T>A p.V769E missense 0.00000838●●●●●●
432. 99672301 c.3733G>C p.V1245L missense 0.00000838●●●●●●
433. 99672049 c.3481_3485delGCGAG p.Ala1161ProfsTer68 frameshift 0.00000838●●●●●●
434. 99672463 c.3895G>A p.G1299R missense 0.00000838●●●●●●
435. 99671980 c.3412C>T p.R1138X nonsense 0.00000838●●●●●●
436. 99672302 c.3734T>C p.V1245A missense 0.00000838●●●●●●
437. 99672081 c.3513_3514insC p.His1172ProfsTer59 frameshift 0.00000838●●●●●●
438. 99671999 c.3431C>T p.P1144L missense 0.00000837●●●●●●
439. 99670750 c.2182A>G p.I728V missense 0.00000837●●●●●●
440. 99672305 c.3737G>C p.G1246A missense 0.00000837●●●●●●
441. 99670728 c.2160delA p.Ala721ProfsTer4 frameshift 0.00000837●●●●●●
442. 99672001 c.3433A>C p.T1145P missense 0.00000837●●●●●●
443. 99670739 c.2171T>C p.M724T missense 0.00000837●●●●●●
444. 99669571 c.1004-1G>A essential splice site 0.00000837●●●●●●
445. 99673201 c.4633A>G p.K1545E missense 0.00000837●●●●●●
446. 99672025 c.3457G>A p.A1153T missense 0.00000837●●●●●●
447. 99671996 c.3428G>T p.G1143V missense 0.00000837●●●●●●
448. 99670258 c.1690G>A p.D564N missense 0.00000837●●●●●●
449. 99672457 c.3889A>G p.M1297V missense 0.00000837●●●●●●
450. 99672304 c.3736G>A p.G1246S missense 0.00000837●●●●●●
451. 99672029 c.3461G>T p.G1154V missense 0.00000837●●●●●●
452. 99670891 c.2323G>T p.V775L missense 0.00000836●●●●●●
453. 99672508 c.3940C>G p.P1314A missense 0.00000836●●●●●●
454. 99672445 c.3877G>C p.D1293H missense 0.00000836●●●●●●
455. 99670651 c.2083G>A p.V695I missense 0.00000836●●●●●●
456. 99670264 c.1696C>T p.P566S missense 0.00000835●●●●●●
457. 99670692 c.2124C>G p.S708R missense 0.00000835●●●●●●
458. 99673186 c.4618G>A p.V1540M missense 0.00000835●●●●●●
459. 99673184 c.4616C>T p.S1539L missense 0.00000835●●●●●●
460. 99672439 c.3871A>T p.I1291L missense 0.00000835●●●●●●
461. 99670009 c.1441G>A p.G481S missense 0.00000835●●●●●●
462. 99670693 c.2125A>C p.K709Q missense 0.00000835●●●●●●
463. 99672441 c.3873A>G p.I1291M missense 0.00000835●●●●●●
464. 99670699 c.2131A>G p.I711V missense 0.00000835●●●●●●
465. 99670665 c.2097T>A p.D699E missense 0.00000835●●●●●●
466. 99672431 c.3863T>G p.L1288W missense 0.00000834●●●●●●
467. 99672329 c.3761C>G p.S1254X nonsense 0.00000834●●●●●●
468. 99671156 c.2588C>T p.S863F missense 0.00000834●●●●●●
469. 99672430 c.3862T>G p.L1288V missense 0.00000834●●●●●●
470. 99673177 c.4609C>G p.Q1537E missense 0.00000834●●●●●●
471. 99671155 c.2587T>C p.S863P missense 0.00000834●●●●●●
472. 99669992 c.1424G>A p.R475Q missense 0.00000833●●●●●●
473. 99672342 c.3774G>C p.Q1258H missense 0.00000833●●●●●●
474. 99669985 c.1417G>C p.D473H missense 0.00000833●●●●●●
475. 99669989 c.1421G>A p.R474H missense 0.00000833●●●●●●
476. 99669970 c.1402C>T p.R468C missense 0.00000833●●●●●●
477. 99670924 c.2356G>C p.E786Q missense 0.00000833●●●●●●
478. 99670283 c.1715G>A p.R572Q missense 0.00000833●●●●●●
479. 99670489 c.1921A>T p.I641F missense 0.00000833●●●●●●
480. 99673156 c.4588C>T p.Q1530X nonsense 0.00000832●●●●●●
481. 99670931 c.2363G>C p.G788A missense 0.00000832●●●●●●
482. 99673158 c.4590G>C p.Q1530H missense 0.00000832●●●●●●
483. 99670268 c.1700_1702delAGG p.Glu568del inframe 0.00000832●●●●●●
484. 99669964 c.1396A>G p.I466V missense 0.00000832●●●●●●
485. 99672526 c.3958A>T p.T1320S missense 0.00000832●●●●●●
486. 99672354 c.3786G>C p.R1262S missense 0.00000832●●●●●●
487. 99670478 c.1910T>A p.V637E missense 0.00000832●●●●●●
488. 99670466 c.1898T>C p.M633T missense 0.00000832●●●●●●
489. 99669594 c.1026C>A p.H342Q missense 0.00000832●●●●●●
490. 99670385 c.1817C>G p.T606S missense 0.00000831●●●●●●
491. 99670457 c.1889G>A p.G630D missense 0.00000831●●●●●●
492. 99669601 c.1033G>A p.D345N missense 0.00000831●●●●●●
493. 99670274 c.1706A>G p.K569R missense 0.00000831●●●●●●
494. 99672389 c.3821G>A p.G1274E missense 0.00000831●●●●●●
495. 99670945 c.2377G>C p.D793H missense 0.00000831●●●●●●
496. 99670442 c.1874C>G p.T625S missense 0.00000831●●●●●●
497. 99673132 c.4564C>T p.Q1522X nonsense 0.00000831●●●●●●
498. 99672396 c.3828C>G p.I1276M missense 0.00000831●●●●●●
499. 99673136 c.4568C>T p.A1523V missense 0.00000831●●●●●●
500. 99670450 c.1882C>G p.L628V missense 0.00000831●●●●●●
501. 99672388 c.3820G>T p.G1274W missense 0.00000831●●●●●●
502. 99670336 c.1768G>A p.V590M missense 0.00000830●●●●●●
503. 99673082 c.4514A>C p.K1505T missense 0.00000830●●●●●●
504. 99673021 c.4453G>C p.D1485H missense 0.00000830●●●●●●
505. 99673100 c.4532G>C p.G1511A missense 0.00000830●●●●●●
506. 99673040 c.4472A>G p.D1491G missense 0.00000830●●●●●●
507. 99670301 c.1733T>A p.I578N missense 0.00000830●●●●●●
508. 99670342 c.1774C>T p.P592S missense 0.00000830●●●●●●
509. 99670288 c.1720A>G p.R574G missense 0.00000830●●●●●●
510. 99673099 c.4531G>A p.G1511R missense 0.00000830●●●●●●
511. 99670967 c.2399A>G p.Q800R missense 0.00000830●●●●●●
512. 99669607 c.1039C>G p.L347V missense 0.00000830●●●●●●
513. 99670316 c.1748C>G p.S583C missense 0.00000830●●●●●●
514. 99673072 c.4504G>A p.V1502M missense 0.00000830●●●●●●
515. 99673042 c.4474G>A p.A1492T missense 0.00000830●●●●●●
516. 99670963 c.2395delA p.Asn799IlefsTer19 frameshift 0.00000830●●●●●●
517. 99673084 c.4516G>A p.A1506T missense 0.00000830●●●●●●
518. 99670289 c.1721G>C p.R574T missense 0.00000830●●●●●●
519. 99673028 c.4460G>A p.G1487D missense 0.00000830●●●●●●
520. 99670328 c.1760G>A p.R587K missense 0.00000830●●●●●●
521. 99673073 c.4505T>A p.V1502E missense 0.00000830●●●●●●
522. 99673087 c.4519T>C p.S1507P missense 0.00000830●●●●●●
523. 99670349 c.1781G>T p.G594V missense 0.00000830●●●●●●
524. 99673031 c.4463C>T p.S1488F missense 0.00000830●●●●●●
525. 99673036 c.4468A>G p.R1490G missense 0.00000830●●●●●●
526. 99670294 c.1726G>T p.V576L missense 0.00000830●●●●●●
527. 99672538 c.3970G>C p.V1324L missense 0.00000830●●●●●●
528. 99669919 c.1351G>T p.G451X nonsense 0.00000830●●●●●●
529. 99670972 c.2404C>T p.R802X nonsense 0.00000829●●●●●●
530. 99672587 c.4019G>A p.S1340N missense 0.00000829●●●●●●
531. 99669634 c.1066C>G p.L356V missense 0.00000829●●●●●●
532. 99672592 c.4024G>C p.V1342L missense 0.00000829●●●●●●
533. 99670976 c.2408G>A p.R803K missense 0.00000829●●●●●●
534. 99669874 c.1306A>T p.N436Y missense 0.00000829●●●●●●
535. 99669854 c.1286C>T p.P429L missense 0.00000829●●●●●●
536. 99672973 c.4405G>A p.E1469K missense 0.00000829●●●●●●
537. 99672565 c.3997G>A p.G1333R missense 0.00000829●●●●●●
538. 99673012 c.4444G>A p.G1482S missense 0.00000829●●●●●●
539. 99669626 c.1058A>G p.E353G missense 0.00000829●●●●●●
540. 99669826 c.1258A>C p.S420R missense 0.00000829●●●●●●
541. 99669865 c.1297C>T p.L433F missense 0.00000829●●●●●●
542. 99670978 c.2410A>G p.T804A missense 0.00000829●●●●●●
543. 99673013 c.4445G>A p.G1482D missense 0.00000829●●●●●●
544. 99672950 c.4382T>C p.F1461S missense 0.00000829●●●●●●
545. 99669630 c.1062G>C p.R354S missense 0.00000829●●●●●●
546. 99669835 c.1267A>G p.N423D missense 0.00000829●●●●●●
547. 99669828 c.1260T>A p.S420R missense 0.00000829●●●●●●
548. 99671103 c.2535C>G p.D845E missense 0.00000829●●●●●●
549. 99670986 c.2418G>T p.Q806H missense 0.00000829●●●●●●
550. 99673018 c.4450T>A p.S1484T missense 0.00000829●●●●●●
551. 99672994 c.4426C>G p.Q1476E missense 0.00000829●●●●●●
552. 99672581 c.4013C>T p.S1338L missense 0.00000829●●●●●●
553. 99669633 c.1065T>A p.N355K missense 0.00000829●●●●●●
554. 99672991 c.4423A>G p.T1475A missense 0.00000829●●●●●●
555. 99672962 c.4394T>C p.V1465A missense 0.00000829●●●●●●
556. 99672557 c.3989C>T p.P1330L missense 0.00000829●●●●●●
557. 99669625 c.1057G>T p.E353X nonsense 0.00000829●●●●●●
558. 99672684 c.4116A>C p.Q1372H missense 0.00000828●●●●●●
559. 99670997 c.2429A>G p.N810S missense 0.00000828●●●●●●
560. 99672712 c.4144G>T p.D1382Y missense 0.00000828●●●●●●
561. 99669769 c.1201G>C p.G401R missense 0.00000828●●●●●●
562. 99672897 c.4329C>A p.S1443R missense 0.00000828●●●●●●
563. 99672842 c.4274C>T p.T1425I missense 0.00000828●●●●●●
564. 99671069 c.2501C>T p.P834L missense 0.00000828●●●●●●
565. 99672773 c.4205A>G p.H1402R missense 0.00000828●●●●●●
566. 99672695 c.4127C>T p.S1376F missense 0.00000828●●●●●●
567. 99669788 c.1220C>T p.T407I missense 0.00000828●●●●●●
568. 99672662 c.4094T>G p.M1365R missense 0.00000828●●●●●●
569. 99669779 c.1211delC p.Ser405ArgfsTer30 frameshift 0.00000828●●●●●●
570. 99669696 c.1128C>G p.N376K missense 0.00000828●●●●●●
571. 99672824 c.4256G>A p.R1419H missense 0.00000828●●●●●●
572. 99672724 c.4156G>T p.D1386Y missense 0.00000828●●●●●●
573. 99671005 c.2437C>A p.H813N missense 0.00000828●●●●●●
574. 99672613 c.4045G>C p.D1349H missense 0.00000828●●●●●●
575. 99672628 c.4060A>G p.T1354A missense 0.00000828●●●●●●
576. 99669676 c.1108A>G p.S370G missense 0.00000828●●●●●●
577. 99672643 c.4075T>G p.S1359A missense 0.00000828●●●●●●
578. 99671007 c.2439C>G p.H813Q missense 0.00000828●●●●●●
579. 99672850 c.4282C>G p.L1428V missense 0.00000828●●●●●●
580. 99671092 c.2524G>A p.D842N missense 0.00000828●●●●●●
581. 99671072 c.2504A>G p.D835G missense 0.00000828●●●●●●
582. 99672778 c.4210C>T p.R1404X nonsense 0.00000828●●●●●●
583. 99672797 c.4229C>T p.T1410M missense 0.00000828●●●●●●
584. 99672770 c.4202G>C p.R1401T missense 0.00000828●●●●●●
585. 99669808 c.1240T>A p.Y414N missense 0.00000828●●●●●●
586. 99672697 c.4129G>T p.E1377X nonsense 0.00000828●●●●●●
587. 99669791 c.1223C>T p.T408I missense 0.00000828●●●●●●
588. 99672665 c.4097C>A p.T1366N missense 0.00000828●●●●●●
589. 99669719 c.1151A>C p.Q384P missense 0.00000828●●●●●●
590. 99669696 c.1128C>A p.N376K missense 0.00000828●●●●●●
591. 99672926 c.4358G>T p.G1453V missense 0.00000828●●●●●●
592. 99672885 c.4317G>C p.K1439N missense 0.00000828●●●●●●
593. 99672830 c.4262C>T p.P1421L missense 0.00000828●●●●●●
594. 99672731 c.4163C>T p.S1388L missense 0.00000828●●●●●●
595. 99671042 c.2474G>A p.G825D missense 0.00000828●●●●●●
596. 99672631 c.4063_4064insA p.His1355GlnfsTer7 frameshift 0.00000828●●●●●●
597. 99669776 c.1208C>T p.S403F missense 0.00000828●●●●●●
598. 99672653 c.4085A>G p.Q1362R missense 0.00000828●●●●●●
599. 99672803 c.4235C>T p.T1412I missense 0.00000828●●●●●●
600. 99669791 c.1223delC p.Gln409SerfsTer26 frameshift 0.00000828●●●●●●
601. 99672866 c.4298A>G p.D1433G missense 0.00000828●●●●●●
602. 99672806 c.4238C>T p.S1413F missense 0.00000828●●●●●●
603. 99671084 c.2516G>A p.G839E missense 0.00000828●●●●●●
604. 99672800 c.4232A>G p.E1411G missense 0.00000828●●●●●●
605. 99669811 c.1243G>A p.G415R missense 0.00000828●●●●●●
606. 99672704 c.4136C>T p.P1379L missense 0.00000828●●●●●●
607. 99672679 c.4111T>C p.F1371L missense 0.00000828●●●●●●
608. 99669766 c.1198T>C p.S400P missense 0.00000828●●●●●●
609. 99672614 c.4046A>T p.D1349V missense 0.00000828●●●●●●
610. 99672895 c.4327A>C p.S1443R missense 0.00000828●●●●●●
611. 99672920 c.4352C>T p.A1451V missense 0.00000828●●●●●●
612. 99672851 c.4283T>C p.L1428P missense 0.00000828●●●●●●
613. 99671059 c.2491G>C p.V831L missense 0.00000828●●●●●●
614. 99672662 c.4094T>C p.M1365T missense 0.00000828●●●●●●
615. 99669791 c.1223C>A p.T408N missense 0.00000828●●●●●●
616. 99672732 c.4164_4165delAG p.Ala1390ArgfsTer7 frameshift 0.00000828●●●●●●
617. 99669782 c.1214C>T p.S405L missense 0.00000828●●●●●●
618. 99669695 c.1127A>G p.N376S missense 0.00000828●●●●●●
619. 99672826 c.4258G>A p.G1420R missense 0.00000828●●●●●●
620. 99672869 c.4301C>T p.S1434F missense 0.00000828●●●●●●
621. 99672815 c.4247T>C p.I1416T missense 0.00000828●●●●●●

* 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.