NF1 missense variants in ExAC

NF1 gene summary
NF1 variants in

The table below lists the NF1 missense variants found in the ExAC population database. Click on each variant for more details, including presence in the 1000 Genomes and Exome Sequencing Project databases, a breakdown by ethnic class and the variant's role in inherited cardiac disease. Use the form below to customise the variant selection. The table can be sorted by variant location, variant type or ExAC frequency.




No. Genomic coord.✝ Variant (CDS)▼ Variant (Protein) Variant Type▼ ExAC frequency▼Populations*
1. 29653037 c.4972A>G p.I1658V missense 0.00369840●●●●●●
2. 29496957 c.528T>A p.D176E missense 0.00328604●●●●●●
3. 29552200 c.1933A>G p.M645V missense 0.00114658●●●●●●
4. 29552261 c.1994C>T p.S665F missense 0.00073540●●●●●●
5. 29679412 c.7532C>T p.A2511V missense 0.00073304●●●●●●
6. 29679348 c.7468G>C p.V2490L missense 0.00051922●●●●●●
7. 29552243 c.1976G>A p.R659Q missense 0.00048717●●●●●●
8. 29663884 c.6316A>G p.I2106V missense 0.00032953●●●●●●
9. 29553484 c.2033C>T p.P678L missense 0.00029820●●●●●●
10. 29483047 c.107C>G p.T36S missense 0.00028095●●●●●●
11. 29556923 c.2921A>G p.N974S missense 0.00023193●●●●●●
12. 29667530 c.6866C>T p.P2289L missense 0.00020594●●●●●●
13. 29685568 c.7978A>G p.I2660V missense 0.00017327●●●●●●
14. 29552168 c.1901T>C p.I634T missense 0.00017320●●●●●●
15. 29546036 c.1541A>C p.Q514P missense 0.00017038●●●●●●
16. 29553675 c.2224G>T p.A742S missense 0.00016486●●●●●●
17. 29663677 c.6109A>G p.I2037V missense 0.00011732●●●●●●
18. 29587482 c.4463G>A p.R1488H missense 0.00011534●●●●●●
19. 29559839 c.3436G>A p.V1146I missense 0.00010715●●●●●●
20. 29685632 c.8042A>T p.Y2681F missense 0.00010714●●●●●●
21. 29559798 c.3395G>A p.R1132H missense 0.00009889●●●●●●
22. 29562948 c.3883A>G p.T1295A missense 0.00009886●●●●●●
23. 29559887 c.3484A>G p.M1162V missense 0.00009076●●●●●●
24. 29586138 c.4358C>T p.A1453V missense 0.00008431●●●●●●
25. 29664858 c.6601A>G p.T2201A missense 0.00008351●●●●●●
26. 29556318 c.2685G>A p.M895I missense 0.00008241●●●●●●
27. 29664400 c.6379G>A p.V2127I missense 0.00007495●●●●●●
28. 29701048 c.8332G>A p.V2778I missense 0.00007428●●●●●●
29. 29654761 c.5450C>G p.S1817C missense 0.00007414●●●●●●
30. 29676161 c.7150A>G p.I2384V missense 0.00006850●●●●●●
31. 29497004 c.575G>A p.R192Q missense 0.00006732●●●●●●
32. 29554278 c.2294G>A p.R765H missense 0.00006615●●●●●●
33. 29528158 c.1166A>G p.H389R missense 0.00006610●●●●●●
34. 29559761 c.3358G>C p.V1120L missense 0.00006594●●●●●●
35. 29553642 c.2191C>T p.L731F missense 0.00006591●●●●●●
36. 29556394 c.2761G>A p.V921M missense 0.00005771●●●●●●
37. 29653100 c.5035C>T p.L1679F missense 0.00005770●●●●●●
38. 29665119 c.6718C>T p.H2240Y missense 0.00005766●●●●●●
39. 29546083 c.1588G>A p.V530I missense 0.00005197●●●●●●
40. 29585395 c.4144G>A p.G1382S missense 0.00004946●●●●●●
41. 29679337 c.7457C>T p.T2486I missense 0.00004944●●●●●●
42. 29654674 c.5363C>T p.P1788L missense 0.00004942●●●●●●
43. 29687560 c.8153T>C p.I2718T missense 0.00004942●●●●●●
44. 29586143 c.4363C>T p.R1455C missense 0.00004343●●●●●●
45. 29664859 c.6602C>T p.T2201M missense 0.00004176●●●●●●
46. 29653227 c.5162A>G p.N1721S missense 0.00004166●●●●●●
47. 29556206 c.2573C>G p.S858C missense 0.00004134●●●●●●
48. 29576036 c.4009C>T p.R1337W missense 0.00004124●●●●●●
49. 29563035 c.3970A>G p.T1324A missense 0.00004120●●●●●●
50. 29586102 c.4322G>A p.R1441Q missense 0.00003739●●●●●●
51. 29556091 c.2458G>A p.V820M missense 0.00003348●●●●●●
52. 29654538 c.5227G>A p.V1743I missense 0.00003328●●●●●●
53. 29486054 c.231A>T p.K77N missense 0.00003321●●●●●●
54. 29490390 c.475A>G p.T159A missense 0.00003306●●●●●●
55. 29552252 c.1985A>G p.K662R missense 0.00003303●●●●●●
56. 29552161 c.1894T>A p.C632S missense 0.00003300●●●●●●
57. 29552167 c.1900A>G p.I634V missense 0.00003299●●●●●●
58. 29684327 c.7847G>A p.R2616Q missense 0.00003298●●●●●●
59. 29685600 c.8010T>G p.H2670Q missense 0.00003297●●●●●●
60. 29483109 c.169G>A p.G57S missense 0.00003297●●●●●●
61. 29559774 c.3371G>A p.S1124N missense 0.00003297●●●●●●
62. 29559765 c.3362A>G p.E1121G missense 0.00003297●●●●●●
63. 29560209 c.3686A>G p.N1229S missense 0.00003296●●●●●●
64. 29684046 c.7744G>C p.V2582L missense 0.00003295●●●●●●
65. 29677228 c.7286G>A p.R2429Q missense 0.00003295●●●●●●
66. 29553639 c.2188A>T p.N730Y missense 0.00003295●●●●●●
67. 29586074 c.4294G>A p.V1432I missense 0.00002694●●●●●●
68. 29559135 c.3242C>G p.A1081G missense 0.00002652●●●●●●
69. 29546115 c.1620G>T p.E540D missense 0.00002644●●●●●●
70. 29509642 c.847G>T p.D283Y missense 0.00002575●●●●●●
71. 29509639 c.844C>A p.Q282K missense 0.00002569●●●●●●
72. 29497013 c.584A>G p.K195R missense 0.00002567●●●●●●
73. 29483001 c.61C>T p.L21F missense 0.00002537●●●●●●
74. 29653259 c.5194G>A p.V1732I missense 0.00002520●●●●●●
75. 29592288 c.4703C>T p.T1568M missense 0.00002486●●●●●●
76. 29556904 c.2902A>G p.M968V missense 0.00002482●●●●●●
77. 29483040 c.100G>A p.V34I missense 0.00002481●●●●●●
78. 29556218 c.2585C>G p.T862S missense 0.00002477●●●●●●
79. 29552137 c.1870T>C p.F624L missense 0.00002477●●●●●●
80. 29483074 c.134A>G p.N45S missense 0.00002475●●●●●●
81. 29701147 c.8431C>T p.R2811C missense 0.00002474●●●●●●
82. 29585450 c.4199C>T p.P1400L missense 0.00002474●●●●●●
83. 29701132 c.8416G>A p.A2806T missense 0.00002474●●●●●●
84. 29701168 c.8452G>A p.V2818M missense 0.00002474●●●●●●
85. 29483140 c.200A>G p.N67S missense 0.00002473●●●●●●
86. 29483118 c.178A>G p.T60A missense 0.00002473●●●●●●
87. 29587401 c.4382T>C p.I1461T missense 0.00002473●●●●●●
88. 29683507 c.7582T>C p.S2528P missense 0.00002473●●●●●●
89. 29679340 c.7460A>G p.Y2487C missense 0.00002472●●●●●●
90. 29679345 c.7465A>G p.T2489A missense 0.00002472●●●●●●
91. 29661949 c.5843A>T p.Q1948L missense 0.00002472●●●●●●
92. 29556256 c.2623G>A p.G875S missense 0.00002472●●●●●●
93. 29527555 c.1004A>G p.N335S missense 0.00002472●●●●●●
94. 29553652 c.2201A>G p.N734S missense 0.00002472●●●●●●
95. 29667604 c.6940A>G p.T2314A missense 0.00002472●●●●●●
96. 29663821 c.6253G>A p.V2085I missense 0.00002471●●●●●●
97. 29654655 c.5344A>G p.I1782V missense 0.00002471●●●●●●
98. 29654718 c.5407A>G p.I1803V missense 0.00002471●●●●●●
99. 29683981 c.7679C>G p.T2560S missense 0.00002471●●●●●●
100. 29560188 c.3665C>T p.P1222L missense 0.00002471●●●●●●
101. 29665128 c.6727A>T p.I2243L missense 0.00002471●●●●●●
102. 29559110 c.3217A>G p.M1073V missense 0.00002459●●●●●●
103. 29509668 c.873A>C p.E291D missense 0.00001792●●●●●●
104. 29556043 c.2410G>T p.A804S missense 0.00001727●●●●●●
105. 29528456 c.1213A>G p.T405A missense 0.00001675●●●●●●
106. 29483007 c.67A>G p.I23V missense 0.00001674●●●●●●
107. 29509558 c.763G>A p.G255S missense 0.00001666●●●●●●
108. 29556476 c.2843A>G p.Q948R missense 0.00001660●●●●●●
109. 29557366 c.3079G>A p.D1027N missense 0.00001658●●●●●●
110. 29556929 c.2927C>T p.T976I missense 0.00001657●●●●●●
111. 29496970 c.541C>G p.Q181E missense 0.00001657●●●●●●
112. 29585501 c.4250G>A p.G1417D missense 0.00001657●●●●●●
113. 29553483 c.2032C>A p.P678T missense 0.00001657●●●●●●
114. 29553483 c.2032C>T p.P678S missense 0.00001657●●●●●●
115. 29496941 c.512A>G p.N171S missense 0.00001656●●●●●●
116. 29556452 c.2819C>G p.T940S missense 0.00001655●●●●●●
117. 29683591 c.7666T>C p.Y2556H missense 0.00001653●●●●●●
118. 29664424 c.6403T>C p.F2135L missense 0.00001653●●●●●●
119. 29662038 c.5932A>G p.S1978G missense 0.00001653●●●●●●
120. 29664428 c.6407C>T p.S2136L missense 0.00001652●●●●●●
121. 29670099 c.7072G>A p.G2358R missense 0.00001652●●●●●●
122. 29653148 c.5083G>C p.A1695P missense 0.00001652●●●●●●
123. 29556214 c.2581G>C p.A861P missense 0.00001652●●●●●●
124. 29665741 c.6776A>G p.K2259R missense 0.00001652●●●●●●
125. 29664426 c.6405C>G p.F2135L missense 0.00001652●●●●●●
126. 29552242 c.1975C>T p.R659W missense 0.00001651●●●●●●
127. 29670051 c.7024A>G p.I2342V missense 0.00001651●●●●●●
128. 29552239 c.1972C>T p.L658F missense 0.00001651●●●●●●
129. 29701076 c.8360G>C p.C2787S missense 0.00001650●●●●●●
130. 29552152 c.1885G>A p.G629R missense 0.00001650●●●●●●
131. 29552188 c.1921A>G p.S641G missense 0.00001650●●●●●●
132. 29701099 c.8383G>A p.G2795R missense 0.00001650●●●●●●
133. 29554593 c.2378A>C p.N793T missense 0.00001650●●●●●●
134. 29556250 c.2617C>T p.R873C missense 0.00001649●●●●●●
135. 29556322 c.2689C>T p.R897W missense 0.00001649●●●●●●
136. 29683523 c.7598C>T p.P2533L missense 0.00001649●●●●●●
137. 29684318 c.7838T>C p.F2613S missense 0.00001649●●●●●●
138. 29684368 c.7888C>T p.P2630S missense 0.00001649●●●●●●
139. 29553516 c.2065G>A p.V689M missense 0.00001649●●●●●●
140. 29556382 c.2749G>A p.V917I missense 0.00001649●●●●●●
141. 29701132 c.8416G>T p.A2806S missense 0.00001649●●●●●●
142. 29701143 c.8427C>A p.F2809L missense 0.00001649●●●●●●
143. 29585373 c.4122G>T p.Q1374H missense 0.00001649●●●●●●
144. 29556380 c.2747A>G p.N916S missense 0.00001649●●●●●●
145. 29684019 c.7717C>T p.R2573C missense 0.00001648●●●●●●
146. 29652960 c.4895G>A p.R1632H missense 0.00001648●●●●●●
147. 29657369 c.5602G>A p.E1868K missense 0.00001648●●●●●●
148. 29652944 c.4879A>G p.T1627A missense 0.00001648●●●●●●
149. 29553640 c.2189A>C p.N730T missense 0.00001648●●●●●●
150. 29527596 c.1045A>G p.M349V missense 0.00001648●●●●●●
151. 29661984 c.5878A>G p.M1960V missense 0.00001648●●●●●●
152. 29587451 c.4432A>G p.I1478V missense 0.00001648●●●●●●
153. 29654784 c.5473C>T p.R1825W missense 0.00001648●●●●●●
154. 29679301 c.7421C>T p.S2474F missense 0.00001648●●●●●●
155. 29657435 c.5668A>G p.I1890V missense 0.00001648●●●●●●
156. 29679351 c.7471G>A p.G2491S missense 0.00001648●●●●●●
157. 29652947 c.4882G>A p.G1628R missense 0.00001648●●●●●●
158. 29677275 c.7333A>G p.I2445V missense 0.00001648●●●●●●
159. 29653089 c.5024T>C p.L1675P missense 0.00001648●●●●●●
160. 29533366 c.1369C>T p.H457Y missense 0.00001648●●●●●●
161. 29677318 c.7376A>G p.H2459R missense 0.00001648●●●●●●
162. 29679313 c.7433G>T p.G2478V missense 0.00001648●●●●●●
163. 29553609 c.2158C>T p.R720W missense 0.00001648●●●●●●
164. 29652945 c.4880C>T p.T1627I missense 0.00001648●●●●●●
165. 29667607 c.6943G>A p.A2315T missense 0.00001648●●●●●●
166. 29563005 c.3940T>C p.W1314R missense 0.00001648●●●●●●
167. 29587445 c.4426T>C p.S1476P missense 0.00001648●●●●●●
168. 29684020 c.7718G>T p.R2573L missense 0.00001648●●●●●●
169. 29653095 c.5030C>T p.T1677I missense 0.00001648●●●●●●
170. 29679325 c.7445A>G p.Y2482C missense 0.00001648●●●●●●
171. 29654757 c.5446G>A p.D1816N missense 0.00001648●●●●●●
172. 29687581 c.8174T>C p.I2725T missense 0.00001647●●●●●●
173. 29665104 c.6703A>G p.S2235G missense 0.00001647●●●●●●
174. 29687668 c.8261A>C p.N2754T missense 0.00001647●●●●●●
175. 29654629 c.5318T>C p.V1773A missense 0.00001647●●●●●●
176. 29586095 c.4315C>T p.H1439Y missense 0.00001247●●●●●●
177. 29586099 c.4319T>C p.M1440T missense 0.00001244●●●●●●
178. 29586096 c.4316A>G p.H1439R missense 0.00001243●●●●●●
179. 29559113 c.3220G>A p.E1074K missense 0.00001175●●●●●●
180. 29676186 c.7175T>C p.L2392S missense 0.00001156●●●●●●
181. 29676201 c.7190C>T p.T2397I missense 0.00000971●●●●●●
182. 29546036 c.1541A>G p.Q514R missense 0.00000947●●●●●●
183. 29557921 c.3175G>C p.D1059H missense 0.00000925●●●●●●
184. 29676210 c.7199A>G p.N2400S missense 0.00000917●●●●●●
185. 29546044 c.1549G>A p.E517K missense 0.00000914●●●●●●
186. 29509673 c.878A>C p.N293T missense 0.00000903●●●●●●
187. 29546048 c.1553C>T p.T518I missense 0.00000902●●●●●●
188. 29676215 c.7204C>T p.H2402Y missense 0.00000900●●●●●●
189. 29663680 c.6112G>A p.D2038N missense 0.00000889●●●●●●
190. 29676224 c.7213T>G p.C2405G missense 0.00000882●●●●●●
191. 29509661 c.866T>C p.V289A missense 0.00000879●●●●●●
192. 29509657 c.862G>A p.V288M missense 0.00000874●●●●●●
193. 29676246 c.7235C>T p.T2412I missense 0.00000865●●●●●●
194. 29679429 c.7549C>T p.L2517F missense 0.00000859●●●●●●
195. 29548878 c.1652T>A p.V551D missense 0.00000848●●●●●●
196. 29548888 c.1662G>T p.Q554H missense 0.00000844●●●●●●
197. 29556067 c.2434A>C p.I812L missense 0.00000842●●●●●●
198. 29653265 c.5200A>G p.I1734V missense 0.00000841●●●●●●
199. 29585518 c.4267A>G p.K1423E missense 0.00000840●●●●●●
200. 29541520 c.1444A>G p.T482A missense 0.00000839●●●●●●
201. 29556080 c.2447G>A p.R816Q missense 0.00000838●●●●●●
202. 29686025 c.8089T>C p.F2697L missense 0.00000838●●●●●●
203. 29664840 c.6583T>A p.C2195S missense 0.00000838●●●●●●
204. 29653246 c.5181C>G p.H1727Q missense 0.00000838●●●●●●
205. 29679417 c.7537A>G p.T2513A missense 0.00000837●●●●●●
206. 29686023 c.8087C>T p.P2696L missense 0.00000837●●●●●●
207. 29664865 c.6608A>G p.K2203R missense 0.00000836●●●●●●
208. 29679415 c.7535A>C p.N2512T missense 0.00000835●●●●●●
209. 29553463 c.2012C>G p.A671G missense 0.00000835●●●●●●
210. 29664852 c.6595A>G p.I2199V missense 0.00000835●●●●●●
211. 29557285 c.2998C>T p.R1000C missense 0.00000835●●●●●●
212. 29556109 c.2476A>G p.I826V missense 0.00000835●●●●●●
213. 29679415 c.7535A>G p.N2512S missense 0.00000835●●●●●●
214. 29556134 c.2501T>G p.L834R missense 0.00000834●●●●●●
215. 29509579 c.784C>T p.R262C missense 0.00000834●●●●●●
216. 29557286 c.2999G>A p.R1000H missense 0.00000834●●●●●●
217. 29556148 c.2515A>G p.N839D missense 0.00000833●●●●●●
218. 29556151 c.2518A>C p.M840L missense 0.00000833●●●●●●
219. 29553466 c.2015G>T p.G672V missense 0.00000833●●●●●●
220. 29509561 c.766T>G p.F256V missense 0.00000833●●●●●●
221. 29653223 c.5158C>A p.H1720N missense 0.00000833●●●●●●
222. 29559185 c.3292G>C p.A1098P missense 0.00000832●●●●●●
223. 29550571 c.1831C>T p.L611F missense 0.00000832●●●●●●
224. 29496991 c.562G>A p.A188T missense 0.00000832●●●●●●
225. 29556172 c.2539C>T p.L847F missense 0.00000832●●●●●●
226. 29483016 c.76G>A p.G26R missense 0.00000832●●●●●●
227. 29557304 c.3017T>C p.V1006A missense 0.00000831●●●●●●
228. 29496989 c.560G>T p.C187F missense 0.00000831●●●●●●
229. 29653210 c.5145C>A p.D1715E missense 0.00000831●●●●●●
230. 29557390 c.3103A>G p.M1035V missense 0.00000831●●●●●●
231. 29557392 c.3105G>A p.M1035I missense 0.00000831●●●●●●
232. 29654541 c.5230A>G p.T1744A missense 0.00000831●●●●●●
233. 29486062 c.239A>T p.Y80F missense 0.00000830●●●●●●
234. 29483022 c.82C>G p.Q28E missense 0.00000830●●●●●●
235. 29576003 c.3976T>A p.L1326I missense 0.00000830●●●●●●
236. 29556965 c.2963T>C p.I988T missense 0.00000830●●●●●●
237. 29486062 c.239A>G p.Y80C missense 0.00000830●●●●●●
238. 29670134 c.7107G>T p.L2369F missense 0.00000830●●●●●●
239. 29556187 c.2554C>T p.L852F missense 0.00000829●●●●●●
240. 29654547 c.5236G>A p.A1746T missense 0.00000829●●●●●●
241. 29508494 c.641A>G p.N214S missense 0.00000829●●●●●●
242. 29592315 c.4730C>A p.T1577N missense 0.00000829●●●●●●
243. 29508472 c.619G>A p.V207I missense 0.00000829●●●●●●
244. 29490208 c.293C>G p.P98R missense 0.00000829●●●●●●
245. 29486068 c.245C>T p.S82F missense 0.00000829●●●●●●
246. 29592278 c.4693G>T p.A1565S missense 0.00000829●●●●●●
247. 29592323 c.4738G>A p.A1580T missense 0.00000829●●●●●●
248. 29553483 c.2032C>G p.P678A missense 0.00000828●●●●●●
249. 29508484 c.631G>A p.A211T missense 0.00000828●●●●●●
250. 29592297 c.4712T>C p.I1571T missense 0.00000828●●●●●●
251. 29653181 c.5116C>T p.P1706S missense 0.00000828●●●●●●
252. 29486079 c.256A>G p.I86V missense 0.00000828●●●●●●
253. 29554241 c.2257G>A p.A753T missense 0.00000828●●●●●●
254. 29528079 c.1087C>A p.P363T missense 0.00000828●●●●●●
255. 29670123 c.7096A>C p.N2366H missense 0.00000828●●●●●●
256. 29496958 c.529A>G p.I177V missense 0.00000828●●●●●●
257. 29508476 c.623C>T p.A208V missense 0.00000828●●●●●●
258. 29653169 c.5104C>G p.Q1702E missense 0.00000828●●●●●●
259. 29550541 c.1801C>T p.R601W missense 0.00000828●●●●●●
260. 29490211 c.296A>G p.K99R missense 0.00000828●●●●●●
261. 29554266 c.2282C>T p.A761V missense 0.00000827●●●●●●
262. 29554620 c.2405G>A p.G802D missense 0.00000827●●●●●●
263. 29528175 c.1183A>G p.K395E missense 0.00000827●●●●●●
264. 29667656 c.6992A>G p.N2331S missense 0.00000827●●●●●●
265. 29653163 c.5098C>T p.H1700Y missense 0.00000827●●●●●●
266. 29653162 c.5097G>T p.E1699D missense 0.00000827●●●●●●
267. 29554256 c.2272A>G p.R758G missense 0.00000827●●●●●●
268. 29556452 c.2819C>A p.T940N missense 0.00000827●●●●●●
269. 29552266 c.1999A>G p.M667V missense 0.00000827●●●●●●
270. 29490381 c.466C>G p.R156G missense 0.00000826●●●●●●
271. 29550509 c.1769T>C p.M590T missense 0.00000826●●●●●●
272. 29490390 c.475A>C p.T159P missense 0.00000826●●●●●●
273. 29552129 c.1862C>G p.S621C missense 0.00000826●●●●●●
274. 29490219 c.304A>G p.M102V missense 0.00000826●●●●●●
275. 29657493 c.5726G>A p.C1909Y missense 0.00000826●●●●●●
276. 29553699 c.2248A>G p.T750A missense 0.00000826●●●●●●
277. 29585491 c.4240A>C p.I1414L missense 0.00000826●●●●●●
278. 29490381 c.466C>T p.R156C missense 0.00000826●●●●●●
279. 29667646 c.6982C>G p.R2328G missense 0.00000826●●●●●●
280. 29552134 c.1867C>T p.H623Y missense 0.00000826●●●●●●
281. 29556861 c.2859G>T p.L953F missense 0.00000826●●●●●●
282. 29552258 c.1991A>G p.N664S missense 0.00000826●●●●●●
283. 29550515 c.1775G>A p.S592N missense 0.00000826●●●●●●
284. 29490382 c.467G>T p.R156L missense 0.00000826●●●●●●
285. 29556424 c.2791C>G p.P931A missense 0.00000826●●●●●●
286. 29670088 c.7061A>G p.D2354G missense 0.00000826●●●●●●
287. 29528148 c.1156A>G p.I386V missense 0.00000826●●●●●●
288. 29552132 c.1865G>A p.C622Y missense 0.00000826●●●●●●
289. 29490382 c.467G>A p.R156H missense 0.00000826●●●●●●
290. 29550494 c.1754T>C p.L585S missense 0.00000826●●●●●●
291. 29670096 c.7069G>C p.V2357L missense 0.00000826●●●●●●
292. 29679367 c.7487G>C p.R2496P missense 0.00000825●●●●●●
293. 29552203 c.1936G>T p.D646Y missense 0.00000825●●●●●●
294. 29552222 c.1955G>A p.R652H missense 0.00000825●●●●●●
295. 29508752 c.679T>C p.Y227H missense 0.00000825●●●●●●
296. 29683562 c.7637C>A p.P2546H missense 0.00000825●●●●●●
297. 29559888 c.3485T>G p.M1162R missense 0.00000825●●●●●●
298. 29701058 c.8342C>T p.S2781F missense 0.00000825●●●●●●
299. 29559893 c.3490T>G p.S1164A missense 0.00000825●●●●●●
300. 29701105 c.8389G>A p.A2797T missense 0.00000825●●●●●●
301. 29552174 c.1907C>G p.S636C missense 0.00000825●●●●●●
302. 29552155 c.1888G>A p.V630I missense 0.00000825●●●●●●
303. 29701148 c.8432G>A p.R2811H missense 0.00000825●●●●●●
304. 29554547 c.2332G>C p.E778Q missense 0.00000825●●●●●●
305. 29588833 c.4619G>A p.S1540N missense 0.00000825●●●●●●
306. 29554596 c.2381A>C p.Y794S missense 0.00000825●●●●●●
307. 29585366 c.4115T>A p.V1372D missense 0.00000825●●●●●●
308. 29552227 c.1960C>T p.P654S missense 0.00000825●●●●●●
309. 29508768 c.695C>T p.T232I missense 0.00000825●●●●●●
310. 29653117 c.5052G>C p.R1684S missense 0.00000825●●●●●●
311. 29701139 c.8423G>A p.S2808N missense 0.00000825●●●●●●
312. 29679367 c.7487G>A p.R2496Q missense 0.00000825●●●●●●
313. 29490238 c.323T>C p.M108T missense 0.00000825●●●●●●
314. 29701060 c.8344C>A p.P2782T missense 0.00000825●●●●●●
315. 29554554 c.2339C>A p.T780K missense 0.00000825●●●●●●
316. 29684366 c.7886T>G p.F2629C missense 0.00000825●●●●●●
317. 29670033 c.7006G>A p.E2336K missense 0.00000825●●●●●●
318. 29552158 c.1891G>A p.G631R missense 0.00000825●●●●●●
319. 29585440 c.4189A>G p.I1397V missense 0.00000825●●●●●●
320. 29552177 c.1910G>C p.S637T missense 0.00000825●●●●●●
321. 29559870 c.3467A>G p.N1156S missense 0.00000825●●●●●●
322. 29701153 c.8437A>G p.S2813G missense 0.00000825●●●●●●
323. 29588847 c.4633A>G p.S1545G missense 0.00000825●●●●●●
324. 29554598 c.2383C>T p.P795S missense 0.00000825●●●●●●
325. 29554558 c.2343T>G p.H781Q missense 0.00000825●●●●●●
326. 29585473 c.4222A>G p.K1408E missense 0.00000825●●●●●●
327. 29552234 c.1967C>A p.A656D missense 0.00000825●●●●●●
328. 29684094 c.7792C>T p.L2598F missense 0.00000825●●●●●●
329. 29556230 c.2597C>T p.P866L missense 0.00000825●●●●●●
330. 29683562 c.7637C>G p.P2546R missense 0.00000825●●●●●●
331. 29653118 c.5053C>T p.L1685F missense 0.00000825●●●●●●
332. 29490355 c.440G>T p.C147F missense 0.00000825●●●●●●
333. 29483085 c.145T>A p.Y49N missense 0.00000825●●●●●●
334. 29664597 c.6576G>T p.M2192I missense 0.00000825●●●●●●
335. 29685572 c.7982A>G p.H2661R missense 0.00000825●●●●●●
336. 29552206 c.1939C>T p.H647Y missense 0.00000825●●●●●●
337. 29508750 c.677A>C p.N226T missense 0.00000825●●●●●●
338. 29559864 c.3461A>G p.N1154S missense 0.00000825●●●●●●
339. 29559887 c.3484A>T p.M1162L missense 0.00000825●●●●●●
340. 29554601 c.2386A>G p.K796E missense 0.00000825●●●●●●
341. 29701052 c.8336A>G p.E2779G missense 0.00000825●●●●●●
342. 29684296 c.7816G>A p.V2606I missense 0.00000825●●●●●●
343. 29667628 c.6964C>T p.H2322Y missense 0.00000825●●●●●●
344. 29585474 c.4223A>G p.K1408R missense 0.00000825●●●●●●
345. 29653127 c.5062A>G p.I1688V missense 0.00000825●●●●●●
346. 29552144 c.1877T>C p.L626P missense 0.00000825●●●●●●
347. 29560149 c.3626T>C p.V1209A missense 0.00000824●●●●●●
348. 29664529 c.6508T>C p.S2170P missense 0.00000824●●●●●●
349. 29490309 c.394G>A p.A132T missense 0.00000824●●●●●●
350. 29556276 c.2643G>A p.M881I missense 0.00000824●●●●●●
351. 29560196 c.3673A>G p.M1225V missense 0.00000824●●●●●●
352. 29687658 c.8251A>G p.I2751V missense 0.00000824●●●●●●
353. 29677335 c.7393A>G p.R2465G missense 0.00000824●●●●●●
354. 29667610 c.6946C>T p.L2316F missense 0.00000824●●●●●●
355. 29677303 c.7361C>T p.T2454I missense 0.00000824●●●●●●
356. 29663436 c.6029T>G p.M2010R missense 0.00000824●●●●●●
357. 29588803 c.4589A>G p.H1530R missense 0.00000824●●●●●●
358. 29559797 c.3394C>T p.R1132C missense 0.00000824●●●●●●
359. 29533304 c.1307C>T p.S436L missense 0.00000824●●●●●●
360. 29490289 c.374G>A p.R125H missense 0.00000824●●●●●●
361. 29685592 c.8002G>A p.V2668M missense 0.00000824●●●●●●
362. 29587393 c.4374C>G p.F1458L missense 0.00000824●●●●●●
363. 29527522 c.971G>C p.C324S missense 0.00000824●●●●●●
364. 29665144 c.6743G>C p.R2248P missense 0.00000824●●●●●●
365. 29657393 c.5626G>A p.G1876S missense 0.00000824●●●●●●
366. 29576124 c.4097A>T p.H1366L missense 0.00000824●●●●●●
367. 29684070 c.7768A>G p.T2590A missense 0.00000824●●●●●●
368. 29684032 c.7730T>C p.V2577A missense 0.00000824●●●●●●
369. 29667553 c.6889G>T p.V2297L missense 0.00000824●●●●●●
370. 29585378 c.4127T>A p.F1376Y missense 0.00000824●●●●●●
371. 29562770 c.3850A>G p.I1284V missense 0.00000824●●●●●●
372. 29653073 c.5008A>G p.K1670E missense 0.00000824●●●●●●
373. 29562731 c.3811A>G p.M1271V missense 0.00000824●●●●●●
374. 29553586 c.2135A>G p.H712R missense 0.00000824●●●●●●
375. 29533377 c.1380A>G p.I460M missense 0.00000824●●●●●●
376. 29587437 c.4418A>G p.H1473R missense 0.00000824●●●●●●
377. 29687638 c.8231C>T p.A2744V missense 0.00000824●●●●●●
378. 29677248 c.7306C>T p.H2436Y missense 0.00000824●●●●●●
379. 29527488 c.937A>T p.S313C missense 0.00000824●●●●●●
380. 29654703 c.5392G>A p.A1798T missense 0.00000824●●●●●●
381. 29654671 c.5360C>T p.T1787M missense 0.00000824●●●●●●
382. 29684002 c.7700A>G p.Q2567R missense 0.00000824●●●●●●
383. 29665144 c.6743G>A p.R2248H missense 0.00000824●●●●●●
384. 29556275 c.2642T>C p.M881T missense 0.00000824●●●●●●
385. 29664494 c.6473G>T p.R2158L missense 0.00000824●●●●●●
386. 29653002 c.4937C>G p.P1646R missense 0.00000824●●●●●●
387. 29560224 c.3701C>T p.S1234F missense 0.00000824●●●●●●
388. 29664530 c.6509C>G p.S2170C missense 0.00000824●●●●●●
389. 29559761 c.3358G>A p.V1120I missense 0.00000824●●●●●●
390. 29533349 c.1352T>G p.V451G missense 0.00000824●●●●●●
391. 29677273 c.7331A>G p.D2444G missense 0.00000824●●●●●●
392. 29687668 c.8261A>G p.N2754S missense 0.00000824●●●●●●
393. 29483143 c.203T>C p.M68T missense 0.00000824●●●●●●
394. 29677311 c.7369A>G p.I2457V missense 0.00000824●●●●●●
395. 29687526 c.8119G>A p.A2707T missense 0.00000824●●●●●●
396. 29657384 c.5617G>C p.E1873Q missense 0.00000824●●●●●●
397. 29587398 c.4379A>G p.D1460G missense 0.00000824●●●●●●
398. 29667559 c.6895G>A p.V2299M missense 0.00000824●●●●●●
399. 29556373 c.2740C>T p.R914W missense 0.00000824●●●●●●
400. 29559783 c.3380C>T p.T1127I missense 0.00000824●●●●●●
401. 29684080 c.7778A>G p.K2593R missense 0.00000824●●●●●●
402. 29562736 c.3816G>C p.Q1272H missense 0.00000824●●●●●●
403. 29560113 c.3590C>G p.A1197G missense 0.00000824●●●●●●
404. 29683537 c.7612A>G p.M2538V missense 0.00000824●●●●●●
405. 29562976 c.3911T>C p.L1304S missense 0.00000824●●●●●●
406. 29533383 c.1386G>C p.M462I missense 0.00000824●●●●●●
407. 29560184 c.3661C>G p.L1221V missense 0.00000824●●●●●●
408. 29560074 c.3551C>G p.T1184R missense 0.00000824●●●●●●
409. 29490318 c.403C>T p.R135W missense 0.00000824●●●●●●
410. 29661994 c.5888A>G p.N1963S missense 0.00000824●●●●●●
411. 29587440 c.4421G>C p.S1474T missense 0.00000824●●●●●●
412. 29687640 c.8233C>G p.L2745V missense 0.00000824●●●●●●
413. 29687582 c.8175T>G p.I2725M missense 0.00000824●●●●●●
414. 29654720 c.5409C>G p.I1803M missense 0.00000824●●●●●●
415. 29527494 c.943C>A p.Q315K missense 0.00000824●●●●●●
416. 29685610 c.8020C>T p.P2674S missense 0.00000824●●●●●●
417. 29657348 c.5581T>C p.C1861R missense 0.00000824●●●●●●
418. 29684013 c.7711C>A p.H2571N missense 0.00000824●●●●●●
419. 29576102 c.4075C>A p.P1359T missense 0.00000824●●●●●●
420. 29556307 c.2674A>T p.S892C missense 0.00000824●●●●●●
421. 29664559 c.6538T>A p.S2180T missense 0.00000824●●●●●●
422. 29664514 c.6493T>G p.S2165A missense 0.00000824●●●●●●
423. 29653028 c.4963G>A p.A1655T missense 0.00000824●●●●●●
424. 29562714 c.3794T>A p.V1265E missense 0.00000824●●●●●●
425. 29687566 c.8159C>T p.T2720M missense 0.00000824●●●●●●
426. 29663839 c.6271G>A p.A2091T missense 0.00000824●●●●●●
427. 29663767 c.6199C>G p.L2067V missense 0.00000824●●●●●●
428. 29527560 c.1009G>A p.E337K missense 0.00000824●●●●●●
429. 29687527 c.8120C>T p.A2707V missense 0.00000824●●●●●●
430. 29661909 c.5803C>G p.L1935V missense 0.00000824●●●●●●
431. 29661939 c.5833G>A p.A1945T missense 0.00000824●●●●●●
432. 29657433 c.5666C>G p.S1889C missense 0.00000824●●●●●●
433. 29556374 c.2741G>A p.R914Q missense 0.00000824●●●●●●
434. 29562992 c.3927C>G p.I1309M missense 0.00000824●●●●●●
435. 29556257 c.2624G>T p.G875V missense 0.00000824●●●●●●
436. 29562755 c.3835A>G p.S1279G missense 0.00000824●●●●●●
437. 29490282 c.367A>G p.T123A missense 0.00000824●●●●●●
438. 29556266 c.2633T>C p.I878T missense 0.00000824●●●●●●
439. 29679363 c.7483C>T p.P2495S missense 0.00000824●●●●●●
440. 29652957 c.4892A>G p.N1631S missense 0.00000824●●●●●●
441. 29560086 c.3563A>T p.Q1188L missense 0.00000824●●●●●●
442. 29687583 c.8176G>C p.D2726H missense 0.00000824●●●●●●
443. 29677276 c.7334T>C p.I2445T missense 0.00000824●●●●●●
444. 29663426 c.6019G>A p.A2007T missense 0.00000824●●●●●●
445. 29588766 c.4552A>T p.M1518L missense 0.00000824●●●●●●
446. 29559791 c.3388A>G p.R1130G missense 0.00000824●●●●●●
447. 29533264 c.1267T>A p.L423M missense 0.00000824●●●●●●
448. 29687651 c.8244G>T p.Q2748H missense 0.00000824●●●●●●
449. 29677314 c.7372C>G p.H2458D missense 0.00000824●●●●●●
450. 29527515 c.964A>G p.I322V missense 0.00000824●●●●●●
451. 29657351 c.5584A>T p.T1862S missense 0.00000824●●●●●●
452. 29684049 c.7747C>G p.L2583V missense 0.00000824●●●●●●
453. 29560089 c.3566A>G p.Q1189R missense 0.00000824●●●●●●
454. 29667523 c.6859G>A p.D2287N missense 0.00000824●●●●●●
455. 29585375 c.4124G>A p.R1375H missense 0.00000824●●●●●●
456. 29576117 c.4090G>A p.V1364M missense 0.00000824●●●●●●
457. 29664574 c.6553A>G p.T2185A missense 0.00000824●●●●●●
458. 29653041 c.4976A>G p.Y1659C missense 0.00000824●●●●●●
459. 29562722 c.3802G>T p.A1268S missense 0.00000824●●●●●●
460. 29663807 c.6239C>T p.P2080L missense 0.00000824●●●●●●
461. 29533370 c.1373C>A p.P458Q missense 0.00000824●●●●●●
462. 29679304 c.7424C>G p.S2475C missense 0.00000824●●●●●●
463. 29663843 c.6275C>T p.T2092I missense 0.00000824●●●●●●
464. 29677233 c.7291C>T p.R2431C missense 0.00000824●●●●●●
465. 29527570 c.1019C>G p.S340C missense 0.00000824●●●●●●
466. 29677225 c.7283T>A p.V2428D missense 0.00000824●●●●●●
467. 29661978 c.5872A>G p.I1958V missense 0.00000824●●●●●●
468. 29661940 c.5834C>T p.A1945V missense 0.00000824●●●●●●
469. 29657456 c.5689A>G p.N1897D missense 0.00000824●●●●●●
470. 29587426 c.4407T>A p.D1469E missense 0.00000824●●●●●●
471. 29587404 c.4385C>T p.A1462V missense 0.00000824●●●●●●
472. 29563020 c.3955T>C p.F1319L missense 0.00000824●●●●●●
473. 29556262 c.2629A>G p.M877V missense 0.00000824●●●●●●
474. 29556242 c.2609T>C p.V870A missense 0.00000824●●●●●●
475. 29683996 c.7694C>T p.S2565L 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.