NF1 variants in ExAC

NF1 gene summary
NF1 variants in

The table below lists the NF1 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. 29663499 c.6084+8C>G splice site 0.00142751●●●●●●
4. 29560021 c.3498C>T p.G1166G splice site 0.00124440●●●●●●
5. 29552200 c.1933A>G p.M645V missense 0.00114658●●●●●●
6. 29587544 c.4514+11C>G splice site 0.00088986●●●●●●
7. 29552261 c.1994C>T p.S665F missense 0.00073540●●●●●●
8. 29679412 c.7532C>T p.A2511V missense 0.00073304●●●●●●
9. 29585352 c.4111-10_4111-8delTTG splice site 0.00055276●●●●●●
10. 29679348 c.7468G>C p.V2490L missense 0.00051922●●●●●●
11. 29552243 c.1976G>A p.R659Q missense 0.00048717●●●●●●
12. 29509520 c.731-6A>C splice site 0.00035902●●●●●●
13. 29663884 c.6316A>G p.I2106V missense 0.00032953●●●●●●
14. 29553484 c.2033C>T p.P678L missense 0.00029820●●●●●●
15. 29483047 c.107C>G p.T36S missense 0.00028095●●●●●●
16. 29556923 c.2921A>G p.N974S missense 0.00023193●●●●●●
17. 29667530 c.6866C>T p.P2289L missense 0.00020594●●●●●●
18. 29663502 c.6084+11T>C splice site 0.00019809●●●●●●
19. 29685568 c.7978A>G p.I2660V missense 0.00017327●●●●●●
20. 29552168 c.1901T>C p.I634T missense 0.00017320●●●●●●
21. 29546036 c.1541A>C p.Q514P missense 0.00017038●●●●●●
22. 29553675 c.2224G>T p.A742S missense 0.00016486●●●●●●
23. 29663677 c.6109A>G p.I2037V missense 0.00011732●●●●●●
24. 29587482 c.4463G>A p.R1488H missense 0.00011534●●●●●●
25. 29559839 c.3436G>A p.V1146I missense 0.00010715●●●●●●
26. 29685632 c.8042A>T p.Y2681F missense 0.00010714●●●●●●
27. 29665168 c.6756+11C>T splice site 0.00010711●●●●●●
28. 29559798 c.3395G>A p.R1132H missense 0.00009889●●●●●●
29. 29562948 c.3883A>G p.T1295A missense 0.00009886●●●●●●
30. 29509688 c.888+5G>A splice site 0.00009493●●●●●●
31. 29559887 c.3484A>G p.M1162V missense 0.00009076●●●●●●
32. 29586138 c.4358C>T p.A1453V missense 0.00008431●●●●●●
33. 29664858 c.6601A>G p.T2201A missense 0.00008351●●●●●●
34. 29556318 c.2685G>A p.M895I missense 0.00008241●●●●●●
35. 29557945 c.3197+2_3197+3insA splice site 0.00007886●●●●●●
36. 29664400 c.6379G>A p.V2127I missense 0.00007495●●●●●●
37. 29701048 c.8332G>A p.V2778I missense 0.00007428●●●●●●
38. 29654761 c.5450C>G p.S1817C missense 0.00007414●●●●●●
39. 29664383 c.6365-3C>T splice site 0.00006858●●●●●●
40. 29676161 c.7150A>G p.I2384V missense 0.00006850●●●●●●
41. 29497004 c.575G>A p.R192Q missense 0.00006732●●●●●●
42. 29554278 c.2294G>A p.R765H missense 0.00006615●●●●●●
43. 29528158 c.1166A>G p.H389R missense 0.00006610●●●●●●
44. 29559761 c.3358G>C p.V1120L missense 0.00006594●●●●●●
45. 29553642 c.2191C>T p.L731F missense 0.00006591●●●●●●
46. 29553478 c.2027dupC p.Ile679AspfsTer21 frameshift 0.00005811●●●●●●
47. 29556394 c.2761G>A p.V921M missense 0.00005771●●●●●●
48. 29653100 c.5035C>T p.L1679F missense 0.00005770●●●●●●
49. 29562621 c.3709-8G>C splice site 0.00005769●●●●●●
50. 29665119 c.6718C>T p.H2240Y missense 0.00005766●●●●●●
51. 29676136 c.7127-2A>T essential splice site 0.00005444●●●●●●
52. 29546083 c.1588G>A p.V530I missense 0.00005197●●●●●●
53. 29557274 c.2991-4A>G splice site 0.00005022●●●●●●
54. 29585395 c.4144G>A p.G1382S missense 0.00004946●●●●●●
55. 29679337 c.7457C>T p.T2486I missense 0.00004944●●●●●●
56. 29687560 c.8153T>C p.I2718T missense 0.00004942●●●●●●
57. 29654674 c.5363C>T p.P1788L missense 0.00004942●●●●●●
58. 29586143 c.4363C>T p.R1455C missense 0.00004343●●●●●●
59. 29664859 c.6602C>T p.T2201M missense 0.00004176●●●●●●
60. 29653227 c.5162A>G p.N1721S missense 0.00004166●●●●●●
61. 29556206 c.2573C>G p.S858C missense 0.00004134●●●●●●
62. 29663499 c.6084+8C>T splice site 0.00004126●●●●●●
63. 29576036 c.4009C>T p.R1337W missense 0.00004124●●●●●●
64. 29563035 c.3970A>G p.T1324A missense 0.00004120●●●●●●
65. 29533394 c.1392+5G>T splice site 0.00004120●●●●●●
66. 29533395 c.1392+6A>T splice site 0.00004120●●●●●●
67. 29665161 c.6756+4C>T splice site 0.00004119●●●●●●
68. 29586102 c.4322G>A p.R1441Q missense 0.00003739●●●●●●
69. 29528425 c.1186-4A>G splice site 0.00003371●●●●●●
70. 29556091 c.2458G>A p.V820M missense 0.00003348●●●●●●
71. 29575998 c.3975-4G>A splice site 0.00003332●●●●●●
72. 29654538 c.5227G>A p.V1743I missense 0.00003328●●●●●●
73. 29486054 c.231A>T p.K77N missense 0.00003321●●●●●●
74. 29554629 c.2409+5G>C splice site 0.00003320●●●●●●
75. 29528052 c.1063-3T>C splice site 0.00003317●●●●●●
76. 29490390 c.475A>G p.T159A missense 0.00003306●●●●●●
77. 29552252 c.1985A>G p.K662R missense 0.00003303●●●●●●
78. 29552161 c.1894T>A p.C632S missense 0.00003300●●●●●●
79. 29677344 c.7394+8G>T splice site 0.00003299●●●●●●
80. 29552167 c.1900A>G p.I634V missense 0.00003299●●●●●●
81. 29684327 c.7847G>A p.R2616Q missense 0.00003298●●●●●●
82. 29559765 c.3362A>G p.E1121G missense 0.00003297●●●●●●
83. 29685600 c.8010T>G p.H2670Q missense 0.00003297●●●●●●
84. 29483109 c.169G>A p.G57S missense 0.00003297●●●●●●
85. 29559774 c.3371G>A p.S1124N missense 0.00003297●●●●●●
86. 29560209 c.3686A>G p.N1229S missense 0.00003296●●●●●●
87. 29553639 c.2188A>T p.N730Y missense 0.00003295●●●●●●
88. 29576141 c.4110+4T>C splice site 0.00003295●●●●●●
89. 29677228 c.7286G>A p.R2429Q missense 0.00003295●●●●●●
90. 29684046 c.7744G>C p.V2582L missense 0.00003295●●●●●●
91. 29676131 c.7127-7T>G splice site 0.00002863●●●●●●
92. 29676133 c.7127-5T>C splice site 0.00002823●●●●●●
93. 29586074 c.4294G>A p.V1432I missense 0.00002694●●●●●●
94. 29559135 c.3242C>G p.A1081G missense 0.00002652●●●●●●
95. 29546115 c.1620G>T p.E540D missense 0.00002644●●●●●●
96. 29509642 c.847G>T p.D283Y missense 0.00002575●●●●●●
97. 29676139 c.7128G>A splice site 0.00002573●●●●●●
98. 29509639 c.844C>A p.Q282K missense 0.00002569●●●●●●
99. 29497013 c.584A>G p.K195R missense 0.00002567●●●●●●
100. 29483001 c.61C>T p.L21F missense 0.00002537●●●●●●
101. 29653259 c.5194G>A p.V1732I missense 0.00002520●●●●●●
102. 29559715 c.3315-3C>T splice site 0.00002497●●●●●●
103. 29592288 c.4703C>T p.T1568M missense 0.00002486●●●●●●
104. 29556904 c.2902A>G p.M968V missense 0.00002482●●●●●●
105. 29483040 c.100G>A p.V34I missense 0.00002481●●●●●●
106. 29559907 c.3496+8C>T splice site 0.00002480●●●●●●
107. 29652835 c.4773-3T>C splice site 0.00002479●●●●●●
108. 29556218 c.2585C>G p.T862S missense 0.00002477●●●●●●
109. 29552137 c.1870T>C p.F624L missense 0.00002477●●●●●●
110. 29483074 c.134A>G p.N45S missense 0.00002475●●●●●●
111. 29701147 c.8431C>T p.R2811C missense 0.00002474●●●●●●
112. 29684279 c.7807-8C>A splice site 0.00002474●●●●●●
113. 29701168 c.8452G>A p.V2818M missense 0.00002474●●●●●●
114. 29585450 c.4199C>T p.P1400L missense 0.00002474●●●●●●
115. 29701132 c.8416G>A p.A2806T missense 0.00002474●●●●●●
116. 29483140 c.200A>G p.N67S missense 0.00002473●●●●●●
117. 29483118 c.178A>G p.T60A missense 0.00002473●●●●●●
118. 29587401 c.4382T>C p.I1461T missense 0.00002473●●●●●●
119. 29683507 c.7582T>C p.S2528P missense 0.00002473●●●●●●
120. 29527555 c.1004A>G p.N335S missense 0.00002472●●●●●●
121. 29679345 c.7465A>G p.T2489A missense 0.00002472●●●●●●
122. 29667604 c.6940A>G p.T2314A missense 0.00002472●●●●●●
123. 29679340 c.7460A>G p.Y2487C missense 0.00002472●●●●●●
124. 29562932 c.3871-4G>C splice site 0.00002472●●●●●●
125. 29556256 c.2623G>A p.G875S missense 0.00002472●●●●●●
126. 29553652 c.2201A>G p.N734S missense 0.00002472●●●●●●
127. 29661949 c.5843A>T p.Q1948L missense 0.00002472●●●●●●
128. 29677218 c.7276_7278delGAA p.Glu2426del inframe 0.00002471●●●●●●
129. 29654655 c.5344A>G p.I1782V missense 0.00002471●●●●●●
130. 29663821 c.6253G>A p.V2085I missense 0.00002471●●●●●●
131. 29677260 c.7318_7320delCTT p.Leu2440del inframe 0.00002471●●●●●●
132. 29683981 c.7679C>G p.T2560S missense 0.00002471●●●●●●
133. 29560188 c.3665C>T p.P1222L missense 0.00002471●●●●●●
134. 29654718 c.5407A>G p.I1803V missense 0.00002471●●●●●●
135. 29665164 c.6756+7G>C splice site 0.00002471●●●●●●
136. 29665128 c.6727A>T p.I2243L missense 0.00002471●●●●●●
137. 29559110 c.3217A>G p.M1073V missense 0.00002459●●●●●●
138. 29509691 c.888+8G>A splice site 0.00001919●●●●●●
139. 29546144 c.1641+8G>A splice site 0.00001893●●●●●●
140. 29509668 c.873A>C p.E291D missense 0.00001792●●●●●●
141. 29685490 c.7908-8T>C splice site 0.00001728●●●●●●
142. 29556043 c.2410G>T p.A804S missense 0.00001727●●●●●●
143. 29664906 c.6641+8C>T splice site 0.00001723●●●●●●
144. 29670161 c.7126+8A>G splice site 0.00001685●●●●●●
145. 29670155 c.7126+2_7126+3insA splice site 0.00001679●●●●●●
146. 29528456 c.1213A>G p.T405A missense 0.00001675●●●●●●
147. 29483007 c.67A>G p.I23V missense 0.00001674●●●●●●
148. 29557278 c.2991G>A splice site 0.00001672●●●●●●
149. 29559710 c.3315-8T>C splice site 0.00001670●●●●●●
150. 29509558 c.763G>A p.G255S missense 0.00001666●●●●●●
151. 29662053 c.5943+4T>C splice site 0.00001665●●●●●●
152. 29556476 c.2843A>G p.Q948R missense 0.00001660●●●●●●
153. 29663345 c.5944-6A>G splice site 0.00001659●●●●●●
154. 29557366 c.3079G>A p.D1027N missense 0.00001658●●●●●●
155. 29556929 c.2927C>T p.T976I missense 0.00001657●●●●●●
156. 29553483 c.2032C>A p.P678T missense 0.00001657●●●●●●
157. 29585501 c.4250G>A p.G1417D missense 0.00001657●●●●●●
158. 29496970 c.541C>G p.Q181E missense 0.00001657●●●●●●
159. 29553483 c.2032C>T p.P678S missense 0.00001657●●●●●●
160. 29496941 c.512A>G p.N171S missense 0.00001656●●●●●●
161. 29685980 c.8051-7G>A splice site 0.00001656●●●●●●
162. 29490401 c.479+7G>A splice site 0.00001656●●●●●●
163. 29556452 c.2819C>G p.T940S missense 0.00001655●●●●●●
164. 29508725 c.655-3T>C splice site 0.00001654●●●●●●
165. 29683591 c.7666T>C p.Y2556H missense 0.00001653●●●●●●
166. 29664424 c.6403T>C p.F2135L missense 0.00001653●●●●●●
167. 29662038 c.5932A>G p.S1978G missense 0.00001653●●●●●●
168. 29664428 c.6407C>T p.S2136L missense 0.00001652●●●●●●
169. 29670099 c.7072G>A p.G2358R missense 0.00001652●●●●●●
170. 29653148 c.5083G>C p.A1695P missense 0.00001652●●●●●●
171. 29556214 c.2581G>C p.A861P missense 0.00001652●●●●●●
172. 29665741 c.6776A>G p.K2259R missense 0.00001652●●●●●●
173. 29701027 c.8315-4C>T splice site 0.00001652●●●●●●
174. 29664426 c.6405C>G p.F2135L missense 0.00001652●●●●●●
175. 29552242 c.1975C>T p.R659W missense 0.00001651●●●●●●
176. 29670051 c.7024A>G p.I2342V missense 0.00001651●●●●●●
177. 29554532 c.2326-9T>A splice site 0.00001651●●●●●●
178. 29552239 c.1972C>T p.L658F missense 0.00001651●●●●●●
179. 29552152 c.1885G>A p.G629R missense 0.00001650●●●●●●
180. 29701076 c.8360G>C p.C2787S missense 0.00001650●●●●●●
181. 29679268 c.7395-7C>T splice site 0.00001650●●●●●●
182. 29552188 c.1921A>G p.S641G missense 0.00001650●●●●●●
183. 29701099 c.8383G>A p.G2795R missense 0.00001650●●●●●●
184. 29554593 c.2378A>C p.N793T missense 0.00001650●●●●●●
185. 29556380 c.2747A>G p.N916S missense 0.00001649●●●●●●
186. 29556250 c.2617C>T p.R873C missense 0.00001649●●●●●●
187. 29556322 c.2689C>T p.R897W missense 0.00001649●●●●●●
188. 29683523 c.7598C>T p.P2533L missense 0.00001649●●●●●●
189. 29684318 c.7838T>C p.F2613S missense 0.00001649●●●●●●
190. 29556382 c.2749G>A p.V917I missense 0.00001649●●●●●●
191. 29553516 c.2065G>A p.V689M missense 0.00001649●●●●●●
192. 29684368 c.7888C>T p.P2630S missense 0.00001649●●●●●●
193. 29585373 c.4122G>T p.Q1374H missense 0.00001649●●●●●●
194. 29701132 c.8416G>T p.A2806S missense 0.00001649●●●●●●
195. 29701143 c.8427C>A p.F2809L missense 0.00001649●●●●●●
196. 29527596 c.1045A>G p.M349V missense 0.00001648●●●●●●
197. 29677202 c.7260T>G splice site 0.00001648●●●●●●
198. 29652960 c.4895G>A p.R1632H missense 0.00001648●●●●●●
199. 29652944 c.4879A>G p.T1627A missense 0.00001648●●●●●●
200. 29661984 c.5878A>G p.M1960V missense 0.00001648●●●●●●
201. 29587451 c.4432A>G p.I1478V missense 0.00001648●●●●●●
202. 29654784 c.5473C>T p.R1825W missense 0.00001648●●●●●●
203. 29677318 c.7376A>G p.H2459R missense 0.00001648●●●●●●
204. 29657369 c.5602G>A p.E1868K missense 0.00001648●●●●●●
205. 29679301 c.7421C>T p.S2474F missense 0.00001648●●●●●●
206. 29553640 c.2189A>C p.N730T missense 0.00001648●●●●●●
207. 29563005 c.3940T>C p.W1314R missense 0.00001648●●●●●●
208. 29652947 c.4882G>A p.G1628R missense 0.00001648●●●●●●
209. 29533366 c.1369C>T p.H457Y missense 0.00001648●●●●●●
210. 29576140 c.4110+3A>G splice site 0.00001648●●●●●●
211. 29657435 c.5668A>G p.I1890V missense 0.00001648●●●●●●
212. 29653089 c.5024T>C p.L1675P missense 0.00001648●●●●●●
213. 29679351 c.7471G>A p.G2491S missense 0.00001648●●●●●●
214. 29677275 c.7333A>G p.I2445V missense 0.00001648●●●●●●
215. 29679313 c.7433G>T p.G2478V missense 0.00001648●●●●●●
216. 29553609 c.2158C>T p.R720W missense 0.00001648●●●●●●
217. 29667607 c.6943G>A p.A2315T missense 0.00001648●●●●●●
218. 29653095 c.5030C>T p.T1677I missense 0.00001648●●●●●●
219. 29652945 c.4880C>T p.T1627I missense 0.00001648●●●●●●
220. 29684019 c.7717C>T p.R2573C missense 0.00001648●●●●●●
221. 29587445 c.4426T>C p.S1476P missense 0.00001648●●●●●●
222. 29533260 c.1263C>T splice site 0.00001648●●●●●●
223. 29562925 c.3871-11C>T splice site 0.00001648●●●●●●
224. 29654757 c.5446G>A p.D1816N missense 0.00001648●●●●●●
225. 29684020 c.7718G>T p.R2573L missense 0.00001648●●●●●●
226. 29533389 c.1392G>A p.P464P splice site 0.00001648●●●●●●
227. 29562932 c.3871-4G>A splice site 0.00001648●●●●●●
228. 29679325 c.7445A>G p.Y2482C missense 0.00001648●●●●●●
229. 29654629 c.5318T>C p.V1773A missense 0.00001647●●●●●●
230. 29687581 c.8174T>C p.I2725T missense 0.00001647●●●●●●
231. 29665104 c.6703A>G p.S2235G missense 0.00001647●●●●●●
232. 29687668 c.8261A>C p.N2754T missense 0.00001647●●●●●●
233. 29586148 c.4367+1G>A essential splice site 0.00001497●●●●●●
234. 29586095 c.4315C>T p.H1439Y missense 0.00001247●●●●●●
235. 29586099 c.4319T>C p.M1440T missense 0.00001244●●●●●●
236. 29586096 c.4316A>G p.H1439R missense 0.00001243●●●●●●
237. 29559113 c.3220G>A p.E1074K missense 0.00001175●●●●●●
238. 29676186 c.7175T>C p.L2392S missense 0.00001156●●●●●●
239. 29557854 c.3114-6C>T splice site 0.00000991●●●●●●
240. 29557854 c.3114-6C>G splice site 0.00000991●●●●●●
241. 29557856 c.3114-4A>G splice site 0.00000983●●●●●●
242. 29676201 c.7190C>T p.T2397I missense 0.00000971●●●●●●
243. 29546036 c.1541A>G p.Q514R missense 0.00000947●●●●●●
244. 29679439 c.7552+7T>C splice site 0.00000944●●●●●●
245. 29548951 c.1721+4T>A splice site 0.00000934●●●●●●
246. 29546139 c.1641+3A>G splice site 0.00000931●●●●●●
247. 29546139 c.1641+3delA splice site 0.00000929●●●●●●
248. 29557921 c.3175G>C p.D1059H missense 0.00000925●●●●●●
249. 29676210 c.7199A>G p.N2400S missense 0.00000917●●●●●●
250. 29546044 c.1549G>A p.E517K missense 0.00000914●●●●●●
251. 29509673 c.878A>C p.N293T missense 0.00000903●●●●●●
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506. 29664530 c.6509C>G p.S2170C missense 0.00000824●●●●●●
507. 29653073 c.5008A>G p.K1670E missense 0.00000824●●●●●●
508. 29562731 c.3811A>G p.M1271V missense 0.00000824●●●●●●
509. 29533383 c.1386G>C p.M462I missense 0.00000824●●●●●●
510. 29677248 c.7306C>T p.H2436Y missense 0.00000824●●●●●●
511. 29587437 c.4418A>G p.H1473R missense 0.00000824●●●●●●
512. 29667610 c.6946C>T p.L2316F missense 0.00000824●●●●●●
513. 29684080 c.7778A>G p.K2593R missense 0.00000824●●●●●●
514. 29562746 c.3826C>T p.R1276X nonsense 0.00000824●●●●●●
515. 29553586 c.2135A>G p.H712R missense 0.00000824●●●●●●
516. 29562976 c.3911T>C p.L1304S missense 0.00000824●●●●●●
517. 29684002 c.7700A>G p.Q2567R missense 0.00000824●●●●●●
518. 29560184 c.3661C>G p.L1221V missense 0.00000824●●●●●●
519. 29654703 c.5392G>A p.A1798T missense 0.00000824●●●●●●
520. 29664494 c.6473G>T p.R2158L missense 0.00000824●●●●●●
521. 29653002 c.4937C>G p.P1646R missense 0.00000824●●●●●●
522. 29560224 c.3701C>T p.S1234F missense 0.00000824●●●●●●
523. 29687668 c.8261A>G p.N2754S missense 0.00000824●●●●●●
524. 29533264 c.1267T>A p.L423M missense 0.00000824●●●●●●
525. 29687640 c.8233C>G p.L2745V missense 0.00000824●●●●●●
526. 29677311 c.7369A>G p.I2457V missense 0.00000824●●●●●●
527. 29559761 c.3358G>A p.V1120I missense 0.00000824●●●●●●
528. 29685610 c.8020C>T p.P2674S missense 0.00000824●●●●●●
529. 29657384 c.5617G>C p.E1873Q missense 0.00000824●●●●●●
530. 29587398 c.4379A>G p.D1460G missense 0.00000824●●●●●●
531. 29677233 c.7291C>T p.R2431C missense 0.00000824●●●●●●
532. 29654671 c.5360C>T p.T1787M missense 0.00000824●●●●●●
533. 29657348 c.5581T>C p.C1861R missense 0.00000824●●●●●●
534. 29527560 c.1009G>A p.E337K missense 0.00000824●●●●●●
535. 29533315 c.1318C>T p.R440X nonsense 0.00000824●●●●●●
536. 29687526 c.8119G>A p.A2707T missense 0.00000824●●●●●●
537. 29527515 c.964A>G p.I322V missense 0.00000824●●●●●●
538. 29560113 c.3590C>G p.A1197G missense 0.00000824●●●●●●
539. 29556373 c.2740C>T p.R914W missense 0.00000824●●●●●●
540. 29667515 c.6859-8T>C splice site 0.00000824●●●●●●
541. 29667559 c.6895G>A p.V2299M missense 0.00000824●●●●●●
542. 29661940 c.5834C>T p.A1945V missense 0.00000824●●●●●●
543. 29562797 c.3870+7A>G splice site 0.00000824●●●●●●
544. 29533316 c.1319_1324delGAAATA p.Arg440_Met442delinsLeu inframe 0.00000824●●●●●●
545. 29683537 c.7612A>G p.M2538V missense 0.00000824●●●●●●
546. 29664559 c.6538T>A p.S2180T missense 0.00000824●●●●●●
547. 29562736 c.3816G>C p.Q1272H missense 0.00000824●●●●●●
548. 29663839 c.6271G>A p.A2091T missense 0.00000824●●●●●●
549. 29560074 c.3551C>G p.T1184R missense 0.00000824●●●●●●
550. 29490282 c.367A>G p.T123A missense 0.00000824●●●●●●
551. 29661909 c.5803C>G p.L1935V missense 0.00000824●●●●●●
552. 29587440 c.4421G>C p.S1474T missense 0.00000824●●●●●●
553. 29533255 c.1261-3T>A splice site 0.00000824●●●●●●
554. 29687582 c.8175T>G p.I2725M missense 0.00000824●●●●●●
555. 29661994 c.5888A>G p.N1963S missense 0.00000824●●●●●●
556. 29654720 c.5409C>G p.I1803M missense 0.00000824●●●●●●
557. 29576111 c.4084C>T p.R1362X nonsense 0.00000824●●●●●●
558. 29684013 c.7711C>A p.H2571N missense 0.00000824●●●●●●
559. 29587404 c.4385C>T p.A1462V missense 0.00000824●●●●●●
560. 29576102 c.4075C>A p.P1359T missense 0.00000824●●●●●●
561. 29556307 c.2674A>T p.S892C missense 0.00000824●●●●●●
562. 29562992 c.3927C>G p.I1309M missense 0.00000824●●●●●●
563. 29556257 c.2624G>T p.G875V missense 0.00000824●●●●●●
564. 29664514 c.6493T>G p.S2165A missense 0.00000824●●●●●●
565. 29653028 c.4963G>A p.A1655T missense 0.00000824●●●●●●
566. 29562714 c.3794T>A p.V1265E missense 0.00000824●●●●●●
567. 29588766 c.4552A>T p.M1518L missense 0.00000824●●●●●●
568. 29559791 c.3388A>G p.R1130G missense 0.00000824●●●●●●
569. 29533370 c.1373C>A p.P458Q missense 0.00000824●●●●●●
570. 29533304 c.1307C>T p.S436L missense 0.00000824●●●●●●
571. 29687566 c.8159C>T p.T2720M missense 0.00000824●●●●●●
572. 29587387 c.4368G>A p.R1456R splice site 0.00000824●●●●●●
573. 29687651 c.8244G>T p.Q2748H missense 0.00000824●●●●●●
574. 29677314 c.7372C>G p.H2458D missense 0.00000824●●●●●●
575. 29663767 c.6199C>G p.L2067V missense 0.00000824●●●●●●
576. 29687527 c.8120C>T p.A2707V missense 0.00000824●●●●●●
577. 29527522 c.971G>C p.C324S missense 0.00000824●●●●●●
578. 29679304 c.7424C>G p.S2475C missense 0.00000824●●●●●●
579. 29657433 c.5666C>G p.S1889C missense 0.00000824●●●●●●
580. 29527570 c.1019C>G p.S340C missense 0.00000824●●●●●●
581. 29556266 c.2633T>C p.I878T missense 0.00000824●●●●●●
582. 29556374 c.2741G>A p.R914Q missense 0.00000824●●●●●●
583. 29483151 c.204+7A>G splice site 0.00000824●●●●●●
584. 29684049 c.7747C>G p.L2583V missense 0.00000824●●●●●●
585. 29562755 c.3835A>G p.S1279G missense 0.00000824●●●●●●
586. 29576140 c.4110+3A>C splice site 0.00000824●●●●●●
587. 29556258 c.2625delT p.Ser876LeufsTer2 frameshift 0.00000824●●●●●●
588. 29490309 c.394G>A p.A132T missense 0.00000824●●●●●●
589. 29679363 c.7483C>T p.P2495S missense 0.00000824●●●●●●
590. 29652957 c.4892A>G p.N1631S missense 0.00000824●●●●●●
591. 29663843 c.6275C>T p.T2092I missense 0.00000824●●●●●●
592. 29560086 c.3563A>T p.Q1188L missense 0.00000824●●●●●●
593. 29663426 c.6019G>A p.A2007T missense 0.00000824●●●●●●
594. 29661978 c.5872A>G p.I1958V missense 0.00000824●●●●●●
595. 29687583 c.8176G>C p.D2726H missense 0.00000824●●●●●●
596. 29677276 c.7334T>C p.I2445T missense 0.00000824●●●●●●
597. 29677273 c.7331A>G p.D2444G missense 0.00000824●●●●●●
598. 29657351 c.5584A>T p.T1862S missense 0.00000824●●●●●●
599. 29556262 c.2629A>G p.M877V missense 0.00000824●●●●●●
600. 29665144 c.6743G>C p.R2248P missense 0.00000824●●●●●●
601. 29667523 c.6859G>A p.D2287N missense 0.00000824●●●●●●
602. 29576117 c.4090G>A p.V1364M missense 0.00000824●●●●●●
603. 29664529 c.6508T>C p.S2170P missense 0.00000824●●●●●●
604. 29653041 c.4976A>G p.Y1659C missense 0.00000824●●●●●●
605. 29562722 c.3802G>T p.A1268S missense 0.00000824●●●●●●
606. 29560196 c.3673A>G p.M1225V missense 0.00000824●●●●●●
607. 29527472 c.921_922insG p.Ala308GlyfsTer7 frameshift 0.00000824●●●●●●
608. 29664574 c.6553A>G p.T2185A missense 0.00000824●●●●●●
609. 29490289 c.374G>A p.R125H missense 0.00000824●●●●●●
610. 29559797 c.3394C>T p.R1132C missense 0.00000824●●●●●●
611. 29533377 c.1380A>G p.I460M missense 0.00000824●●●●●●
612. 29677335 c.7393A>G p.R2465G missense 0.00000824●●●●●●
613. 29663807 c.6239C>T p.P2080L 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.