MYPN missense variants in ExAC

MYPN gene summary
MYPN variants in

The table below lists the MYPN 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. 69881205 c.10G>A p.D4N missense 0.00000830●●●●●●
2. 69881211 c.16A>T p.I6L missense 0.00001658●●●●●●
3. 69881212 c.17T>C p.I6T missense 0.00000829●●●●●●
4. 69881232 c.37T>A p.S13T missense 0.00000827●●●●●●
5. 69881233 c.38C>G p.S13C missense 0.00000827●●●●●●
6. 69881245 c.50G>A p.R17K missense 0.00000826●●●●●●
7. 69881252 c.57C>G p.S19R missense 0.00000826●●●●●●
8. 69881254 c.59A>G p.Y20C missense 0.00091633●●●●●●
9. 69881260 c.65C>G p.A22G missense 0.00019809●●●●●●
10. 69881274 c.79C>G p.R27G missense 0.00003300●●●●●●
11. 69881275 c.80G>A p.R27Q missense 0.00000825●●●●●●
12. 69881275 c.80G>C p.R27P missense 0.00003300●●●●●●
13. 69881277 c.82G>C p.G28R missense 0.00000825●●●●●●
14. 69881287 c.92A>C p.E31A missense 0.00000825●●●●●●
15. 69881295 c.100C>G p.R34G missense 0.00000825●●●●●●
16. 69881299 c.104C>T p.A35V missense 0.00000825●●●●●●
17. 69881301 c.106G>C p.E36Q missense 0.00001650●●●●●●
18. 69881307 c.112T>A p.S38T missense 0.00000825●●●●●●
19. 69881308 c.113C>T p.S38F missense 0.00000825●●●●●●
20. 69881315 c.120C>A p.N40K missense 0.00000825●●●●●●
21. 69881316 c.121C>G p.P41A missense 0.00001650●●●●●●
22. 69881317 c.122C>T p.P41L missense 0.00000825●●●●●●
23. 69881323 c.128A>G p.H43R missense 0.00000825●●●●●●
24. 69881329 c.134G>T p.G45V missense 0.00000825●●●●●●
25. 69881335 c.140C>T p.P47L missense 0.00009075●●●●●●
26. 69881344 c.149C>T p.A50V missense 0.00000825●●●●●●
27. 69881361 c.166G>C p.G56R missense 0.00000825●●●●●●
28. 69881380 c.185A>C p.D62A missense 0.00003299●●●●●●
29. 69881389 c.194C>T p.A65V missense 0.00000825●●●●●●
30. 69881425 c.230A>G p.N77S missense 0.00000825●●●●●●
31. 69881446 c.251A>G p.N84S missense 0.00000825●●●●●●
32. 69881451 c.256G>C p.D86H missense 0.00000825●●●●●●
33. 69881454 c.259C>G p.P87A missense 0.00004123●●●●●●
34. 69881459 c.264G>C p.L88F missense 0.00000825●●●●●●
35. 69881464 c.269A>G p.K90R missense 0.00000825●●●●●●
36. 69881466 c.271G>A p.A91T missense 0.00000825●●●●●●
37. 69881470 c.275A>G p.D92G missense 0.00001649●●●●●●
38. 69881476 c.281C>G p.T94S missense 0.00000825●●●●●●
39. 69881479 c.284A>C p.Q95P missense 0.00000825●●●●●●
40. 69881499 c.304C>G p.P102A missense 0.00004950●●●●●●
41. 69881503 c.308A>T p.D103V missense 0.00003300●●●●●●
42. 69881514 c.319C>T p.H107Y missense 0.00000825●●●●●●
43. 69881542 c.347A>G p.N116S missense 0.00000825●●●●●●
44. 69881558 c.363C>G p.N121K missense 0.00000826●●●●●●
45. 69881569 c.374C>T p.P125L missense 0.00000826●●●●●●
46. 69881576 c.381C>G p.S127R missense 0.00000826●●●●●●
47. 69881578 c.383C>T p.S128F missense 0.00000826●●●●●●
48. 69881587 c.392G>T p.S131I missense 0.00009911●●●●●●
49. 69881590 c.395C>T p.P132L missense 0.00014866●●●●●●
50. 69881599 c.404C>G p.A135G missense 0.00001652●●●●●●
51. 69881605 c.410G>C p.R137T missense 0.00015692●●●●●●
52. 69881606 c.411G>C p.R137S missense 0.00003304●●●●●●
53. 69881629 c.434A>G p.Q145R missense 0.00000826●●●●●●
54. 69881632 c.437C>T p.S146F missense 0.00009088●●●●●●
55. 69881650 c.455A>G p.N152S missense 0.00000826●●●●●●
56. 69881653 c.458A>C p.K153T missense 0.00000826●●●●●●
57. 69881668 c.473T>C p.I158T missense 0.00000826●●●●●●
58. 69881704 c.509C>A p.S170Y missense 0.00000826●●●●●●
59. 69881707 c.512A>G p.K171R missense 0.00001652●●●●●●
60. 69881712 c.517A>G p.I173V missense 0.00000826●●●●●●
61. 69881714 c.519T>G p.I173M missense 0.00005781●●●●●●
62. 69881721 c.526C>T p.R176C missense 0.00002478●●●●●●
63. 69881734 c.539A>C p.N180T missense 0.00000825●●●●●●
64. 69881743 c.548G>A p.S183N missense 0.00000825●●●●●●
65. 69881749 c.554T>A p.L185Q missense 0.00000825●●●●●●
66. 69881772 c.577C>A p.Q193K missense 0.00000825●●●●●●
67. 69881773 c.578A>G p.Q193R missense 0.00023916●●●●●●
68. 69881797 c.602A>C p.D201A missense 0.00000824●●●●●●
69. 69881798 c.603T>G p.D201E missense 0.00000824●●●●●●
70. 69881799 c.604C>A p.L202M missense 0.00000824●●●●●●
71. 69881812 c.617G>A p.R206Q missense 0.00002473●●●●●●
72. 69881840 c.645C>G p.I215M missense 0.00000824●●●●●●
73. 69881845 c.650C>T p.A217V missense 0.00000824●●●●●●
74. 69881857 c.662A>T p.D221V missense 0.00018961●●●●●●
75. 69881857 c.662A>G p.D221G missense 0.00001649●●●●●●
76. 69881878 c.683T>C p.L228P missense 0.00001650●●●●●●
77. 69881880 c.685G>A p.E229K missense 0.00000825●●●●●●
78. 69881886 c.691C>A p.Q231K missense 0.00000825●●●●●●
79. 69881902 c.707G>A p.R236H missense 0.00000827●●●●●●
80. 69881907 c.712G>A p.A238T missense 0.00002484●●●●●●
81. 69881910 c.715G>C p.E239Q missense 0.00000828●●●●●●
82. 69881914 c.719A>G p.Q240R missense 0.00000829●●●●●●
83. 69881917 c.722C>G p.A241G missense 0.00000829●●●●●●
84. 69881929 c.734C>G p.A245G missense 0.00024119●●●●●●
85. 69881929 c.734C>T p.A245V missense 0.00000832●●●●●●
86. 69881931 c.736G>A p.A246T missense 0.00002494●●●●●●
87. 69881943 c.748A>C p.T250P missense 0.00001666●●●●●●
88. 69881946 c.751A>G p.T251A missense 0.00000834●●●●●●
89. 69881950 c.755C>T p.P252L missense 0.00000834●●●●●●
90. 69881952 c.757G>C p.G253R missense 0.00007504●●●●●●
91. 69881953 c.758G>T p.G253V missense 0.00000834●●●●●●
92. 69881971 c.776T>A p.L259Q missense 0.00000834●●●●●●
93. 69881977 c.782A>G p.Y261C missense 0.00010015●●●●●●
94. 69881986 c.791C>T p.P264L missense 0.00000835●●●●●●
95. 69881989 c.794T>C p.L265P missense 0.00000835●●●●●●
96. 69881997 c.802C>T p.P268S missense 0.00030066●●●●●●
97. 69882000 c.805C>G p.P269A missense 0.00000835●●●●●●
98. 69882000 c.805C>T p.P269S missense 0.00000835●●●●●●
99. 69882009 c.814A>G p.T272A missense 0.00000834●●●●●●
100. 69882021 c.826C>T p.R276W missense 0.00002501●●●●●●
101. 69882022 c.827G>A p.R276Q missense 0.00001666●●●●●●
102. 69882027 c.832A>G p.R278G missense 0.00000833●●●●●●
103. 69882033 c.838G>C p.V280L missense 0.00000833●●●●●●
104. 69882037 c.842C>A p.P281Q missense 0.00000833●●●●●●
105. 69882040 c.845A>G p.E282G missense 0.00015849●●●●●●
106. 69882051 c.856G>A p.V286I missense 0.00000835●●●●●●
107. 69882060 c.865G>T p.D289Y missense 0.00000836●●●●●●
108. 69882066 c.871A>C p.I291L missense 0.00000836●●●●●●
109. 69882085 c.890C>T p.P297L missense 0.00000838●●●●●●
110. 69902702 c.908A>G p.Y303C missense 0.00000824●●●●●●
111. 69902708 c.914A>G p.E305G missense 0.00000824●●●●●●
112. 69902711 c.917G>A p.G306D missense 0.00000824●●●●●●
113. 69902719 c.925C>T p.L309F missense 0.00000824●●●●●●
114. 69902734 c.940G>C p.D314H missense 0.00000824●●●●●●
115. 69902737 c.943A>G p.I315V missense 0.00002471●●●●●●
116. 69902737 c.943A>C p.I315L missense 0.00000824●●●●●●
117. 69902743 c.949A>G p.I317V missense 0.00001648●●●●●●
118. 69902746 c.952G>A p.V318I missense 0.00016476●●●●●●
119. 69902778 c.984T>G p.I328M missense 0.00000824●●●●●●
120. 69902780 c.986C>T p.A329V missense 0.00004119●●●●●●
121. 69902796 c.1002G>C p.E334D missense 0.00000824●●●●●●
122. 69902806 c.1012C>T p.R338C missense 0.00004946●●●●●●
123. 69902807 c.1013G>A p.R338H missense 0.00001649●●●●●●
124. 69902813 c.1019C>G p.S340C missense 0.00001649●●●●●●
125. 69902825 c.1031C>T p.S344F missense 0.00001650●●●●●●
126. 69902827 c.1033A>G p.N345D missense 0.00000825●●●●●●
127. 69902834 c.1040A>G p.Y347C missense 0.00000826●●●●●●
128. 69902840 c.1046C>G p.T349R missense 0.00000827●●●●●●
129. 69902840 c.1046C>A p.T349K missense 0.00035545●●●●●●
130. 69902840 c.1046C>T p.T349I missense 0.00001653●●●●●●
131. 69902846 c.1052C>T p.S351L missense 0.00013238●●●●●●
132. 69905234 c.1081G>C p.V361L missense 0.00004953●●●●●●
133. 69905234 c.1081G>T p.V361F missense 0.00000825●●●●●●
134. 69905240 c.1087T>G p.S363A missense 0.00000825●●●●●●
135. 69905241 c.1088C>T p.S363F missense 0.00003300●●●●●●
136. 69905249 c.1096T>C p.S366P missense 0.00004124●●●●●●
137. 69905256 c.1103G>A p.G368D missense 0.00003299●●●●●●
138. 69905258 c.1105G>A p.D369N missense 0.00002474●●●●●●
139. 69905262 c.1109C>T p.P370L missense 0.00001649●●●●●●
140. 69905265 c.1112A>G p.N371S missense 0.00001649●●●●●●
141. 69905274 c.1121A>G p.E374G missense 0.00000825●●●●●●
142. 69905277 c.1124T>C p.M375T missense 0.00000825●●●●●●
143. 69905283 c.1130G>A p.R377Q missense 0.00048650●●●●●●
144. 69908126 c.1147G>A p.E383K missense 0.00000824●●●●●●
145. 69908138 c.1159C>T p.P387S missense 0.00001648●●●●●●
146. 69908141 c.1162C>T p.P388S missense 0.00000824●●●●●●
147. 69908157 c.1178T>C p.V393A missense 0.04523660●●●●●●
148. 69908169 c.1190C>G p.A397G missense 0.00000824●●●●●●
149. 69908175 c.1196C>T p.P399L missense 0.00001648●●●●●●
150. 69908178 c.1199A>G p.Q400R missense 0.00000824●●●●●●
151. 69908187 c.1208A>T p.H403L missense 0.00000824●●●●●●
152. 69908196 c.1217C>T p.A406V missense 0.00024718●●●●●●
153. 69908199 c.1220A>G p.Q407R missense 0.00000824●●●●●●
154. 69908205 c.1226G>A p.R409H missense 0.00003296●●●●●●
155. 69908208 c.1229T>C p.V410A missense 0.00004120●●●●●●
156. 69908210 c.1231G>A p.A411T missense 0.00002472●●●●●●
157. 69909797 c.1246T>C p.C416R missense 0.00000824●●●●●●
158. 69909798 c.1247G>A p.C416Y missense 0.00000824●●●●●●
159. 69909824 c.1273G>A p.G425R missense 0.00000824●●●●●●
160. 69909832 c.1281T>G p.D427E missense 0.00001649●●●●●●
161. 69918247 c.1322T>C p.L441P missense 0.00000828●●●●●●
162. 69918271 c.1346G>T p.G449V missense 0.00001652●●●●●●
163. 69918295 c.1370G>T p.R457I missense 0.00000825●●●●●●
164. 69918297 c.1372G>A p.V458I missense 0.00000825●●●●●●
165. 69918324 c.1399G>A p.E467K missense 0.01369693●●●●●●
166. 69918349 c.1424T>C p.I475T missense 0.00000833●●●●●●
167. 69918354 c.1429G>C p.D477H missense 0.00000838●●●●●●
168. 69918360 c.1435C>A p.P479T missense 0.00002524●●●●●●
169. 69918361 c.1436C>G p.P479R missense 0.00000843●●●●●●
170. 69918370 c.1445G>A p.R482K missense 0.00006909●●●●●●
171. 69918377 c.1452A>C p.L484F missense 0.00000893●●●●●●
172. 69921492 c.1466G>A p.R489Q missense 0.00008314●●●●●●
173. 69921495 c.1469C>G p.S490C missense 0.00001663●●●●●●
174. 69921501 c.1475C>T p.A492V missense 0.00004164●●●●●●
175. 69925470 c.1495A>G p.T499A missense 0.00000825●●●●●●
176. 69925479 c.1504A>G p.I502V missense 0.00000825●●●●●●
177. 69925486 c.1511A>G p.E504G missense 0.00000826●●●●●●
178. 69925493 c.1518T>G p.F506L missense 0.00003305●●●●●●
179. 69925530 c.1555A>G p.N519D missense 0.00000829●●●●●●
180. 69925540 c.1565G>A p.G522D missense 0.00000830●●●●●●
181. 69925546 c.1571T>A p.V524E missense 0.00000830●●●●●●
182. 69925555 c.1580T>C p.I527T missense 0.00000830●●●●●●
183. 69925569 c.1594G>A p.V532M missense 0.00000831●●●●●●
184. 69925573 c.1598G>C p.R533T missense 0.00000831●●●●●●
185. 69926059 c.1609G>T p.D537Y missense 0.00000825●●●●●●
186. 69926072 c.1622A>T p.N541I missense 0.00000825●●●●●●
187. 69926074 c.1624G>A p.G542R missense 0.00001649●●●●●●
188. 69926099 c.1649C>T p.T550I missense 0.00001648●●●●●●
189. 69926102 c.1652C>T p.T551I missense 0.00000824●●●●●●
190. 69926105 c.1655A>G p.N552S missense 0.00000824●●●●●●
191. 69926107 c.1657C>A p.L553M missense 0.00000824●●●●●●
192. 69926122 c.1672C>T p.P558S missense 0.00000824●●●●●●
193. 69926140 c.1690C>G p.H564D missense 0.00000824●●●●●●
194. 69926140 c.1690C>A p.H564N missense 0.00000824●●●●●●
195. 69926150 c.1700C>G p.P567R missense 0.00000824●●●●●●
196. 69926166 c.1716A>C p.Q572H missense 0.00002474●●●●●●
197. 69926167 c.1717C>A p.P573T missense 0.00003298●●●●●●
198. 69926168 c.1718C>T p.P573L missense 0.00000825●●●●●●
199. 69926185 c.1735G>A p.E579K missense 0.00000825●●●●●●
200. 69926207 c.1757A>G p.N586S missense 0.00009891●●●●●●
201. 69926213 c.1763C>T p.P588L missense 0.00002473●●●●●●
202. 69926215 c.1765C>T p.R589W missense 0.00001649●●●●●●
203. 69926216 c.1766G>A p.R589Q missense 0.00003297●●●●●●
204. 69926221 c.1771A>G p.S591G missense 0.00001648●●●●●●
205. 69926222 c.1772G>A p.S591N missense 0.00000824●●●●●●
206. 69926236 c.1786C>T p.L596F missense 0.00000824●●●●●●
207. 69926239 c.1789C>T p.R597C missense 0.00000824●●●●●●
208. 69926240 c.1790G>A p.R597H missense 0.00044500●●●●●●
209. 69926257 c.1807C>A p.P603T missense 0.00001648●●●●●●
210. 69926276 c.1826G>A p.S609N missense 0.00000824●●●●●●
211. 69926290 c.1840G>A p.E614K missense 0.00007416●●●●●●
212. 69926308 c.1858A>G p.T620A missense 0.00004121●●●●●●
213. 69926317 c.1867A>T p.T623S missense 0.00000824●●●●●●
214. 69926326 c.1876G>A p.D626N missense 0.00002473●●●●●●
215. 69926330 c.1880C>G p.S627C missense 0.00000824●●●●●●
216. 69926334 c.1884C>G p.F628L missense 0.43825296●●●●●●
217. 69926339 c.1889A>G p.E630G missense 0.00000826●●●●●●
218. 69926345 c.1895T>G p.F632C missense 0.00000826●●●●●●
219. 69926350 c.1900G>A p.G634R missense 0.00023974●●●●●●
220. 69926362 c.1912A>C p.K638Q missense 0.00000828●●●●●●
221. 69926386 c.1936G>A p.V646M missense 0.00001669●●●●●●
222. 69926390 c.1940A>T p.K647I missense 0.00000837●●●●●●
223. 69926394 c.1944G>C p.E648D missense 0.00000839●●●●●●
224. 69926395 c.1945C>G p.P649A missense 0.00001678●●●●●●
225. 69926395 c.1945C>A p.P649T missense 0.00000839●●●●●●
226. 69926398 c.1948C>T p.P650S missense 0.00007567●●●●●●
227. 69926402 c.1952C>A p.P651Q missense 0.00013506●●●●●●
228. 69933828 c.1979C>T p.S660F missense 0.00000824●●●●●●
229. 69933830 c.1981A>T p.T661S missense 0.00000824●●●●●●
230. 69933834 c.1985A>C p.Q662P missense 0.00001648●●●●●●
231. 69933853 c.2004C>A p.N668K missense 0.00000824●●●●●●
232. 69933862 c.2013A>C p.L671F missense 0.00000824●●●●●●
233. 69933864 c.2015T>C p.L672P missense 0.00000824●●●●●●
234. 69933887 c.2038C>G p.P680A missense 0.00000824●●●●●●
235. 69933899 c.2050T>A p.S684T missense 0.00000824●●●●●●
236. 69933900 c.2051C>G p.S684C missense 0.00001647●●●●●●
237. 69933909 c.2060A>C p.E687A missense 0.00003295●●●●●●
238. 69933921 c.2072G>A p.S691N missense 0.43076860●●●●●●
239. 69933925 c.2076G>T p.M692I missense 0.00000824●●●●●●
240. 69933942 c.2093A>G p.N698S missense 0.00021416●●●●●●
241. 69933954 c.2105C>T p.A702V missense 0.00003295●●●●●●
242. 69933963 c.2114C>T p.T705I missense 0.00001647●●●●●●
243. 69933969 c.2120G>A p.S707N missense 0.42584110●●●●●●
244. 69933973 c.2124G>T p.K708N missense 0.00000824●●●●●●
245. 69933980 c.2131A>G p.K711E missense 0.00000824●●●●●●
246. 69933986 c.2137C>T p.P713S missense 0.00000824●●●●●●
247. 69933999 c.2150C>T p.T717M missense 0.00004942●●●●●●
248. 69934004 c.2155A>G p.S719G missense 0.00000824●●●●●●
249. 69934005 c.2156G>C p.S719T missense 0.00002471●●●●●●
250. 69934008 c.2159T>G p.L720W missense 0.00001647●●●●●●
251. 69934014 c.2165G>A p.R722Q missense 0.00027180●●●●●●
252. 69934017 c.2168C>T p.P723L missense 0.00000824●●●●●●
253. 69934019 c.2170A>G p.K724E missense 0.00000824●●●●●●
254. 69934032 c.2183C>T p.P728L missense 0.00015650●●●●●●
255. 69934032 c.2183C>A p.P728H missense 0.00003295●●●●●●
256. 69934037 c.2188A>G p.T730A missense 0.00000824●●●●●●
257. 69934038 c.2189C>T p.T730M missense 0.00002471●●●●●●
258. 69934044 c.2195C>T p.T732I missense 0.00000824●●●●●●
259. 69934077 c.2228C>T p.P743L missense 0.00023064●●●●●●
260. 69934077 c.2228C>A p.P743Q missense 0.00001647●●●●●●
261. 69934085 c.2236A>G p.T746A missense 0.00065075●●●●●●
262. 69934089 c.2240T>C p.L747S missense 0.00000824●●●●●●
263. 69934095 c.2246G>A p.S749N missense 0.00005766●●●●●●
264. 69934109 c.2260A>C p.I754L missense 0.00018121●●●●●●
265. 69934112 c.2263C>G p.Q755E missense 0.00000824●●●●●●
266. 69934122 c.2273T>C p.V758A missense 0.00000824●●●●●●
267. 69934136 c.2287C>G p.L763V missense 0.00000824●●●●●●
268. 69934143 c.2294T>C p.V765A missense 0.00000824●●●●●●
269. 69934151 c.2302C>T p.P768S missense 0.00000824●●●●●●
270. 69934161 c.2312A>G p.Q771R missense 0.00000824●●●●●●
271. 69934170 c.2321C>A p.S774Y missense 0.00009886●●●●●●
272. 69934170 c.2321C>G p.S774C missense 0.00000824●●●●●●
273. 69934191 c.2342A>C p.Q781P missense 0.00000824●●●●●●
274. 69934193 c.2344A>G p.N782D missense 0.00000824●●●●●●
275. 69934200 c.2351C>G p.P784R missense 0.00000824●●●●●●
276. 69934203 c.2354T>A p.L785H missense 0.00000824●●●●●●
277. 69934217 c.2368A>G p.T790A missense 0.00002472●●●●●●
278. 69934233 c.2384C>A p.P795Q missense 0.00000824●●●●●●
279. 69934235 c.2386C>T p.P796S missense 0.00000824●●●●●●
280. 69934238 c.2389T>C p.F797L missense 0.00001648●●●●●●
281. 69934258 c.2409C>G p.S803R missense 0.52048775●●●●●●
282. 69934258 c.2409C>A p.S803R missense 0.00000824●●●●●●
283. 69934259 c.2410G>A p.G804R missense 0.01838023●●●●●●
284. 69934269 c.2420T>C p.F807S missense 0.00000824●●●●●●
285. 69934274 c.2425C>A p.P809T missense 0.00000824●●●●●●
286. 69934277 c.2428C>T p.R810C missense 0.00003296●●●●●●
287. 69934296 c.2447C>T p.P816L missense 0.00324611●●●●●●
288. 69934310 c.2461A>G p.S821G missense 0.00000824●●●●●●
289. 69934314 c.2465G>A p.R822Q missense 0.00001648●●●●●●
290. 69934356 c.2507C>T p.S836F missense 0.00004119●●●●●●
291. 69934362 c.2513C>G p.P838R missense 0.00000824●●●●●●
292. 69934364 c.2515G>A p.A839T missense 0.00002472●●●●●●
293. 69934365 c.2516C>A p.A839D missense 0.00000824●●●●●●
294. 69934383 c.2534C>T p.A845V missense 0.00000824●●●●●●
295. 69934387 c.2538G>A p.M846I missense 0.00000824●●●●●●
296. 69934389 c.2540G>T p.G847V missense 0.00011542●●●●●●
297. 69934403 c.2554G>A p.A852T missense 0.00000825●●●●●●
298. 69934406 c.2557C>G p.P853A missense 0.00000826●●●●●●
299. 69934409 c.2560T>A p.S854T missense 0.00000826●●●●●●
300. 69935084 c.2569T>A p.S857T missense 0.00001650●●●●●●
301. 69935085 c.2570C>T p.S857F missense 0.00000825●●●●●●
302. 69935090 c.2575G>A p.G859R missense 0.00000825●●●●●●
303. 69935097 c.2582C>T p.A861V missense 0.00000825●●●●●●
304. 69935113 c.2598G>T p.K866N missense 0.00000824●●●●●●
305. 69935118 c.2603C>T p.P868L missense 0.00004946●●●●●●
306. 69935120 c.2605C>G p.Q869E missense 0.00000824●●●●●●
307. 69935132 c.2617G>T p.D873Y missense 0.00000824●●●●●●
308. 69935136 c.2621A>G p.D874G missense 0.00000824●●●●●●
309. 69935138 c.2623A>G p.N875D missense 0.00000824●●●●●●
310. 69935144 c.2629C>T p.R877C missense 0.00001648●●●●●●
311. 69935145 c.2630G>A p.R877H missense 0.00001648●●●●●●
312. 69935145 c.2630G>T p.R877L missense 0.00001648●●●●●●
313. 69935157 c.2642A>T p.N881I missense 0.00003296●●●●●●
314. 69935159 c.2644G>A p.A882T missense 0.00000824●●●●●●
315. 69935169 c.2654G>A p.R885Q missense 0.00001648●●●●●●
316. 69935180 c.2665A>G p.K889E missense 0.00000824●●●●●●
317. 69935184 c.2669A>C p.K890T missense 0.00000824●●●●●●
318. 69935198 c.2683G>T p.D895Y missense 0.00001648●●●●●●
319. 69935208 c.2693C>T p.P898L missense 0.00000824●●●●●●
320. 69935210 c.2695A>C p.N899H missense 0.00000824●●●●●●
321. 69948674 c.2716T>G p.S906A missense 0.00000892●●●●●●
322. 69948705 c.2747T>C p.I916T missense 0.00000837●●●●●●
323. 69948713 c.2755C>G p.R919G missense 0.00000833●●●●●●
324. 69948714 c.2756G>A p.R919H missense 0.00008328●●●●●●
325. 69948714 c.2756G>T p.R919L missense 0.00001666●●●●●●
326. 69948722 c.2764C>T p.R922C missense 0.00006639●●●●●●
327. 69948760 c.2802T>A p.H934Q missense 0.00021466●●●●●●
328. 69948761 c.2803G>A p.D935N missense 0.00002477●●●●●●
329. 69948764 c.2806G>A p.E936K missense 0.00000826●●●●●●
330. 69948767 c.2809A>C p.I937L missense 0.00000825●●●●●●
331. 69948774 c.2816C>T p.T939M missense 0.00000825●●●●●●
332. 69948782 c.2824T>C p.C942R missense 0.00000825●●●●●●
333. 69948789 c.2831C>A p.A944D missense 0.00000825●●●●●●
334. 69948813 c.2855A>G p.K952R missense 0.00002474●●●●●●
335. 69948821 c.2863C>T p.R955W missense 0.00042875●●●●●●
336. 69948821 c.2863C>G p.R955G missense 0.00001649●●●●●●
337. 69948822 c.2864G>A p.R955Q missense 0.00005772●●●●●●
338. 69948834 c.2876G>A p.G959D missense 0.00000825●●●●●●
339. 69948839 c.2881C>G p.P961A missense 0.00000825●●●●●●
340. 69948842 c.2884G>A p.V962I missense 0.00000825●●●●●●
341. 69948855 c.2897G>C p.C966S missense 0.00000828●●●●●●
342. 69948882 c.2924A>C p.K975T missense 0.00002492●●●●●●
343. 69948882 c.2924A>G p.K975R missense 0.00001661●●●●●●
344. 69954161 c.2967T>G p.N989K missense 0.00000832●●●●●●
345. 69954162 c.2968G>A p.E990K missense 0.00000832●●●●●●
346. 69954181 c.2987G>A p.R996Q missense 0.00002490●●●●●●
347. 69954187 c.2993G>A p.G998E missense 0.00000830●●●●●●
348. 69954192 c.2998G>A p.G1000R missense 0.00000830●●●●●●
349. 69954202 c.3008C>G p.S1003C missense 0.00000830●●●●●●
350. 69954216 c.3022T>G p.S1008A missense 0.00000830●●●●●●
351. 69954220 c.3026C>T p.T1009I missense 0.00000830●●●●●●
352. 69954232 c.3038A>G p.D1013G missense 0.00000830●●●●●●
353. 69954234 c.3040G>A p.D1014N missense 0.00002492●●●●●●
354. 69954254 c.3060G>A p.M1020I missense 0.00001665●●●●●●
355. 69954255 c.3061G>T p.A1021S missense 0.00000833●●●●●●
356. 69954259 c.3065C>G p.A1022G missense 0.00003335●●●●●●
357. 69954268 c.3074A>G p.Q1025R missense 0.00002505●●●●●●
358. 69955208 c.3077G>A p.G1026E missense 0.00000824●●●●●●
359. 69955216 c.3085A>G p.S1029G missense 0.00000824●●●●●●
360. 69955234 c.3103A>G p.M1035V missense 0.00018957●●●●●●
361. 69955236 c.3105G>A p.M1035I missense 0.00002473●●●●●●
362. 69955253 c.3122T>C p.I1041T missense 0.00000824●●●●●●
363. 69955253 c.3122T>A p.I1041N missense 0.00016486●●●●●●
364. 69955255 c.3124C>T p.R1042C missense 0.00039567●●●●●●
365. 69955256 c.3125G>A p.R1042H missense 0.00002473●●●●●●
366. 69955259 c.3128G>T p.S1043I missense 0.00000824●●●●●●
367. 69955259 c.3128G>A p.S1043N missense 0.00000824●●●●●●
368. 69955261 c.3130C>T p.R1044W missense 0.00004946●●●●●●
369. 69955262 c.3131G>A p.R1044Q missense 0.00005771●●●●●●
370. 69955267 c.3136A>C p.T1046P missense 0.00002473●●●●●●
371. 69955276 c.3145G>C p.G1049R missense 0.00000825●●●●●●
372. 69957111 c.3161G>A p.G1054E missense 0.00002476●●●●●●
373. 69957116 c.3166T>A p.S1056T missense 0.00001650●●●●●●
374. 69957117 c.3167C>T p.S1056F missense 0.00056927●●●●●●
375. 69957120 c.3170G>A p.R1057Q missense 0.00003299●●●●●●
376. 69957144 c.3194C>T p.P1065L missense 0.00000824●●●●●●
377. 69957155 c.3205C>A p.R1069S missense 0.00018955●●●●●●
378. 69957155 c.3205C>T p.R1069C missense 0.00001648●●●●●●
379. 69957156 c.3206G>A p.R1069H missense 0.00001648●●●●●●
380. 69957168 c.3218C>A p.P1073Q missense 0.00001648●●●●●●
381. 69957171 c.3221A>G p.H1074R missense 0.00000824●●●●●●
382. 69957195 c.3245T>C p.M1082T missense 0.00004121●●●●●●
383. 69957196 c.3246G>T p.M1082I missense 0.00000824●●●●●●
384. 69957197 c.3247G>T p.V1083L missense 0.00000824●●●●●●
385. 69957210 c.3260G>C p.G1087A missense 0.00000825●●●●●●
386. 69957212 c.3262C>T p.R1088C missense 0.00004124●●●●●●
387. 69957213 c.3263G>A p.R1088H missense 0.00000825●●●●●●
388. 69957221 c.3271C>T p.R1091W missense 0.00000825●●●●●●
389. 69957227 c.3277G>A p.D1093N missense 0.00001650●●●●●●
390. 69957231 c.3281G>A p.C1094Y missense 0.00000825●●●●●●
391. 69959134 c.3295T>G p.L1099V missense 0.00002481●●●●●●
392. 69959144 c.3305C>T p.P1102L missense 0.00000826●●●●●●
393. 69959153 c.3314C>T p.T1105I missense 0.00003300●●●●●●
394. 69959173 c.3334C>G p.P1112A missense 0.00000825●●●●●●
395. 69959174 c.3335C>T p.P1112L missense 0.00303440●●●●●●
396. 69959189 c.3350C>T p.A1117V missense 0.00000824●●●●●●
397. 69959197 c.3358A>C p.K1120Q missense 0.00000824●●●●●●
398. 69959214 c.3375G>T p.E1125D missense 0.00000824●●●●●●
399. 69959218 c.3379G>A p.G1127R missense 0.00006593●●●●●●
400. 69959225 c.3386A>G p.H1129R missense 0.00000824●●●●●●
401. 69959230 c.3391C>G p.L1131V missense 0.00000824●●●●●●
402. 69959233 c.3394C>T p.L1132F missense 0.00000824●●●●●●
403. 69959242 c.3403C>A p.P1135T missense 0.43227827●●●●●●
404. 69959254 c.3415C>T p.R1139C missense 0.00001648●●●●●●
405. 69959260 c.3421G>A p.A1141T missense 0.00108746●●●●●●
406. 69959279 c.3440T>A p.I1147N missense 0.00007414●●●●●●
407. 69959281 c.3442G>A p.A1148T missense 0.00001648●●●●●●
408. 69959294 c.3455C>T p.T1152I missense 0.00000824●●●●●●
409. 69959296 c.3457G>A p.G1153R missense 0.00000824●●●●●●
410. 69959320 c.3481C>A p.L1161I missense 0.00329592●●●●●●
411. 69959324 c.3485C>T p.S1162F missense 0.00000825●●●●●●
412. 69961594 c.3502G>A p.V1168M missense 0.00000833●●●●●●
413. 69961610 c.3518T>A p.V1173E missense 0.00000831●●●●●●
414. 69961625 c.3533T>C p.L1178P missense 0.00000830●●●●●●
415. 69961636 c.3544G>A p.G1182S missense 0.00000829●●●●●●
416. 69961645 c.3553G>A p.E1185K missense 0.00001656●●●●●●
417. 69961654 c.3562C>A p.P1188T missense 0.00000827●●●●●●
418. 69961657 c.3565G>A p.V1189M missense 0.00000827●●●●●●
419. 69961661 c.3569G>C p.R1190T missense 0.00000827●●●●●●
420. 69961662 c.3570A>C p.R1190S missense 0.00001654●●●●●●
421. 69961664 c.3572T>G p.L1191R missense 0.00000827●●●●●●
422. 69961672 c.3580C>T p.R1194C missense 0.00000827●●●●●●
423. 69961675 c.3583G>A p.V1195M missense 0.00025626●●●●●●
424. 69961685 c.3593T>C p.M1198T missense 0.00004958●●●●●●
425. 69961691 c.3599C>G p.P1200R missense 0.00000826●●●●●●
426. 69961702 c.3610T>C p.Y1204H missense 0.00000826●●●●●●
427. 69961716 c.3624C>A p.D1208E missense 0.00000826●●●●●●
428. 69961720 c.3628G>A p.E1210K missense 0.00002477●●●●●●
429. 69961740 c.3648A>T p.R1216S missense 0.00000826●●●●●●
430. 69961745 c.3653G>A p.R1218K missense 0.00003303●●●●●●
431. 69961746 c.3654G>C p.R1218S missense 0.00000826●●●●●●
432. 69966532 c.3665A>G p.H1222R missense 0.00000824●●●●●●
433. 69966535 c.3668A>G p.Q1223R missense 0.00000824●●●●●●
434. 69966564 c.3697A>T p.I1233F missense 0.00000824●●●●●●
435. 69966571 c.3704C>T p.P1235L missense 0.00000824●●●●●●
436. 69966585 c.3718G>A p.D1240N missense 0.00000824●●●●●●
437. 69966601 c.3734C>T p.T1245M missense 0.00000824●●●●●●
438. 69966605 c.3738G>T p.L1246F missense 0.00000824●●●●●●
439. 69966613 c.3746A>G p.K1249R missense 0.00000824●●●●●●
440. 69966630 c.3763G>A p.V1255M missense 0.00004119●●●●●●
441. 69966634 c.3767C>T p.S1256L missense 0.00000824●●●●●●
442. 69966654 c.3787A>G p.I1263V missense 0.00000825●●●●●●
443. 69966660 c.3793G>A p.A1265T missense 0.00002475●●●●●●
444. 69970048 c.3799T>C p.W1267R missense 0.00000824●●●●●●
445. 69970052 c.3803A>G p.H1268R missense 0.00000824●●●●●●
446. 69970054 c.3805C>G p.H1269D missense 0.00000824●●●●●●
447. 69970067 c.3818C>T p.P1273L missense 0.00007414●●●●●●
448. 69970069 c.3820C>T p.P1274S missense 0.00000824●●●●●●
449. 69970073 c.3824T>C p.M1275T missense 0.00001648●●●●●●
450. 69970082 c.3833G>A p.R1278Q missense 0.00046131●●●●●●
451. 69970095 c.3846T>A p.S1282R missense 0.00051067●●●●●●
452. 69970096 c.3847C>T p.R1283C missense 0.00000824●●●●●●
453. 69970097 c.3848G>A p.R1283H missense 0.00003295●●●●●●
454. 69970102 c.3853G>A p.G1285R missense 0.00001647●●●●●●
455. 69970103 c.3854G>A p.G1285E missense 0.00001647●●●●●●
456. 69970124 c.3875T>C p.L1292P missense 0.00000824●●●●●●
457. 69970135 c.3886T>A p.S1296T missense 0.00014826●●●●●●
458. 69970145 c.3896C>T p.S1299F missense 0.00000824●●●●●●
459. 69970150 c.3901A>G p.M1301V missense 0.00000824●●●●●●
460. 69970151 c.3902T>C p.M1301T missense 0.00000824●●●●●●
461. 69970160 c.3911C>T p.T1304M missense 0.00002471●●●●●●
462. 69970162 c.3913A>G p.M1305V missense 0.00003295●●●●●●
463. 69970163 c.3914T>C p.M1305T missense 0.00000824●●●●●●
464. 69970165 c.3916G>A p.V1306M missense 0.00000824●●●●●●
465. 69970172 c.3923C>T p.S1308L missense 0.00001647●●●●●●
466. 69970183 c.3934C>T p.R1312W missense 0.00015649●●●●●●
467. 69970184 c.3935G>A p.R1312Q missense 0.00002471●●●●●●
468. 69970184 c.3935G>C p.R1312P missense 0.00000824●●●●●●
469. 69970188 c.3939T>G p.S1313R missense 0.00000824●●●●●●
470. 69970190 c.3941T>C p.V1314A missense 0.00000824●●●●●●
471. 69970193 c.3944T>C p.V1315A missense 0.00002471●●●●●●
472. 69970208 c.3959T>C p.L1320P missense 0.00002471●●●●●●

* 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.