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