MYPN variants in ExAC

MYPN gene summary
MYPN variants in

The table below lists the MYPN 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. 69948892 c.2925+9G>C splice site 0.00594000●●●●●●
10. 69959320 c.3481C>A p.L1161I missense 0.00329592●●●●●●
11. 69934296 c.2447C>T p.P816L missense 0.00324611●●●●●●
12. 69959174 c.3335C>T p.P1112L missense 0.00303440●●●●●●
13. 69959343 c.3493+11C>T splice site 0.00186947●●●●●●
14. 69955209 c.3078G>A p.G1026G splice site 0.00110472●●●●●●
15. 69959260 c.3421G>A p.A1141T missense 0.00108746●●●●●●
16. 69881254 c.59A>G p.Y20C missense 0.00091633●●●●●●
17. 69934085 c.2236A>G p.T746A missense 0.00065075●●●●●●
18. 69957117 c.3167C>T p.S1056F missense 0.00056927●●●●●●
19. 69970095 c.3846T>A p.S1282R missense 0.00051067●●●●●●
20. 69905283 c.1130G>A p.R377Q missense 0.00048650●●●●●●
21. 69970082 c.3833G>A p.R1278Q missense 0.00046131●●●●●●
22. 69926240 c.1790G>A p.R597H missense 0.00044500●●●●●●
23. 69948821 c.2863C>T p.R955W missense 0.00042875●●●●●●
24. 69955255 c.3124C>T p.R1042C missense 0.00039567●●●●●●
25. 69966659 c.3792C>T p.Y1264Y splice site 0.00037122●●●●●●
26. 69902840 c.1046C>A p.T349K missense 0.00035545●●●●●●
27. 69881997 c.802C>T p.P268S missense 0.00030066●●●●●●
28. 69934014 c.2165G>A p.R722Q missense 0.00027180●●●●●●
29. 69961675 c.3583G>A p.V1195M missense 0.00025626●●●●●●
30. 69908196 c.1217C>T p.A406V missense 0.00024718●●●●●●
31. 69881929 c.734C>G p.A245G missense 0.00024119●●●●●●
32. 69926350 c.1900G>A p.G634R missense 0.00023974●●●●●●
33. 69881773 c.578A>G p.Q193R missense 0.00023916●●●●●●
34. 69934077 c.2228C>T p.P743L missense 0.00023064●●●●●●
35. 69948760 c.2802T>A p.H934Q missense 0.00021466●●●●●●
36. 69933942 c.2093A>G p.N698S missense 0.00021416●●●●●●
37. 69881260 c.65C>G p.A22G missense 0.00019809●●●●●●
38. 69881857 c.662A>T p.D221V missense 0.00018961●●●●●●
39. 69955234 c.3103A>G p.M1035V missense 0.00018957●●●●●●
40. 69957155 c.3205C>A p.R1069S missense 0.00018955●●●●●●
41. 69934109 c.2260A>C p.I754L missense 0.00018121●●●●●●
42. 69955253 c.3122T>A p.I1041N missense 0.00016486●●●●●●
43. 69902746 c.952G>A p.V318I missense 0.00016476●●●●●●
44. 69882040 c.845A>G p.E282G missense 0.00015849●●●●●●
45. 69881605 c.410G>C p.R137T missense 0.00015692●●●●●●
46. 69934032 c.2183C>T p.P728L missense 0.00015650●●●●●●
47. 69970183 c.3934C>T p.R1312W missense 0.00015649●●●●●●
48. 69881590 c.395C>T p.P132L missense 0.00014866●●●●●●
49. 69970135 c.3886T>A p.S1296T missense 0.00014826●●●●●●
50. 69970212 c.3963A>G nonsense 0.00014002●●●●●●
51. 69926402 c.1952C>A p.P651Q missense 0.00013506●●●●●●
52. 69902846 c.1052C>T p.S351L missense 0.00013238●●●●●●
53. 69934389 c.2540G>T p.G847V missense 0.00011542●●●●●●
54. 69881977 c.782A>G p.Y261C missense 0.00010015●●●●●●
55. 69881587 c.392G>T p.S131I missense 0.00009911●●●●●●
56. 69926207 c.1757A>G p.N586S missense 0.00009891●●●●●●
57. 69934170 c.2321C>A p.S774Y missense 0.00009886●●●●●●
58. 69881632 c.437C>T p.S146F missense 0.00009088●●●●●●
59. 69881335 c.140C>T p.P47L missense 0.00009075●●●●●●
60. 69948714 c.2756G>A p.R919H missense 0.00008328●●●●●●
61. 69921492 c.1466G>A p.R489Q missense 0.00008314●●●●●●
62. 69926398 c.1948C>T p.P650S missense 0.00007567●●●●●●
63. 69881952 c.757G>C p.G253R missense 0.00007504●●●●●●
64. 69926290 c.1840G>A p.E614K missense 0.00007416●●●●●●
65. 69970067 c.3818C>T p.P1273L missense 0.00007414●●●●●●
66. 69959279 c.3440T>A p.I1147N missense 0.00007414●●●●●●
67. 69918370 c.1445G>A p.R482K missense 0.00006909●●●●●●
68. 69921515 c.1483+6G>C splice site 0.00006725●●●●●●
69. 69948722 c.2764C>T p.R922C missense 0.00006639●●●●●●
70. 69959218 c.3379G>A p.G1127R missense 0.00006593●●●●●●
71. 69881714 c.519T>G p.I173M missense 0.00005781●●●●●●
72. 69948822 c.2864G>A p.R955Q missense 0.00005772●●●●●●
73. 69955262 c.3131G>A p.R1044Q missense 0.00005771●●●●●●
74. 69934095 c.2246G>A p.S749N missense 0.00005766●●●●●●
75. 69961685 c.3593T>C p.M1198T missense 0.00004958●●●●●●
76. 69957104 c.3159-5T>C splice site 0.00004955●●●●●●
77. 69905234 c.1081G>C p.V361L missense 0.00004953●●●●●●
78. 69881499 c.304C>G p.P102A missense 0.00004950●●●●●●
79. 69935118 c.2603C>T p.P868L missense 0.00004946●●●●●●
80. 69902806 c.1012C>T p.R338C missense 0.00004946●●●●●●
81. 69955261 c.3130C>T p.R1044W missense 0.00004946●●●●●●
82. 69933999 c.2150C>T p.T717M missense 0.00004942●●●●●●
83. 69921501 c.1475C>T p.A492V missense 0.00004164●●●●●●
84. 69902873 c.1078+1G>A essential splice site 0.00004156●●●●●●
85. 69905249 c.1096T>C p.S366P missense 0.00004124●●●●●●
86. 69957212 c.3262C>T p.R1088C missense 0.00004124●●●●●●
87. 69881454 c.259C>G p.P87A missense 0.00004123●●●●●●
88. 69926308 c.1858A>G p.T620A missense 0.00004121●●●●●●
89. 69957195 c.3245T>C p.M1082T missense 0.00004121●●●●●●
90. 69908208 c.1229T>C p.V410A missense 0.00004120●●●●●●
91. 69902780 c.986C>T p.A329V missense 0.00004119●●●●●●
92. 69966630 c.3763G>A p.V1255M missense 0.00004119●●●●●●
93. 69934356 c.2507C>T p.S836F missense 0.00004119●●●●●●
94. 69954259 c.3065C>G p.A1022G missense 0.00003335●●●●●●
95. 69909875 c.1317+7A>C splice site 0.00003309●●●●●●
96. 69925493 c.1518T>G p.F506L missense 0.00003305●●●●●●
97. 69881606 c.411G>C p.R137S missense 0.00003304●●●●●●
98. 69961745 c.3653G>A p.R1218K missense 0.00003303●●●●●●
99. 69966664 c.3793+4A>G splice site 0.00003301●●●●●●
100. 69959153 c.3314C>T p.T1105I missense 0.00003300●●●●●●
101. 69905241 c.1088C>T p.S363F missense 0.00003300●●●●●●
102. 69881275 c.80G>C p.R27P missense 0.00003300●●●●●●
103. 69881503 c.308A>T p.D103V missense 0.00003300●●●●●●
104. 69881274 c.79C>G p.R27G missense 0.00003300●●●●●●
105. 69905256 c.1103G>A p.G368D missense 0.00003299●●●●●●
106. 69881380 c.185A>C p.D62A missense 0.00003299●●●●●●
107. 69957120 c.3170G>A p.R1057Q missense 0.00003299●●●●●●
108. 69926167 c.1717C>A p.P573T missense 0.00003298●●●●●●
109. 69926216 c.1766G>A p.R589Q missense 0.00003297●●●●●●
110. 69908205 c.1226G>A p.R409H missense 0.00003296●●●●●●
111. 69935157 c.2642A>T p.N881I missense 0.00003296●●●●●●
112. 69934277 c.2428C>T p.R810C missense 0.00003296●●●●●●
113. 69933909 c.2060A>C p.E687A missense 0.00003295●●●●●●
114. 69970162 c.3913A>G p.M1305V missense 0.00003295●●●●●●
115. 69970097 c.3848G>A p.R1283H missense 0.00003295●●●●●●
116. 69934032 c.2183C>A p.P728H missense 0.00003295●●●●●●
117. 69933954 c.2105C>T p.A702V missense 0.00003295●●●●●●
118. 69918360 c.1435C>A p.P479T missense 0.00002524●●●●●●
119. 69954268 c.3074A>G p.Q1025R missense 0.00002505●●●●●●
120. 69882021 c.826C>T p.R276W missense 0.00002501●●●●●●
121. 69881931 c.736G>A p.A246T missense 0.00002494●●●●●●
122. 69954234 c.3040G>A p.D1014N missense 0.00002492●●●●●●
123. 69948882 c.2924A>C p.K975T missense 0.00002492●●●●●●
124. 69954181 c.2987G>A p.R996Q missense 0.00002490●●●●●●
125. 69881907 c.712G>A p.A238T missense 0.00002484●●●●●●
126. 69959134 c.3295T>G p.L1099V missense 0.00002481●●●●●●
127. 69881721 c.526C>T p.R176C missense 0.00002478●●●●●●
128. 69961720 c.3628G>A p.E1210K missense 0.00002477●●●●●●
129. 69948761 c.2803G>A p.D935N missense 0.00002477●●●●●●
130. 69957111 c.3161G>A p.G1054E missense 0.00002476●●●●●●
131. 69966660 c.3793G>A p.A1265T missense 0.00002475●●●●●●
132. 69948813 c.2855A>G p.K952R missense 0.00002474●●●●●●
133. 69926166 c.1716A>C p.Q572H missense 0.00002474●●●●●●
134. 69905258 c.1105G>A p.D369N missense 0.00002474●●●●●●
135. 69926326 c.1876G>A p.D626N missense 0.00002473●●●●●●
136. 69955236 c.3105G>A p.M1035I missense 0.00002473●●●●●●
137. 69955256 c.3125G>A p.R1042H missense 0.00002473●●●●●●
138. 69926213 c.1763C>T p.P588L missense 0.00002473●●●●●●
139. 69881812 c.617G>A p.R206Q missense 0.00002473●●●●●●
140. 69955267 c.3136A>C p.T1046P missense 0.00002473●●●●●●
141. 69934364 c.2515G>A p.A839T missense 0.00002472●●●●●●
142. 69934217 c.2368A>G p.T790A missense 0.00002472●●●●●●
143. 69908210 c.1231G>A p.A411T missense 0.00002472●●●●●●
144. 69970193 c.3944T>C p.V1315A missense 0.00002471●●●●●●
145. 69934038 c.2189C>T p.T730M missense 0.00002471●●●●●●
146. 69970160 c.3911C>T p.T1304M missense 0.00002471●●●●●●
147. 69970208 c.3959T>C p.L1320P missense 0.00002471●●●●●●
148. 69902737 c.943A>G p.I315V missense 0.00002471●●●●●●
149. 69970184 c.3935G>A p.R1312Q missense 0.00002471●●●●●●
150. 69934005 c.2156G>C p.S719T missense 0.00002471●●●●●●
151. 69926395 c.1945C>G p.P649A missense 0.00001678●●●●●●
152. 69926386 c.1936G>A p.V646M missense 0.00001669●●●●●●
153. 69948714 c.2756G>T p.R919L missense 0.00001666●●●●●●
154. 69882022 c.827G>A p.R276Q missense 0.00001666●●●●●●
155. 69881943 c.748A>C p.T250P missense 0.00001666●●●●●●
156. 69954254 c.3060G>A p.M1020I missense 0.00001665●●●●●●
157. 69921495 c.1469C>G p.S490C missense 0.00001663●●●●●●
158. 69948882 c.2924A>G p.K975R missense 0.00001661●●●●●●
159. 69881211 c.16A>T p.I6L missense 0.00001658●●●●●●
160. 69961645 c.3553G>A p.E1185K missense 0.00001656●●●●●●
161. 69961662 c.3570A>C p.R1190S missense 0.00001654●●●●●●
162. 69902840 c.1046C>T p.T349I missense 0.00001653●●●●●●
163. 69881707 c.512A>G p.K171R missense 0.00001652●●●●●●
164. 69918271 c.1346G>T p.G449V missense 0.00001652●●●●●●
165. 69881599 c.404C>G p.A135G missense 0.00001652●●●●●●
166. 69957106 c.3159-3T>C splice site 0.00001651●●●●●●
167. 69881301 c.106G>C p.E36Q missense 0.00001650●●●●●●
168. 69881316 c.121C>G p.P41A missense 0.00001650●●●●●●
169. 69957227 c.3277G>A p.D1093N missense 0.00001650●●●●●●
170. 69957116 c.3166T>A p.S1056T missense 0.00001650●●●●●●
171. 69902825 c.1031C>T p.S344F missense 0.00001650●●●●●●
172. 69881878 c.683T>C p.L228P missense 0.00001650●●●●●●
173. 69935084 c.2569T>A p.S857T missense 0.00001650●●●●●●
174. 69902807 c.1013G>A p.R338H missense 0.00001649●●●●●●
175. 69926215 c.1765C>T p.R589W missense 0.00001649●●●●●●
176. 69905265 c.1112A>G p.N371S missense 0.00001649●●●●●●
177. 69905286 c.1130+3A>C splice site 0.00001649●●●●●●
178. 69902813 c.1019C>G p.S340C missense 0.00001649●●●●●●
179. 69905291 c.1130+8T>C splice site 0.00001649●●●●●●
180. 69881470 c.275A>G p.D92G missense 0.00001649●●●●●●
181. 69948821 c.2863C>G p.R955G missense 0.00001649●●●●●●
182. 69926074 c.1624G>A p.G542R missense 0.00001649●●●●●●
183. 69909832 c.1281T>G p.D427E missense 0.00001649●●●●●●
184. 69905262 c.1109C>T p.P370L missense 0.00001649●●●●●●
185. 69881857 c.662A>G p.D221G missense 0.00001649●●●●●●
186. 69935145 c.2630G>A p.R877H missense 0.00001648●●●●●●
187. 69934314 c.2465G>A p.R822Q missense 0.00001648●●●●●●
188. 69959254 c.3415C>T p.R1139C missense 0.00001648●●●●●●
189. 69957156 c.3206G>A p.R1069H missense 0.00001648●●●●●●
190. 69934150 c.2301delC p.Ser769LeufsTer92 frameshift 0.00001648●●●●●●
191. 69926257 c.1807C>A p.P603T missense 0.00001648●●●●●●
192. 69933834 c.1985A>C p.Q662P missense 0.00001648●●●●●●
193. 69970073 c.3824T>C p.M1275T missense 0.00001648●●●●●●
194. 69908138 c.1159C>T p.P387S missense 0.00001648●●●●●●
195. 69935169 c.2654G>A p.R885Q missense 0.00001648●●●●●●
196. 69935198 c.2683G>T p.D895Y missense 0.00001648●●●●●●
197. 69902743 c.949A>G p.I317V missense 0.00001648●●●●●●
198. 69957168 c.3218C>A p.P1073Q missense 0.00001648●●●●●●
199. 69935144 c.2629C>T p.R877C missense 0.00001648●●●●●●
200. 69908175 c.1196C>T p.P399L missense 0.00001648●●●●●●
201. 69934238 c.2389T>C p.F797L missense 0.00001648●●●●●●
202. 69959281 c.3442G>A p.A1148T missense 0.00001648●●●●●●
203. 69935145 c.2630G>T p.R877L missense 0.00001648●●●●●●
204. 69970035 c.3794-8T>C splice site 0.00001648●●●●●●
205. 69926221 c.1771A>G p.S591G missense 0.00001648●●●●●●
206. 69926099 c.1649C>T p.T550I missense 0.00001648●●●●●●
207. 69970045 c.3796C>T p.Q1266X nonsense 0.00001648●●●●●●
208. 69957155 c.3205C>T p.R1069C missense 0.00001648●●●●●●
209. 69933900 c.2051C>G p.S684C missense 0.00001647●●●●●●
210. 69934008 c.2159T>G p.L720W missense 0.00001647●●●●●●
211. 69970172 c.3923C>T p.S1308L missense 0.00001647●●●●●●
212. 69970102 c.3853G>A p.G1285R missense 0.00001647●●●●●●
213. 69934077 c.2228C>A p.P743Q missense 0.00001647●●●●●●
214. 69970103 c.3854G>A p.G1285E missense 0.00001647●●●●●●
215. 69933963 c.2114C>T p.T705I missense 0.00001647●●●●●●
216. 69918390 c.1459+6T>C splice site 0.00001021●●●●●●
217. 69918377 c.1452A>C p.L484F missense 0.00000893●●●●●●
218. 69948674 c.2716T>G p.S906A missense 0.00000892●●●●●●
219. 69918361 c.1436C>G p.P479R missense 0.00000843●●●●●●
220. 69926394 c.1944G>C p.E648D missense 0.00000839●●●●●●
221. 69926395 c.1945C>A p.P649T missense 0.00000839●●●●●●
222. 69882085 c.890C>T p.P297L missense 0.00000838●●●●●●
223. 69918354 c.1429G>C p.D477H missense 0.00000838●●●●●●
224. 69954277 c.3075+8C>T splice site 0.00000838●●●●●●
225. 69926390 c.1940A>T p.K647I missense 0.00000837●●●●●●
226. 69948705 c.2747T>C p.I916T missense 0.00000837●●●●●●
227. 69921508 c.1482A>T splice site 0.00000836●●●●●●
228. 69882066 c.871A>C p.I291L missense 0.00000836●●●●●●
229. 69882060 c.865G>T p.D289Y missense 0.00000836●●●●●●
230. 69882000 c.805C>G p.P269A missense 0.00000835●●●●●●
231. 69881986 c.791C>T p.P264L missense 0.00000835●●●●●●
232. 69961579 c.3494-7T>C splice site 0.00000835●●●●●●
233. 69882048 c.853C>T p.R285X nonsense 0.00000835●●●●●●
234. 69881989 c.794T>C p.L265P missense 0.00000835●●●●●●
235. 69961580 c.3494-6G>A splice site 0.00000835●●●●●●
236. 69881195 c.-1C>A splice site 0.00000835●●●●●●
237. 69882000 c.805C>T p.P269S missense 0.00000835●●●●●●
238. 69961580 c.3494-6G>T splice site 0.00000835●●●●●●
239. 69882051 c.856G>A p.V286I missense 0.00000835●●●●●●
240. 69881946 c.751A>G p.T251A missense 0.00000834●●●●●●
241. 69881950 c.755C>T p.P252L missense 0.00000834●●●●●●
242. 69881971 c.776T>A p.L259Q missense 0.00000834●●●●●●
243. 69881953 c.758G>T p.G253V missense 0.00000834●●●●●●
244. 69882009 c.814A>G p.T272A missense 0.00000834●●●●●●
245. 69882033 c.838G>C p.V280L missense 0.00000833●●●●●●
246. 69882037 c.842C>A p.P281Q missense 0.00000833●●●●●●
247. 69961594 c.3502G>A p.V1168M missense 0.00000833●●●●●●
248. 69948713 c.2755C>G p.R919G missense 0.00000833●●●●●●
249. 69882027 c.832A>G p.R278G missense 0.00000833●●●●●●
250. 69954255 c.3061G>T p.A1021S missense 0.00000833●●●●●●
251. 69908101 c.1131-9A>C splice site 0.00000833●●●●●●
252. 69918349 c.1424T>C p.I475T missense 0.00000833●●●●●●
253. 69954161 c.2967T>G p.N989K missense 0.00000832●●●●●●
254. 69881929 c.734C>T p.A245V missense 0.00000832●●●●●●
255. 69954162 c.2968G>A p.E990K missense 0.00000832●●●●●●
256. 69925569 c.1594G>A p.V532M missense 0.00000831●●●●●●
257. 69925573 c.1598G>C p.R533T missense 0.00000831●●●●●●
258. 69961610 c.3518T>A p.V1173E missense 0.00000831●●●●●●
259. 69954202 c.3008C>G p.S1003C missense 0.00000830●●●●●●
260. 69961625 c.3533T>C p.L1178P missense 0.00000830●●●●●●
261. 69925555 c.1580T>C p.I527T missense 0.00000830●●●●●●
262. 69954216 c.3022T>G p.S1008A missense 0.00000830●●●●●●
263. 69925546 c.1571T>A p.V524E missense 0.00000830●●●●●●
264. 69954192 c.2998G>A p.G1000R missense 0.00000830●●●●●●
265. 69954220 c.3026C>T p.T1009I missense 0.00000830●●●●●●
266. 69954187 c.2993G>A p.G998E missense 0.00000830●●●●●●
267. 69954232 c.3038A>G p.D1013G missense 0.00000830●●●●●●
268. 69881205 c.10G>A p.D4N missense 0.00000830●●●●●●
269. 69925540 c.1565G>A p.G522D missense 0.00000830●●●●●●
270. 69881917 c.722C>G p.A241G missense 0.00000829●●●●●●
271. 69918239 c.1318-4A>G splice site 0.00000829●●●●●●
272. 69881212 c.17T>C p.I6T missense 0.00000829●●●●●●
273. 69961636 c.3544G>A p.G1182S missense 0.00000829●●●●●●
274. 69925530 c.1555A>G p.N519D missense 0.00000829●●●●●●
275. 69881914 c.719A>G p.Q240R missense 0.00000829●●●●●●
276. 69918247 c.1322T>C p.L441P missense 0.00000828●●●●●●
277. 69902852 c.1058_1060delCTG p.Ala354del inframe 0.00000828●●●●●●
278. 69926362 c.1912A>C p.K638Q missense 0.00000828●●●●●●
279. 69881910 c.715G>C p.E239Q missense 0.00000828●●●●●●
280. 69948855 c.2897G>C p.C966S missense 0.00000828●●●●●●
281. 69905224 c.1079-8T>C splice site 0.00000828●●●●●●
282. 69961657 c.3565G>A p.V1189M missense 0.00000827●●●●●●
283. 69881233 c.38C>G p.S13C missense 0.00000827●●●●●●
284. 69902840 c.1046C>G p.T349R missense 0.00000827●●●●●●
285. 69961661 c.3569G>C p.R1190T missense 0.00000827●●●●●●
286. 69961664 c.3572T>G p.L1191R missense 0.00000827●●●●●●
287. 69881902 c.707G>A p.R236H missense 0.00000827●●●●●●
288. 69881232 c.37T>A p.S13T missense 0.00000827●●●●●●
289. 69961654 c.3562C>A p.P1188T missense 0.00000827●●●●●●
290. 69961672 c.3580C>T p.R1194C missense 0.00000827●●●●●●
291. 69926345 c.1895T>G p.F632C missense 0.00000826●●●●●●
292. 69881704 c.509C>A p.S170Y missense 0.00000826●●●●●●
293. 69881569 c.374C>T p.P125L missense 0.00000826●●●●●●
294. 69934409 c.2560T>A p.S854T missense 0.00000826●●●●●●
295. 69926048 c.1601-3C>T splice site 0.00000826●●●●●●
296. 69961716 c.3624C>A p.D1208E missense 0.00000826●●●●●●
297. 69961746 c.3654G>C p.R1218S missense 0.00000826●●●●●●
298. 69881245 c.50G>A p.R17K missense 0.00000826●●●●●●
299. 69881650 c.455A>G p.N152S missense 0.00000826●●●●●●
300. 69934406 c.2557C>G p.P853A missense 0.00000826●●●●●●
301. 69961691 c.3599C>G p.P1200R missense 0.00000826●●●●●●
302. 69881252 c.57C>G p.S19R missense 0.00000826●●●●●●
303. 69881712 c.517A>G p.I173V missense 0.00000826●●●●●●
304. 69881653 c.458A>C p.K153T missense 0.00000826●●●●●●
305. 69881576 c.381C>G p.S127R missense 0.00000826●●●●●●
306. 69957105 c.3159-4A>T splice site 0.00000826●●●●●●
307. 69959144 c.3305C>T p.P1102L missense 0.00000826●●●●●●
308. 69961740 c.3648A>T p.R1216S missense 0.00000826●●●●●●
309. 69926339 c.1889A>G p.E630G missense 0.00000826●●●●●●
310. 69909869 c.1317+1G>A essential splice site 0.00000826●●●●●●
311. 69881668 c.473T>C p.I158T missense 0.00000826●●●●●●
312. 69881629 c.434A>G p.Q145R missense 0.00000826●●●●●●
313. 69948764 c.2806G>A p.E936K missense 0.00000826●●●●●●
314. 69881558 c.363C>G p.N121K missense 0.00000826●●●●●●
315. 69902834 c.1040A>G p.Y347C missense 0.00000826●●●●●●
316. 69961702 c.3610T>C p.Y1204H missense 0.00000826●●●●●●
317. 69925486 c.1511A>G p.E504G missense 0.00000826●●●●●●
318. 69881578 c.383C>T p.S128F missense 0.00000826●●●●●●
319. 69905240 c.1087T>G p.S363A missense 0.00000825●●●●●●
320. 69955290 c.3158+1G>A essential splice site 0.00000825●●●●●●
321. 69881749 c.554T>A p.L185Q missense 0.00000825●●●●●●
322. 69948767 c.2809A>C p.I937L missense 0.00000825●●●●●●
323. 69926059 c.1609G>T p.D537Y missense 0.00000825●●●●●●
324. 69948789 c.2831C>A p.A944D missense 0.00000825●●●●●●
325. 69926185 c.1735G>A p.E579K missense 0.00000825●●●●●●
326. 69881490 c.295C>T p.R99X nonsense 0.00000825●●●●●●
327. 69966667 c.3793+7G>C splice site 0.00000825●●●●●●
328. 69957221 c.3271C>T p.R1091W missense 0.00000825●●●●●●
329. 69935090 c.2575G>A p.G859R missense 0.00000825●●●●●●
330. 69955297 c.3158+8C>G splice site 0.00000825●●●●●●
331. 69881880 c.685G>A p.E229K missense 0.00000825●●●●●●
332. 69881295 c.100C>T p.R34X nonsense 0.00000825●●●●●●
333. 69957213 c.3263G>A p.R1088H missense 0.00000825●●●●●●
334. 69948842 c.2884G>A p.V962I missense 0.00000825●●●●●●
335. 69905291 c.1130+8T>A splice site 0.00000825●●●●●●
336. 69881466 c.271G>A p.A91T missense 0.00000825●●●●●●
337. 69881451 c.256G>C p.D86H missense 0.00000825●●●●●●
338. 69881317 c.122C>T p.P41L missense 0.00000825●●●●●●
339. 69881307 c.112T>A p.S38T missense 0.00000825●●●●●●
340. 69881275 c.80G>A p.R27Q missense 0.00000825●●●●●●
341. 69934403 c.2554G>A p.A852T missense 0.00000825●●●●●●
342. 69881772 c.577C>A p.Q193K missense 0.00000825●●●●●●
343. 69881389 c.194C>T p.A65V missense 0.00000825●●●●●●
344. 69926168 c.1718C>T p.P573L missense 0.00000825●●●●●●
345. 69926072 c.1622A>T p.N541I missense 0.00000825●●●●●●
346. 69959324 c.3485C>T p.S1162F missense 0.00000825●●●●●●
347. 69925470 c.1495A>G p.T499A missense 0.00000825●●●●●●
348. 69881542 c.347A>G p.N116S missense 0.00000825●●●●●●
349. 69966667 c.3793+7G>A splice site 0.00000825●●●●●●
350. 69881476 c.281C>G p.T94S missense 0.00000825●●●●●●
351. 69881344 c.149C>T p.A50V missense 0.00000825●●●●●●
352. 69957210 c.3260G>C p.G1087A missense 0.00000825●●●●●●
353. 69935097 c.2582C>T p.A861V missense 0.00000825●●●●●●
354. 69918295 c.1370G>T p.R457I missense 0.00000825●●●●●●
355. 69905274 c.1121A>G p.E374G missense 0.00000825●●●●●●
356. 69881886 c.691C>A p.Q231K missense 0.00000825●●●●●●
357. 69881295 c.100C>G p.R34G missense 0.00000825●●●●●●
358. 69881734 c.539A>C p.N180T missense 0.00000825●●●●●●
359. 69881361 c.166G>C p.G56R missense 0.00000825●●●●●●
360. 69948774 c.2816C>T p.T939M missense 0.00000825●●●●●●
361. 69959173 c.3334C>G p.P1112A missense 0.00000825●●●●●●
362. 69881323 c.128A>G p.H43R missense 0.00000825●●●●●●
363. 69925452 c.1484-7C>T splice site 0.00000825●●●●●●
364. 69881315 c.120C>A p.N40K missense 0.00000825●●●●●●
365. 69881308 c.113C>T p.S38F missense 0.00000825●●●●●●
366. 69881277 c.82G>C p.G28R missense 0.00000825●●●●●●
367. 69881786 c.591_592delCA p.Ser198PhefsTer24 frameshift 0.00000825●●●●●●
368. 69925479 c.1504A>G p.I502V missense 0.00000825●●●●●●
369. 69957231 c.3281G>A p.C1094Y missense 0.00000825●●●●●●
370. 69948839 c.2881C>G p.P961A missense 0.00000825●●●●●●
371. 69881425 c.230A>G p.N77S missense 0.00000825●●●●●●
372. 69905277 c.1124T>C p.M375T missense 0.00000825●●●●●●
373. 69955295 c.3158+6G>T splice site 0.00000825●●●●●●
374. 69918297 c.1372G>A p.V458I missense 0.00000825●●●●●●
375. 69881459 c.264G>C p.L88F missense 0.00000825●●●●●●
376. 69881299 c.104C>T p.A35V missense 0.00000825●●●●●●
377. 69905234 c.1081G>T p.V361F missense 0.00000825●●●●●●
378. 69935078 c.2565-2A>G essential splice site 0.00000825●●●●●●
379. 69881743 c.548G>A p.S183N missense 0.00000825●●●●●●
380. 69935085 c.2570C>T p.S857F missense 0.00000825●●●●●●
381. 69948782 c.2824T>C p.C942R missense 0.00000825●●●●●●
382. 69881479 c.284A>C p.Q95P missense 0.00000825●●●●●●
383. 69881329 c.134G>T p.G45V missense 0.00000825●●●●●●
384. 69925453 c.1484-6A>G splice site 0.00000825●●●●●●
385. 69955276 c.3145G>C p.G1049R missense 0.00000825●●●●●●
386. 69881287 c.92A>C p.E31A missense 0.00000825●●●●●●
387. 69966654 c.3787A>G p.I1263V missense 0.00000825●●●●●●
388. 69905282 c.1129C>T p.R377X nonsense 0.00000825●●●●●●
389. 69948834 c.2876G>A p.G959D missense 0.00000825●●●●●●
390. 69902827 c.1033A>G p.N345D missense 0.00000825●●●●●●
391. 69881514 c.319C>T p.H107Y missense 0.00000825●●●●●●
392. 69881464 c.269A>G p.K90R missense 0.00000825●●●●●●
393. 69881446 c.251A>G p.N84S missense 0.00000825●●●●●●
394. 69966535 c.3668A>G p.Q1223R missense 0.00000824●●●●●●
395. 69908141 c.1162C>T p.P388S missense 0.00000824●●●●●●
396. 69955216 c.3085A>G p.S1029G missense 0.00000824●●●●●●
397. 69934387 c.2538G>A p.M846I missense 0.00000824●●●●●●
398. 69908178 c.1199A>G p.Q400R missense 0.00000824●●●●●●
399. 69926267 c.1817delA p.Asp606AlafsTer13 frameshift 0.00000824●●●●●●
400. 69934193 c.2344A>G p.N782D missense 0.00000824●●●●●●
401. 69881797 c.602A>C p.D201A missense 0.00000824●●●●●●
402. 69934089 c.2240T>C p.L747S missense 0.00000824●●●●●●
403. 69902796 c.1002G>C p.E334D missense 0.00000824●●●●●●
404. 69902737 c.943A>C p.I315L missense 0.00000824●●●●●●
405. 69959197 c.3358A>C p.K1120Q missense 0.00000824●●●●●●
406. 69933828 c.1979C>T p.S660F missense 0.00000824●●●●●●
407. 69970184 c.3935G>C p.R1312P missense 0.00000824●●●●●●
408. 69959230 c.3391C>G p.L1131V missense 0.00000824●●●●●●
409. 69934122 c.2273T>C p.V758A missense 0.00000824●●●●●●
410. 69970124 c.3875T>C p.L1292P missense 0.00000824●●●●●●
411. 69935210 c.2695A>C p.N899H missense 0.00000824●●●●●●
412. 69935180 c.2665A>G p.K889E missense 0.00000824●●●●●●
413. 69933980 c.2131A>G p.K711E missense 0.00000824●●●●●●
414. 69966605 c.3738G>T p.L1246F missense 0.00000824●●●●●●
415. 69955259 c.3128G>T p.S1043I missense 0.00000824●●●●●●
416. 69933830 c.1981A>T p.T661S missense 0.00000824●●●●●●
417. 69909798 c.1247G>A p.C416Y missense 0.00000824●●●●●●
418. 69934269 c.2420T>C p.F807S missense 0.00000824●●●●●●
419. 69908126 c.1147G>A p.E383K missense 0.00000824●●●●●●
420. 69970069 c.3820C>T p.P1274S missense 0.00000824●●●●●●
421. 69935168 c.2653C>T p.R885X nonsense 0.00000824●●●●●●
422. 69926102 c.1652C>T p.T551I missense 0.00000824●●●●●●
423. 69959296 c.3457G>A p.G1153R missense 0.00000824●●●●●●
424. 69934161 c.2312A>G p.Q771R missense 0.00000824●●●●●●
425. 69926140 c.1690C>G p.H564D missense 0.00000824●●●●●●
426. 69959214 c.3375G>T p.E1125D missense 0.00000824●●●●●●
427. 69934362 c.2513C>G p.P838R missense 0.00000824●●●●●●
428. 69934037 c.2188A>G p.T730A missense 0.00000824●●●●●●
429. 69902719 c.925C>T p.L309F missense 0.00000824●●●●●●
430. 69970165 c.3916G>A p.V1306M missense 0.00000824●●●●●●
431. 69935138 c.2623A>G p.N875D missense 0.00000824●●●●●●
432. 69933864 c.2015T>C p.L672P missense 0.00000824●●●●●●
433. 69926222 c.1772G>A p.S591N missense 0.00000824●●●●●●
434. 69970096 c.3847C>T p.R1283C missense 0.00000824●●●●●●
435. 69970048 c.3799T>C p.W1267R missense 0.00000824●●●●●●
436. 69908199 c.1220A>G p.Q407R missense 0.00000824●●●●●●
437. 69966564 c.3697A>T p.I1233F missense 0.00000824●●●●●●
438. 69934233 c.2384C>A p.P795Q missense 0.00000824●●●●●●
439. 69934200 c.2351C>G p.P784R missense 0.00000824●●●●●●
440. 69881798 c.603T>G p.D201E missense 0.00000824●●●●●●
441. 69934136 c.2287C>G p.L763V missense 0.00000824●●●●●●
442. 69966601 c.3734C>T p.T1245M missense 0.00000824●●●●●●
443. 69970204 c.3955G>T p.E1319X nonsense 0.00000824●●●●●●
444. 69970188 c.3939T>G p.S1313R missense 0.00000824●●●●●●
445. 69959233 c.3394C>T p.L1132F missense 0.00000824●●●●●●
446. 69902702 c.908A>G p.Y303C missense 0.00000824●●●●●●
447. 69933973 c.2124G>T p.K708N missense 0.00000824●●●●●●
448. 69881799 c.604C>A p.L202M missense 0.00000824●●●●●●
449. 69970145 c.3896C>T p.S1299F missense 0.00000824●●●●●●
450. 69935184 c.2669A>C p.K890T missense 0.00000824●●●●●●
451. 69933986 c.2137C>T p.P713S missense 0.00000824●●●●●●
452. 69966613 c.3746A>G p.K1249R missense 0.00000824●●●●●●
453. 69935120 c.2605C>G p.Q869E missense 0.00000824●●●●●●
454. 69926236 c.1786C>T p.L596F missense 0.00000824●●●●●●
455. 69934274 c.2425C>A p.P809T missense 0.00000824●●●●●●
456. 69926330 c.1880C>G p.S627C missense 0.00000824●●●●●●
457. 69934365 c.2516C>A p.A839D missense 0.00000824●●●●●●
458. 69934170 c.2321C>G p.S774C missense 0.00000824●●●●●●
459. 69926140 c.1690C>A p.H564N missense 0.00000824●●●●●●
460. 69926239 c.1789C>T p.R597C missense 0.00000824●●●●●●
461. 69934044 c.2195C>T p.T732I missense 0.00000824●●●●●●
462. 69902734 c.940G>C p.D314H missense 0.00000824●●●●●●
463. 69933925 c.2076G>T p.M692I missense 0.00000824●●●●●●
464. 69957196 c.3246G>T p.M1082I missense 0.00000824●●●●●●
465. 69966571 c.3704C>T p.P1235L missense 0.00000824●●●●●●
466. 69955259 c.3128G>A p.S1043N missense 0.00000824●●●●●●
467. 69966532 c.3665A>G p.H1222R missense 0.00000824●●●●●●
468. 69955253 c.3122T>C p.I1041T missense 0.00000824●●●●●●
469. 69909824 c.1273G>A p.G425R missense 0.00000824●●●●●●
470. 69926276 c.1826G>A p.S609N missense 0.00000824●●●●●●
471. 69934235 c.2386C>T p.P796S missense 0.00000824●●●●●●
472. 69970190 c.3941T>C p.V1314A missense 0.00000824●●●●●●
473. 69934143 c.2294T>C p.V765A missense 0.00000824●●●●●●
474. 69926107 c.1657C>A p.L553M missense 0.00000824●●●●●●
475. 69934112 c.2263C>G p.Q755E missense 0.00000824●●●●●●
476. 69966634 c.3767C>T p.S1256L missense 0.00000824●●●●●●
477. 69934004 c.2155A>G p.S719G missense 0.00000824●●●●●●
478. 69902708 c.914A>G p.E305G missense 0.00000824●●●●●●
479. 69934017 c.2168C>T p.P723L missense 0.00000824●●●●●●
480. 69970150 c.3901A>G p.M1301V missense 0.00000824●●●●●●
481. 69934019 c.2170A>G p.K724E missense 0.00000824●●●●●●
482. 69970052 c.3803A>G p.H1268R missense 0.00000824●●●●●●
483. 69957144 c.3194C>T p.P1065L missense 0.00000824●●●●●●
484. 69935132 c.2617G>T p.D873Y missense 0.00000824●●●●●●
485. 69933887 c.2038C>G p.P680A missense 0.00000824●●●●●●
486. 69935113 c.2598G>T p.K866N missense 0.00000824●●●●●●
487. 69933853 c.2004C>A p.N668K missense 0.00000824●●●●●●
488. 69908228 c.1245+4C>T splice site 0.00000824●●●●●●
489. 69955208 c.3077G>A p.G1026E missense 0.00000824●●●●●●
490. 69934383 c.2534C>T p.A845V missense 0.00000824●●●●●●
491. 69934310 c.2461A>G p.S821G missense 0.00000824●●●●●●
492. 69908169 c.1190C>G p.A397G missense 0.00000824●●●●●●
493. 69959181 c.3342_3343delAC p.P1115Rfs*19 frameshift 0.00000824●●●●●●
494. 69934191 c.2342A>C p.Q781P missense 0.00000824●●●●●●
495. 69926150 c.1700C>G p.P567R missense 0.00000824●●●●●●
496. 69934203 c.2354T>A p.L785H missense 0.00000824●●●●●●
497. 69933820 c.1974-3C>T splice site 0.00000824●●●●●●
498. 69959225 c.3386A>G p.H1129R missense 0.00000824●●●●●●
499. 69926105 c.1655A>G p.N552S missense 0.00000824●●●●●●
500. 69902778 c.984T>G p.I328M missense 0.00000824●●●●●●
501. 69957197 c.3247G>T p.V1083L missense 0.00000824●●●●●●
502. 69935208 c.2693C>T p.P898L missense 0.00000824●●●●●●
503. 69957171 c.3221A>G p.H1074R missense 0.00000824●●●●●●
504. 69909797 c.1246T>C p.C416R missense 0.00000824●●●●●●
505. 69966585 c.3718G>A p.D1240N missense 0.00000824●●●●●●
506. 69881845 c.650C>T p.A217V missense 0.00000824●●●●●●
507. 69935159 c.2644G>A p.A882T missense 0.00000824●●●●●●
508. 69881840 c.645C>G p.I215M missense 0.00000824●●●●●●
509. 69934258 c.2409C>A p.S803R missense 0.00000824●●●●●●
510. 69926317 c.1867A>T p.T623S missense 0.00000824●●●●●●
511. 69881820 c.625_627delTCT p.Ser209del inframe 0.00000824●●●●●●
512. 69959294 c.3455C>T p.T1152I missense 0.00000824●●●●●●
513. 69934151 c.2302C>T p.P768S missense 0.00000824●●●●●●
514. 69926122 c.1672C>T p.P558S missense 0.00000824●●●●●●
515. 69970151 c.3902T>C p.M1301T missense 0.00000824●●●●●●
516. 69902711 c.917G>A p.G306D missense 0.00000824●●●●●●
517. 69970163 c.3914T>C p.M1305T missense 0.00000824●●●●●●
518. 69959189 c.3350C>T p.A1117V missense 0.00000824●●●●●●
519. 69933862 c.2013A>C p.L671F missense 0.00000824●●●●●●
520. 69970054 c.3805C>G p.H1269D missense 0.00000824●●●●●●
521. 69908187 c.1208A>T p.H403L missense 0.00000824●●●●●●
522. 69935136 c.2621A>G p.D874G missense 0.00000824●●●●●●
523. 69933899 c.2050T>A p.S684T 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.