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. 69902746 c.952G>A p.V318I missense 0.00016476●●●●●●
2. 69908157 c.1178T>C p.V393A missense 0.04523660●●●●●●
3. 69918324 c.1399G>A p.E467K missense 0.01369693●●●●●●
4. 69926334 c.1884C>G p.F628L missense 0.43825296●●●●●●
5. 69933921 c.2072G>A p.S691N missense 0.43076860●●●●●●
6. 69933969 c.2120G>A p.S707N missense 0.42584110●●●●●●
7. 69934258 c.2409C>G p.S803R missense 0.52048775●●●●●●
8. 69934259 c.2410G>A p.G804R missense 0.01838023●●●●●●
9. 69934296 c.2447C>T p.P816L missense 0.00324611●●●●●●
10. 69935157 c.2642A>T p.N881I missense 0.00003296●●●●●●
11. 69954181 c.2987G>A p.R996Q missense 0.00002490●●●●●●
12. 69957213 c.3263G>A p.R1088H missense 0.00000825●●●●●●
13. 69959174 c.3335C>T p.P1112L missense 0.00303440●●●●●●
14. 69959242 c.3403C>A p.P1135T missense 0.43227827●●●●●●
15. 69961675 c.3583G>A p.V1195M missense 0.00025626●●●●●●
16. 69881254 c.59A>G p.Y20C missense 0.00091633●●●●●●
17. 69881260 c.65C>G p.A22G missense 0.00019809●●●●●●
18. 69881389 c.194C>T p.A65V missense 0.00000825●●●●●●
19. 69881599 c.404C>G p.A135G missense 0.00001652●●●●●●
20. 69881840 c.645C>G p.I215M missense 0.00000824●●●●●●
21. 69881929 c.734C>G p.A245G missense 0.00024119●●●●●●
22. 69881977 c.782A>G p.Y261C missense 0.00010015●●●●●●
23. 69882040 c.845A>G p.E282G missense 0.00015849●●●●●●
24. 69882085 c.890C>T p.P297L missense 0.00000838●●●●●●
25. 69902780 c.986C>T p.A329V missense 0.00004119●●●●●●
26. 69902806 c.1012C>T p.R338C missense 0.00004946●●●●●●
27. 69902807 c.1013G>A p.R338H missense 0.00001649●●●●●●
28. 69905283 c.1130G>A p.R377Q missense 0.00048650●●●●●●
29. 69908175 c.1196C>T p.P399L missense 0.00001648●●●●●●
30. 69921492 c.1466G>A p.R489Q missense 0.00008314●●●●●●
31. 69926215 c.1765C>T p.R589W missense 0.00001649●●●●●●
32. 69926236 c.1786C>T p.L596F missense 0.00000824●●●●●●
33. 69926240 c.1790G>A p.R597H missense 0.00044500●●●●●●
34. 69926290 c.1840G>A p.E614K missense 0.00007416●●●●●●
35. 69926308 c.1858A>G p.T620A missense 0.00004121●●●●●●
36. 69926350 c.1900G>A p.G634R missense 0.00023974●●●●●●
37. 69933954 c.2105C>T p.A702V missense 0.00003295●●●●●●
38. 69933999 c.2150C>T p.T717M missense 0.00004942●●●●●●
39. 69934077 c.2228C>T p.P743L missense 0.00023064●●●●●●
40. 69934085 c.2236A>G p.T746A missense 0.00065075●●●●●●
41. 69934170 c.2321C>A p.S774Y missense 0.00009886●●●●●●
42. 69948821 c.2863C>T p.R955W missense 0.00042875●●●●●●
43. 69948839 c.2881C>G p.P961A missense 0.00000825●●●●●●
44. 69955255 c.3124C>T p.R1042C missense 0.00039567●●●●●●
45. 69955256 c.3125G>A p.R1042H missense 0.00002473●●●●●●
46. 69955262 c.3131G>A p.R1044Q missense 0.00005771●●●●●●
47. 69957120 c.3170G>A p.R1057Q missense 0.00003299●●●●●●
48. 69959254 c.3415C>T p.R1139C missense 0.00001648●●●●●●
49. 69959260 c.3421G>A p.A1141T missense 0.00108746●●●●●●
50. 69959320 c.3481C>A p.L1161I missense 0.00329592●●●●●●
51. 69961645 c.3553G>A p.E1185K missense 0.00001656●●●●●●
52. 69966601 c.3734C>T p.T1245M missense 0.00000824●●●●●●
53. 69970067 c.3818C>T p.P1273L missense 0.00007414●●●●●●
54. 69970082 c.3833G>A p.R1278Q missense 0.00046131●●●●●●
55. 69970095 c.3846T>A p.S1282R missense 0.00051067●●●●●●
56. 69970183 c.3934C>T p.R1312W missense 0.00015649●●●●●●
57. 69881361 c.166G>C p.G56R missense 0.00000825●●●●●●
58. 69881668 c.473T>C p.I158T missense 0.00000826●●●●●●
59. 69881857 c.662A>T p.D221V missense 0.00018961●●●●●●
60. 69925546 c.1571T>A p.V524E missense 0.00000830●●●●●●
61. 69933942 c.2093A>G p.N698S missense 0.00021416●●●●●●
62. 69934389 c.2540G>T p.G847V missense 0.00011542●●●●●●
63. 69948714 c.2756G>A p.R919H missense 0.00008328●●●●●●
64. 69908208 c.1229T>C p.V410A missense 0.00004120●●●●●●
65. 69935159 c.2644G>A p.A882T missense 0.00000824●●●●●●
66. 69881587 c.392G>T p.S131I missense 0.00009911●●●●●●
67. 69881590 c.395C>T p.P132L missense 0.00014866●●●●●●
68. 69881952 c.757G>C p.G253R missense 0.00007504●●●●●●
69. 69881971 c.776T>A p.L259Q missense 0.00000834●●●●●●
70. 69881997 c.802C>T p.P268S missense 0.00030066●●●●●●
71. 69908141 c.1162C>T p.P388S missense 0.00000824●●●●●●
72. 69908205 c.1226G>A p.R409H missense 0.00003296●●●●●●
73. 69926213 c.1763C>T p.P588L missense 0.00002473●●●●●●
74. 69934109 c.2260A>C p.I754L missense 0.00018121●●●●●●
75. 69934409 c.2560T>A p.S854T missense 0.00000826●●●●●●
76. 69948822 c.2864G>A p.R955Q missense 0.00005772●●●●●●
77. 69948882 c.2924A>C p.K975T missense 0.00002492●●●●●●
78. 69955234 c.3103A>G p.M1035V missense 0.00018957●●●●●●
79. 69957210 c.3260G>C p.G1087A missense 0.00000825●●●●●●
80. 69959144 c.3305C>T p.P1102L missense 0.00000826●●●●●●
81. 69959279 c.3440T>A p.I1147N missense 0.00007414●●●●●●
82. 69970135 c.3886T>A p.S1296T missense 0.00014826●●●●●●
83. 69970208 c.3959T>C p.L1320P missense 0.00002471●●●●●●
84. 69881380 c.185A>C p.D62A missense 0.00003299●●●●●●
85. 69881454 c.259C>G p.P87A missense 0.00004123●●●●●●
86. 69881476 c.281C>G p.T94S missense 0.00000825●●●●●●
87. 69881558 c.363C>G p.N121K missense 0.00000826●●●●●●
88. 69881569 c.374C>T p.P125L missense 0.00000826●●●●●●
89. 69881799 c.604C>A p.L202M missense 0.00000824●●●●●●
90. 69881878 c.683T>C p.L228P missense 0.00001650●●●●●●
91. 69882051 c.856G>A p.V286I missense 0.00000835●●●●●●
92. 69918271 c.1346G>T p.G449V missense 0.00001652●●●●●●
93. 69926105 c.1655A>G p.N552S missense 0.00000824●●●●●●
94. 69926185 c.1735G>A p.E579K missense 0.00000825●●●●●●
95. 69926239 c.1789C>T p.R597C missense 0.00000824●●●●●●
96. 69933828 c.1979C>T p.S660F missense 0.00000824●●●●●●
97. 69934038 c.2189C>T p.T730M missense 0.00002471●●●●●●
98. 69934235 c.2386C>T p.P796S missense 0.00000824●●●●●●
99. 69934277 c.2428C>T p.R810C missense 0.00003296●●●●●●
100. 69934314 c.2465G>A p.R822Q missense 0.00001648●●●●●●
101. 69934356 c.2507C>T p.S836F missense 0.00004119●●●●●●
102. 69935085 c.2570C>T p.S857F missense 0.00000825●●●●●●
103. 69935145 c.2630G>A p.R877H missense 0.00001648●●●●●●
104. 69935169 c.2654G>A p.R885Q missense 0.00001648●●●●●●
105. 69955267 c.3136A>C p.T1046P missense 0.00002473●●●●●●
106. 69957155 c.3205C>A p.R1069S missense 0.00018955●●●●●●
107. 69957212 c.3262C>T p.R1088C missense 0.00004124●●●●●●
108. 69961662 c.3570A>C p.R1190S missense 0.00001654●●●●●●
109. 69966654 c.3787A>G p.I1263V missense 0.00000825●●●●●●
110. 69970069 c.3820C>T p.P1274S missense 0.00000824●●●●●●
111. 69970073 c.3824T>C p.M1275T missense 0.00001648●●●●●●
112. 69970097 c.3848G>A p.R1283H missense 0.00003295●●●●●●
113. 69934014 c.2165G>A p.R722Q missense 0.00027180●●●●●●
114. 69966630 c.3763G>A p.V1255M missense 0.00004119●●●●●●
115. 69957117 c.3167C>T p.S1056F missense 0.00056927●●●●●●
116. 69881275 c.80G>A p.R27Q missense 0.00000825●●●●●●
117. 69881308 c.113C>T p.S38F missense 0.00000825●●●●●●
118. 69881845 c.650C>T p.A217V missense 0.00000824●●●●●●
119. 69882000 c.805C>G p.P269A missense 0.00000835●●●●●●
120. 69882037 c.842C>A p.P281Q missense 0.00000833●●●●●●
121. 69902834 c.1040A>G p.Y347C missense 0.00000826●●●●●●
122. 69905249 c.1096T>C p.S366P missense 0.00004124●●●●●●
123. 69905256 c.1103G>A p.G368D missense 0.00003299●●●●●●
124. 69905277 c.1124T>C p.M375T missense 0.00000825●●●●●●
125. 69908187 c.1208A>T p.H403L missense 0.00000824●●●●●●
126. 69908196 c.1217C>T p.A406V missense 0.00024718●●●●●●
127. 69926166 c.1716A>C p.Q572H missense 0.00002474●●●●●●
128. 69926207 c.1757A>G p.N586S missense 0.00009891●●●●●●
129. 69926222 c.1772G>A p.S591N missense 0.00000824●●●●●●
130. 69926394 c.1944G>C p.E648D missense 0.00000839●●●●●●
131. 69926402 c.1952C>A p.P651Q missense 0.00013506●●●●●●
132. 69933900 c.2051C>G p.S684C missense 0.00001647●●●●●●
133. 69933973 c.2124G>T p.K708N missense 0.00000824●●●●●●
134. 69934017 c.2168C>T p.P723L missense 0.00000824●●●●●●
135. 69934032 c.2183C>T p.P728L missense 0.00015650●●●●●●
136. 69934362 c.2513C>G p.P838R missense 0.00000824●●●●●●
137. 69935198 c.2683G>T p.D895Y missense 0.00001648●●●●●●
138. 69948705 c.2747T>C p.I916T missense 0.00000837●●●●●●
139. 69948714 c.2756G>T p.R919L missense 0.00001666●●●●●●
140. 69954192 c.2998G>A p.G1000R missense 0.00000830●●●●●●
141. 69955261 c.3130C>T p.R1044W missense 0.00004946●●●●●●
142. 69959197 c.3358A>C p.K1120Q missense 0.00000824●●●●●●
143. 69959324 c.3485C>T p.S1162F missense 0.00000825●●●●●●
144. 69966634 c.3767C>T p.S1256L missense 0.00000824●●●●●●
145. 69881205 c.10G>A p.D4N missense 0.00000830●●●●●●
146. 69881211 c.16A>T p.I6L missense 0.00001658●●●●●●
147. 69881212 c.17T>C p.I6T missense 0.00000829●●●●●●
148. 69881232 c.37T>A p.S13T missense 0.00000827●●●●●●
149. 69881233 c.38C>G p.S13C missense 0.00000827●●●●●●
150. 69881245 c.50G>A p.R17K missense 0.00000826●●●●●●
151. 69881252 c.57C>G p.S19R missense 0.00000826●●●●●●
152. 69881274 c.79C>G p.R27G missense 0.00003300●●●●●●
153. 69881275 c.80G>C p.R27P missense 0.00003300●●●●●●
154. 69881277 c.82G>C p.G28R missense 0.00000825●●●●●●
155. 69881287 c.92A>C p.E31A missense 0.00000825●●●●●●
156. 69881295 c.100C>G p.R34G missense 0.00000825●●●●●●
157. 69881299 c.104C>T p.A35V missense 0.00000825●●●●●●
158. 69881301 c.106G>C p.E36Q missense 0.00001650●●●●●●
159. 69881307 c.112T>A p.S38T missense 0.00000825●●●●●●
160. 69881315 c.120C>A p.N40K missense 0.00000825●●●●●●
161. 69881316 c.121C>G p.P41A missense 0.00001650●●●●●●
162. 69881317 c.122C>T p.P41L missense 0.00000825●●●●●●
163. 69881323 c.128A>G p.H43R missense 0.00000825●●●●●●
164. 69881329 c.134G>T p.G45V missense 0.00000825●●●●●●
165. 69881335 c.140C>T p.P47L missense 0.00009075●●●●●●
166. 69881344 c.149C>T p.A50V missense 0.00000825●●●●●●
167. 69881425 c.230A>G p.N77S missense 0.00000825●●●●●●
168. 69881446 c.251A>G p.N84S missense 0.00000825●●●●●●
169. 69881451 c.256G>C p.D86H missense 0.00000825●●●●●●
170. 69881459 c.264G>C p.L88F missense 0.00000825●●●●●●
171. 69881464 c.269A>G p.K90R missense 0.00000825●●●●●●
172. 69881466 c.271G>A p.A91T missense 0.00000825●●●●●●
173. 69881470 c.275A>G p.D92G missense 0.00001649●●●●●●
174. 69881479 c.284A>C p.Q95P missense 0.00000825●●●●●●
175. 69881499 c.304C>G p.P102A missense 0.00004950●●●●●●
176. 69881503 c.308A>T p.D103V missense 0.00003300●●●●●●
177. 69881514 c.319C>T p.H107Y missense 0.00000825●●●●●●
178. 69881542 c.347A>G p.N116S missense 0.00000825●●●●●●
179. 69881576 c.381C>G p.S127R missense 0.00000826●●●●●●
180. 69881578 c.383C>T p.S128F missense 0.00000826●●●●●●
181. 69881605 c.410G>C p.R137T missense 0.00015692●●●●●●
182. 69881606 c.411G>C p.R137S missense 0.00003304●●●●●●
183. 69881629 c.434A>G p.Q145R missense 0.00000826●●●●●●
184. 69881632 c.437C>T p.S146F missense 0.00009088●●●●●●
185. 69881650 c.455A>G p.N152S missense 0.00000826●●●●●●
186. 69881653 c.458A>C p.K153T missense 0.00000826●●●●●●
187. 69881704 c.509C>A p.S170Y missense 0.00000826●●●●●●
188. 69881707 c.512A>G p.K171R missense 0.00001652●●●●●●
189. 69881712 c.517A>G p.I173V missense 0.00000826●●●●●●
190. 69881714 c.519T>G p.I173M missense 0.00005781●●●●●●
191. 69881721 c.526C>T p.R176C missense 0.00002478●●●●●●
192. 69881734 c.539A>C p.N180T missense 0.00000825●●●●●●
193. 69881743 c.548G>A p.S183N missense 0.00000825●●●●●●
194. 69881749 c.554T>A p.L185Q missense 0.00000825●●●●●●
195. 69881772 c.577C>A p.Q193K missense 0.00000825●●●●●●
196. 69881773 c.578A>G p.Q193R missense 0.00023916●●●●●●
197. 69881797 c.602A>C p.D201A missense 0.00000824●●●●●●
198. 69881798 c.603T>G p.D201E missense 0.00000824●●●●●●
199. 69881812 c.617G>A p.R206Q missense 0.00002473●●●●●●
200. 69881857 c.662A>G p.D221G missense 0.00001649●●●●●●
201. 69881880 c.685G>A p.E229K missense 0.00000825●●●●●●
202. 69881886 c.691C>A p.Q231K missense 0.00000825●●●●●●
203. 69881902 c.707G>A p.R236H missense 0.00000827●●●●●●
204. 69881907 c.712G>A p.A238T missense 0.00002484●●●●●●
205. 69881910 c.715G>C p.E239Q missense 0.00000828●●●●●●
206. 69881914 c.719A>G p.Q240R missense 0.00000829●●●●●●
207. 69881917 c.722C>G p.A241G missense 0.00000829●●●●●●
208. 69881929 c.734C>T p.A245V missense 0.00000832●●●●●●
209. 69881931 c.736G>A p.A246T missense 0.00002494●●●●●●
210. 69881943 c.748A>C p.T250P missense 0.00001666●●●●●●
211. 69881946 c.751A>G p.T251A missense 0.00000834●●●●●●
212. 69881950 c.755C>T p.P252L missense 0.00000834●●●●●●
213. 69881953 c.758G>T p.G253V missense 0.00000834●●●●●●
214. 69881986 c.791C>T p.P264L missense 0.00000835●●●●●●
215. 69881989 c.794T>C p.L265P missense 0.00000835●●●●●●
216. 69882000 c.805C>T p.P269S missense 0.00000835●●●●●●
217. 69882009 c.814A>G p.T272A missense 0.00000834●●●●●●
218. 69882021 c.826C>T p.R276W missense 0.00002501●●●●●●
219. 69882022 c.827G>A p.R276Q missense 0.00001666●●●●●●
220. 69882027 c.832A>G p.R278G missense 0.00000833●●●●●●
221. 69882033 c.838G>C p.V280L missense 0.00000833●●●●●●
222. 69882060 c.865G>T p.D289Y missense 0.00000836●●●●●●
223. 69882066 c.871A>C p.I291L missense 0.00000836●●●●●●
224. 69902702 c.908A>G p.Y303C missense 0.00000824●●●●●●
225. 69902708 c.914A>G p.E305G missense 0.00000824●●●●●●
226. 69902711 c.917G>A p.G306D missense 0.00000824●●●●●●
227. 69902719 c.925C>T p.L309F missense 0.00000824●●●●●●
228. 69902734 c.940G>C p.D314H missense 0.00000824●●●●●●
229. 69902737 c.943A>G p.I315V missense 0.00002471●●●●●●
230. 69902737 c.943A>C p.I315L missense 0.00000824●●●●●●
231. 69902743 c.949A>G p.I317V missense 0.00001648●●●●●●
232. 69902778 c.984T>G p.I328M missense 0.00000824●●●●●●
233. 69902796 c.1002G>C p.E334D missense 0.00000824●●●●●●
234. 69902813 c.1019C>G p.S340C missense 0.00001649●●●●●●
235. 69902825 c.1031C>T p.S344F missense 0.00001650●●●●●●
236. 69902827 c.1033A>G p.N345D missense 0.00000825●●●●●●
237. 69902840 c.1046C>G p.T349R missense 0.00000827●●●●●●
238. 69902840 c.1046C>A p.T349K missense 0.00035545●●●●●●
239. 69902840 c.1046C>T p.T349I missense 0.00001653●●●●●●
240. 69902846 c.1052C>T p.S351L missense 0.00013238●●●●●●
241. 69905234 c.1081G>C p.V361L missense 0.00004953●●●●●●
242. 69905234 c.1081G>T p.V361F missense 0.00000825●●●●●●
243. 69905240 c.1087T>G p.S363A missense 0.00000825●●●●●●
244. 69905241 c.1088C>T p.S363F missense 0.00003300●●●●●●
245. 69905258 c.1105G>A p.D369N missense 0.00002474●●●●●●
246. 69905262 c.1109C>T p.P370L missense 0.00001649●●●●●●
247. 69905265 c.1112A>G p.N371S missense 0.00001649●●●●●●
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491. 69905286 c.1130+3A>C splice site 0.00001649●●●●●●
492. 69905291 c.1130+8T>C splice site 0.00001649●●●●●●
493. 69908228 c.1245+4C>T splice site 0.00000824●●●●●●
494. 69909875 c.1317+7A>C splice site 0.00003309●●●●●●
495. 69918239 c.1318-4A>G splice site 0.00000829●●●●●●
496. 69918390 c.1459+6T>C splice site 0.00001021●●●●●●
497. 69921508 c.1482A>T splice site 0.00000836●●●●●●
498. 69921515 c.1483+6G>C splice site 0.00006725●●●●●●
499. 69925452 c.1484-7C>T splice site 0.00000825●●●●●●
500. 69925453 c.1484-6A>G splice site 0.00000825●●●●●●
501. 69926048 c.1601-3C>T splice site 0.00000826●●●●●●
502. 69954277 c.3075+8C>T splice site 0.00000838●●●●●●
503. 69955295 c.3158+6G>T splice site 0.00000825●●●●●●
504. 69955297 c.3158+8C>G splice site 0.00000825●●●●●●
505. 69957104 c.3159-5T>C splice site 0.00004955●●●●●●
506. 69957105 c.3159-4A>T splice site 0.00000826●●●●●●
507. 69957106 c.3159-3T>C splice site 0.00001651●●●●●●
508. 69961579 c.3494-7T>C splice site 0.00000835●●●●●●
509. 69961580 c.3494-6G>A splice site 0.00000835●●●●●●
510. 69961580 c.3494-6G>T splice site 0.00000835●●●●●●
511. 69966667 c.3793+7G>C splice site 0.00000825●●●●●●
512. 69966667 c.3793+7G>A splice site 0.00000825●●●●●●
513. 69970035 c.3794-8T>C splice site 0.00001648●●●●●●
514. 69902873 c.1078+1G>A essential splice site 0.00004156●●●●●●
515. 69909869 c.1317+1G>A essential splice site 0.00000826●●●●●●
516. 69935078 c.2565-2A>G essential splice site 0.00000825●●●●●●
517. 69955290 c.3158+1G>A essential splice site 0.00000825●●●●●●
518. 69959181 c.3342_3343delAC p.P1115Rfs*19 frameshift 0.00000824●●●●●●
519. 69881786 c.591_592delCA p.Ser198PhefsTer24 frameshift 0.00000825●●●●●●
520. 69926267 c.1817delA p.Asp606AlafsTer13 frameshift 0.00000824●●●●●●
521. 69934150 c.2301delC p.Ser769LeufsTer92 frameshift 0.00001648●●●●●●
522. 69881820 c.625_627delTCT p.Ser209del inframe 0.00000824●●●●●●
523. 69902852 c.1058_1060delCTG p.Ala354del inframe 0.00000828●●●●●●

* 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.