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. 69881195 c.-1C>A splice site 0.00000835●●●●●●
2. 69881205 c.10G>A p.D4N missense 0.00000830●●●●●●
3. 69881211 c.16A>T p.I6L missense 0.00001658●●●●●●
4. 69881212 c.17T>C p.I6T missense 0.00000829●●●●●●
5. 69881232 c.37T>A p.S13T missense 0.00000827●●●●●●
6. 69881233 c.38C>G p.S13C missense 0.00000827●●●●●●
7. 69881245 c.50G>A p.R17K missense 0.00000826●●●●●●
8. 69881252 c.57C>G p.S19R missense 0.00000826●●●●●●
9. 69881254 c.59A>G p.Y20C missense 0.00091633●●●●●●
10. 69881260 c.65C>G p.A22G missense 0.00019809●●●●●●
11. 69881274 c.79C>G p.R27G missense 0.00003300●●●●●●
12. 69881275 c.80G>A p.R27Q missense 0.00000825●●●●●●
13. 69881275 c.80G>C p.R27P missense 0.00003300●●●●●●
14. 69881277 c.82G>C p.G28R missense 0.00000825●●●●●●
15. 69881287 c.92A>C p.E31A missense 0.00000825●●●●●●
16. 69881295 c.100C>T p.R34X nonsense 0.00000825●●●●●●
17. 69881295 c.100C>G p.R34G missense 0.00000825●●●●●●
18. 69881299 c.104C>T p.A35V missense 0.00000825●●●●●●
19. 69881301 c.106G>C p.E36Q missense 0.00001650●●●●●●
20. 69881307 c.112T>A p.S38T missense 0.00000825●●●●●●
21. 69881308 c.113C>T p.S38F missense 0.00000825●●●●●●
22. 69881315 c.120C>A p.N40K missense 0.00000825●●●●●●
23. 69881316 c.121C>G p.P41A missense 0.00001650●●●●●●
24. 69881317 c.122C>T p.P41L missense 0.00000825●●●●●●
25. 69881323 c.128A>G p.H43R missense 0.00000825●●●●●●
26. 69881329 c.134G>T p.G45V missense 0.00000825●●●●●●
27. 69881335 c.140C>T p.P47L missense 0.00009075●●●●●●
28. 69881344 c.149C>T p.A50V missense 0.00000825●●●●●●
29. 69881361 c.166G>C p.G56R missense 0.00000825●●●●●●
30. 69881380 c.185A>C p.D62A missense 0.00003299●●●●●●
31. 69881389 c.194C>T p.A65V missense 0.00000825●●●●●●
32. 69881425 c.230A>G p.N77S missense 0.00000825●●●●●●
33. 69881446 c.251A>G p.N84S missense 0.00000825●●●●●●
34. 69881451 c.256G>C p.D86H missense 0.00000825●●●●●●
35. 69881454 c.259C>G p.P87A missense 0.00004123●●●●●●
36. 69881459 c.264G>C p.L88F missense 0.00000825●●●●●●
37. 69881464 c.269A>G p.K90R missense 0.00000825●●●●●●
38. 69881466 c.271G>A p.A91T missense 0.00000825●●●●●●
39. 69881470 c.275A>G p.D92G missense 0.00001649●●●●●●
40. 69881476 c.281C>G p.T94S missense 0.00000825●●●●●●
41. 69881479 c.284A>C p.Q95P missense 0.00000825●●●●●●
42. 69881490 c.295C>T p.R99X nonsense 0.00000825●●●●●●
43. 69881499 c.304C>G p.P102A missense 0.00004950●●●●●●
44. 69881503 c.308A>T p.D103V missense 0.00003300●●●●●●
45. 69881514 c.319C>T p.H107Y missense 0.00000825●●●●●●
46. 69881542 c.347A>G p.N116S missense 0.00000825●●●●●●
47. 69881558 c.363C>G p.N121K missense 0.00000826●●●●●●
48. 69881569 c.374C>T p.P125L missense 0.00000826●●●●●●
49. 69881576 c.381C>G p.S127R missense 0.00000826●●●●●●
50. 69881578 c.383C>T p.S128F missense 0.00000826●●●●●●
51. 69881587 c.392G>T p.S131I missense 0.00009911●●●●●●
52. 69881590 c.395C>T p.P132L missense 0.00014866●●●●●●
53. 69881599 c.404C>G p.A135G missense 0.00001652●●●●●●
54. 69881605 c.410G>C p.R137T missense 0.00015692●●●●●●
55. 69881606 c.411G>C p.R137S missense 0.00003304●●●●●●
56. 69881629 c.434A>G p.Q145R missense 0.00000826●●●●●●
57. 69881632 c.437C>T p.S146F missense 0.00009088●●●●●●
58. 69881650 c.455A>G p.N152S missense 0.00000826●●●●●●
59. 69881653 c.458A>C p.K153T missense 0.00000826●●●●●●
60. 69881668 c.473T>C p.I158T missense 0.00000826●●●●●●
61. 69881704 c.509C>A p.S170Y missense 0.00000826●●●●●●
62. 69881707 c.512A>G p.K171R missense 0.00001652●●●●●●
63. 69881712 c.517A>G p.I173V missense 0.00000826●●●●●●
64. 69881714 c.519T>G p.I173M missense 0.00005781●●●●●●
65. 69881721 c.526C>T p.R176C missense 0.00002478●●●●●●
66. 69881734 c.539A>C p.N180T missense 0.00000825●●●●●●
67. 69881743 c.548G>A p.S183N missense 0.00000825●●●●●●
68. 69881749 c.554T>A p.L185Q missense 0.00000825●●●●●●
69. 69881772 c.577C>A p.Q193K missense 0.00000825●●●●●●
70. 69881773 c.578A>G p.Q193R missense 0.00023916●●●●●●
71. 69881786 c.591_592delCA p.Ser198PhefsTer24 frameshift 0.00000825●●●●●●
72. 69881797 c.602A>C p.D201A missense 0.00000824●●●●●●
73. 69881798 c.603T>G p.D201E missense 0.00000824●●●●●●
74. 69881799 c.604C>A p.L202M missense 0.00000824●●●●●●
75. 69881812 c.617G>A p.R206Q missense 0.00002473●●●●●●
76. 69881820 c.625_627delTCT p.Ser209del inframe 0.00000824●●●●●●
77. 69881840 c.645C>G p.I215M missense 0.00000824●●●●●●
78. 69881845 c.650C>T p.A217V missense 0.00000824●●●●●●
79. 69881857 c.662A>T p.D221V missense 0.00018961●●●●●●
80. 69881857 c.662A>G p.D221G missense 0.00001649●●●●●●
81. 69881878 c.683T>C p.L228P missense 0.00001650●●●●●●
82. 69881880 c.685G>A p.E229K missense 0.00000825●●●●●●
83. 69881886 c.691C>A p.Q231K missense 0.00000825●●●●●●
84. 69881902 c.707G>A p.R236H missense 0.00000827●●●●●●
85. 69881907 c.712G>A p.A238T missense 0.00002484●●●●●●
86. 69881910 c.715G>C p.E239Q missense 0.00000828●●●●●●
87. 69881914 c.719A>G p.Q240R missense 0.00000829●●●●●●
88. 69881917 c.722C>G p.A241G missense 0.00000829●●●●●●
89. 69881929 c.734C>G p.A245G missense 0.00024119●●●●●●
90. 69881929 c.734C>T p.A245V missense 0.00000832●●●●●●
91. 69881931 c.736G>A p.A246T missense 0.00002494●●●●●●
92. 69881943 c.748A>C p.T250P missense 0.00001666●●●●●●
93. 69881946 c.751A>G p.T251A missense 0.00000834●●●●●●
94. 69881950 c.755C>T p.P252L missense 0.00000834●●●●●●
95. 69881952 c.757G>C p.G253R missense 0.00007504●●●●●●
96. 69881953 c.758G>T p.G253V missense 0.00000834●●●●●●
97. 69881971 c.776T>A p.L259Q missense 0.00000834●●●●●●
98. 69881977 c.782A>G p.Y261C missense 0.00010015●●●●●●
99. 69881986 c.791C>T p.P264L missense 0.00000835●●●●●●
100. 69881989 c.794T>C p.L265P missense 0.00000835●●●●●●
101. 69881997 c.802C>T p.P268S missense 0.00030066●●●●●●
102. 69882000 c.805C>G p.P269A missense 0.00000835●●●●●●
103. 69882000 c.805C>T p.P269S missense 0.00000835●●●●●●
104. 69882009 c.814A>G p.T272A missense 0.00000834●●●●●●
105. 69882021 c.826C>T p.R276W missense 0.00002501●●●●●●
106. 69882022 c.827G>A p.R276Q missense 0.00001666●●●●●●
107. 69882027 c.832A>G p.R278G missense 0.00000833●●●●●●
108. 69882033 c.838G>C p.V280L missense 0.00000833●●●●●●
109. 69882037 c.842C>A p.P281Q missense 0.00000833●●●●●●
110. 69882040 c.845A>G p.E282G missense 0.00015849●●●●●●
111. 69882048 c.853C>T p.R285X nonsense 0.00000835●●●●●●
112. 69882051 c.856G>A p.V286I missense 0.00000835●●●●●●
113. 69882060 c.865G>T p.D289Y missense 0.00000836●●●●●●
114. 69882066 c.871A>C p.I291L missense 0.00000836●●●●●●
115. 69882085 c.890C>T p.P297L missense 0.00000838●●●●●●
116. 69902702 c.908A>G p.Y303C missense 0.00000824●●●●●●
117. 69902708 c.914A>G p.E305G missense 0.00000824●●●●●●
118. 69902711 c.917G>A p.G306D missense 0.00000824●●●●●●
119. 69902719 c.925C>T p.L309F missense 0.00000824●●●●●●
120. 69902734 c.940G>C p.D314H missense 0.00000824●●●●●●
121. 69902737 c.943A>G p.I315V missense 0.00002471●●●●●●
122. 69902737 c.943A>C p.I315L missense 0.00000824●●●●●●
123. 69902743 c.949A>G p.I317V missense 0.00001648●●●●●●
124. 69902746 c.952G>A p.V318I missense 0.00016476●●●●●●
125. 69902778 c.984T>G p.I328M missense 0.00000824●●●●●●
126. 69902780 c.986C>T p.A329V missense 0.00004119●●●●●●
127. 69902796 c.1002G>C p.E334D missense 0.00000824●●●●●●
128. 69902806 c.1012C>T p.R338C missense 0.00004946●●●●●●
129. 69902807 c.1013G>A p.R338H missense 0.00001649●●●●●●
130. 69902813 c.1019C>G p.S340C missense 0.00001649●●●●●●
131. 69902825 c.1031C>T p.S344F missense 0.00001650●●●●●●
132. 69902827 c.1033A>G p.N345D missense 0.00000825●●●●●●
133. 69902834 c.1040A>G p.Y347C missense 0.00000826●●●●●●
134. 69902840 c.1046C>G p.T349R missense 0.00000827●●●●●●
135. 69902840 c.1046C>A p.T349K missense 0.00035545●●●●●●
136. 69902840 c.1046C>T p.T349I missense 0.00001653●●●●●●
137. 69902846 c.1052C>T p.S351L missense 0.00013238●●●●●●
138. 69902852 c.1058_1060delCTG p.Ala354del inframe 0.00000828●●●●●●
139. 69902873 c.1078+1G>A essential splice site 0.00004156●●●●●●
140. 69905224 c.1079-8T>C splice site 0.00000828●●●●●●
141. 69905234 c.1081G>C p.V361L missense 0.00004953●●●●●●
142. 69905234 c.1081G>T p.V361F missense 0.00000825●●●●●●
143. 69905240 c.1087T>G p.S363A missense 0.00000825●●●●●●
144. 69905241 c.1088C>T p.S363F missense 0.00003300●●●●●●
145. 69905249 c.1096T>C p.S366P missense 0.00004124●●●●●●
146. 69905256 c.1103G>A p.G368D missense 0.00003299●●●●●●
147. 69905258 c.1105G>A p.D369N missense 0.00002474●●●●●●
148. 69905262 c.1109C>T p.P370L missense 0.00001649●●●●●●
149. 69905265 c.1112A>G p.N371S missense 0.00001649●●●●●●
150. 69905274 c.1121A>G p.E374G missense 0.00000825●●●●●●
151. 69905277 c.1124T>C p.M375T missense 0.00000825●●●●●●
152. 69905282 c.1129C>T p.R377X nonsense 0.00000825●●●●●●
153. 69905283 c.1130G>A p.R377Q missense 0.00048650●●●●●●
154. 69905286 c.1130+3A>C splice site 0.00001649●●●●●●
155. 69905291 c.1130+8T>A splice site 0.00000825●●●●●●
156. 69905291 c.1130+8T>C splice site 0.00001649●●●●●●
157. 69908101 c.1131-9A>C splice site 0.00000833●●●●●●
158. 69908126 c.1147G>A p.E383K missense 0.00000824●●●●●●
159. 69908138 c.1159C>T p.P387S missense 0.00001648●●●●●●
160. 69908141 c.1162C>T p.P388S missense 0.00000824●●●●●●
161. 69908157 c.1178T>C p.V393A missense 0.04523660●●●●●●
162. 69908169 c.1190C>G p.A397G missense 0.00000824●●●●●●
163. 69908175 c.1196C>T p.P399L missense 0.00001648●●●●●●
164. 69908178 c.1199A>G p.Q400R missense 0.00000824●●●●●●
165. 69908187 c.1208A>T p.H403L missense 0.00000824●●●●●●
166. 69908196 c.1217C>T p.A406V missense 0.00024718●●●●●●
167. 69908199 c.1220A>G p.Q407R missense 0.00000824●●●●●●
168. 69908205 c.1226G>A p.R409H missense 0.00003296●●●●●●
169. 69908208 c.1229T>C p.V410A missense 0.00004120●●●●●●
170. 69908210 c.1231G>A p.A411T missense 0.00002472●●●●●●
171. 69908228 c.1245+4C>T splice site 0.00000824●●●●●●
172. 69909797 c.1246T>C p.C416R missense 0.00000824●●●●●●
173. 69909798 c.1247G>A p.C416Y missense 0.00000824●●●●●●
174. 69909824 c.1273G>A p.G425R missense 0.00000824●●●●●●
175. 69909832 c.1281T>G p.D427E missense 0.00001649●●●●●●
176. 69909869 c.1317+1G>A essential splice site 0.00000826●●●●●●
177. 69909875 c.1317+7A>C splice site 0.00003309●●●●●●
178. 69918239 c.1318-4A>G splice site 0.00000829●●●●●●
179. 69918247 c.1322T>C p.L441P missense 0.00000828●●●●●●
180. 69918271 c.1346G>T p.G449V missense 0.00001652●●●●●●
181. 69918295 c.1370G>T p.R457I missense 0.00000825●●●●●●
182. 69918297 c.1372G>A p.V458I missense 0.00000825●●●●●●
183. 69918324 c.1399G>A p.E467K missense 0.01369693●●●●●●
184. 69918349 c.1424T>C p.I475T missense 0.00000833●●●●●●
185. 69918354 c.1429G>C p.D477H missense 0.00000838●●●●●●
186. 69918360 c.1435C>A p.P479T missense 0.00002524●●●●●●
187. 69918361 c.1436C>G p.P479R missense 0.00000843●●●●●●
188. 69918370 c.1445G>A p.R482K missense 0.00006909●●●●●●
189. 69918377 c.1452A>C p.L484F missense 0.00000893●●●●●●
190. 69918390 c.1459+6T>C splice site 0.00001021●●●●●●
191. 69921492 c.1466G>A p.R489Q missense 0.00008314●●●●●●
192. 69921495 c.1469C>G p.S490C missense 0.00001663●●●●●●
193. 69921501 c.1475C>T p.A492V missense 0.00004164●●●●●●
194. 69921508 c.1482A>T splice site 0.00000836●●●●●●
195. 69921515 c.1483+6G>C splice site 0.00006725●●●●●●
196. 69925452 c.1484-7C>T splice site 0.00000825●●●●●●
197. 69925453 c.1484-6A>G splice site 0.00000825●●●●●●
198. 69925470 c.1495A>G p.T499A missense 0.00000825●●●●●●
199. 69925479 c.1504A>G p.I502V missense 0.00000825●●●●●●
200. 69925486 c.1511A>G p.E504G missense 0.00000826●●●●●●
201. 69925493 c.1518T>G p.F506L missense 0.00003305●●●●●●
202. 69925530 c.1555A>G p.N519D missense 0.00000829●●●●●●
203. 69925540 c.1565G>A p.G522D missense 0.00000830●●●●●●
204. 69925546 c.1571T>A p.V524E missense 0.00000830●●●●●●
205. 69925555 c.1580T>C p.I527T missense 0.00000830●●●●●●
206. 69925569 c.1594G>A p.V532M missense 0.00000831●●●●●●
207. 69925573 c.1598G>C p.R533T missense 0.00000831●●●●●●
208. 69926048 c.1601-3C>T splice site 0.00000826●●●●●●
209. 69926059 c.1609G>T p.D537Y missense 0.00000825●●●●●●
210. 69926072 c.1622A>T p.N541I missense 0.00000825●●●●●●
211. 69926074 c.1624G>A p.G542R missense 0.00001649●●●●●●
212. 69926099 c.1649C>T p.T550I missense 0.00001648●●●●●●
213. 69926102 c.1652C>T p.T551I missense 0.00000824●●●●●●
214. 69926105 c.1655A>G p.N552S missense 0.00000824●●●●●●
215. 69926107 c.1657C>A p.L553M missense 0.00000824●●●●●●
216. 69926122 c.1672C>T p.P558S missense 0.00000824●●●●●●
217. 69926140 c.1690C>G p.H564D missense 0.00000824●●●●●●
218. 69926140 c.1690C>A p.H564N missense 0.00000824●●●●●●
219. 69926150 c.1700C>G p.P567R missense 0.00000824●●●●●●
220. 69926166 c.1716A>C p.Q572H missense 0.00002474●●●●●●
221. 69926167 c.1717C>A p.P573T missense 0.00003298●●●●●●
222. 69926168 c.1718C>T p.P573L missense 0.00000825●●●●●●
223. 69926185 c.1735G>A p.E579K missense 0.00000825●●●●●●
224. 69926207 c.1757A>G p.N586S missense 0.00009891●●●●●●
225. 69926213 c.1763C>T p.P588L missense 0.00002473●●●●●●
226. 69926215 c.1765C>T p.R589W missense 0.00001649●●●●●●
227. 69926216 c.1766G>A p.R589Q missense 0.00003297●●●●●●
228. 69926221 c.1771A>G p.S591G missense 0.00001648●●●●●●
229. 69926222 c.1772G>A p.S591N missense 0.00000824●●●●●●
230. 69926236 c.1786C>T p.L596F missense 0.00000824●●●●●●
231. 69926239 c.1789C>T p.R597C missense 0.00000824●●●●●●
232. 69926240 c.1790G>A p.R597H missense 0.00044500●●●●●●
233. 69926257 c.1807C>A p.P603T missense 0.00001648●●●●●●
234. 69926267 c.1817delA p.Asp606AlafsTer13 frameshift 0.00000824●●●●●●
235. 69926276 c.1826G>A p.S609N missense 0.00000824●●●●●●
236. 69926290 c.1840G>A p.E614K missense 0.00007416●●●●●●
237. 69926308 c.1858A>G p.T620A missense 0.00004121●●●●●●
238. 69926317 c.1867A>T p.T623S missense 0.00000824●●●●●●
239. 69926326 c.1876G>A p.D626N missense 0.00002473●●●●●●
240. 69926330 c.1880C>G p.S627C missense 0.00000824●●●●●●
241. 69926334 c.1884C>G p.F628L missense 0.43825296●●●●●●
242. 69926339 c.1889A>G p.E630G missense 0.00000826●●●●●●
243. 69926345 c.1895T>G p.F632C missense 0.00000826●●●●●●
244. 69926350 c.1900G>A p.G634R missense 0.00023974●●●●●●
245. 69926362 c.1912A>C p.K638Q missense 0.00000828●●●●●●
246. 69926386 c.1936G>A p.V646M missense 0.00001669●●●●●●
247. 69926390 c.1940A>T p.K647I missense 0.00000837●●●●●●
248. 69926394 c.1944G>C p.E648D missense 0.00000839●●●●●●
249. 69926395 c.1945C>G p.P649A missense 0.00001678●●●●●●
250. 69926395 c.1945C>A p.P649T missense 0.00000839●●●●●●
251. 69926398 c.1948C>T p.P650S missense 0.00007567●●●●●●
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494. 69970052 c.3803A>G p.H1268R missense 0.00000824●●●●●●
495. 69970054 c.3805C>G p.H1269D missense 0.00000824●●●●●●
496. 69970067 c.3818C>T p.P1273L missense 0.00007414●●●●●●
497. 69970069 c.3820C>T p.P1274S missense 0.00000824●●●●●●
498. 69970073 c.3824T>C p.M1275T missense 0.00001648●●●●●●
499. 69970082 c.3833G>A p.R1278Q missense 0.00046131●●●●●●
500. 69970095 c.3846T>A p.S1282R missense 0.00051067●●●●●●
501. 69970096 c.3847C>T p.R1283C missense 0.00000824●●●●●●
502. 69970097 c.3848G>A p.R1283H missense 0.00003295●●●●●●
503. 69970102 c.3853G>A p.G1285R missense 0.00001647●●●●●●
504. 69970103 c.3854G>A p.G1285E missense 0.00001647●●●●●●
505. 69970124 c.3875T>C p.L1292P missense 0.00000824●●●●●●
506. 69970135 c.3886T>A p.S1296T missense 0.00014826●●●●●●
507. 69970145 c.3896C>T p.S1299F missense 0.00000824●●●●●●
508. 69970150 c.3901A>G p.M1301V missense 0.00000824●●●●●●
509. 69970151 c.3902T>C p.M1301T missense 0.00000824●●●●●●
510. 69970160 c.3911C>T p.T1304M missense 0.00002471●●●●●●
511. 69970162 c.3913A>G p.M1305V missense 0.00003295●●●●●●
512. 69970163 c.3914T>C p.M1305T missense 0.00000824●●●●●●
513. 69970165 c.3916G>A p.V1306M missense 0.00000824●●●●●●
514. 69970172 c.3923C>T p.S1308L missense 0.00001647●●●●●●
515. 69970183 c.3934C>T p.R1312W missense 0.00015649●●●●●●
516. 69970184 c.3935G>A p.R1312Q missense 0.00002471●●●●●●
517. 69970184 c.3935G>C p.R1312P missense 0.00000824●●●●●●
518. 69970188 c.3939T>G p.S1313R missense 0.00000824●●●●●●
519. 69970190 c.3941T>C p.V1314A missense 0.00000824●●●●●●
520. 69970193 c.3944T>C p.V1315A missense 0.00002471●●●●●●
521. 69970204 c.3955G>T p.E1319X nonsense 0.00000824●●●●●●
522. 69970208 c.3959T>C p.L1320P missense 0.00002471●●●●●●
523. 69970212 c.3963A>G nonsense 0.00014002●●●●●●

* 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.