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. 69902806 c.1012C>T p.R338C missense 0.00004946●●●●●●
80. 69955261 c.3130C>T p.R1044W missense 0.00004946●●●●●●
81. 69935118 c.2603C>T p.P868L 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. 69957212 c.3262C>T p.R1088C missense 0.00004124●●●●●●
86. 69905249 c.1096T>C p.S366P 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. 69934356 c.2507C>T p.S836F missense 0.00004119●●●●●●
93. 69966630 c.3763G>A p.V1255M 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. 69881274 c.79C>G p.R27G missense 0.00003300●●●●●●
101. 69881275 c.80G>C p.R27P missense 0.00003300●●●●●●
102. 69881503 c.308A>T p.D103V missense 0.00003300●●●●●●
103. 69905241 c.1088C>T p.S363F missense 0.00003300●●●●●●
104. 69959153 c.3314C>T p.T1105I missense 0.00003300●●●●●●
105. 69957120 c.3170G>A p.R1057Q missense 0.00003299●●●●●●
106. 69881380 c.185A>C p.D62A missense 0.00003299●●●●●●
107. 69905256 c.1103G>A p.G368D missense 0.00003299●●●●●●
108. 69926167 c.1717C>A p.P573T missense 0.00003298●●●●●●
109. 69926216 c.1766G>A p.R589Q missense 0.00003297●●●●●●
110. 69935157 c.2642A>T p.N881I missense 0.00003296●●●●●●
111. 69908205 c.1226G>A p.R409H missense 0.00003296●●●●●●
112. 69934277 c.2428C>T p.R810C missense 0.00003296●●●●●●
113. 69933954 c.2105C>T p.A702V missense 0.00003295●●●●●●
114. 69970097 c.3848G>A p.R1283H missense 0.00003295●●●●●●
115. 69933909 c.2060A>C p.E687A missense 0.00003295●●●●●●
116. 69934032 c.2183C>A p.P728H missense 0.00003295●●●●●●
117. 69970162 c.3913A>G p.M1305V 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. 69948882 c.2924A>C p.K975T missense 0.00002492●●●●●●
123. 69954234 c.3040G>A p.D1014N 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. 69948761 c.2803G>A p.D935N missense 0.00002477●●●●●●
129. 69961720 c.3628G>A p.E1210K missense 0.00002477●●●●●●
130. 69957111 c.3161G>A p.G1054E missense 0.00002476●●●●●●
131. 69966660 c.3793G>A p.A1265T missense 0.00002475●●●●●●
132. 69926166 c.1716A>C p.Q572H missense 0.00002474●●●●●●
133. 69905258 c.1105G>A p.D369N missense 0.00002474●●●●●●
134. 69948813 c.2855A>G p.K952R missense 0.00002474●●●●●●
135. 69955256 c.3125G>A p.R1042H missense 0.00002473●●●●●●
136. 69926213 c.1763C>T p.P588L missense 0.00002473●●●●●●
137. 69955267 c.3136A>C p.T1046P missense 0.00002473●●●●●●
138. 69881812 c.617G>A p.R206Q missense 0.00002473●●●●●●
139. 69926326 c.1876G>A p.D626N missense 0.00002473●●●●●●
140. 69955236 c.3105G>A p.M1035I missense 0.00002473●●●●●●
141. 69908210 c.1231G>A p.A411T missense 0.00002472●●●●●●
142. 69934217 c.2368A>G p.T790A missense 0.00002472●●●●●●
143. 69934364 c.2515G>A p.A839T missense 0.00002472●●●●●●
144. 69970208 c.3959T>C p.L1320P missense 0.00002471●●●●●●
145. 69934038 c.2189C>T p.T730M missense 0.00002471●●●●●●
146. 69902737 c.943A>G p.I315V missense 0.00002471●●●●●●
147. 69934005 c.2156G>C p.S719T missense 0.00002471●●●●●●
148. 69970160 c.3911C>T p.T1304M missense 0.00002471●●●●●●
149. 69970184 c.3935G>A p.R1312Q missense 0.00002471●●●●●●
150. 69970193 c.3944T>C p.V1315A 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. 69881943 c.748A>C p.T250P missense 0.00001666●●●●●●
155. 69882022 c.827G>A p.R276Q 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. 69881599 c.404C>G p.A135G missense 0.00001652●●●●●●
164. 69918271 c.1346G>T p.G449V missense 0.00001652●●●●●●
165. 69881707 c.512A>G p.K171R missense 0.00001652●●●●●●
166. 69957106 c.3159-3T>C splice site 0.00001651●●●●●●
167. 69881878 c.683T>C p.L228P missense 0.00001650●●●●●●
168. 69881301 c.106G>C p.E36Q missense 0.00001650●●●●●●
169. 69881316 c.121C>G p.P41A missense 0.00001650●●●●●●
170. 69902825 c.1031C>T p.S344F missense 0.00001650●●●●●●
171. 69935084 c.2569T>A p.S857T missense 0.00001650●●●●●●
172. 69957116 c.3166T>A p.S1056T missense 0.00001650●●●●●●
173. 69957227 c.3277G>A p.D1093N missense 0.00001650●●●●●●
174. 69902807 c.1013G>A p.R338H missense 0.00001649●●●●●●
175. 69926215 c.1765C>T p.R589W missense 0.00001649●●●●●●
176. 69881470 c.275A>G p.D92G missense 0.00001649●●●●●●
177. 69881857 c.662A>G p.D221G missense 0.00001649●●●●●●
178. 69902813 c.1019C>G p.S340C missense 0.00001649●●●●●●
179. 69905262 c.1109C>T p.P370L missense 0.00001649●●●●●●
180. 69905265 c.1112A>G p.N371S missense 0.00001649●●●●●●
181. 69909832 c.1281T>G p.D427E missense 0.00001649●●●●●●
182. 69926074 c.1624G>A p.G542R missense 0.00001649●●●●●●
183. 69948821 c.2863C>G p.R955G missense 0.00001649●●●●●●
184. 69905286 c.1130+3A>C splice site 0.00001649●●●●●●
185. 69905291 c.1130+8T>C splice site 0.00001649●●●●●●
186. 69908175 c.1196C>T p.P399L missense 0.00001648●●●●●●
187. 69959254 c.3415C>T p.R1139C missense 0.00001648●●●●●●
188. 69934314 c.2465G>A p.R822Q missense 0.00001648●●●●●●
189. 69935145 c.2630G>A p.R877H missense 0.00001648●●●●●●
190. 69935169 c.2654G>A p.R885Q missense 0.00001648●●●●●●
191. 69970073 c.3824T>C p.M1275T missense 0.00001648●●●●●●
192. 69935198 c.2683G>T p.D895Y missense 0.00001648●●●●●●
193. 69902743 c.949A>G p.I317V missense 0.00001648●●●●●●
194. 69908138 c.1159C>T p.P387S missense 0.00001648●●●●●●
195. 69926099 c.1649C>T p.T550I missense 0.00001648●●●●●●
196. 69926221 c.1771A>G p.S591G missense 0.00001648●●●●●●
197. 69926257 c.1807C>A p.P603T missense 0.00001648●●●●●●
198. 69933834 c.1985A>C p.Q662P missense 0.00001648●●●●●●
199. 69934238 c.2389T>C p.F797L missense 0.00001648●●●●●●
200. 69935144 c.2629C>T p.R877C missense 0.00001648●●●●●●
201. 69935145 c.2630G>T p.R877L missense 0.00001648●●●●●●
202. 69957155 c.3205C>T p.R1069C missense 0.00001648●●●●●●
203. 69957156 c.3206G>A p.R1069H missense 0.00001648●●●●●●
204. 69957168 c.3218C>A p.P1073Q missense 0.00001648●●●●●●
205. 69959281 c.3442G>A p.A1148T missense 0.00001648●●●●●●
206. 69970045 c.3796C>T p.Q1266X nonsense 0.00001648●●●●●●
207. 69934150 c.2301delC p.Ser769LeufsTer92 frameshift 0.00001648●●●●●●
208. 69970035 c.3794-8T>C splice site 0.00001648●●●●●●
209. 69933900 c.2051C>G p.S684C missense 0.00001647●●●●●●
210. 69933963 c.2114C>T p.T705I missense 0.00001647●●●●●●
211. 69934008 c.2159T>G p.L720W missense 0.00001647●●●●●●
212. 69934077 c.2228C>A p.P743Q missense 0.00001647●●●●●●
213. 69970102 c.3853G>A p.G1285R missense 0.00001647●●●●●●
214. 69970103 c.3854G>A p.G1285E missense 0.00001647●●●●●●
215. 69970172 c.3923C>T p.S1308L 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. 69948705 c.2747T>C p.I916T missense 0.00000837●●●●●●
226. 69926390 c.1940A>T p.K647I missense 0.00000837●●●●●●
227. 69882060 c.865G>T p.D289Y missense 0.00000836●●●●●●
228. 69882066 c.871A>C p.I291L missense 0.00000836●●●●●●
229. 69921508 c.1482A>T splice site 0.00000836●●●●●●
230. 69882051 c.856G>A p.V286I missense 0.00000835●●●●●●
231. 69882000 c.805C>G p.P269A missense 0.00000835●●●●●●
232. 69881986 c.791C>T p.P264L missense 0.00000835●●●●●●
233. 69881989 c.794T>C p.L265P missense 0.00000835●●●●●●
234. 69882000 c.805C>T p.P269S missense 0.00000835●●●●●●
235. 69882048 c.853C>T p.R285X nonsense 0.00000835●●●●●●
236. 69881195 c.-1C>A splice site 0.00000835●●●●●●
237. 69961579 c.3494-7T>C splice site 0.00000835●●●●●●
238. 69961580 c.3494-6G>A splice site 0.00000835●●●●●●
239. 69961580 c.3494-6G>T splice site 0.00000835●●●●●●
240. 69881971 c.776T>A p.L259Q missense 0.00000834●●●●●●
241. 69881946 c.751A>G p.T251A missense 0.00000834●●●●●●
242. 69881950 c.755C>T p.P252L missense 0.00000834●●●●●●
243. 69881953 c.758G>T p.G253V missense 0.00000834●●●●●●
244. 69882009 c.814A>G p.T272A missense 0.00000834●●●●●●
245. 69882037 c.842C>A p.P281Q missense 0.00000833●●●●●●
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494. 69959214 c.3375G>T p.E1125D missense 0.00000824●●●●●●
495. 69959225 c.3386A>G p.H1129R missense 0.00000824●●●●●●
496. 69959230 c.3391C>G p.L1131V missense 0.00000824●●●●●●
497. 69959233 c.3394C>T p.L1132F missense 0.00000824●●●●●●
498. 69959294 c.3455C>T p.T1152I missense 0.00000824●●●●●●
499. 69959296 c.3457G>A p.G1153R missense 0.00000824●●●●●●
500. 69966532 c.3665A>G p.H1222R missense 0.00000824●●●●●●
501. 69966535 c.3668A>G p.Q1223R missense 0.00000824●●●●●●
502. 69966564 c.3697A>T p.I1233F missense 0.00000824●●●●●●
503. 69966571 c.3704C>T p.P1235L missense 0.00000824●●●●●●
504. 69966585 c.3718G>A p.D1240N missense 0.00000824●●●●●●
505. 69966605 c.3738G>T p.L1246F missense 0.00000824●●●●●●
506. 69966613 c.3746A>G p.K1249R missense 0.00000824●●●●●●
507. 69970048 c.3799T>C p.W1267R missense 0.00000824●●●●●●
508. 69970052 c.3803A>G p.H1268R missense 0.00000824●●●●●●
509. 69970054 c.3805C>G p.H1269D missense 0.00000824●●●●●●
510. 69970096 c.3847C>T p.R1283C missense 0.00000824●●●●●●
511. 69970124 c.3875T>C p.L1292P missense 0.00000824●●●●●●
512. 69970145 c.3896C>T p.S1299F missense 0.00000824●●●●●●
513. 69970150 c.3901A>G p.M1301V missense 0.00000824●●●●●●
514. 69970151 c.3902T>C p.M1301T missense 0.00000824●●●●●●
515. 69970163 c.3914T>C p.M1305T missense 0.00000824●●●●●●
516. 69970165 c.3916G>A p.V1306M missense 0.00000824●●●●●●
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. 69970204 c.3955G>T p.E1319X nonsense 0.00000824●●●●●●
521. 69881820 c.625_627delTCT p.Ser209del inframe 0.00000824●●●●●●
522. 69926267 c.1817delA p.Asp606AlafsTer13 frameshift 0.00000824●●●●●●
523. 69908228 c.1245+4C>T splice site 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.