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. 69955261 c.3130C>T p.R1044W missense 0.00004946●●●●●●
80. 69902806 c.1012C>T p.R338C 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. 69957195 c.3245T>C p.M1082T missense 0.00004121●●●●●●
89. 69926308 c.1858A>G p.T620A missense 0.00004121●●●●●●
90. 69908208 c.1229T>C p.V410A missense 0.00004120●●●●●●
91. 69966630 c.3763G>A p.V1255M missense 0.00004119●●●●●●
92. 69902780 c.986C>T p.A329V 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. 69881275 c.80G>C p.R27P missense 0.00003300●●●●●●
102. 69905241 c.1088C>T p.S363F missense 0.00003300●●●●●●
103. 69881503 c.308A>T p.D103V missense 0.00003300●●●●●●
104. 69881274 c.79C>G p.R27G missense 0.00003300●●●●●●
105. 69957120 c.3170G>A p.R1057Q missense 0.00003299●●●●●●
106. 69905256 c.1103G>A p.G368D missense 0.00003299●●●●●●
107. 69881380 c.185A>C p.D62A missense 0.00003299●●●●●●
108. 69926167 c.1717C>A p.P573T missense 0.00003298●●●●●●
109. 69926216 c.1766G>A p.R589Q missense 0.00003297●●●●●●
110. 69934277 c.2428C>T p.R810C missense 0.00003296●●●●●●
111. 69908205 c.1226G>A p.R409H missense 0.00003296●●●●●●
112. 69935157 c.2642A>T p.N881I missense 0.00003296●●●●●●
113. 69970162 c.3913A>G p.M1305V missense 0.00003295●●●●●●
114. 69970097 c.3848G>A p.R1283H missense 0.00003295●●●●●●
115. 69934032 c.2183C>A p.P728H missense 0.00003295●●●●●●
116. 69933954 c.2105C>T p.A702V missense 0.00003295●●●●●●
117. 69933909 c.2060A>C p.E687A 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. 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. 69955236 c.3105G>A p.M1035I missense 0.00002473●●●●●●
136. 69955256 c.3125G>A p.R1042H missense 0.00002473●●●●●●
137. 69926213 c.1763C>T p.P588L missense 0.00002473●●●●●●
138. 69881812 c.617G>A p.R206Q missense 0.00002473●●●●●●
139. 69926326 c.1876G>A p.D626N missense 0.00002473●●●●●●
140. 69955267 c.3136A>C p.T1046P missense 0.00002473●●●●●●
141. 69908210 c.1231G>A p.A411T missense 0.00002472●●●●●●
142. 69934364 c.2515G>A p.A839T missense 0.00002472●●●●●●
143. 69934217 c.2368A>G p.T790A missense 0.00002472●●●●●●
144. 69970160 c.3911C>T p.T1304M missense 0.00002471●●●●●●
145. 69970208 c.3959T>C p.L1320P missense 0.00002471●●●●●●
146. 69934038 c.2189C>T p.T730M missense 0.00002471●●●●●●
147. 69934005 c.2156G>C p.S719T missense 0.00002471●●●●●●
148. 69970184 c.3935G>A p.R1312Q missense 0.00002471●●●●●●
149. 69902737 c.943A>G p.I315V 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. 69882022 c.827G>A p.R276Q missense 0.00001666●●●●●●
154. 69881943 c.748A>C p.T250P missense 0.00001666●●●●●●
155. 69948714 c.2756G>T p.R919L 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. 69918271 c.1346G>T p.G449V missense 0.00001652●●●●●●
164. 69881707 c.512A>G p.K171R missense 0.00001652●●●●●●
165. 69881599 c.404C>G p.A135G missense 0.00001652●●●●●●
166. 69957106 c.3159-3T>C splice site 0.00001651●●●●●●
167. 69957227 c.3277G>A p.D1093N missense 0.00001650●●●●●●
168. 69957116 c.3166T>A p.S1056T missense 0.00001650●●●●●●
169. 69881878 c.683T>C p.L228P missense 0.00001650●●●●●●
170. 69902825 c.1031C>T p.S344F missense 0.00001650●●●●●●
171. 69935084 c.2569T>A p.S857T missense 0.00001650●●●●●●
172. 69881316 c.121C>G p.P41A missense 0.00001650●●●●●●
173. 69881301 c.106G>C p.E36Q missense 0.00001650●●●●●●
174. 69902807 c.1013G>A p.R338H missense 0.00001649●●●●●●
175. 69905265 c.1112A>G p.N371S missense 0.00001649●●●●●●
176. 69926215 c.1765C>T p.R589W missense 0.00001649●●●●●●
177. 69902813 c.1019C>G p.S340C missense 0.00001649●●●●●●
178. 69905291 c.1130+8T>C splice site 0.00001649●●●●●●
179. 69926074 c.1624G>A p.G542R missense 0.00001649●●●●●●
180. 69881470 c.275A>G p.D92G missense 0.00001649●●●●●●
181. 69948821 c.2863C>G p.R955G missense 0.00001649●●●●●●
182. 69909832 c.1281T>G p.D427E missense 0.00001649●●●●●●
183. 69881857 c.662A>G p.D221G missense 0.00001649●●●●●●
184. 69905262 c.1109C>T p.P370L missense 0.00001649●●●●●●
185. 69905286 c.1130+3A>C splice site 0.00001649●●●●●●
186. 69933834 c.1985A>C p.Q662P missense 0.00001648●●●●●●
187. 69908138 c.1159C>T p.P387S missense 0.00001648●●●●●●
188. 69957156 c.3206G>A p.R1069H missense 0.00001648●●●●●●
189. 69934150 c.2301delC p.Ser769LeufsTer92 frameshift 0.00001648●●●●●●
190. 69935198 c.2683G>T p.D895Y missense 0.00001648●●●●●●
191. 69959254 c.3415C>T p.R1139C missense 0.00001648●●●●●●
192. 69957168 c.3218C>A p.P1073Q missense 0.00001648●●●●●●
193. 69935144 c.2629C>T p.R877C missense 0.00001648●●●●●●
194. 69935145 c.2630G>A p.R877H missense 0.00001648●●●●●●
195. 69902743 c.949A>G p.I317V missense 0.00001648●●●●●●
196. 69934314 c.2465G>A p.R822Q missense 0.00001648●●●●●●
197. 69934238 c.2389T>C p.F797L missense 0.00001648●●●●●●
198. 69959281 c.3442G>A p.A1148T missense 0.00001648●●●●●●
199. 69926221 c.1771A>G p.S591G missense 0.00001648●●●●●●
200. 69926099 c.1649C>T p.T550I missense 0.00001648●●●●●●
201. 69908175 c.1196C>T p.P399L missense 0.00001648●●●●●●
202. 69970073 c.3824T>C p.M1275T missense 0.00001648●●●●●●
203. 69970035 c.3794-8T>C splice site 0.00001648●●●●●●
204. 69935145 c.2630G>T p.R877L missense 0.00001648●●●●●●
205. 69935169 c.2654G>A p.R885Q missense 0.00001648●●●●●●
206. 69970045 c.3796C>T p.Q1266X nonsense 0.00001648●●●●●●
207. 69957155 c.3205C>T p.R1069C missense 0.00001648●●●●●●
208. 69926257 c.1807C>A p.P603T missense 0.00001648●●●●●●
209. 69934008 c.2159T>G p.L720W missense 0.00001647●●●●●●
210. 69970172 c.3923C>T p.S1308L missense 0.00001647●●●●●●
211. 69970102 c.3853G>A p.G1285R missense 0.00001647●●●●●●
212. 69934077 c.2228C>A p.P743Q missense 0.00001647●●●●●●
213. 69933963 c.2114C>T p.T705I missense 0.00001647●●●●●●
214. 69970103 c.3854G>A p.G1285E missense 0.00001647●●●●●●
215. 69933900 c.2051C>G p.S684C 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. 69926395 c.1945C>A p.P649T missense 0.00000839●●●●●●
221. 69926394 c.1944G>C p.E648D missense 0.00000839●●●●●●
222. 69954277 c.3075+8C>T splice site 0.00000838●●●●●●
223. 69882085 c.890C>T p.P297L missense 0.00000838●●●●●●
224. 69918354 c.1429G>C p.D477H missense 0.00000838●●●●●●
225. 69926390 c.1940A>T p.K647I missense 0.00000837●●●●●●
226. 69948705 c.2747T>C p.I916T missense 0.00000837●●●●●●
227. 69882060 c.865G>T p.D289Y missense 0.00000836●●●●●●
228. 69921508 c.1482A>T splice site 0.00000836●●●●●●
229. 69882066 c.871A>C p.I291L missense 0.00000836●●●●●●
230. 69881986 c.791C>T p.P264L missense 0.00000835●●●●●●
231. 69961579 c.3494-7T>C splice site 0.00000835●●●●●●
232. 69882048 c.853C>T p.R285X nonsense 0.00000835●●●●●●
233. 69881989 c.794T>C p.L265P missense 0.00000835●●●●●●
234. 69961580 c.3494-6G>A splice site 0.00000835●●●●●●
235. 69881195 c.-1C>A splice site 0.00000835●●●●●●
236. 69882000 c.805C>T p.P269S missense 0.00000835●●●●●●
237. 69961580 c.3494-6G>T splice site 0.00000835●●●●●●
238. 69882051 c.856G>A p.V286I missense 0.00000835●●●●●●
239. 69882000 c.805C>G p.P269A 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. 69882037 c.842C>A p.P281Q missense 0.00000833●●●●●●
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493. 69970054 c.3805C>G p.H1269D missense 0.00000824●●●●●●
494. 69908126 c.1147G>A p.E383K missense 0.00000824●●●●●●
495. 69934235 c.2386C>T p.P796S missense 0.00000824●●●●●●
496. 69902711 c.917G>A p.G306D missense 0.00000824●●●●●●
497. 69966535 c.3668A>G p.Q1223R missense 0.00000824●●●●●●
498. 69934161 c.2312A>G p.Q771R missense 0.00000824●●●●●●
499. 69926140 c.1690C>G p.H564D missense 0.00000824●●●●●●
500. 69955216 c.3085A>G p.S1029G missense 0.00000824●●●●●●
501. 69926102 c.1652C>T p.T551I missense 0.00000824●●●●●●
502. 69959197 c.3358A>C p.K1120Q missense 0.00000824●●●●●●
503. 69934387 c.2538G>A p.M846I missense 0.00000824●●●●●●
504. 69934037 c.2188A>G p.T730A missense 0.00000824●●●●●●
505. 69926267 c.1817delA p.Asp606AlafsTer13 frameshift 0.00000824●●●●●●
506. 69908141 c.1162C>T p.P388S missense 0.00000824●●●●●●
507. 69970184 c.3935G>C p.R1312P missense 0.00000824●●●●●●
508. 69959230 c.3391C>G p.L1131V missense 0.00000824●●●●●●
509. 69933864 c.2015T>C p.L672P missense 0.00000824●●●●●●
510. 69935180 c.2665A>G p.K889E missense 0.00000824●●●●●●
511. 69881797 c.602A>C p.D201A missense 0.00000824●●●●●●
512. 69970124 c.3875T>C p.L1292P missense 0.00000824●●●●●●
513. 69935210 c.2695A>C p.N899H missense 0.00000824●●●●●●
514. 69908199 c.1220A>G p.Q407R missense 0.00000824●●●●●●
515. 69902737 c.943A>C p.I315L missense 0.00000824●●●●●●
516. 69966605 c.3738G>T p.L1246F missense 0.00000824●●●●●●
517. 69934200 c.2351C>G p.P784R missense 0.00000824●●●●●●
518. 69955259 c.3128G>T p.S1043I missense 0.00000824●●●●●●
519. 69902796 c.1002G>C p.E334D missense 0.00000824●●●●●●
520. 69933820 c.1974-3C>T splice site 0.00000824●●●●●●
521. 69934362 c.2513C>G p.P838R missense 0.00000824●●●●●●
522. 69934269 c.2420T>C p.F807S missense 0.00000824●●●●●●
523. 69934136 c.2287C>G p.L763V 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.