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. 69959279 c.3440T>A p.I1147N missense 0.00007414●●●●●●
66. 69970067 c.3818C>T p.P1273L 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. 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. 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. 69934356 c.2507C>T p.S836F missense 0.00004119●●●●●●
93. 69902780 c.986C>T p.A329V 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. 69881503 c.308A>T p.D103V missense 0.00003300●●●●●●
101. 69881274 c.79C>G p.R27G missense 0.00003300●●●●●●
102. 69959153 c.3314C>T p.T1105I missense 0.00003300●●●●●●
103. 69905241 c.1088C>T p.S363F missense 0.00003300●●●●●●
104. 69881275 c.80G>C p.R27P missense 0.00003300●●●●●●
105. 69881380 c.185A>C p.D62A missense 0.00003299●●●●●●
106. 69957120 c.3170G>A p.R1057Q 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. 69934277 c.2428C>T p.R810C missense 0.00003296●●●●●●
112. 69908205 c.1226G>A p.R409H 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. 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. 69926213 c.1763C>T p.P588L missense 0.00002473●●●●●●
136. 69881812 c.617G>A p.R206Q missense 0.00002473●●●●●●
137. 69955267 c.3136A>C p.T1046P missense 0.00002473●●●●●●
138. 69926326 c.1876G>A p.D626N missense 0.00002473●●●●●●
139. 69955236 c.3105G>A p.M1035I missense 0.00002473●●●●●●
140. 69955256 c.3125G>A p.R1042H 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. 69970208 c.3959T>C p.L1320P missense 0.00002471●●●●●●
145. 69970184 c.3935G>A p.R1312Q missense 0.00002471●●●●●●
146. 69902737 c.943A>G p.I315V missense 0.00002471●●●●●●
147. 69934005 c.2156G>C p.S719T missense 0.00002471●●●●●●
148. 69970193 c.3944T>C p.V1315A missense 0.00002471●●●●●●
149. 69934038 c.2189C>T p.T730M missense 0.00002471●●●●●●
150. 69970160 c.3911C>T p.T1304M 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. 69881599 c.404C>G p.A135G missense 0.00001652●●●●●●
165. 69881707 c.512A>G p.K171R missense 0.00001652●●●●●●
166. 69957106 c.3159-3T>C splice site 0.00001651●●●●●●
167. 69902825 c.1031C>T p.S344F missense 0.00001650●●●●●●
168. 69881878 c.683T>C p.L228P missense 0.00001650●●●●●●
169. 69935084 c.2569T>A p.S857T missense 0.00001650●●●●●●
170. 69881316 c.121C>G p.P41A missense 0.00001650●●●●●●
171. 69881301 c.106G>C p.E36Q missense 0.00001650●●●●●●
172. 69957227 c.3277G>A p.D1093N missense 0.00001650●●●●●●
173. 69957116 c.3166T>A p.S1056T missense 0.00001650●●●●●●
174. 69905291 c.1130+8T>C splice site 0.00001649●●●●●●
175. 69881470 c.275A>G p.D92G missense 0.00001649●●●●●●
176. 69926074 c.1624G>A p.G542R missense 0.00001649●●●●●●
177. 69948821 c.2863C>G p.R955G missense 0.00001649●●●●●●
178. 69909832 c.1281T>G p.D427E missense 0.00001649●●●●●●
179. 69905262 c.1109C>T p.P370L missense 0.00001649●●●●●●
180. 69881857 c.662A>G p.D221G missense 0.00001649●●●●●●
181. 69902807 c.1013G>A p.R338H missense 0.00001649●●●●●●
182. 69926215 c.1765C>T p.R589W missense 0.00001649●●●●●●
183. 69905286 c.1130+3A>C splice site 0.00001649●●●●●●
184. 69905265 c.1112A>G p.N371S missense 0.00001649●●●●●●
185. 69902813 c.1019C>G p.S340C missense 0.00001649●●●●●●
186. 69970073 c.3824T>C p.M1275T missense 0.00001648●●●●●●
187. 69908138 c.1159C>T p.P387S missense 0.00001648●●●●●●
188. 69935169 c.2654G>A p.R885Q missense 0.00001648●●●●●●
189. 69902743 c.949A>G p.I317V missense 0.00001648●●●●●●
190. 69935198 c.2683G>T p.D895Y missense 0.00001648●●●●●●
191. 69957168 c.3218C>A p.P1073Q missense 0.00001648●●●●●●
192. 69935144 c.2629C>T p.R877C missense 0.00001648●●●●●●
193. 69908175 c.1196C>T p.P399L missense 0.00001648●●●●●●
194. 69934238 c.2389T>C p.F797L missense 0.00001648●●●●●●
195. 69959281 c.3442G>A p.A1148T missense 0.00001648●●●●●●
196. 69935145 c.2630G>T p.R877L missense 0.00001648●●●●●●
197. 69970035 c.3794-8T>C splice site 0.00001648●●●●●●
198. 69926221 c.1771A>G p.S591G missense 0.00001648●●●●●●
199. 69926099 c.1649C>T p.T550I missense 0.00001648●●●●●●
200. 69970045 c.3796C>T p.Q1266X nonsense 0.00001648●●●●●●
201. 69957155 c.3205C>T p.R1069C missense 0.00001648●●●●●●
202. 69934314 c.2465G>A p.R822Q missense 0.00001648●●●●●●
203. 69935145 c.2630G>A p.R877H missense 0.00001648●●●●●●
204. 69959254 c.3415C>T p.R1139C missense 0.00001648●●●●●●
205. 69957156 c.3206G>A p.R1069H missense 0.00001648●●●●●●
206. 69934150 c.2301delC p.Ser769LeufsTer92 frameshift 0.00001648●●●●●●
207. 69926257 c.1807C>A p.P603T missense 0.00001648●●●●●●
208. 69933834 c.1985A>C p.Q662P missense 0.00001648●●●●●●
209. 69970172 c.3923C>T p.S1308L missense 0.00001647●●●●●●
210. 69970102 c.3853G>A p.G1285R missense 0.00001647●●●●●●
211. 69934077 c.2228C>A p.P743Q missense 0.00001647●●●●●●
212. 69933963 c.2114C>T p.T705I missense 0.00001647●●●●●●
213. 69970103 c.3854G>A p.G1285E missense 0.00001647●●●●●●
214. 69933900 c.2051C>G p.S684C missense 0.00001647●●●●●●
215. 69934008 c.2159T>G p.L720W 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. 69921508 c.1482A>T splice site 0.00000836●●●●●●
229. 69882066 c.871A>C p.I291L missense 0.00000836●●●●●●
230. 69961580 c.3494-6G>A splice site 0.00000835●●●●●●
231. 69881195 c.-1C>A splice site 0.00000835●●●●●●
232. 69882000 c.805C>T p.P269S missense 0.00000835●●●●●●
233. 69961580 c.3494-6G>T splice site 0.00000835●●●●●●
234. 69882051 c.856G>A p.V286I missense 0.00000835●●●●●●
235. 69881986 c.791C>T p.P264L missense 0.00000835●●●●●●
236. 69882000 c.805C>G p.P269A missense 0.00000835●●●●●●
237. 69961579 c.3494-7T>C splice site 0.00000835●●●●●●
238. 69882048 c.853C>T p.R285X nonsense 0.00000835●●●●●●
239. 69881989 c.794T>C p.L265P missense 0.00000835●●●●●●
240. 69881971 c.776T>A p.L259Q missense 0.00000834●●●●●●
241. 69881953 c.758G>T p.G253V missense 0.00000834●●●●●●
242. 69882009 c.814A>G p.T272A missense 0.00000834●●●●●●
243. 69881946 c.751A>G p.T251A missense 0.00000834●●●●●●
244. 69881950 c.755C>T p.P252L missense 0.00000834●●●●●●
245. 69882037 c.842C>A p.P281Q missense 0.00000833●●●●●●
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494. 69926102 c.1652C>T p.T551I missense 0.00000824●●●●●●
495. 69902719 c.925C>T p.L309F missense 0.00000824●●●●●●
496. 69970165 c.3916G>A p.V1306M missense 0.00000824●●●●●●
497. 69959214 c.3375G>T p.E1125D missense 0.00000824●●●●●●
498. 69934362 c.2513C>G p.P838R missense 0.00000824●●●●●●
499. 69934037 c.2188A>G p.T730A missense 0.00000824●●●●●●
500. 69926222 c.1772G>A p.S591N missense 0.00000824●●●●●●
501. 69970096 c.3847C>T p.R1283C missense 0.00000824●●●●●●
502. 69970048 c.3799T>C p.W1267R missense 0.00000824●●●●●●
503. 69935138 c.2623A>G p.N875D missense 0.00000824●●●●●●
504. 69933864 c.2015T>C p.L672P missense 0.00000824●●●●●●
505. 69908199 c.1220A>G p.Q407R missense 0.00000824●●●●●●
506. 69966564 c.3697A>T p.I1233F missense 0.00000824●●●●●●
507. 69934200 c.2351C>G p.P784R missense 0.00000824●●●●●●
508. 69881798 c.603T>G p.D201E missense 0.00000824●●●●●●
509. 69934233 c.2384C>A p.P795Q missense 0.00000824●●●●●●
510. 69970204 c.3955G>T p.E1319X nonsense 0.00000824●●●●●●
511. 69970188 c.3939T>G p.S1313R missense 0.00000824●●●●●●
512. 69959233 c.3394C>T p.L1132F missense 0.00000824●●●●●●
513. 69934136 c.2287C>G p.L763V missense 0.00000824●●●●●●
514. 69966601 c.3734C>T p.T1245M missense 0.00000824●●●●●●
515. 69881799 c.604C>A p.L202M missense 0.00000824●●●●●●
516. 69970145 c.3896C>T p.S1299F missense 0.00000824●●●●●●
517. 69935184 c.2669A>C p.K890T missense 0.00000824●●●●●●
518. 69933986 c.2137C>T p.P713S missense 0.00000824●●●●●●
519. 69902702 c.908A>G p.Y303C missense 0.00000824●●●●●●
520. 69933973 c.2124G>T p.K708N missense 0.00000824●●●●●●
521. 69926236 c.1786C>T p.L596F missense 0.00000824●●●●●●
522. 69966613 c.3746A>G p.K1249R missense 0.00000824●●●●●●
523. 69935120 c.2605C>G p.Q869E 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.