MYLK2 variants in ExAC

MYLK2 gene summary
MYLK2 variants in DCM

The table below lists the MYLK2 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. 30414528 c.1082+11G>A splice site 0.02060920●●●●●●
2. 30408306 c.430C>G p.P144A missense 0.01338202●●●●●●
3. 30408142 c.266G>A p.G89D missense 0.00402159●●●●●●
4. 30408049 c.173C>A p.A58D missense 0.00197789●●●●●●
5. 30411298 c.791C>T p.P264L missense 0.00119171●●●●●●
6. 30421514 c.1711-6C>T splice site 0.00113805●●●●●●
7. 30408160 c.284C>A p.A95E missense 0.00078456●●●●●●
8. 30414749 c.1224+8A>C splice site 0.00070445●●●●●●
9. 30407387 c.4G>A p.A2T missense 0.00067751●●●●●●
10. 30418696 c.1295+4C>A splice site 0.00064283●●●●●●
11. 30409276 c.508G>A p.E170K missense 0.00060746●●●●●●
12. 30414721 c.1204G>T p.V402F missense 0.00034670●●●●●●
13. 30411341 c.834T>A p.N278K missense 0.00030607●●●●●●
14. 30408157 c.281C>T p.P94L missense 0.00027621●●●●●●
15. 30412085 c.902C>A p.T301N missense 0.00016651●●●●●●
16. 30421587 c.1778C>T p.A593V missense 0.00015776●●●●●●
17. 30408207 c.331C>T p.P111S missense 0.00015447●●●●●●
18. 30419931 c.1702C>T p.R568C missense 0.00014600●●●●●●
19. 30419923 c.1694T>C p.M565T missense 0.00014506●●●●●●
20. 30408136 c.260C>T p.A87V missense 0.00013728●●●●●●
21. 30408070 c.194C>T p.T65I missense 0.00013330●●●●●●
22. 30412093 c.910G>A p.E304K missense 0.00010111●●●●●●
23. 30407433 c.50C>A p.T17K missense 0.00009749●●●●●●
24. 30418650 c.1253C>T p.T418I missense 0.00009061●●●●●●
25. 30419884 c.1655G>A p.R552Q missense 0.00008019●●●●●●
26. 30408103 c.227C>T p.P76L missense 0.00007562●●●●●●
27. 30414622 c.1105G>A p.E369K missense 0.00007428●●●●●●
28. 30419855 c.1626C>A p.N542K missense 0.00006852●●●●●●
29. 30408067 c.191G>C p.G64A missense 0.00006663●●●●●●
30. 30421575 c.1766G>A p.G589E missense 0.00006624●●●●●●
31. 30418652 c.1255G>A p.G419R missense 0.00006590●●●●●●
32. 30408063 c.187G>T p.D63Y missense 0.00005826●●●●●●
33. 30408033 c.157G>A p.D53N missense 0.00005812●●●●●●
34. 30408010 c.134C>T p.P45L missense 0.00005810●●●●●●
35. 30414640 c.1123G>A p.D375N missense 0.00005773●●●●●●
36. 30408169 c.293C>T p.P98L missense 0.00005169●●●●●●
37. 30408243 c.367C>T p.P123S missense 0.00005140●●●●●●
38. 30409292 c.524C>A p.T175N missense 0.00004979●●●●●●
39. 30409325 c.557C>T p.T186M missense 0.00004974●●●●●●
40. 30419501 c.1425-5T>C splice site 0.00004948●●●●●●
41. 30414454 c.1019G>A p.R340H missense 0.00004945●●●●●●
42. 30407435 c.52G>C p.D18H missense 0.00004878●●●●●●
43. 30407433 c.50C>T p.T17I missense 0.00004875●●●●●●
44. 30407388 c.5C>A p.A2E missense 0.00004839●●●●●●
45. 30412106 c.923G>A p.G308D missense 0.00004643●●●●●●
46. 30419878 c.1649G>A p.C550Y missense 0.00004592●●●●●●
47. 30419932 c.1703G>A p.R568H missense 0.00004491●●●●●●
48. 30408339 c.463A>T p.I155F missense 0.00004342●●●●●●
49. 30408301 c.425G>T p.G142V missense 0.00004305●●●●●●
50. 30408298 c.422G>A p.R141K missense 0.00004302●●●●●●
51. 30408099 c.223G>A p.G75S missense 0.00004197●●●●●●
52. 30414694 c.1177G>A p.G393R missense 0.00004123●●●●●●
53. 30418829 c.1309G>A p.E437K missense 0.00004120●●●●●●
54. 30412068 c.885G>C p.K295N missense 0.00003803●●●●●●
55. 30419874 c.1645C>T p.R549C missense 0.00003457●●●●●●
56. 30408181 c.305C>T p.A102V missense 0.00003444●●●●●●
57. 30419877 c.1648T>G p.C550G missense 0.00003441●●●●●●
58. 30408198 c.322G>A p.V108I missense 0.00003434●●●●●●
59. 30409363 c.595A>G p.I199V missense 0.00003310●●●●●●
60. 30414490 c.1055C>T p.P352L missense 0.00003297●●●●●●
61. 30419525 c.1444T>G p.F482V missense 0.00003296●●●●●●
62. 30419615 c.1534G>A p.E512K missense 0.00003295●●●●●●
63. 30419532 c.1451G>A p.G484E missense 0.00003295●●●●●●
64. 30419827 c.1598A>G p.Q533R missense 0.00003260●●●●●●
65. 30412134 c.951G>C p.K317N missense 0.00003002●●●●●●
66. 30408135 c.259G>A p.A87T missense 0.00002574●●●●●●
67. 30411289 c.782C>T p.P261L missense 0.00002507●●●●●●
68. 30421595 c.1786G>T p.V596F missense 0.00002495●●●●●●
69. 30409279 c.511G>A p.A171T missense 0.00002494●●●●●●
70. 30409292 c.524C>T p.T175I missense 0.00002490●●●●●●
71. 30409330 c.562C>T p.P188S missense 0.00002487●●●●●●
72. 30421577 c.1768G>T p.A590S missense 0.00002484●●●●●●
73. 30409370 c.602C>T p.A201V missense 0.00002482●●●●●●
74. 30409374 c.606G>C p.E202D missense 0.00002482●●●●●●
75. 30409445 c.677G>C p.R226T missense 0.00002480●●●●●●
76. 30421556 c.1747_1749delAAG p.K583del1 inframe 0.00002476●●●●●●
77. 30421550 c.1741C>T p.R581C missense 0.00002475●●●●●●
78. 30421516 c.1711-4C>T splice site 0.00002474●●●●●●
79. 30418689 c.1292G>A p.R431Q missense 0.00002472●●●●●●
80. 30419591 c.1510G>C p.E504Q missense 0.00002471●●●●●●
81. 30419575 c.1494C>A p.N498K missense 0.00002471●●●●●●
82. 30419886 c.1657C>T p.R553C missense 0.00002288●●●●●●
83. 30419945 c.1710+6G>A splice site 0.00002285●●●●●●
84. 30419851 c.1622A>G p.N541S missense 0.00002277●●●●●●
85. 30419944 c.1710+5C>T splice site 0.00002276●●●●●●
86. 30419929 c.1700G>A p.R567K missense 0.00002243●●●●●●
87. 30419835 c.1606G>A p.A536T missense 0.00002237●●●●●●
88. 30419820 c.1591G>A p.A531T missense 0.00002147●●●●●●
89. 30412126 c.943G>A p.V315I missense 0.00001950●●●●●●
90. 30408339 c.463A>G p.I155V missense 0.00001737●●●●●●
91. 30408162 c.286G>A p.A96T missense 0.00001725●●●●●●
92. 30408279 c.403G>C p.G135R missense 0.00001717●●●●●●
93. 30408213 c.337G>T p.A113S missense 0.00001716●●●●●●
94. 30408271 c.395C>T p.A132V missense 0.00001716●●●●●●
95. 30408240 c.364G>C p.D122H missense 0.00001713●●●●●●
96. 30408126 c.250G>A p.G84R missense 0.00001711●●●●●●
97. 30408119 c.243C>G p.D81E missense 0.00001704●●●●●●
98. 30408102 c.226C>T p.P76S missense 0.00001680●●●●●●
99. 30411273 c.773-7C>T splice site 0.00001677●●●●●●
100. 30409487 c.719T>C p.V240A missense 0.00001667●●●●●●
101. 30407922 c.53-7T>C splice site 0.00001667●●●●●●
102. 30408069 c.193A>G p.T65A missense 0.00001666●●●●●●
103. 30409483 c.715G>A p.E239K missense 0.00001664●●●●●●
104. 30408060 c.184G>A p.G62R missense 0.00001664●●●●●●
105. 30409280 c.512C>A p.A171E missense 0.00001662●●●●●●
106. 30407973 c.97G>C p.G33R missense 0.00001659●●●●●●
107. 30409472 c.704C>T p.S235L missense 0.00001658●●●●●●
108. 30409340 c.572C>T p.A191V missense 0.00001657●●●●●●
109. 30414746 c.1224+5C>A splice site 0.00001657●●●●●●
110. 30411336 c.829G>A p.G277R missense 0.00001655●●●●●●
111. 30409367 c.599T>C p.L200P missense 0.00001655●●●●●●
112. 30409453 c.685G>A p.E229K missense 0.00001654●●●●●●
113. 30414596 c.1083-4A>G splice site 0.00001652●●●●●●
114. 30409430 c.662A>G p.Q221R missense 0.00001652●●●●●●
115. 30414604 c.1087G>A p.E363K missense 0.00001652●●●●●●
116. 30414600 c.1083C>T splice site 0.00001652●●●●●●
117. 30421548 c.1739A>T p.N580I missense 0.00001650●●●●●●
118. 30414629 c.1112T>C p.I371T missense 0.00001650●●●●●●
119. 30414521 c.1082+4A>C splice site 0.00001649●●●●●●
120. 30418805 c.1296-11C>G splice site 0.00001648●●●●●●
121. 30419615 c.1534G>C p.E512Q missense 0.00001647●●●●●●
122. 30419595 c.1514C>T p.T505I missense 0.00001647●●●●●●
123. 30419645 c.1564G>A p.V522I missense 0.00001647●●●●●●
124. 30412159 c.972+4G>T splice site 0.00001157●●●●●●
125. 30419880 c.1651A>G p.N551D missense 0.00001145●●●●●●
126. 30419887 c.1658G>A p.R553H missense 0.00001143●●●●●●
127. 30419854 c.1625A>G p.N542S missense 0.00001141●●●●●●
128. 30419940 c.1710+1G>T essential splice site 0.00001128●●●●●●
129. 30419898 c.1669C>T p.Q557X nonsense 0.00001128●●●●●●
130. 30419901 c.1672A>C p.I558L missense 0.00001123●●●●●●
131. 30419932 c.1703G>T p.R568L missense 0.00001123●●●●●●
132. 30419916 c.1687T>C p.Y563H missense 0.00001117●●●●●●
133. 30419811 c.1582C>T p.R528W missense 0.00001052●●●●●●
134. 30412108 c.925C>T p.L309F missense 0.00000932●●●●●●
135. 30412102 c.919A>G p.T307A missense 0.00000924●●●●●●
136. 30412091 c.908T>C p.M303T missense 0.00000920●●●●●●
137. 30409547 c.772+7C>G splice site 0.00000909●●●●●●
138. 30408352 c.473+3G>A splice site 0.00000874●●●●●●
139. 30409527 c.759C>G p.C253W missense 0.00000873●●●●●●
140. 30408320 c.444T>G p.H148Q missense 0.00000864●●●●●●
141. 30408153 c.277C>A p.P93T missense 0.00000863●●●●●●
142. 30408318 c.442C>G p.H148D missense 0.00000863●●●●●●
143. 30408153 c.277C>T p.P93S missense 0.00000863●●●●●●
144. 30408163 c.287C>T p.A96V missense 0.00000862●●●●●●
145. 30408306 c.430C>T p.P144S missense 0.00000861●●●●●●
146. 30408294 c.418A>T p.R140W missense 0.00000860●●●●●●
147. 30408144 c.268A>G p.S90G missense 0.00000859●●●●●●
148. 30408280 c.404G>A p.G135D missense 0.00000858●●●●●●
149. 30408212 c.336G>T p.K112N missense 0.00000858●●●●●●
150. 30408274 c.398C>T p.A133V missense 0.00000858●●●●●●
151. 30408132 c.256C>G p.P86A missense 0.00000857●●●●●●
152. 30408249 c.373_374insTGGTCTC p.Lys125MetfsTer27 frameshift 0.00000857●●●●●●
153. 30408250 c.374A>T p.K125M missense 0.00000857●●●●●●
154. 30408257 c.381G>T p.R127S missense 0.00000857●●●●●●
155. 30408247 c.371G>A p.G124E missense 0.00000857●●●●●●
156. 30408259 c.383T>A p.V128E missense 0.00000857●●●●●●
157. 30408249 c.373A>G p.K125E missense 0.00000857●●●●●●
158. 30409511 c.743C>T p.A248V missense 0.00000855●●●●●●
159. 30408120 c.244_245delAG p.Arg82GlyfsTer23 frameshift 0.00000852●●●●●●
160. 30408115 c.239G>T p.G80V missense 0.00000848●●●●●●
161. 30409235 c.474-7C>T splice site 0.00000844●●●●●●
162. 30409241 c.474-1G>C essential splice site 0.00000842●●●●●●
163. 30409247 c.479A>G p.E160G missense 0.00000840●●●●●●
164. 30408097 c.221A>G p.Q74R missense 0.00000839●●●●●●
165. 30408097 c.221A>C p.Q74P missense 0.00000839●●●●●●
166. 30421599 c.1790G>A nonsense 0.00000833●●●●●●
167. 30407933 c.57G>C p.K19N missense 0.00000833●●●●●●
168. 30407930 c.54C>T splice site 0.00000833●●●●●●
169. 30407938 c.62C>A p.P21H missense 0.00000832●●●●●●
170. 30408063 c.187G>C p.D63H missense 0.00000832●●●●●●
171. 30408043 c.167C>T p.A56V missense 0.00000831●●●●●●
172. 30407952 c.76G>T p.G26C missense 0.00000831●●●●●●
173. 30411315 c.808C>T p.R270C missense 0.00000831●●●●●●
174. 30408043 c.167C>A p.A56D missense 0.00000831●●●●●●
175. 30407944 c.68G>A p.G23D missense 0.00000831●●●●●●
176. 30408043 c.167C>G p.A56G missense 0.00000831●●●●●●
177. 30407953 c.77G>A p.G26D missense 0.00000831●●●●●●
178. 30407961 c.85C>A p.P29T missense 0.00000830●●●●●●
179. 30407982 c.106C>T p.P36S missense 0.00000830●●●●●●
180. 30408022 c.146C>T p.T49I missense 0.00000830●●●●●●
181. 30407986 c.110G>A p.G37D missense 0.00000830●●●●●●
182. 30407970 c.94G>T p.A32S missense 0.00000830●●●●●●
183. 30408001 c.125A>G p.K42R missense 0.00000830●●●●●●
184. 30408025 c.149T>G p.L50R missense 0.00000830●●●●●●
185. 30411316 c.809G>A p.R270H missense 0.00000830●●●●●●
186. 30411318 c.811A>C p.M271L missense 0.00000830●●●●●●
187. 30407989 c.113C>A p.P38H missense 0.00000830●●●●●●
188. 30408037 c.161C>A p.A54D missense 0.00000830●●●●●●
189. 30421583 c.1774A>G p.M592V missense 0.00000829●●●●●●
190. 30411320 c.813G>T p.M271I missense 0.00000829●●●●●●
191. 30409304 c.536T>G p.V179G missense 0.00000829●●●●●●
192. 30411321 c.814G>A p.V272M missense 0.00000829●●●●●●
193. 30409319 c.551G>A p.S184N missense 0.00000829●●●●●●
194. 30414742 c.1224+1G>T essential splice site 0.00000828●●●●●●
195. 30411382 c.875G>A p.G292E missense 0.00000828●●●●●●
196. 30409469 c.701C>G p.P234R missense 0.00000828●●●●●●
197. 30409353 c.585A>C p.E195D missense 0.00000828●●●●●●
198. 30411378 c.871C>T p.L291F missense 0.00000828●●●●●●
199. 30411345 c.838A>T p.S280C missense 0.00000827●●●●●●
200. 30411349 c.842G>C p.S281T missense 0.00000827●●●●●●
201. 30411336 c.829delG p.Asn278MetfsTer8 frameshift 0.00000827●●●●●●
202. 30414611 c.1094G>T p.G365V missense 0.00000826●●●●●●
203. 30414410 c.975A>C p.E325D missense 0.00000826●●●●●●
204. 30414593 c.1083-7C>G splice site 0.00000826●●●●●●
205. 30409426 c.658A>G p.M220V missense 0.00000826●●●●●●
206. 30409439 c.671C>G p.T224S missense 0.00000826●●●●●●
207. 30409390 c.622G>A p.G208R missense 0.00000826●●●●●●
208. 30414610 c.1093G>A p.G365R missense 0.00000826●●●●●●
209. 30409442 c.674C>T p.S225L missense 0.00000826●●●●●●
210. 30421565 c.1756A>G p.S586G missense 0.00000826●●●●●●
211. 30409400 c.632C>A p.T211N missense 0.00000826●●●●●●
212. 30421530 c.1721T>C p.I574T missense 0.00000825●●●●●●
213. 30418949 c.1424+5G>A splice site 0.00000825●●●●●●
214. 30419500 c.1425-6C>T splice site 0.00000825●●●●●●
215. 30414652 c.1135A>G p.T379A missense 0.00000825●●●●●●
216. 30414614 c.1097A>G p.E366G missense 0.00000825●●●●●●
217. 30414414 c.979G>A p.V327M missense 0.00000825●●●●●●
218. 30414715 c.1198A>G p.M400V missense 0.00000825●●●●●●
219. 30414523 c.1082+6T>C splice site 0.00000825●●●●●●
220. 30421521 c.1712A>G p.K571R missense 0.00000825●●●●●●
221. 30414525 c.1082+8C>A splice site 0.00000825●●●●●●
222. 30418626 c.1229A>G p.E410G missense 0.00000824●●●●●●
223. 30414453 c.1018C>T p.R340C missense 0.00000824●●●●●●
224. 30414457 c.1022A>G p.N341S missense 0.00000824●●●●●●
225. 30419631 c.1550T>C p.V517A missense 0.00000824●●●●●●
226. 30419561 c.1480G>C p.V494L missense 0.00000824●●●●●●
227. 30414685 c.1168A>G p.I390V missense 0.00000824●●●●●●
228. 30414501 c.1066G>A p.V356I missense 0.00000824●●●●●●
229. 30419578 c.1497G>T p.W499C missense 0.00000824●●●●●●
230. 30418881 c.1361T>C p.V454A missense 0.00000824●●●●●●
231. 30418853 c.1333A>G p.T445A missense 0.00000824●●●●●●
232. 30414459 c.1024C>G p.L342V missense 0.00000824●●●●●●
233. 30414453 c.1018C>A p.R340S missense 0.00000824●●●●●●
234. 30414688 c.1171T>C p.C391R missense 0.00000824●●●●●●
235. 30419639 c.1558C>G p.L520V missense 0.00000824●●●●●●
236. 30419561 c.1480G>A p.V494I missense 0.00000824●●●●●●
237. 30414511 c.1076T>C p.M359T missense 0.00000824●●●●●●
238. 30419586 c.1505A>G p.D502G missense 0.00000824●●●●●●
239. 30419603 c.1522G>A p.A508T missense 0.00000824●●●●●●
240. 30418853 c.1333A>T p.T445S missense 0.00000824●●●●●●
241. 30414664 c.1147A>G p.T383A missense 0.00000824●●●●●●
242. 30414472 c.1037A>G p.Y346C missense 0.00000824●●●●●●
243. 30419538 c.1457A>G p.D486G missense 0.00000824●●●●●●
244. 30419565 c.1484T>G p.L495R missense 0.00000824●●●●●●
245. 30419560 c.1479C>A p.N493K missense 0.00000824●●●●●●
246. 30418823 c.1303C>T p.P435S missense 0.00000824●●●●●●
247. 30414436 c.1001T>G p.M334R missense 0.00000824●●●●●●
248. 30419622 c.1541A>G p.K514R missense 0.00000824●●●●●●
249. 30419595 c.1514C>G p.T505S missense 0.00000824●●●●●●
250. 30414480 c.1045A>T p.I349F missense 0.00000824●●●●●●
251. 30418923 c.1403T>C p.M468T missense 0.00000824●●●●●●
252. 30419618 c.1537G>A p.A513T missense 0.00000824●●●●●●
253. 30414684 c.1167G>C p.Q389H missense 0.00000824●●●●●●
254. 30414490 c.1055C>G p.P352R 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.