MYLK2 protein-altering variants in ExAC


The table below lists the MYLK2 protein-altering variants found in the ExAC population database with a mean allelic frequency (MAF) less than 0.0001, classified for this study as a rare variant. 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 frequencyPopulations*
1. 30407433 c.50C>A p.T17K missense 0.00009749
2. 30418650 c.1253C>T p.T418I missense 0.00009061
3. 30419884 c.1655G>A p.R552Q missense 0.00008019
4. 30408103 c.227C>T p.P76L missense 0.00007562
5. 30414622 c.1105G>A p.E369K missense 0.00007428
6. 30419855 c.1626C>A p.N542K missense 0.00006852
7. 30408067 c.191G>C p.G64A missense 0.00006663
8. 30421575 c.1766G>A p.G589E missense 0.00006624
9. 30418652 c.1255G>A p.G419R missense 0.00006590
10. 30408063 c.187G>T p.D63Y missense 0.00005826
11. 30408033 c.157G>A p.D53N missense 0.00005812
12. 30408010 c.134C>T p.P45L missense 0.00005810
13. 30414640 c.1123G>A p.D375N missense 0.00005773
14. 30408169 c.293C>T p.P98L missense 0.00005169
15. 30408243 c.367C>T p.P123S missense 0.00005140
16. 30409292 c.524C>A p.T175N missense 0.00004979
17. 30409325 c.557C>T p.T186M missense 0.00004974
18. 30414454 c.1019G>A p.R340H missense 0.00004945
19. 30407435 c.52G>C p.D18H missense 0.00004878
20. 30407433 c.50C>T p.T17I missense 0.00004875
21. 30407388 c.5C>A p.A2E missense 0.00004839
22. 30412106 c.923G>A p.G308D missense 0.00004643
23. 30419878 c.1649G>A p.C550Y missense 0.00004592
24. 30419932 c.1703G>A p.R568H missense 0.00004491
25. 30408339 c.463A>T p.I155F missense 0.00004342
26. 30408301 c.425G>T p.G142V missense 0.00004305
27. 30408298 c.422G>A p.R141K missense 0.00004302
28. 30408099 c.223G>A p.G75S missense 0.00004197
29. 30414694 c.1177G>A p.G393R missense 0.00004123
30. 30418829 c.1309G>A p.E437K missense 0.00004120
31. 30412068 c.885G>C p.K295N missense 0.00003803
32. 30419874 c.1645C>T p.R549C missense 0.00003457
33. 30408181 c.305C>T p.A102V missense 0.00003444
34. 30419877 c.1648T>G p.C550G missense 0.00003441
35. 30408198 c.322G>A p.V108I missense 0.00003434
36. 30409363 c.595A>G p.I199V missense 0.00003310
37. 30414490 c.1055C>T p.P352L missense 0.00003297
38. 30419525 c.1444T>G p.F482V missense 0.00003296
39. 30419615 c.1534G>A p.E512K missense 0.00003295
40. 30419532 c.1451G>A p.G484E missense 0.00003295
41. 30419827 c.1598A>G p.Q533R missense 0.00003260
42. 30412134 c.951G>C p.K317N missense 0.00003002
43. 30408135 c.259G>A p.A87T missense 0.00002574
44. 30411289 c.782C>T p.P261L missense 0.00002507
45. 30421595 c.1786G>T p.V596F missense 0.00002495
46. 30409279 c.511G>A p.A171T missense 0.00002494
47. 30409292 c.524C>T p.T175I missense 0.00002490
48. 30409330 c.562C>T p.P188S missense 0.00002487
49. 30421577 c.1768G>T p.A590S missense 0.00002484
50. 30409374 c.606G>C p.E202D missense 0.00002482
51. 30409370 c.602C>T p.A201V missense 0.00002482
52. 30409445 c.677G>C p.R226T missense 0.00002480
53. 30421556 c.1747_1749delAAG p.K583del1 inframe 0.00002476
54. 30421550 c.1741C>T p.R581C missense 0.00002475
55. 30418689 c.1292G>A p.R431Q missense 0.00002472
56. 30419575 c.1494C>A p.N498K missense 0.00002471
57. 30419591 c.1510G>C p.E504Q missense 0.00002471
58. 30419886 c.1657C>T p.R553C missense 0.00002288
59. 30419851 c.1622A>G p.N541S missense 0.00002277
60. 30419929 c.1700G>A p.R567K missense 0.00002243
61. 30419835 c.1606G>A p.A536T missense 0.00002237
62. 30419820 c.1591G>A p.A531T missense 0.00002147
63. 30412126 c.943G>A p.V315I missense 0.00001950
64. 30408339 c.463A>G p.I155V missense 0.00001737
65. 30408162 c.286G>A p.A96T missense 0.00001725
66. 30408279 c.403G>C p.G135R missense 0.00001717
67. 30408213 c.337G>T p.A113S missense 0.00001716
68. 30408271 c.395C>T p.A132V missense 0.00001716
69. 30408240 c.364G>C p.D122H missense 0.00001713
70. 30408126 c.250G>A p.G84R missense 0.00001711
71. 30408119 c.243C>G p.D81E missense 0.00001704
72. 30408102 c.226C>T p.P76S missense 0.00001680
73. 30409487 c.719T>C p.V240A missense 0.00001667
74. 30408069 c.193A>G p.T65A missense 0.00001666
75. 30408060 c.184G>A p.G62R missense 0.00001664
76. 30409483 c.715G>A p.E239K missense 0.00001664
77. 30409280 c.512C>A p.A171E missense 0.00001662
78. 30407973 c.97G>C p.G33R missense 0.00001659
79. 30409472 c.704C>T p.S235L missense 0.00001658
80. 30409340 c.572C>T p.A191V missense 0.00001657
81. 30411336 c.829G>A p.G277R missense 0.00001655
82. 30409367 c.599T>C p.L200P missense 0.00001655
83. 30409453 c.685G>A p.E229K missense 0.00001654
84. 30414604 c.1087G>A p.E363K missense 0.00001652
85. 30409430 c.662A>G p.Q221R missense 0.00001652
86. 30421548 c.1739A>T p.N580I missense 0.00001650
87. 30414629 c.1112T>C p.I371T missense 0.00001650
88. 30419595 c.1514C>T p.T505I missense 0.00001647
89. 30419615 c.1534G>C p.E512Q missense 0.00001647
90. 30419645 c.1564G>A p.V522I missense 0.00001647
91. 30419880 c.1651A>G p.N551D missense 0.00001145
92. 30419887 c.1658G>A p.R553H missense 0.00001143
93. 30419854 c.1625A>G p.N542S missense 0.00001141
94. 30419940 c.1710+1G>T essential splice site 0.00001128
95. 30419898 c.1669C>T p.Q557X nonsense 0.00001128
96. 30419901 c.1672A>C p.I558L missense 0.00001123
97. 30419932 c.1703G>T p.R568L missense 0.00001123
98. 30419916 c.1687T>C p.Y563H missense 0.00001117
99. 30419811 c.1582C>T p.R528W missense 0.00001052
100. 30412108 c.925C>T p.L309F missense 0.00000932
101. 30412102 c.919A>G p.T307A missense 0.00000924
102. 30412091 c.908T>C p.M303T missense 0.00000920
103. 30409527 c.759C>G p.C253W missense 0.00000873
104. 30408320 c.444T>G p.H148Q missense 0.00000864
105. 30408153 c.277C>A p.P93T missense 0.00000863
106. 30408318 c.442C>G p.H148D missense 0.00000863
107. 30408153 c.277C>T p.P93S missense 0.00000863
108. 30408163 c.287C>T p.A96V missense 0.00000862
109. 30408306 c.430C>T p.P144S missense 0.00000861
110. 30408294 c.418A>T p.R140W missense 0.00000860
111. 30408144 c.268A>G p.S90G missense 0.00000859
112. 30408274 c.398C>T p.A133V missense 0.00000858
113. 30408212 c.336G>T p.K112N missense 0.00000858
114. 30408280 c.404G>A p.G135D missense 0.00000858
115. 30408250 c.374A>T p.K125M missense 0.00000857
116. 30408132 c.256C>G p.P86A missense 0.00000857
117. 30408257 c.381G>T p.R127S missense 0.00000857
118. 30408247 c.371G>A p.G124E missense 0.00000857
119. 30408249 c.373_374insTGGTCTC p.Lys125MetfsTer27 frameshift 0.00000857
120. 30408259 c.383T>A p.V128E missense 0.00000857
121. 30408249 c.373A>G p.K125E missense 0.00000857
122. 30409511 c.743C>T p.A248V missense 0.00000855
123. 30408120 c.244_245delAG p.Arg82GlyfsTer23 frameshift 0.00000852
124. 30408115 c.239G>T p.G80V missense 0.00000848
125. 30409241 c.474-1G>C essential splice site 0.00000842
126. 30409247 c.479A>G p.E160G missense 0.00000840
127. 30408097 c.221A>G p.Q74R missense 0.00000839
128. 30408097 c.221A>C p.Q74P missense 0.00000839
129. 30407933 c.57G>C p.K19N missense 0.00000833
130. 30421599 c.1790G>A nonsense 0.00000833
131. 30408063 c.187G>C p.D63H missense 0.00000832
132. 30407938 c.62C>A p.P21H missense 0.00000832
133. 30411315 c.808C>T p.R270C missense 0.00000831
134. 30408043 c.167C>G p.A56G missense 0.00000831
135. 30407952 c.76G>T p.G26C missense 0.00000831
136. 30407953 c.77G>A p.G26D missense 0.00000831
137. 30408043 c.167C>T p.A56V missense 0.00000831
138. 30408043 c.167C>A p.A56D missense 0.00000831
139. 30407944 c.68G>A p.G23D missense 0.00000831
140. 30408037 c.161C>A p.A54D missense 0.00000830
141. 30408001 c.125A>G p.K42R missense 0.00000830
142. 30411318 c.811A>C p.M271L missense 0.00000830
143. 30411316 c.809G>A p.R270H missense 0.00000830
144. 30407982 c.106C>T p.P36S missense 0.00000830
145. 30408022 c.146C>T p.T49I missense 0.00000830
146. 30407961 c.85C>A p.P29T missense 0.00000830
147. 30407986 c.110G>A p.G37D missense 0.00000830
148. 30407970 c.94G>T p.A32S missense 0.00000830
149. 30407989 c.113C>A p.P38H missense 0.00000830
150. 30408025 c.149T>G p.L50R missense 0.00000830
151. 30409304 c.536T>G p.V179G missense 0.00000829
152. 30411320 c.813G>T p.M271I missense 0.00000829
153. 30421583 c.1774A>G p.M592V missense 0.00000829
154. 30409319 c.551G>A p.S184N missense 0.00000829
155. 30411321 c.814G>A p.V272M missense 0.00000829
156. 30409469 c.701C>G p.P234R missense 0.00000828
157. 30409353 c.585A>C p.E195D missense 0.00000828
158. 30414742 c.1224+1G>T essential splice site 0.00000828
159. 30411378 c.871C>T p.L291F missense 0.00000828
160. 30411382 c.875G>A p.G292E missense 0.00000828
161. 30411345 c.838A>T p.S280C missense 0.00000827
162. 30411336 c.829delG p.Asn278MetfsTer8 frameshift 0.00000827
163. 30411349 c.842G>C p.S281T missense 0.00000827
164. 30409439 c.671C>G p.T224S missense 0.00000826
165. 30414611 c.1094G>T p.G365V missense 0.00000826
166. 30409390 c.622G>A p.G208R missense 0.00000826
167. 30414410 c.975A>C p.E325D missense 0.00000826
168. 30421565 c.1756A>G p.S586G missense 0.00000826
169. 30409400 c.632C>A p.T211N missense 0.00000826
170. 30409442 c.674C>T p.S225L missense 0.00000826
171. 30414610 c.1093G>A p.G365R missense 0.00000826
172. 30409426 c.658A>G p.M220V missense 0.00000826
173. 30421521 c.1712A>G p.K571R missense 0.00000825
174. 30414652 c.1135A>G p.T379A missense 0.00000825
175. 30414614 c.1097A>G p.E366G missense 0.00000825
176. 30421530 c.1721T>C p.I574T missense 0.00000825
177. 30414414 c.979G>A p.V327M missense 0.00000825
178. 30414715 c.1198A>G p.M400V missense 0.00000825
179. 30418626 c.1229A>G p.E410G missense 0.00000824
180. 30414453 c.1018C>T p.R340C missense 0.00000824
181. 30419538 c.1457A>G p.D486G missense 0.00000824
182. 30414480 c.1045A>T p.I349F missense 0.00000824
183. 30414457 c.1022A>G p.N341S missense 0.00000824
184. 30419631 c.1550T>C p.V517A missense 0.00000824
185. 30419561 c.1480G>C p.V494L missense 0.00000824
186. 30414685 c.1168A>G p.I390V missense 0.00000824
187. 30414501 c.1066G>A p.V356I missense 0.00000824
188. 30419578 c.1497G>T p.W499C missense 0.00000824
189. 30418881 c.1361T>C p.V454A missense 0.00000824
190. 30418853 c.1333A>G p.T445A missense 0.00000824
191. 30414459 c.1024C>G p.L342V missense 0.00000824
192. 30414453 c.1018C>A p.R340S missense 0.00000824
193. 30419639 c.1558C>G p.L520V missense 0.00000824
194. 30419561 c.1480G>A p.V494I missense 0.00000824
195. 30414511 c.1076T>C p.M359T missense 0.00000824
196. 30419586 c.1505A>G p.D502G missense 0.00000824
197. 30419603 c.1522G>A p.A508T missense 0.00000824
198. 30418853 c.1333A>T p.T445S missense 0.00000824
199. 30414664 c.1147A>G p.T383A missense 0.00000824
200. 30414472 c.1037A>G p.Y346C missense 0.00000824
201. 30419565 c.1484T>G p.L495R missense 0.00000824
202. 30419560 c.1479C>A p.N493K missense 0.00000824
203. 30418823 c.1303C>T p.P435S missense 0.00000824
204. 30414436 c.1001T>G p.M334R missense 0.00000824
205. 30414688 c.1171T>C p.C391R missense 0.00000824
206. 30419622 c.1541A>G p.K514R missense 0.00000824
207. 30419595 c.1514C>G p.T505S missense 0.00000824
208. 30419618 c.1537G>A p.A513T missense 0.00000824
209. 30418923 c.1403T>C p.M468T missense 0.00000824
210. 30414684 c.1167G>C p.Q389H missense 0.00000824
211. 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.