LSM14A missense variants in ExAC

LSM14A gene summary
LSM14A variants in

The table below lists the LSM14A missense 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. 34706531 c.746A>G p.N249S missense 0.07743374●●●●●●
2. 34706203 c.713G>A p.R238Q missense 0.02037704●●●●●●
3. 34712618 c.1343G>A p.R448Q missense 0.00889242●●●●●●
4. 34687560 c.307T>C p.S103P missense 0.00369040●●●●●●
5. 34687596 c.343G>A p.G115S missense 0.00081545●●●●●●
6. 34712594 c.1319G>A p.G440E missense 0.00021426●●●●●●
7. 34712587 c.1312C>A p.R438S missense 0.00016480●●●●●●
8. 34706032 c.542G>T p.R181L missense 0.00010028●●●●●●
9. 34699900 c.482C>T p.A161V missense 0.00007506●●●●●●
10. 34699905 c.487G>T p.G163C missense 0.00007474●●●●●●
11. 34706051 c.561C>A p.D187E missense 0.00007438●●●●●●
12. 34710382 c.868A>G p.M290V missense 0.00007423●●●●●●
13. 34699839 c.421A>G p.S141G missense 0.00007121●●●●●●
14. 34712417 c.1142G>A p.R381Q missense 0.00006971●●●●●●
15. 34712521 c.1246G>A p.G416S missense 0.00006591●●●●●●
16. 34710694 c.1048A>C p.N350H missense 0.00004982●●●●●●
17. 34710700 c.1054G>A p.D352N missense 0.00004981●●●●●●
18. 34706094 c.604G>A p.A202T missense 0.00004944●●●●●●
19. 34718278 c.1377C>G p.N459K missense 0.00004183●●●●●●
20. 34706533 c.748G>C p.E250Q missense 0.00004129●●●●●●
21. 34712609 c.1334G>A p.R445H missense 0.00004126●●●●●●
22. 34712542 c.1267C>T p.R423C missense 0.00004119●●●●●●
23. 34699933 c.515C>G p.S172C missense 0.00003305●●●●●●
24. 34706031 c.541C>T p.R181C missense 0.00002516●●●●●●
25. 34710458 c.944A>T p.H315L missense 0.00002499●●●●●●
26. 34710721 c.1075C>T p.P359S missense 0.00002487●●●●●●
27. 34712627 c.1352C>T p.A451V missense 0.00002485●●●●●●
28. 34706062 c.572A>G p.K191R missense 0.00002474●●●●●●
29. 34712485 c.1210C>T p.R404C missense 0.00002473●●●●●●
30. 34712477 c.1202G>A p.R401H missense 0.00002473●●●●●●
31. 34712491 c.1216C>T p.R406C missense 0.00002472●●●●●●
32. 34663645 c.98A>G p.N33S missense 0.00001777●●●●●●
33. 34710614 c.968A>G p.D323G missense 0.00001718●●●●●●
34. 34663554 c.7G>C p.G3R missense 0.00001674●●●●●●
35. 34699900 c.482C>A p.A161E missense 0.00001668●●●●●●
36. 34718289 c.1388C>T p.A463V missense 0.00001663●●●●●●
37. 34706546 c.761A>G p.N254S missense 0.00001653●●●●●●
38. 34710334 c.820G>T p.G274C missense 0.00001653●●●●●●
39. 34706549 c.764A>G p.D255G missense 0.00001653●●●●●●
40. 34706140 c.650C>T p.P217L missense 0.00001653●●●●●●
41. 34699927 c.509C>T p.T170I missense 0.00001653●●●●●●
42. 34712476 c.1201C>T p.R401C missense 0.00001649●●●●●●
43. 34712543 c.1268G>A p.R423H missense 0.00001648●●●●●●
44. 34706073 c.583A>G p.M195V missense 0.00001648●●●●●●
45. 34712590 c.1315G>A p.G439S missense 0.00001648●●●●●●
46. 34712588 c.1313G>A p.R438H missense 0.00001648●●●●●●
47. 34712548 c.1273G>A p.G425S missense 0.00001648●●●●●●
48. 34685419 c.158G>A p.R53H missense 0.00001647●●●●●●
49. 34699836 c.418G>A p.G140R missense 0.00001544●●●●●●
50. 34699855 c.437T>C p.F146S missense 0.00001077●●●●●●
51. 34706201 c.711G>T p.R237S missense 0.00001042●●●●●●
52. 34699861 c.443C>T p.T148I missense 0.00000999●●●●●●
53. 34663615 c.68A>T p.E23V missense 0.00000942●●●●●●
54. 34699879 c.461G>T p.G154V missense 0.00000871●●●●●●
55. 34710620 c.974T>C p.L325P missense 0.00000855●●●●●●
56. 34712425 c.1150A>G p.T384A missense 0.00000849●●●●●●
57. 34710637 c.991C>G p.P331A missense 0.00000846●●●●●●
58. 34699893 c.475A>G p.S159G missense 0.00000840●●●●●●
59. 34706032 c.542G>A p.R181H missense 0.00000836●●●●●●
60. 34710674 c.1028A>G p.D343G missense 0.00000834●●●●●●
61. 34718285 c.1384G>C p.A462P missense 0.00000833●●●●●●
62. 34712437 c.1162G>A p.E388K missense 0.00000833●●●●●●
63. 34706153 c.663G>T p.R221S missense 0.00000831●●●●●●
64. 34706153 c.663G>C p.R221S missense 0.00000831●●●●●●
65. 34710737 c.1091A>G p.D364G missense 0.00000830●●●●●●
66. 34710700 c.1054G>T p.D352Y missense 0.00000830●●●●●●
67. 34706152 c.662G>C p.R221T missense 0.00000830●●●●●●
68. 34699909 c.491C>G p.S164C missense 0.00000829●●●●●●
69. 34706562 c.777A>C p.Q259H missense 0.00000829●●●●●●
70. 34710326 c.812G>A p.G271E missense 0.00000829●●●●●●
71. 34710713 c.1067C>T p.P356L missense 0.00000829●●●●●●
72. 34706560 c.775C>G p.Q259E missense 0.00000828●●●●●●
73. 34706148 c.658A>C p.T220P missense 0.00000828●●●●●●
74. 34706142 c.652G>T p.V218L missense 0.00000827●●●●●●
75. 34706143 c.653T>A p.V218E missense 0.00000827●●●●●●
76. 34706548 c.763G>T p.D255Y missense 0.00000827●●●●●●
77. 34699944 c.526C>G p.Q176E missense 0.00000826●●●●●●
78. 34699926 c.508A>G p.T170A missense 0.00000826●●●●●●
79. 34706052 c.562C>A p.P188T missense 0.00000826●●●●●●
80. 34712620 c.1345G>A p.E449K missense 0.00000826●●●●●●
81. 34710373 c.859G>A p.D287N missense 0.00000825●●●●●●
82. 34706519 c.734C>T p.S245L missense 0.00000825●●●●●●
83. 34710347 c.833G>A p.G278D missense 0.00000825●●●●●●
84. 34710380 c.866C>A p.P289Q missense 0.00000825●●●●●●
85. 34710361 c.847G>A p.G283S missense 0.00000825●●●●●●
86. 34706515 c.730G>C p.V244L missense 0.00000825●●●●●●
87. 34712609 c.1334G>T p.R445L missense 0.00000825●●●●●●
88. 34710368 c.854G>A p.R285Q missense 0.00000825●●●●●●
89. 34706515 c.730G>A p.V244I missense 0.00000825●●●●●●
90. 34685405 c.144C>G p.D48E missense 0.00000824●●●●●●
91. 34712591 c.1316G>A p.G439D missense 0.00000824●●●●●●
92. 34712590 c.1315G>T p.G439C missense 0.00000824●●●●●●
93. 34712486 c.1211G>A p.R404H missense 0.00000824●●●●●●
94. 34687591 c.338C>T p.P113L missense 0.00000824●●●●●●
95. 34685477 c.216T>G p.I72M missense 0.00000824●●●●●●
96. 34685524 c.263C>T p.P88L missense 0.00000824●●●●●●
97. 34712557 c.1282G>C p.G428R missense 0.00000824●●●●●●
98. 34687641 c.388G>T p.G130W missense 0.00000824●●●●●●
99. 34685431 c.170C>T p.P57L missense 0.00000824●●●●●●
100. 34712579 c.1304G>A p.R435Q missense 0.00000824●●●●●●
101. 34712492 c.1217G>A p.R406H missense 0.00000824●●●●●●
102. 34687608 c.355A>G p.T119A missense 0.00000824●●●●●●
103. 34685509 c.248C>T p.P83L missense 0.00000824●●●●●●
104. 34712578 c.1303C>G p.R435G missense 0.00000824●●●●●●
105. 34712543 c.1268G>T p.R423L missense 0.00000824●●●●●●
106. 34687660 c.407T>C p.V136A missense 0.00000824●●●●●●
107. 34685434 c.173G>A p.R58Q missense 0.00000824●●●●●●
108. 34706105 c.615C>G p.H205Q missense 0.00000824●●●●●●
109. 34706115 c.625C>G p.P209A missense 0.00000824●●●●●●
110. 34687612 c.359A>G p.Y120C missense 0.00000824●●●●●●
111. 34685410 c.149C>T p.P50L missense 0.00000824●●●●●●
112. 34687576 c.323T>C p.M108T missense 0.00000824●●●●●●
113. 34712582 c.1307G>T p.G436V missense 0.00000824●●●●●●
114. 34687638 c.385G>A p.V129I missense 0.00000824●●●●●●
115. 34685442 c.181G>A p.V61I missense 0.00000824●●●●●●
116. 34712531 c.1256G>A p.G419D missense 0.00000824●●●●●●
117. 34687614 c.361A>T p.S121C missense 0.00000824●●●●●●
118. 34685424 c.163A>G p.I55V 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.