RBM45 missense variants in ExAC

RBM45 gene summary
RBM45 variants in

The table below lists the RBM45 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. 178988571 c.1000G>A p.A334T missense 0.00065431●●●●●●
2. 178985115 c.652A>G p.R218G missense 0.00038872●●●●●●
3. 178981107 c.419T>G p.F140C missense 0.00031002●●●●●●
4. 178977466 c.193T>C p.S65P missense 0.00017379●●●●●●
5. 178988570 c.999G>A p.M333I missense 0.00016566●●●●●●
6. 178990713 c.1235G>A p.R412H missense 0.00009942●●●●●●
7. 178988612 c.1041G>C p.W347C missense 0.00009920●●●●●●
8. 178981097 c.409C>T p.R137W missense 0.00008324●●●●●●
9. 178988917 c.1132T>G p.C378G missense 0.00008251●●●●●●
10. 178977325 c.52G>T p.D18Y missense 0.00007701●●●●●●
11. 178977479 c.206C>G p.A69G missense 0.00007458●●●●●●
12. 178988998 c.1213G>A p.V405I missense 0.00006741●●●●●●
13. 178981026 c.338G>A p.R113Q missense 0.00006609●●●●●●
14. 178977287 c.14G>A p.G5D missense 0.00005963●●●●●●
15. 178988336 c.941G>A p.R314Q missense 0.00005044●●●●●●
16. 178988323 c.928C>G p.P310A missense 0.00004200●●●●●●
17. 178981098 c.410G>A p.R137Q missense 0.00004163●●●●●●
18. 178990791 c.1313C>G p.A438G missense 0.00004119●●●●●●
19. 178977311 c.38T>C p.F13S missense 0.00003620●●●●●●
20. 178988327 c.932C>T p.P311L missense 0.00003361●●●●●●
21. 178985973 c.740G>A p.R247H missense 0.00003327●●●●●●
22. 178990778 c.1300G>A p.D434N missense 0.00003295●●●●●●
23. 178977295 c.22G>C p.A8P missense 0.00002576●●●●●●
24. 178988287 c.892A>G p.I298V missense 0.00002575●●●●●●
25. 178988360 c.965A>T p.D322V missense 0.00002546●●●●●●
26. 178982906 c.548G>A p.R183Q missense 0.00002526●●●●●●
27. 178985972 c.739C>T p.R247C missense 0.00002495●●●●●●
28. 178988568 c.997A>G p.M333V missense 0.00002486●●●●●●
29. 178977376 c.103T>C p.Y35H missense 0.00002481●●●●●●
30. 178988287 c.892A>T p.I298F missense 0.00001717●●●●●●
31. 178985932 c.699T>G p.F233L missense 0.00001699●●●●●●
32. 178988339 c.944T>C p.I315T missense 0.00001682●●●●●●
33. 178985946 c.713G>A p.S238N missense 0.00001677●●●●●●
34. 178985949 c.716G>A p.R239Q missense 0.00001673●●●●●●
35. 178985958 c.725A>G p.E242G missense 0.00001666●●●●●●
36. 178986032 c.799A>G p.I267V missense 0.00001664●●●●●●
37. 178986029 c.796G>T p.D266Y missense 0.00001663●●●●●●
38. 178981094 c.406C>G p.L136V missense 0.00001662●●●●●●
39. 178985990 c.757A>G p.R253G missense 0.00001661●●●●●●
40. 178988562 c.991A>G p.R331G missense 0.00001659●●●●●●
41. 178982858 c.500G>A p.R167Q missense 0.00001657●●●●●●
42. 178988974 c.1189A>C p.N397H missense 0.00001656●●●●●●
43. 178982854 c.496G>A p.V166I missense 0.00001656●●●●●●
44. 178981083 c.395C>G p.T132R missense 0.00001653●●●●●●
45. 178988604 c.1033A>G p.M345V missense 0.00001653●●●●●●
46. 178988902 c.1117G>A p.V373I missense 0.00001651●●●●●●
47. 178988905 c.1120G>A p.V374I missense 0.00001651●●●●●●
48. 178981065 c.377T>C p.M126T missense 0.00001651●●●●●●
49. 178990863 c.1385C>T p.S462L missense 0.00001649●●●●●●
50. 178977302 c.29G>T p.G10V missense 0.00000963●●●●●●
51. 178977316 c.43C>T p.P15S missense 0.00000890●●●●●●
52. 178988258 c.863T>C p.V288A missense 0.00000888●●●●●●
53. 178977317 c.44C>T p.P15L missense 0.00000888●●●●●●
54. 178977317 c.44C>G p.P15R missense 0.00000888●●●●●●
55. 178985915 c.682T>C p.S228P missense 0.00000879●●●●●●
56. 178977298 c.25A>G p.S9G missense 0.00000865●●●●●●
57. 178989016 c.1231T>C p.C411R missense 0.00000864●●●●●●
58. 178986072 c.839C>G p.P280R missense 0.00000862●●●●●●
59. 178989009 c.1224T>A p.D408E missense 0.00000856●●●●●●
60. 178988290 c.895T>G p.Y299D missense 0.00000855●●●●●●
61. 178985929 c.696T>G p.S232R missense 0.00000854●●●●●●
62. 178985929 c.696T>A p.S232R missense 0.00000854●●●●●●
63. 178977566 c.293C>G p.P98R missense 0.00000852●●●●●●
64. 178989007 c.1222G>A p.D408N missense 0.00000852●●●●●●
65. 178985931 c.698T>C p.F233S missense 0.00000851●●●●●●
66. 178985934 c.701A>G p.D234G missense 0.00000847●●●●●●
67. 178977334 c.61G>A p.D21N missense 0.00000845●●●●●●
68. 178977556 c.283G>A p.D95N missense 0.00000844●●●●●●
69. 178988344 c.949G>A p.V317I missense 0.00000843●●●●●●
70. 178977554 c.281A>C p.N94T missense 0.00000843●●●●●●
71. 178988998 c.1213G>T p.V405L missense 0.00000843●●●●●●
72. 178977554 c.281A>G p.N94S missense 0.00000843●●●●●●
73. 178986055 c.822T>G p.C274W missense 0.00000841●●●●●●
74. 178988340 c.945A>G p.I315M missense 0.00000841●●●●●●
75. 178988326 c.931C>T p.P311S missense 0.00000840●●●●●●
76. 178988858 c.1073T>G p.F358C missense 0.00000836●●●●●●
77. 178977529 c.256A>T p.M86L missense 0.00000835●●●●●●
78. 178977528 c.255G>T p.E85D missense 0.00000834●●●●●●
79. 178986028 c.795T>G p.F265L missense 0.00000832●●●●●●
80. 178988869 c.1084T>C p.S362P missense 0.00000831●●●●●●
81. 178986021 c.788G>A p.S263N missense 0.00000831●●●●●●
82. 178982782 c.424G>A p.V142M missense 0.00000831●●●●●●
83. 178985984 c.751G>C p.V251L missense 0.00000831●●●●●●
84. 178981004 c.316T>C p.S106P missense 0.00000830●●●●●●
85. 178988556 c.985C>T p.L329F missense 0.00000830●●●●●●
86. 178981008 c.320G>A p.R107Q missense 0.00000829●●●●●●
87. 178988572 c.1001C>T p.A334V missense 0.00000828●●●●●●
88. 178977475 c.202A>T p.I68F missense 0.00000828●●●●●●
89. 178990718 c.1240G>A p.G414S missense 0.00000827●●●●●●
90. 178985086 c.623T>C p.M208T missense 0.00000827●●●●●●
91. 178988578 c.1007A>G p.Q336R missense 0.00000827●●●●●●
92. 178985040 c.577A>G p.K193E missense 0.00000827●●●●●●
93. 178981085 c.397G>A p.E133K missense 0.00000827●●●●●●
94. 178985059 c.596C>T p.S199F missense 0.00000827●●●●●●
95. 178981017 c.329G>T p.G110V missense 0.00000827●●●●●●
96. 178985107 c.644A>G p.H215R missense 0.00000827●●●●●●
97. 178990880 c.1402A>T p.N468Y missense 0.00000827●●●●●●
98. 178982801 c.443A>T p.Y148F missense 0.00000827●●●●●●
99. 178977439 c.166G>A p.V56M missense 0.00000826●●●●●●
100. 178981038 c.350A>G p.D117G missense 0.00000826●●●●●●
101. 178985091 c.628C>A p.Q210K missense 0.00000826●●●●●●
102. 178977419 c.146G>A p.G49D missense 0.00000826●●●●●●
103. 178977425 c.152T>C p.I51T missense 0.00000826●●●●●●
104. 178981046 c.358C>T p.L120F missense 0.00000825●●●●●●
105. 178990736 c.1258T>C p.Y420H missense 0.00000825●●●●●●
106. 178988929 c.1144G>C p.A382P missense 0.00000825●●●●●●
107. 178990755 c.1277A>C p.N426T missense 0.00000824●●●●●●
108. 178990817 c.1339G>A p.G447R missense 0.00000824●●●●●●
109. 178990764 c.1286A>G p.Y429C missense 0.00000824●●●●●●
110. 178990854 c.1376T>C p.L459P 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.