RBM45 variants in ExAC

RBM45 gene summary
RBM45 variants in

The table below lists the RBM45 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. 178988920 c.1135delA p.Ala382LeufsTer7 frameshift 0.00241180●●●●●●
2. 178988571 c.1000G>A p.A334T missense 0.00065431●●●●●●
3. 178977582 c.300+9G>C splice site 0.00049194●●●●●●
4. 178985115 c.652A>G p.R218G missense 0.00038872●●●●●●
5. 178981107 c.419T>G p.F140C missense 0.00031002●●●●●●
6. 178989026 c.1232+9_1232+10insT splice site 0.00019581●●●●●●
7. 178985143 c.673+7A>G splice site 0.00018291●●●●●●
8. 178977466 c.193T>C p.S65P missense 0.00017379●●●●●●
9. 178988570 c.999G>A p.M333I missense 0.00016566●●●●●●
10. 178990713 c.1235G>A p.R412H missense 0.00009942●●●●●●
11. 178988612 c.1041G>C p.W347C missense 0.00009920●●●●●●
12. 178988388 c.983+10A>G splice site 0.00008579●●●●●●
13. 178981097 c.409C>T p.R137W missense 0.00008324●●●●●●
14. 178985004 c.551-10G>T splice site 0.00008296●●●●●●
15. 178988917 c.1132T>G p.C378G missense 0.00008251●●●●●●
16. 178977325 c.52G>T p.D18Y missense 0.00007701●●●●●●
17. 178985902 c.674-5C>T splice site 0.00007560●●●●●●
18. 178977479 c.206C>G p.A69G missense 0.00007458●●●●●●
19. 178986065 c.832C>T p.R278X nonsense 0.00006815●●●●●●
20. 178988998 c.1213G>A p.V405I missense 0.00006741●●●●●●
21. 178981026 c.338G>A p.R113Q missense 0.00006609●●●●●●
22. 178977287 c.14G>A p.G5D missense 0.00005963●●●●●●
23. 178988336 c.941G>A p.R314Q missense 0.00005044●●●●●●
24. 178985948 c.715C>T p.R239X nonsense 0.00005025●●●●●●
25. 178982784 c.426G>A p.V142V splice site 0.00004979●●●●●●
26. 178988323 c.928C>G p.P310A missense 0.00004200●●●●●●
27. 178982775 c.424-7C>T splice site 0.00004174●●●●●●
28. 178981098 c.410G>A p.R137Q missense 0.00004163●●●●●●
29. 178982781 c.424-1G>A essential splice site 0.00004156●●●●●●
30. 178990791 c.1313C>G p.A438G missense 0.00004119●●●●●●
31. 178985897 c.674-10A>G splice site 0.00004007●●●●●●
32. 178977311 c.38T>C p.F13S missense 0.00003620●●●●●●
33. 178977275 c.2_3insGGC p.Met1_Asp2insAla inframe 0.00003446●●●●●●
34. 178988920 c.1135dupA p.Ala382SerfsTer4 frameshift 0.00003445●●●●●●
35. 178988327 c.932C>T p.P311L missense 0.00003361●●●●●●
36. 178985973 c.740G>A p.R247H missense 0.00003327●●●●●●
37. 178982875 c.517C>T p.Q173X nonsense 0.00003323●●●●●●
38. 178990778 c.1300G>A p.D434N missense 0.00003295●●●●●●
39. 178977577 c.300+4C>T splice site 0.00002622●●●●●●
40. 178977295 c.22G>C p.A8P missense 0.00002576●●●●●●
41. 178988287 c.892A>G p.I298V missense 0.00002575●●●●●●
42. 178988360 c.965A>T p.D322V missense 0.00002546●●●●●●
43. 178982906 c.548G>A p.R183Q missense 0.00002526●●●●●●
44. 178980984 c.301-5delC splice site 0.00002521●●●●●●
45. 178980985 c.301-4T>A splice site 0.00002517●●●●●●
46. 178982777 c.424-5C>T splice site 0.00002501●●●●●●
47. 178985972 c.739C>T p.R247C missense 0.00002495●●●●●●
48. 178988568 c.997A>G p.M333V missense 0.00002486●●●●●●
49. 178977376 c.103T>C p.Y35H missense 0.00002481●●●●●●
50. 178988926 c.1141A>T p.K381X nonsense 0.00002475●●●●●●
51. 178985903 c.674-4G>A splice site 0.00001864●●●●●●
52. 178988287 c.892A>T p.I298F missense 0.00001717●●●●●●
53. 178985932 c.699T>G p.F233L missense 0.00001699●●●●●●
54. 178982905 c.547C>T p.R183X nonsense 0.00001682●●●●●●
55. 178988339 c.944T>C p.I315T missense 0.00001682●●●●●●
56. 178985946 c.713G>A p.S238N missense 0.00001677●●●●●●
57. 178988856 c.1071A>G splice site 0.00001673●●●●●●
58. 178985949 c.716G>A p.R239Q missense 0.00001673●●●●●●
59. 178985958 c.725A>G p.E242G missense 0.00001666●●●●●●
60. 178986032 c.799A>G p.I267V missense 0.00001664●●●●●●
61. 178986029 c.796G>T p.D266Y missense 0.00001663●●●●●●
62. 178981094 c.406C>G p.L136V missense 0.00001662●●●●●●
63. 178985990 c.757A>G p.R253G missense 0.00001661●●●●●●
64. 178988562 c.991A>G p.R331G missense 0.00001659●●●●●●
65. 178977482 c.209_211delTCG p.Val71del inframe 0.00001659●●●●●●
66. 178982858 c.500G>A p.R167Q missense 0.00001657●●●●●●
67. 178988974 c.1189A>C p.N397H missense 0.00001656●●●●●●
68. 178982854 c.496G>A p.V166I missense 0.00001656●●●●●●
69. 178985040 c.577delA p.Asn194IlefsTer15 frameshift 0.00001654●●●●●●
70. 178981083 c.395C>G p.T132R missense 0.00001653●●●●●●
71. 178988604 c.1033A>G p.M345V missense 0.00001653●●●●●●
72. 178988905 c.1120G>A p.V374I missense 0.00001651●●●●●●
73. 178988902 c.1117G>A p.V373I missense 0.00001651●●●●●●
74. 178981065 c.377T>C p.M126T missense 0.00001651●●●●●●
75. 178990863 c.1385C>T p.S462L missense 0.00001649●●●●●●
76. 178977302 c.29G>T p.G10V missense 0.00000963●●●●●●
77. 178985900 c.674-7G>A splice site 0.00000963●●●●●●
78. 178988250 c.855T>G splice site 0.00000893●●●●●●
79. 178977316 c.43C>T p.P15S missense 0.00000890●●●●●●
80. 178977317 c.44C>G p.P15R missense 0.00000888●●●●●●
81. 178988258 c.863T>C p.V288A missense 0.00000888●●●●●●
82. 178977317 c.44C>T p.P15L missense 0.00000888●●●●●●
83. 178985915 c.682T>C p.S228P missense 0.00000879●●●●●●
84. 178977298 c.25A>G p.S9G missense 0.00000865●●●●●●
85. 178989016 c.1231T>C p.C411R missense 0.00000864●●●●●●
86. 178989015 c.1230C>T splice site 0.00000863●●●●●●
87. 178986072 c.839C>G p.P280R missense 0.00000862●●●●●●
88. 178989009 c.1224T>A p.D408E missense 0.00000856●●●●●●
89. 178988290 c.895T>G p.Y299D missense 0.00000855●●●●●●
90. 178985929 c.696T>G p.S232R missense 0.00000854●●●●●●
91. 178985929 c.696T>A p.S232R missense 0.00000854●●●●●●
92. 178989007 c.1222G>A p.D408N missense 0.00000852●●●●●●
93. 178977566 c.293C>G p.P98R missense 0.00000852●●●●●●
94. 178985931 c.698T>C p.F233S missense 0.00000851●●●●●●
95. 178985934 c.701A>G p.D234G missense 0.00000847●●●●●●
96. 178977334 c.61G>A p.D21N missense 0.00000845●●●●●●
97. 178977556 c.283G>A p.D95N missense 0.00000844●●●●●●
98. 178977554 c.281A>C p.N94T missense 0.00000843●●●●●●
99. 178977554 c.281A>G p.N94S missense 0.00000843●●●●●●
100. 178988344 c.949G>A p.V317I missense 0.00000843●●●●●●
101. 178988998 c.1213G>T p.V405L missense 0.00000843●●●●●●
102. 178990909 c.*6G>A splice site 0.00000841●●●●●●
103. 178988340 c.945A>G p.I315M missense 0.00000841●●●●●●
104. 178986055 c.822T>G p.C274W missense 0.00000841●●●●●●
105. 178988326 c.931C>T p.P311S missense 0.00000840●●●●●●
106. 178988858 c.1073T>G p.F358C missense 0.00000836●●●●●●
107. 178977529 c.256A>T p.M86L missense 0.00000835●●●●●●
108. 178977528 c.255G>T p.E85D missense 0.00000834●●●●●●
109. 178986028 c.795T>G p.F265L missense 0.00000832●●●●●●
110. 178988644 c.1068+5G>A splice site 0.00000832●●●●●●
111. 178988869 c.1084T>C p.S362P missense 0.00000831●●●●●●
112. 178982782 c.424G>A p.V142M missense 0.00000831●●●●●●
113. 178986021 c.788G>A p.S263N missense 0.00000831●●●●●●
114. 178985989 c.756_757delAA p.Arg253SerfsTer5 frameshift 0.00000831●●●●●●
115. 178988983 c.1198_1199delCC p.Pro400PhefsTer15 frameshift 0.00000831●●●●●●
116. 178985984 c.751G>C p.V251L missense 0.00000831●●●●●●
117. 178981004 c.316T>C p.S106P missense 0.00000830●●●●●●
118. 178988556 c.985C>T p.L329F missense 0.00000830●●●●●●
119. 178986011 c.778C>T p.Q260X nonsense 0.00000830●●●●●●
120. 178985008 c.551-6T>C splice site 0.00000829●●●●●●
121. 178981008 c.320G>A p.R107Q missense 0.00000829●●●●●●
122. 178977475 c.202A>T p.I68F missense 0.00000828●●●●●●
123. 178988572 c.1001C>T p.A334V missense 0.00000828●●●●●●
124. 178981085 c.397G>A p.E133K missense 0.00000827●●●●●●
125. 178990880 c.1402A>T p.N468Y missense 0.00000827●●●●●●
126. 178985040 c.577A>G p.K193E missense 0.00000827●●●●●●
127. 178988611 c.1040G>A p.W347X nonsense 0.00000827●●●●●●
128. 178985086 c.623T>C p.M208T missense 0.00000827●●●●●●
129. 178982801 c.443A>T p.Y148F missense 0.00000827●●●●●●
130. 178977379 c.106_111delACACCT p.Thr36_Pro37del inframe 0.00000827●●●●●●
131. 178985107 c.644A>G p.H215R missense 0.00000827●●●●●●
132. 178981017 c.329G>T p.G110V missense 0.00000827●●●●●●
133. 178988578 c.1007A>G p.Q336R missense 0.00000827●●●●●●
134. 178988583 c.1012_1013insTAGC p.Ala340SerfsTer11 frameshift 0.00000827●●●●●●
135. 178985059 c.596C>T p.S199F missense 0.00000827●●●●●●
136. 178990718 c.1240G>A p.G414S missense 0.00000827●●●●●●
137. 178988953 c.1168G>T p.E390X nonsense 0.00000826●●●●●●
138. 178988949 c.1164_1167delGAAA p.Glu390AspfsTer13 frameshift 0.00000826●●●●●●
139. 178977425 c.152T>C p.I51T missense 0.00000826●●●●●●
140. 178988960 c.1175_1177delTTT p.Phe393del inframe 0.00000826●●●●●●
141. 178977439 c.166G>A p.V56M missense 0.00000826●●●●●●
142. 178985091 c.628C>A p.Q210K missense 0.00000826●●●●●●
143. 178982821 c.463A>T p.K155X nonsense 0.00000826●●●●●●
144. 178981038 c.350A>G p.D117G missense 0.00000826●●●●●●
145. 178977419 c.146G>A p.G49D missense 0.00000826●●●●●●
146. 178981046 c.358C>T p.L120F missense 0.00000825●●●●●●
147. 178988929 c.1144G>C p.A382P missense 0.00000825●●●●●●
148. 178990736 c.1258T>C p.Y420H missense 0.00000825●●●●●●
149. 178990854 c.1376T>C p.L459P missense 0.00000824●●●●●●
150. 178990755 c.1277A>C p.N426T missense 0.00000824●●●●●●
151. 178990817 c.1339G>A p.G447R missense 0.00000824●●●●●●
152. 178990764 c.1286A>G p.Y429C 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.