RBM20 non-truncating variants in ExAC


The table below lists the RBM20 non-truncating 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. 112572323 c.2168T>C p.L723S missense 0.00009981
2. 112404315 c.103C>T p.P35S missense 0.00009954
3. 112572652 c.2497A>G p.R833G missense 0.00009804
4. 112540900 c.533G>A p.R178Q missense 0.00009730
5. 112541418 c.1051G>A p.D351N missense 0.00009692
6. 112579840 c.2561_2566delAGGAAC p.Gln856_Glu857del inframe 0.00009572
7. 112572548 c.2393C>T p.P798L missense 0.00009516
8. 112404248 c.36C>A p.D12E missense 0.00009480
9. 112557267 c.1529T>C p.F510S missense 0.00009390
10. 112404254 c.42C>G p.S14R missense 0.00009388
11. 112579858 c.2579A>G p.E860G missense 0.00009305
12. 112572517 c.2362G>T p.A788S missense 0.00009303
13. 112572493 c.2338G>A p.G780R missense 0.00009277
14. 112570198 c.1858G>A p.D620N missense 0.00009256
15. 112581138 c.2761A>G p.I921V missense 0.00009206
16. 112581492 c.3115C>T p.P1039S missense 0.00009191
17. 112541505 c.1138C>T p.R380W missense 0.00009134
18. 112581282 c.2905G>A p.V969I missense 0.00009016
19. 112572632 c.2477A>G p.N826S missense 0.00008581
20. 112572619 c.2464C>A p.Q822K missense 0.00007590
21. 112572617 c.2462A>G p.K821R missense 0.00007390
22. 112572051 c.1896G>C p.R632S missense 0.00007135
23. 112572053 c.1898C>T p.P633L missense 0.00006948
24. 112572607 c.2452G>A p.A818T missense 0.00006487
25. 112572076 c.1921C>T p.R641W missense 0.00005912
26. 112572086 c.1931C>G p.S644C missense 0.00005795
27. 112572089 c.1934C>T p.P645L missense 0.00005747
28. 112572139 c.1984C>T p.P662S missense 0.00005638
29. 112572130 c.1975C>T p.H659Y missense 0.00005636
30. 112572149 c.1994C>G p.S665C missense 0.00005565
31. 112572154 c.1999G>C p.A667P missense 0.00005521
32. 112572172 c.2017C>T p.R673W missense 0.00005395
33. 112595719 c.3667G>A p.E1223K missense 0.00005252
34. 112595713 c.3661C>T p.R1221C missense 0.00005245
35. 112541233 c.866G>T p.G289V missense 0.00005112
36. 112541008 c.641T>C p.L214S missense 0.00005106
37. 112595668 c.3616G>A p.E1206K missense 0.00005104
38. 112541210 c.843T>A p.D281E missense 0.00005104
39. 112541269 c.902C>T p.A301V missense 0.00005100
40. 112541275 c.908G>C p.G303A missense 0.00005098
41. 112544110 c.1349G>T p.R450L missense 0.00005097
42. 112540980 c.613C>A p.Q205K missense 0.00005093
43. 112595653 c.3601G>A p.G1201S missense 0.00005091
44. 112541077 c.710G>T p.G237V missense 0.00005090
45. 112541140 c.773C>T p.S258L missense 0.00005089
46. 112572571 c.2416G>A p.G806R missense 0.00005089
47. 112544119 c.1358T>G p.L453R missense 0.00005088
48. 112544121 c.1360G>T p.G454C missense 0.00005088
49. 112541091 c.724C>T p.P242S missense 0.00005087
50. 112595647 c.3595G>A p.E1199K missense 0.00005086
51. 112541109 c.742C>A p.P248T missense 0.00005086
52. 112541142 c.775G>T p.G259C missense 0.00005086
53. 112541128 c.761C>T p.S254L missense 0.00005085
54. 112544185 c.1424A>G p.N475S missense 0.00005083
55. 112572218 c.2063G>A p.R688Q missense 0.00005078
56. 112544161 c.1400C>G p.T467R missense 0.00005076
57. 112572224 c.2069C>G p.P690R missense 0.00005065
58. 112590845 c.3478G>A p.G1160S missense 0.00005054
59. 112544634 c.1514C>T p.S505F missense 0.00005054
60. 112590883 c.3516C>A p.S1172R missense 0.00005048
61. 112544579 c.1459G>A p.V487M missense 0.00005045
62. 112544574 c.1454C>T p.S485L missense 0.00005045
63. 112544564 c.1444C>G p.L482V missense 0.00005045
64. 112572278 c.2123C>G p.A708G missense 0.00005016
65. 112572308 c.2153T>C p.L718P missense 0.00004999
66. 112540934 c.567G>T p.Q189H missense 0.00004984
67. 112572332 c.2177G>T p.R726L missense 0.00004971
68. 112541344 c.977C>T p.S326L missense 0.00004941
69. 112540922 c.555C>A p.N185K missense 0.00004930
70. 112541371 c.1004C>T p.A335V missense 0.00004901
71. 112540908 c.541G>A p.G181R missense 0.00004896
72. 112541381 c.1014G>A p.M338I missense 0.00004882
73. 112572386 c.2231A>G p.N744S missense 0.00004791
74. 112572418 c.2263C>T p.R755C missense 0.00004717
75. 112572437 c.2282G>A p.R761Q missense 0.00004686
76. 112581050 c.2673T>G p.S891R missense 0.00004679
77. 112583252 c.3331G>A p.V1111M missense 0.00004665
78. 112572454 c.2299A>G p.K767E missense 0.00004662
79. 112557275 c.1537C>T p.R513W missense 0.00004660
80. 112572456 c.2301G>T p.K767N missense 0.00004659
81. 112572517 c.2362G>A p.A788T missense 0.00004652
82. 112572512 c.2357A>G p.D786G missense 0.00004647
83. 112572484 c.2329G>A p.D777N missense 0.00004634
84. 112583265 c.3344C>A p.S1115Y missense 0.00004631
85. 112581655 c.3278A>T p.D1093V missense 0.00004628
86. 112570147 c.1807G>A p.G603R missense 0.00004617
87. 112581603 c.3226G>T p.A1076S missense 0.00004617
88. 112581594 c.3217G>A p.E1073K missense 0.00004616
89. 112570154 c.1814C>T p.A605V missense 0.00004616
90. 112579912 c.2633C>T p.P878L missense 0.00004614
91. 112581589 c.3212C>T p.T1071I missense 0.00004613
92. 112579897 c.2618C>G p.A873G missense 0.00004610
93. 112540754 c.387G>A p.M129I missense 0.00004609
94. 112581081 c.2704C>A p.P902T missense 0.00004609
95. 112583342 c.3421G>A p.D1141N missense 0.00004608
96. 112540680 c.313C>G p.L105V missense 0.00004608
97. 112581546 c.3169C>G p.R1057G missense 0.00004603
98. 112581203 c.2826C>G p.C942W missense 0.00004602
99. 112581408 c.3031G>C p.A1011P missense 0.00004599
100. 112581207 c.2830G>A p.E944K missense 0.00004599
101. 112581427 c.3050T>C p.L1017P missense 0.00004599
102. 112581399 c.3022C>T p.R1008W missense 0.00004597
103. 112581216 c.2839C>A p.L947M missense 0.00004596
104. 112581469 c.3092G>T p.G1031V missense 0.00004596
105. 112581394 c.3017C>T p.A1006V missense 0.00004594
106. 112581502 c.3125C>T p.T1042I missense 0.00004593
107. 112581510 c.3133C>G p.Q1045E missense 0.00004593
108. 112541487 c.1120G>T p.G374C missense 0.00004587
109. 112541542 c.1175G>A p.R392Q missense 0.00004581
110. 112541545 c.1178C>G p.P393R missense 0.00004581
111. 112540848 c.481A>C p.S161R missense 0.00004579
112. 112581232 c.2855C>T p.T952I missense 0.00004579
113. 112540809 c.442G>A p.G148S missense 0.00004577
114. 112540845 c.478C>G p.P160A missense 0.00004574
115. 112581374 c.2997G>A p.M999I missense 0.00004572
116. 112541506 c.1139G>A p.R380Q missense 0.00004569
117. 112541503 c.1136G>A p.G379E missense 0.00004567
118. 112541511 c.1144G>T p.A382S missense 0.00004563
119. 112557371 c.1633G>A p.V545I missense 0.00004516
120. 112581282 c.2905G>T p.V969L missense 0.00004508
121. 112559588 c.1712T>G p.V571G missense 0.00004472
122. 112543160 c.1312C>G p.Q438E missense 0.00004458
123. 112543158 c.1310C>A p.A437D missense 0.00004456
124. 112559642 c.1766G>T p.R589L missense 0.00004415
125. 112559642 c.1766G>A p.R589Q missense 0.00004415
126. 112559638 c.1762A>G p.I588V missense 0.00004414

* 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.