RBM20 protein-altering variants in ExAC


The table below lists the RBM20 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. 112583252 c.3331G>A p.V1111M missense 0.00004665
2. 112595713 c.3661C>T p.R1221C missense 0.00005245
3. 112595668 c.3616G>A p.E1206K missense 0.00005104
4. 112540848 c.481A>C p.S161R missense 0.00004579
5. 112540809 c.442G>A p.G148S missense 0.00004577
6. 112540934 c.567G>T p.Q189H missense 0.00004984
7. 112541418 c.1051G>A p.D351N missense 0.00009692
8. 112544110 c.1349G>T p.R450L missense 0.00005097
9. 112559642 c.1766G>T p.R589L missense 0.00004415
10. 112572619 c.2464C>A p.Q822K missense 0.00007590
11. 112572652 c.2497A>G p.R833G missense 0.00009804
12. 112579897 c.2618C>G p.A873G missense 0.00004610
13. 112581282 c.2905G>A p.V969I missense 0.00009016
14. 112590845 c.3478G>A p.G1160S missense 0.00005054
15. 112541128 c.761C>T p.S254L missense 0.00005085
16. 112544579 c.1459G>A p.V487M missense 0.00005045
17. 112570154 c.1814C>T p.A605V missense 0.00004616
18. 112557267 c.1529T>C p.F510S missense 0.00009390
19. 112579912 c.2633C>T p.P878L missense 0.00004614
20. 112404248 c.36C>A p.D12E missense 0.00009480
21. 112404254 c.42C>G p.S14R missense 0.00009388
22. 112540900 c.533G>A p.R178Q missense 0.00009730
23. 112540908 c.541G>A p.G181R missense 0.00004896
24. 112540922 c.555C>A p.N185K missense 0.00004930
25. 112541142 c.775G>T p.G259C missense 0.00005086
26. 112541503 c.1136G>A p.G379E missense 0.00004567
27. 112541505 c.1138C>T p.R380W missense 0.00009134
28. 112544634 c.1514C>T p.S505F missense 0.00005054
29. 112570147 c.1807G>A p.G603R missense 0.00004617
30. 112570198 c.1858G>A p.D620N missense 0.00009256
31. 112572224 c.2069C>G p.P690R missense 0.00005065
32. 112572308 c.2153T>C p.L718P missense 0.00004999
33. 112572437 c.2282G>A p.R761Q missense 0.00004686
34. 112572512 c.2357A>G p.D786G missense 0.00004647
35. 112581138 c.2761A>G p.I921V missense 0.00009206
36. 112581394 c.3017C>T p.A1006V missense 0.00004594
37. 112404315 c.103C>T p.P35S missense 0.00009954
38. 112540680 c.313C>G p.L105V missense 0.00004608
39. 112540754 c.387G>A p.M129I missense 0.00004609
40. 112540845 c.478C>G p.P160A missense 0.00004574
41. 112540980 c.613C>A p.Q205K missense 0.00005093
42. 112541008 c.641T>C p.L214S missense 0.00005106
43. 112541077 c.710G>T p.G237V missense 0.00005090
44. 112541091 c.724C>T p.P242S missense 0.00005087
45. 112541109 c.742C>A p.P248T missense 0.00005086
46. 112541140 c.773C>T p.S258L missense 0.00005089
47. 112541210 c.843T>A p.D281E missense 0.00005104
48. 112541233 c.866G>T p.G289V missense 0.00005112
49. 112541269 c.902C>T p.A301V missense 0.00005100
50. 112541275 c.908G>C p.G303A missense 0.00005098
51. 112541344 c.977C>T p.S326L missense 0.00004941
52. 112541371 c.1004C>T p.A335V missense 0.00004901
53. 112541381 c.1014G>A p.M338I missense 0.00004882
54. 112541487 c.1120G>T p.G374C missense 0.00004587
55. 112541506 c.1139G>A p.R380Q missense 0.00004569
56. 112541511 c.1144G>T p.A382S missense 0.00004563
57. 112541542 c.1175G>A p.R392Q missense 0.00004581
58. 112541545 c.1178C>G p.P393R missense 0.00004581
59. 112543158 c.1310C>A p.A437D missense 0.00004456
60. 112543160 c.1312C>G p.Q438E missense 0.00004458
61. 112544119 c.1358T>G p.L453R missense 0.00005088
62. 112544121 c.1360G>T p.G454C missense 0.00005088
63. 112544161 c.1400C>G p.T467R missense 0.00005076
64. 112544185 c.1424A>G p.N475S missense 0.00005083
65. 112544564 c.1444C>G p.L482V missense 0.00005045
66. 112544574 c.1454C>T p.S485L missense 0.00005045
67. 112557275 c.1537C>T p.R513W missense 0.00004660
68. 112557371 c.1633G>A p.V545I missense 0.00004516
69. 112559588 c.1712T>G p.V571G missense 0.00004472
70. 112559638 c.1762A>G p.I588V missense 0.00004414
71. 112559642 c.1766G>A p.R589Q missense 0.00004415
72. 112572051 c.1896G>C p.R632S missense 0.00007135
73. 112572053 c.1898C>T p.P633L missense 0.00006948
74. 112572076 c.1921C>T p.R641W missense 0.00005912
75. 112572086 c.1931C>G p.S644C missense 0.00005795
76. 112572089 c.1934C>T p.P645L missense 0.00005747
77. 112572130 c.1975C>T p.H659Y missense 0.00005636
78. 112572139 c.1984C>T p.P662S missense 0.00005638
79. 112572149 c.1994C>G p.S665C missense 0.00005565
80. 112572154 c.1999G>C p.A667P missense 0.00005521
81. 112572172 c.2017C>T p.R673W missense 0.00005395
82. 112572218 c.2063G>A p.R688Q missense 0.00005078
83. 112572278 c.2123C>G p.A708G missense 0.00005016
84. 112572323 c.2168T>C p.L723S missense 0.00009981
85. 112572332 c.2177G>T p.R726L missense 0.00004971
86. 112572386 c.2231A>G p.N744S missense 0.00004791
87. 112572418 c.2263C>T p.R755C missense 0.00004717
88. 112572454 c.2299A>G p.K767E missense 0.00004662
89. 112572456 c.2301G>T p.K767N missense 0.00004659
90. 112572484 c.2329G>A p.D777N missense 0.00004634
91. 112572493 c.2338G>A p.G780R missense 0.00009277
92. 112572517 c.2362G>T p.A788S missense 0.00009303
93. 112572517 c.2362G>A p.A788T missense 0.00004652
94. 112572548 c.2393C>T p.P798L missense 0.00009516
95. 112572571 c.2416G>A p.G806R missense 0.00005089
96. 112572607 c.2452G>A p.A818T missense 0.00006487
97. 112572617 c.2462A>G p.K821R missense 0.00007390
98. 112572632 c.2477A>G p.N826S missense 0.00008581
99. 112579858 c.2579A>G p.E860G missense 0.00009305
100. 112581050 c.2673T>G p.S891R missense 0.00004679
101. 112581081 c.2704C>A p.P902T missense 0.00004609
102. 112581203 c.2826C>G p.C942W missense 0.00004602
103. 112581207 c.2830G>A p.E944K missense 0.00004599
104. 112581216 c.2839C>A p.L947M missense 0.00004596
105. 112581232 c.2855C>T p.T952I missense 0.00004579
106. 112581282 c.2905G>T p.V969L missense 0.00004508
107. 112581374 c.2997G>A p.M999I missense 0.00004572
108. 112581399 c.3022C>T p.R1008W missense 0.00004597
109. 112581408 c.3031G>C p.A1011P missense 0.00004599
110. 112581427 c.3050T>C p.L1017P missense 0.00004599
111. 112581469 c.3092G>T p.G1031V missense 0.00004596
112. 112581492 c.3115C>T p.P1039S missense 0.00009191
113. 112581502 c.3125C>T p.T1042I missense 0.00004593
114. 112581510 c.3133C>G p.Q1045E missense 0.00004593
115. 112581546 c.3169C>G p.R1057G missense 0.00004603
116. 112581589 c.3212C>T p.T1071I missense 0.00004613
117. 112581594 c.3217G>A p.E1073K missense 0.00004616
118. 112581603 c.3226G>T p.A1076S missense 0.00004617
119. 112581655 c.3278A>T p.D1093V missense 0.00004628
120. 112583265 c.3344C>A p.S1115Y missense 0.00004631
121. 112583342 c.3421G>A p.D1141N missense 0.00004608
122. 112590883 c.3516C>A p.S1172R missense 0.00005048
123. 112595647 c.3595G>A p.E1199K missense 0.00005086
124. 112595653 c.3601G>A p.G1201S missense 0.00005091
125. 112595719 c.3667G>A p.E1223K missense 0.00005252
126. 112572459 c.2304G>A p.W768X nonsense 0.00009244
127. 112579840 c.2561_2566delAGGAAC p.Gln856_Glu857del inframe 0.00009572

* 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.