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