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

* 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.