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 frequency▼ | Populations* |
---|---|---|---|---|---|---|
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. | 112572571 | c.2416G>A | p.G806R | missense | 0.00005089 | ●●●●●● |
47. | 112541140 | c.773C>T | p.S258L | 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. | 112541109 | c.742C>A | p.P248T | missense | 0.00005086 | ●●●●●● |
53. | 112595647 | c.3595G>A | p.E1199K | 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. | 112544574 | c.1454C>T | p.S485L | missense | 0.00005045 | ●●●●●● |
64. | 112544579 | c.1459G>A | p.V487M | 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. | 112581603 | c.3226G>T | p.A1076S | missense | 0.00004617 | ●●●●●● |
88. | 112570147 | c.1807G>A | p.G603R | missense | 0.00004617 | ●●●●●● |
89. | 112581594 | c.3217G>A | p.E1073K | missense | 0.00004616 | ●●●●●● |
90. | 112570154 | c.1814C>T | p.A605V | 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. | 112581081 | c.2704C>A | p.P902T | missense | 0.00004609 | ●●●●●● |
95. | 112540754 | c.387G>A | p.M129I | 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. | 112581408 | c.3031G>C | p.A1011P | missense | 0.00004599 | ●●●●●● |
101. | 112581207 | c.2830G>A | p.E944K | missense | 0.00004599 | ●●●●●● |
102. | 112581427 | c.3050T>C | p.L1017P | missense | 0.00004599 | ●●●●●● |
103. | 112581399 | c.3022C>T | p.R1008W | missense | 0.00004597 | ●●●●●● |
104. | 112581216 | c.2839C>A | p.L947M | missense | 0.00004596 | ●●●●●● |
105. | 112581469 | c.3092G>T | p.G1031V | 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.