RBM20 non-truncating variants in ExAC

RBM20 gene summary
RBM20 variants in DCM

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 frequency▼Populations*
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. 112572484 c.2329G>A p.D777N missense 0.00004634●●●●●●
79. 112572493 c.2338G>A p.G780R missense 0.00009277●●●●●●
80. 112572512 c.2357A>G p.D786G missense 0.00004647●●●●●●
81. 112572517 c.2362G>T p.A788S missense 0.00009303●●●●●●
82. 112572517 c.2362G>A p.A788T missense 0.00004652●●●●●●
83. 112572548 c.2393C>T p.P798L missense 0.00009516●●●●●●
84. 112572571 c.2416G>A p.G806R missense 0.00005089●●●●●●
85. 112572607 c.2452G>A p.A818T missense 0.00006487●●●●●●
86. 112572617 c.2462A>G p.K821R missense 0.00007390●●●●●●
87. 112572619 c.2464C>A p.Q822K missense 0.00007590●●●●●●
88. 112572632 c.2477A>G p.N826S missense 0.00008581●●●●●●
89. 112572652 c.2497A>G p.R833G missense 0.00009804●●●●●●
90. 112579840 c.2561_2566delAGGAAC p.Gln856_Glu857del inframe 0.00009572●●●●●●
91. 112579858 c.2579A>G p.E860G missense 0.00009305●●●●●●
92. 112579897 c.2618C>G p.A873G missense 0.00004610●●●●●●
93. 112579912 c.2633C>T p.P878L missense 0.00004614●●●●●●
94. 112581050 c.2673T>G p.S891R missense 0.00004679●●●●●●
95. 112581081 c.2704C>A p.P902T missense 0.00004609●●●●●●
96. 112581138 c.2761A>G p.I921V missense 0.00009206●●●●●●
97. 112581203 c.2826C>G p.C942W missense 0.00004602●●●●●●
98. 112581207 c.2830G>A p.E944K missense 0.00004599●●●●●●
99. 112581216 c.2839C>A p.L947M missense 0.00004596●●●●●●
100. 112581232 c.2855C>T p.T952I missense 0.00004579●●●●●●
101. 112581282 c.2905G>A p.V969I missense 0.00009016●●●●●●
102. 112581282 c.2905G>T p.V969L missense 0.00004508●●●●●●
103. 112581374 c.2997G>A p.M999I missense 0.00004572●●●●●●
104. 112581394 c.3017C>T p.A1006V missense 0.00004594●●●●●●
105. 112581399 c.3022C>T p.R1008W missense 0.00004597●●●●●●
106. 112581408 c.3031G>C p.A1011P missense 0.00004599●●●●●●
107. 112581427 c.3050T>C p.L1017P missense 0.00004599●●●●●●
108. 112581469 c.3092G>T p.G1031V missense 0.00004596●●●●●●
109. 112581492 c.3115C>T p.P1039S missense 0.00009191●●●●●●
110. 112581502 c.3125C>T p.T1042I missense 0.00004593●●●●●●
111. 112581510 c.3133C>G p.Q1045E missense 0.00004593●●●●●●
112. 112581546 c.3169C>G p.R1057G missense 0.00004603●●●●●●
113. 112581589 c.3212C>T p.T1071I missense 0.00004613●●●●●●
114. 112581594 c.3217G>A p.E1073K missense 0.00004616●●●●●●
115. 112581603 c.3226G>T p.A1076S missense 0.00004617●●●●●●
116. 112581655 c.3278A>T p.D1093V missense 0.00004628●●●●●●
117. 112583252 c.3331G>A p.V1111M missense 0.00004665●●●●●●
118. 112583265 c.3344C>A p.S1115Y missense 0.00004631●●●●●●
119. 112583342 c.3421G>A p.D1141N missense 0.00004608●●●●●●
120. 112590845 c.3478G>A p.G1160S missense 0.00005054●●●●●●
121. 112590883 c.3516C>A p.S1172R missense 0.00005048●●●●●●
122. 112595647 c.3595G>A p.E1199K missense 0.00005086●●●●●●
123. 112595653 c.3601G>A p.G1201S missense 0.00005091●●●●●●
124. 112595668 c.3616G>A p.E1206K missense 0.00005104●●●●●●
125. 112595713 c.3661C>T p.R1221C missense 0.00005245●●●●●●
126. 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.