CSRP3 protein-altering variants in ExAC


The table below lists the CSRP3 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. 19213974 c.22G>A p.A8T missense 0.00001649
2. 19209828 c.136A>C p.S46R missense 0.00003308
3. 19209816 c.148G>A p.A50T missense 0.00004132
4. 19209774 c.190C>T p.R64C missense 0.00002473
5. 19209767 c.197A>G p.Y66C missense 0.00000824
6. 19209758 c.206A>G p.K69R missense 0.00001648
7. 19209750 c.214G>A p.G72R missense 0.00003297
8. 19209735 c.229G>A p.A77T missense 0.00001648
9. 19209692 c.272A>T p.Q91L missense 0.00000824
10. 19204258 c.544G>C p.G182R missense 0.00003295
11. 19204226 c.576G>C p.K192N missense 0.00001647
12. 19204234 c.568G>T p.V190L missense 0.00008237
13. 19204266 c.536C>T p.T179M missense 0.00002471
14. 19206511 c.496C>G p.L166V missense 0.00000824
15. 19207798 c.379G>A p.V127I missense 0.00004118
16. 19207833 c.344G>A p.G115E missense 0.00000824
17. 19209815 c.149C>T p.A50V missense 0.00002479
18. 19213967 c.29G>A p.C10Y missense 0.00000824
19. 19213922 c.74G>T p.C25F missense 0.00000824
20. 19213958 c.38G>A p.C13Y missense 0.00000824
21. 19213980 c.16G>A p.G6R missense 0.00006601
22. 19207812 c.365G>A p.R122Q missense 0.00000824
23. 19207879 c.298C>T p.R100C missense 0.00007413
24. 19209728 c.236G>C p.C79S missense 0.00000824
25. 19206570 c.437G>A p.R146H missense 0.00002473
26. 19206571 c.436C>T p.R146C missense 0.00001649
27. 19209699 c.265G>A p.G89S missense 0.00003296
28. 19209773 c.191G>A p.R64H missense 0.00003298
29. 19209795 c.169T>C p.Y57H missense 0.00000825
30. 19213910 c.86G>A p.S29N missense 0.00000824
31. 19213941 c.55C>G p.H19D missense 0.00000824
32. 19204267 c.535A>G p.T179A missense 0.00001648
33. 19204269 c.533C>T p.P178L missense 0.00000824
34. 19204270 c.532C>T p.P178S missense 0.00000824
35. 19204270 c.532C>G p.P178A missense 0.00000824
36. 19204273 c.529G>A p.G177S missense 0.00000824
37. 19206499 c.508G>C p.V170L missense 0.00000824
38. 19206540 c.467C>T p.S156F missense 0.00000824
39. 19206558 c.449G>A p.C150Y missense 0.00000824
40. 19206561 c.446T>A p.I149N missense 0.00000824
41. 19206573 c.434T>G p.F145C missense 0.00000824
42. 19207768 c.409G>T p.G137C missense 0.00000824
43. 19207791 c.386C>G p.A129G missense 0.00000824
44. 19207818 c.359G>A p.C120Y missense 0.00000824
45. 19207821 c.356A>G p.K119R missense 0.00000824
46. 19207825 c.352G>A p.E118K missense 0.00004118
47. 19207842 c.335C>T p.A112V missense 0.00000824
48. 19207842 c.335C>A p.A112E missense 0.00000824
49. 19207866 c.311C>T p.T104I missense 0.00000824
50. 19207875 c.302C>T p.S101L missense 0.00000824
51. 19207884 c.293C>T p.P98L missense 0.00001647
52. 19207890 c.287C>T p.P96L missense 0.00000824
53. 19207891 c.286C>T p.P96S missense 0.00001647
54. 19207893 c.284C>T p.S95F missense 0.00000824
55. 19209695 c.269T>C p.L90P missense 0.00000824
56. 19209699 c.265G>T p.G89C missense 0.00001648
57. 19209708 c.256G>A p.E86K missense 0.00000824
58. 19209713 c.251C>G p.T84R missense 0.00003296
59. 19209713 c.251C>T p.T84M missense 0.00002472
60. 19209726 c.238C>T p.L80F missense 0.00000824
61. 19209734 c.230C>G p.A77G missense 0.00000824
62. 19209735 c.229G>T p.A77S missense 0.00003296
63. 19209741 c.223C>A p.Q75K missense 0.00000824
64. 19209752 c.212T>C p.I71T missense 0.00000824
65. 19209756 c.208G>T p.G70W missense 0.00004121
66. 19209774 c.190C>A p.R64S missense 0.00000824
67. 19209789 c.175A>G p.K59E missense 0.00001649
68. 19209796 c.168C>G p.I56M missense 0.00001650
69. 19209798 c.166A>G p.I56V missense 0.00000825
70. 19209803 c.161C>T p.S54L missense 0.00000825
71. 19209809 c.155A>T p.H52L missense 0.00000826
72. 19209812 c.152C>T p.A51V missense 0.00000826
73. 19209812 c.152C>G p.A51G missense 0.00001652
74. 19209824 c.140C>T p.T47M missense 0.00001654
75. 19209826 c.138C>A p.S46R missense 0.00000827
76. 19209848 c.116C>G p.A39G missense 0.00001659
77. 19209850 c.114G>C p.M38I missense 0.00000829
78. 19213884 c.112A>C p.M38L missense 0.00000826
79. 19213887 c.109T>C p.C37R missense 0.00000825
80. 19213898 c.98C>T p.T33M missense 0.00002473
81. 19213911 c.85A>C p.S29R missense 0.00000824
82. 19213947 c.49G>A p.V17I missense 0.00000824
83. 19213956 c.40G>C p.E14Q missense 0.00001648
84. 19213976 c.20G>T p.G7V missense 0.00000825
85. 19213983 c.13G>C p.G5R missense 0.00001651
86. 19213991 c.5C>A p.P2Q missense 0.00000827
87. 19204237 c.565C>T p.Q189X nonsense 0.00000824
88. 19204218 c.584G>A nonsense 0.00000824
89. 19204219 c.583T>C nonsense 0.00000824
90. 19204296 c.509-3_509-2delCA essential splice site 0.00002472
91. 19206497 c.508+2T>C essential splice site 0.00000825
92. 19206593 c.415-1G>T essential splice site 0.00000826
93. 19209682 c.281+1G>A essential splice site 0.00000824
94. 19213883 c.112+1G>A essential splice site 0.00006606
95. 19206550 c.457_458delAG p.L154Gfs*7 frameshift 0.00001648
96. 19204286 c.516delT p.Tyr172Ter frameshift 0.00000824
97. 19209748 c.216delG p.Tyr73MetfsTer135 frameshift 0.00000824
98. 19213944 c.52delT p.Tyr18ThrfsTer190 frameshift 0.00000824

* 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.