PRPF8 splice variants in ExAC

PRPF8 gene summary
PRPF8 variants in

The table below lists the PRPF8 splice variants found in the ExAC population database. 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. 1576369 c.3774+6G>A splice site 0.21714125●●●●●●
2. 1584132 c.993-7A>G splice site 0.02672806●●●●●●
3. 1586998 c.101-3C>T splice site 0.01201199●●●●●●
4. 1577985 c.3061-11T>G splice site 0.01044500●●●●●●
5. 1582714 c.1290-10A>G splice site 0.00563065●●●●●●
6. 1554254 c.6854-4G>A splice site 0.00420120●●●●●●
7. 1585338 c.435-6T>G splice site 0.00319960●●●●●●
8. 1557063 c.6227+8C>T splice site 0.00030475●●●●●●
9. 1581953 c.1720-7A>G splice site 0.00028892●●●●●●
10. 1560055 c.5506T>C p.L1836L splice site 0.00025871●●●●●●
11. 1583101 c.1099-8T>C splice site 0.00024718●●●●●●
12. 1587003 c.101-8C>T splice site 0.00022563●●●●●●
13. 1562060 c.5139-3C>T splice site 0.00019071●●●●●●
14. 1554253 c.6854-3A>C splice site 0.00016475●●●●●●
15. 1580992 c.1855-4G>A splice site 0.00013377●●●●●●
16. 1554850 c.6511-3T>C splice site 0.00010708●●●●●●
17. 1554254 c.6854-4G>C splice site 0.00007414●●●●●●
18. 1564124 c.4509-3C>T splice site 0.00006641●●●●●●
19. 1562847 c.4947-5C>T splice site 0.00005771●●●●●●
20. 1576868 c.3447-7T>G splice site 0.00005767●●●●●●
21. 1580008 c.2182-3T>C splice site 0.00004967●●●●●●
22. 1581944 c.1722G>T p.L574L splice site 0.00004953●●●●●●
23. 1563293 c.4788G>T p.V1596V splice site 0.00004942●●●●●●
24. 1562646 c.5138+5G>C splice site 0.00004942●●●●●●
25. 1562065 c.5139-8C>T splice site 0.00004157●●●●●●
26. 1558641 c.5987+3G>T splice site 0.00004139●●●●●●
27. 1582179 c.1600-4C>T splice site 0.00004125●●●●●●
28. 1554937 c.6510+5T>C splice site 0.00004119●●●●●●
29. 1558840 c.5794-3C>G splice site 0.00004118●●●●●●
30. 1558848 c.5794-11T>C splice site 0.00004118●●●●●●
31. 1562062 c.5139-5C>T splice site 0.00003322●●●●●●
32. 1584989 c.654-5C>T splice site 0.00003296●●●●●●
33. 1586993 c.103C>A p.R35R splice site 0.00002490●●●●●●
34. 1585420 c.434+3G>A splice site 0.00002487●●●●●●
35. 1576647 c.3657+4C>T splice site 0.00002486●●●●●●
36. 1582303 c.1599+8C>T splice site 0.00002479●●●●●●
37. 1578441 c.3060+5G>A splice site 0.00002474●●●●●●
38. 1561814 c.5376+6_5376+9delTGTT splice site 0.00002471●●●●●●
39. 1579113 c.2680-7C>T splice site 0.00002471●●●●●●
40. 1561681 c.5377-6C>T splice site 0.00002471●●●●●●
41. 1558636 c.5987+8delG splice site 0.00001660●●●●●●
42. 1558637 c.5987+7A>G splice site 0.00001658●●●●●●
43. 1584353 c.867-5C>T splice site 0.00001657●●●●●●
44. 1580008 c.2182-3dupT splice site 0.00001655●●●●●●
45. 1580265 c.2181+5G>C splice site 0.00001648●●●●●●
46. 1578632 c.2874C>T splice site 0.00001648●●●●●●
47. 1561814 c.5376+6T>C splice site 0.00001648●●●●●●
48. 1585592 c.270-5G>A splice site 0.00001648●●●●●●
49. 1579217 c.2679+5G>A splice site 0.00001648●●●●●●
50. 1561813 c.5376+7G>A splice site 0.00001648●●●●●●
51. 1564462 c.4339-6A>G splice site 0.00001648●●●●●●
52. 1561817 c.5376+3G>A splice site 0.00001647●●●●●●
53. 1579673 c.2389-9A>G splice site 0.00001647●●●●●●
54. 1579662 c.2391C>T splice site 0.00001647●●●●●●
55. 1587758 c.100+8G>A splice site 0.00000884●●●●●●
56. 1587758 c.100+8G>C splice site 0.00000884●●●●●●
57. 1560053 c.5508G>A splice site 0.00000880●●●●●●
58. 1580993 c.1855-5C>A splice site 0.00000836●●●●●●
59. 1580992 c.1855-4G>T splice site 0.00000836●●●●●●
60. 1577979 c.3061-5dupT splice site 0.00000834●●●●●●
61. 1587000 c.101-5T>C splice site 0.00000833●●●●●●
62. 1586999 c.101-4C>T splice site 0.00000833●●●●●●
63. 1559935 c.5619+7G>C splice site 0.00000831●●●●●●
64. 1564127 c.4509-6C>G splice site 0.00000830●●●●●●
65. 1585339 c.435-7C>T splice site 0.00000829●●●●●●
66. 1582052 c.1719+4A>G splice site 0.00000829●●●●●●
67. 1582707 c.1290-3C>T splice site 0.00000829●●●●●●
68. 1584355 c.867-7A>T splice site 0.00000829●●●●●●
69. 1584352 c.867-4C>A splice site 0.00000828●●●●●●
70. 1580009 c.2182-4T>C splice site 0.00000828●●●●●●
71. 1584353 c.867-5C>G splice site 0.00000828●●●●●●
72. 1563128 c.4946+7G>A splice site 0.00000827●●●●●●
73. 1580003 c.2184C>G splice site 0.00000827●●●●●●
74. 1576368 c.3774+7G>A splice site 0.00000827●●●●●●
75. 1555086 c.6370-4C>G splice site 0.00000826●●●●●●
76. 1564897 c.4202+8C>T splice site 0.00000826●●●●●●
77. 1582895 c.1289+8T>G splice site 0.00000825●●●●●●
78. 1582897 c.1289+6G>T splice site 0.00000825●●●●●●
79. 1578439 c.3060+7C>T splice site 0.00000825●●●●●●
80. 1582182 c.1600-7_1600-5delTCT splice site 0.00000825●●●●●●
81. 1578442 c.3060+4C>T splice site 0.00000825●●●●●●
82. 1563293 c.4788G>A splice site 0.00000824●●●●●●
83. 1558843 c.5794-6T>C splice site 0.00000824●●●●●●
84. 1554255 c.6854-5C>T splice site 0.00000824●●●●●●
85. 1578906 c.2872+8T>A splice site 0.00000824●●●●●●
86. 1576489 c.3660T>C splice site 0.00000824●●●●●●
87. 1584133 c.993-8C>G splice site 0.00000824●●●●●●
88. 1579503 c.2550T>C p.Y850Y splice site 0.00000824●●●●●●
89. 1554253 c.6854-3A>G splice site 0.00000824●●●●●●
90. 1563298 c.4786-3C>T splice site 0.00000824●●●●●●
91. 1561542 c.5505+5G>C splice site 0.00000824●●●●●●
92. 1559682 c.5793+4T>C splice site 0.00000824●●●●●●
93. 1580474 c.1985-8A>G splice site 0.00000824●●●●●●
94. 1554702 c.6650+6C>T splice site 0.00000824●●●●●●
95. 1576865 c.3447-4G>A splice site 0.00000824●●●●●●
96. 1580263 c.2181+7G>A splice site 0.00000824●●●●●●
97. 1585106 c.653+8A>G splice site 0.00000824●●●●●●
98. 1578639 c.2873-6C>A splice site 0.00000824●●●●●●
99. 1563300 c.4786-5T>C splice site 0.00000824●●●●●●
100. 1586819 c.269+8A>G splice site 0.00000824●●●●●●
101. 1561673 c.5379C>G splice site 0.00000824●●●●●●
102. 1584012 c.1098+8A>T splice site 0.00000824●●●●●●
103. 1554854 c.6511-7C>T splice site 0.00000824●●●●●●
104. 1579217 c.2679+5G>T splice site 0.00000824●●●●●●
105. 1576867 c.3447-6G>C splice site 0.00000824●●●●●●
106. 1561815 c.5376+5G>A splice site 0.00000824●●●●●●
107. 1583100 c.1099-7T>A splice site 0.00000824●●●●●●
108. 1580265 c.2181+5delG splice site 0.00000824●●●●●●
109. 1554256 c.6854-6_6854-5delCC splice site 0.00000824●●●●●●
110. 1578644 c.2873-11_2873-8dupCTAC splice site 0.00000824●●●●●●
111. 1577725 c.3299+11T>C splice site 0.00000824●●●●●●
112. 1556830 c.6369+6dupT splice site 0.00000824●●●●●●
113. 1554855 c.6511-8A>C splice site 0.00000824●●●●●●
114. 1584984 c.654G>A splice site 0.00000824●●●●●●
115. 1579498 c.2552+3G>A splice site 0.00000824●●●●●●
116. 1577729 c.3299+7G>T splice site 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.