FN1 splice variants in ExAC

FN1 gene summary
FN1 variants in

The table below lists the FN1 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. 216283958 c.1819+7A>T splice site 0.32060678●●●●●●
2. 216299550 c.149-3C>T splice site 0.31964754●●●●●●
3. 216299551 c.149-4G>T splice site 0.31962537●●●●●●
4. 0 c.5978-12_5978-11delGT splice site 0.31887902●●●●●●
5. 216256344 c.4252+11G>C splice site 0.03705323●●●●●●
6. 216271244 c.2714-11_2714-10delTT splice site 0.00395776●●●●●●
7. 216285530 c.1547-6A>G splice site 0.00271295●●●●●●
8. 216232579 c.7018+7A>G splice site 0.00235908●●●●●●
9. 216261851 c.3604+9G>A splice site 0.00213362●●●●●●
10. 216244047 c.5435-7T>C splice site 0.00071786●●●●●●
11. 216262400 c.3517+3A>G splice site 0.00022254●●●●●●
12. 216240345 c.5977+7A>G splice site 0.00012407●●●●●●
13. 216264079 c.3254-5C>T splice site 0.00009069●●●●●●
14. 216238141 c.6158-7C>T splice site 0.00008238●●●●●●
15. 216226685 c.7362+7G>C splice site 0.00007462●●●●●●
16. 216295579 c.548-4A>G splice site 0.00007460●●●●●●
17. 216256545 c.4070-8G>A splice site 0.00006607●●●●●●
18. 216274647 c.2122+10C>T splice site 0.00006589●●●●●●
19. 216237097 c.6249C>T p.D2083D splice site 0.00005803●●●●●●
20. 216256546 c.4070-9C>T splice site 0.00005783●●●●●●
21. 216246924 c.5164+11A>G splice site 0.00004997●●●●●●
22. 216235166 c.6715-11G>A splice site 0.00004951●●●●●●
23. 216248915 c.4730-8T>C splice site 0.00004946●●●●●●
24. 216230352 c.7020A>G splice site 0.00004945●●●●●●
25. 216229602 c.7251G>A p.R2417R splice site 0.00004490●●●●●●
26. 216288862 c.1216+7G>A splice site 0.00004123●●●●●●
27. 216236625 c.6714+7_6714+10delAATT splice site 0.00004122●●●●●●
28. 216273015 c.2428+6T>C splice site 0.00004119●●●●●●
29. 216300375 c.148+3G>A splice site 0.00003447●●●●●●
30. 216257929 c.3797-3T>C splice site 0.00003322●●●●●●
31. 216261950 c.3518-4A>G splice site 0.00003299●●●●●●
32. 216262577 c.3349-6delC splice site 0.00003298●●●●●●
33. 216288866 c.1216+3G>A splice site 0.00003298●●●●●●
34. 216238140 c.6158-6C>T splice site 0.00003295●●●●●●
35. 216229711 c.7145-3C>T splice site 0.00002954●●●●●●
36. 216300375 c.148+3_148+4insT splice site 0.00002585●●●●●●
37. 216288260 c.1217-11_1217-9delGTT splice site 0.00002578●●●●●●
38. 216237103 c.6248-5G>C splice site 0.00002489●●●●●●
39. 216295581 c.548-6C>T splice site 0.00002489●●●●●●
40. 216246931 c.5164+4C>T splice site 0.00002489●●●●●●
41. 216226684 c.7362+8C>G splice site 0.00002488●●●●●●
42. 216259449 c.3605-7dupT splice site 0.00002483●●●●●●
43. 216289812 c.1036+5G>A splice site 0.00002475●●●●●●
44. 216289810 c.1036+7A>G splice site 0.00002475●●●●●●
45. 216292904 c.843C>T splice site 0.00002475●●●●●●
46. 216256346 c.4252+9T>C splice site 0.00002474●●●●●●
47. 216262404 c.3516A>G splice site 0.00002472●●●●●●
48. 216230224 c.7144+4T>C splice site 0.00002471●●●●●●
49. 216247056 c.5051-8C>T splice site 0.00001678●●●●●●
50. 216237105 c.6248-7C>T splice site 0.00001660●●●●●●
51. 216232754 c.6854-4A>G splice site 0.00001656●●●●●●
52. 216295578 c.548-3C>T splice site 0.00001656●●●●●●
53. 0 c.6854-13_6854-5delCTTTTCTTC splice site 0.00001656●●●●●●
54. 216259449 c.3605-7T>C splice site 0.00001655●●●●●●
55. 216230360 c.7019-7C>T splice site 0.00001650●●●●●●
56. 216262395 c.3517+8G>T splice site 0.00001649●●●●●●
57. 216284115 c.1676-7A>G splice site 0.00001649●●●●●●
58. 216272919 c.2430G>T splice site 0.00001648●●●●●●
59. 216285390 c.1675+6dupT splice site 0.00001648●●●●●●
60. 216239933 c.6157+4T>C splice site 0.00001648●●●●●●
61. 216272919 c.2430G>A splice site 0.00001648●●●●●●
62. 216286810 c.1546+4T>G splice site 0.00001647●●●●●●
63. 216298048 c.414A>G p.A138A splice site 0.00001647●●●●●●
64. 216298192 c.278-8C>T splice site 0.00000941●●●●●●
65. 216298187 c.278-3C>T splice site 0.00000917●●●●●●
66. 216271240 c.2714-7C>T splice site 0.00000878●●●●●●
67. 216288257 c.1217-8C>A splice site 0.00000859●●●●●●
68. 216226807 c.7252-5C>T splice site 0.00000845●●●●●●
69. 216249707 c.4613-8T>C splice site 0.00000843●●●●●●
70. 216226800 c.7254C>G p.G2418G splice site 0.00000837●●●●●●
71. 216279552 c.1941+8T>A splice site 0.00000832●●●●●●
72. 216242992 c.5623-7delT splice site 0.00000831●●●●●●
73. 216246929 c.5164+6T>C splice site 0.00000831●●●●●●
74. 216257655 c.4068G>A splice site 0.00000829●●●●●●
75. 216245531 c.5434+3A>G splice site 0.00000827●●●●●●
76. 216226355 c.7363-6T>A splice site 0.00000826●●●●●●
77. 216289056 c.1037-8G>A splice site 0.00000826●●●●●●
78. 216289053 c.1037-5T>G splice site 0.00000826●●●●●●
79. 216289055 c.1037-7A>G splice site 0.00000826●●●●●●
80. 216283957 c.1819+8G>A splice site 0.00000826●●●●●●
81. 216295434 c.685+4T>A splice site 0.00000825●●●●●●
82. 216230359 c.7019-6C>G splice site 0.00000825●●●●●●
83. 216290014 c.845-6C>T splice site 0.00000825●●●●●●
84. 216283958 c.1819+7A>C splice site 0.00000825●●●●●●
85. 216274466 c.2123-4C>T splice site 0.00000825●●●●●●
86. 216290015 c.845-7C>A splice site 0.00000825●●●●●●
87. 216283966 c.1818A>G splice site 0.00000825●●●●●●
88. 216235158 c.6715-3C>T splice site 0.00000825●●●●●●
89. 216235153 c.6717C>T splice site 0.00000825●●●●●●
90. 216244045 c.5435-5G>A splice site 0.00000825●●●●●●
91. 216230360 c.7019-7C>G splice site 0.00000825●●●●●●
92. 216290012 c.845-4T>G splice site 0.00000825●●●●●●
93. 216263974 c.3348+6C>T splice site 0.00000824●●●●●●
94. 216298043 c.415+4A>C splice site 0.00000824●●●●●●
95. 216274287 c.2298G>T p.L766L splice site 0.00000824●●●●●●
96. 216241214 c.5887+7G>A splice site 0.00000824●●●●●●
97. 216273017 c.2428+4C>T splice site 0.00000824●●●●●●
98. 216274649 c.2122+8C>T splice site 0.00000824●●●●●●
99. 216248735 c.4894+8C>T splice site 0.00000824●●●●●●
100. 216238140 c.6158-6C>A splice site 0.00000824●●●●●●
101. 216238037 c.6247+8T>A splice site 0.00000824●●●●●●
102. 216262577 c.3349-6dupC splice site 0.00000824●●●●●●
103. 216273014 c.2428+7G>A splice site 0.00000824●●●●●●
104. 216271844 c.2713+6T>C splice site 0.00000824●●●●●●
105. 216262575 c.3349-4C>G splice site 0.00000824●●●●●●
106. 216296692 c.416-5A>G splice site 0.00000824●●●●●●
107. 216243846 c.5622+7C>T splice site 0.00000824●●●●●●
108. 216253032 c.4253-8C>A splice site 0.00000824●●●●●●
109. 216274653 c.2122+4T>C splice site 0.00000824●●●●●●
110. 216296553 c.547+3G>C splice site 0.00000824●●●●●●
111. 216248738 c.4894+5A>T splice site 0.00000824●●●●●●
112. 216238042 c.6247+3A>G splice site 0.00000824●●●●●●
113. 216285397 c.1674C>G splice site 0.00000824●●●●●●
114. 216284107 c.1677C>T splice site 0.00000824●●●●●●
115. 216230358 c.7019-5dupT splice site 0.00000824●●●●●●
116. 216243847 c.5622+6A>G splice site 0.00000824●●●●●●
117. 216236621 c.6714+11G>A splice site 0.00000824●●●●●●
118. 216262395 c.3517+8_3517+10delGAA 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.