COL11A1 splice variants in ExAC

COL11A1 gene summary
COL11A1 variants in

The table below lists the COL11A1 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. 103496807 c.652-7delT splice site 0.60754533●●●●●●
2. 103544434 c.275-7T>C splice site 0.17001415●●●●●●
3. 103468767 c.1998+4T>A splice site 0.12289806●●●●●●
4. 103496807 c.652-7_652-6delTT splice site 0.07999270●●●●●●
5. 103496808 c.652-8_652-7insT splice site 0.04414020●●●●●●
6. 103469989 c.1944+11T>C splice site 0.03318223●●●●●●
7. 103468295 c.2043+8G>A splice site 0.03003881●●●●●●
8. 103496808 c.652-8_652-7insTTT splice site 0.02029938●●●●●●
9. 103496807 c.652-7_652-6dupTT splice site 0.00580504●●●●●●
10. 103380372 c.3817-5T>C splice site 0.00397368●●●●●●
11. 103444664 c.2611-4C>T splice site 0.00395365●●●●●●
12. 103496807 c.652-7_652-6[3]TT splice site 0.00226360●●●●●●
13. 103364487 c.4140+10A>T splice site 0.00196688●●●●●●
14. 103379972 c.3925-11C>T splice site 0.00073917●●●●●●
15. 103379193 c.4032G>A p.P1344P splice site 0.00069237●●●●●●
16. 103400613 c.3492+3G>A splice site 0.00056079●●●●●●
17. 103379249 c.3979-3T>C splice site 0.00054398●●●●●●
18. 103487334 c.1246-9A>C splice site 0.00037911●●●●●●
19. 103468831 c.1945-7C>A splice site 0.00034854●●●●●●
20. 103480155 c.1489-5C>A splice site 0.00031028●●●●●●
21. 103491070 c.990+7C>T splice site 0.00023961●●●●●●
22. 103540343 c.489-7T>G splice site 0.00022370●●●●●●
23. 103470156 c.1899+8A>G splice site 0.00021978●●●●●●
24. 103444999 c.2557-8T>C splice site 0.00020917●●●●●●
25. 103388950 c.3601-5C>G splice site 0.00019182●●●●●●
26. 103468831 c.1945-7C>T splice site 0.00016087●●●●●●
27. 103427415 c.3168+7A>T splice site 0.00014626●●●●●●
28. 103380373 c.3817-6G>T splice site 0.00012355●●●●●●
29. 103364554 c.4087-4A>G splice site 0.00010899●●●●●●
30. 103461539 c.2295+6G>A splice site 0.00010798●●●●●●
31. 103462630 c.2241+6T>C splice site 0.00009111●●●●●●
32. 103444260 c.2754+4C>T splice site 0.00009104●●●●●●
33. 103471383 c.1845+11T>G splice site 0.00009092●●●●●●
34. 103463859 c.2196+7A>G splice site 0.00007647●●●●●●
35. 103540340 c.489-4T>A splice site 0.00007454●●●●●●
36. 103345239 c.5274G>A splice site 0.00007442●●●●●●
37. 103345476 c.5041-4C>T splice site 0.00006926●●●●●●
38. 103471878 c.1684-7G>C splice site 0.00006674●●●●●●
39. 103467529 c.2098-4A>T splice site 0.00005790●●●●●●
40. 103354271 c.4554+8C>T splice site 0.00005790●●●●●●
41. 103487333 c.1246-8T>C splice site 0.00005769●●●●●●
42. 103453294 c.2397A>T splice site 0.00004963●●●●●●
43. 103431040 c.2916+3A>G splice site 0.00004952●●●●●●
44. 103487331 c.1246-6C>T splice site 0.00004945●●●●●●
45. 103399997 c.3600+8G>A splice site 0.00004123●●●●●●
46. 103467981 c.2097+3A>G splice site 0.00004123●●●●●●
47. 103385859 c.3762+8T>C splice site 0.00004119●●●●●●
48. 103470160 c.1899+4T>G splice site 0.00003770●●●●●●
49. 103352618 c.4609-6T>C splice site 0.00003298●●●●●●
50. 103379188 c.4032+5G>A splice site 0.00003297●●●●●●
51. 103463924 c.2143-5A>G splice site 0.00003084●●●●●●
52. 103427480 c.3115-5C>T splice site 0.00002815●●●●●●
53. 103427473 c.3117T>C splice site 0.00002714●●●●●●
54. 103468760 c.1998+11C>T splice site 0.00002631●●●●●●
55. 103481224 c.1488G>A splice site 0.00002532●●●●●●
56. 103462633 c.2241+3A>G splice site 0.00002484●●●●●●
57. 103377775 c.4033-7T>C splice site 0.00002471●●●●●●
58. 103496803 c.652-3C>T splice site 0.00002312●●●●●●
59. 103544432 c.275-5C>G splice site 0.00002226●●●●●●
60. 103363738 c.4249-4C>T splice site 0.00001984●●●●●●
61. 103449750 c.2503-3T>C splice site 0.00001897●●●●●●
62. 103380375 c.3817-8T>A splice site 0.00001891●●●●●●
63. 103470161 c.1899+3A>G splice site 0.00001879●●●●●●
64. 103468831 c.1945-7_1945-6insTT splice site 0.00001787●●●●●●
65. 103364557 c.4087-7T>A splice site 0.00001678●●●●●●
66. 103364337 c.4141-8T>A splice site 0.00001675●●●●●●
67. 103354126 c.4608+7A>G splice site 0.00001665●●●●●●
68. 103461540 c.2295+5C>T splice site 0.00001661●●●●●●
69. 103355116 c.4359A>G splice site 0.00001660●●●●●●
70. 103435767 c.2862+8A>C splice site 0.00001658●●●●●●
71. 103345228 c.5274+11G>A splice site 0.00001656●●●●●●
72. 103474076 c.1630-4A>G splice site 0.00001655●●●●●●
73. 103400117 c.3493-5T>G splice site 0.00001652●●●●●●
74. 103427827 c.3025-6C>T splice site 0.00001651●●●●●●
75. 103491898 c.781-10T>C splice site 0.00001650●●●●●●
76. 103352620 c.4609-8C>A splice site 0.00001649●●●●●●
77. 103381179 c.3816+8C>T splice site 0.00001648●●●●●●
78. 103481216 c.1488+8C>A splice site 0.00001388●●●●●●
79. 103467984 c.2097G>A splice site 0.00001350●●●●●●
80. 103388888 c.3654+4dupA splice site 0.00001316●●●●●●
81. 103481224 c.1488G>C splice site 0.00001266●●●●●●
82. 103412518 c.3169-6T>A splice site 0.00001214●●●●●●
83. 103377772 c.4033-4A>G splice site 0.00001192●●●●●●
84. 103412517 c.3169-5A>G splice site 0.00001185●●●●●●
85. 103412517 c.3169-5_3169-4delAC splice site 0.00001162●●●●●●
86. 103364491 c.4140+6A>G splice site 0.00001124●●●●●●
87. 103463925 c.2143-6T>C splice site 0.00001076●●●●●●
88. 103444997 c.2557-6T>C splice site 0.00000933●●●●●●
89. 103444996 c.2557-5T>C splice site 0.00000929●●●●●●
90. 103343730 c.5275-9A>C splice site 0.00000926●●●●●●
91. 103400673 c.3439-4G>A splice site 0.00000904●●●●●●
92. 103470215 c.1848T>A splice site 0.00000902●●●●●●
93. 103478030 c.1573-5delT splice site 0.00000901●●●●●●
94. 103343724 c.5275-3C>T splice site 0.00000900●●●●●●
95. 103379903 c.3978+5G>A splice site 0.00000884●●●●●●
96. 103468827 c.1945-3T>A splice site 0.00000878●●●●●●
97. 103468828 c.1945-4C>A splice site 0.00000878●●●●●●
98. 103468828 c.1945-4C>G splice site 0.00000878●●●●●●
99. 103379908 c.3978A>G splice site 0.00000873●●●●●●
100. 103345480 c.5041-8A>G splice site 0.00000866●●●●●●
101. 103468768 c.1998+3A>C splice site 0.00000861●●●●●●
102. 103468768 c.1998+3A>G splice site 0.00000861●●●●●●
103. 103449686 c.2556+8A>G splice site 0.00000856●●●●●●
104. 103449691 c.2556+3A>G splice site 0.00000854●●●●●●
105. 103470042 c.1902A>G splice site 0.00000843●●●●●●
106. 103400609 c.3492+7A>G splice site 0.00000838●●●●●●
107. 103480154 c.1489-4C>G splice site 0.00000838●●●●●●
108. 103461605 c.2242-7A>G splice site 0.00000838●●●●●●
109. 103364216 c.4248+6C>T splice site 0.00000838●●●●●●
110. 103364553 c.4087-3T>C splice site 0.00000838●●●●●●
111. 103347319 c.4974A>T splice site 0.00000838●●●●●●
112. 103400612 c.3492+4A>G splice site 0.00000837●●●●●●
113. 103347249 c.5040+4T>C splice site 0.00000837●●●●●●
114. 103364334 c.4141-5A>T splice site 0.00000836●●●●●●
115. 103400616 c.3492T>G splice site 0.00000836●●●●●●
116. 103440445 c.2755-6T>C splice site 0.00000835●●●●●●
117. 103488555 c.991-3T>C splice site 0.00000834●●●●●●
118. 103488560 c.991-8A>G splice site 0.00000834●●●●●●
119. 103573630 c.105A>C splice site 0.00000833●●●●●●
120. 103496661 c.780+11C>A splice site 0.00000832●●●●●●
121. 103428319 c.2917-3T>G splice site 0.00000831●●●●●●
122. 103496665 c.780+7A>G splice site 0.00000831●●●●●●
123. 103544209 c.488+5G>A splice site 0.00000830●●●●●●
124. 103355116 c.4359A>T splice site 0.00000830●●●●●●
125. 103455130 c.2341-3T>A splice site 0.00000829●●●●●●
126. 103440379 c.2808+7G>A splice site 0.00000829●●●●●●
127. 103444616 c.2655G>A splice site 0.00000829●●●●●●
128. 103455130 c.2341-3T>C splice site 0.00000829●●●●●●
129. 103444671 c.2611-11_2611-7dupGTCTT splice site 0.00000829●●●●●●
130. 103467532 c.2098-7A>C splice site 0.00000828●●●●●●
131. 103345232 c.5274+7A>G splice site 0.00000828●●●●●●
132. 103480063 c.1572+4A>T splice site 0.00000828●●●●●●
133. 103462684 c.2197-4A>G splice site 0.00000828●●●●●●
134. 103462629 c.2241+7delT splice site 0.00000828●●●●●●
135. 103453304 c.2395-8T>G splice site 0.00000828●●●●●●
136. 103474075 c.1630-3T>C splice site 0.00000828●●●●●●
137. 103467535 c.2098-10T>C splice site 0.00000828●●●●●●
138. 103480061 c.1572+6A>G splice site 0.00000828●●●●●●
139. 103480063 c.1572+4A>C splice site 0.00000828●●●●●●
140. 103444314 c.2710-6T>C splice site 0.00000827●●●●●●
141. 103484422 c.1309-7G>T splice site 0.00000827●●●●●●
142. 103354479 c.4465-4_4465-3delCT splice site 0.00000827●●●●●●
143. 103348870 c.4859-3T>C splice site 0.00000827●●●●●●
144. 103491174 c.898-5A>T splice site 0.00000827●●●●●●
145. 103345235 c.5274+4A>C splice site 0.00000827●●●●●●
146. 103480067 c.1572G>A splice site 0.00000827●●●●●●
147. 103348871 c.4859-4C>T splice site 0.00000827●●●●●●
148. 103453178 c.2502+11G>T splice site 0.00000827●●●●●●
149. 103387130 c.3655-3C>T splice site 0.00000827●●●●●●
150. 103354480 c.4465-5T>G splice site 0.00000827●●●●●●
151. 103444313 c.2710-5G>T splice site 0.00000827●●●●●●
152. 103345236 c.5274+3G>A splice site 0.00000827●●●●●●
153. 103387125 c.3657G>A splice site 0.00000827●●●●●●
154. 103484422 c.1309-7G>A splice site 0.00000827●●●●●●
155. 103461467 c.2296-3C>T splice site 0.00000827●●●●●●
156. 103491073 c.990+4A>T splice site 0.00000826●●●●●●
157. 103381247 c.3763-7T>C splice site 0.00000826●●●●●●
158. 103468296 c.2043+7A>G splice site 0.00000826●●●●●●
159. 103468299 c.2043+4T>A splice site 0.00000826●●●●●●
160. 103491069 c.990+8G>A splice site 0.00000826●●●●●●
161. 103483442 c.1351-4A>G splice site 0.00000825●●●●●●
162. 103431099 c.2863-3T>A splice site 0.00000825●●●●●●
163. 103491896 c.781-8C>T splice site 0.00000825●●●●●●
164. 103431101 c.2863-5C>T splice site 0.00000825●●●●●●
165. 103468353 c.1999-6T>C splice site 0.00000825●●●●●●
166. 103404648 c.3385-4T>C splice site 0.00000824●●●●●●
167. 103399999 c.3600+6A>T splice site 0.00000824●●●●●●
168. 103379244 c.3981T>A splice site 0.00000824●●●●●●
169. 103352357 c.4858+6T>G splice site 0.00000824●●●●●●
170. 103444408 c.2709+8C>G splice site 0.00000824●●●●●●
171. 103385924 c.3709-4G>T splice site 0.00000824●●●●●●
172. 103467479 c.2142+2dupT splice site 0.00000824●●●●●●
173. 103471682 c.1738-5A>T splice site 0.00000824●●●●●●
174. 103352357 c.4858+6T>C splice site 0.00000824●●●●●●
175. 103404642 c.3387T>C 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.