LTBP2 missense variants in ExAC

LTBP2 gene summary
LTBP2 variants in

The table below lists the LTBP2 missense 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. 75022271 c.956C>A p.P319Q missense 0.06556527●●●●●●
2. 74976452 c.3262G>A p.G1088S missense 0.03352084●●●●●●
3. 75017900 c.1553G>T p.S518I missense 0.00833705●●●●●●
4. 74970041 c.4769T>C p.V1590A missense 0.00780108●●●●●●
5. 74978010 c.2966C>G p.P989R missense 0.00551234●●●●●●
6. 74971769 c.4286G>A p.R1429Q missense 0.00395420●●●●●●
7. 75078538 c.110G>T p.R37M missense 0.00198910●●●●●●
8. 75018994 c.1295C>T p.P432L missense 0.00185529●●●●●●
9. 74971854 c.4201A>G p.T1401A missense 0.00154034●●●●●●
10. 74988734 c.2668G>A p.E890K missense 0.00131475●●●●●●
11. 74970695 c.4516G>A p.V1506M missense 0.00127773●●●●●●
12. 75078440 c.208A>G p.S70G missense 0.00100505●●●●●●
13. 75052587 c.800C>T p.S267L missense 0.00095014●●●●●●
14. 74975348 c.3611C>T p.A1204V missense 0.00082253●●●●●●
15. 75052602 c.785C>T p.P262L missense 0.00076540●●●●●●
16. 74967651 c.5402G>A p.R1801H missense 0.00073311●●●●●●
17. 74989495 c.2657C>A p.T886K missense 0.00071874●●●●●●
18. 75002697 c.1796C>T p.P599L missense 0.00062831●●●●●●
19. 74970271 c.4621G>A p.E1541K missense 0.00060483●●●●●●
20. 74969548 c.4978G>T p.G1660W missense 0.00053703●●●●●●
21. 75078428 c.220G>C p.E74Q missense 0.00052169●●●●●●
22. 74974786 c.3665G>T p.C1222F missense 0.00051881●●●●●●
23. 75052569 c.818C>T p.S273L missense 0.00051504●●●●●●
24. 75017922 c.1531C>A p.P511T missense 0.00051209●●●●●●
25. 75078360 c.288G>C p.R96S missense 0.00045746●●●●●●
26. 74969562 c.4964A>G p.Y1655C missense 0.00044685●●●●●●
27. 75078628 c.20C>T p.A7V missense 0.00041946●●●●●●
28. 74976898 c.3047C>T p.T1016I missense 0.00038983●●●●●●
29. 74973926 c.3863G>T p.G1288V missense 0.00038723●●●●●●
30. 74983596 c.2837C>T p.T946I missense 0.00038092●●●●●●
31. 74995228 c.2326G>A p.V776I missense 0.00037421●●●●●●
32. 74988631 c.2771C>T p.A924V missense 0.00037286●●●●●●
33. 75017966 c.1487G>A p.G496D missense 0.00034693●●●●●●
34. 75078638 c.10C>T p.R4W missense 0.00033075●●●●●●
35. 74978052 c.2924G>A p.R975H missense 0.00030483●●●●●●
36. 74969592 c.4934G>A p.R1645Q missense 0.00030044●●●●●●
37. 75017876 c.1577G>A p.S526N missense 0.00028694●●●●●●
38. 74972856 c.4072G>T p.A1358S missense 0.00026379●●●●●●
39. 74978044 c.2932G>A p.G978S missense 0.00026364●●●●●●
40. 75017841 c.1612C>T p.R538W missense 0.00026079●●●●●●
41. 75018980 c.1309G>A p.E437K missense 0.00024804●●●●●●
42. 74999137 c.1979G>A p.R660H missense 0.00023899●●●●●●
43. 75052819 c.568G>A p.V190I missense 0.00023746●●●●●●
44. 74972790 c.4138G>C p.D1380H missense 0.00023102●●●●●●
45. 74995348 c.2206G>A p.D736N missense 0.00022593●●●●●●
46. 74968229 c.5235T>G p.N1745K missense 0.00022309●●●●●●
47. 75018048 c.1405G>A p.V469M missense 0.00020127●●●●●●
48. 74969614 c.4912G>A p.V1638M missense 0.00018505●●●●●●
49. 75002662 c.1831G>C p.G611R missense 0.00018154●●●●●●
50. 74969470 c.5056G>A p.V1686I missense 0.00018131●●●●●●
51. 75017844 c.1609C>G p.P537A missense 0.00017657●●●●●●
52. 74969578 c.4948C>T p.H1650Y missense 0.00017440●●●●●●
53. 75022277 c.950C>T p.P317L missense 0.00016786●●●●●●
54. 75052800 c.587A>G p.Q196R missense 0.00016737●●●●●●
55. 74967636 c.5417C>T p.P1806L missense 0.00015777●●●●●●
56. 75016659 c.1696C>A p.P566T missense 0.00015704●●●●●●
57. 74995714 c.2099G>A p.R700H missense 0.00015191●●●●●●
58. 74968164 c.5300C>T p.A1767V missense 0.00014872●●●●●●
59. 74999143 c.1973G>A p.R658Q missense 0.00014835●●●●●●
60. 75070338 c.565C>T p.P189S missense 0.00014006●●●●●●
61. 75017964 c.1489G>A p.G497R missense 0.00014003●●●●●●
62. 74995691 c.2122G>A p.E708K missense 0.00013533●●●●●●
63. 75070395 c.508G>A p.G170R missense 0.00013194●●●●●●
64. 75078604 c.44G>A p.R15Q missense 0.00012761●●●●●●
65. 74973443 c.3991G>A p.D1331N missense 0.00012390●●●●●●
66. 74972873 c.4055T>C p.M1352T missense 0.00012367●●●●●●
67. 74988644 c.2758G>A p.A920T missense 0.00011618●●●●●●
68. 74991832 c.2525C>T p.T842I missense 0.00010851●●●●●●
69. 74969572 c.4954C>T p.R1652W missense 0.00010772●●●●●●
70. 74975406 c.3553C>T p.H1185Y missense 0.00010771●●●●●●
71. 74999146 c.1970C>T p.S657L missense 0.00010714●●●●●●
72. 75018907 c.1382C>T p.P461L missense 0.00010504●●●●●●
73. 74970002 c.4808G>A p.R1603H missense 0.00010017●●●●●●
74. 74967716 c.5337T>A p.D1779E missense 0.00010003●●●●●●
75. 74971700 c.4355C>T p.P1452L missense 0.00009896●●●●●●
76. 74983573 c.2860T>A p.C954S missense 0.00009517●●●●●●
77. 74971838 c.4217C>T p.P1406L missense 0.00009185●●●●●●
78. 74995314 c.2240A>G p.E747G missense 0.00009160●●●●●●
79. 74971731 c.4324G>A p.A1442T missense 0.00009081●●●●●●
80. 74975611 c.3448G>A p.E1150K missense 0.00009081●●●●●●
81. 74999138 c.1978C>T p.R660C missense 0.00009065●●●●●●
82. 74969371 c.5155G>A p.V1719M missense 0.00009063●●●●●●
83. 74969424 c.5102G>A p.R1701H missense 0.00009061●●●●●●
84. 74967706 c.5347G>A p.G1783R missense 0.00008791●●●●●●
85. 75017918 c.1535C>T p.P512L missense 0.00008785●●●●●●
86. 75018988 c.1301C>T p.P434L missense 0.00008526●●●●●●
87. 75017859 c.1594C>T p.R532W missense 0.00008412●●●●●●
88. 75017858 c.1595G>A p.R532Q missense 0.00008412●●●●●●
89. 75078467 c.181C>T p.P61S missense 0.00008409●●●●●●
90. 75017772 c.1681G>A p.G561R missense 0.00008403●●●●●●
91. 75019631 c.1156G>A p.G386S missense 0.00008368●●●●●●
92. 75022240 c.987G>T p.Q329H missense 0.00008310●●●●●●
93. 75078217 c.431G>T p.R144L missense 0.00008294●●●●●●
94. 74969566 c.4960G>A p.G1654S missense 0.00008278●●●●●●
95. 74995745 c.2068C>T p.R690W missense 0.00007864●●●●●●
96. 74969604 c.4922T>C p.I1641T missense 0.00007538●●●●●●
97. 74975971 c.3373C>T p.R1125W missense 0.00007457●●●●●●
98. 74971770 c.4285C>T p.R1429W missense 0.00007445●●●●●●
99. 74969440 c.5086G>A p.G1696S missense 0.00007414●●●●●●
100. 74991895 c.2462G>A p.G821E missense 0.00007233●●●●●●
101. 75078250 c.398C>T p.A133V missense 0.00006942●●●●●●
102. 75052780 c.607C>T p.R203C missense 0.00006896●●●●●●
103. 74970754 c.4457C>T p.A1486V missense 0.00006884●●●●●●
104. 74967687 c.5366T>A p.V1789D missense 0.00006799●●●●●●
105. 75017795 c.1658G>A p.R553Q missense 0.00006715●●●●●●
106. 74971809 c.4246G>A p.G1416R missense 0.00006644●●●●●●
107. 74975388 c.3571G>A p.E1191K missense 0.00006638●●●●●●
108. 74974735 c.3716C>T p.S1239F missense 0.00006638●●●●●●
109. 74973524 c.3910A>G p.I1304V missense 0.00006621●●●●●●
110. 74969542 c.4984G>A p.D1662N missense 0.00006607●●●●●●
111. 75018003 c.1450G>A p.A484T missense 0.00006345●●●●●●
112. 74988700 c.2702G>A p.R901H missense 0.00006245●●●●●●
113. 75078356 c.292C>A p.P98T missense 0.00006199●●●●●●
114. 74975325 c.3634G>T p.G1212W missense 0.00006192●●●●●●
115. 75078355 c.293C>T p.P98L missense 0.00006081●●●●●●
116. 74988689 c.2713C>T p.R905C missense 0.00006026●●●●●●
117. 74971805 c.4250A>G p.Q1417R missense 0.00005809●●●●●●
118. 74968147 c.5317G>A p.V1773I missense 0.00005793●●●●●●
119. 74973503 c.3931A>C p.T1311P missense 0.00005789●●●●●●
120. 74975636 c.3423C>A p.D1141E missense 0.00005782●●●●●●
121. 74976521 c.3193C>T p.L1065F missense 0.00005768●●●●●●
122. 75052732 c.655G>A p.E219K missense 0.00005525●●●●●●
123. 74970193 c.4699A>G p.M1567V missense 0.00005404●●●●●●
124. 75052647 c.740G>T p.R247L missense 0.00005292●●●●●●
125. 75052647 c.740G>A p.R247H missense 0.00005292●●●●●●
126. 75078610 c.38C>T p.A13V missense 0.00005257●●●●●●
127. 74975331 c.3628G>A p.A1210T missense 0.00005205●●●●●●
128. 75019691 c.1096C>T p.R366C missense 0.00005051●●●●●●
129. 75078191 c.457G>A p.A153T missense 0.00005019●●●●●●
130. 74969933 c.4877C>T p.P1626L missense 0.00004990●●●●●●
131. 74967643 c.5410T>C p.C1804R missense 0.00004986●●●●●●
132. 74995825 c.1988C>T p.S663L missense 0.00004972●●●●●●
133. 74976028 c.3316G>A p.G1106R missense 0.00004970●●●●●●
134. 74973506 c.3928G>A p.D1310N missense 0.00004962●●●●●●
135. 74973465 c.3969T>A p.D1323E missense 0.00004959●●●●●●
136. 74971757 c.4298A>G p.Q1433R missense 0.00004958●●●●●●
137. 74999159 c.1957A>T p.M653L missense 0.00004946●●●●●●
138. 74999144 c.1972C>T p.R658W missense 0.00004945●●●●●●
139. 74973939 c.3850C>T p.R1284C missense 0.00004943●●●●●●
140. 74995801 c.2012A>T p.Q671L missense 0.00004848●●●●●●
141. 74983620 c.2813G>A p.G938E missense 0.00004787●●●●●●
142. 75078538 c.110G>A p.R37K missense 0.00004781●●●●●●
143. 74995786 c.2027G>A p.R676Q missense 0.00004678●●●●●●
144. 74995715 c.2098C>T p.R700C missense 0.00004660●●●●●●
145. 74992790 c.2416G>C p.A806P missense 0.00004492●●●●●●
146. 75018958 c.1331G>A p.R444H missense 0.00004358●●●●●●
147. 74992807 c.2399G>T p.S800I missense 0.00004318●●●●●●
148. 75019753 c.1034C>T p.T345M missense 0.00004229●●●●●●
149. 74995356 c.2198C>T p.A733V missense 0.00004189●●●●●●
150. 75052813 c.574G>A p.E192K missense 0.00004186●●●●●●
151. 75052590 c.797A>G p.Q266R missense 0.00004171●●●●●●
152. 74969584 c.4942G>A p.G1648R missense 0.00004164●●●●●●
153. 74969581 c.4945G>A p.V1649I missense 0.00004162●●●●●●
154. 74995301 c.2253G>T p.R751S missense 0.00004161●●●●●●
155. 75052569 c.818C>G p.S273W missense 0.00004154●●●●●●
156. 74974711 c.3740G>A p.G1247D missense 0.00004150●●●●●●
157. 74968240 c.5224G>A p.G1742S missense 0.00004133●●●●●●
158. 74969548 c.4978G>A p.G1660R missense 0.00004131●●●●●●
159. 74976838 c.3107G>T p.C1036F missense 0.00004131●●●●●●
160. 74968213 c.5251G>A p.V1751M missense 0.00004129●●●●●●
161. 75078212 c.436G>A p.G146R missense 0.00004101●●●●●●
162. 75078563 c.85T>C p.F29L missense 0.00004002●●●●●●
163. 75052806 c.581C>T p.P194L missense 0.00003945●●●●●●
164. 74989550 c.2602T>A p.Y868N missense 0.00003778●●●●●●
165. 75052794 c.593G>A p.R198Q missense 0.00003617●●●●●●
166. 74991857 c.2500A>G p.T834A missense 0.00003615●●●●●●
167. 75078454 c.194C>A p.A65E missense 0.00003544●●●●●●
168. 75022349 c.878G>T p.G293V missense 0.00003489●●●●●●
169. 74970258 c.4634C>T p.T1545M missense 0.00003429●●●●●●
170. 74988688 c.2714G>A p.R905H missense 0.00003424●●●●●●
171. 75019690 c.1097G>A p.R366H missense 0.00003368●●●●●●
172. 75017840 c.1613G>A p.R538Q missense 0.00003367●●●●●●
173. 75017865 c.1588C>T p.P530S missense 0.00003366●●●●●●
174. 75022288 c.939C>A p.N313K missense 0.00003364●●●●●●
175. 74970709 c.4502G>A p.R1501Q missense 0.00003356●●●●●●
176. 74969607 c.4919G>A p.R1640H missense 0.00003356●●●●●●
177. 74970011 c.4799G>A p.R1600H missense 0.00003353●●●●●●
178. 74968276 c.5188G>A p.E1730K missense 0.00003339●●●●●●
179. 74967600 c.5453C>T p.T1818I missense 0.00003332●●●●●●
180. 75022254 c.973G>A p.D325N missense 0.00003331●●●●●●
181. 74967652 c.5401C>G p.R1801G missense 0.00003330●●●●●●
182. 75017969 c.1484G>A p.R495Q missense 0.00003326●●●●●●
183. 74974742 c.3709G>A p.E1237K missense 0.00003321●●●●●●
184. 74974738 c.3713G>A p.G1238D missense 0.00003320●●●●●●
185. 74976893 c.3052G>A p.G1018R missense 0.00003316●●●●●●
186. 74999212 c.1904C>T p.A635V missense 0.00003316●●●●●●
187. 74976890 c.3055G>T p.V1019F missense 0.00003315●●●●●●
188. 74973485 c.3949G>A p.G1317S missense 0.00003308●●●●●●
189. 74973500 c.3934A>G p.M1312V missense 0.00003307●●●●●●
190. 74972768 c.4160G>A p.R1387H missense 0.00003306●●●●●●
191. 75016659 c.1696C>T p.P566S missense 0.00003306●●●●●●
192. 74973424 c.4010C>T p.S1337F missense 0.00003305●●●●●●
193. 74972769 c.4159C>T p.R1387C missense 0.00003305●●●●●●
194. 74977971 c.3005G>A p.R1002Q missense 0.00003298●●●●●●
195. 74999129 c.1987T>C p.S663P missense 0.00003297●●●●●●
196. 74999158 c.1958T>C p.M653T missense 0.00003297●●●●●●
197. 74969425 c.5101C>T p.R1701C missense 0.00003295●●●●●●
198. 75078466 c.182C>A p.P61Q missense 0.00003176●●●●●●
199. 75078428 c.220G>A p.E74K missense 0.00003162●●●●●●
200. 74988740 c.2662G>A p.D888N missense 0.00003103●●●●●●
201. 75052747 c.640C>T p.R214C missense 0.00002989●●●●●●
202. 75078172 c.476C>T p.P159L missense 0.00002980●●●●●●
203. 75078352 c.296C>T p.T99I missense 0.00002949●●●●●●
204. 74992813 c.2393C>T p.T798M missense 0.00002947●●●●●●
205. 75078634 c.14C>T p.T5I missense 0.00002932●●●●●●
206. 74989520 c.2632C>A p.L878M missense 0.00002897●●●●●●
207. 75052737 c.650G>A p.R217H missense 0.00002885●●●●●●
208. 74992807 c.2399G>C p.S800T missense 0.00002878●●●●●●
209. 75078379 c.269C>T p.P90L missense 0.00002864●●●●●●
210. 75078340 c.308C>G p.A103G missense 0.00002803●●●●●●
211. 75052662 c.725G>A p.R242H missense 0.00002766●●●●●●
212. 75078331 c.317C>T p.P106L missense 0.00002740●●●●●●
213. 74970172 c.4720G>C p.E1574Q missense 0.00002733●●●●●●
214. 75078617 c.31G>A p.G11R missense 0.00002730●●●●●●
215. 74970186 c.4706G>A p.S1569N missense 0.00002712●●●●●●
216. 74991845 c.2512G>A p.V838M missense 0.00002712●●●●●●
217. 74988701 c.2701C>T p.R901C missense 0.00002679●●●●●●
218. 75078388 c.260G>A p.R87Q missense 0.00002644●●●●●●
219. 74970072 c.4738G>A p.D1580N missense 0.00002609●●●●●●
220. 75022346 c.881T>G p.L294W missense 0.00002609●●●●●●
221. 75019663 c.1124G>A p.R375K missense 0.00002599●●●●●●
222. 75018006 c.1447G>A p.E483K missense 0.00002581●●●●●●
223. 75019083 c.1206C>G p.I402M missense 0.00002570●●●●●●
224. 74970265 c.4627G>A p.V1543I missense 0.00002564●●●●●●
225. 75022322 c.905C>T p.P302L missense 0.00002562●●●●●●
226. 74975337 c.3622G>A p.V1208I missense 0.00002556●●●●●●
227. 75022316 c.911C>T p.A304V missense 0.00002551●●●●●●
228. 74967687 c.5366T>C p.V1789A missense 0.00002550●●●●●●
229. 75019070 c.1219G>A p.G407R missense 0.00002550●●●●●●
230. 75019063 c.1226G>A p.R409H missense 0.00002544●●●●●●
231. 74988682 c.2720G>A p.G907E missense 0.00002535●●●●●●
232. 75022287 c.940G>A p.A314T missense 0.00002524●●●●●●
233. 75022287 c.940G>T p.A314S missense 0.00002524●●●●●●
234. 74970021 c.4789G>A p.E1597K missense 0.00002520●●●●●●
235. 74995369 c.2185G>C p.G729R missense 0.00002518●●●●●●
236. 74975349 c.3610G>A p.A1204T missense 0.00002516●●●●●●
237. 74995694 c.2119A>C p.S707R missense 0.00002508●●●●●●
238. 74970665 c.4546G>A p.G1516S missense 0.00002503●●●●●●
239. 74974691 c.3760A>G p.S1254G missense 0.00002494●●●●●●
240. 74995227 c.2327T>C p.V776A missense 0.00002494●●●●●●
241. 74967615 c.5438G>A p.G1813E missense 0.00002493●●●●●●
242. 74976916 c.3029A>T p.D1010V missense 0.00002493●●●●●●
243. 75022238 c.989C>T p.A330V missense 0.00002492●●●●●●
244. 74967627 c.5426T>C p.V1809A missense 0.00002491●●●●●●
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490. 75019064 c.1225C>T p.R409C missense 0.00000848●●●●●●
491. 75022311 c.916G>A p.A306T missense 0.00000848●●●●●●
492. 74970734 c.4477G>A p.G1493R missense 0.00000847●●●●●●
493. 75019753 c.1034C>A p.T345K missense 0.00000846●●●●●●
494. 75052609 c.778G>A p.A260T missense 0.00000845●●●●●●
495. 74995394 c.2160C>A p.F720L missense 0.00000845●●●●●●
496. 75019026 c.1263C>A p.N421K missense 0.00000845●●●●●●
497. 75019685 c.1102C>A p.H368N missense 0.00000844●●●●●●
498. 74970032 c.4778A>G p.D1593G missense 0.00000844●●●●●●
499. 74999248 c.1868T>C p.I623T missense 0.00000844●●●●●●
500. 75017865 c.1588C>G p.P530A missense 0.00000842●●●●●●
501. 74995386 c.2168T>G p.I723S missense 0.00000842●●●●●●
502. 75017828 c.1625C>T p.P542L missense 0.00000842●●●●●●
503. 75017823 c.1630G>A p.A544T missense 0.00000841●●●●●●
504. 74970718 c.4493C>G p.P1498R missense 0.00000841●●●●●●
505. 75017864 c.1589C>T p.P530L missense 0.00000841●●●●●●
506. 75017844 c.1609C>A p.P537T missense 0.00000841●●●●●●
507. 74995380 c.2174C>G p.P725R missense 0.00000841●●●●●●
508. 75017864 c.1589C>G p.P530R missense 0.00000841●●●●●●
509. 75017846 c.1607C>T p.P536L missense 0.00000841●●●●●●
510. 75017814 c.1639C>G p.P547A missense 0.00000841●●●●●●
511. 75017810 c.1643G>A p.R548Q missense 0.00000841●●●●●●
512. 75017847 c.1606C>G p.P536A missense 0.00000841●●●●●●
513. 74995380 c.2174C>T p.P725L missense 0.00000841●●●●●●
514. 75017796 c.1657C>T p.R553W missense 0.00000840●●●●●●
515. 74969610 c.4916C>T p.A1639V missense 0.00000840●●●●●●
516. 74967675 c.5378G>A p.C1793Y missense 0.00000839●●●●●●
517. 74995368 c.2186G>T p.G729V missense 0.00000839●●●●●●
518. 74968285 c.5179G>A p.A1727T missense 0.00000839●●●●●●
519. 74970634 c.4577G>T p.C1526F missense 0.00000839●●●●●●
520. 74969607 c.4919G>T p.R1640L missense 0.00000839●●●●●●
521. 74970635 c.4576T>A p.C1526S missense 0.00000838●●●●●●
522. 74995359 c.2195A>G p.Y732C missense 0.00000838●●●●●●
523. 74970014 c.4796T>C p.L1599P missense 0.00000838●●●●●●
524. 74995362 c.2192C>G p.T731S missense 0.00000838●●●●●●
525. 74974791 c.3660C>A p.D1220E missense 0.00000838●●●●●●
526. 74971853 c.4202C>T p.T1401M missense 0.00000837●●●●●●
527. 75019721 c.1066A>C p.T356P missense 0.00000837●●●●●●
528. 75019717 c.1070C>T p.P357L missense 0.00000837●●●●●●
529. 74974788 c.3663G>C p.E1221D missense 0.00000837●●●●●●
530. 74968282 c.5182G>A p.G1728S missense 0.00000837●●●●●●
531. 75019718 c.1069C>G p.P357A missense 0.00000837●●●●●●
532. 74971845 c.4210C>T p.H1404Y missense 0.00000836●●●●●●
533. 75022268 c.959G>C p.G320A missense 0.00000836●●●●●●
534. 74971848 c.4207G>A p.D1403N missense 0.00000836●●●●●●
535. 74970006 c.4804C>T p.H1602Y missense 0.00000836●●●●●●
536. 74969596 c.4930G>C p.E1644Q missense 0.00000835●●●●●●
537. 74970003 c.4807C>T p.R1603C missense 0.00000835●●●●●●
538. 74969593 c.4933C>T p.R1645W missense 0.00000835●●●●●●
539. 74969596 c.4930G>A p.E1644K missense 0.00000835●●●●●●
540. 74995341 c.2213G>A p.R738H missense 0.00000835●●●●●●
541. 74970676 c.4535T>G p.L1512R missense 0.00000834●●●●●●
542. 74974778 c.3673A>G p.T1225A missense 0.00000834●●●●●●
543. 74971829 c.4226C>T p.T1409I missense 0.00000834●●●●●●
544. 74971830 c.4225A>T p.T1409S missense 0.00000834●●●●●●
545. 74995331 c.2223G>A p.M741I missense 0.00000834●●●●●●
546. 74971830 c.4225A>C p.T1409P missense 0.00000834●●●●●●
547. 74974771 c.3680C>T p.P1227L missense 0.00000833●●●●●●
548. 74971827 c.4228C>T p.R1410C missense 0.00000833●●●●●●
549. 74995318 c.2236G>C p.E746Q missense 0.00000833●●●●●●
550. 74995234 c.2320C>T p.R774W missense 0.00000833●●●●●●
551. 74967594 c.5459A>G p.K1820R missense 0.00000833●●●●●●
552. 74995230 c.2324T>C p.V775A missense 0.00000833●●●●●●
553. 74975361 c.3598T>C p.F1200L missense 0.00000833●●●●●●
554. 75052582 c.805C>T p.P269S missense 0.00000833●●●●●●
555. 74971823 c.4232T>C p.M1411T missense 0.00000833●●●●●●
556. 74995233 c.2321G>A p.R774Q missense 0.00000833●●●●●●
557. 74995291 c.2263G>C p.E755Q missense 0.00000832●●●●●●
558. 74975369 c.3590G>C p.G1197A missense 0.00000832●●●●●●
559. 74967609 c.5444C>T p.P1815L missense 0.00000832●●●●●●
560. 74967648 c.5405G>A p.C1802Y missense 0.00000832●●●●●●
561. 74995279 c.2275A>G p.R759G missense 0.00000832●●●●●●
562. 74975370 c.3589G>A p.G1197R missense 0.00000832●●●●●●
563. 75052578 c.809C>T p.A270V missense 0.00000832●●●●●●
564. 74995249 c.2305G>C p.E769Q missense 0.00000832●●●●●●
565. 74971818 c.4237T>G p.C1413G missense 0.00000832●●●●●●
566. 74969928 c.4882A>G p.S1628G missense 0.00000832●●●●●●
567. 74995293 c.2261G>C p.R754T missense 0.00000832●●●●●●
568. 74995285 c.2269G>A p.G757R missense 0.00000832●●●●●●
569. 74995294 c.2260A>G p.R754G missense 0.00000832●●●●●●
570. 74995258 c.2296G>A p.G766R missense 0.00000832●●●●●●
571. 74974703 c.3748C>T p.P1250S missense 0.00000831●●●●●●
572. 75052572 c.815A>T p.Q272L missense 0.00000831●●●●●●
573. 74969949 c.4861T>G p.C1621G missense 0.00000831●●●●●●
574. 74975944 c.3400G>A p.E1134K missense 0.00000831●●●●●●
575. 74974693 c.3758A>G p.E1253G missense 0.00000831●●●●●●
576. 74988653 c.2749T>C p.Y917H missense 0.00000831●●●●●●
577. 74967613 c.5440C>T p.P1814S missense 0.00000831●●●●●●
578. 74974747 c.3704A>G p.N1235S missense 0.00000831●●●●●●
579. 74975943 c.3401A>C p.E1134A missense 0.00000831●●●●●●
580. 75022245 c.982C>A p.Q328K missense 0.00000831●●●●●●
581. 74971806 c.4249C>A p.Q1417K missense 0.00000830●●●●●●
582. 74995214 c.2340G>T p.W780C missense 0.00000830●●●●●●
583. 74974714 c.3737C>G p.T1246S missense 0.00000830●●●●●●
584. 74968264 c.5200G>A p.A1734T missense 0.00000830●●●●●●
585. 74995215 c.2339G>T p.W780L missense 0.00000830●●●●●●
586. 74976905 c.3040T>C p.C1014R missense 0.00000830●●●●●●
587. 74974720 c.3731G>C p.C1244S missense 0.00000830●●●●●●
588. 74976907 c.3038A>G p.E1013G missense 0.00000830●●●●●●
589. 75022220 c.1007C>T p.P336L missense 0.00000830●●●●●●
590. 74976893 c.3052G>T p.G1018W missense 0.00000829●●●●●●
591. 74976048 c.3296T>A p.F1099Y missense 0.00000829●●●●●●
592. 74969574 c.4952T>C p.F1651S missense 0.00000829●●●●●●
593. 74971793 c.4262C>T p.A1421V missense 0.00000829●●●●●●
594. 74995198 c.2356A>G p.I786V missense 0.00000829●●●●●●
595. 74971799 c.4256G>A p.G1419D missense 0.00000829●●●●●●
596. 74988635 c.2767G>T p.G923W missense 0.00000829●●●●●●
597. 74969571 c.4955G>A p.R1652Q missense 0.00000829●●●●●●
598. 74975406 c.3553C>A p.H1185N missense 0.00000829●●●●●●
599. 74968263 c.5201C>T p.A1734V missense 0.00000829●●●●●●
600. 74975981 c.3363T>A p.D1121E missense 0.00000828●●●●●●
601. 74975997 c.3347C>T p.S1116F missense 0.00000828●●●●●●
602. 74973403 c.4031T>C p.V1344A missense 0.00000828●●●●●●
603. 74988623 c.2779G>A p.E927K missense 0.00000828●●●●●●
604. 74968252 c.5212G>C p.G1738R missense 0.00000828●●●●●●
605. 74975983 c.3361G>A p.D1121N missense 0.00000828●●●●●●
606. 74971782 c.4273A>G p.S1425G missense 0.00000828●●●●●●
607. 74969569 c.4957C>A p.P1653T missense 0.00000828●●●●●●
608. 74968255 c.5209T>C p.C1737R missense 0.00000828●●●●●●
609. 74975985 c.3359G>A p.C1120Y missense 0.00000828●●●●●●
610. 74975979 c.3365G>C p.G1122A missense 0.00000828●●●●●●
611. 75016662 c.1693A>G p.N565D missense 0.00000827●●●●●●
612. 74975644 c.3415T>C p.C1139R missense 0.00000827●●●●●●
613. 74976878 c.3067G>A p.G1023R missense 0.00000827●●●●●●
614. 74976803 c.3142G>A p.G1048S missense 0.00000827●●●●●●
615. 74975550 c.3509A>G p.N1170S missense 0.00000827●●●●●●
616. 75002703 c.1790C>T p.A597V missense 0.00000827●●●●●●
617. 74976868 c.3077C>T p.T1026I missense 0.00000827●●●●●●
618. 74972757 c.4171G>A p.A1391T missense 0.00000827●●●●●●
619. 74975646 c.3413A>G p.E1138G missense 0.00000827●●●●●●
620. 74976881 c.3064C>T p.H1022Y missense 0.00000827●●●●●●
621. 74973410 c.4024G>A p.D1342N missense 0.00000827●●●●●●
622. 74976803 c.3142G>T p.G1048C missense 0.00000827●●●●●●
623. 74971761 c.4294A>G p.T1432A missense 0.00000827●●●●●●
624. 74972762 c.4166G>A p.R1389Q missense 0.00000827●●●●●●
625. 74975649 c.3410A>G p.D1137G missense 0.00000827●●●●●●
626. 74975539 c.3520T>A p.C1174S missense 0.00000827●●●●●●
627. 74968243 c.5221A>G p.N1741D missense 0.00000827●●●●●●
628. 74971764 c.4291A>G p.T1431A missense 0.00000827●●●●●●
629. 74975533 c.3526G>A p.D1176N missense 0.00000827●●●●●●
630. 74973478 c.3956G>C p.C1319S missense 0.00000827●●●●●●
631. 74976872 c.3073T>C p.C1025R missense 0.00000827●●●●●●
632. 74972763 c.4165C>T p.R1389W missense 0.00000827●●●●●●
633. 74973458 c.3976T>C p.F1326L missense 0.00000827●●●●●●
634. 74976865 c.3080A>G p.N1027S missense 0.00000827●●●●●●
635. 74968168 c.5296G>T p.D1766Y missense 0.00000826●●●●●●
636. 74975616 c.3443G>A p.G1148E missense 0.00000826●●●●●●
637. 75016647 c.1708C>G p.L570V missense 0.00000826●●●●●●
638. 74999192 c.1924G>A p.G642S missense 0.00000826●●●●●●
639. 74968234 c.5230G>A p.E1744K missense 0.00000826●●●●●●
640. 74973454 c.3980G>T p.R1327L missense 0.00000826●●●●●●
641. 74968179 c.5285G>C p.G1762A missense 0.00000826●●●●●●
642. 74999195 c.1921A>G p.R641G missense 0.00000826●●●●●●
643. 74968162 c.5302G>A p.A1768T missense 0.00000826●●●●●●
644. 74975580 c.3479G>A p.C1160Y missense 0.00000826●●●●●●
645. 74968216 c.5248C>A p.R1750S missense 0.00000826●●●●●●
646. 75016575 c.1780C>G p.P594A missense 0.00000826●●●●●●
647. 74968166 c.5298T>G p.D1766E missense 0.00000826●●●●●●
648. 74975592 c.3467G>T p.G1156V missense 0.00000826●●●●●●
649. 74968209 c.5255G>A p.R1752Q missense 0.00000826●●●●●●
650. 74968225 c.5239C>A p.R1747S missense 0.00000826●●●●●●
651. 75002683 c.1810G>A p.G604S missense 0.00000826●●●●●●
652. 75002683 c.1810G>T p.G604C missense 0.00000826●●●●●●
653. 75002663 c.1830G>C p.Q610H missense 0.00000825●●●●●●
654. 74969506 c.5020G>A p.A1674T missense 0.00000825●●●●●●
655. 74972796 c.4132G>C p.E1378Q missense 0.00000825●●●●●●
656. 74969533 c.4993C>T p.H1665Y missense 0.00000825●●●●●●
657. 74972790 c.4138G>A p.D1380N missense 0.00000825●●●●●●
658. 74969510 c.5016T>A p.D1672E missense 0.00000825●●●●●●
659. 75016605 c.1750T>G p.W584G missense 0.00000825●●●●●●
660. 74999170 c.1946G>A p.R649K missense 0.00000825●●●●●●
661. 74968186 c.5278T>G p.F1760V missense 0.00000825●●●●●●
662. 74969530 c.4996T>G p.Y1666D missense 0.00000825●●●●●●
663. 75016614 c.1741G>C p.G581R missense 0.00000825●●●●●●
664. 74972883 c.4045T>C p.C1349R missense 0.00000825●●●●●●
665. 75070395 c.508G>C p.G170R missense 0.00000825●●●●●●
666. 75016619 c.1736G>C p.S579T missense 0.00000825●●●●●●
667. 75002680 c.1813C>G p.Q605E missense 0.00000825●●●●●●
668. 74976523 c.3191G>A p.G1064D missense 0.00000824●●●●●●
669. 74976473 c.3241G>A p.G1081R missense 0.00000824●●●●●●
670. 74973933 c.3856G>A p.V1286I missense 0.00000824●●●●●●
671. 75070391 c.512G>A p.G171E missense 0.00000824●●●●●●
672. 74978050 c.2926C>T p.H976Y missense 0.00000824●●●●●●
673. 74971504 c.4430C>T p.T1477M missense 0.00000824●●●●●●
674. 74977971 c.3005G>T p.R1002L missense 0.00000824●●●●●●
675. 75070379 c.524C>T p.P175L missense 0.00000824●●●●●●
676. 74999167 c.1949C>T p.P650L missense 0.00000824●●●●●●
677. 74999159 c.1957A>G p.M653V missense 0.00000824●●●●●●
678. 74976529 c.3185C>T p.P1062L missense 0.00000824●●●●●●
679. 74973944 c.3845C>T p.S1282F missense 0.00000824●●●●●●
680. 74978065 c.2911A>C p.I971L missense 0.00000824●●●●●●
681. 74969365 c.5161A>G p.S1721G missense 0.00000824●●●●●●
682. 74969412 c.5114T>C p.L1705P missense 0.00000824●●●●●●
683. 74999144 c.1972C>G p.R658G missense 0.00000824●●●●●●
684. 74976555 c.3159T>A p.D1053E missense 0.00000824●●●●●●
685. 74972834 c.4094A>G p.E1365G missense 0.00000824●●●●●●
686. 74976506 c.3208G>A p.E1070K missense 0.00000824●●●●●●
687. 74973906 c.3883A>G p.M1295V missense 0.00000824●●●●●●
688. 74978020 c.2956G>A p.V986I missense 0.00000824●●●●●●
689. 74973996 c.3793G>A p.D1265N missense 0.00000824●●●●●●
690. 74977972 c.3004C>G p.R1002G missense 0.00000824●●●●●●
691. 75070380 c.523C>G p.P175A missense 0.00000824●●●●●●
692. 74969476 c.5050G>A p.D1684N missense 0.00000824●●●●●●
693. 74972861 c.4067G>A p.C1356Y missense 0.00000824●●●●●●
694. 74976538 c.3176C>T p.A1059V missense 0.00000824●●●●●●
695. 74973983 c.3806C>T p.P1269L missense 0.00000824●●●●●●
696. 74973952 c.3837C>A p.S1279R missense 0.00000824●●●●●●
697. 74973882 c.3907G>A p.D1303N missense 0.00000824●●●●●●
698. 74971543 c.4391C>G p.P1464R missense 0.00000824●●●●●●
699. 74969418 c.5108C>T p.P1703L missense 0.00000824●●●●●●
700. 74969368 c.5158G>A p.A1720T missense 0.00000824●●●●●●
701. 74999157 c.1959G>T p.M653I missense 0.00000824●●●●●●
702. 74972838 c.4090G>A p.V1364M missense 0.00000824●●●●●●
703. 74976454 c.3260A>G p.D1087G missense 0.00000824●●●●●●
704. 74978053 c.2923C>T p.R975C missense 0.00000824●●●●●●
705. 74973923 c.3866G>C p.C1289S missense 0.00000824●●●●●●
706. 74972837 c.4091T>C p.V1364A missense 0.00000824●●●●●●
707. 74976538 c.3176C>A p.A1059D missense 0.00000824●●●●●●
708. 74978043 c.2933G>C p.G978A missense 0.00000824●●●●●●
709. 74977984 c.2992G>A p.E998K missense 0.00000824●●●●●●
710. 75070388 c.515A>G p.Q172R missense 0.00000824●●●●●●
711. 74972865 c.4063G>T p.V1355L missense 0.00000824●●●●●●
712. 74999138 c.1978C>G p.R660G missense 0.00000824●●●●●●
713. 74974005 c.3784G>A p.E1262K missense 0.00000824●●●●●●
714. 74973885 c.3904A>G p.I1302V missense 0.00000824●●●●●●
715. 75070377 c.526G>A p.G176R missense 0.00000824●●●●●●
716. 74969397 c.5129A>G p.Q1710R missense 0.00000824●●●●●●
717. 74977969 c.3007G>A p.G1003S missense 0.00000824●●●●●●
718. 74999164 c.1952G>A p.G651D missense 0.00000824●●●●●●
719. 74972850 c.4078C>T p.L1360F missense 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.