SLCO1B1 variants in ExAC

SLCO1B1 gene summary
SLCO1B1 variants in

The table below lists the SLCO1B1 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. 21329738 c.388A>G p.N130D missense 0.47948557●●●●●●
2. 21331549 c.521T>C p.V174A missense 0.12943359●●●●●●
3. 21329813 c.463C>A p.P155T missense 0.11663190●●●●●●
4. 21375307 c.1747+9A>G splice site 0.05256559●●●●●●
5. 21391976 c.1929A>C p.L643F missense 0.04632220●●●●●●
6. 21375305 c.1747+7_1747+8insG splice site 0.02554613●●●●●●
7. 21349885 c.733A>G p.I245V missense 0.00762195●●●●●●
8. 21355489 c.1200C>G p.F400L missense 0.00434093●●●●●●
9. 21331860 c.633A>G p.I211M missense 0.00400674●●●●●●
10. 21358933 c.1463G>C p.G488A missense 0.00319650●●●●●●
11. 21329832 c.481+1G>T essential splice site 0.00288869●●●●●●
12. 21358965 c.1495A>G p.I499V missense 0.00248164●●●●●●
13. 21375289 c.1738C>T p.R580X nonsense 0.00163896●●●●●●
14. 21331499 c.482-11T>C splice site 0.00153653●●●●●●
15. 21331891 c.664A>G p.I222V missense 0.00098990●●●●●●
16. 21327601 c.317T>C p.I106T missense 0.00069318●●●●●●
17. 21349910 c.758G>A p.R253Q missense 0.00042019●●●●●●
18. 21355629 c.1331+9A>G splice site 0.00039338●●●●●●
19. 21325669 c.170G>A p.R57Q missense 0.00035633●●●●●●
20. 21329802 c.452A>G p.N151S missense 0.00034736●●●●●●
21. 21377774 c.1865+1G>A essential splice site 0.00031596●●●●●●
22. 21375305 c.1747+7T>C splice site 0.00027081●●●●●●
23. 21353505 c.1034C>T p.T345M missense 0.00025344●●●●●●
24. 21392079 c.2032C>T p.H678Y missense 0.00024867●●●●●●
25. 21355598 c.1309G>A p.G437R missense 0.00020031●●●●●●
26. 21358944 c.1474T>A p.S492T missense 0.00019825●●●●●●
27. 21294593 c.84+1G>A essential splice site 0.00019216●●●●●●
28. 21294509 c.1A>T p.M1L missense 0.00018314●●●●●●
29. 21391924 c.1877T>A p.L626X nonsense 0.00015040●●●●●●
30. 21370177 c.1622A>T p.Q541L missense 0.00013192●●●●●●
31. 21355585 c.1296C>A p.N432K missense 0.00010819●●●●●●
32. 21392092 c.2045C>T p.S682F missense 0.00010769●●●●●●
33. 21325668 c.169C>T p.R57W missense 0.00010768●●●●●●
34. 21375233 c.1683-1G>T essential splice site 0.00010763●●●●●●
35. 21353478 c.1007C>G p.P336R missense 0.00010384●●●●●●
36. 21325726 c.226+1G>A essential splice site 0.00010306●●●●●●
37. 21375283 c.1732G>A p.V578I missense 0.00009099●●●●●●
38. 21355611 c.1322C>A p.T441N missense 0.00008381●●●●●●
39. 21355515 c.1226A>G p.K409R missense 0.00008323●●●●●●
40. 21358843 c.1373A>T p.Y458F missense 0.00007439●●●●●●
41. 21331629 c.601A>G p.K201E missense 0.00007424●●●●●●
42. 21331898 c.671T>A p.F224Y missense 0.00007423●●●●●●
43. 21331546 c.518A>G p.Y173C missense 0.00007420●●●●●●
44. 21355502 c.1213G>A p.V405I missense 0.00006667●●●●●●
45. 21377773 c.1865C>T p.S622L missense 0.00006651●●●●●●
46. 21331865 c.638A>G p.N213S missense 0.00006606●●●●●●
47. 21329805 c.455G>C p.R152T missense 0.00005790●●●●●●
48. 21331866 c.639T>A p.N213K missense 0.00005780●●●●●●
49. 21377736 c.1828C>T p.R610C missense 0.00005774●●●●●●
50. 21331570 c.542G>A p.R181H missense 0.00005770●●●●●●
51. 21349909 c.757C>T p.R253X nonsense 0.00005767●●●●●●
52. 21325710 c.211G>A p.G71R missense 0.00005183●●●●●●
53. 21353607 c.1135+1G>A essential splice site 0.00005067●●●●●●
54. 21353551 c.1080C>G p.F360L missense 0.00004991●●●●●●
55. 21294574 c.66A>T p.R22S missense 0.00004985●●●●●●
56. 21329760 c.410C>T p.S137L missense 0.00004959●●●●●●
57. 21325651 c.152C>T p.S51F missense 0.00004956●●●●●●
58. 21331605 c.577C>T p.L193F missense 0.00004945●●●●●●
59. 21392023 c.1976C>G p.S659X nonsense 0.00004204●●●●●●
60. 21392025 c.1978G>C p.E660Q missense 0.00004199●●●●●●
61. 21355467 c.1178G>A p.G393E missense 0.00004191●●●●●●
62. 21329730 c.380C>G p.T127S missense 0.00004139●●●●●●
63. 21331663 c.628+7T>C splice site 0.00004133●●●●●●
64. 21327582 c.298G>A p.G100S missense 0.00004128●●●●●●
65. 21331536 c.508A>T p.M170L missense 0.00004123●●●●●●
66. 21377720 c.1812_1814delCAA p.Asn606del inframe 0.00004123●●●●●●
67. 21350002 c.850A>C p.N284H missense 0.00004121●●●●●●
68. 21375303 c.1747+5G>A splice site 0.00004108●●●●●●
69. 21353486 c.1015G>C p.V339L missense 0.00003423●●●●●●
70. 21327519 c.235C>T p.L79F missense 0.00003403●●●●●●
71. 21327522 c.238G>T p.V80L missense 0.00003389●●●●●●
72. 21392021 c.1974_1975delAT p.Ser659ArgfsTer8 frameshift 0.00003368●●●●●●
73. 21329838 c.481+7A>G splice site 0.00003325●●●●●●
74. 21370045 c.1498-8C>T splice site 0.00003313●●●●●●
75. 21375290 c.1739G>A p.R580Q missense 0.00003312●●●●●●
76. 21370046 c.1498-7G>A splice site 0.00003311●●●●●●
77. 21329735 c.385A>G p.I129V missense 0.00003310●●●●●●
78. 21370235 c.1680_1682+1delTAAG essential splice site 0.00003308●●●●●●
79. 21331930 c.703G>A p.V235M missense 0.00003300●●●●●●
80. 21331513 c.485G>A p.C162Y missense 0.00003300●●●●●●
81. 21377737 c.1829G>A p.R610H missense 0.00003300●●●●●●
82. 21331922 c.695A>C p.K232T missense 0.00003299●●●●●●
83. 21325605 c.106C>T p.L36F missense 0.00003298●●●●●●
84. 21325609 c.110G>C p.S37T missense 0.00003298●●●●●●
85. 21370128 c.1573C>T p.P525S missense 0.00003298●●●●●●
86. 21349880 c.728G>A p.S243N missense 0.00003296●●●●●●
87. 21349918 c.766G>A p.G256R missense 0.00003296●●●●●●
88. 21349895 c.743C>T p.T248I missense 0.00003295●●●●●●
89. 0 c.-61-3T>C splice site 0.00003239●●●●●●
90. 21353443 c.972dupT p.Gln327ProfsTer4 frameshift 0.00003188●●●●●●
91. 21353463 c.992G>A p.S331N missense 0.00002679●●●●●●
92. 21325711 c.212G>A p.G71E missense 0.00002610●●●●●●
93. 21327534 c.250G>T p.V84L missense 0.00002515●●●●●●
94. 21294599 c.84+7delT splice site 0.00002512●●●●●●
95. 21391925 c.1878G>C p.L626F missense 0.00002507●●●●●●
96. 21350096 c.944G>A p.G315E missense 0.00002493●●●●●●
97. 21353564 c.1093C>T p.Q365X nonsense 0.00002493●●●●●●
98. 21353558 c.1087G>A p.V363I missense 0.00002493●●●●●●
99. 21294563 c.55A>T p.K19X nonsense 0.00002491●●●●●●
100. 21294546 c.38C>A p.A13E missense 0.00002489●●●●●●
101. 21375293 c.1742C>T p.A581V missense 0.00002487●●●●●●
102. 21370045 c.1498-8C>A splice site 0.00002485●●●●●●
103. 21375278 c.1727C>G p.S576X nonsense 0.00002481●●●●●●
104. 21375280 c.1729A>G p.M577V missense 0.00002481●●●●●●
105. 21331856 c.629G>T p.G210V missense 0.00002479●●●●●●
106. 21370226 c.1671G>A p.M557I missense 0.00002478●●●●●●
107. 21358911 c.1441T>C p.Y481H missense 0.00002477●●●●●●
108. 21358914 c.1444A>G p.I482V missense 0.00002477●●●●●●
109. 21350056 c.904A>T p.N302Y missense 0.00002476●●●●●●
110. 21327598 c.314G>T p.G105V missense 0.00002476●●●●●●
111. 21377692 c.1784T>G p.I595S missense 0.00002474●●●●●●
112. 21377701 c.1793C>T p.T598M missense 0.00002474●●●●●●
113. 21331626 c.598G>A p.A200T missense 0.00002474●●●●●●
114. 21331621 c.593A>G p.D198G missense 0.00002473●●●●●●
115. 21370119 c.1564G>T p.G522C missense 0.00002473●●●●●●
116. 21370171 c.1616C>T p.A539V missense 0.00002473●●●●●●
117. 21350027 c.875C>T p.A292V missense 0.00002473●●●●●●
118. 21331569 c.541C>T p.R181C missense 0.00002473●●●●●●
119. 21349930 c.778C>T p.L260F missense 0.00002472●●●●●●
120. 21353452 c.981G>T p.Q327H missense 0.00001901●●●●●●
121. 21353457 c.986T>G p.F329C missense 0.00001839●●●●●●
122. 21353462 c.991A>G p.S331G missense 0.00001791●●●●●●
123. 21353479 c.1008_1009insCT p.Tyr338CysfsTer8 frameshift 0.00001728●●●●●●
124. 21355448 c.1159G>A p.A387T missense 0.00001694●●●●●●
125. 21392013 c.1966A>G p.I656V missense 0.00001690●●●●●●
126. 21355608 c.1319T>G p.M440R missense 0.00001675●●●●●●
127. 21358791 c.1332-11T>C splice site 0.00001674●●●●●●
128. 21325692 c.193C>G p.L65V missense 0.00001672●●●●●●
129. 21355503 c.1214T>C p.V405A missense 0.00001666●●●●●●
130. 21355587 c.1298A>G p.K433R missense 0.00001665●●●●●●
131. 21294511 c.3G>A p.Met1? missense 0.00001665●●●●●●
132. 21353547 c.1076T>C p.V359A missense 0.00001664●●●●●●
133. 21355535 c.1246G>A p.V416M missense 0.00001663●●●●●●
134. 21353571 c.1100A>G p.Y367C missense 0.00001663●●●●●●
135. 21329831 c.481G>A p.G161S missense 0.00001660●●●●●●
136. 21294555 c.47C>T p.S16L missense 0.00001660●●●●●●
137. 21294542 c.34G>T p.E12X nonsense 0.00001660●●●●●●
138. 21294565 c.57delG p.Thr21GlnfsTer7 frameshift 0.00001660●●●●●●
139. 21358971 c.1497+4A>G splice site 0.00001655●●●●●●
140. 21375280 c.1729A>C p.M577L missense 0.00001654●●●●●●
141. 21377764 c.1856C>T p.T619I missense 0.00001653●●●●●●
142. 21329745 c.395C>T p.S132L missense 0.00001653●●●●●●
143. 21358900 c.1430A>G p.N477S missense 0.00001652●●●●●●
144. 21358932 c.1462G>A p.G488S missense 0.00001652●●●●●●
145. 21358944 c.1474_1475insC p.S493Kfs*4 frameshift 0.00001652●●●●●●
146. 21358854 c.1384G>A p.D462N missense 0.00001652●●●●●●
147. 21325653 c.154A>G p.I52V missense 0.00001652●●●●●●
148. 21358935 c.1465T>A p.C489S missense 0.00001652●●●●●●
149. 21358921 c.1451C>A p.P484H missense 0.00001652●●●●●●
150. 21325644 c.145A>G p.K49E missense 0.00001651●●●●●●
151. 21358884 c.1414C>T p.P472S missense 0.00001651●●●●●●
152. 21370219 c.1664A>G p.H555R missense 0.00001651●●●●●●
153. 21370063 c.1508A>G p.N503S missense 0.00001651●●●●●●
154. 21325627 c.128T>C p.L43P missense 0.00001650●●●●●●
155. 21331901 c.674C>T p.T225I missense 0.00001650●●●●●●
156. 21327615 c.331A>C p.T111P missense 0.00001650●●●●●●
157. 21325632 c.133G>A p.A45T missense 0.00001650●●●●●●
158. 21377745 c.1837T>C p.C613R missense 0.00001650●●●●●●
159. 21377649 c.1748-7A>G splice site 0.00001650●●●●●●
160. 21331638 c.610C>T p.H204Y missense 0.00001650●●●●●●
161. 21377650 c.1748-6T>C splice site 0.00001650●●●●●●
162. 21331940 c.713G>A p.G238E missense 0.00001650●●●●●●
163. 21377673 c.1765A>G p.I589V missense 0.00001649●●●●●●
164. 21377704 c.1796G>A p.C599Y missense 0.00001649●●●●●●
165. 21377713 c.1805G>T p.W602L missense 0.00001649●●●●●●
166. 21331557 c.529G>C p.G177R missense 0.00001649●●●●●●
167. 21331622 c.594delT p.Phe199SerfsTer11 frameshift 0.00001649●●●●●●
168. 21377686 c.1778C>G p.A593G missense 0.00001649●●●●●●
169. 21370183 c.1628T>G p.L543W missense 0.00001649●●●●●●
170. 21331556 c.528delG p.Gly177ValfsTer7 frameshift 0.00001649●●●●●●
171. 21377689 c.1781T>C p.L594P missense 0.00001649●●●●●●
172. 21370167 c.1612G>A p.V538I missense 0.00001649●●●●●●
173. 21331555 c.527T>C p.M176T missense 0.00001649●●●●●●
174. 21377692 c.1784T>C p.I595T missense 0.00001649●●●●●●
175. 21370144 c.1589G>A p.C530Y missense 0.00001649●●●●●●
176. 21349915 c.763G>C p.V255L missense 0.00001648●●●●●●
177. 21331588 c.560C>T p.P187L missense 0.00001648●●●●●●
178. 21349960 c.808A>C p.I270L missense 0.00001648●●●●●●
179. 21353435 c.971-7T>G splice site 0.00001219●●●●●●
180. 21353443 c.972delT p.Phe326SerfsTer19 frameshift 0.00001063●●●●●●
181. 21353455 c.984delT p.Phe329LeufsTer16 frameshift 0.00000938●●●●●●
182. 21325721 c.222A>T p.E74D missense 0.00000918●●●●●●
183. 21327503 c.227-8C>G splice site 0.00000882●●●●●●
184. 21325714 c.215G>A p.S72N missense 0.00000877●●●●●●
185. 21353471 c.1000A>T p.T334S missense 0.00000875●●●●●●
186. 21353473 c.1002delT p.Asn335IlefsTer10 frameshift 0.00000873●●●●●●
187. 21355434 c.1145C>G p.T382S missense 0.00000861●●●●●●
188. 21353485 c.1014T>A p.Y338X nonsense 0.00000857●●●●●●
189. 21355626 c.1331+6T>C splice site 0.00000854●●●●●●
190. 21355627 c.1331+7A>G splice site 0.00000854●●●●●●
191. 21391975 c.1928T>G p.L643X nonsense 0.00000852●●●●●●
192. 21391989 c.1942A>G p.K648E missense 0.00000852●●●●●●
193. 21325705 c.206T>C p.I69T missense 0.00000852●●●●●●
194. 21391995 c.1948A>C p.K650Q missense 0.00000851●●●●●●
195. 21391966 c.1919A>G p.Y640C missense 0.00000848●●●●●●
196. 21391963 c.1916T>C p.L639S missense 0.00000847●●●●●●
197. 21377781 c.1865+8G>A splice site 0.00000846●●●●●●
198. 21353502 c.1031T>G p.L344W missense 0.00000846●●●●●●
199. 21392014 c.1967_1968insC p.Asn657GlnfsTer11 frameshift 0.00000845●●●●●●
200. 21325699 c.200G>C p.G67A missense 0.00000843●●●●●●
201. 21392017 c.1970A>G p.N657S missense 0.00000843●●●●●●
202. 21355616 c.1327G>C p.D443H missense 0.00000841●●●●●●
203. 21350123 c.970+1G>A essential splice site 0.00000841●●●●●●
204. 21350123 c.970+1G>T essential splice site 0.00000841●●●●●●
205. 21391959 c.1912G>C p.V638L missense 0.00000841●●●●●●
206. 21353517 c.1046T>C p.V349A missense 0.00000840●●●●●●
207. 21355614 c.1325A>G p.Y442C missense 0.00000840●●●●●●
208. 21355466 c.1177G>C p.G393R missense 0.00000839●●●●●●
209. 21377777 c.1865+4A>T splice site 0.00000838●●●●●●
210. 21327534 c.250G>A p.V84M missense 0.00000838●●●●●●
211. 21355610 c.1321A>G p.T441A missense 0.00000838●●●●●●
212. 21327646 c.359+3A>C splice site 0.00000837●●●●●●
213. 21391933 c.1886C>G p.S629C missense 0.00000836●●●●●●
214. 21353526 c.1055A>G p.Y352C missense 0.00000836●●●●●●
215. 21391943 c.1896A>C p.L632F missense 0.00000836●●●●●●
216. 21355476 c.1187T>A p.I396N missense 0.00000836●●●●●●
217. 21391921 c.1874A>C p.Y625S missense 0.00000836●●●●●●
218. 21350110 c.958A>T p.K320X nonsense 0.00000835●●●●●●
219. 21355602 c.1313T>C p.L438P missense 0.00000835●●●●●●
220. 21353529 c.1058T>C p.I353T missense 0.00000835●●●●●●
221. 21353532 c.1061G>A p.G354D missense 0.00000835●●●●●●
222. 21355500 c.1211C>T p.T404I missense 0.00000834●●●●●●
223. 21350108 c.956delC p.Asn321MetfsTer2 frameshift 0.00000834●●●●●●
224. 21353544 c.1073A>C p.Y358S missense 0.00000833●●●●●●
225. 21392052 c.2005A>C p.N669H missense 0.00000833●●●●●●
226. 21355578 c.1289G>T p.C430F missense 0.00000832●●●●●●
227. 21355524 c.1235G>T p.C412F missense 0.00000832●●●●●●
228. 21294579 c.71G>T p.C24F missense 0.00000832●●●●●●
229. 21294514 c.6C>A p.D2E missense 0.00000832●●●●●●
230. 21355524 c.1235G>A p.C412Y missense 0.00000832●●●●●●
231. 21355571 c.1282A>C p.I428L missense 0.00000832●●●●●●
232. 21355562 c.1273T>G p.Y425D missense 0.00000832●●●●●●
233. 21355561 c.1272A>C p.L424F missense 0.00000832●●●●●●
234. 21355523 c.1234T>G p.C412G missense 0.00000832●●●●●●
235. 21350098 c.946A>G p.K316E missense 0.00000832●●●●●●
236. 21353563 c.1092G>T p.E364D missense 0.00000831●●●●●●
237. 21355556 c.1267C>G p.L423V missense 0.00000831●●●●●●
238. 21353559 c.1088T>C p.V363A missense 0.00000831●●●●●●
239. 21392059 c.2012A>G p.E671G missense 0.00000831●●●●●●
240. 21355554 c.1265A>G p.Y422C missense 0.00000831●●●●●●
241. 21377774 c.1865+1G>T essential splice site 0.00000831●●●●●●
242. 21294573 c.65G>C p.R22T missense 0.00000831●●●●●●
243. 21294537 c.29C>T p.T10I missense 0.00000830●●●●●●
244. 21350090 c.938A>G p.N313S missense 0.00000830●●●●●●
245. 21294567 c.59A>C p.K20T missense 0.00000830●●●●●●
246. 21325674 c.175T>C p.F59L missense 0.00000829●●●●●●
247. 21327644 c.359+1G>C essential splice site 0.00000829●●●●●●
248. 21392085 c.2038G>T p.V680F missense 0.00000829●●●●●●
249. 21375227 c.1683-7G>A splice site 0.00000829●●●●●●
250. 21392109 c.2062G>A p.E688K missense 0.00000828●●●●●●
251. 21392088 c.2041C>A p.P681T missense 0.00000828●●●●●●
252. 21392107 c.2060G>T p.S687I missense 0.00000828●●●●●●
253. 21325663 c.164T>A p.I55K missense 0.00000828●●●●●●
254. 21392112 c.2065A>G p.T689A missense 0.00000828●●●●●●
255. 21370046 c.1498-7G>C splice site 0.00000828●●●●●●
256. 21325667 c.168A>T p.E56D missense 0.00000828●●●●●●
257. 21358973 c.1497+6T>C splice site 0.00000828●●●●●●
258. 21329818 c.468G>T p.E156D missense 0.00000828●●●●●●
259. 21329790 c.440T>C p.I147T missense 0.00000827●●●●●●
260. 21329793 c.443T>G p.Leu148Ter nonsense 0.00000827●●●●●●
261. 21370233 c.1678_1679insTC p.Lys561LeufsTer8 frameshift 0.00000827●●●●●●
262. 21375283 c.1732G>C p.V578L missense 0.00000827●●●●●●
263. 21329803 c.453T>A p.N151K missense 0.00000827●●●●●●
264. 21375243 c.1692A>T p.Q564H missense 0.00000827●●●●●●
265. 21329751 c.401A>C p.N134T missense 0.00000827●●●●●●
266. 21375284 c.1733T>G p.V578G missense 0.00000827●●●●●●
267. 21375268 c.1717G>T p.G573C missense 0.00000827●●●●●●
268. 21375266 c.1715T>C p.L572P missense 0.00000827●●●●●●
269. 21375287 c.1736T>C p.I579T missense 0.00000827●●●●●●
270. 21329781 c.431T>G p.I144S missense 0.00000827●●●●●●
271. 21358825 c.1355G>C p.R452T missense 0.00000827●●●●●●
272. 21370057 c.1502T>C p.F501S missense 0.00000826●●●●●●
273. 21358876 c.1406A>G p.Q469R missense 0.00000826●●●●●●
274. 21325653 c.154A>T p.I52F missense 0.00000826●●●●●●
275. 21358948 c.1478G>A p.S493N missense 0.00000826●●●●●●
276. 21331859 c.632T>C p.I211T missense 0.00000826●●●●●●
277. 21358945 c.1475C>A p.S492X nonsense 0.00000826●●●●●●
278. 21331659 c.628+3A>G splice site 0.00000826●●●●●●
279. 21358953 c.1483A>C p.N495H missense 0.00000826●●●●●●
280. 21358892 c.1422T>A p.C474X nonsense 0.00000826●●●●●●
281. 21358871 c.1401A>C p.E467D missense 0.00000826●●●●●●
282. 21358927 c.1457T>A p.L486Q missense 0.00000826●●●●●●
283. 21370177 c.1622delA p.Val542SerfsTer2 frameshift 0.00000825●●●●●●
284. 21331948 c.721G>T p.D241Y missense 0.00000825●●●●●●
285. 21331927 c.700T>G p.Y234D missense 0.00000825●●●●●●
286. 21377658 c.1750G>A p.G584R missense 0.00000825●●●●●●
287. 21370210 c.1655G>A p.G552D missense 0.00000825●●●●●●
288. 21377749 c.1841G>T p.R614M missense 0.00000825●●●●●●
289. 21331506 c.482-4A>T splice site 0.00000825●●●●●●
290. 21377699 c.1791delA p.Thr598ArgfsTer3 frameshift 0.00000825●●●●●●
291. 21377683 c.1775G>A p.G592E missense 0.00000825●●●●●●
292. 21331895 c.668G>T p.G223V missense 0.00000825●●●●●●
293. 21331539 c.511T>C p.W171R missense 0.00000825●●●●●●
294. 21331963 c.727+9A>C splice site 0.00000825●●●●●●
295. 21331940 c.713G>C p.G238A missense 0.00000825●●●●●●
296. 21377716 c.1808C>T p.S603F missense 0.00000825●●●●●●
297. 21377659 c.1751G>A p.G584E missense 0.00000825●●●●●●
298. 21331937 c.710T>C p.I237T missense 0.00000825●●●●●●
299. 21325623 c.124A>C p.T42P missense 0.00000825●●●●●●
300. 21370186 c.1631A>G p.N544S missense 0.00000825●●●●●●
301. 21331630 c.602_604delAAG p.Glu202del inframe 0.00000825●●●●●●
302. 21331522 c.494A>C p.E165A missense 0.00000825●●●●●●
303. 21377677 c.1769delA p.Y590Ffs*5 frameshift 0.00000825●●●●●●
304. 21377694 c.1786G>T p.D596Y missense 0.00000825●●●●●●
305. 21325615 c.116T>C p.I39T missense 0.00000825●●●●●●
306. 21327618 c.334G>A p.A112T missense 0.00000825●●●●●●
307. 21325624 c.125C>T p.T42I missense 0.00000825●●●●●●
308. 21370072 c.1517_1518insT p.Leu507PhefsTer17 frameshift 0.00000825●●●●●●
309. 21377664 c.1756C>G p.L586V missense 0.00000825●●●●●●
310. 21331943 c.716A>C p.Y239S missense 0.00000825●●●●●●
311. 21325626 c.127C>G p.L43V missense 0.00000825●●●●●●
312. 21370198 c.1643C>T p.S548F missense 0.00000825●●●●●●
313. 21331639 c.611A>G p.H204R missense 0.00000825●●●●●●
314. 21331888 c.661A>G p.I221V missense 0.00000825●●●●●●
315. 21331522 c.494A>G p.E165G missense 0.00000825●●●●●●
316. 21331627 c.599C>T p.A200V missense 0.00000825●●●●●●
317. 21377701 c.1793C>G p.T598R missense 0.00000825●●●●●●
318. 21331906 c.679G>A p.G227R missense 0.00000825●●●●●●
319. 21331889 c.662T>G p.I221S missense 0.00000825●●●●●●
320. 21377656 c.1748G>A p.G583E missense 0.00000825●●●●●●
321. 21370087 c.1532G>A p.G511D missense 0.00000825●●●●●●
322. 21349900 c.748A>G p.T250A missense 0.00000824●●●●●●
323. 21370126 c.1571G>A p.C524Y missense 0.00000824●●●●●●
324. 21349979 c.827T>G p.F276C missense 0.00000824●●●●●●
325. 21349893 c.741A>G p.I247M missense 0.00000824●●●●●●
326. 21349922 c.770C>G p.A257G missense 0.00000824●●●●●●
327. 21349974 c.822A>G p.I274M missense 0.00000824●●●●●●
328. 21370173 c.1618A>G p.I540V missense 0.00000824●●●●●●
329. 21331615 c.587T>C p.I196T missense 0.00000824●●●●●●
330. 21325580 c.85-4T>G splice site 0.00000824●●●●●●
331. 21349973 c.821T>C p.I274T missense 0.00000824●●●●●●
332. 21349949 c.797G>A p.G266E missense 0.00000824●●●●●●
333. 21349892 c.740T>A p.I247K missense 0.00000824●●●●●●
334. 21349912 c.760T>C p.W254R missense 0.00000824●●●●●●
335. 21370129 c.1574C>T p.P525L missense 0.00000824●●●●●●
336. 21349981 c.829T>G p.F277V missense 0.00000824●●●●●●
337. 21350002 c.850A>G p.N284D missense 0.00000824●●●●●●
338. 21349928 c.776G>A p.W259X nonsense 0.00000824●●●●●●
339. 21325585 c.86T>A p.M29K missense 0.00000824●●●●●●
340. 21349986 c.834C>G p.F278L missense 0.00000824●●●●●●
341. 21331587 c.559C>G p.P187A missense 0.00000824●●●●●●
342. 21370108 c.1553C>G p.S518X nonsense 0.00000824●●●●●●
343. 21349975 c.823C>A p.P275T missense 0.00000824●●●●●●
344. 21331555 c.527T>G p.M176R missense 0.00000824●●●●●●
345. 21370163 c.1608T>A p.F536L missense 0.00000824●●●●●●
346. 21331546 c.518A>C p.Y173S missense 0.00000824●●●●●●
347. 21349993 c.841C>G p.Q281E missense 0.00000824●●●●●●
348. 21349951 c.799C>G p.L267V missense 0.00000824●●●●●●
349. 21350006 c.854A>G p.K285R missense 0.00000824●●●●●●
350. 21349894 c.742_743delAC p.Thr248SerfsTer3 frameshift 0.00000824●●●●●●
351. 21370122 c.1567G>A p.E523K missense 0.00000824●●●●●●
352. 21349976 c.824C>A p.P275Q missense 0.00000824●●●●●●
353. 21325599 c.100C>G p.L34V missense 0.00000824●●●●●●
354. 21331563 c.535A>G p.M179V missense 0.00000824●●●●●●
355. 21331593 c.565_566insTACC p.Leu191ThrfsTer8 frameshift 0.00000824●●●●●●
356. 21331600 c.572T>C p.L191S missense 0.00000824●●●●●●
357. 21350032 c.880C>G p.L294V missense 0.00000824●●●●●●
358. 21349949 c.797G>T p.G266V missense 0.00000824●●●●●●
359. 21349972 c.820A>G p.I274V 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.