LRP1 variants in ExAC

LRP1 gene summary
LRP1 variants in

The table below lists the LRP1 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. 57589784 c.8699A>C p.Q2900P missense 0.99695998●●●●●●
2. 57589865 c.8702-5C>T splice site 0.61602352●●●●●●
3. 57590758 c.8893-7C>T splice site 0.36673707●●●●●●
4. 57567762 c.3546C>T p.C1182C splice site 0.35464092●●●●●●
5. 57588491 c.8191+9C>T splice site 0.05464656●●●●●●
6. 57588127 c.7919-10C>T splice site 0.05221825●●●●●●
7. 57578673 c.6238G>A p.D2080N missense 0.02117672●●●●●●
8. 57539082 c.650C>T p.A217V missense 0.01758251●●●●●●
9. 57596324 c.10711+4C>T splice site 0.00447944●●●●●●
10. 57556220 c.2323G>C p.A775P missense 0.00361609●●●●●●
11. 57569339 c.3644G>A p.G1215E missense 0.00354212●●●●●●
12. 57587039 c.7636G>A p.G2546S missense 0.00304828●●●●●●
13. 57532232 c.68-10C>T splice site 0.00256580●●●●●●
14. 57599465 c.11590+5C>G splice site 0.00246351●●●●●●
15. 57587715 c.7838G>A p.R2613Q missense 0.00218744●●●●●●
16. 57591424 c.9259C>T p.H3087Y missense 0.00217538●●●●●●
17. 57556236 c.2339C>T p.T780I missense 0.00201829●●●●●●
18. 57602881 c.12161A>T p.Y4054F missense 0.00200840●●●●●●
19. 57603544 c.12332G>A p.R4111H missense 0.00193779●●●●●●
20. 57577915 c.5977C>T p.R1993W missense 0.00183441●●●●●●
21. 0 c.7555+12delG splice site 0.00182033●●●●●●
22. 57556089 c.2203-11T>C splice site 0.00177211●●●●●●
23. 57598512 c.11174G>A p.G3725E missense 0.00148947●●●●●●
24. 57590957 c.9076+9C>T splice site 0.00134369●●●●●●
25. 57556205 c.2308C>T p.R770W missense 0.00121081●●●●●●
26. 57599466 c.11590+6G>A splice site 0.00114512●●●●●●
27. 57585281 c.7415A>G p.N2472S missense 0.00114236●●●●●●
28. 57590065 c.8892+5G>T splice site 0.00099959●●●●●●
29. 57603920 c.12548T>G p.V4183G missense 0.00092711●●●●●●
30. 57598475 c.11137G>A p.G3713R missense 0.00085089●●●●●●
31. 57605313 c.13135G>A p.G4379S missense 0.00081173●●●●●●
32. 57590915 c.9043G>A p.G3015S missense 0.00070073●●●●●●
33. 57590052 c.8884G>A p.G2962S missense 0.00069108●●●●●●
34. 57599130 c.11336-4A>G splice site 0.00068174●●●●●●
35. 57597253 c.10900G>A p.A3634T missense 0.00063457●●●●●●
36. 57589510 c.8507T>C p.V2836A missense 0.00062691●●●●●●
37. 57590760 c.8893-5T>C splice site 0.00060978●●●●●●
38. 57599365 c.11495G>C p.G3832A missense 0.00059552●●●●●●
39. 57560722 c.2807_2808insC p.Asn939GlnfsTer18 frameshift 0.00053315●●●●●●
40. 57606021 c.13471G>C p.D4491H missense 0.00052418●●●●●●
41. 57592066 c.9410C>T p.T3137M missense 0.00051510●●●●●●
42. 57587773 c.7896C>A p.D2632E missense 0.00050812●●●●●●
43. 57556751 c.2515G>A p.G839S missense 0.00045607●●●●●●
44. 57601891 c.11930C>T p.S3977L missense 0.00042242●●●●●●
45. 57578974 c.6449G>A p.R2150Q missense 0.00038064●●●●●●
46. 57604218 c.12709T>C p.W4237R missense 0.00033090●●●●●●
47. 57589926 c.8758G>A p.E2920K missense 0.00032511●●●●●●
48. 57597298 c.10945A>G p.T3649A missense 0.00032229●●●●●●
49. 57600445 c.11780G>A p.R3927H missense 0.00031436●●●●●●
50. 57571380 c.4361+6C>T splice site 0.00029952●●●●●●
51. 57602950 c.12230C>G p.T4077R missense 0.00029786●●●●●●
52. 57556211 c.2314G>A p.V772I missense 0.00028829●●●●●●
53. 57549870 c.1228-7G>A splice site 0.00027038●●●●●●
54. 57603859 c.12487A>G p.S4163G missense 0.00026656●●●●●●
55. 57574160 c.5284G>A p.G1762R missense 0.00025548●●●●●●
56. 57605573 c.13234G>A p.V4412I missense 0.00025346●●●●●●
57. 57600505 c.11840G>A p.R3947Q missense 0.00024108●●●●●●
58. 57535178 c.212G>A p.R71Q missense 0.00023956●●●●●●
59. 57573247 c.4874G>A p.R1625H missense 0.00023129●●●●●●
60. 57549869 c.1228-8C>T splice site 0.00022888●●●●●●
61. 57560709 c.2798-4C>A splice site 0.00022701●●●●●●
62. 57569496 c.3793+8A>G splice site 0.00022568●●●●●●
63. 57597283 c.10930_10932delGAG p.Glu3645del inframe 0.00021529●●●●●●
64. 57590856 c.8984G>A p.R2995H missense 0.00020673●●●●●●
65. 57588432 c.8141C>T p.T2714M missense 0.00019900●●●●●●
66. 57589676 c.8591G>A p.R2864H missense 0.00019037●●●●●●
67. 57602874 c.12154G>C p.V4052L missense 0.00019022●●●●●●
68. 57572747 c.4681G>A p.V1561M missense 0.00018962●●●●●●
69. 57600524 c.11859C>T p.N3953N splice site 0.00018386●●●●●●
70. 57587096 c.7684+9C>A splice site 0.00017453●●●●●●
71. 57572165 c.4385G>A p.R1462H missense 0.00016541●●●●●●
72. 57581131 c.6923C>T p.T2308M missense 0.00016492●●●●●●
73. 57572756 c.4690G>A p.A1564T missense 0.00016489●●●●●●
74. 57550644 c.1502C>T p.A501V missense 0.00016098●●●●●●
75. 57575018 c.5606G>A p.R1869H missense 0.00015791●●●●●●
76. 57590913 c.9041G>A p.R3014H missense 0.00015663●●●●●●
77. 57604105 c.12596C>A p.T4199N missense 0.00015281●●●●●●
78. 57522817 c.67+3G>A splice site 0.00015000●●●●●●
79. 57579382 c.6532C>T p.R2178W missense 0.00014871●●●●●●
80. 57589107 c.8362G>A p.V2788I missense 0.00014832●●●●●●
81. 57597304 c.10951G>A p.V3651M missense 0.00014706●●●●●●
82. 57586960 c.7557G>A p.A2519A splice site 0.00014457●●●●●●
83. 57579368 c.6518G>A p.R2173Q missense 0.00014422●●●●●●
84. 57595696 c.10594+8G>A splice site 0.00014084●●●●●●
85. 57604152 c.12643C>T p.R4215W missense 0.00014060●●●●●●
86. 57593182 c.9864C>T p.D3288D splice site 0.00014042●●●●●●
87. 57577630 c.5867G>A p.R1956H missense 0.00014008●●●●●●
88. 57588130 c.7919-7C>T splice site 0.00013921●●●●●●
89. 57603579 c.12367T>G p.L4123V missense 0.00013206●●●●●●
90. 57538812 c.506G>A p.G169D missense 0.00013186●●●●●●
91. 57584802 c.7236+10C>T splice site 0.00012981●●●●●●
92. 57590031 c.8863G>A p.D2955N missense 0.00012546●●●●●●
93. 57589660 c.8575G>A p.G2859S missense 0.00012407●●●●●●
94. 57567662 c.3446C>T p.S1149L missense 0.00012357●●●●●●
95. 57556673 c.2437G>C p.G813R missense 0.00012339●●●●●●
96. 57556707 c.2471G>A p.S824N missense 0.00012291●●●●●●
97. 57604635 c.12889G>A p.G4297S missense 0.00011852●●●●●●
98. 57550064 c.1415G>A p.R472Q missense 0.00011808●●●●●●
99. 57547992 c.843C>T p.H281H splice site 0.00011706●●●●●●
100. 57600297 c.11632A>C p.I3878L missense 0.00011572●●●●●●
101. 57573330 c.4957G>A p.V1653I missense 0.00011024●●●●●●
102. 57578158 c.6109C>T p.R2037W missense 0.00010712●●●●●●
103. 57556158 c.2261A>T p.Y754F missense 0.00010708●●●●●●
104. 57579331 c.6481G>C p.V2161L missense 0.00010043●●●●●●
105. 57589047 c.8309-7C>G splice site 0.00009912●●●●●●
106. 57604647 c.12901G>A p.D4301N missense 0.00009409●●●●●●
107. 57598539 c.11194+7A>T splice site 0.00009140●●●●●●
108. 57599422 c.11552G>A p.R3851Q missense 0.00009119●●●●●●
109. 57605310 c.13132G>A p.V4378I missense 0.00009115●●●●●●
110. 57601910 c.11949G>T p.E3983D missense 0.00009114●●●●●●
111. 57600444 c.11779C>T p.R3927C missense 0.00009098●●●●●●
112. 57577225 c.5726A>G p.N1909S missense 0.00009096●●●●●●
113. 57581188 c.6980C>G p.T2327S missense 0.00009089●●●●●●
114. 57532238 c.68-4C>T splice site 0.00009085●●●●●●
115. 57574539 c.5476A>G p.S1826G missense 0.00009079●●●●●●
116. 57554720 c.2024G>A p.R675Q missense 0.00009077●●●●●●
117. 57573735 c.5137C>T p.R1713C missense 0.00009076●●●●●●
118. 57599041 c.11335+9C>T splice site 0.00008533●●●●●●
119. 57562918 c.2996-5G>A splice site 0.00008475●●●●●●
120. 57604564 c.12818C>T p.A4273V missense 0.00008333●●●●●●
121. 57560727 c.2812C>T p.P938S missense 0.00008280●●●●●●
122. 57586721 c.7523G>A p.G2508D missense 0.00008279●●●●●●
123. 57581169 c.6961G>A p.E2321K missense 0.00008250●●●●●●
124. 57538822 c.516A>G p.I172M missense 0.00008243●●●●●●
125. 57578171 c.6122C>T p.T2041M missense 0.00008241●●●●●●
126. 57554837 c.2141A>T p.Y714F missense 0.00008240●●●●●●
127. 57579581 c.6731G>A p.R2244Q missense 0.00008239●●●●●●
128. 57591365 c.9200G>A p.R3067Q missense 0.00008237●●●●●●
129. 57598303 c.11062G>A p.E3688K missense 0.00007862●●●●●●
130. 57550662 c.1520G>A p.R507H missense 0.00007799●●●●●●
131. 57560710 c.2798-3C>T splice site 0.00007560●●●●●●
132. 57604624 c.12878G>A p.R4293Q missense 0.00007559●●●●●●
133. 57588353 c.8069-7C>A splice site 0.00007515●●●●●●
134. 57601935 c.11974C>G p.R3992G missense 0.00007504●●●●●●
135. 57572394 c.4606+8G>T splice site 0.00007485●●●●●●
136. 57596960 c.10712-4C>T splice site 0.00007462●●●●●●
137. 57532372 c.190+8C>A splice site 0.00007435●●●●●●
138. 57598418 c.11080G>A p.V3694M missense 0.00007431●●●●●●
139. 57567029 c.3242G>A p.R1081H missense 0.00007429●●●●●●
140. 57572742 c.4676G>A p.R1559Q missense 0.00007421●●●●●●
141. 57538751 c.449-4G>C splice site 0.00007418●●●●●●
142. 57597303 c.10950C>T splice site 0.00007401●●●●●●
143. 57548467 c.1210A>G p.I404V missense 0.00007025●●●●●●
144. 57588277 c.8059G>A p.D2687N missense 0.00006927●●●●●●
145. 57597054 c.10802C>T p.A3601V missense 0.00006850●●●●●●
146. 57573135 c.4762G>A p.A1588T missense 0.00006792●●●●●●
147. 57594310 c.10100C>T p.P3367L missense 0.00006681●●●●●●
148. 57587423 c.7759G>A p.G2587R missense 0.00006602●●●●●●
149. 57595605 c.10511C>T p.S3504L missense 0.00006597●●●●●●
150. 57594886 c.10295G>A p.R3432H missense 0.00006592●●●●●●
151. 57532340 c.166G>A p.G56R missense 0.00006591●●●●●●
152. 57593115 c.9797C>T p.T3266M missense 0.00006590●●●●●●
153. 57588203 c.7985G>A p.R2662Q missense 0.00006375●●●●●●
154. 57552181 c.1562-4C>G splice site 0.00006137●●●●●●
155. 57588422 c.8131A>G p.M2711V missense 0.00005994●●●●●●
156. 57589969 c.8801C>T p.S2934L missense 0.00005925●●●●●●
157. 57569407 c.3712G>A p.D1238N missense 0.00005908●●●●●●
158. 57599250 c.11452G>A p.G3818S missense 0.00005861●●●●●●
159. 57589944 c.8776G>A p.G2926S missense 0.00005839●●●●●●
160. 57587358 c.7694G>A p.R2565H missense 0.00005819●●●●●●
161. 57578994 c.6463+6G>A splice site 0.00005817●●●●●●
162. 57577167 c.5668G>A p.G1890S missense 0.00005804●●●●●●
163. 57578239 c.6186+4C>T splice site 0.00005792●●●●●●
164. 57569344 c.3649G>A p.D1217N missense 0.00005783●●●●●●
165. 57589131 c.8386G>A p.G2796S missense 0.00005769●●●●●●
166. 57577638 c.5875G>A p.V1959M missense 0.00005768●●●●●●
167. 57605713 c.13262T>C p.I4421T missense 0.00005768●●●●●●
168. 57605700 c.13259-10T>C splice site 0.00005768●●●●●●
169. 57556245 c.2348G>A p.R783H missense 0.00005767●●●●●●
170. 57532319 c.145G>A p.G49S missense 0.00005766●●●●●●
171. 57592405 c.9628G>C p.E3210Q missense 0.00005595●●●●●●
172. 57598188 c.10952-5A>T splice site 0.00005449●●●●●●
173. 57604128 c.12619G>A p.G4207S missense 0.00005346●●●●●●
174. 57571250 c.4237A>G p.I1413V missense 0.00005199●●●●●●
175. 57560002 c.2797+10G>A splice site 0.00005142●●●●●●
176. 57602486 c.12039-8C>T splice site 0.00005101●●●●●●
177. 57522755 c.8C>T p.T3I missense 0.00005060●●●●●●
178. 57599230 c.11432C>G p.S3811W missense 0.00005055●●●●●●
179. 57571287 c.4274C>T p.T1425I missense 0.00005047●●●●●●
180. 57581220 c.7012G>A p.V2338I missense 0.00005047●●●●●●
181. 57579434 c.6584G>A p.R2195H missense 0.00005017●●●●●●
182. 57522761 c.14C>T p.P5L missense 0.00005014●●●●●●
183. 57594318 c.10108C>T p.P3370S missense 0.00005013●●●●●●
184. 57522778 c.31C>A p.P11T missense 0.00005001●●●●●●
185. 57522797 c.50T>C p.V17A missense 0.00004996●●●●●●
186. 57587720 c.7843G>A p.G2615R missense 0.00004989●●●●●●
187. 57522791 c.44C>T p.A15V missense 0.00004984●●●●●●
188. 57563015 c.3088G>C p.E1030Q missense 0.00004969●●●●●●
189. 57566996 c.3209G>A p.R1070Q missense 0.00004968●●●●●●
190. 57548393 c.1136G>A p.R379H missense 0.00004962●●●●●●
191. 57589047 c.8309-7C>A splice site 0.00004956●●●●●●
192. 57598443 c.11105G>A p.R3702H missense 0.00004954●●●●●●
193. 57600390 c.11725G>A p.V3909I missense 0.00004954●●●●●●
194. 57605027 c.12985C>T p.R4329C missense 0.00004953●●●●●●
195. 57569865 c.3967C>T p.R1323C missense 0.00004951●●●●●●
196. 57539106 c.674C>T p.T225M missense 0.00004950●●●●●●
197. 57573717 c.5119C>G p.L1707V missense 0.00004950●●●●●●
198. 57539046 c.614A>G p.N205S missense 0.00004948●●●●●●
199. 57605810 c.13349+10A>G splice site 0.00004948●●●●●●
200. 57552325 c.1702G>T p.A568S missense 0.00004947●●●●●●
201. 57552331 c.1708A>C p.T570P missense 0.00004946●●●●●●
202. 57561313 c.2995+6A>T splice site 0.00004946●●●●●●
203. 57556635 c.2405-6C>G splice site 0.00004660●●●●●●
204. 57597259 c.10906G>A p.A3636T missense 0.00004590●●●●●●
205. 57603940 c.12568C>T p.P4190S missense 0.00004419●●●●●●
206. 57593663 c.9869C>T p.P3290L missense 0.00004343●●●●●●
207. 57602484 c.12039-10C>G splice site 0.00004266●●●●●●
208. 57572668 c.4607-5C>G splice site 0.00004231●●●●●●
209. 57605558 c.13219C>T p.R4407W missense 0.00004231●●●●●●
210. 57592243 c.9471-5G>A splice site 0.00004227●●●●●●
211. 57595282 c.10348G>A p.E3450K missense 0.00004225●●●●●●
212. 57592090 c.9434G>A p.R3145H missense 0.00004219●●●●●●
213. 57594606 c.10225+8G>A splice site 0.00004210●●●●●●
214. 57594605 c.10225+7C>T splice site 0.00004208●●●●●●
215. 57590804 c.8932C>T p.R2978W missense 0.00004200●●●●●●
216. 57590032 c.8864A>G p.D2955G missense 0.00004184●●●●●●
217. 57599279 c.11470+11G>A splice site 0.00004157●●●●●●
218. 57600498 c.11833A>T p.I3945F missense 0.00004152●●●●●●
219. 57601919 c.11958G>T p.Q3986H missense 0.00004151●●●●●●
220. 57587745 c.7868G>A p.R2623H missense 0.00004151●●●●●●
221. 57595555 c.10469-8G>A splice site 0.00004143●●●●●●
222. 57586724 c.7526G>A p.R2509Q missense 0.00004142●●●●●●
223. 57573928 c.5236+4C>T splice site 0.00004139●●●●●●
224. 57573921 c.5233G>A p.V1745M missense 0.00004138●●●●●●
225. 57587004 c.7601A>G p.N2534S missense 0.00004133●●●●●●
226. 57560824 c.2909C>T p.S970L missense 0.00004131●●●●●●
227. 57587042 c.7639G>A p.V2547I missense 0.00004131●●●●●●
228. 57538882 c.576C>T splice site 0.00004130●●●●●●
229. 57591455 c.9282+8G>A splice site 0.00004130●●●●●●
230. 57567736 c.3520G>A p.D1174N missense 0.00004128●●●●●●
231. 57605051 c.13009T>A p.S4337T missense 0.00004127●●●●●●
232. 57559651 c.2594G>A p.R865H missense 0.00004123●●●●●●
233. 57539211 c.779G>A p.R260H missense 0.00004123●●●●●●
234. 57538750 c.449-5G>A splice site 0.00004121●●●●●●
235. 57578177 c.6128G>A p.R2043H missense 0.00004121●●●●●●
236. 57548095 c.946A>T p.T316S missense 0.00004121●●●●●●
237. 57577597 c.5834C>T p.T1945M missense 0.00004121●●●●●●
238. 57593130 c.9812C>T p.T3271M missense 0.00004119●●●●●●
239. 57594865 c.10274G>A p.R3425H missense 0.00004119●●●●●●
240. 57578883 c.6358A>G p.I2120V missense 0.00004119●●●●●●
241. 57578911 c.6386C>A p.T2129K missense 0.00004119●●●●●●
242. 57602007 c.12038+8A>G splice site 0.00004064●●●●●●
243. 57556754 c.2518G>A p.V840I missense 0.00003933●●●●●●
244. 57556745 c.2509G>A p.A837T missense 0.00003832●●●●●●
245. 57592450 c.9673G>A p.V3225I missense 0.00003768●●●●●●
246. 57604243 c.12734C>T p.T4245I missense 0.00003725●●●●●●
247. 57588172 c.7954G>A p.V2652M missense 0.00003663●●●●●●
248. 57604231 c.12722G>A p.R4241H missense 0.00003661●●●●●●
249. 57548392 c.1135C>T p.R379C missense 0.00003656●●●●●●
250. 57604095 c.12586C>T p.R4196W missense 0.00003605●●●●●●
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1241. 57556220 c.2323G>A p.A775T missense 0.00000824●●●●●●
1242. 57556223 c.2326C>T p.P776S missense 0.00000824●●●●●●
1243. 57556227 c.2330C>A p.P777H missense 0.00000824●●●●●●
1244. 57556227 c.2330C>T p.P777L missense 0.00000824●●●●●●
1245. 57556244 c.2347C>T p.R783C missense 0.00000824●●●●●●
1246. 57556275 c.2378G>A p.R793Q missense 0.00000824●●●●●●
1247. 57559597 c.2540C>T p.S847F missense 0.00000824●●●●●●
1248. 57559599 c.2542T>C p.Y848H missense 0.00000824●●●●●●
1249. 57559602 c.2545G>A p.V849M missense 0.00000824●●●●●●
1250. 57559612 c.2555C>T p.P852L missense 0.00000824●●●●●●
1251. 57559648 c.2591G>A p.S864N missense 0.00000824●●●●●●
1252. 57561245 c.2933C>G p.P978R missense 0.00000824●●●●●●
1253. 57561259 c.2947A>G p.T983A missense 0.00000824●●●●●●
1254. 57561290 c.2978A>G p.N993S missense 0.00000824●●●●●●
1255. 57567566 c.3350G>A p.R1117Q missense 0.00000824●●●●●●
1256. 57567613 c.3397G>A p.D1133N missense 0.00000824●●●●●●
1257. 57567620 c.3404C>T p.S1135L missense 0.00000824●●●●●●
1258. 57567664 c.3448C>T p.H1150Y missense 0.00000824●●●●●●
1259. 57567665 c.3449A>G p.H1150R missense 0.00000824●●●●●●
1260. 57567680 c.3464A>C p.N1155T missense 0.00000824●●●●●●
1261. 57567698 c.3482C>A p.P1161H missense 0.00000824●●●●●●
1262. 57567698 c.3482C>T p.P1161L missense 0.00000824●●●●●●
1263. 57569736 c.3838C>T p.R1280W missense 0.00000824●●●●●●
1264. 57569737 c.3839G>A p.R1280Q missense 0.00000824●●●●●●
1265. 57569748 c.3850C>A p.L1284I missense 0.00000824●●●●●●
1266. 57569755 c.3857A>G p.K1286R missense 0.00000824●●●●●●
1267. 57569788 c.3890G>T p.R1297L missense 0.00000824●●●●●●
1268. 57569818 c.3920G>A p.S1307N missense 0.00000824●●●●●●
1269. 57569826 c.3928G>A p.A1310T missense 0.00000824●●●●●●
1270. 57570847 c.4015A>T p.I1339F missense 0.00000824●●●●●●
1271. 57572270 c.4490G>C p.R1497P missense 0.00000824●●●●●●
1272. 57574179 c.5303G>A p.R1768H missense 0.00000824●●●●●●
1273. 57574179 c.5303G>T p.R1768L missense 0.00000824●●●●●●
1274. 57577605 c.5842C>T p.R1948W missense 0.00000824●●●●●●
1275. 57577624 c.5861C>T p.T1954M missense 0.00000824●●●●●●
1276. 57577624 c.5861C>G p.T1954R missense 0.00000824●●●●●●
1277. 57577650 c.5887G>A p.G1963S missense 0.00000824●●●●●●
1278. 57577660 c.5897G>A p.R1966H missense 0.00000824●●●●●●
1279. 57577677 c.5914G>C p.V1972L missense 0.00000824●●●●●●
1280. 57578158 c.6109C>G p.R2037G missense 0.00000824●●●●●●
1281. 57578176 c.6127C>T p.R2043C missense 0.00000824●●●●●●
1282. 57578179 c.6130G>A p.V2044M missense 0.00000824●●●●●●
1283. 57578194 c.6145G>T p.V2049F missense 0.00000824●●●●●●
1284. 57578695 c.6260G>T p.R2087L missense 0.00000824●●●●●●
1285. 57578751 c.6316G>A p.D2106N missense 0.00000824●●●●●●
1286. 57578889 c.6364C>T p.R2122C missense 0.00000824●●●●●●
1287. 57578890 c.6365G>A p.R2122H missense 0.00000824●●●●●●
1288. 57578902 c.6377A>G p.D2126G missense 0.00000824●●●●●●
1289. 57578919 c.6394G>A p.V2132M missense 0.00000824●●●●●●
1290. 57579537 c.6687C>G p.D2229E missense 0.00000824●●●●●●
1291. 57579538 c.6688C>T p.P2230S missense 0.00000824●●●●●●
1292. 57579541 c.6691G>A p.E2231K missense 0.00000824●●●●●●
1293. 57579580 c.6730C>T p.R2244W missense 0.00000824●●●●●●
1294. 57579601 c.6751A>T p.T2251S missense 0.00000824●●●●●●
1295. 57588810 c.8234G>A p.R2745H missense 0.00000824●●●●●●
1296. 57588815 c.8239A>G p.I2747V missense 0.00000824●●●●●●
1297. 57589068 c.8323G>A p.G2775S missense 0.00000824●●●●●●
1298. 57589068 c.8323G>T p.G2775C missense 0.00000824●●●●●●
1299. 57589069 c.8324G>A p.G2775D missense 0.00000824●●●●●●
1300. 57589089 c.8344C>T p.P2782S missense 0.00000824●●●●●●
1301. 57589093 c.8348G>A p.G2783D missense 0.00000824●●●●●●
1302. 57589101 c.8356G>A p.V2786M missense 0.00000824●●●●●●
1303. 57589122 c.8377C>G p.L2793V missense 0.00000824●●●●●●
1304. 57589142 c.8397C>G p.D2799E missense 0.00000824●●●●●●
1305. 57590907 c.9035C>A p.A3012E missense 0.00000824●●●●●●
1306. 57590913 c.9041G>T p.R3014L missense 0.00000824●●●●●●
1307. 57590916 c.9044G>T p.G3015V missense 0.00000824●●●●●●
1308. 57590931 c.9059G>T p.S3020I missense 0.00000824●●●●●●
1309. 57590943 c.9071T>C p.V3024A missense 0.00000824●●●●●●
1310. 57591096 c.9091C>G p.L3031V missense 0.00000824●●●●●●
1311. 57591370 c.9205C>G p.Q3069E missense 0.00000824●●●●●●
1312. 57591391 c.9226G>T p.V3076L missense 0.00000824●●●●●●
1313. 57591402 c.9237G>C p.Q3079H missense 0.00000824●●●●●●
1314. 57591423 c.9258G>A p.M3086I missense 0.00000824●●●●●●
1315. 57591425 c.9260A>C p.H3087P missense 0.00000824●●●●●●
1316. 57591433 c.9268G>A p.G3090R missense 0.00000824●●●●●●
1317. 57593044 c.9726C>G p.D3242E missense 0.00000824●●●●●●
1318. 57593046 c.9728A>G p.Y3243C missense 0.00000824●●●●●●
1319. 57593085 c.9767G>A p.R3256Q missense 0.00000824●●●●●●
1320. 57593100 c.9782C>T p.T3261M missense 0.00000824●●●●●●
1321. 57593112 c.9794A>G p.K3265R missense 0.00000824●●●●●●
1322. 57594852 c.10261A>G p.T3421A missense 0.00000824●●●●●●
1323. 57594859 c.10268C>G p.T3423S missense 0.00000824●●●●●●
1324. 57594902 c.10311C>A p.D3437E missense 0.00000824●●●●●●
1325. 57594918 c.10327G>A p.E3443K missense 0.00000824●●●●●●
1326. 57603501 c.12289G>T p.V4097F missense 0.00000824●●●●●●
1327. 57603520 c.12308A>T p.Y4103F missense 0.00000824●●●●●●
1328. 57605778 c.13327T>C p.W4443R missense 0.00000824●●●●●●
1329. 57605791 c.13340G>A p.R4447Q missense 0.00000824●●●●●●
1330. 57605797 c.13346A>G p.Q4449R missense 0.00000824●●●●●●
1331. 57532348 c.174_175insGAGGCCCCTGAGATTTGTAAGTACCTTTTCTGGATT p.Asp58_Glu59insGluAlaProGluIleCysLysTyrLeuPheTrpI inframe 0.00000824●●●●●●
1332. 57605733 c.13282_13283insTGCTGT p.Leu4428_Leu4429insLeuLeu inframe 0.00000824●●●●●●
1333. 57553600 c.1799-8C>A splice site 0.00000824●●●●●●
1334. 57553601 c.1799-7C>G splice site 0.00000824●●●●●●
1335. 57561315 c.2995+8C>T splice site 0.00000824●●●●●●
1336. 57578102 c.6060-7C>G splice site 0.00000824●●●●●●
1337. 57578106 c.6060-3C>T splice site 0.00000824●●●●●●
1338. 57578859 c.6339-5C>G splice site 0.00000824●●●●●●
1339. 57590955 c.9076+7T>G splice site 0.00000824●●●●●●
1340. 57591083 c.9078C>T splice site 0.00000824●●●●●●
1341. 57591324 c.9163-4C>G 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.