DMD variants in ExAC

DMD gene summary
DMD variants in

The table below lists the DMD 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. 31496350 c.8810G>A p.R2937Q missense 0.90452238●●●●●●
2. 32503194 c.2645A>G p.D882G missense 0.72107096●●●●●●
3. 32380996 c.5234G>A p.R1745H missense 0.51416735●●●●●●
4. 31676096 c.8027+11C>T splice site 0.33977601●●●●●●
5. 31893307 c.7096A>C p.K2366Q missense 0.27805773●●●●●●
6. 32867947 c.94-10_94-9insT splice site 0.09626392●●●●●●
7. 31496398 c.8762A>G p.H2921R missense 0.02629205●●●●●●
8. 31986607 c.6463C>T p.R2155W missense 0.02604755●●●●●●
9. 31496426 c.8734A>G p.N2912D missense 0.02223947●●●●●●
10. 31496431 c.8729A>T p.E2910V missense 0.02190123●●●●●●
11. 32466625 c.3734C>T p.T1245I missense 0.01486823●●●●●●
12. 32481582 c.3406A>T p.T1136S missense 0.01464729●●●●●●
13. 32429940 c.4162T>G p.F1388V missense 0.00978399●●●●●●
14. 32503227 c.2623-11C>G splice site 0.00905903●●●●●●
15. 32509625 c.2391T>G p.N797K missense 0.00766860●●●●●●
16. 32383146 c.5016T>A p.N1672K missense 0.00755399●●●●●●
17. 32404572 c.4529A>G p.K1510R missense 0.00539864●●●●●●
18. 32662355 c.1225A>T p.T409S missense 0.00386977●●●●●●
19. 32613922 c.1554T>A p.D518E missense 0.00380641●●●●●●
20. 32235149 c.6322C>T p.R2108C missense 0.00373585●●●●●●
21. 32472771 c.3603+8A>G splice site 0.00235225●●●●●●
22. 32563301 c.2143A>T p.T715S missense 0.00208230●●●●●●
23. 32509638 c.2381-3T>C splice site 0.00180573●●●●●●
24. 32583923 c.1888A>G p.T630A missense 0.00154471●●●●●●
25. 32486806 c.2971G>C p.E991Q missense 0.00153960●●●●●●
26. 32591741 c.1718C>T p.A573V missense 0.00145602●●●●●●
27. 32563447 c.1997C>T p.S666L missense 0.00143202●●●●●●
28. 32381067 c.5163G>C p.K1721N missense 0.00119540●●●●●●
29. 32613963 c.1513G>C p.V505L missense 0.00117443●●●●●●
30. 32509447 c.2569C>T p.P857S missense 0.00109407●●●●●●
31. 32519861 c.2380+11G>A splice site 0.00109137●●●●●●
32. 32381048 c.5182C>T p.R1728C missense 0.00102679●●●●●●
33. 32456459 c.3970C>T p.R1324C missense 0.00080390●●●●●●
34. 32867946 c.94-9T>A splice site 0.00075793●●●●●●
35. 31854852 c.7183G>A p.A2395T missense 0.00074082●●●●●●
36. 31222203 c.9682T>C p.F3228L missense 0.00070530●●●●●●
37. 32591900 c.1666G>A p.D556N missense 0.00066784●●●●●●
38. 32364161 c.5485C>G p.Q1829E missense 0.00064223●●●●●●
39. 32614000 c.1483-7C>G splice site 0.00063891●●●●●●
40. 32663135 c.1095A>C p.Q365H missense 0.00061550●●●●●●
41. 32716024 c.923C>T p.T308I missense 0.00061014●●●●●●
42. 32563348 c.2096C>G p.A699G missense 0.00059623●●●●●●
43. 31792147 c.7472A>G p.Q2491R missense 0.00059359●●●●●●
44. 32305796 c.6140A>G p.Q2047R missense 0.00058640●●●●●●
45. 32429867 c.4233+2C>T essential splice site 0.00051820●●●●●●
46. 32662262 c.1318G>A p.E440K missense 0.00050928●●●●●●
47. 0 c.2950-12delA splice site 0.00042191●●●●●●
48. 31854884 c.7151C>A p.S2384Y missense 0.00042166●●●●●●
49. 32536244 c.2173G>T p.D725Y missense 0.00039853●●●●●●
50. 32536156 c.2261G>T p.G754V missense 0.00039498●●●●●●
51. 31986499 c.6571C>T p.R2191W missense 0.00038861●●●●●●
52. 32536126 c.2291A>G p.N764S missense 0.00037117●●●●●●
53. 31462737 c.8945G>A p.R2982Q missense 0.00036625●●●●●●
54. 31747837 c.7571G>A p.R2524H missense 0.00036463●●●●●●
55. 32591647 c.1812C>T p.A604A splice site 0.00035873●●●●●●
56. 32481569 c.3419A>G p.H1140R missense 0.00035863●●●●●●
57. 31986448 c.6614+8G>A splice site 0.00034333●●●●●●
58. 31462708 c.8974G>A p.V2992M missense 0.00033119●●●●●●
59. 32509630 c.2386G>A p.V796I missense 0.00032700●●●●●●
60. 32536144 c.2273A>C p.D758A missense 0.00032470●●●●●●
61. 31676100 c.8027+7A>T splice site 0.00032095●●●●●●
62. 32632565 c.1337A>G p.H446R missense 0.00031470●●●●●●
63. 32472949 c.3433G>C p.V1145L missense 0.00030984●●●●●●
64. 32361370 c.5620G>A p.E1874K missense 0.00030875●●●●●●
65. 31838158 c.7243C>T p.R2415C missense 0.00030828●●●●●●
66. 32482762 c.3217G>A p.E1073K missense 0.00030815●●●●●●
67. 32583877 c.1934A>G p.D645G missense 0.00030803●●●●●●
68. 31792316 c.7310-7A>G splice site 0.00029975●●●●●●
69. 32364170 c.5476G>C p.E1826Q missense 0.00028043●●●●●●
70. 32459424 c.3794G>C p.W1265S missense 0.00027627●●●●●●
71. 31196048 c.10262+1G>A essential splice site 0.00027095●●●●●●
72. 32519862 c.2380+10C>T splice site 0.00026975●●●●●●
73. 32486757 c.3020C>T p.S1007L missense 0.00026818●●●●●●
74. 32328332 c.5984A>T p.Y1995F missense 0.00026798●●●●●●
75. 32235151 c.6320G>A p.R2107Q missense 0.00026400●●●●●●
76. 32383152 c.5010G>T p.W1670C missense 0.00026305●●●●●●
77. 32235190 c.6291-10T>C splice site 0.00025949●●●●●●
78. 31525480 c.8308G>A p.D2770N missense 0.00025856●●●●●●
79. 32716015 c.932A>G p.D311G missense 0.00025570●●●●●●
80. 32486611 c.3162+4A>G splice site 0.00024673●●●●●●
81. 32591728 c.1731A>T p.E577D missense 0.00024034●●●●●●
82. 32662328 c.1252A>T p.T418S missense 0.00023984●●●●●●
83. 32481662 c.3326A>T p.N1109I missense 0.00023748●●●●●●
84. 32364136 c.5510G>C p.R1837T missense 0.00022214●●●●●●
85. 31341774 c.9165G>A p.T3055T splice site 0.00022134●●●●●●
86. 32459402 c.3816G>C p.L1272F missense 0.00021775●●●●●●
87. 32430009 c.4093C>T p.L1365F missense 0.00021217●●●●●●
88. 32407763 c.4373T>A p.F1458Y missense 0.00020608●●●●●●
89. 32472910 c.3472A>G p.K1158E missense 0.00020594●●●●●●
90. 32717364 c.696C>G p.I232M missense 0.00020582●●●●●●
91. 32663245 c.985T>A p.S329T missense 0.00020559●●●●●●
92. 31525533 c.8255A>G p.Y2752C missense 0.00020431●●●●●●
93. 32490426 c.2804T>G p.I935S missense 0.00019828●●●●●●
94. 32429987 c.4115C>T p.A1372V missense 0.00019783●●●●●●
95. 31676146 c.7988C>G p.T2663R missense 0.00018273●●●●●●
96. 32662396 c.1184G>A p.R395Q missense 0.00018268●●●●●●
97. 32360312 c.5827A>G p.M1943V missense 0.00017942●●●●●●
98. 32584001 c.1813-3C>A splice site 0.00017325●●●●●●
99. 32382834 c.5026-7A>G splice site 0.00017233●●●●●●
100. 32490406 c.2824A>G p.M942V missense 0.00017206●●●●●●
101. 32490403 c.2827C>T p.R943C missense 0.00017200●●●●●●
102. 32361267 c.5723A>T p.D1908V missense 0.00017157●●●●●●
103. 32381027 c.5203C>T p.R1735C missense 0.00016537●●●●●●
104. 31165612 c.10577G>A p.R3526H missense 0.00016085●●●●●●
105. 31496393 c.8767G>T p.A2923S missense 0.00015995●●●●●●
106. 32361289 c.5701G>A p.A1901T missense 0.00015992●●●●●●
107. 31525575 c.8218-5T>C splice site 0.00015366●●●●●●
108. 32486700 c.3077A>G p.E1026G missense 0.00015204●●●●●●
109. 32398617 c.4845+10A>G splice site 0.00014887●●●●●●
110. 32398728 c.4744G>A p.V1582I missense 0.00014859●●●●●●
111. 31241200 c.9325G>T p.A3109S missense 0.00014819●●●●●●
112. 31893318 c.7085C>A p.P2362Q missense 0.00014103●●●●●●
113. 32486610 c.3162+5T>C splice site 0.00013968●●●●●●
114. 31986449 c.6614+7C>T splice site 0.00013732●●●●●●
115. 32490388 c.2842A>G p.M948V missense 0.00013715●●●●●●
116. 32663202 c.1028G>A p.R343H missense 0.00013684●●●●●●
117. 32328383 c.5933G>A p.R1978H missense 0.00013438●●●●●●
118. 31224789 c.9564-5A>G splice site 0.00013237●●●●●●
119. 32383286 c.4876G>A p.V1626M missense 0.00012676●●●●●●
120. 31950227 c.6732G>C p.Q2244H missense 0.00012581●●●●●●
121. 32717239 c.821A>G p.Y274C missense 0.00012580●●●●●●
122. 32490346 c.2884C>G p.L962V missense 0.00012555●●●●●●
123. 32509404 c.2612A>C p.K871T missense 0.00012535●●●●●●
124. 32305793 c.6143G>A p.S2048N missense 0.00012500●●●●●●
125. 32430011 c.4091T>C p.L1364S missense 0.00011793●●●●●●
126. 32366578 c.5393A>T p.E1798V missense 0.00011784●●●●●●
127. 32466724 c.3635C>T p.A1212V missense 0.00011636●●●●●●
128. 32398795 c.4677A>T splice site 0.00011623●●●●●●
129. 31792222 c.7397T>C p.M2466T missense 0.00011433●●●●●●
130. 32716118 c.832-3C>T splice site 0.00011374●●●●●●
131. 31645869 c.8138A>G p.N2713S missense 0.00010965●●●●●●
132. 31697583 c.7781A>G p.Q2594R missense 0.00010820●●●●●●
133. 32481548 c.3432+8C>A splice site 0.00010656●●●●●●
134. 32591643 c.1812+4T>C splice site 0.00010460●●●●●●
135. 32456470 c.3959C>G p.P1320R missense 0.00010351●●●●●●
136. 32490402 c.2828G>A p.R943H missense 0.00010310●●●●●●
137. 32509441 c.2575A>T p.T859S missense 0.00010256●●●●●●
138. 31144796 c.11015-6_11015-4delTTA splice site 0.00010075●●●●●●
139. 31496308 c.8852G>A p.R2951H missense 0.00009961●●●●●●
140. 32591878 c.1688G>A p.R563H missense 0.00009531●●●●●●
141. 32398788 c.4684A>G p.R1562G missense 0.00009243●●●●●●
142. 32382805 c.5048C>G p.T1683S missense 0.00009160●●●●●●
143. 32482710 c.3269A>T p.Q1090L missense 0.00009156●●●●●●
144. 32591717 c.1742C>T p.A581V missense 0.00009152●●●●●●
145. 32482797 c.3182A>G p.K1061R missense 0.00009137●●●●●●
146. 32841513 c.265-9_265-6delCTTT splice site 0.00009137●●●●●●
147. 31792192 c.7427A>G p.N2476S missense 0.00009134●●●●●●
148. 31854905 c.7130C>T p.P2377L missense 0.00009118●●●●●●
149. 31645860 c.8147A>G p.Q2716R missense 0.00008485●●●●●●
150. 31366745 c.9091G>A p.V3031I missense 0.00008471●●●●●●
151. 31222208 c.9677C>T p.T3226I missense 0.00008422●●●●●●
152. 32486730 c.3047G>A p.R1016Q missense 0.00008344●●●●●●
153. 31697544 c.7820A>T p.K2607M missense 0.00008296●●●●●●
154. 32481609 c.3379C>G p.L1127V missense 0.00008273●●●●●●
155. 32381026 c.5204G>A p.R1735H missense 0.00008265●●●●●●
156. 31497186 c.8582T>C p.V2861A missense 0.00008242●●●●●●
157. 31227768 c.9410A>G p.N3137S missense 0.00008204●●●●●●
158. 31515053 c.8399T>C p.L2800S missense 0.00008151●●●●●●
159. 32328258 c.6058G>C p.A2020P missense 0.00008056●●●●●●
160. 32591746 c.1713T>A p.F571L missense 0.00008030●●●●●●
161. 32472937 c.3445A>G p.K1149E missense 0.00008023●●●●●●
162. 32834578 c.530+7A>T splice site 0.00008012●●●●●●
163. 32482806 c.3173A>G p.Q1058R missense 0.00008002●●●●●●
164. 31838157 c.7244G>A p.R2415H missense 0.00007993●●●●●●
165. 32663226 c.1004T>C p.M335T missense 0.00007987●●●●●●
166. 32716063 c.884G>A p.R295Q missense 0.00007985●●●●●●
167. 32663099 c.1131C>G p.D377E missense 0.00007983●●●●●●
168. 31947729 c.6896A>C p.N2299T missense 0.00007979●●●●●●
169. 32591969 c.1603-6C>T splice site 0.00007819●●●●●●
170. 31496275 c.8885C>T p.P2962L missense 0.00007788●●●●●●
171. 32235084 c.6387G>T p.K2129N missense 0.00007717●●●●●●
172. 31893450 c.6953C>T p.A2318V missense 0.00007292●●●●●●
173. 32867940 c.94-3C>T splice site 0.00007263●●●●●●
174. 32503075 c.2764T>G p.F922V missense 0.00007241●●●●●●
175. 32563278 c.2166A>G p.K722K splice site 0.00007046●●●●●●
176. 31196087 c.10224T>A splice site 0.00006984●●●●●●
177. 32383285 c.4877T>A p.V1626E missense 0.00006909●●●●●●
178. 32459326 c.3892G>A p.G1298R missense 0.00006898●●●●●●
179. 32456399 c.4030C>T p.L1344F missense 0.00006895●●●●●●
180. 32717327 c.733A>G p.I245V missense 0.00006854●●●●●●
181. 32841474 c.295A>G p.I99V missense 0.00006841●●●●●●
182. 31224691 c.9649+8G>A splice site 0.00006828●●●●●●
183. 31645924 c.8083C>T p.P2695S missense 0.00006577●●●●●●
184. 32591967 c.1603-4C>A splice site 0.00006491●●●●●●
185. 32481705 c.3283G>C p.V1095L missense 0.00006432●●●●●●
186. 32486625 c.3152G>A p.R1051Q missense 0.00006335●●●●●●
187. 32328383 c.5933G>T p.R1978L missense 0.00006108●●●●●●
188. 32613894 c.1582G>A p.A528T missense 0.00006080●●●●●●
189. 32591859 c.1704+3G>A splice site 0.00005987●●●●●●
190. 32509558 c.2458A>C p.S820R missense 0.00005982●●●●●●
191. 31497112 c.8656C>G p.Q2886E missense 0.00005861●●●●●●
192. 31165528 c.10661G>A p.R3554Q missense 0.00005830●●●●●●
193. 32536168 c.2249T>C p.F750S missense 0.00005828●●●●●●
194. 32381014 c.5216C>A p.A1739E missense 0.00005799●●●●●●
195. 32456493 c.3936G>C p.L1312F missense 0.00005796●●●●●●
196. 32456488 c.3941G>A p.R1314Q missense 0.00005779●●●●●●
197. 32328264 c.6052C>A p.L2018I missense 0.00005754●●●●●●
198. 31697617 c.7747A>G p.T2583A missense 0.00005753●●●●●●
199. 31496483 c.8677C>T p.P2893S missense 0.00005733●●●●●●
200. 32563364 c.2080A>T p.I694F missense 0.00005726●●●●●●
201. 32398751 c.4721G>A p.R1574H missense 0.00005725●●●●●●
202. 31241249 c.9287-11C>T splice site 0.00005717●●●●●●
203. 31792190 c.7429C>T p.R2477W missense 0.00005709●●●●●●
204. 32509477 c.2539A>G p.T847A missense 0.00005701●●●●●●
205. 32509409 c.2607G>C p.Q869H missense 0.00005698●●●●●●
206. 31366742 c.9094G>A p.E3032K missense 0.00005612●●●●●●
207. 31893493 c.6913-3C>A splice site 0.00005473●●●●●●
208. 32536255 c.2169-7_2169-4delGTCT splice site 0.00005326●●●●●●
209. 32716024 c.923C>A p.T308N missense 0.00005193●●●●●●
210. 32486642 c.3135G>T p.E1045D missense 0.00004997●●●●●●
211. 32716067 c.880C>T p.P294S missense 0.00004967●●●●●●
212. 31645795 c.8212T>C p.W2738R missense 0.00004951●●●●●●
213. 32430033 c.4072-3T>C splice site 0.00004857●●●●●●
214. 32305785 c.6151C>T p.R2051W missense 0.00004845●●●●●●
215. 31279093 c.9265A>T p.T3089S missense 0.00004837●●●●●●
216. 31152236 c.10997_10999delCCT p.Ser3666del inframe 0.00004801●●●●●●
217. 31227783 c.9395C>A p.A3132D missense 0.00004797●●●●●●
218. 31165546 c.10643C>T p.T3548I missense 0.00004785●●●●●●
219. 32430020 c.4082G>T p.R1361M missense 0.00004772●●●●●●
220. 32591879 c.1687C>T p.R563C missense 0.00004765●●●●●●
221. 31164483 c.10846A>G p.T3616A missense 0.00004665●●●●●●
222. 32536166 c.2251C>T p.R751W missense 0.00004661●●●●●●
223. 31525476 c.8312A>C p.D2771A missense 0.00004660●●●●●●
224. 32383300 c.4862T>C p.I1621T missense 0.00004647●●●●●●
225. 32591752 c.1707C>T p.C569C splice site 0.00004595●●●●●●
226. 32456443 c.3986C>T p.T1329I missense 0.00004591●●●●●●
227. 32459413 c.3805C>T p.H1269Y missense 0.00004590●●●●●●
228. 32834764 c.358-7C>T splice site 0.00004590●●●●●●
229. 32663263 c.967G>A p.E323K missense 0.00004586●●●●●●
230. 32472886 c.3496C>G p.L1166V missense 0.00004573●●●●●●
231. 31525440 c.8348A>G p.N2783S missense 0.00004572●●●●●●
232. 32867886 c.145C>T p.R49C missense 0.00004570●●●●●●
233. 32398710 c.4762G>T p.A1588S missense 0.00004570●●●●●●
234. 32717332 c.728T>C p.V243A missense 0.00004570●●●●●●
235. 32383222 c.4940C>T p.T1647M missense 0.00004569●●●●●●
236. 31838166 c.7235C>T p.A2412V missense 0.00004569●●●●●●
237. 32361318 c.5672A>T p.K1891I missense 0.00004568●●●●●●
238. 32407680 c.4456C>T p.P1486S missense 0.00004567●●●●●●
239. 32583892 c.1919C>T p.T640M missense 0.00004565●●●●●●
240. 31227699 c.9479G>A p.R3160H missense 0.00004565●●●●●●
241. 32583887 c.1924G>A p.A642T missense 0.00004564●●●●●●
242. 31227674 c.9504G>C p.L3168F missense 0.00004560●●●●●●
243. 32834681 c.434G>A p.R145Q missense 0.00004560●●●●●●
244. 32663164 c.1066C>T p.L356F missense 0.00004559●●●●●●
245. 31747853 c.7555G>A p.D2519N missense 0.00004558●●●●●●
246. 31747750 c.7658G>A p.R2553Q missense 0.00004558●●●●●●
247. 32509437 c.2579C>T p.P860L missense 0.00004558●●●●●●
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986. 32398733 c.4739T>C p.M1580T missense 0.00001143●●●●●●
987. 32482804 c.3175A>G p.T1059A missense 0.00001143●●●●●●
988. 32583914 c.1897A>T p.N633Y missense 0.00001143●●●●●●
989. 32662323 c.1257A>C p.E419D missense 0.00001143●●●●●●
990. 32717255 c.805C>G p.H269D missense 0.00001143●●●●●●
991. 32717258 c.802T>G p.L268V missense 0.00001143●●●●●●
992. 32717275 c.785A>G p.K262R missense 0.00001143●●●●●●
993. 32717366 c.694A>C p.I232L missense 0.00001143●●●●●●
994. 32827656 c.603C>A p.N201K missense 0.00001143●●●●●●
995. 32382785 c.5068_5070delCAC p.His1690del inframe 0.00001143●●●●●●
996. 32407614 c.4518+4T>C splice site 0.00001143●●●●●●
997. 31697642 c.7722G>C p.Q2574H missense 0.00001142●●●●●●
998. 32407671 c.4465G>A p.E1489K missense 0.00001142●●●●●●
999. 32834589 c.526C>A p.H176N missense 0.00001142●●●●●●
1000. 31196845 c.10164G>C p.K3388N missense 0.00001142●●●●●●
1001. 31697652 c.7712G>A p.R2571Q missense 0.00001142●●●●●●
1002. 32305652 c.6284G>T p.R2095L missense 0.00001142●●●●●●
1003. 32361283 c.5707C>G p.L1903V missense 0.00001142●●●●●●
1004. 32407656 c.4480G>A p.E1494K missense 0.00001142●●●●●●
1005. 32407707 c.4429A>T p.I1477F missense 0.00001142●●●●●●
1006. 32662337 c.1243G>A p.D415N missense 0.00001142●●●●●●
1007. 31165386 c.10797+6_10797+8delGAG splice site 0.00001142●●●●●●
1008. 32663070 c.1149+11A>G splice site 0.00001142●●●●●●
1009. 31462607 c.9075G>C p.K3025N missense 0.00001142●●●●●●
1010. 31462608 c.9074A>G p.K3025R missense 0.00001142●●●●●●
1011. 31462609 c.9073A>C p.K3025Q missense 0.00001142●●●●●●
1012. 31496393 c.8767G>A p.A2923T missense 0.00001142●●●●●●
1013. 31525410 c.8378C>G p.S2793C missense 0.00001142●●●●●●
1014. 31525420 c.8368C>T p.R2790W missense 0.00001142●●●●●●
1015. 31676151 c.7983G>A p.M2661I missense 0.00001142●●●●●●
1016. 31676153 c.7981A>G p.M2661V missense 0.00001142●●●●●●
1017. 31676153 c.7981A>T p.M2661L missense 0.00001142●●●●●●
1018. 31676156 c.7978C>T p.H2660Y missense 0.00001142●●●●●●
1019. 31676242 c.7892G>A p.R2631H missense 0.00001142●●●●●●
1020. 31676243 c.7891C>T p.R2631C missense 0.00001142●●●●●●
1021. 31676246 c.7888C>G p.L2630V missense 0.00001142●●●●●●
1022. 31792133 c.7486C>A p.Q2496K missense 0.00001142●●●●●●
1023. 31792164 c.7455G>T p.W2485C missense 0.00001142●●●●●●
1024. 31792169 c.7450G>C p.D2484H missense 0.00001142●●●●●●
1025. 32305647 c.6289G>A p.G2097R missense 0.00001142●●●●●●
1026. 32361285 c.5705G>T p.S1902I missense 0.00001142●●●●●●
1027. 32361285 c.5705G>A p.S1902N missense 0.00001142●●●●●●
1028. 32361292 c.5698T>G p.L1900V missense 0.00001142●●●●●●
1029. 32361306 c.5684A>C p.D1895A missense 0.00001142●●●●●●
1030. 32382736 c.5117A>G p.E1706G missense 0.00001142●●●●●●
1031. 32382743 c.5110G>A p.E1704K missense 0.00001142●●●●●●
1032. 32382756 c.5097C>A p.D1699E missense 0.00001142●●●●●●
1033. 32383209 c.4953T>G p.D1651E missense 0.00001142●●●●●●
1034. 32383228 c.4934A>T p.K1645M missense 0.00001142●●●●●●
1035. 32398659 c.4813A>T p.S1605C missense 0.00001142●●●●●●
1036. 32398661 c.4811C>T p.P1604L missense 0.00001142●●●●●●
1037. 32398698 c.4774A>G p.M1592V missense 0.00001142●●●●●●
1038. 32398707 c.4765G>A p.A1589T missense 0.00001142●●●●●●
1039. 32398709 c.4763C>A p.A1588E missense 0.00001142●●●●●●
1040. 32404469 c.4632A>T p.R1544S missense 0.00001142●●●●●●
1041. 32404473 c.4628A>G p.E1543G missense 0.00001142●●●●●●
1042. 32404481 c.4620A>T p.E1540D missense 0.00001142●●●●●●
1043. 32407653 c.4483C>A p.Q1495K missense 0.00001142●●●●●●
1044. 32407687 c.4449G>A p.M1483I missense 0.00001142●●●●●●
1045. 32407715 c.4421G>C p.S1474T missense 0.00001142●●●●●●
1046. 32407727 c.4409G>T p.R1470L missense 0.00001142●●●●●●
1047. 32482733 c.3246A>T p.E1082D missense 0.00001142●●●●●●
1048. 32482737 c.3242C>T p.S1081L missense 0.00001142●●●●●●
1049. 32482787 c.3192G>C p.M1064I missense 0.00001142●●●●●●
1050. 32490363 c.2867A>G p.Q956R missense 0.00001142●●●●●●
1051. 32509497 c.2519A>C p.Q840P missense 0.00001142●●●●●●
1052. 32583835 c.1976A>G p.E659G missense 0.00001142●●●●●●
1053. 32583836 c.1975G>A p.E659K missense 0.00001142●●●●●●
1054. 32583912 c.1899T>A p.N633K missense 0.00001142●●●●●●
1055. 32662390 c.1190G>T p.G397V missense 0.00001142●●●●●●
1056. 32662397 c.1183C>T p.R395W missense 0.00001142●●●●●●
1057. 32717320 c.740C>G p.A247G missense 0.00001142●●●●●●
1058. 32827629 c.630G>C p.E210D missense 0.00001142●●●●●●
1059. 32827634 c.625A>G p.I209V missense 0.00001142●●●●●●
1060. 32827646 c.613T>C p.Y205H missense 0.00001142●●●●●●
1061. 32834744 c.371T>C p.M124T missense 0.00001142●●●●●●
1062. 32834748 c.367G>A p.V123I missense 0.00001142●●●●●●
1063. 31227610 c.9563+5G>A splice site 0.00001142●●●●●●
1064. 31227611 c.9563+4C>T splice site 0.00001142●●●●●●
1065. 32841511 c.265-7T>A splice site 0.00001142●●●●●●
1066. 31462650 c.9032C>T p.P3011L missense 0.00001141●●●●●●
1067. 31496419 c.8741A>T p.E2914V missense 0.00001141●●●●●●
1068. 32509483 c.2533A>C p.M845L missense 0.00001141●●●●●●
1069. 32509488 c.2528A>T p.E843V missense 0.00001141●●●●●●
1070. 32380975 c.5255T>C p.L1752S missense 0.00001141●●●●●●
1071. 32482747 c.3232C>T p.L1078F missense 0.00001141●●●●●●
1072. 32382690 c.5154+9T>C splice site 0.00001141●●●●●●
1073. 32663075 c.1149+6C>G splice site 0.00001141●●●●●●
1074. 31165394 c.10795C>A p.Q3599K missense 0.00001141●●●●●●
1075. 31165415 c.10774A>G p.R3592G missense 0.00001141●●●●●●
1076. 31165446 c.10743C>A p.D3581E missense 0.00001141●●●●●●
1077. 31227628 c.9550A>T p.N3184Y missense 0.00001141●●●●●●
1078. 31227694 c.9484G>C p.E3162Q missense 0.00001141●●●●●●
1079. 31462674 c.9008C>T p.T3003I missense 0.00001141●●●●●●
1080. 31462683 c.8999G>A p.R3000H missense 0.00001141●●●●●●
1081. 31462686 c.8996C>T p.A2999V missense 0.00001141●●●●●●
1082. 31496407 c.8753T>G p.L2918W missense 0.00001141●●●●●●
1083. 31496415 c.8745G>T p.W2915C missense 0.00001141●●●●●●
1084. 31676185 c.7949A>G p.D2650G missense 0.00001141●●●●●●
1085. 31676225 c.7909G>A p.V2637I missense 0.00001141●●●●●●
1086. 32305661 c.6275A>G p.Y2092C missense 0.00001141●●●●●●
1087. 32305663 c.6273G>A p.M2091I missense 0.00001141●●●●●●
1088. 32382704 c.5149C>T p.L1717F missense 0.00001141●●●●●●
1089. 32382714 c.5139A>C p.K1713N missense 0.00001141●●●●●●
1090. 32382730 c.5123A>G p.K1708R missense 0.00001141●●●●●●
1091. 32404429 c.4672A>C p.K1558Q missense 0.00001141●●●●●●
1092. 32490299 c.2931G>C p.Q977H missense 0.00001141●●●●●●
1093. 32490304 c.2926G>A p.E976K missense 0.00001141●●●●●●
1094. 32490306 c.2924T>C p.M975T missense 0.00001141●●●●●●
1095. 32490328 c.2902A>T p.S968C missense 0.00001141●●●●●●
1096. 32490330 c.2900T>G p.L967R missense 0.00001141●●●●●●
1097. 32503173 c.2666G>A p.R889Q missense 0.00001141●●●●●●
1098. 32503197 c.2642C>T p.S881L missense 0.00001141●●●●●●
1099. 32509486 c.2530C>A p.Q844K missense 0.00001141●●●●●●
1100. 32583859 c.1952G>C p.W651S missense 0.00001141●●●●●●
1101. 32662369 c.1211G>C p.S404T missense 0.00001141●●●●●●
1102. 32834601 c.514C>G p.L172V missense 0.00001141●●●●●●
1103. 32834604 c.511G>A p.A171T missense 0.00001141●●●●●●
1104. 32834736 c.379A>G p.I127V missense 0.00001141●●●●●●
1105. 32834739 c.376A>G p.N126D missense 0.00001141●●●●●●
1106. 32834741 c.374A>T p.K125I missense 0.00001141●●●●●●
1107. 32841492 c.277A>G p.N93D missense 0.00001141●●●●●●
1108. 31462658 c.9024_9038dupGCTCTCACCGTATAA p.Tyr3012_Asn3013insLysLeuSerProTyr inframe 0.00001141●●●●●●
1109. 32834734 c.381_383delCAT p.Ile127del inframe 0.00001141●●●●●●
1110. 32382691 c.5154+8A>G splice site 0.00001141●●●●●●
1111. 32490278 c.2949+3C>A splice site 0.00001141●●●●●●
1112. 31747872 c.7543-7C>T splice site 0.00001140●●●●●●
1113. 31241173 c.9352G>T p.A3118S missense 0.00001140●●●●●●
1114. 31947713 c.6912G>T p.K2304N missense 0.00001140●●●●●●
1115. 32380960 c.5270T>C p.I1757T missense 0.00001140●●●●●●
1116. 32509396 c.2620A>G p.K874E missense 0.00001140●●●●●●
1117. 32663172 c.1058C>T p.S353L missense 0.00001140●●●●●●
1118. 32834672 c.443C>T p.T148I missense 0.00001140●●●●●●
1119. 31227679 c.9499A>C p.N3167H missense 0.00001140●●●●●●
1120. 31227684 c.9494A>C p.H3165P missense 0.00001140●●●●●●
1121. 31241196 c.9329T>C p.M3110T missense 0.00001140●●●●●●
1122. 31854887 c.7148T>C p.L2383S missense 0.00001140●●●●●●
1123. 31854911 c.7124A>T p.K2375I missense 0.00001140●●●●●●
1124. 31854923 c.7112C>A p.A2371E missense 0.00001140●●●●●●
1125. 31947734 c.6891G>T p.Q2297H missense 0.00001140●●●●●●
1126. 31947738 c.6887A>G p.K2296R missense 0.00001140●●●●●●
1127. 31947742 c.6883C>T p.L2295F missense 0.00001140●●●●●●
1128. 31947750 c.6875A>G p.E2292G missense 0.00001140●●●●●●
1129. 31947762 c.6863A>G p.Q2288R missense 0.00001140●●●●●●
1130. 31947785 c.6840T>G p.S2280R missense 0.00001140●●●●●●
1131. 31947787 c.6838A>C p.S2280R missense 0.00001140●●●●●●
1132. 31947790 c.6835G>T p.V2279L missense 0.00001140●●●●●●
1133. 31947796 c.6829G>A p.V2277M missense 0.00001140●●●●●●
1134. 31947807 c.6818C>T p.T2273I missense 0.00001140●●●●●●
1135. 32380915 c.5315A>T p.K1772M missense 0.00001140●●●●●●
1136. 32380923 c.5307C>G p.H1769Q missense 0.00001140●●●●●●
1137. 32380925 c.5305C>T p.H1769Y missense 0.00001140●●●●●●
1138. 32380939 c.5291T>C p.F1764S missense 0.00001140●●●●●●
1139. 32380953 c.5277G>T p.E1759D missense 0.00001140●●●●●●
1140. 32509425 c.2591C>G p.T864R missense 0.00001140●●●●●●
1141. 32509444 c.2572A>T p.T858S missense 0.00001140●●●●●●
1142. 32509465 c.2551A>C p.N851H missense 0.00001140●●●●●●
1143. 32509479 c.2537C>G p.T846R missense 0.00001140●●●●●●
1144. 32663109 c.1121T>A p.V374E missense 0.00001140●●●●●●
1145. 32663118 c.1112A>G p.D371G missense 0.00001140●●●●●●
1146. 32663121 c.1109A>T p.N370I missense 0.00001140●●●●●●
1147. 32663133 c.1097G>A p.G366E missense 0.00001140●●●●●●
1148. 32663133 c.1097G>T p.G366V missense 0.00001140●●●●●●
1149. 32663145 c.1085T>C p.L362S missense 0.00001140●●●●●●
1150. 32663203 c.1027C>T p.R343C missense 0.00001140●●●●●●
1151. 32834636 c.479C>A p.T160N missense 0.00001140●●●●●●
1152. 32834636 c.479C>T p.T160I missense 0.00001140●●●●●●
1153. 32834646 c.469A>G p.I157V missense 0.00001140●●●●●●
1154. 32834686 c.429G>T p.W143C missense 0.00001140●●●●●●
1155. 32834689 c.426C>G p.S142R missense 0.00001140●●●●●●
1156. 32834720 c.395A>G p.Q132R missense 0.00001140●●●●●●
1157. 32834726 c.389G>A p.G130E missense 0.00001140●●●●●●
1158. 32841459 c.310C>A p.H104N missense 0.00001140●●●●●●
1159. 32841471 c.298G>A p.V100I missense 0.00001140●●●●●●
1160. 32841476 c.293A>G p.D98G missense 0.00001140●●●●●●
1161. 31947712 c.6912+1G>T essential splice site 0.00001140●●●●●●
1162. 31947706 c.6912+7C>T splice site 0.00001140●●●●●●
1163. 32841407 c.357+5G>A splice site 0.00001140●●●●●●
1164. 31747756 c.7652C>T p.T2551M missense 0.00001139●●●●●●
1165. 31747773 c.7635G>C p.E2545D missense 0.00001139●●●●●●
1166. 31747819 c.7589T>G p.L2530R missense 0.00001139●●●●●●
1167. 31747823 c.7585G>C p.E2529Q missense 0.00001139●●●●●●

* 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.