HCN4 variants in ExAC

HCN4 gene summary
HCN4 variants in

The table below lists the HCN4 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. 73660505 c.107G>A p.G36E missense 0.06130711●●●●●●
2. 73615097 c.3337A>G p.M1113V missense 0.02475090●●●●●●
3. 73615786 c.2648C>G p.P883R missense 0.00876676●●●●●●
4. 73624464 c.1371+8C>T splice site 0.00376045●●●●●●
5. 73616159 c.2275G>A p.V759I missense 0.00353324●●●●●●
6. 73615084 c.3350C>T p.P1117L missense 0.00315821●●●●●●
7. 73615603 c.2831C>T p.A944V missense 0.00218521●●●●●●
8. 73615777 c.2657C>T p.A886V missense 0.00111900●●●●●●
9. 73617673 c.1703G>C p.S568T missense 0.00108873●●●●●●
10. 73614857 c.3577G>C p.E1193Q missense 0.00098535●●●●●●
11. 73622045 c.1459G>A p.V487M missense 0.00082432●●●●●●
12. 73660194 c.418G>A p.G140S missense 0.00067114●●●●●●
13. 73614847 c.3587G>A p.R1196H missense 0.00065184●●●●●●
14. 73615634 c.2800C>T p.R934C missense 0.00060466●●●●●●
15. 73624600 c.1243G>A p.V415M missense 0.00051109●●●●●●
16. 73617293 c.1978+3G>T splice site 0.00050549●●●●●●
17. 73615969 c.2465C>T p.T822M missense 0.00043996●●●●●●
18. 73615589 c.2845C>T p.R949W missense 0.00041100●●●●●●
19. 73615304 c.3130C>T p.R1044W missense 0.00038491●●●●●●
20. 73660028 c.584C>T p.A195V missense 0.00038069●●●●●●
21. 73615424 c.3010C>T p.P1004S missense 0.00035108●●●●●●
22. 73660484 c.128C>T p.P43L missense 0.00034465●●●●●●
23. 73615604 c.2830G>A p.A944T missense 0.00033124●●●●●●
24. 73615630 c.2804C>T p.S935F missense 0.00032144●●●●●●
25. 73660203 c.409G>A p.A137T missense 0.00029291●●●●●●
26. 73615733 c.2701G>A p.A901T missense 0.00026302●●●●●●
27. 73635845 c.1090G>A p.D364N missense 0.00025544●●●●●●
28. 73615247 c.3187C>A p.P1063T missense 0.00025044●●●●●●
29. 73616425 c.2143+5G>T splice site 0.00022950●●●●●●
30. 73615456 c.2978C>T p.T993M missense 0.00021294●●●●●●
31. 73615363 c.3071G>T p.G1024V missense 0.00021100●●●●●●
32. 73616224 c.2210A>G p.Q737R missense 0.00020743●●●●●●
33. 73615303 c.3131G>A p.R1044Q missense 0.00020367●●●●●●
34. 73615301 c.3133G>A p.A1045T missense 0.00019826●●●●●●
35. 73624463 c.1371+9G>A splice site 0.00018969●●●●●●
36. 73614932 c.3502_3505delTTTG p.F1168Gfs*12 frameshift 0.00018747●●●●●●
37. 73660310 c.302C>T p.A101V missense 0.00018044●●●●●●
38. 73615704 c.2730C>A p.F910L missense 0.00016754●●●●●●
39. 73615028 c.3406G>A p.G1136S missense 0.00016038●●●●●●
40. 73660240 c.372C>G p.D124E missense 0.00015883●●●●●●
41. 73615229 c.3205C>T p.R1069W missense 0.00015613●●●●●●
42. 73615211 c.3223A>G p.T1075A missense 0.00014791●●●●●●
43. 73660302 c.310G>A p.G104S missense 0.00014775●●●●●●
44. 73615517 c.2917G>A p.G973R missense 0.00014622●●●●●●
45. 73660281 c.331G>A p.G111S missense 0.00014361●●●●●●
46. 73615255 c.3179C>A p.P1060H missense 0.00014229●●●●●●
47. 73660218 c.394A>C p.I132L missense 0.00013687●●●●●●
48. 73660403 c.209C>T p.S70L missense 0.00013554●●●●●●
49. 73660092 c.520C>T p.P174S missense 0.00012762●●●●●●
50. 73660418 c.194C>T p.T65M missense 0.00012519●●●●●●
51. 73615897 c.2537C>T p.P846L missense 0.00011909●●●●●●
52. 73615340 c.3094C>A p.P1032T missense 0.00011732●●●●●●
53. 73660439 c.173C>T p.P58L missense 0.00011701●●●●●●
54. 73617542 c.1738-6C>T splice site 0.00011535●●●●●●
55. 73615129 c.3305G>A p.R1102H missense 0.00011529●●●●●●
56. 73616014 c.2420G>A p.R807H missense 0.00010816●●●●●●
57. 73615630 c.2804C>A p.S935Y missense 0.00010715●●●●●●
58. 73615766 c.2668C>T p.P890S missense 0.00010599●●●●●●
59. 73614973 c.3461G>A p.R1154Q missense 0.00010325●●●●●●
60. 73660067 c.545C>T p.P182L missense 0.00010106●●●●●●
61. 73616510 c.2063A>G p.N688S missense 0.00009927●●●●●●
62. 73615237 c.3197C>A p.P1066H missense 0.00009901●●●●●●
63. 73660468 c.144C>G p.I48M missense 0.00009502●●●●●●
64. 73614829 c.3605A>G p.N1202S missense 0.00008739●●●●●●
65. 73615762 c.2672C>T p.S891L missense 0.00008668●●●●●●
66. 73660487 c.125A>C p.D42A missense 0.00008624●●●●●●
67. 73615912 c.2522C>T p.S841L missense 0.00008536●●●●●●
68. 73615678 c.2756C>G p.S919C missense 0.00008527●●●●●●
69. 73660488 c.124G>C p.D42H missense 0.00008418●●●●●●
70. 73616168 c.2266G>A p.A756T missense 0.00008329●●●●●●
71. 73617359 c.1915G>A p.V639M missense 0.00008238●●●●●●
72. 73660595 c.17C>T p.P6L missense 0.00008121●●●●●●
73. 73615232 c.3202C>T p.R1068C missense 0.00008114●●●●●●
74. 73615171 c.3263C>T p.A1088V missense 0.00008068●●●●●●
75. 73615601 c.2833C>T p.P945S missense 0.00007736●●●●●●
76. 73615387 c.3047C>T p.P1016L missense 0.00007651●●●●●●
77. 73615394 c.3040dupG p.Ala1014GlyfsTer180 frameshift 0.00007274●●●●●●
78. 73660512 c.100G>A p.E34K missense 0.00007221●●●●●●
79. 73615228 c.3206G>A p.R1069Q missense 0.00007219●●●●●●
80. 73660544 c.68C>T p.A23V missense 0.00006726●●●●●●
81. 73616252 c.2182G>A p.D728N missense 0.00006652●●●●●●
82. 73615225 c.3209G>A p.G1070D missense 0.00006623●●●●●●
83. 73615459 c.2975G>T p.S992I missense 0.00006508●●●●●●
84. 73614835 c.3599C>T p.P1200L missense 0.00006459●●●●●●
85. 73615588 c.2846G>A p.R949Q missense 0.00006406●●●●●●
86. 73615967 c.2467C>T p.P823S missense 0.00006151●●●●●●
87. 73616237 c.2197G>A p.V733I missense 0.00005813●●●●●●
88. 73615399 c.3035G>C p.G1012A missense 0.00005765●●●●●●
89. 73615370 c.3064C>T p.R1022X nonsense 0.00005751●●●●●●
90. 73615124 c.3310G>A p.A1104T missense 0.00005740●●●●●●
91. 73615531 c.2903C>T p.P968L missense 0.00005650●●●●●●
92. 73615637 c.2797G>A p.A933T missense 0.00005633●●●●●●
93. 73615037 c.3397G>C p.G1133R missense 0.00005596●●●●●●
94. 73615633 c.2801G>A p.R934H missense 0.00005591●●●●●●
95. 73615625 c.2809C>T p.Q937X nonsense 0.00005220●●●●●●
96. 73615093 c.3341C>T p.A1114V missense 0.00005218●●●●●●
97. 73660025 c.587C>G p.A196G missense 0.00005124●●●●●●
98. 73615216 c.3218C>T p.P1073L missense 0.00005065●●●●●●
99. 73615243 c.3191_3217delAGGTCCCCCAGCGCCGGGGCACACCCC p.Gln1064_Pro1072del inframe 0.00005065●●●●●●
100. 73615145 c.3289G>A p.G1097R missense 0.00005045●●●●●●
101. 73615145 c.3289G>T p.G1097W missense 0.00005045●●●●●●
102. 73615205 c.3229G>A p.G1077S missense 0.00004992●●●●●●
103. 73635940 c.995G>A p.R332Q missense 0.00004949●●●●●●
104. 73615375 c.3059C>T p.T1020I missense 0.00004926●●●●●●
105. 73615570 c.2864C>T p.P955L missense 0.00004914●●●●●●
106. 73615570 c.2864C>A p.P955Q missense 0.00004914●●●●●●
107. 73660278 c.334G>A p.G112S missense 0.00004873●●●●●●
108. 73615660 c.2774T>C p.L925P missense 0.00004870●●●●●●
109. 73614933 c.3501G>C p.L1167F missense 0.00004626●●●●●●
110. 73614974 c.3460C>T p.R1154W missense 0.00004622●●●●●●
111. 73660254 c.358G>A p.G120R missense 0.00004556●●●●●●
112. 73660271 c.341G>A p.G114E missense 0.00004508●●●●●●
113. 73660266 c.346G>A p.G116S missense 0.00004466●●●●●●
114. 73615061 c.3373G>A p.G1125S missense 0.00004393●●●●●●
115. 73615202 c.3232C>T p.R1078C missense 0.00004278●●●●●●
116. 73615055 c.3379G>A p.G1127R missense 0.00004165●●●●●●
117. 73615604 c.2830G>T p.A944S missense 0.00004140●●●●●●
118. 73635908 c.1027A>G p.M343V missense 0.00004120●●●●●●
119. 73614893 c.3541A>C p.T1181P missense 0.00003821●●●●●●
120. 73615595 c.2839G>A p.G947R missense 0.00003810●●●●●●
121. 73615390 c.3044C>G p.S1015C missense 0.00003669●●●●●●
122. 73616002 c.2432G>A p.G811E missense 0.00003592●●●●●●
123. 73615496 c.2938G>A p.G980R missense 0.00003473●●●●●●
124. 73615495 c.2939G>C p.G980A missense 0.00003444●●●●●●
125. 73615907 c.2527G>A p.A843T missense 0.00003414●●●●●●
126. 73616140 c.2294C>G p.A765G missense 0.00003361●●●●●●
127. 73615442 c.2992C>G p.P998A missense 0.00003356●●●●●●
128. 73659888 c.724C>T p.R242C missense 0.00003317●●●●●●
129. 73635946 c.989C>T p.P330L missense 0.00003299●●●●●●
130. 73617350 c.1924G>A p.V642M missense 0.00003296●●●●●●
131. 73635848 c.1087A>G p.I363V missense 0.00003296●●●●●●
132. 73617439 c.1835G>A p.R612H missense 0.00003295●●●●●●
133. 73617740 c.1636G>A p.D546N missense 0.00003295●●●●●●
134. 73615718 c.2716G>A p.G906R missense 0.00002921●●●●●●
135. 73660097 c.515C>G p.P172R missense 0.00002897●●●●●●
136. 73615400 c.3034G>A p.G1012R missense 0.00002848●●●●●●
137. 73615400 c.3034G>T p.G1012W missense 0.00002848●●●●●●
138. 73615037 c.3397G>A p.G1133R missense 0.00002798●●●●●●
139. 73616002 c.2432G>T p.G811V missense 0.00002694●●●●●●
140. 73615765 c.2669C>T p.P890L missense 0.00002694●●●●●●
141. 73614848 c.3586C>T p.R1196C missense 0.00002625●●●●●●
142. 73614844 c.3590C>G p.S1197C missense 0.00002594●●●●●●
143. 73614853 c.3581C>T p.P1194L missense 0.00002588●●●●●●
144. 73614835 c.3599C>A p.P1200Q missense 0.00002584●●●●●●
145. 73616108 c.2326C>A p.P776T missense 0.00002573●●●●●●
146. 73615927 c.2507C>T p.A836V missense 0.00002572●●●●●●
147. 73615031 c.3403C>T p.L1135F missense 0.00002509●●●●●●
148. 73615049 c.3385_3402delAGTGGGAGCAGCGGGGGC p.Ser1129_Gly1134del inframe 0.00002509●●●●●●
149. 73614904 c.3530G>A p.G1177E missense 0.00002503●●●●●●
150. 73616547 c.2026G>A p.D676N missense 0.00002490●●●●●●
151. 73636153 c.786-4G>A splice site 0.00002484●●●●●●
152. 73621933 c.1571G>A p.R524Q missense 0.00002475●●●●●●
153. 73622102 c.1402G>A p.A468T missense 0.00002475●●●●●●
154. 73635803 c.1132C>T p.R378C missense 0.00002474●●●●●●
155. 73635820 c.1115G>A p.R372Q missense 0.00002473●●●●●●
156. 73617719 c.1657G>A p.D553N missense 0.00002472●●●●●●
157. 73615406 c.3028G>A p.A1010T missense 0.00002366●●●●●●
158. 73614934 c.3500T>C p.L1167S missense 0.00002301●●●●●●
159. 73614944 c.3490C>G p.P1164A missense 0.00002249●●●●●●
160. 73614946 c.3488C>A p.P1163H missense 0.00002243●●●●●●
161. 73614947 c.3487C>A p.P1163T missense 0.00002239●●●●●●
162. 73615781 c.2653G>A p.G885R missense 0.00002164●●●●●●
163. 73615550 c.2884_2889delCCACCC p.Pro962_Pro963del inframe 0.00001992●●●●●●
164. 73660031 c.581C>T p.A194V missense 0.00001945●●●●●●
165. 73615538 c.2896delA p.Arg966AspfsTer19 frameshift 0.00001926●●●●●●
166. 73660015 c.597G>T p.Q199H missense 0.00001902●●●●●●
167. 73615532 c.2902C>T p.P968S missense 0.00001893●●●●●●
168. 73615021 c.3413C>T p.P1138L missense 0.00001892●●●●●●
169. 73615531 c.2903C>G p.P968R missense 0.00001883●●●●●●
170. 73615516 c.2918G>A p.G973E missense 0.00001815●●●●●●
171. 73616027 c.2407G>A p.A803T missense 0.00001803●●●●●●
172. 73616035 c.2399G>A p.R800H missense 0.00001802●●●●●●
173. 73616015 c.2419C>T p.R807C missense 0.00001799●●●●●●
174. 73616036 c.2398C>T p.R800C missense 0.00001797●●●●●●
175. 73616060 c.2374G>T p.A792S missense 0.00001780●●●●●●
176. 73615976 c.2458G>A p.G820R missense 0.00001773●●●●●●
177. 73615020 c.3414delT p.R1140Gfs*41 frameshift 0.00001743●●●●●●
178. 73615828 c.2606C>T p.A869V missense 0.00001717●●●●●●
179. 73615916 c.2518G>A p.A840T missense 0.00001711●●●●●●
180. 73616425 c.2143+5G>C splice site 0.00001700●●●●●●
181. 73616425 c.2143+5G>A splice site 0.00001700●●●●●●
182. 73616125 c.2309C>T p.T770M missense 0.00001692●●●●●●
183. 73615441 c.2993C>T p.P998L missense 0.00001687●●●●●●
184. 73615486 c.2948C>T p.S983F missense 0.00001675●●●●●●
185. 73616167 c.2267C>A p.A756E missense 0.00001666●●●●●●
186. 73615445 c.2989C>A p.P997T missense 0.00001665●●●●●●
187. 73660082 c.530C>T p.A177V missense 0.00001664●●●●●●
188. 73659820 c.785+7G>A splice site 0.00001664●●●●●●
189. 73617644 c.1732C>T p.R578W missense 0.00001657●●●●●●
190. 73622101 c.1403C>T p.A468V missense 0.00001650●●●●●●
191. 73635930 c.1005G>A p.M335I missense 0.00001649●●●●●●
192. 73636115 c.820G>A p.V274M missense 0.00001649●●●●●●
193. 73635941 c.994C>T p.R332W missense 0.00001649●●●●●●
194. 73635991 c.944G>A p.R315H missense 0.00001649●●●●●●
195. 73635872 c.1063A>G p.I355V missense 0.00001648●●●●●●
196. 73635841 c.1094C>T p.S365L missense 0.00001648●●●●●●
197. 73636022 c.913T>C p.F305L missense 0.00001648●●●●●●
198. 73635862 c.1073T>C p.I358T missense 0.00001648●●●●●●
199. 73617378 c.1896G>A p.M632I missense 0.00001647●●●●●●
200. 73617481 c.1793A>G p.N598S missense 0.00001647●●●●●●
201. 73617403 c.1871G>A p.R624Q missense 0.00001647●●●●●●
202. 73615465 c.2969C>T p.P990L missense 0.00001621●●●●●●
203. 73615013 c.3421C>T p.P1141S missense 0.00001567●●●●●●
204. 73615762 c.2672C>G p.S891W missense 0.00001445●●●●●●
205. 73660073 c.539A>C p.E180A missense 0.00001351●●●●●●
206. 73614860 c.3574C>T p.P1192S missense 0.00001298●●●●●●
207. 73614857 c.3577G>T p.E1193X nonsense 0.00001297●●●●●●
208. 73614851 c.3583G>T p.V1195L missense 0.00001295●●●●●●
209. 73614859 c.3575C>T p.P1192L missense 0.00001295●●●●●●
210. 73614839 c.3595C>A p.L1199M missense 0.00001294●●●●●●
211. 73615768 c.2666C>T p.S889F missense 0.00001291●●●●●●
212. 73615774 c.2660G>A p.C887Y missense 0.00001191●●●●●●
213. 73614933 c.3501G>T p.L1167F missense 0.00001157●●●●●●
214. 73614937 c.3497_3500delCTTT p.Ser1166CysfsTer14 frameshift 0.00001157●●●●●●
215. 73660053 c.559G>A p.A187T missense 0.00001117●●●●●●
216. 73660052 c.560C>A p.A187D missense 0.00001089●●●●●●
217. 73660050 c.562A>G p.I188V missense 0.00001070●●●●●●
218. 73660046 c.566A>G p.K189R missense 0.00001048●●●●●●
219. 73615784 c.2650C>T p.P884S missense 0.00001006●●●●●●
220. 73615787 c.2647C>T p.P883S missense 0.00000974●●●●●●
221. 73660031 c.581C>A p.A194E missense 0.00000973●●●●●●
222. 73615793 c.2641T>C p.S881P missense 0.00000921●●●●●●
223. 73615797 c.2637C>G p.S879R missense 0.00000902●●●●●●
224. 73616011 c.2423C>T p.P808L missense 0.00000898●●●●●●
225. 73616043 c.2391C>A p.H797Q missense 0.00000896●●●●●●
226. 73615997 c.2437G>A p.G813R missense 0.00000896●●●●●●
227. 73615987 c.2447A>G p.N816S missense 0.00000891●●●●●●
228. 73616078 c.2356G>A p.A786T missense 0.00000888●●●●●●
229. 73615972 c.2462A>G p.Q821R missense 0.00000881●●●●●●
230. 73615961 c.2473C>T p.H825Y missense 0.00000874●●●●●●
231. 73615951 c.2483G>A p.R828Q missense 0.00000868●●●●●●
232. 73615818 c.2616C>G p.S872R missense 0.00000864●●●●●●
233. 73659995 c.617T>C p.V206A missense 0.00000862●●●●●●
234. 73615825 c.2609G>A p.G870E missense 0.00000860●●●●●●
235. 73615934 c.2500C>T p.P834S missense 0.00000859●●●●●●
236. 73615829 c.2605G>C p.A869P missense 0.00000858●●●●●●
237. 73615829 c.2605G>A p.A869T missense 0.00000858●●●●●●
238. 73615916 c.2518G>C p.A840P missense 0.00000856●●●●●●
239. 73615863 c.2571C>G p.F857L missense 0.00000853●●●●●●
240. 73615906 c.2528C>A p.A843D missense 0.00000853●●●●●●
241. 73615871 c.2563T>C p.S855P missense 0.00000852●●●●●●
242. 73616120 c.2314G>A p.V772I missense 0.00000851●●●●●●
243. 73615879 c.2555C>T p.P852L missense 0.00000851●●●●●●
244. 73616120 c.2314G>C p.V772L missense 0.00000851●●●●●●
245. 73615889 c.2545delG p.Val849TrpfsTer23 frameshift 0.00000851●●●●●●
246. 73615874 c.2560T>C p.S854P missense 0.00000851●●●●●●
247. 73659987 c.625G>A p.G209S missense 0.00000850●●●●●●
248. 73616123 c.2311C>T p.P771S missense 0.00000848●●●●●●
249. 73616127 c.2307_2309delCAC p.Thr770del inframe 0.00000848●●●●●●
250. 73616129 c.2305C>T p.P769S missense 0.00000844●●●●●●
251. 73616435 c.2138G>A p.R713H missense 0.00000843●●●●●●
252. 73616138 c.2296A>G p.T766A missense 0.00000841●●●●●●
253. 73659972 c.640A>T p.M214L missense 0.00000841●●●●●●
254. 73616436 c.2137C>T p.R713C missense 0.00000841●●●●●●
255. 73659970 c.642G>T p.M214I missense 0.00000840●●●●●●
256. 73616146 c.2288C>A p.A763D missense 0.00000838●●●●●●
257. 73616576 c.1997G>A p.R666Q missense 0.00000838●●●●●●
258. 73659951 c.661A>G p.M221V missense 0.00000835●●●●●●
259. 73616570 c.2003G>A p.R668Q missense 0.00000835●●●●●●
260. 73616161 c.2273G>A p.R758H missense 0.00000835●●●●●●
261. 73616164 c.2270A>C p.H757P missense 0.00000834●●●●●●
262. 73616165 c.2269C>T p.H757Y missense 0.00000834●●●●●●
263. 73616278 c.2156C>A p.S719Y missense 0.00000833●●●●●●
264. 73616270 c.2164C>T p.L722F missense 0.00000833●●●●●●
265. 73635755 c.1180delC p.Leu394SerfsTer14 frameshift 0.00000832●●●●●●
266. 73659939 c.673G>A p.G225R missense 0.00000832●●●●●●
267. 73659822 c.785+5G>A splice site 0.00000832●●●●●●
268. 73659936 c.676G>A p.V226I missense 0.00000832●●●●●●
269. 73616179 c.2255T>C p.M752T missense 0.00000831●●●●●●
270. 73622133 c.1372-1G>A essential splice site 0.00000831●●●●●●
271. 73616185 c.2249G>A p.R750Q missense 0.00000831●●●●●●
272. 73616240 c.2194G>A p.G732S missense 0.00000831●●●●●●
273. 73659829 c.783C>A p.F261L missense 0.00000831●●●●●●
274. 73659915 c.697A>T p.M233L missense 0.00000830●●●●●●
275. 73616216 c.2218G>A p.E740K missense 0.00000830●●●●●●
276. 73616202 c.2232G>T p.Q744H missense 0.00000830●●●●●●
277. 73659917 c.695G>T p.R232M missense 0.00000830●●●●●●
278. 73616223 c.2211G>T p.Q737H missense 0.00000830●●●●●●
279. 73616550 c.2023G>A p.A675T missense 0.00000830●●●●●●
280. 73616191 c.2243A>T p.H748L missense 0.00000830●●●●●●
281. 73659885 c.727G>C p.E243Q missense 0.00000829●●●●●●
282. 73659869 c.743A>G p.K248R missense 0.00000829●●●●●●
283. 73617643 c.1733G>T p.R578L missense 0.00000829●●●●●●
284. 73616534 c.2039G>A p.R680H missense 0.00000829●●●●●●
285. 73622119 c.1385G>A p.G462E missense 0.00000827●●●●●●
286. 73621921 c.1583delA p.Gln528ArgfsTer46 frameshift 0.00000827●●●●●●
287. 73616504 c.2069A>G p.N690S missense 0.00000827●●●●●●
288. 73635775 c.1160G>A p.R387H missense 0.00000826●●●●●●
289. 73617312 c.1962C>G p.D654E missense 0.00000826●●●●●●
290. 73635981 c.954C>G p.I318M missense 0.00000825●●●●●●
291. 73617674 c.1702A>G p.S568G missense 0.00000825●●●●●●
292. 73636126 c.809dupT p.Leu271AlafsTer20 frameshift 0.00000825●●●●●●
293. 73621930 c.1574G>A p.R525H missense 0.00000825●●●●●●
294. 73635944 c.991C>A p.Q331K missense 0.00000825●●●●●●
295. 73635980 c.955G>A p.V319M missense 0.00000825●●●●●●
296. 73617715 c.1661A>G p.Y554C missense 0.00000824●●●●●●
297. 73617697 c.1679A>T p.Q560L missense 0.00000824●●●●●●
298. 73617515 c.1759C>T p.R587W missense 0.00000824●●●●●●
299. 73617478 c.1796C>T p.A599V missense 0.00000824●●●●●●
300. 73617332 c.1942A>G p.K648E missense 0.00000824●●●●●●
301. 73617385 c.1889A>C p.K630T missense 0.00000824●●●●●●
302. 73635812 c.1123C>T p.R375C missense 0.00000824●●●●●●
303. 73624603 c.1240G>A p.A414T missense 0.00000824●●●●●●
304. 73622030 c.1474G>A p.V492I missense 0.00000824●●●●●●
305. 73617760 c.1616C>A p.S539Y missense 0.00000824●●●●●●
306. 73617435 c.1839C>G p.F613L missense 0.00000824●●●●●●
307. 73635866 c.1069C>G p.L357V missense 0.00000824●●●●●●
308. 73624528 c.1315G>C p.V439L missense 0.00000824●●●●●●
309. 73617743 c.1633C>T p.P545S missense 0.00000824●●●●●●
310. 73617536 c.1738G>A p.E580K missense 0.00000824●●●●●●
311. 73635983 c.952A>G p.I318V missense 0.00000824●●●●●●
312. 73617337 c.1937G>A p.G646D missense 0.00000824●●●●●●
313. 73622037 c.1467G>A p.M489I missense 0.00000824●●●●●●
314. 73617703 c.1673G>A p.R558H missense 0.00000824●●●●●●
315. 73617677 c.1699G>A p.E567K missense 0.00000824●●●●●●
316. 73617440 c.1834C>T p.R612C missense 0.00000824●●●●●●
317. 73624539 c.1304T>C p.L435P missense 0.00000824●●●●●●
318. 73624576 c.1267G>A p.G423S missense 0.00000824●●●●●●
319. 73617745 c.1631C>T p.P544L missense 0.00000824●●●●●●
320. 73617434 c.1840G>A p.E614K missense 0.00000824●●●●●●
321. 73617410 c.1864A>G p.I622V missense 0.00000824●●●●●●
322. 73617340 c.1934A>G p.K645R missense 0.00000824●●●●●●
323. 73622018 c.1486A>G p.M496V missense 0.00000824●●●●●●
324. 73617764 c.1612A>G p.M538V missense 0.00000824●●●●●●
325. 73617710 c.1666G>A p.E556K missense 0.00000824●●●●●●
326. 73617678 c.1698G>C p.E566D missense 0.00000824●●●●●●
327. 73624471 c.1371+1G>T essential splice site 0.00000824●●●●●●
328. 73617510 c.1764G>C p.K588N missense 0.00000824●●●●●●
329. 73617455 c.1819A>G p.M607V missense 0.00000824●●●●●●
330. 73624546 c.1297G>A p.G433S missense 0.00000824●●●●●●
331. 73635906 c.1029G>A p.M343I missense 0.00000824●●●●●●
332. 73617728 c.1648C>T p.R550C missense 0.00000824●●●●●●
333. 73624594 c.1249C>G p.R417G missense 0.00000824●●●●●●
334. 73617753 c.1623C>A p.H541Q missense 0.00000824●●●●●●
335. 73617683 c.1693G>A p.D565N missense 0.00000824●●●●●●
336. 73617421 c.1853C>T p.P618L missense 0.00000824●●●●●●
337. 73624522 c.1321A>G p.M441V 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.