LAMA2 missense variants in ExAC

LAMA2 gene summary
LAMA2 variants in

The table below lists the LAMA2 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. 129807629 c.7760C>T p.A2587V missense 0.66784216●●●●●●
2. 129571330 c.1856G>A p.R619H missense 0.18275589●●●●●●
3. 129813053 c.7906A>G p.T2636A missense 0.09253773●●●●●●
4. 129635800 c.3412G>A p.V1138M missense 0.06873277●●●●●●
5. 129687396 c.4750G>A p.G1584S missense 0.01963176●●●●●●
6. 129612765 c.2756G>T p.R919L missense 0.01430631●●●●●●
7. 129571272 c.1798G>A p.G600R missense 0.01322189●●●●●●
8. 129722453 c.5530C>A p.R1844S missense 0.01073373●●●●●●
9. 129762042 c.6167C>A p.T2056K missense 0.00815029●●●●●●
10. 129824406 c.8528A>G p.N2843S missense 0.00699053●●●●●●
11. 129601231 c.2476C>T p.R826W missense 0.00503073●●●●●●
12. 129636678 c.3613A>G p.T1205A missense 0.00406096●●●●●●
13. 129670493 c.4487C>T p.A1496V missense 0.00334492●●●●●●
14. 129511468 c.1586G>A p.S529N missense 0.00325311●●●●●●
15. 129573274 c.1930C>G p.H644D missense 0.00290515●●●●●●
16. 129513850 c.1634T>A p.L545Q missense 0.00278338●●●●●●
17. 129794489 c.7431A>T p.R2477S missense 0.00259773●●●●●●
18. 129601217 c.2462C>T p.T821M missense 0.00203319●●●●●●
19. 129498947 c.1403C>G p.A468G missense 0.00179957●●●●●●
20. 129828704 c.8774C>T p.P2925L missense 0.00176309●●●●●●
21. 129513837 c.1621A>G p.S541G missense 0.00172807●●●●●●
22. 129634127 c.3296A>G p.N1099S missense 0.00168880●●●●●●
23. 129470136 c.922G>A p.E308K missense 0.00113743●●●●●●
24. 129204464 c.74C>T p.P25L missense 0.00106278●●●●●●
25. 129777560 c.6788C>T p.T2263M missense 0.00096447●●●●●●
26. 129588259 c.2217G>T p.W739C missense 0.00093983●●●●●●
27. 129748940 c.5909G>C p.C1970S missense 0.00089872●●●●●●
28. 129762036 c.6161A>G p.Q2054R missense 0.00075967●●●●●●
29. 129762003 c.6128A>G p.Q2043R missense 0.00073477●●●●●●
30. 129828685 c.8755C>T p.P2919S missense 0.00072502●●●●●●
31. 129723539 c.5633C>T p.S1878F missense 0.00071070●●●●●●
32. 129826481 c.8684C>G p.T2895S missense 0.00059360●●●●●●
33. 129828658 c.8728G>A p.V2910I missense 0.00056863●●●●●●
34. 129802475 c.7640G>A p.G2547E missense 0.00055237●●●●●●
35. 129722453 c.5530C>T p.R1844C missense 0.00049655●●●●●●
36. 129837463 c.9340G>A p.V3114I missense 0.00049585●●●●●●
37. 129712638 c.5074G>C p.V1692L missense 0.00045783●●●●●●
38. 129785553 c.7111T>G p.F2371V missense 0.00044523●●●●●●
39. 129775375 c.6649G>A p.V2217I missense 0.00040562●●●●●●
40. 129649547 c.4301C>T p.S1434L missense 0.00040365●●●●●●
41. 129635920 c.3532G>A p.A1178T missense 0.00039551●●●●●●
42. 129612764 c.2755C>T p.R919C missense 0.00039516●●●●●●
43. 129571288 c.1814C>T p.T605I missense 0.00038739●●●●●●
44. 129828772 c.8842G>A p.G2948S missense 0.00037913●●●●●●
45. 129704300 c.4993G>A p.G1665R missense 0.00037809●●●●●●
46. 129762081 c.6206A>G p.Y2069C missense 0.00035513●●●●●●
47. 129774242 c.6539A>T p.D2180V missense 0.00033073●●●●●●
48. 129687418 c.4772A>G p.Q1591R missense 0.00032978●●●●●●
49. 129634213 c.3382A>G p.S1128G missense 0.00030798●●●●●●
50. 129775423 c.6697G>A p.V2233I missense 0.00030784●●●●●●
51. 129823841 c.8282T>C p.I2761T missense 0.00028882●●●●●●
52. 129636730 c.3665A>G p.D1222G missense 0.00028828●●●●●●
53. 129722432 c.5509G>A p.D1837N missense 0.00028092●●●●●●
54. 129759824 c.6002G>A p.R2001K missense 0.00025776●●●●●●
55. 129663525 c.4349G>A p.R1450Q missense 0.00025544●●●●●●
56. 129618977 c.3004G>A p.G1002S missense 0.00023763●●●●●●
57. 129641781 c.4157A>T p.Y1386F missense 0.00023233●●●●●●
58. 129786384 c.7250A>G p.H2417R missense 0.00023201●●●●●●
59. 129670477 c.4471G>A p.D1491N missense 0.00023067●●●●●●
60. 129704328 c.5021G>A p.R1674K missense 0.00022734●●●●●●
61. 129774209 c.6506A>G p.N2169S missense 0.00022369●●●●●●
62. 129781361 c.6884G>A p.R2295H missense 0.00022298●●●●●●
63. 129704276 c.4969G>A p.V1657M missense 0.00022065●●●●●●
64. 129470160 c.946G>A p.D316N missense 0.00021438●●●●●●
65. 129775355 c.6629T>C p.V2210A missense 0.00019832●●●●●●
66. 129498944 c.1400A>G p.K467R missense 0.00019811●●●●●●
67. 129722454 c.5531G>A p.R1844H missense 0.00019035●●●●●●
68. 129621997 c.3154A>G p.S1052G missense 0.00018947●●●●●●
69. 129588330 c.2288C>T p.A763V missense 0.00018139●●●●●●
70. 129419358 c.437C>G p.S146C missense 0.00018123●●●●●●
71. 129722481 c.5558T>G p.I1853R missense 0.00017423●●●●●●
72. 129637268 c.4010A>G p.H1337R missense 0.00017357●●●●●●
73. 129785560 c.7118C>T p.S2373L missense 0.00017317●●●●●●
74. 129475707 c.1085G>T p.R362I missense 0.00017307●●●●●●
75. 129581891 c.2132A>G p.Y711C missense 0.00016478●●●●●●
76. 129794473 c.7415G>T p.G2472V missense 0.00015750●●●●●●
77. 129723595 c.5689G>A p.A1897T missense 0.00015692●●●●●●
78. 129785482 c.7040G>T p.G2347V missense 0.00015687●●●●●●
79. 129824266 c.8388A>C p.E2796D missense 0.00015655●●●●●●
80. 129828691 c.8761G>A p.D2921N missense 0.00015654●●●●●●
81. 129636693 c.3628A>G p.I1210V missense 0.00015650●●●●●●
82. 129634034 c.3203T>C p.L1068S missense 0.00015063●●●●●●
83. 129634075 c.3244C>T p.H1082Y missense 0.00014887●●●●●●
84. 129618966 c.2993G>A p.R998H missense 0.00014264●●●●●●
85. 129807641 c.7772A>G p.N2591S missense 0.00014027●●●●●●
86. 129813158 c.8011C>A p.P2671T missense 0.00014020●●●●●●
87. 129835690 c.9161C>A p.A3054E missense 0.00014017●●●●●●
88. 129828766 c.8836G>A p.G2946R missense 0.00014010●●●●●●
89. 129762111 c.6236C>T p.T2079M missense 0.00013232●●●●●●
90. 129670501 c.4495C>T p.R1499W missense 0.00013183●●●●●●
91. 129777604 c.6832A>G p.M2278V missense 0.00013182●●●●●●
92. 129775418 c.6692G>A p.R2231H missense 0.00012696●●●●●●
93. 129204397 c.7G>A p.G3R missense 0.00012505●●●●●●
94. 129835530 c.9001G>C p.V3001L missense 0.00012409●●●●●●
95. 129774266 c.6563G>A p.S2188N missense 0.00012403●●●●●●
96. 129802516 c.7681G>A p.G2561S missense 0.00012365●●●●●●
97. 129687408 c.4762C>T p.R1588C missense 0.00012365●●●●●●
98. 129475728 c.1106G>A p.R369H missense 0.00012360●●●●●●
99. 129204403 c.13G>A p.A5T missense 0.00012179●●●●●●
100. 129618987 c.3014A>G p.N1005S missense 0.00012046●●●●●●
101. 129468186 c.902C>T p.A301V missense 0.00011557●●●●●●
102. 129498917 c.1373G>A p.R458K missense 0.00011552●●●●●●
103. 129637033 c.3862G>A p.V1288I missense 0.00011543●●●●●●
104. 129636681 c.3616A>G p.T1206A missense 0.00011532●●●●●●
105. 129691106 c.4930G>A p.V1644M missense 0.00010761●●●●●●
106. 129813132 c.7985T>C p.V2662A missense 0.00010728●●●●●●
107. 129785554 c.7112T>G p.F2371C missense 0.00010719●●●●●●
108. 129674460 c.4675G>A p.G1559S missense 0.00010715●●●●●●
109. 129511377 c.1495C>T p.R499C missense 0.00010713●●●●●●
110. 129670468 c.4462G>A p.G1488R missense 0.00010710●●●●●●
111. 129371186 c.236G>A p.R79K missense 0.00010709●●●●●●
112. 129609124 c.2670A>C p.K890N missense 0.00010707●●●●●●
113. 129204418 c.28C>T p.L10F missense 0.00010610●●●●●●
114. 129618905 c.2932G>A p.D978N missense 0.00009919●●●●●●
115. 129591771 c.2325C>A p.N775K missense 0.00009909●●●●●●
116. 129419544 c.623C>A p.P208H missense 0.00009907●●●●●●
117. 129513861 c.1645C>T p.P549S missense 0.00009901●●●●●●
118. 129833555 c.8905C>T p.R2969C missense 0.00009897●●●●●●
119. 129419454 c.533C>T p.T178M missense 0.00009885●●●●●●
120. 129371101 c.151C>T p.L51F missense 0.00009884●●●●●●
121. 129766887 c.6350A>G p.K2117R missense 0.00009105●●●●●●
122. 129691085 c.4909G>A p.E1637K missense 0.00009098●●●●●●
123. 129799852 c.7466T>C p.L2489P missense 0.00009081●●●●●●
124. 129824402 c.8524A>G p.I2842V missense 0.00009076●●●●●●
125. 129833568 c.8918C>T p.T2973M missense 0.00009069●●●●●●
126. 129670483 c.4477C>T p.R1493C missense 0.00009062●●●●●●
127. 129774133 c.6430A>C p.I2144L missense 0.00008719●●●●●●
128. 129714272 c.5317C>T p.R1773W missense 0.00008268●●●●●●
129. 129785499 c.7057C>T p.R2353C missense 0.00008254●●●●●●
130. 129785500 c.7058G>A p.R2353H missense 0.00008254●●●●●●
131. 129722400 c.5477G>A p.R1826Q missense 0.00008241●●●●●●
132. 129824345 c.8467C>T p.P2823S missense 0.00008240●●●●●●
133. 129371201 c.251G>A p.R84Q missense 0.00008238●●●●●●
134. 129419391 c.470C>G p.S157C missense 0.00008237●●●●●●
135. 129823916 c.8357G>A p.R2786H missense 0.00007656●●●●●●
136. 129635813 c.3425G>C p.G1142A missense 0.00007488●●●●●●
137. 129612776 c.2767G>A p.G923S missense 0.00007486●●●●●●
138. 129714246 c.5291A>G p.E1764G missense 0.00007478●●●●●●
139. 129762104 c.6229G>A p.A2077T missense 0.00007442●●●●●●
140. 129813531 c.8147G>A p.R2716H missense 0.00007442●●●●●●
141. 129498935 c.1391C>T p.P464L missense 0.00007429●●●●●●
142. 129618854 c.2881G>A p.A961T missense 0.00007429●●●●●●
143. 129826487 c.8690G>A p.R2897Q missense 0.00007421●●●●●●
144. 129833568 c.8918C>A p.T2973K missense 0.00007420●●●●●●
145. 129581908 c.2149A>G p.I717V missense 0.00007416●●●●●●
146. 129419474 c.553C>T p.R185C missense 0.00007414●●●●●●
147. 129486815 c.1301G>A p.R434Q missense 0.00007252●●●●●●
148. 129204442 c.52G>T p.G18W missense 0.00007175●●●●●●
149. 129704357 c.5050G>A p.E1684K missense 0.00006966●●●●●●
150. 129759821 c.5999C>A p.T2000N missense 0.00006654●●●●●●
151. 129691121 c.4945G>C p.E1649Q missense 0.00006630●●●●●●
152. 129465130 c.724C>T p.R242C missense 0.00006610●●●●●●
153. 129775324 c.6598C>T p.R2200C missense 0.00006609●●●●●●
154. 129813125 c.7978C>A p.L2660I missense 0.00006604●●●●●●
155. 129807686 c.7817T>C p.M2606T missense 0.00006599●●●●●●
156. 129573353 c.2009G>A p.R670H missense 0.00006598●●●●●●
157. 129826387 c.8590G>C p.D2864H missense 0.00006598●●●●●●
158. 129802543 c.7708A>G p.T2570A missense 0.00006595●●●●●●
159. 129835674 c.9145C>G p.Q3049E missense 0.00006595●●●●●●
160. 129833627 c.8977A>G p.I2993V missense 0.00006592●●●●●●
161. 129419330 c.409G>A p.A137T missense 0.00006590●●●●●●
162. 129823903 c.8344A>G p.K2782E missense 0.00005864●●●●●●
163. 129712707 c.5143G>A p.E1715K missense 0.00005802●●●●●●
164. 129691121 c.4945G>A p.E1649K missense 0.00005801●●●●●●
165. 129766859 c.6322C>T p.R2108W missense 0.00005792●●●●●●
166. 129691055 c.4879C>T p.R1627W missense 0.00005792●●●●●●
167. 129712743 c.5179G>C p.E1727Q missense 0.00005789●●●●●●
168. 129837451 c.9328G>A p.E3110K missense 0.00005776●●●●●●
169. 129674377 c.4592C>G p.P1531R missense 0.00005776●●●●●●
170. 129714360 c.5405G>T p.R1802L missense 0.00005775●●●●●●
171. 129573383 c.2039A>G p.N680S missense 0.00005773●●●●●●
172. 129588282 c.2240G>C p.G747A missense 0.00005770●●●●●●
173. 129649451 c.4205G>A p.R1402H missense 0.00005766●●●●●●
174. 129419442 c.521C>T p.T174M missense 0.00005766●●●●●●
175. 129636751 c.3686A>C p.H1229P missense 0.00005766●●●●●●
176. 129511483 c.1601A>T p.Y534F missense 0.00005003●●●●●●
177. 129601267 c.2512G>A p.G838R missense 0.00004961●●●●●●
178. 129465121 c.715C>T p.R239C missense 0.00004959●●●●●●
179. 129837463 c.9340G>T p.V3114F missense 0.00004959●●●●●●
180. 129513831 c.1615G>C p.D539H missense 0.00004956●●●●●●
181. 129781360 c.6883C>T p.R2295C missense 0.00004955●●●●●●
182. 129833540 c.8890G>T p.V2964L missense 0.00004951●●●●●●
183. 129687432 c.4786A>G p.I1596V missense 0.00004948●●●●●●
184. 129748904 c.5873G>A p.G1958D missense 0.00004948●●●●●●
185. 129785530 c.7088C>T p.T2363I missense 0.00004947●●●●●●
186. 129826441 c.8644G>A p.V2882M missense 0.00004946●●●●●●
187. 129833570 c.8920A>T p.T2974S missense 0.00004946●●●●●●
188. 129571290 c.1816A>G p.I606V missense 0.00004945●●●●●●
189. 129634115 c.3284G>A p.R1095Q missense 0.00004944●●●●●●
190. 129824264 c.8386G>A p.E2796K missense 0.00004944●●●●●●
191. 129635927 c.3539G>C p.G1180A missense 0.00004944●●●●●●
192. 129609189 c.2735C>T p.A912V missense 0.00004943●●●●●●
193. 129419400 c.479A>T p.D160V missense 0.00004942●●●●●●
194. 129371092 c.142T>C p.S48P missense 0.00004942●●●●●●
195. 129636760 c.3695C>A p.P1232H missense 0.00004942●●●●●●
196. 129204425 c.35T>A p.L12Q missense 0.00004924●●●●●●
197. 129204488 c.98C>A p.A33E missense 0.00004917●●●●●●
198. 129486769 c.1255A>G p.I419V missense 0.00004279●●●●●●
199. 129823915 c.8356C>T p.R2786C missense 0.00004249●●●●●●
200. 129634234 c.3403A>C p.T1135P missense 0.00004220●●●●●●
201. 129612840 c.2831A>G p.Q944R missense 0.00004143●●●●●●
202. 129766860 c.6323G>A p.R2108Q missense 0.00004137●●●●●●
203. 129511444 c.1562C>T p.S521L missense 0.00004134●●●●●●
204. 129714273 c.5318G>A p.R1773Q missense 0.00004134●●●●●●
205. 129465086 c.680A>G p.D227G missense 0.00004134●●●●●●
206. 129601232 c.2477G>A p.R826Q missense 0.00004130●●●●●●
207. 129781385 c.6908T>C p.M2303T missense 0.00004130●●●●●●
208. 129826350 c.8553G>T p.K2851N missense 0.00004130●●●●●●
209. 129511428 c.1546G>C p.D516H missense 0.00004129●●●●●●
210. 129762011 c.6136G>A p.D2046N missense 0.00004128●●●●●●
211. 129637235 c.3977G>A p.R1326Q missense 0.00004128●●●●●●
212. 129571347 c.1873A>G p.I625V missense 0.00004124●●●●●●
213. 129371231 c.281A>G p.N94S missense 0.00004124●●●●●●
214. 129714332 c.5377G>A p.A1793T missense 0.00004123●●●●●●
215. 129802439 c.7604G>A p.G2535D missense 0.00004123●●●●●●
216. 129468141 c.857T>G p.M286R missense 0.00004123●●●●●●
217. 129714315 c.5360G>C p.W1787S missense 0.00004123●●●●●●
218. 129674425 c.4640C>T p.T1547M missense 0.00004122●●●●●●
219. 129674481 c.4696C>T p.R1566C missense 0.00004122●●●●●●
220. 129799900 c.7514C>T p.P2505L missense 0.00004122●●●●●●
221. 129835635 c.9106C>T p.R3036C missense 0.00004122●●●●●●
222. 129835686 c.9157C>T p.P3053S missense 0.00004122●●●●●●
223. 129777578 c.6806C>T p.T2269M missense 0.00004120●●●●●●
224. 129837385 c.9262A>G p.I3088V missense 0.00004120●●●●●●
225. 129419463 c.542A>G p.N181S missense 0.00004119●●●●●●
226. 129371173 c.223G>A p.G75R missense 0.00004119●●●●●●
227. 129419336 c.415G>A p.V139M missense 0.00004119●●●●●●
228. 129371192 c.242C>T p.P81L missense 0.00004119●●●●●●
229. 129837346 c.9223C>A p.Q3075K missense 0.00004119●●●●●●
230. 129636731 c.3666C>A p.D1222E missense 0.00004118●●●●●●
231. 129704366 c.5059C>T p.R1687W missense 0.00003589●●●●●●
232. 129775417 c.6691C>T p.R2231C missense 0.00003385●●●●●●
233. 129759800 c.5978A>G p.D1993G missense 0.00003342●●●●●●
234. 129714234 c.5279A>G p.E1760G missense 0.00003337●●●●●●
235. 129714239 c.5284C>T p.R1762W missense 0.00003334●●●●●●
236. 129723631 c.5725G>C p.G1909R missense 0.00003332●●●●●●
237. 129637307 c.4049G>A p.R1350Q missense 0.00003326●●●●●●
238. 129759869 c.6047T>C p.L2016S missense 0.00003320●●●●●●
239. 129612842 c.2833G>A p.G945S missense 0.00003317●●●●●●
240. 129794472 c.7414G>T p.G2472C missense 0.00003315●●●●●●
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287. 129601282 c.2527C>T p.R843C missense 0.00002486●●●●●●
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290. 129687469 c.4823T>C p.M1608T missense 0.00002485●●●●●●
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293. 129786321 c.7187G>A p.G2396E missense 0.00002484●●●●●●
294. 129775373 c.6647G>A p.R2216H missense 0.00002483●●●●●●
295. 129601268 c.2513G>A p.G838E missense 0.00002481●●●●●●
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299. 129465124 c.718T>C p.Y240H missense 0.00002479●●●●●●
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305. 129513931 c.1715C>T p.A572V missense 0.00002477●●●●●●
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321. 129807695 c.7826T>C p.I2609T missense 0.00002475●●●●●●
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330. 129807721 c.7852T>C p.F2618L missense 0.00002474●●●●●●
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339. 129571294 c.1820C>T p.S607L missense 0.00002473●●●●●●
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343. 129674454 c.4669T>C p.C1557R missense 0.00002473●●●●●●
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349. 129826448 c.8651T>C p.M2884T missense 0.00002473●●●●●●
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477. 129621913 c.3070G>A p.D1024N missense 0.00001648●●●●●●
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968. 129371210 c.260A>C p.N87T missense 0.00000824●●●●●●
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970. 129419355 c.434A>G p.N145S missense 0.00000824●●●●●●
971. 129419384 c.463G>A p.E155K missense 0.00000824●●●●●●
972. 129419400 c.479A>G p.D160G missense 0.00000824●●●●●●
973. 129419413 c.492G>T p.K164N missense 0.00000824●●●●●●
974. 129419414 c.493C>A p.P165T missense 0.00000824●●●●●●
975. 129419439 c.518A>T p.D173V missense 0.00000824●●●●●●
976. 129419465 c.544A>G p.I182V missense 0.00000824●●●●●●
977. 129419467 c.546T>G p.I182M missense 0.00000824●●●●●●
978. 129419487 c.566C>T p.P189L missense 0.00000824●●●●●●
979. 129419493 c.572A>G p.Y191C missense 0.00000824●●●●●●
980. 129419513 c.592A>G p.I198V missense 0.00000824●●●●●●
981. 129470142 c.928G>C p.E310Q missense 0.00000824●●●●●●
982. 129470155 c.941G>A p.C314Y missense 0.00000824●●●●●●
983. 129475739 c.1117A>G p.I373V missense 0.00000824●●●●●●
984. 129475746 c.1124G>A p.G375E missense 0.00000824●●●●●●
985. 129475751 c.1129G>A p.V377I missense 0.00000824●●●●●●
986. 129475752 c.1130T>C p.V377A missense 0.00000824●●●●●●
987. 129475754 c.1132T>C p.C378R missense 0.00000824●●●●●●
988. 129475761 c.1139A>G p.N380S missense 0.00000824●●●●●●
989. 129511375 c.1493G>T p.S498I missense 0.00000824●●●●●●
990. 129511376 c.1494T>A p.S498R missense 0.00000824●●●●●●
991. 129511378 c.1496G>A p.R499H missense 0.00000824●●●●●●
992. 129511384 c.1502A>T p.K501I missense 0.00000824●●●●●●
993. 129511395 c.1513T>C p.F505L missense 0.00000824●●●●●●
994. 129511399 c.1517A>G p.N506S missense 0.00000824●●●●●●
995. 129511399 c.1517A>T p.N506I missense 0.00000824●●●●●●
996. 129513882 c.1666C>T p.P556S missense 0.00000824●●●●●●
997. 129513883 c.1667C>T p.P556L missense 0.00000824●●●●●●
998. 129513891 c.1675G>C p.D559H missense 0.00000824●●●●●●
999. 129513891 c.1675G>A p.D559N missense 0.00000824●●●●●●
1000. 129513894 c.1678G>A p.D560N missense 0.00000824●●●●●●
1001. 129513894 c.1678G>T p.D560Y missense 0.00000824●●●●●●
1002. 129513897 c.1681T>G p.L561V missense 0.00000824●●●●●●
1003. 129513909 c.1693C>G p.Q565E missense 0.00000824●●●●●●
1004. 129571291 c.1817T>C p.I606T missense 0.00000824●●●●●●
1005. 129571324 c.1850C>T p.T617I missense 0.00000824●●●●●●
1006. 129571329 c.1855C>T p.R619C missense 0.00000824●●●●●●
1007. 129581881 c.2122G>A p.A708T missense 0.00000824●●●●●●
1008. 129581887 c.2128T>G p.S710A missense 0.00000824●●●●●●
1009. 129588259 c.2217G>C p.W739C missense 0.00000824●●●●●●
1010. 129588273 c.2231G>A p.R744Q missense 0.00000824●●●●●●
1011. 129588284 c.2242A>G p.T748A missense 0.00000824●●●●●●
1012. 129588294 c.2252G>T p.G751V missense 0.00000824●●●●●●
1013. 129588299 c.2257A>T p.I753F missense 0.00000824●●●●●●
1014. 129588313 c.2271T>G p.C757W missense 0.00000824●●●●●●
1015. 129588334 c.2292G>T p.E764D missense 0.00000824●●●●●●
1016. 129609018 c.2564C>T p.P855L missense 0.00000824●●●●●●
1017. 129609033 c.2579G>T p.G860V missense 0.00000824●●●●●●
1018. 129609054 c.2600G>T p.C867F missense 0.00000824●●●●●●
1019. 129609065 c.2611C>T p.L871F missense 0.00000824●●●●●●
1020. 129609074 c.2620T>C p.S874P missense 0.00000824●●●●●●
1021. 129609080 c.2626C>A p.P876T missense 0.00000824●●●●●●
1022. 129609081 c.2627C>T p.P876L missense 0.00000824●●●●●●
1023. 129609096 c.2642G>A p.S881N missense 0.00000824●●●●●●
1024. 129609108 c.2654C>T p.S885F missense 0.00000824●●●●●●
1025. 129609122 c.2668A>G p.K890E missense 0.00000824●●●●●●
1026. 129609140 c.2686C>T p.R896W missense 0.00000824●●●●●●
1027. 129609161 c.2707G>A p.D903N missense 0.00000824●●●●●●
1028. 129609174 c.2720G>A p.G907E missense 0.00000824●●●●●●
1029. 129609180 c.2726C>T p.A909V missense 0.00000824●●●●●●
1030. 129609185 c.2731G>A p.D911N missense 0.00000824●●●●●●
1031. 129609195 c.2741A>G p.N914S missense 0.00000824●●●●●●
1032. 129609203 c.2749C>A p.P917T missense 0.00000824●●●●●●
1033. 129621895 c.3052C>T p.H1018Y missense 0.00000824●●●●●●
1034. 129621922 c.3079A>G p.T1027A missense 0.00000824●●●●●●
1035. 129621934 c.3091A>G p.I1031V missense 0.00000824●●●●●●
1036. 129621938 c.3095G>A p.C1032Y missense 0.00000824●●●●●●
1037. 129621947 c.3104A>G p.N1035S missense 0.00000824●●●●●●
1038. 129621983 c.3140A>G p.N1047S missense 0.00000824●●●●●●
1039. 129621992 c.3149G>T p.G1050V missense 0.00000824●●●●●●
1040. 129634124 c.3293G>T p.W1098L missense 0.00000824●●●●●●
1041. 129634129 c.3298T>C p.Y1100H missense 0.00000824●●●●●●
1042. 129634135 c.3304C>T p.R1102C missense 0.00000824●●●●●●
1043. 129634136 c.3305G>A p.R1102H missense 0.00000824●●●●●●
1044. 129634181 c.3350C>T p.T1117I missense 0.00000824●●●●●●
1045. 129635921 c.3533C>A p.A1178E missense 0.00000824●●●●●●
1046. 129635926 c.3538G>A p.G1180R missense 0.00000824●●●●●●
1047. 129635927 c.3539G>T p.G1180V missense 0.00000824●●●●●●
1048. 129635943 c.3555G>C p.W1185C missense 0.00000824●●●●●●
1049. 129636638 c.3573G>T p.E1191D missense 0.00000824●●●●●●
1050. 129636643 c.3578C>G p.T1193S missense 0.00000824●●●●●●
1051. 129636649 c.3584T>C p.L1195P missense 0.00000824●●●●●●
1052. 129636651 c.3586C>T p.P1196S missense 0.00000824●●●●●●
1053. 129636658 c.3593T>C p.V1198A missense 0.00000824●●●●●●
1054. 129636666 c.3601G>T p.A1201S missense 0.00000824●●●●●●
1055. 129636669 c.3604C>G p.L1202V missense 0.00000824●●●●●●
1056. 129636672 c.3607C>A p.Q1203K missense 0.00000824●●●●●●
1057. 129636675 c.3610C>T p.H1204Y missense 0.00000824●●●●●●
1058. 129636715 c.3650T>C p.I1217T missense 0.00000824●●●●●●
1059. 129636726 c.3661A>G p.M1221V missense 0.00000824●●●●●●
1060. 129636733 c.3668T>C p.L1223P missense 0.00000824●●●●●●
1061. 129636965 c.3794C>T p.T1265I missense 0.00000824●●●●●●
1062. 129637001 c.3830G>A p.R1277Q missense 0.00000824●●●●●●
1063. 129637033 c.3862G>T p.V1288F missense 0.00000824●●●●●●
1064. 129649433 c.4187C>T p.P1396L missense 0.00000824●●●●●●
1065. 129649445 c.4199G>A p.R1400Q missense 0.00000824●●●●●●
1066. 129649450 c.4204C>T p.R1402C missense 0.00000824●●●●●●
1067. 129649472 c.4226C>A p.T1409N missense 0.00000824●●●●●●
1068. 129649474 c.4228C>G p.P1410A missense 0.00000824●●●●●●
1069. 129649475 c.4229C>T p.P1410L missense 0.00000824●●●●●●
1070. 129649478 c.4232G>A p.G1411E missense 0.00000824●●●●●●
1071. 129649484 c.4238C>T p.T1413I missense 0.00000824●●●●●●
1072. 129649487 c.4241T>G p.L1414R missense 0.00000824●●●●●●
1073. 129649490 c.4244G>A p.G1415D missense 0.00000824●●●●●●
1074. 129649493 c.4247C>T p.T1416I missense 0.00000824●●●●●●
1075. 129649552 c.4306T>C p.C1436R missense 0.00000824●●●●●●
1076. 129663499 c.4323T>A p.H1441Q missense 0.00000824●●●●●●
1077. 129663542 c.4366T>C p.Y1456H missense 0.00000824●●●●●●
1078. 129663563 c.4387C>A p.P1463T missense 0.00000824●●●●●●
1079. 129670446 c.4440C>G p.F1480L missense 0.00000824●●●●●●
1080. 129670490 c.4484C>A p.T1495K missense 0.00000824●●●●●●
1081. 129670499 c.4493C>T p.P1498L missense 0.00000824●●●●●●
1082. 129670502 c.4496G>T p.R1499L missense 0.00000824●●●●●●
1083. 129670504 c.4498G>C p.G1500R missense 0.00000824●●●●●●
1084. 129674446 c.4661G>A p.G1554E missense 0.00000824●●●●●●
1085. 129674451 c.4666A>G p.K1556E missense 0.00000824●●●●●●
1086. 129687379 c.4733G>T p.C1578F missense 0.00000824●●●●●●
1087. 129687396 c.4750G>C p.G1584R missense 0.00000824●●●●●●
1088. 129687409 c.4763G>A p.R1588H missense 0.00000824●●●●●●
1089. 129687414 c.4768G>C p.E1590Q missense 0.00000824●●●●●●
1090. 129722381 c.5458G>A p.A1820T missense 0.00000824●●●●●●
1091. 129722394 c.5471G>A p.G1824D missense 0.00000824●●●●●●
1092. 129722424 c.5501A>G p.E1834G missense 0.00000824●●●●●●
1093. 129724985 c.5746A>C p.N1916H missense 0.00000824●●●●●●
1094. 129724988 c.5749A>T p.I1917F missense 0.00000824●●●●●●
1095. 129725004 c.5765C>T p.T1922I missense 0.00000824●●●●●●
1096. 129725006 c.5767G>T p.A1923S missense 0.00000824●●●●●●
1097. 129725006 c.5767G>A p.A1923T missense 0.00000824●●●●●●
1098. 129748930 c.5899G>T p.A1967S missense 0.00000824●●●●●●
1099. 129748934 c.5903A>G p.K1968R missense 0.00000824●●●●●●
1100. 129777537 c.6765T>G p.I2255M missense 0.00000824●●●●●●
1101. 129777554 c.6782A>G p.H2261R missense 0.00000824●●●●●●
1102. 129777571 c.6799G>A p.G2267R missense 0.00000824●●●●●●
1103. 129777595 c.6823G>A p.A2275T missense 0.00000824●●●●●●
1104. 129777596 c.6824C>G p.A2275G missense 0.00000824●●●●●●
1105. 129777619 c.6847G>T p.G2283C missense 0.00000824●●●●●●
1106. 129799903 c.7517A>C p.Y2506S missense 0.00000824●●●●●●
1107. 129799920 c.7534C>T p.P2512S missense 0.00000824●●●●●●
1108. 129799945 c.7559G>A p.G2520E missense 0.00000824●●●●●●
1109. 129799953 c.7567C>G p.L2523V missense 0.00000824●●●●●●
1110. 129802459 c.7624G>C p.V2542L missense 0.00000824●●●●●●
1111. 129802466 c.7631T>C p.I2544T missense 0.00000824●●●●●●
1112. 129802475 c.7640G>C p.G2547A missense 0.00000824●●●●●●
1113. 129802483 c.7648A>G p.I2550V missense 0.00000824●●●●●●
1114. 129802541 c.7706G>T p.G2569V missense 0.00000824●●●●●●
1115. 129824261 c.8383A>G p.T2795A missense 0.00000824●●●●●●
1116. 129824261 c.8383A>T p.T2795S missense 0.00000824●●●●●●
1117. 129824276 c.8398G>A p.G2800S missense 0.00000824●●●●●●
1118. 129824289 c.8411A>C p.Y2804S missense 0.00000824●●●●●●
1119. 129824297 c.8419C>G p.R2807G missense 0.00000824●●●●●●
1120. 129824298 c.8420G>A p.R2807H missense 0.00000824●●●●●●
1121. 129824322 c.8444C>G p.T2815R missense 0.00000824●●●●●●
1122. 129824324 c.8446G>C p.V2816L missense 0.00000824●●●●●●
1123. 129824364 c.8486T>C p.L2829S missense 0.00000824●●●●●●
1124. 129824370 c.8492G>C p.S2831T missense 0.00000824●●●●●●
1125. 129826411 c.8614A>G p.S2872G missense 0.00000824●●●●●●
1126. 129826424 c.8627C>G p.A2876G missense 0.00000824●●●●●●
1127. 129826454 c.8657A>G p.Y2886C missense 0.00000824●●●●●●
1128. 129826459 c.8662G>T p.G2888C missense 0.00000824●●●●●●
1129. 129826476 c.8679C>A p.N2893K missense 0.00000824●●●●●●
1130. 129828644 c.8714G>A p.S2905N missense 0.00000824●●●●●●
1131. 129828647 c.8717T>C p.I2906T missense 0.00000824●●●●●●
1132. 129828666 c.8736T>G p.N2912K missense 0.00000824●●●●●●
1133. 129828689 c.8759C>A p.A2920D missense 0.00000824●●●●●●
1134. 129828712 c.8782A>G p.S2928G missense 0.00000824●●●●●●
1135. 129828749 c.8819G>A p.R2940K missense 0.00000824●●●●●●
1136. 129828782 c.8852A>T p.K2951I missense 0.00000824●●●●●●
1137. 129833570 c.8920A>C p.T2974P missense 0.00000824●●●●●●
1138. 129833589 c.8939T>A p.I2980N missense 0.00000824●●●●●●
1139. 129833591 c.8941A>G p.S2981G missense 0.00000824●●●●●●
1140. 129833595 c.8945G>T p.S2982I missense 0.00000824●●●●●●
1141. 129833606 c.8956G>A p.D2986N missense 0.00000824●●●●●●
1142. 129833634 c.8984A>G p.E2995G missense 0.00000824●●●●●●
1143. 129833637 c.8987A>C p.K2996T missense 0.00000824●●●●●●
1144. 129835639 c.9110T>C p.I3037T missense 0.00000824●●●●●●
1145. 129835653 c.9124G>T p.D3042Y missense 0.00000824●●●●●●
1146. 129835657 c.9128G>A p.G3043E missense 0.00000824●●●●●●
1147. 129835678 c.9149G>C p.S3050T missense 0.00000824●●●●●●
1148. 129837341 c.9218T>C p.L3073P missense 0.00000824●●●●●●
1149. 129837368 c.9245T>A p.I3082N missense 0.00000824●●●●●●
1150. 129837383 c.9260G>C p.C3087S missense 0.00000824●●●●●●
1151. 129837400 c.9277C>T p.L3093F missense 0.00000824●●●●●●
1152. 129837424 c.9301C>A p.L3101M missense 0.00000824●●●●●●
1153. 129837425 c.9302T>A p.L3101Q 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.