SCN5A variants in ExAC

SCN5A gene summary
SCN5A variants in

The table below lists the SCN5A 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. 38645420 c.1673A>G p.H558R missense 0.22173617●●●●●●
2. 38647642 c.1141-3C>A splice site 0.17223422●●●●●●
3. 38622868 c.2788-6C>T splice site 0.03963846●●●●●●
4. 38674699 c.100C>T p.R34C missense 0.00946245●●●●●●
5. 38620907 c.3308C>A p.S1103Y missense 0.00799020●●●●●●
6. 38618142 c.3511+10C>T splice site 0.00643103●●●●●●
7. 38616876 c.3578G>A p.R1193Q missense 0.00621531●●●●●●
8. 38592012 c.5851G>T p.V1951L missense 0.00541198●●●●●●
9. 38645522 c.1571C>A p.S524Y missense 0.00511545●●●●●●
10. 38645378 c.1715C>A p.A572D missense 0.00430377●●●●●●
11. 38591853 c.6010T>C p.F2004L missense 0.00201768●●●●●●
12. 38620946 c.3269C>T p.P1090L missense 0.00171474●●●●●●
13. 38591847 c.6016C>G p.P2006A missense 0.00134075●●●●●●
14. 38646357 c.1381T>G p.L461V missense 0.00116287●●●●●●
15. 38646297 c.1441C>T p.R481W missense 0.00113007●●●●●●
16. 38655278 c.659C>T p.T220I missense 0.00101159●●●●●●
17. 38655290 c.647C>T p.S216L missense 0.00100046●●●●●●
18. 38640418 c.2014G>A p.A672T missense 0.00088993●●●●●●
19. 38647444 c.1336G>A p.E446K missense 0.00072239●●●●●●
20. 38592503 c.5360G>A p.S1787N missense 0.00061197●●●●●●
21. 38645241 c.1852C>T p.L618F missense 0.00057249●●●●●●
22. 38603947 c.3922C>T p.L1308F missense 0.00055339●●●●●●
23. 38662377 c.568C>G p.R190G missense 0.00054606●●●●●●
24. 38603991 c.3878T>C p.F1293S missense 0.00040363●●●●●●
25. 38640465 c.1967C>T p.P656L missense 0.00039225●●●●●●
26. 38662392 c.553G>A p.A185T missense 0.00038490●●●●●●
27. 38622582 c.3068G>A p.R1023H missense 0.00035665●●●●●●
28. 38627537 c.2437-5C>A splice site 0.00034623●●●●●●
29. 38595989 c.4594G>A p.V1532I missense 0.00033955●●●●●●
30. 38674747 c.52C>T p.R18W missense 0.00032601●●●●●●
31. 38662449 c.496G>A p.A166T missense 0.00032201●●●●●●
32. 38622640 c.3010T>C p.C1004R missense 0.00031447●●●●●●
33. 38655243 c.694G>A p.V232I missense 0.00031192●●●●●●
34. 38591900 c.5963T>G p.L1988R missense 0.00030799●●●●●●
35. 38592408 c.5455G>A p.D1819N missense 0.00030631●●●●●●
36. 38651221 c.934+4C>T splice site 0.00029208●●●●●●
37. 38651303 c.856G>T p.A286S missense 0.00029009●●●●●●
38. 38639408 c.2074C>A p.Q692K missense 0.00028223●●●●●●
39. 38618279 c.3391-7T>C splice site 0.00027924●●●●●●
40. 38598067 c.4302T>C p.Y1434Y splice site 0.00026680●●●●●●
41. 38607989 c.3751G>A p.V1251M missense 0.00026373●●●●●●
42. 38671821 c.373G>C p.V125L missense 0.00025676●●●●●●
43. 38674719 c.80G>A p.R27H missense 0.00023303●●●●●●
44. 38592356 c.5507T>C p.I1836T missense 0.00023184●●●●●●
45. 38645249 c.1844G>A p.G615E missense 0.00023005●●●●●●
46. 38603958 c.3911C>T p.T1304M missense 0.00022498●●●●●●
47. 38646366 c.1372C>T p.R458C missense 0.00019475●●●●●●
48. 38663937 c.436G>A p.V146M missense 0.00019118●●●●●●
49. 38645379 c.1714G>T p.A572S missense 0.00019073●●●●●●
50. 38645378 c.1715C>T p.A572V missense 0.00019073●●●●●●
51. 38592152 c.5711C>T p.S1904L missense 0.00019045●●●●●●
52. 38620896 c.3319G>A p.E1107K missense 0.00018418●●●●●●
53. 38649637 c.998+5G>A splice site 0.00018220●●●●●●
54. 38620868 c.3347G>A p.R1116Q missense 0.00017588●●●●●●
55. 38607905 c.3835G>A p.V1279I missense 0.00016520●●●●●●
56. 38627472 c.2497G>A p.G833R missense 0.00016505●●●●●●
57. 38651264 c.895T>A p.L299M missense 0.00015807●●●●●●
58. 38645337 c.1756_1761delGCCCTC p.Ala586_Leu587del inframe 0.00015051●●●●●●
59. 38591978 c.5885C>T p.P1962L missense 0.00015002●●●●●●
60. 38620923 c.3292G>T p.V1098L missense 0.00014761●●●●●●
61. 38616915 c.3539C>T p.A1180V missense 0.00014673●●●●●●
62. 38674696 c.103G>A p.G35S missense 0.00014304●●●●●●
63. 38627199 c.2770G>A p.V924I missense 0.00013737●●●●●●
64. 38655260 c.677C>T p.A226V missense 0.00013493●●●●●●
65. 38608013 c.3727G>A p.D1243N missense 0.00013198●●●●●●
66. 38663985 c.393-5C>A splice site 0.00012968●●●●●●
67. 38622661 c.2989G>A p.A997T missense 0.00012477●●●●●●
68. 38622444 c.3206C>T p.T1069M missense 0.00012178●●●●●●
69. 38639416 c.2066G>A p.R689H missense 0.00011647●●●●●●
70. 38645358 c.1735G>A p.G579R missense 0.00011622●●●●●●
71. 38639380 c.2102C>T p.P701L missense 0.00011594●●●●●●
72. 38662376 c.569G>A p.R190Q missense 0.00011308●●●●●●
73. 38645495 c.1598G>A p.R533H missense 0.00011272●●●●●●
74. 38607892 c.3840+8T>C splice site 0.00010779●●●●●●
75. 38620853 c.3362C>T p.A1121V missense 0.00010451●●●●●●
76. 38616877 c.3577C>T p.R1193W missense 0.00010388●●●●●●
77. 38618141 c.3511+11G>A splice site 0.00010339●●●●●●
78. 38597928 c.4437+4C>T splice site 0.00010193●●●●●●
79. 38622493 c.3157G>A p.E1053K missense 0.00009987●●●●●●
80. 38598713 c.4299+9C>A splice site 0.00009974●●●●●●
81. 38592174 c.5689C>T p.R1897W missense 0.00009936●●●●●●
82. 38622603 c.3047C>T p.T1016M missense 0.00009559●●●●●●
83. 38648281 c.1019G>A p.R340Q missense 0.00009233●●●●●●
84. 38645517 c.1576C>T p.R526C missense 0.00009145●●●●●●
85. 38649710 c.935-5T>C splice site 0.00009110●●●●●●
86. 38622706 c.2944T>C p.C982R missense 0.00008792●●●●●●
87. 38592012 c.5851G>A p.V1951M missense 0.00008632●●●●●●
88. 38592212 c.5651C>T p.P1884L missense 0.00008280●●●●●●
89. 38601813 c.4070C>T p.A1357V missense 0.00008240●●●●●●
90. 38620841 c.3374C>G p.A1125G missense 0.00007867●●●●●●
91. 38646398 c.1340C>G p.A447G missense 0.00007533●●●●●●
92. 38622529 c.3121G>A p.D1041N missense 0.00007514●●●●●●
93. 38628962 c.2365G>A p.V789I missense 0.00007501●●●●●●
94. 38674713 c.86C>T p.A29V missense 0.00007486●●●●●●
95. 38592369 c.5494C>G p.Q1832E missense 0.00007452●●●●●●
96. 38601774 c.4109A>G p.D1370G missense 0.00007434●●●●●●
97. 38597155 c.4534C>T p.R1512W missense 0.00007427●●●●●●
98. 38591991 c.5872C>T p.R1958X nonsense 0.00007039●●●●●●
99. 38645516 c.1577G>A p.R526H missense 0.00006845●●●●●●
100. 38592068 c.5795C>T p.A1932V missense 0.00006666●●●●●●
101. 38618223 c.3440C>A p.T1147N missense 0.00006652●●●●●●
102. 38595797 c.4786T>A p.F1596I missense 0.00006651●●●●●●
103. 38608080 c.3667-7T>A splice site 0.00006628●●●●●●
104. 38639368 c.2114C>T p.S705F missense 0.00006624●●●●●●
105. 38592170 c.5693G>A p.R1898H missense 0.00006624●●●●●●
106. 38592986 c.4877G>A p.R1626H missense 0.00006597●●●●●●
107. 38622757 c.2893C>T p.R965C missense 0.00006504●●●●●●
108. 38622416 c.3228+6C>G splice site 0.00006435●●●●●●
109. 38645535 c.1558A>G p.M520V missense 0.00006381●●●●●●
110. 38645273 c.1820G>T p.G607V missense 0.00006371●●●●●●
111. 38598036 c.4333T>C p.Y1445H missense 0.00006331●●●●●●
112. 38620953 c.3262G>A p.A1088T missense 0.00006309●●●●●●
113. 38646354 c.1384G>A p.E462K missense 0.00006254●●●●●●
114. 38591990 c.5873G>A p.R1958Q missense 0.00006181●●●●●●
115. 38607892 c.3840+8_3840+9delTG splice site 0.00005809●●●●●●
116. 38645391 c.1702C>T p.R568C missense 0.00005806●●●●●●
117. 38592095 c.5768_5771dupATGC p.Ser1925CysfsTer20 frameshift 0.00005804●●●●●●
118. 38651420 c.739G>C p.V247L missense 0.00005799●●●●●●
119. 38671919 c.275C>T p.T92I missense 0.00005798●●●●●●
120. 38649685 c.955G>A p.G319S missense 0.00005797●●●●●●
121. 38595908 c.4675A>G p.I1559V missense 0.00005796●●●●●●
122. 38639341 c.2141T>C p.V714A missense 0.00005795●●●●●●
123. 38608000 c.3740C>T p.T1247I missense 0.00005771●●●●●●
124. 38616930 c.3524G>A p.R1175H missense 0.00005767●●●●●●
125. 38620916 c.3299C>T p.A1100V missense 0.00005657●●●●●●
126. 38645204 c.1889C>T p.T630M missense 0.00005657●●●●●●
127. 38618204 c.3459G>C p.Q1153H missense 0.00005455●●●●●●
128. 38663893 c.480C>T splice site 0.00005291●●●●●●
129. 38647447 c.1333C>G p.H445D missense 0.00005257●●●●●●
130. 38616784 c.3666+4C>G splice site 0.00005243●●●●●●
131. 38645317 c.1776C>G p.N592K missense 0.00005089●●●●●●
132. 38622570 c.3080G>A p.R1027Q missense 0.00005059●●●●●●
133. 38674776 c.23G>A p.R8Q missense 0.00005051●●●●●●
134. 38622556 c.3094G>A p.E1032K missense 0.00005033●●●●●●
135. 38622532 c.3118G>A p.G1040R missense 0.00005015●●●●●●
136. 38645430 c.1663G>A p.E555K missense 0.00004995●●●●●●
137. 38639411 c.2071G>A p.A691T missense 0.00004985●●●●●●
138. 38647498 c.1282G>A p.E428K missense 0.00004978●●●●●●
139. 38639405 c.2077C>T p.R693C missense 0.00004976●●●●●●
140. 38596016 c.4567G>A p.D1523N missense 0.00004975●●●●●●
141. 38647508 c.1272C>G p.I424M missense 0.00004973●●●●●●
142. 38601865 c.4018G>A p.V1340I missense 0.00004951●●●●●●
143. 38592626 c.5237C>T p.A1746V missense 0.00004950●●●●●●
144. 38601826 c.4057G>A p.V1353M missense 0.00004943●●●●●●
145. 38591828 c.6035G>A p.R2012H missense 0.00004612●●●●●●
146. 38620890 c.3325A>G p.S1109G missense 0.00004581●●●●●●
147. 38616870 c.3584G>A p.R1195H missense 0.00004519●●●●●●
148. 38618271 c.3392C>T p.T1131I missense 0.00004455●●●●●●
149. 38618259 c.3404G>T p.S1135I missense 0.00004450●●●●●●
150. 38645514 c.1579G>A p.G527R missense 0.00004435●●●●●●
151. 38645556 c.1537C>T p.R513C missense 0.00004433●●●●●●
152. 38640531 c.1901C>T p.S634L missense 0.00004418●●●●●●
153. 38662391 c.554C>T p.A185V missense 0.00004341●●●●●●
154. 38618196 c.3467A>G p.D1156G missense 0.00004324●●●●●●
155. 38662376 c.569G>T p.R190L missense 0.00004241●●●●●●
156. 38596047 c.4543-7C>T splice site 0.00004194●●●●●●
157. 38674755 c.44G>C p.R15T missense 0.00004187●●●●●●
158. 38640472 c.1960G>A p.E654K missense 0.00004178●●●●●●
159. 38645441 c.1652C>T p.A551V missense 0.00004171●●●●●●
160. 38640439 c.1993G>A p.A665T missense 0.00004162●●●●●●
161. 38592093 c.5770G>A p.A1924T missense 0.00004144●●●●●●
162. 38671826 c.368C>T p.A123V missense 0.00004141●●●●●●
163. 38592162 c.5701G>A p.E1901K missense 0.00004140●●●●●●
164. 38608022 c.3718G>C p.E1240Q missense 0.00004127●●●●●●
165. 38622688 c.2962C>T p.R988W missense 0.00003963●●●●●●
166. 38622687 c.2963G>A p.R988Q missense 0.00003947●●●●●●
167. 38616912 c.3542T>C p.V1181A missense 0.00003900●●●●●●
168. 38655282 c.655C>T p.R219C missense 0.00003863●●●●●●
169. 38645218 c.1875G>C p.E625D missense 0.00003739●●●●●●
170. 38620827 c.3388G>A p.E1130K missense 0.00003718●●●●●●
171. 38645238 c.1855C>T p.L619F missense 0.00003699●●●●●●
172. 38591817 c.6046G>A p.V2016M missense 0.00003697●●●●●●
173. 38591856 c.6007G>A p.D2003N missense 0.00003667●●●●●●
174. 38662325 c.611+9C>G splice site 0.00003621●●●●●●
175. 38591912 c.5951C>T p.T1984I missense 0.00003603●●●●●●
176. 38622618 c.3032C>T p.P1011L missense 0.00003570●●●●●●
177. 38651220 c.934+5G>A splice site 0.00003561●●●●●●
178. 38591972 c.5891C>T p.S1964F missense 0.00003525●●●●●●
179. 38646340 c.1398G>T p.L466F missense 0.00003481●●●●●●
180. 38592003 c.5860G>A p.E1954K missense 0.00003480●●●●●●
181. 38595773 c.4810G>A p.V1604M missense 0.00003419●●●●●●
182. 38601712 c.4171G>A p.G1391R missense 0.00003412●●●●●●
183. 38674671 c.128G>A p.R43Q missense 0.00003401●●●●●●
184. 38674590 c.209A>G p.N70S missense 0.00003383●●●●●●
185. 38640489 c.1943C>T p.P648L missense 0.00003367●●●●●●
186. 38618221 c.3442G>A p.A1148T missense 0.00003348●●●●●●
187. 38640457 c.1975C>T p.R659W missense 0.00003334●●●●●●
188. 38651267 c.892G>A p.G298S missense 0.00003326●●●●●●
189. 38651279 c.880G>A p.V294M missense 0.00003320●●●●●●
190. 38671911 c.283G>A p.V95I missense 0.00003313●●●●●●
191. 38595989 c.4594G>T p.V1532F missense 0.00003313●●●●●●
192. 38592386 c.5477G>A p.R1826H missense 0.00003312●●●●●●
193. 38592125 c.5738G>A p.R1913H missense 0.00003312●●●●●●
194. 38592648 c.5215C>T p.R1739W missense 0.00003306●●●●●●
195. 38592527 c.5336C>T p.T1779M missense 0.00003305●●●●●●
196. 38592566 c.5297T>C p.M1766T missense 0.00003299●●●●●●
197. 38607956 c.3784G>A p.G1262S missense 0.00003296●●●●●●
198. 38592835 c.5028G>A p.M1676I missense 0.00003295●●●●●●
199. 38616778 c.3666+10T>C splice site 0.00003204●●●●●●
200. 38616792 c.3662C>T p.A1221V missense 0.00003077●●●●●●
201. 38616934 c.3520C>T p.R1174W missense 0.00002983●●●●●●
202. 38616933 c.3521G>A p.R1174Q missense 0.00002954●●●●●●
203. 38655263 c.674G>A p.R225Q missense 0.00002900●●●●●●
204. 38645496 c.1597C>A p.R533S missense 0.00002846●●●●●●
205. 38622651 c.2999_3001delAGC p.Gln1000del inframe 0.00002806●●●●●●
206. 38645234 c.1859G>A p.R620H missense 0.00002784●●●●●●
207. 38598027 c.4342A>C p.I1448L missense 0.00002780●●●●●●
208. 38640549 c.1891-8G>A splice site 0.00002771●●●●●●
209. 38591835 c.6028A>G p.R2010G missense 0.00002763●●●●●●
210. 38591853 c.6010T>G p.F2004V missense 0.00002751●●●●●●
211. 38591892 c.5971C>T p.R1991W missense 0.00002724●●●●●●
212. 38662409 c.536G>A p.R179Q missense 0.00002722●●●●●●
213. 38663892 c.481G>A p.E161K missense 0.00002693●●●●●●
214. 38591925 c.5938G>T p.V1980F missense 0.00002687●●●●●●
215. 38674553 c.246C>A p.D82E missense 0.00002678●●●●●●
216. 38622619 c.3031C>T p.P1011S missense 0.00002676●●●●●●
217. 38591960 c.5903T>G p.I1968S missense 0.00002652●●●●●●
218. 38591959 c.5904C>G p.I1968M missense 0.00002650●●●●●●
219. 38603919 c.3950T>G p.F1317C missense 0.00002605●●●●●●
220. 38674657 c.142G>A p.E48K missense 0.00002557●●●●●●
221. 38622583 c.3067C>T p.R1023C missense 0.00002549●●●●●●
222. 38603922 c.3947G>A p.R1316Q missense 0.00002548●●●●●●
223. 38597928 c.4437+4C>G splice site 0.00002548●●●●●●
224. 38674589 c.210T>G p.N70K missense 0.00002538●●●●●●
225. 38674795 c.4G>A p.A2T missense 0.00002537●●●●●●
226. 38646313 c.1425A>C p.R475S missense 0.00002536●●●●●●
227. 38674593 c.206G>A p.G69D missense 0.00002533●●●●●●
228. 38674774 c.25G>A p.G9S missense 0.00002524●●●●●●
229. 38674698 c.101G>A p.R34H missense 0.00002519●●●●●●
230. 38655228 c.703+6A>G splice site 0.00002509●●●●●●
231. 38674746 c.53G>A p.R18Q missense 0.00002506●●●●●●
232. 38640451 c.1981C>T p.R661W missense 0.00002500●●●●●●
233. 38622517 c.3133G>A p.V1045M missense 0.00002500●●●●●●
234. 38640448 c.1984G>T p.A662S missense 0.00002499●●●●●●
235. 38674720 c.79C>T p.R27C missense 0.00002497●●●●●●
236. 38648264 c.1036G>A p.E346K missense 0.00002496●●●●●●
237. 38645343 c.1750G>C p.G584R missense 0.00002495●●●●●●
238. 38592077 c.5786G>A p.R1929H missense 0.00002492●●●●●●
239. 38607892 c.3840+8_3840+9dupTG splice site 0.00002490●●●●●●
240. 38651294 c.865G>A p.G289S missense 0.00002488●●●●●●
241. 38645390 c.1703G>A p.R568H missense 0.00002488●●●●●●
242. 38598779 c.4246-4C>T splice site 0.00002487●●●●●●
243. 38598739 c.4282G>T p.A1428S missense 0.00002486●●●●●●
244. 38595835 c.4748G>A p.R1583H missense 0.00002485●●●●●●
245. 38592108 c.5755C>T p.R1919C missense 0.00002485●●●●●●
246. 38592387 c.5476C>T p.R1826C missense 0.00002484●●●●●●
247. 38592162 c.5701G>C p.E1901Q missense 0.00002484●●●●●●
248. 38592171 c.5692C>T p.R1898C missense 0.00002484●●●●●●
249. 38592428 c.5435C>T p.S1812L missense 0.00002484●●●●●●
250. 38592195 c.5668G>A p.E1890K missense 0.00002484●●●●●●
251. 38592381 c.5482G>A p.A1828T missense 0.00002484●●●●●●
252. 38649709 c.935-4A>G splice site 0.00002484●●●●●●
253. 38592489 c.5374G>A p.D1792N missense 0.00002482●●●●●●
254. 38608052 c.3688G>A p.E1230K missense 0.00002482●●●●●●
255. 38607900 c.3840C>T splice site 0.00002481●●●●●●
256. 38592642 c.5221G>A p.D1741N missense 0.00002479●●●●●●
257. 38592534 c.5329G>A p.V1777M missense 0.00002478●●●●●●
258. 38597154 c.4535G>A p.R1512Q missense 0.00002477●●●●●●
259. 38597211 c.4478A>G p.K1493R missense 0.00002471●●●●●●
260. 38597188 c.4501C>G p.L1501V missense 0.00002471●●●●●●
261. 38592929 c.4934C>T p.T1645M missense 0.00002471●●●●●●
262. 38592885 c.4978A>G p.I1660V missense 0.00002471●●●●●●
263. 38592825 c.5038G>A p.A1680T missense 0.00002471●●●●●●
264. 38592951 c.4912C>T p.R1638X nonsense 0.00002471●●●●●●
265. 38592830 c.5033A>G p.N1678S missense 0.00002471●●●●●●
266. 38616898 c.3556G>A p.A1186T missense 0.00002453●●●●●●
267. 38616894 c.3560C>A p.P1187Q missense 0.00002420●●●●●●
268. 38662385 c.560C>G p.T187S missense 0.00002363●●●●●●
269. 38655234 c.703G>A p.G235R missense 0.00002301●●●●●●
270. 38663964 c.409A>G p.I137V missense 0.00002291●●●●●●
271. 38618272 c.3391A>T p.T1131S missense 0.00002228●●●●●●
272. 38618200 c.3463C>T p.P1155S missense 0.00002171●●●●●●
273. 38663919 c.454G>A p.D152N missense 0.00002166●●●●●●
274. 38645509 c.1584C>A p.S528R missense 0.00002158●●●●●●
275. 38646397 c.1341C>T splice site 0.00002128●●●●●●
276. 38646393 c.1345A>G p.T449A missense 0.00002085●●●●●●
277. 38616832 c.3622G>A p.E1208K missense 0.00002030●●●●●●
278. 38645505 c.1588T>G p.F530V missense 0.00002029●●●●●●
279. 38622693 c.2957G>A p.R986Q missense 0.00001975●●●●●●
280. 38645502 c.1591A>G p.T531A missense 0.00001965●●●●●●
281. 38620907 c.3308C>T p.S1103F missense 0.00001961●●●●●●
282. 38622673 c.2977G>A p.A993T missense 0.00001960●●●●●●
283. 38622727 c.2923C>T p.R975W missense 0.00001943●●●●●●
284. 38622667 c.2983C>T p.L995F missense 0.00001940●●●●●●
285. 38622660 c.2990C>A p.A997D missense 0.00001915●●●●●●
286. 38645498 c.1595T>G p.F532C missense 0.00001904●●●●●●
287. 38645196 c.1890+7C>T splice site 0.00001895●●●●●●
288. 38622745 c.2905G>T p.G969C missense 0.00001893●●●●●●
289. 38646372 c.1366G>A p.V456M missense 0.00001889●●●●●●
290. 38622756 c.2894G>A p.R965H missense 0.00001878●●●●●●
291. 38622646 c.3004C>T p.P1002S missense 0.00001863●●●●●●
292. 38591813 c.6050G>A nonsense 0.00001850●●●●●●
293. 38640549 c.1891-8G>C splice site 0.00001847●●●●●●
294. 38591829 c.6034C>T p.R2012C missense 0.00001844●●●●●●
295. 38591840 c.6023C>T p.P2008L missense 0.00001841●●●●●●
296. 38640546 c.1891-5C>T splice site 0.00001837●●●●●●
297. 38645489 c.1604G>A p.R535Q missense 0.00001834●●●●●●
298. 38591853 c.6010T>A p.F2004I missense 0.00001834●●●●●●
299. 38591865 c.5998G>T p.D2000Y missense 0.00001827●●●●●●
300. 38620930 c.3285G>T p.W1095C missense 0.00001821●●●●●●
301. 38628904 c.2423G>A p.R808H missense 0.00001777●●●●●●
302. 38591946 c.5917T>C p.F1973L missense 0.00001774●●●●●●
303. 38655249 c.688A>G p.I230V missense 0.00001763●●●●●●
304. 38627528 c.2441G>A p.R814Q missense 0.00001762●●●●●●
305. 38622816 c.2834A>G p.D945G missense 0.00001746●●●●●●
306. 38628913 c.2414C>T p.S805L missense 0.00001730●●●●●●
307. 38592018 c.5845G>A p.A1949T missense 0.00001716●●●●●●
308. 38645580 c.1519-6C>T splice site 0.00001709●●●●●●
309. 38628928 c.2399G>A p.R800H missense 0.00001700●●●●●●
310. 38622460 c.3190_3192delGAG p.Glu1064del inframe 0.00001699●●●●●●
311. 38593046 c.4817C>T p.T1606I missense 0.00001698●●●●●●
312. 38646317 c.1421G>A p.R474K missense 0.00001697●●●●●●
313. 38628929 c.2398C>T p.R800C missense 0.00001695●●●●●●
314. 38592032 c.5831G>A p.R1944Q missense 0.00001694●●●●●●
315. 38601898 c.3985G>A p.G1329S missense 0.00001693●●●●●●
316. 38639444 c.2038C>T p.R680C missense 0.00001693●●●●●●
317. 38646224 c.1514C>A p.A505E missense 0.00001689●●●●●●
318. 38640493 c.1939G>T p.A647S missense 0.00001686●●●●●●
319. 38674690 c.109A>G p.T37A missense 0.00001686●●●●●●
320. 38601722 c.4161G>C p.L1387F missense 0.00001684●●●●●●
321. 38593037 c.4826C>T p.S1609L missense 0.00001680●●●●●●
322. 38651246 c.913G>A p.D305N missense 0.00001678●●●●●●
323. 38674756 c.43A>G p.R15G missense 0.00001675●●●●●●
324. 38592060 c.5803G>A p.G1935S missense 0.00001673●●●●●●
325. 38647483 c.1297C>T p.R433C missense 0.00001668●●●●●●
326. 38645439 c.1654G>C p.G552R missense 0.00001667●●●●●●
327. 38595794 c.4789G>A p.V1597M missense 0.00001667●●●●●●
328. 38645439 c.1654G>T p.G552W missense 0.00001667●●●●●●
329. 38640439 c.1993G>T p.A665S missense 0.00001665●●●●●●
330. 38640430 c.2002G>A p.V668I missense 0.00001665●●●●●●
331. 38651262 c.897G>C p.L299F missense 0.00001665●●●●●●
332. 38674719 c.80G>T p.R27L missense 0.00001665●●●●●●
333. 38639417 c.2065C>T p.R689C missense 0.00001664●●●●●●
334. 38674717 c.82A>T p.M28L missense 0.00001664●●●●●●
335. 38639246 c.2236G>A p.E746K missense 0.00001661●●●●●●
336. 38648255 c.1045G>A p.D349N missense 0.00001661●●●●●●
337. 38592078 c.5785C>T p.R1929C missense 0.00001661●●●●●●
338. 38645351 c.1742C>T p.S581L missense 0.00001661●●●●●●
339. 38645424 c.1669C>T p.H557Y missense 0.00001661●●●●●●
340. 38651285 c.874G>A p.G292S missense 0.00001659●●●●●●
341. 38622467 c.3183A>C p.E1061D missense 0.00001659●●●●●●
342. 38645387 c.1706G>A p.R569Q missense 0.00001659●●●●●●
343. 38645381 c.1712G>T p.S571I missense 0.00001658●●●●●●
344. 38629013 c.2314G>A p.D772N missense 0.00001658●●●●●●
345. 38639404 c.2078G>A p.R693H missense 0.00001658●●●●●●
346. 38629040 c.2287G>A p.E763K missense 0.00001658●●●●●●
347. 38651314 c.845G>A p.R282H missense 0.00001657●●●●●●
348. 38647543 c.1237G>A p.A413T missense 0.00001657●●●●●●
349. 38651372 c.787G>A p.V263I missense 0.00001657●●●●●●
350. 38671925 c.274-5C>G splice site 0.00001657●●●●●●
351. 38649681 c.959C>A p.T320N missense 0.00001656●●●●●●
352. 38671914 c.280A>G p.I94V missense 0.00001656●●●●●●
353. 38671839 c.355C>T p.P119S missense 0.00001656●●●●●●
354. 38671866 c.328G>A p.A110T missense 0.00001656●●●●●●
355. 38592146 c.5717T>C p.M1906T missense 0.00001656●●●●●●
356. 38592173 c.5690G>A p.R1897Q missense 0.00001656●●●●●●
357. 38592176 c.5687T>C p.L1896P missense 0.00001656●●●●●●
358. 38592405 c.5458G>A p.A1820T missense 0.00001656●●●●●●
359. 38639283 c.2199C>G p.F733L missense 0.00001656●●●●●●
360. 38592176 c.5687_5688delTC p.Leu1896ProfsTer47 frameshift 0.00001656●●●●●●
361. 38608045 c.3695G>A p.R1232Q missense 0.00001654●●●●●●
362. 38592495 c.5368G>A p.D1790N missense 0.00001654●●●●●●
363. 38592653 c.5210G>A p.G1737D missense 0.00001653●●●●●●
364. 38592674 c.5189C>T p.P1730L missense 0.00001652●●●●●●
365. 38627355 c.2614G>A p.D872N missense 0.00001651●●●●●●
366. 38592624 c.5239G>A p.V1747M missense 0.00001650●●●●●●
367. 38627372 c.2597C>T p.S866L missense 0.00001650●●●●●●
368. 38592950 c.4913G>A p.R1638Q missense 0.00001647●●●●●●
369. 38655257 c.680T>C p.L227P missense 0.00001571●●●●●●
370. 38603905 c.3963+1G>A essential splice site 0.00001557●●●●●●
371. 38620869 c.3346C>T p.R1116W missense 0.00001554●●●●●●
372. 38616936 c.3518T>A p.V1173D missense 0.00001495●●●●●●
373. 38645558 c.1535C>T p.T512I missense 0.00001490●●●●●●
374. 38603909 c.3960G>A p.M1320I missense 0.00001481●●●●●●
375. 38620872 c.3343T>C p.W1115R missense 0.00001456●●●●●●
376. 38655327 c.612-2A>G essential splice site 0.00001451●●●●●●
377. 38655264 c.673C>T p.R225W missense 0.00001425●●●●●●
378. 38603913 c.3956G>T p.G1319V missense 0.00001415●●●●●●
379. 38620875 c.3340G>A p.D1114N missense 0.00001402●●●●●●
380. 38662377 c.568C>T p.R190W missense 0.00001365●●●●●●
381. 38620877 c.3338C>T p.A1113V missense 0.00001343●●●●●●
382. 38645542 c.1551G>C p.R517S missense 0.00001341●●●●●●
383. 38663985 c.393-5C>T splice site 0.00001297●●●●●●
384. 38603922 c.3947G>T p.R1316L missense 0.00001274●●●●●●
385. 38663981 c.393-1C>T essential splice site 0.00001262●●●●●●
386. 38663897 c.476A>G p.Y159C missense 0.00001260●●●●●●
387. 38663980 c.393G>A splice site 0.00001251●●●●●●
388. 38601634 c.4245+4A>G splice site 0.00001219●●●●●●
389. 38645525 c.1568G>A p.R523H missense 0.00001208●●●●●●
390. 38645523 c.1570_1571insTCTGCCCAGTTCTAGTCTGAAAACAAAGCACAGGGTTGGGCACACTGTGGGTGCCTAATCAACAAGG p.Ser524PhefsTer7 frameshift 0.00001184●●●●●●
391. 38663970 c.403A>G p.M135V missense 0.00001169●●●●●●
392. 38663959 c.414G>A p.M138I missense 0.00001130●●●●●●
393. 38618251 c.3412G>A p.E1138K missense 0.00001118●●●●●●
394. 38618221 c.3442G>T p.A1148S missense 0.00001116●●●●●●
395. 38618270 c.3393C>T p.T1131T splice site 0.00001114●●●●●●
396. 38618263 c.3400G>A p.D1134N missense 0.00001114●●●●●●
397. 38618269 c.3394C>T p.P1132S missense 0.00001114●●●●●●
398. 38618223 c.3440C>T p.T1147I missense 0.00001109●●●●●●
399. 38622872 c.2788-10A>T splice site 0.00001104●●●●●●
400. 38648152 c.1140+8T>C splice site 0.00001091●●●●●●
401. 38663946 c.427A>G p.T143A missense 0.00001077●●●●●●
402. 38622867 c.2788-5G>A splice site 0.00001059●●●●●●
403. 38618170 c.3493G>C p.E1165Q missense 0.00001053●●●●●●
404. 38616851 c.3603C>G p.I1201M missense 0.00001050●●●●●●
405. 38603943 c.3926G>A p.R1309H missense 0.00001048●●●●●●
406. 38618157 c.3506C>T p.T1169I missense 0.00001038●●●●●●
407. 38620901 c.3314A>T p.E1105V missense 0.00001022●●●●●●
408. 38645504 c.1589T>C p.F530S missense 0.00001000●●●●●●
409. 38616811 c.3643A>G p.I1215V missense 0.00000993●●●●●●
410. 38622684 c.2966C>T p.P989L missense 0.00000983●●●●●●
411. 38622679 c.2971A>G p.K991E missense 0.00000981●●●●●●
412. 38603952 c.3917G>A p.R1306H missense 0.00000980●●●●●●
413. 38622715 c.2935G>C p.D979H missense 0.00000976●●●●●●
414. 38645501 c.1592C>T p.T531I missense 0.00000973●●●●●●
415. 38622726 c.2924G>A p.R975Q missense 0.00000970●●●●●●
416. 38628885 c.2436+6T>C splice site 0.00000969●●●●●●
417. 38628886 c.2436+5C>A splice site 0.00000965●●●●●●
418. 38622738 c.2912G>A p.R971H missense 0.00000960●●●●●●
419. 38645499 c.1594T>C p.F532L missense 0.00000960●●●●●●
420. 38622739 c.2911C>T p.R971C missense 0.00000959●●●●●●
421. 38645496 c.1597C>T p.R533C missense 0.00000949●●●●●●
422. 38622651 c.2999A>T p.Q1000L missense 0.00000942●●●●●●
423. 38645213 c.1880C>T p.P627L missense 0.00000938●●●●●●
424. 38620917 c.3298G>A p.A1100T missense 0.00000937●●●●●●
425. 38645225 c.1868T>C p.M623T missense 0.00000931●●●●●●
426. 38620986 c.3229C>A p.Q1077K missense 0.00000929●●●●●●
427. 38622757 c.2893C>G p.R965G missense 0.00000929●●●●●●
428. 38645235 c.1858C>T p.R620C missense 0.00000927●●●●●●
429. 38620980 c.3235T>A p.S1079T missense 0.00000927●●●●●●
430. 38628895 c.2432G>A p.R811H missense 0.00000927●●●●●●
431. 38622414 c.3228+8C>T splice site 0.00000922●●●●●●
432. 38591836 c.6027C>G p.D2009E missense 0.00000921●●●●●●
433. 38645246 c.1847G>A p.S616N missense 0.00000921●●●●●●
434. 38591849 c.6014C>T p.P2005L missense 0.00000918●●●●●●
435. 38591850 c.6013C>T p.P2005S missense 0.00000918●●●●●●
436. 38591851 c.6012C>G p.F2004L missense 0.00000918●●●●●●
437. 38591859 c.6004G>T p.A2002S missense 0.00000916●●●●●●
438. 38645265 c.1828G>A p.E610K missense 0.00000915●●●●●●
439. 38620970 c.3245T>C p.V1082A missense 0.00000914●●●●●●
440. 38645271 c.1822G>C p.D608H missense 0.00000913●●●●●●
441. 38645271 c.1822G>A p.D608N missense 0.00000913●●●●●●
442. 38591873 c.5990A>G p.H1997R missense 0.00000912●●●●●●
443. 38622636 c.3014T>C p.I1005T missense 0.00000911●●●●●●
444. 38622766 c.2884G>A p.A962T missense 0.00000911●●●●●●
445. 38620967 c.3248C>G p.S1083C missense 0.00000910●●●●●●
446. 38645273 c.1820G>A p.G607D missense 0.00000910●●●●●●
447. 38591888 c.5975G>C p.G1992A missense 0.00000909●●●●●●
448. 38591895 c.5968G>C p.V1990L missense 0.00000907●●●●●●
449. 38591895 c.5968G>A p.V1990M missense 0.00000907●●●●●●
450. 38591902 c.5961C>A p.N1987K missense 0.00000905●●●●●●
451. 38591907 c.5956G>A p.D1986N missense 0.00000904●●●●●●
452. 38674537 c.262A>G p.S88G missense 0.00000904●●●●●●
453. 38620943 c.3272A>C p.D1091A missense 0.00000903●●●●●●
454. 38640537 c.1895C>T p.T632M missense 0.00000902●●●●●●
455. 38620952 c.3263C>T p.A1088V missense 0.00000902●●●●●●
456. 38622630 c.3020C>T p.T1007I missense 0.00000902●●●●●●
457. 38674543 c.256T>C p.F86L missense 0.00000901●●●●●●
458. 38674546 c.253C>A p.P85T missense 0.00000900●●●●●●
459. 38674546 c.253C>T p.P85S missense 0.00000900●●●●●●
460. 38591915 c.5948C>T p.A1983V missense 0.00000899●●●●●●
461. 38622627 c.3023C>T p.P1008L missense 0.00000899●●●●●●
462. 38591918 c.5945G>C p.R1982T missense 0.00000898●●●●●●
463. 38674553 c.246C>G p.D82E missense 0.00000893●●●●●●
464. 38598044 c.4325A>G p.Y1442C missense 0.00000891●●●●●●
465. 38598070 c.4300-1G>T essential splice site 0.00000891●●●●●●
466. 38598045 c.4324T>A p.Y1442N missense 0.00000890●●●●●●
467. 38622436 c.3214_3216delGAG p.Glu1072del inframe 0.00000888●●●●●●
468. 38598052 c.4317G>C p.Q1439H missense 0.00000887●●●●●●
469. 38591961 c.5902A>G p.I1968V missense 0.00000885●●●●●●
470. 38646350 c.1388T>C p.M463T missense 0.00000885●●●●●●
471. 38646350 c.1388T>G p.M463R missense 0.00000885●●●●●●
472. 38628905 c.2422C>T p.R808C missense 0.00000884●●●●●●
473. 38591957 c.5906C>T p.S1969F missense 0.00000884●●●●●●
474. 38591960 c.5903T>A p.I1968N missense 0.00000884●●●●●●
475. 38640531 c.1901C>G p.S634W missense 0.00000884●●●●●●
476. 38591970 c.5893A>G p.S1965G missense 0.00000883●●●●●●
477. 38591975 c.5888C>T p.P1963L missense 0.00000882●●●●●●
478. 38645298 c.1795G>A p.G599R missense 0.00000880●●●●●●
479. 38645480 c.1613G>A p.G538D missense 0.00000880●●●●●●
480. 38647445 c.1335C>A p.H445Q missense 0.00000879●●●●●●
481. 38674563 c.236C>A p.P79H missense 0.00000879●●●●●●
482. 38674564 c.235C>T p.P79S missense 0.00000878●●●●●●
483. 38674564 c.235C>G p.P79A missense 0.00000878●●●●●●
484. 38640526 c.1906G>A p.E636K missense 0.00000876●●●●●●
485. 38591994 c.5869T>C p.S1957P missense 0.00000875●●●●●●
486. 38622607 c.3043G>A p.E1015K missense 0.00000874●●●●●●
487. 38622791 c.2859C>G p.D953E missense 0.00000874●●●●●●
488. 38622793 c.2857G>T p.D953Y missense 0.00000872●●●●●●
489. 38592004 c.5859_5862delTGAG p.Ser1953ArgfsTer84 frameshift 0.00000872●●●●●●
490. 38622796 c.2854G>A p.E952K missense 0.00000871●●●●●●
491. 38603982 c.3887T>C p.M1296T missense 0.00000870●●●●●●
492. 38628911 c.2416G>A p.V806M missense 0.00000870●●●●●●
493. 38595762 c.4813+8T>C splice site 0.00000870●●●●●●
494. 38595763 c.4813+7A>G splice site 0.00000869●●●●●●
495. 38646335 c.1403C>T p.P468L missense 0.00000867●●●●●●
496. 38622447 c.3203G>A p.G1068D missense 0.00000865●●●●●●
497. 38622447 c.3203G>C p.G1068A missense 0.00000865●●●●●●
498. 38603988 c.3881C>G p.A1294G missense 0.00000864●●●●●●
499. 38622598 c.3052A>G p.K1018E missense 0.00000863●●●●●●
500. 38595769 c.4813+1G>A essential splice site 0.00000862●●●●●●
501. 38647459 c.1321C>T p.L441F missense 0.00000862●●●●●●
502. 38662425 c.520G>A p.V174I missense 0.00000860●●●●●●
503. 38639464 c.2024-6C>T splice site 0.00000860●●●●●●
504. 38639463 c.2024-5C>T splice site 0.00000859●●●●●●
505. 38627188 c.2781C>G p.N927K missense 0.00000857●●●●●●
506. 38640514 c.1918C>T p.P640S missense 0.00000857●●●●●●
507. 38593054 c.4814-5C>T splice site 0.00000855●●●●●●
508. 38592021 c.5842A>G p.I1948V missense 0.00000853●●●●●●
509. 38622454 c.3196A>G p.S1066G missense 0.00000853●●●●●●
510. 38593049 c.4814G>A p.G1605D missense 0.00000851●●●●●●
511. 38639452 c.2030A>T p.E677V missense 0.00000851●●●●●●
512. 38674654 c.145G>A p.E49K missense 0.00000851●●●●●●
513. 38674641 c.158G>A p.R53Q missense 0.00000850●●●●●●
514. 38628928 c.2399G>T p.R800L missense 0.00000850●●●●●●
515. 38662437 c.508T>A p.F170I missense 0.00000849●●●●●●
516. 38622582 c.3068G>C p.R1023P missense 0.00000849●●●●●●
517. 38646220 c.1518G>A p.M506I missense 0.00000849●●●●●●
518. 38674644 c.155C>A p.P52H missense 0.00000849●●●●●●
519. 38674647 c.152C>T p.A51V missense 0.00000849●●●●●●
520. 38647470 c.1310C>T p.A437V missense 0.00000848●●●●●●
521. 38646221 c.1517T>A p.M506K missense 0.00000847●●●●●●
522. 38622462 c.3188A>G p.E1063G missense 0.00000846●●●●●●
523. 38646314 c.1424G>A p.R475K missense 0.00000846●●●●●●
524. 38662460 c.485A>G p.Y162C missense 0.00000846●●●●●●
525. 38662461 c.484T>C p.Y162H missense 0.00000846●●●●●●
526. 38674791 c.8A>G p.N3S missense 0.00000845●●●●●●
527. 38674790 c.9C>G p.N3K missense 0.00000844●●●●●●
528. 38592039 c.5824C>T p.P1942S missense 0.00000843●●●●●●
529. 38622466 c.3184G>C p.D1062H missense 0.00000843●●●●●●
530. 38674779 c.20C>G p.P7R missense 0.00000843●●●●●●
531. 38640492 c.1940C>T p.A647V missense 0.00000842●●●●●●
532. 38674614 c.185A>C p.K62T missense 0.00000842●●●●●●
533. 38674776 c.23G>C p.R8P missense 0.00000842●●●●●●
534. 38646227 c.1511G>C p.R504T missense 0.00000842●●●●●●
535. 38648201 c.1099C>T p.R367C missense 0.00000841●●●●●●
536. 38674605 c.194C>T p.P65L missense 0.00000841●●●●●●
537. 38651243 c.916C>G p.L306V missense 0.00000841●●●●●●
538. 38651243 c.916C>T p.L306F missense 0.00000841●●●●●●
539. 38674770 c.29C>G p.T10S missense 0.00000841●●●●●●
540. 38592051 c.5812G>A p.E1938K missense 0.00000840●●●●●●
541. 38592051 c.5812G>T p.E1938X nonsense 0.00000840●●●●●●
542. 38640487 c.1945T>C p.C649R missense 0.00000840●●●●●●
543. 38648282 c.1018C>T p.R340W missense 0.00000839●●●●●●
544. 38622554 c.3096G>T p.E1032D missense 0.00000839●●●●●●
545. 38596049 c.4543-9_4543-8delTC splice site 0.00000839●●●●●●
546. 38592054 c.5809T>G p.S1937A missense 0.00000838●●●●●●
547. 38593034 c.4829A>G p.D1610G missense 0.00000838●●●●●●
548. 38646298 c.1440A>C p.K480N missense 0.00000838●●●●●●
549. 38674759 c.40C>A p.R14S missense 0.00000838●●●●●●
550. 38646296 c.1442G>A p.R481Q missense 0.00000837●●●●●●
551. 38639231 c.2251G>A p.V751I missense 0.00000837●●●●●●
552. 38639231 c.2251G>T p.V751F missense 0.00000837●●●●●●
553. 38674751 c.48C>G p.F16L missense 0.00000837●●●●●●
554. 38622540 c.3110G>T p.G1037V missense 0.00000836●●●●●●
555. 38596039 c.4544A>G p.N1515S missense 0.00000836●●●●●●
556. 38595790 c.4793T>C p.V1598A missense 0.00000836●●●●●●
557. 38622532 c.3118G>C p.G1040R missense 0.00000836●●●●●●
558. 38622541 c.3109G>A p.G1037S missense 0.00000836●●●●●●
559. 38640477 c.1955G>A p.G652D missense 0.00000836●●●●●●
560. 38645331 c.1762C>A p.H588N missense 0.00000836●●●●●●
561. 38674740 c.59C>T p.S20F missense 0.00000835●●●●●●
562. 38622528 c.3122A>G p.D1041G missense 0.00000835●●●●●●
563. 38645336 c.1757C>G p.A586G missense 0.00000835●●●●●●
564. 38601883 c.4000A>G p.I1334V missense 0.00000834●●●●●●
565. 38640456 c.1976G>A p.R659Q missense 0.00000834●●●●●●
566. 38592065 c.5798G>A p.G1933D missense 0.00000834●●●●●●
567. 38592065 c.5798G>C p.G1933A missense 0.00000834●●●●●●
568. 38592065 c.5798G>T p.G1933V missense 0.00000834●●●●●●
569. 38640459 c.1973C>T p.A658V missense 0.00000834●●●●●●
570. 38647483 c.1297C>A p.R433S missense 0.00000834●●●●●●
571. 38651261 c.898G>A p.V300I missense 0.00000833●●●●●●
572. 38674725 c.74A>G p.E25G missense 0.00000833●●●●●●
573. 38628961 c.2366T>C p.V789A missense 0.00000833●●●●●●
574. 38646282 c.1456A>G p.T486A missense 0.00000833●●●●●●
575. 38674726 c.73G>A p.E25K missense 0.00000833●●●●●●
576. 38674732 c.67G>T p.A23S missense 0.00000833●●●●●●
577. 38674734 c.65C>T p.A22V missense 0.00000833●●●●●●
578. 38595796 c.4787T>G p.F1596C missense 0.00000832●●●●●●
579. 38622498 c.3152T>C p.V1051A missense 0.00000832●●●●●●
580. 38639242 c.2240A>C p.E747A missense 0.00000832●●●●●●
581. 38640421 c.2011A>T p.S671C missense 0.00000832●●●●●●
582. 38646269 c.1469G>A p.G490E missense 0.00000832●●●●●●
583. 38647627 c.1153G>A p.A385T missense 0.00000832●●●●●●
584. 38647630 c.1150T>A p.S384T missense 0.00000832●●●●●●
585. 38648263 c.1037A>G p.E346G missense 0.00000832●●●●●●
586. 38651266 c.893G>A p.G298D missense 0.00000832●●●●●●
587. 38674716 c.83T>C p.M28T missense 0.00000832●●●●●●
588. 38647495 c.1285_1287delGAG p.Glu429del inframe 0.00000831●●●●●●
589. 38601751 c.4132G>A p.V1378M missense 0.00000831●●●●●●
590. 38648258 c.1042C>G p.P348A missense 0.00000831●●●●●●
591. 38628977 c.2350T>C p.F784L missense 0.00000831●●●●●●
592. 38639411 c.2071G>T p.A691S missense 0.00000831●●●●●●
593. 38647617 c.1163T>G p.I388S missense 0.00000831●●●●●●
594. 38648230 c.1070_1074dupCCTTT p.Ala359ProfsTer12 frameshift 0.00000831●●●●●●
595. 38598714 c.4299+8G>A splice site 0.00000831●●●●●●
596. 38645417 c.1676C>T p.T559I missense 0.00000830●●●●●●
597. 38648249 c.1051G>A p.G351S missense 0.00000830●●●●●●
598. 38601752 c.4131C>G p.I1377M missense 0.00000830●●●●●●
599. 38629052 c.2275A>G p.I759V missense 0.00000830●●●●●●
600. 38645417 c.1676C>G p.T559R missense 0.00000830●●●●●●
601. 38651276 c.883G>A p.E295K missense 0.00000830●●●●●●
602. 38651291 c.868_876delACCAACGGC p.Thr290_Gly292del inframe 0.00000830●●●●●●
603. 38629062 c.2265C>G splice site 0.00000830●●●●●●
604. 38629062 c.2265C>A splice site 0.00000830●●●●●●
605. 38645393 c.1700T>A p.L567Q missense 0.00000829●●●●●●
606. 38645388 c.1705C>T p.R569W missense 0.00000829●●●●●●
607. 38645376 c.1717C>G p.Q573E missense 0.00000829●●●●●●
608. 38596010 c.4573G>A p.V1525M missense 0.00000829●●●●●●
609. 38651318 c.841G>A p.V281M missense 0.00000829●●●●●●
610. 38592096 c.5767C>T p.H1923Y missense 0.00000829●●●●●●
611. 38629038 c.2289G>C p.E763D missense 0.00000829●●●●●●
612. 38639258 c.2224A>G p.T742A missense 0.00000829●●●●●●
613. 38645384 c.1709C>A p.T570N missense 0.00000829●●●●●●
614. 38647507 c.1273G>C p.A425P missense 0.00000829●●●●●●
615. 38647574 c.1206C>G p.F402L missense 0.00000829●●●●●●
616. 38651296 c.863A>G p.N288S missense 0.00000829●●●●●●
617. 38651302 c.857C>T p.A286V missense 0.00000829●●●●●●
618. 38651305 c.854C>A p.T285K missense 0.00000829●●●●●●
619. 38629048 c.2279delT p.Phe760SerfsTer5 frameshift 0.00000829●●●●●●
620. 38607893 c.3840+7G>T splice site 0.00000829●●●●●●
621. 38671925 c.274-5C>T splice site 0.00000829●●●●●●
622. 38671884 c.310C>T p.R104W missense 0.00000828●●●●●●
623. 38671867 c.327C>A p.N109K missense 0.00000828●●●●●●
624. 38671820 c.374T>G p.V125G missense 0.00000828●●●●●●
625. 38651426 c.733C>A p.Q245K missense 0.00000828●●●●●●
626. 38639332 c.2150C>T p.P717L missense 0.00000828●●●●●●
627. 38639278 c.2204C>T p.A735V missense 0.00000828●●●●●●
628. 38608058 c.3682T>C p.Y1228H missense 0.00000828●●●●●●
629. 38592107 c.5756G>A p.R1919H missense 0.00000828●●●●●●
630. 38592339 c.5524A>T p.M1842L missense 0.00000828●●●●●●
631. 38592474 c.5389A>G p.I1797V missense 0.00000828●●●●●●
632. 38647533 c.1247A>G p.Y416C missense 0.00000828●●●●●●
633. 38592246 c.5617A>G p.I1873V missense 0.00000828●●●●●●
634. 38647537 c.1243G>A p.A415T missense 0.00000828●●●●●●
635. 38592104 c.5759C>G p.S1920C missense 0.00000828●●●●●●
636. 38592113 c.5750T>C p.L1917P missense 0.00000828●●●●●●
637. 38592120 c.5743C>T p.H1915Y missense 0.00000828●●●●●●
638. 38592120 c.5743C>A p.H1915N missense 0.00000828●●●●●●
639. 38592123 c.5740A>G p.R1914G missense 0.00000828●●●●●●
640. 38592141 c.5722A>G p.I1908V missense 0.00000828●●●●●●
641. 38592179 c.5684C>T p.T1895I missense 0.00000828●●●●●●
642. 38592239 c.5624T>A p.M1875K missense 0.00000828●●●●●●
643. 38592308 c.5555A>T p.D1852V missense 0.00000828●●●●●●
644. 38592324 c.5539C>T p.R1847C missense 0.00000828●●●●●●
645. 38592338 c.5525T>C p.M1842T missense 0.00000828●●●●●●
646. 38592339 c.5524A>G p.M1842V missense 0.00000828●●●●●●
647. 38592396 c.5467G>A p.E1823K missense 0.00000828●●●●●●
648. 38592415 c.5448C>G p.D1816E missense 0.00000828●●●●●●
649. 38592436 c.5427T>G p.I1809M missense 0.00000828●●●●●●
650. 38595829 c.4754A>G p.Y1585C missense 0.00000828●●●●●●
651. 38595884 c.4699T>C p.F1567L missense 0.00000828●●●●●●
652. 38595914 c.4669A>G p.I1557V missense 0.00000828●●●●●●
653. 38595920 c.4663G>A p.E1555K missense 0.00000828●●●●●●
654. 38595932 c.4651G>A p.D1551N missense 0.00000828●●●●●●
655. 38595956 c.4627G>C p.V1543L missense 0.00000828●●●●●●
656. 38595967 c.4616G>A p.C1539Y missense 0.00000828●●●●●●
657. 38595997 c.4586C>T p.A1529V missense 0.00000828●●●●●●
658. 38598751 c.4270A>G p.I1424V missense 0.00000828●●●●●●
659. 38598754 c.4267G>C p.D1423H missense 0.00000828●●●●●●
660. 38601760 c.4123T>C p.Y1375H missense 0.00000828●●●●●●
661. 38608057 c.3683A>G p.Y1228C missense 0.00000828●●●●●●
662. 38639292 c.2190C>A p.N730K missense 0.00000828●●●●●●
663. 38639311 c.2171C>T p.T724I missense 0.00000828●●●●●●
664. 38639328 c.2154T>G p.F718L missense 0.00000828●●●●●●
665. 38647551 c.1229C>T p.A410V missense 0.00000828●●●●●●
666. 38647570 c.1210C>G p.L404V missense 0.00000828●●●●●●
667. 38649646 c.994G>A p.A332T missense 0.00000828●●●●●●
668. 38649651 c.989C>T p.S330F missense 0.00000828●●●●●●
669. 38649691 c.949A>G p.K317E missense 0.00000828●●●●●●
670. 38651357 c.802G>A p.G268S missense 0.00000828●●●●●●
671. 38651362 c.797T>A p.L266H missense 0.00000828●●●●●●
672. 38651365 c.794C>T p.A265V missense 0.00000828●●●●●●
673. 38651375 c.784A>G p.S262G missense 0.00000828●●●●●●
674. 38671838 c.356C>T p.P119L missense 0.00000828●●●●●●
675. 38671859 c.335A>G p.Y112C missense 0.00000828●●●●●●
676. 38671877 c.317G>C p.S106T missense 0.00000828●●●●●●
677. 38671892 c.302C>T p.T101I missense 0.00000828●●●●●●
678. 38671911 c.283G>C p.V95L missense 0.00000828●●●●●●
679. 38608077 c.3667-4G>A splice site 0.00000828●●●●●●
680. 38649638 c.998+4T>C splice site 0.00000828●●●●●●
681. 38649708 c.935-3C>T splice site 0.00000828●●●●●●
682. 38593013 c.4850_4852delTCT inframe 0.00000827●●●●●●
683. 38592488 c.5375A>T p.D1792V missense 0.00000827●●●●●●
684. 38593007 c.4856C>A p.P1619Q missense 0.00000827●●●●●●
685. 38597147 c.4542G>C splice site 0.00000827●●●●●●
686. 38627292 c.2677C>T p.R893C missense 0.00000826●●●●●●
687. 38601871 c.4012C>G p.L1338V missense 0.00000826●●●●●●
688. 38593004 c.4859C>T p.T1620M missense 0.00000826●●●●●●
689. 38592647 c.5216G>A p.R1739Q missense 0.00000826●●●●●●
690. 38592651 c.5212T>A p.S1738T missense 0.00000826●●●●●●
691. 38592675 c.5188C>G p.P1730A missense 0.00000826●●●●●●
692. 38592678 c.5185G>A p.D1729N missense 0.00000826●●●●●●
693. 38597154 c.4535G>T p.R1512L missense 0.00000826●●●●●●
694. 38627286 c.2683C>T p.L895F missense 0.00000826●●●●●●
695. 38627287 c.2682C>G p.I894M missense 0.00000826●●●●●●
696. 38627297 c.2672T>C p.I891T missense 0.00000826●●●●●●
697. 38627297 c.2672T>A p.I891N missense 0.00000826●●●●●●
698. 38627262 c.2707delA p.Met903CysfsTer29 frameshift 0.00000826●●●●●●
699. 38627416 c.2553C>A p.F851L missense 0.00000825●●●●●●
700. 38601785 c.4098G>T p.Q1366H missense 0.00000825●●●●●●
701. 38592551 c.5312T>C p.I1771T missense 0.00000825●●●●●●
702. 38592709 c.5154C>A p.S1718R missense 0.00000825●●●●●●
703. 38601786 c.4097A>G p.Q1366R missense 0.00000825●●●●●●
704. 38608005 c.3735G>A p.M1245I missense 0.00000825●●●●●●
705. 38627348 c.2621G>A p.G874D missense 0.00000825●●●●●●
706. 38627352 c.2617T>G p.S873A missense 0.00000825●●●●●●
707. 38627362 c.2607G>C p.R869S missense 0.00000825●●●●●●
708. 38627373 c.2596T>C p.S866P missense 0.00000825●●●●●●
709. 38627397 c.2572A>T p.M858L missense 0.00000825●●●●●●
710. 38627399 c.2570G>A p.G857D missense 0.00000825●●●●●●
711. 38627446 c.2523C>A p.N841K missense 0.00000825●●●●●●
712. 38627463 c.2506G>A p.V836M missense 0.00000825●●●●●●
713. 38592968 c.4895G>A p.R1632H missense 0.00000824●●●●●●
714. 38592771 c.5092G>A p.A1698T missense 0.00000824●●●●●●
715. 38592737 c.5126C>T p.T1709M missense 0.00000824●●●●●●
716. 38592734 c.5129C>T p.S1710L missense 0.00000824●●●●●●
717. 38592978 c.4885C>T p.R1629X nonsense 0.00000824●●●●●●
718. 38607934 c.3806A>G p.N1269S missense 0.00000824●●●●●●
719. 38592947 c.4916G>C p.G1639A missense 0.00000824●●●●●●
720. 38592587 c.5276C>G p.S1759C missense 0.00000824●●●●●●
721. 38592760 c.5103G>T p.M1701I missense 0.00000824●●●●●●
722. 38592798 c.5065G>A p.D1689N missense 0.00000824●●●●●●
723. 38592821 c.5042A>T p.Y1681F missense 0.00000824●●●●●●
724. 38592836 c.5027T>C p.M1676T missense 0.00000824●●●●●●
725. 38592860 c.5003T>C p.M1668T missense 0.00000824●●●●●●
726. 38592932 c.4931G>T p.R1644L missense 0.00000824●●●●●●
727. 38597164 c.4525C>A p.P1509T missense 0.00000824●●●●●●
728. 38597172 c.4517C>T p.P1506L missense 0.00000824●●●●●●
729. 38597240 c.4449G>C p.Q1483H missense 0.00000824●●●●●●
730. 38601797 c.4086G>T p.R1362S missense 0.00000824●●●●●●
731. 38601807 c.4076A>T p.K1359M missense 0.00000824●●●●●●
732. 38601835 c.4048A>C p.I1350L missense 0.00000824●●●●●●
733. 38607921 c.3819G>T p.W1273C missense 0.00000824●●●●●●
734. 38607948 c.3792G>C p.K1264N missense 0.00000824●●●●●●
735. 38607977 c.3763C>A p.L1255M missense 0.00000824●●●●●●
736. 38592795 c.5068_5070delGAC p.Asp1690del inframe 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.