CBS variants in ExAC

CBS gene summary
CBS variants in

The table below lists the CBS 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. 44485715 c.531+11G>A splice site 0.00840225●●●●●●
2. 44480544 c.1145+7C>T splice site 0.00640842●●●●●●
3. 44488631 c.304A>C p.K102Q missense 0.00363186●●●●●●
4. 44480591 c.1105C>T p.R369C missense 0.00327783●●●●●●
5. 44474003 c.1643G>A p.R548Q missense 0.00173124●●●●●●
6. 44492252 c.52C>T p.R18C missense 0.00085875●●●●●●
7. 44492171 c.133C>T p.R45W missense 0.00069983●●●●●●
8. 44483055 c.954+8G>A splice site 0.00064431●●●●●●
9. 44488720 c.215A>T p.K72I missense 0.00062068●●●●●●
10. 44479029 c.1273G>A p.V425M missense 0.00036433●●●●●●
11. 44478972 c.1330G>A p.D444N missense 0.00029981●●●●●●
12. 44486410 c.394C>T p.R132C missense 0.00028180●●●●●●
13. 44486407 c.397G>A p.D133N missense 0.00027355●●●●●●
14. 44486463 c.341C>T p.A114V missense 0.00026526●●●●●●
15. 44485379 c.670C>T p.R224C missense 0.00026394●●●●●●
16. 44483130 c.887C>T p.T296M missense 0.00021435●●●●●●
17. 44485392 c.667-10_667-7delTTCT splice site 0.00018972●●●●●●
18. 44477003 c.1468-6T>G splice site 0.00018442●●●●●●
19. 44492158 c.146C>T p.P49L missense 0.00018275●●●●●●
20. 44483098 c.919G>A p.G307S missense 0.00015665●●●●●●
21. 44479080 c.1224-2A>C essential splice site 0.00015393●●●●●●
22. 44485527 c.636C>G p.N212K missense 0.00014116●●●●●●
23. 44476981 c.1484C>T p.T495M missense 0.00013868●●●●●●
24. 44486374 c.430G>C p.E144Q missense 0.00013312●●●●●●
25. 44482418 c.1039+3G>A splice site 0.00013090●●●●●●
26. 44474004 c.1642C>T p.R548W missense 0.00012890●●●●●●
27. 44486404 c.400G>A p.G134R missense 0.00012440●●●●●●
28. 44488639 c.296T>A p.F99Y missense 0.00012379●●●●●●
29. 44483161 c.856A>G p.I286V missense 0.00010968●●●●●●
30. 44483130 c.887C>G p.T296R missense 0.00010717●●●●●●
31. 44488714 c.221C>T p.P74L missense 0.00009928●●●●●●
32. 44488710 c.225A>T p.K75N missense 0.00009927●●●●●●
33. 44485308 c.736+5G>A splice site 0.00009890●●●●●●
34. 44480624 c.1072G>A p.V358M missense 0.00009638●●●●●●
35. 44476966 c.1499C>T p.S500L missense 0.00009306●●●●●●
36. 44492170 c.134G>A p.R45Q missense 0.00009158●●●●●●
37. 44483079 c.938C>T p.T313M missense 0.00009076●●●●●●
38. 44478946 c.1356G>T splice site 0.00008996●●●●●●
39. 44478946 c.1356G>A splice site 0.00008996●●●●●●
40. 44478986 c.1316G>A p.R439Q missense 0.00008293●●●●●●
41. 44478311 c.1411G>A p.G471R missense 0.00008261●●●●●●
42. 44474052 c.1594G>A p.G532R missense 0.00007550●●●●●●
43. 44478372 c.1359-9G>A splice site 0.00007533●●●●●●
44. 44492129 c.175C>T p.P59S missense 0.00007462●●●●●●
45. 44474082 c.1564G>A p.G522R missense 0.00006703●●●●●●
46. 44485553 c.610G>A p.V204M missense 0.00006669●●●●●●
47. 44492260 c.44G>T p.C15F missense 0.00006375●●●●●●
48. 44492254 c.50A>T p.H17L missense 0.00006338●●●●●●
49. 44492095 c.209C>T p.P70L missense 0.00005790●●●●●●
50. 44483064 c.953C>T p.T318M missense 0.00005779●●●●●●
51. 44484068 c.770C>T p.T257M missense 0.00005712●●●●●●
52. 44479064 c.1238G>A p.R413H missense 0.00004837●●●●●●
53. 44476925 c.1540G>A p.E514K missense 0.00004770●●●●●●
54. 44485618 c.545G>A p.R182Q missense 0.00004527●●●●●●
55. 44478947 c.1355C>T p.A452V missense 0.00004500●●●●●●
56. 44485800 c.457G>A p.G153R missense 0.00004475●●●●●●
57. 44478949 c.1353G>C p.E451D missense 0.00004457●●●●●●
58. 44480655 c.1041T>A splice site 0.00004433●●●●●●
59. 44492239 c.65A>G p.H22R missense 0.00004419●●●●●●
60. 44478965 c.1337C>T p.A446V missense 0.00004338●●●●●●
61. 44479083 c.1224-5C>T splice site 0.00004336●●●●●●
62. 44480541 c.1145+10G>A splice site 0.00004213●●●●●●
63. 44485575 c.588G>C p.R196S missense 0.00004208●●●●●●
64. 44486389 c.415G>A p.G139R missense 0.00004153●●●●●●
65. 44485526 c.637G>A p.E213K missense 0.00004152●●●●●●
66. 44485790 c.467T>C p.L156P missense 0.00004140●●●●●●
67. 44478987 c.1315C>T p.R439W missense 0.00004107●●●●●●
68. 44485625 c.538G>A p.V180M missense 0.00003706●●●●●●
69. 44479019 c.1283C>A p.T428N missense 0.00003543●●●●●●
70. 44485766 c.491G>A p.R164H missense 0.00003448●●●●●●
71. 44492201 c.103G>T p.D35Y missense 0.00003380●●●●●●
72. 44485531 c.632A>G p.K211R missense 0.00003322●●●●●●
73. 44486400 c.404C>T p.T135M missense 0.00003319●●●●●●
74. 44485520 c.643C>T p.P215S missense 0.00003319●●●●●●
75. 44486443 c.361C>T p.R121C missense 0.00003312●●●●●●
76. 44478298 c.1424C>T p.P475L missense 0.00003304●●●●●●
77. 44483092 c.925G>A p.D309N missense 0.00003299●●●●●●
78. 44485755 c.502G>A p.V168M missense 0.00003262●●●●●●
79. 44485738 c.519G>A p.M173I missense 0.00003035●●●●●●
80. 44492299 c.5C>T p.P2L missense 0.00002993●●●●●●
81. 44485731 c.526G>T p.E176X nonsense 0.00002946●●●●●●
82. 44482422 c.1038C>T splice site 0.00002758●●●●●●
83. 44485721 c.531+5G>A splice site 0.00002754●●●●●●
84. 44480663 c.1040-7T>C splice site 0.00002675●●●●●●
85. 44492233 c.71C>T p.A24V missense 0.00002642●●●●●●
86. 44479056 c.1246G>C p.E416Q missense 0.00002610●●●●●●
87. 44482501 c.959T>C p.V320A missense 0.00002593●●●●●●
88. 44482478 c.982G>A p.D328N missense 0.00002556●●●●●●
89. 44492210 c.94T>C p.S32P missense 0.00002553●●●●●●
90. 44480590 c.1106G>A p.R369H missense 0.00002540●●●●●●
91. 44480585 c.1111G>A p.V371M missense 0.00002536●●●●●●
92. 44479417 c.1146-4G>A splice site 0.00002502●●●●●●
93. 44479327 c.1223+9G>A splice site 0.00002487●●●●●●
94. 44486464 c.340G>T p.A114S missense 0.00002487●●●●●●
95. 44479331 c.1223+5G>A splice site 0.00002486●●●●●●
96. 44479328 c.1223+8C>T splice site 0.00002486●●●●●●
97. 44479354 c.1205T>C p.L402P missense 0.00002485●●●●●●
98. 44486442 c.362G>A p.R121H missense 0.00002484●●●●●●
99. 44478343 c.1379C>T p.T460M missense 0.00002483●●●●●●
100. 44483143 c.874G>T p.E292X nonsense 0.00002476●●●●●●
101. 44483142 c.875A>T p.E292V missense 0.00002476●●●●●●
102. 44479065 c.1237C>T p.R413C missense 0.00002387●●●●●●
103. 44479076 c.1226G>T p.W409L missense 0.00002241●●●●●●
104. 44479076 c.1226G>A p.W409X nonsense 0.00002241●●●●●●
105. 44479084 c.1224-6C>T splice site 0.00002161●●●●●●
106. 44492288 c.16C>T p.P6S missense 0.00001914●●●●●●
107. 44492285 c.19delC p.Gln7ArgfsTer75 frameshift 0.00001896●●●●●●
108. 44484030 c.808_810delGAG inframe 0.00001864●●●●●●
109. 44484047 c.791T>C p.I264T missense 0.00001827●●●●●●
110. 44485619 c.544C>T p.R182W missense 0.00001814●●●●●●
111. 44480662 c.1040-6C>G splice site 0.00001780●●●●●●
112. 44492236 c.68C>T p.S23L missense 0.00001761●●●●●●
113. 44480635 c.1061T>C p.V354A missense 0.00001759●●●●●●
114. 44483170 c.847G>A p.E283K missense 0.00001754●●●●●●
115. 44473992 c.1654T>G p.Ter552GlyextTer31 nonsense 0.00001742●●●●●●
116. 44492227 c.77G>C p.G26A missense 0.00001742●●●●●●
117. 44492224 c.80G>A p.S27N missense 0.00001737●●●●●●
118. 44480615 c.1081G>A p.A361T missense 0.00001725●●●●●●
119. 44482454 c.1006C>T p.R336C missense 0.00001711●●●●●●
120. 44480587 c.1109G>A p.C370Y missense 0.00001692●●●●●●
121. 44492203 c.101A>G p.E34G missense 0.00001691●●●●●●
122. 44474019 c.1627G>A p.V543M missense 0.00001691●●●●●●
123. 44486353 c.451G>A p.G151R missense 0.00001673●●●●●●
124. 44486353 c.451G>T p.G151W missense 0.00001673●●●●●●
125. 44492183 c.121C>T p.P41S missense 0.00001672●●●●●●
126. 44486362 c.442G>A p.G148R missense 0.00001668●●●●●●
127. 44486374 c.430G>A p.E144K missense 0.00001664●●●●●●
128. 44485547 c.616G>A p.V206M missense 0.00001664●●●●●●
129. 44486382 c.422C>T p.T141M missense 0.00001662●●●●●●
130. 44479397 c.1162G>T p.D388Y missense 0.00001661●●●●●●
131. 44492152 c.152G>A p.R51K missense 0.00001660●●●●●●
132. 44492132 c.172C>T p.R58W missense 0.00001659●●●●●●
133. 44479343 c.1216_1218delAAG p.Lys406del inframe 0.00001657●●●●●●
134. 44486452 c.352G>A p.V118M missense 0.00001657●●●●●●
135. 44486430 c.374G>A p.R125Q missense 0.00001656●●●●●●
136. 44485490 c.666+7C>G splice site 0.00001655●●●●●●
137. 44483191 c.829-3C>T splice site 0.00001655●●●●●●
138. 44478274 c.1448T>C p.I483T missense 0.00001653●●●●●●
139. 44488689 c.246G>T p.K82N missense 0.00001652●●●●●●
140. 44488634 c.301C>G p.L101V missense 0.00001651●●●●●●
141. 44483077 c.940G>A p.V314M missense 0.00001650●●●●●●
142. 44485378 c.671G>A p.R224H missense 0.00001650●●●●●●
143. 44485373 c.676G>C p.A226P missense 0.00001649●●●●●●
144. 44483113 c.904G>A p.E302K missense 0.00001649●●●●●●
145. 44485349 c.700G>A p.D234N missense 0.00001648●●●●●●
146. 44485307 c.736+6T>C splice site 0.00001648●●●●●●
147. 44484102 c.737-1G>C essential splice site 0.00001142●●●●●●
148. 44484100 c.738delG p.Lys247SerfsTer22 frameshift 0.00001105●●●●●●
149. 0 c.-8-1G>T essential splice site 0.00001060●●●●●●
150. 44484090 c.748A>T p.M250L missense 0.00001034●●●●●●
151. 44492302 c.2T>C p.Met1? missense 0.00001009●●●●●●
152. 44484009 c.828+1G>A essential splice site 0.00001000●●●●●●
153. 44492292 c.12G>C p.E4D missense 0.00000966●●●●●●
154. 44484063 c.775G>A p.G259S missense 0.00000943●●●●●●
155. 44482416 c.1039+5G>C splice site 0.00000942●●●●●●
156. 44492279 c.25G>C p.E9Q missense 0.00000937●●●●●●
157. 44492276 c.28delG frameshift 0.00000930●●●●●●
158. 44492270 c.34C>T p.P12S missense 0.00000922●●●●●●
159. 44484053 c.785C>T p.T262M missense 0.00000914●●●●●●
160. 44492248 c.56C>T p.S19L missense 0.00000898●●●●●●
161. 44485616 c.547G>A p.A183T missense 0.00000898●●●●●●
162. 44480659 c.1040-3C>T splice site 0.00000889●●●●●●
163. 44480651 c.1045A>G p.S349G missense 0.00000884●●●●●●
164. 44480648 c.1048G>T p.A350S missense 0.00000883●●●●●●
165. 44480645 c.1051G>C p.G351R missense 0.00000882●●●●●●
166. 44480638 c.1058C>T p.T353M missense 0.00000880●●●●●●
167. 44480632 c.1064C>T p.A355V missense 0.00000879●●●●●●
168. 44482510 c.955-5C>A splice site 0.00000876●●●●●●
169. 44473991 c.1655G>A nonsense 0.00000872●●●●●●
170. 44492227 c.77G>A p.G26E missense 0.00000871●●●●●●
171. 44480620 c.1076A>T p.K359M missense 0.00000869●●●●●●
172. 44492223 c.81C>A p.S27R missense 0.00000869●●●●●●
173. 44482450 c.1010T>G p.M337R missense 0.00000859●●●●●●
174. 44482495 c.965A>C p.K322T missense 0.00000859●●●●●●
175. 44482496 c.964A>G p.K322E missense 0.00000859●●●●●●
176. 44482451 c.1009A>C p.M337L missense 0.00000858●●●●●●
177. 44492219 c.85G>A p.E29K missense 0.00000858●●●●●●
178. 44482453 c.1007G>A p.R336H missense 0.00000857●●●●●●
179. 44474012 c.1634C>G p.A545G missense 0.00000852●●●●●●
180. 44482473 c.987G>C p.E329D missense 0.00000852●●●●●●
181. 44474013 c.1633G>T p.A545S missense 0.00000851●●●●●●
182. 44485588 c.575C>T p.P192L missense 0.00000851●●●●●●
183. 44480600 c.1096G>A p.E366K missense 0.00000851●●●●●●
184. 44492207 c.97C>T p.P33S missense 0.00000849●●●●●●
185. 44485583 c.580A>G p.N194D missense 0.00000847●●●●●●
186. 44480582 c.1114G>A p.V372I missense 0.00000845●●●●●●
187. 44480561 c.1135C>T p.R379W missense 0.00000843●●●●●●
188. 44480560 c.1136G>A p.R379Q missense 0.00000843●●●●●●
189. 44480564 c.1132G>T p.V378L missense 0.00000843●●●●●●
190. 44474030 c.1616T>C p.L539S missense 0.00000842●●●●●●
191. 44480548 c.1145+3A>G splice site 0.00000842●●●●●●
192. 44474095 c.1553-2A>T essential splice site 0.00000841●●●●●●
193. 44474040 c.1606G>A p.A536T missense 0.00000841●●●●●●
194. 44474046 c.1600G>A p.V534I missense 0.00000840●●●●●●
195. 44485564 c.599C>T p.P200L missense 0.00000837●●●●●●
196. 44474076 c.1570T>C p.S524P missense 0.00000837●●●●●●
197. 44486354 c.450C>T splice site 0.00000836●●●●●●
198. 44492184 c.120G>T p.E40D missense 0.00000836●●●●●●
199. 44479420 c.1146-7C>T splice site 0.00000834●●●●●●
200. 44486376 c.428T>C p.I143T missense 0.00000832●●●●●●
201. 44485538 c.625C>T p.R209W missense 0.00000831●●●●●●
202. 44492158 c.146C>G p.P49R missense 0.00000831●●●●●●
203. 44485539 c.624G>T p.W208C missense 0.00000831●●●●●●
204. 44485537 c.626G>A p.R209Q missense 0.00000831●●●●●●
205. 44492149 c.155G>A p.C52Y missense 0.00000830●●●●●●
206. 44478358 c.1364T>A p.I455N missense 0.00000830●●●●●●
207. 44479397 c.1162G>A p.D388N missense 0.00000830●●●●●●
208. 44478252 c.1467+3A>G splice site 0.00000830●●●●●●
209. 44486397 c.407T>C p.L136P missense 0.00000830●●●●●●
210. 44478349 c.1373T>C p.M458T missense 0.00000829●●●●●●
211. 44486458 c.346G>A p.G116R missense 0.00000829●●●●●●
212. 44479331 c.1223+5G>T splice site 0.00000829●●●●●●
213. 44486403 c.401G>A p.G134E missense 0.00000829●●●●●●
214. 44479328 c.1223+8delC splice site 0.00000829●●●●●●
215. 44488730 c.210-5T>G splice site 0.00000829●●●●●●
216. 44479340 c.1219C>T p.P407S missense 0.00000829●●●●●●
217. 44485516 c.647A>G p.N216S missense 0.00000829●●●●●●
218. 44492131 c.173G>A p.R58Q missense 0.00000829●●●●●●
219. 44479328 c.1223+8C>A splice site 0.00000829●●●●●●
220. 44486404 c.400G>C p.G134R missense 0.00000829●●●●●●
221. 44486454 c.350G>T p.S117I missense 0.00000829●●●●●●
222. 44479342 c.1217A>G p.K406R missense 0.00000829●●●●●●
223. 44486409 c.395G>A p.R132H missense 0.00000829●●●●●●
224. 44479355 c.1204C>A p.L402I missense 0.00000828●●●●●●
225. 44479347 c.1212G>C p.E404D missense 0.00000828●●●●●●
226. 44488717 c.218C>G p.S73C missense 0.00000828●●●●●●
227. 44486424 c.380T>C p.I127T missense 0.00000828●●●●●●
228. 44492125 c.179C>T p.A60V missense 0.00000828●●●●●●
229. 44479346 c.1213A>C p.K405Q missense 0.00000828●●●●●●
230. 44486433 c.371_374dupTGCG p.Met126AlafsTer4 frameshift 0.00000828●●●●●●
231. 44479359 c.1200_1202delGGA p.Glu400del inframe 0.00000828●●●●●●
232. 44483199 c.829-11G>A splice site 0.00000828●●●●●●
233. 44488723 c.212C>A p.A71E missense 0.00000828●●●●●●
234. 44483196 c.829-8C>T splice site 0.00000828●●●●●●
235. 44492120 c.184G>A p.E62K missense 0.00000828●●●●●●
236. 44492101 c.203C>T p.T68I missense 0.00000827●●●●●●
237. 44483188 c.829A>C p.I277L missense 0.00000827●●●●●●
238. 44478331 c.1391T>C p.M464T missense 0.00000827●●●●●●
239. 44483148 c.869C>T p.P290L missense 0.00000827●●●●●●
240. 44484010 c.828_829insG p.Ile277AspfsTer53 frameshift 0.00000827●●●●●●
241. 44492095 c.209C>G p.P70R missense 0.00000827●●●●●●
242. 44483063 c.954G>A splice site 0.00000826●●●●●●
243. 44483056 c.954+7C>T splice site 0.00000826●●●●●●
244. 44483059 c.954+4G>A splice site 0.00000826●●●●●●
245. 44488697 c.238A>G p.I80V missense 0.00000826●●●●●●
246. 44483063 c.954G>C splice site 0.00000826●●●●●●
247. 44478325 c.1397C>T p.S466L missense 0.00000826●●●●●●
248. 44483082 c.935C>A p.P312H missense 0.00000825●●●●●●
249. 44485386 c.667-4G>A splice site 0.00000825●●●●●●
250. 44483068 c.949A>G p.R317G missense 0.00000825●●●●●●
251. 44483155 c.862G>A p.A288T missense 0.00000825●●●●●●
252. 44488668 c.267G>T p.M89I missense 0.00000825●●●●●●
253. c.667-14_667-7delCTCTTTCT splice site 0.00000825●●●●●●
254. 44483143 c.874G>A p.E292K missense 0.00000825●●●●●●
255. 44488669 c.266T>A p.M89K missense 0.00000825●●●●●●
256. 44488648 c.287_291delGGAAG p.Gly96GlufsTer7 frameshift 0.00000825●●●●●●
257. 44488679 c.256G>A p.D86N missense 0.00000825●●●●●●
258. 44483119 c.898A>G p.T300A missense 0.00000824●●●●●●
259. 44485364 c.685C>A p.P229T missense 0.00000824●●●●●●
260. 44485309 c.736+4C>T splice site 0.00000824●●●●●●
261. 44485314 c.735T>C splice site 0.00000824●●●●●●
262. 44485360 c.689delT frameshift 0.00000824●●●●●●
263. 44485363 c.686C>G p.P229R missense 0.00000824●●●●●●
264. 44485306 c.736+7C>T splice site 0.00000824●●●●●●

* This highlights the relative frequency of the variant in the ExAC populations - Non-Finnish European, African, East Asian, South Asian, American and Finnish. Higher frequencies are denoted by darker shades of green, variants absent in a population are coloured light gray.

✝ Genomic coordinates refer to the GRCh37 release of the human genome.