CBS missense variants in ExAC

CBS gene summary
CBS variants in

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