HADHB variants in ExAC

HADHB gene summary
HADHB variants in

The table below lists the HADHB 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. 26477125 c.3_4insACT p.Met1_Thr2insThr inframe 0.83154048●●●●●●
2. 26507076 c.1149+4A>T splice site 0.13787137●●●●●●
3. 26502857 c.812-5A>T splice site 0.00278668●●●●●●
4. 26502880 c.830A>G p.K277R missense 0.00276686●●●●●●
5. 26507830 c.1224+5G>A splice site 0.00070638●●●●●●
6. 26508443 c.1389+4C>T splice site 0.00041135●●●●●●
7. 26477197 c.64+11T>C splice site 0.00039904●●●●●●
8. 26512781 c.1390-5T>C splice site 0.00018944●●●●●●
9. 26501553 c.514C>T p.P172S missense 0.00014002●●●●●●
10. 26505881 c.1023G>T p.M341I missense 0.00011540●●●●●●
11. 26501599 c.560A>G p.N187S missense 0.00010707●●●●●●
12. 26501604 c.565G>A p.A189T missense 0.00009884●●●●●●
13. 26477347 c.109+5A>G splice site 0.00008346●●●●●●
14. 26496518 c.255-1G>A essential splice site 0.00007461●●●●●●
15. 26492873 c.254+8A>G splice site 0.00007415●●●●●●
16. 26502126 c.754G>T p.A252S missense 0.00007414●●●●●●
17. 26499983 c.397A>G p.T133A missense 0.00006598●●●●●●
18. 26502007 c.635C>T p.P212L missense 0.00006597●●●●●●
19. 26501628 c.589T>C p.S197P missense 0.00006589●●●●●●
20. 26477300 c.67A>G p.I23V missense 0.00005777●●●●●●
21. 26501547 c.508G>A p.D170N missense 0.00005766●●●●●●
22. 26496530 c.266A>G p.H89R missense 0.00004960●●●●●●
23. 26496536 c.272C>T p.T91I missense 0.00004956●●●●●●
24. 26502012 c.640G>A p.V214I missense 0.00004947●●●●●●
25. 26508362 c.1312G>T p.V438F missense 0.00004945●●●●●●
26. 26486320 c.182G>A p.R61H missense 0.00004942●●●●●●
27. 26507079 c.1149+7A>T splice site 0.00004119●●●●●●
28. 26502122 c.750T>G p.S250R missense 0.00004119●●●●●●
29. 26486311 c.173A>G p.D58G missense 0.00004118●●●●●●
30. 26477342 c.109G>C p.A37P missense 0.00003323●●●●●●
31. 26502895 c.845G>A p.R282H missense 0.00003300●●●●●●
32. 26505868 c.1014-4C>T splice site 0.00003297●●●●●●
33. 26502967 c.917C>G p.A306G missense 0.00003296●●●●●●
34. 26501623 c.584G>A p.R195Q missense 0.00003295●●●●●●
35. 26492859 c.248C>T p.A83V missense 0.00003295●●●●●●
36. 26502106 c.734C>T p.A245V missense 0.00003295●●●●●●
37. 26477339 c.106C>T p.P36S missense 0.00002488●●●●●●
38. 26496549 c.285G>T p.K95N missense 0.00002476●●●●●●
39. 26477129 c.7A>G p.I3V missense 0.00002475●●●●●●
40. 26508387 c.1337G>A p.R446Q missense 0.00002475●●●●●●
41. 26505921 c.1061+2_1061+3insAG splice site 0.00002474●●●●●●
42. 26502181 c.809C>T p.P270L missense 0.00002474●●●●●●
43. 26505779 c.1000A>C p.K334Q missense 0.00002474●●●●●●
44. 26502057 c.685C>T p.R229X nonsense 0.00002472●●●●●●
45. 26502085 c.713G>A p.R238Q missense 0.00002472●●●●●●
46. 26502045 c.673C>A p.H225N missense 0.00002472●●●●●●
47. 26507038 c.1115A>T p.D372V missense 0.00002472●●●●●●
48. 26508339 c.1289T>C p.F430S missense 0.00002472●●●●●●
49. 26492865 c.254C>T p.T85M missense 0.00002472●●●●●●
50. 26486263 c.125C>T p.T42M missense 0.00002471●●●●●●
51. 26501520 c.481G>A p.V161M missense 0.00002471●●●●●●
52. 26486272 c.134C>T p.T45M missense 0.00002471●●●●●●
53. 26496617 c.353A>T p.E118V missense 0.00001685●●●●●●
54. 26500011 c.425A>C p.N142T missense 0.00001674●●●●●●
55. 26502857 c.812-5A>C splice site 0.00001669●●●●●●
56. 26505720 c.941G>T p.G314V missense 0.00001666●●●●●●
57. 26496610 c.346G>T p.A116S missense 0.00001666●●●●●●
58. 26502860 c.812-2A>G essential splice site 0.00001664●●●●●●
59. 26496512 c.255-7C>T splice site 0.00001663●●●●●●
60. 26496605 c.341A>G p.N114S missense 0.00001661●●●●●●
61. 26496604 c.340A>G p.N114D missense 0.00001659●●●●●●
62. 26508414 c.1364T>C p.V455A missense 0.00001659●●●●●●
63. 26505731 c.952A>G p.M318V missense 0.00001658●●●●●●
64. 26477189 c.64+3A>G splice site 0.00001657●●●●●●
65. 26477331 c.98G>A p.R33Q missense 0.00001655●●●●●●
66. 26507802 c.1201A>G p.N401D missense 0.00001655●●●●●●
67. 26505744 c.965C>T p.A322V missense 0.00001654●●●●●●
68. 26477324 c.91C>G p.Q31E missense 0.00001653●●●●●●
69. 26496531 c.267T>A p.H89Q missense 0.00001653●●●●●●
70. 26496533 c.269G>A p.R90Q missense 0.00001652●●●●●●
71. 26496559 c.295G>T p.D99Y missense 0.00001650●●●●●●
72. 26508386 c.1336C>T p.R446W missense 0.00001650●●●●●●
73. 26502913 c.863A>G p.Q288R missense 0.00001649●●●●●●
74. 26499977 c.391G>A p.A131T missense 0.00001649●●●●●●
75. 26505873 c.1015G>A p.D339N missense 0.00001649●●●●●●
76. 26499972 c.386C>T p.T129I missense 0.00001649●●●●●●
77. 26499974 c.388C>T p.P130S missense 0.00001649●●●●●●
78. 26505787 c.1008T>G p.Y336X nonsense 0.00001649●●●●●●
79. 26502043 c.671G>C p.G224A missense 0.00001648●●●●●●
80. 26501478 c.443-4G>A splice site 0.00001648●●●●●●
81. 26502918 c.868G>A p.A290T missense 0.00001648●●●●●●
82. 26508351 c.1301G>T p.G434V missense 0.00001648●●●●●●
83. 26486254 c.116A>G p.Q39R missense 0.00001648●●●●●●
84. 26507025 c.1102T>G p.L368V missense 0.00001648●●●●●●
85. 26501496 c.457G>A p.A153T missense 0.00001648●●●●●●
86. 26501646 c.607C>T p.R203X nonsense 0.00001648●●●●●●
87. 26508330 c.1280G>A p.G427E missense 0.00001648●●●●●●
88. 26502969 c.919A>G p.N307D missense 0.00001648●●●●●●
89. 26492841 c.230A>G p.H77R missense 0.00001647●●●●●●
90. 26486312 c.174T>G p.D58E missense 0.00001647●●●●●●
91. 26501607 c.568A>C p.K190Q missense 0.00001647●●●●●●
92. 26508441 c.1389+2T>C essential splice site 0.00000855●●●●●●
93. 26508434 c.1384G>A p.G462R missense 0.00000843●●●●●●
94. 26496613 c.349A>T p.R117X nonsense 0.00000837●●●●●●
95. 26500011 c.425A>G p.N142S missense 0.00000837●●●●●●
96. 26508426 c.1376C>A p.A459E missense 0.00000834●●●●●●
97. 26477346 c.109+4C>T splice site 0.00000834●●●●●●
98. 26500005 c.419C>A p.S140Y missense 0.00000832●●●●●●
99. 26508420 c.1370C>T p.A457V missense 0.00000831●●●●●●
100. 26505726 c.947C>T p.S316F missense 0.00000830●●●●●●
101. 26496520 c.256G>A p.G86S missense 0.00000829●●●●●●
102. 26508414 c.1364T>A p.V455E missense 0.00000829●●●●●●
103. 26502868 c.818A>G p.D273G missense 0.00000829●●●●●●
104. 26496519 c.255G>A p.T85T splice site 0.00000829●●●●●●
105. 26508414 c.1364T>G p.V455G missense 0.00000829●●●●●●
106. 26496602 c.338G>A p.S113N missense 0.00000829●●●●●●
107. 26477183 c.61T>G p.F21V missense 0.00000828●●●●●●
108. 26477186 c.64T>C p.S22P missense 0.00000828●●●●●●
109. 26496521 c.257G>T p.G86V missense 0.00000828●●●●●●
110. 26477330 c.97C>T p.R33X nonsense 0.00000827●●●●●●
111. 26505744 c.965C>A p.A322E missense 0.00000827●●●●●●
112. 26477324 c.91C>T p.Q31X nonsense 0.00000827●●●●●●
113. 26500023 c.437C>T p.T146I missense 0.00000827●●●●●●
114. 26507796 c.1195G>T p.A399S missense 0.00000827●●●●●●
115. 26507800 c.1199delA p.Asn401ThrfsTer54 frameshift 0.00000827●●●●●●
116. 26496595 c.331A>G p.K111E missense 0.00000827●●●●●●
117. 26477328 c.95T>C p.L32P missense 0.00000827●●●●●●
118. 26505741 c.962T>C p.M321T missense 0.00000827●●●●●●
119. 26496532 c.268C>T p.R90W missense 0.00000826●●●●●●
120. 26496592 c.328G>A p.V110M missense 0.00000826●●●●●●
121. 26499989 c.403A>G p.T135A missense 0.00000826●●●●●●
122. 26505754 c.975G>T p.K325N missense 0.00000826●●●●●●
123. 26506982 c.1062-3C>T splice site 0.00000826●●●●●●
124. 26499993 c.407T>C p.M136T missense 0.00000826●●●●●●
125. 26496592 c.328G>C p.V110L missense 0.00000826●●●●●●
126. 26496584 c.320T>C p.I107T missense 0.00000826●●●●●●
127. 0 c.-8-8C>A splice site 0.00000826●●●●●●
128. 26502885 c.835A>G p.N279D missense 0.00000826●●●●●●
129. 26505749 c.970G>A p.E324K missense 0.00000826●●●●●●
130. 26505764 c.985A>G p.M329V missense 0.00000825●●●●●●
131. 26496553 c.289delG p.Val97Ter frameshift 0.00000825●●●●●●
132. 26477302 c.69A>G p.I23M missense 0.00000825●●●●●●
133. 26505776 c.997C>G p.P333A missense 0.00000825●●●●●●
134. 26477125 c.3_4insGCT p.Met1_Thr2insAla inframe 0.00000825●●●●●●
135. 26502182 c.810A>G splice site 0.00000825●●●●●●
136. 26506995 c.1072G>C p.A358P missense 0.00000825●●●●●●
137. 26477290 c.65-8T>C splice site 0.00000825●●●●●●
138. 26499983 c.397A>C p.T133P missense 0.00000825●●●●●●
139. 26502894 c.844C>T p.R282C missense 0.00000825●●●●●●
140. 26507776 c.1175C>G p.A392G missense 0.00000825●●●●●●
141. 26505777 c.998C>T p.P333L missense 0.00000825●●●●●●
142. 26496570 c.306C>G p.I102M missense 0.00000825●●●●●●
143. 26477125 c.3_4insACC p.Met1_Thr2insThr inframe 0.00000825●●●●●●
144. 26506995 c.1072G>A p.A358T missense 0.00000825●●●●●●
145. 26505764 c.985A>T p.M329L missense 0.00000825●●●●●●
146. 26502184 c.811+1G>A essential splice site 0.00000825●●●●●●
147. 26496542 c.278T>C p.V93A missense 0.00000825●●●●●●
148. 26508379 c.1329C>G p.N443K missense 0.00000825●●●●●●
149. 26501674 c.630+5G>A splice site 0.00000825●●●●●●
150. 26502889 c.839G>A p.G280D missense 0.00000825●●●●●●
151. 26505773 c.994A>G p.K332E missense 0.00000825●●●●●●
152. 26508380 c.1330A>G p.R444G missense 0.00000825●●●●●●
153. 26502000 c.631-3C>T splice site 0.00000825●●●●●●
154. 26506993 c.1070A>G p.Y357C missense 0.00000825●●●●●●
155. 26501668 c.629_630+3delAGGTA essential splice site 0.00000824●●●●●●
156. 26507065 c.1142C>G p.A381G missense 0.00000824●●●●●●
157. 26501589 c.550C>A p.L184I missense 0.00000824●●●●●●
158. 26501514 c.475G>A p.V159M missense 0.00000824●●●●●●
159. 26499953 c.367G>A p.A123T missense 0.00000824●●●●●●
160. 26501622 c.583C>T p.Arg195Ter nonsense 0.00000824●●●●●●
161. 26486354 c.209+7A>T splice site 0.00000824●●●●●●
162. 26505870 c.1014-2A>T essential splice site 0.00000824●●●●●●
163. 26502945 c.895C>G p.P299A missense 0.00000824●●●●●●
164. 26508285 c.1235C>T p.P412L missense 0.00000824●●●●●●
165. 26508345 c.1295C>T p.A432V missense 0.00000824●●●●●●
166. 26492812 c.210-9G>A splice site 0.00000824●●●●●●
167. 26486337 c.199T>C p.S67P missense 0.00000824●●●●●●
168. 26501525 c.486delA p.Gly163ValfsTer5 frameshift 0.00000824●●●●●●
169. 26502915 c.865A>G p.M289V missense 0.00000824●●●●●●
170. 26502147 c.775delG p.Gly259AspfsTer34 frameshift 0.00000824●●●●●●
171. 26508371 c.1321G>A p.A441T missense 0.00000824●●●●●●
172. 26502084 c.712C>T p.R238W missense 0.00000824●●●●●●
173. 26501598 c.559A>C p.N187H missense 0.00000824●●●●●●
174. 26492815 c.210-6C>T splice site 0.00000824●●●●●●
175. 26502112 c.740G>A p.R247H missense 0.00000824●●●●●●
176. 26508308 c.1258_1259delTG p.Trp420GlyfsTer63 frameshift 0.00000824●●●●●●
177. 26486319 c.181C>T p.R61C missense 0.00000824●●●●●●
178. 26507073 c.1149+1G>T essential splice site 0.00000824●●●●●●
179. 26502127 c.755C>T p.A252V missense 0.00000824●●●●●●
180. 26502141 c.769G>A p.D257N missense 0.00000824●●●●●●
181. 26508348 c.1298C>T p.T433I missense 0.00000824●●●●●●
182. 26502031 c.659G>A p.S220N missense 0.00000824●●●●●●
183. 26501647 c.608G>A p.R203Q missense 0.00000824●●●●●●
184. 26505910 c.1052T>A p.L351Q missense 0.00000824●●●●●●
185. 26486348 c.209+1G>A essential splice site 0.00000824●●●●●●
186. 26501532 c.493G>A p.V165I missense 0.00000824●●●●●●
187. 26486250 c.112G>T p.V38F missense 0.00000824●●●●●●
188. 26501559 c.520C>T p.R174C missense 0.00000824●●●●●●
189. 26501586 c.547delA p.Met183CysfsTer16 frameshift 0.00000824●●●●●●
190. 26502922 c.872A>G p.K291R missense 0.00000824●●●●●●
191. 26492832 c.221T>G p.L74R missense 0.00000824●●●●●●
192. 26502058 c.686G>A p.R229Q missense 0.00000824●●●●●●
193. 26501607 c.568A>G p.K190E missense 0.00000824●●●●●●
194. 26508301 c.1251T>G p.F417L missense 0.00000824●●●●●●
195. 26507072 c.1149G>A splice site 0.00000824●●●●●●
196. 26501613 c.574A>G p.M192V missense 0.00000824●●●●●●
197. 26499957 c.371G>T p.G124V missense 0.00000824●●●●●●
198. 26492816 c.210-5C>T splice site 0.00000824●●●●●●
199. 26508369 c.1319C>G p.A440G missense 0.00000824●●●●●●
200. 26502039 c.667A>G p.M223V missense 0.00000824●●●●●●
201. 26486292 c.154A>T p.R52W missense 0.00000824●●●●●●
202. 26501662 c.623C>T p.A208V missense 0.00000824●●●●●●
203. 26501541 c.502A>T p.M168L missense 0.00000824●●●●●●
204. 26492868 c.254+3A>G splice site 0.00000824●●●●●●
205. 26499948 c.362T>C p.L121P missense 0.00000824●●●●●●
206. 26502979 c.929T>C p.F310S missense 0.00000824●●●●●●
207. 26502933 c.883G>T p.A295S missense 0.00000824●●●●●●
208. 26507071 c.1148C>T p.S383L missense 0.00000824●●●●●●
209. 26512814 c.1418C>T p.P473L missense 0.00000824●●●●●●
210. 26502176 c.804A>C p.K268N missense 0.00000824●●●●●●
211. 26492837 c.226C>T p.P76S missense 0.00000824●●●●●●
212. 26502064 c.692_693insCGCT p.Ala233ArgfsTer12 frameshift 0.00000824●●●●●●
213. 26501617 c.578G>A p.G193D missense 0.00000824●●●●●●
214. 26492821 c.210A>G splice site 0.00000824●●●●●●
215. 26508328 c.1278delG p.Gly427AspfsTer28 frameshift 0.00000824●●●●●●
216. 26486322 c.184A>G p.T62A missense 0.00000824●●●●●●
217. 26492820 c.210-1G>T essential 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.