HADHB missense variants in ExAC

HADHB gene summary
HADHB variants in

The table below lists the HADHB 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. 26502880 c.830A>G p.K277R missense 0.00276686●●●●●●
2. 26501553 c.514C>T p.P172S missense 0.00014002●●●●●●
3. 26505881 c.1023G>T p.M341I missense 0.00011540●●●●●●
4. 26501599 c.560A>G p.N187S missense 0.00010707●●●●●●
5. 26501604 c.565G>A p.A189T missense 0.00009884●●●●●●
6. 26502126 c.754G>T p.A252S missense 0.00007414●●●●●●
7. 26499983 c.397A>G p.T133A missense 0.00006598●●●●●●
8. 26502007 c.635C>T p.P212L missense 0.00006597●●●●●●
9. 26501628 c.589T>C p.S197P missense 0.00006589●●●●●●
10. 26477300 c.67A>G p.I23V missense 0.00005777●●●●●●
11. 26501547 c.508G>A p.D170N missense 0.00005766●●●●●●
12. 26496530 c.266A>G p.H89R missense 0.00004960●●●●●●
13. 26496536 c.272C>T p.T91I missense 0.00004956●●●●●●
14. 26502012 c.640G>A p.V214I missense 0.00004947●●●●●●
15. 26508362 c.1312G>T p.V438F missense 0.00004945●●●●●●
16. 26486320 c.182G>A p.R61H missense 0.00004942●●●●●●
17. 26502122 c.750T>G p.S250R missense 0.00004119●●●●●●
18. 26486311 c.173A>G p.D58G missense 0.00004118●●●●●●
19. 26477342 c.109G>C p.A37P missense 0.00003323●●●●●●
20. 26502895 c.845G>A p.R282H missense 0.00003300●●●●●●
21. 26502967 c.917C>G p.A306G missense 0.00003296●●●●●●
22. 26501623 c.584G>A p.R195Q missense 0.00003295●●●●●●
23. 26502106 c.734C>T p.A245V missense 0.00003295●●●●●●
24. 26492859 c.248C>T p.A83V missense 0.00003295●●●●●●
25. 26477339 c.106C>T p.P36S missense 0.00002488●●●●●●
26. 26496549 c.285G>T p.K95N missense 0.00002476●●●●●●
27. 26477129 c.7A>G p.I3V missense 0.00002475●●●●●●
28. 26508387 c.1337G>A p.R446Q missense 0.00002475●●●●●●
29. 26505779 c.1000A>C p.K334Q missense 0.00002474●●●●●●
30. 26502181 c.809C>T p.P270L missense 0.00002474●●●●●●
31. 26502085 c.713G>A p.R238Q missense 0.00002472●●●●●●
32. 26507038 c.1115A>T p.D372V missense 0.00002472●●●●●●
33. 26492865 c.254C>T p.T85M missense 0.00002472●●●●●●
34. 26502045 c.673C>A p.H225N missense 0.00002472●●●●●●
35. 26508339 c.1289T>C p.F430S missense 0.00002472●●●●●●
36. 26501520 c.481G>A p.V161M missense 0.00002471●●●●●●
37. 26486263 c.125C>T p.T42M missense 0.00002471●●●●●●
38. 26486272 c.134C>T p.T45M missense 0.00002471●●●●●●
39. 26496617 c.353A>T p.E118V missense 0.00001685●●●●●●
40. 26500011 c.425A>C p.N142T missense 0.00001674●●●●●●
41. 26496610 c.346G>T p.A116S missense 0.00001666●●●●●●
42. 26505720 c.941G>T p.G314V missense 0.00001666●●●●●●
43. 26496605 c.341A>G p.N114S missense 0.00001661●●●●●●
44. 26496604 c.340A>G p.N114D missense 0.00001659●●●●●●
45. 26508414 c.1364T>C p.V455A missense 0.00001659●●●●●●
46. 26505731 c.952A>G p.M318V missense 0.00001658●●●●●●
47. 26507802 c.1201A>G p.N401D missense 0.00001655●●●●●●
48. 26477331 c.98G>A p.R33Q missense 0.00001655●●●●●●
49. 26505744 c.965C>T p.A322V missense 0.00001654●●●●●●
50. 26477324 c.91C>G p.Q31E missense 0.00001653●●●●●●
51. 26496531 c.267T>A p.H89Q missense 0.00001653●●●●●●
52. 26496533 c.269G>A p.R90Q missense 0.00001652●●●●●●
53. 26496559 c.295G>T p.D99Y missense 0.00001650●●●●●●
54. 26508386 c.1336C>T p.R446W missense 0.00001650●●●●●●
55. 26499972 c.386C>T p.T129I missense 0.00001649●●●●●●
56. 26499974 c.388C>T p.P130S missense 0.00001649●●●●●●
57. 26505873 c.1015G>A p.D339N missense 0.00001649●●●●●●
58. 26499977 c.391G>A p.A131T missense 0.00001649●●●●●●
59. 26502913 c.863A>G p.Q288R missense 0.00001649●●●●●●
60. 26508351 c.1301G>T p.G434V missense 0.00001648●●●●●●
61. 26507025 c.1102T>G p.L368V missense 0.00001648●●●●●●
62. 26508330 c.1280G>A p.G427E missense 0.00001648●●●●●●
63. 26502918 c.868G>A p.A290T missense 0.00001648●●●●●●
64. 26502969 c.919A>G p.N307D missense 0.00001648●●●●●●
65. 26501496 c.457G>A p.A153T missense 0.00001648●●●●●●
66. 26502043 c.671G>C p.G224A missense 0.00001648●●●●●●
67. 26486254 c.116A>G p.Q39R missense 0.00001648●●●●●●
68. 26492841 c.230A>G p.H77R missense 0.00001647●●●●●●
69. 26486312 c.174T>G p.D58E missense 0.00001647●●●●●●
70. 26501607 c.568A>C p.K190Q missense 0.00001647●●●●●●
71. 26508434 c.1384G>A p.G462R missense 0.00000843●●●●●●
72. 26500011 c.425A>G p.N142S missense 0.00000837●●●●●●
73. 26508426 c.1376C>A p.A459E missense 0.00000834●●●●●●
74. 26500005 c.419C>A p.S140Y missense 0.00000832●●●●●●
75. 26508420 c.1370C>T p.A457V missense 0.00000831●●●●●●
76. 26505726 c.947C>T p.S316F missense 0.00000830●●●●●●
77. 26496602 c.338G>A p.S113N missense 0.00000829●●●●●●
78. 26502868 c.818A>G p.D273G missense 0.00000829●●●●●●
79. 26496520 c.256G>A p.G86S missense 0.00000829●●●●●●
80. 26508414 c.1364T>G p.V455G missense 0.00000829●●●●●●
81. 26508414 c.1364T>A p.V455E missense 0.00000829●●●●●●
82. 26477186 c.64T>C p.S22P missense 0.00000828●●●●●●
83. 26496521 c.257G>T p.G86V missense 0.00000828●●●●●●
84. 26477183 c.61T>G p.F21V missense 0.00000828●●●●●●
85. 26505744 c.965C>A p.A322E missense 0.00000827●●●●●●
86. 26507796 c.1195G>T p.A399S missense 0.00000827●●●●●●
87. 26477328 c.95T>C p.L32P missense 0.00000827●●●●●●
88. 26500023 c.437C>T p.T146I missense 0.00000827●●●●●●
89. 26496595 c.331A>G p.K111E missense 0.00000827●●●●●●
90. 26505741 c.962T>C p.M321T missense 0.00000827●●●●●●
91. 26499993 c.407T>C p.M136T missense 0.00000826●●●●●●
92. 26496592 c.328G>A p.V110M missense 0.00000826●●●●●●
93. 26496592 c.328G>C p.V110L missense 0.00000826●●●●●●
94. 26502885 c.835A>G p.N279D missense 0.00000826●●●●●●
95. 26505749 c.970G>A p.E324K missense 0.00000826●●●●●●
96. 26496584 c.320T>C p.I107T missense 0.00000826●●●●●●
97. 26499989 c.403A>G p.T135A missense 0.00000826●●●●●●
98. 26505754 c.975G>T p.K325N missense 0.00000826●●●●●●
99. 26496532 c.268C>T p.R90W missense 0.00000826●●●●●●
100. 26502889 c.839G>A p.G280D missense 0.00000825●●●●●●
101. 26508379 c.1329C>G p.N443K missense 0.00000825●●●●●●
102. 26499983 c.397A>C p.T133P missense 0.00000825●●●●●●
103. 26505764 c.985A>T p.M329L missense 0.00000825●●●●●●
104. 26505777 c.998C>T p.P333L missense 0.00000825●●●●●●
105. 26506993 c.1070A>G p.Y357C missense 0.00000825●●●●●●
106. 26502894 c.844C>T p.R282C missense 0.00000825●●●●●●
107. 26505773 c.994A>G p.K332E missense 0.00000825●●●●●●
108. 26496570 c.306C>G p.I102M missense 0.00000825●●●●●●
109. 26477302 c.69A>G p.I23M missense 0.00000825●●●●●●
110. 26506995 c.1072G>C p.A358P missense 0.00000825●●●●●●
111. 26508380 c.1330A>G p.R444G missense 0.00000825●●●●●●
112. 26496542 c.278T>C p.V93A missense 0.00000825●●●●●●
113. 26505776 c.997C>G p.P333A missense 0.00000825●●●●●●
114. 26507776 c.1175C>G p.A392G missense 0.00000825●●●●●●
115. 26506995 c.1072G>A p.A358T missense 0.00000825●●●●●●
116. 26505764 c.985A>G p.M329V missense 0.00000825●●●●●●
117. 26508301 c.1251T>G p.F417L missense 0.00000824●●●●●●
118. 26501598 c.559A>C p.N187H missense 0.00000824●●●●●●
119. 26505910 c.1052T>A p.L351Q missense 0.00000824●●●●●●
120. 26502915 c.865A>G p.M289V missense 0.00000824●●●●●●
121. 26502084 c.712C>T p.R238W missense 0.00000824●●●●●●
122. 26502031 c.659G>A p.S220N missense 0.00000824●●●●●●
123. 26501532 c.493G>A p.V165I missense 0.00000824●●●●●●
124. 26508369 c.1319C>G p.A440G missense 0.00000824●●●●●●
125. 26502058 c.686G>A p.R229Q missense 0.00000824●●●●●●
126. 26501607 c.568A>G p.K190E missense 0.00000824●●●●●●
127. 26512814 c.1418C>T p.P473L missense 0.00000824●●●●●●
128. 26502127 c.755C>T p.A252V missense 0.00000824●●●●●●
129. 26499957 c.371G>T p.G124V missense 0.00000824●●●●●●
130. 26486337 c.199T>C p.S67P missense 0.00000824●●●●●●
131. 26501647 c.608G>A p.R203Q missense 0.00000824●●●●●●
132. 26486250 c.112G>T p.V38F missense 0.00000824●●●●●●
133. 26502922 c.872A>G p.K291R missense 0.00000824●●●●●●
134. 26502039 c.667A>G p.M223V missense 0.00000824●●●●●●
135. 26501613 c.574A>G p.M192V missense 0.00000824●●●●●●
136. 26507065 c.1142C>G p.A381G missense 0.00000824●●●●●●
137. 26501541 c.502A>T p.M168L missense 0.00000824●●●●●●
138. 26502979 c.929T>C p.F310S missense 0.00000824●●●●●●
139. 26502176 c.804A>C p.K268N missense 0.00000824●●●●●●
140. 26508345 c.1295C>T p.A432V missense 0.00000824●●●●●●
141. 26501662 c.623C>T p.A208V missense 0.00000824●●●●●●
142. 26501559 c.520C>T p.R174C missense 0.00000824●●●●●●
143. 26502933 c.883G>T p.A295S missense 0.00000824●●●●●●
144. 26492832 c.221T>G p.L74R missense 0.00000824●●●●●●
145. 26486292 c.154A>T p.R52W missense 0.00000824●●●●●●
146. 26501589 c.550C>A p.L184I missense 0.00000824●●●●●●
147. 26508285 c.1235C>T p.P412L missense 0.00000824●●●●●●
148. 26501617 c.578G>A p.G193D missense 0.00000824●●●●●●
149. 26486322 c.184A>G p.T62A missense 0.00000824●●●●●●
150. 26486319 c.181C>T p.R61C missense 0.00000824●●●●●●
151. 26502141 c.769G>A p.D257N missense 0.00000824●●●●●●
152. 26508371 c.1321G>A p.A441T missense 0.00000824●●●●●●
153. 26508348 c.1298C>T p.T433I missense 0.00000824●●●●●●
154. 26502112 c.740G>A p.R247H missense 0.00000824●●●●●●
155. 26501514 c.475G>A p.V159M missense 0.00000824●●●●●●
156. 26499953 c.367G>A p.A123T missense 0.00000824●●●●●●
157. 26507071 c.1148C>T p.S383L missense 0.00000824●●●●●●
158. 26499948 c.362T>C p.L121P missense 0.00000824●●●●●●
159. 26502945 c.895C>G p.P299A missense 0.00000824●●●●●●
160. 26492837 c.226C>T p.P76S 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.