The table below lists the SYNE1 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. | 152540278 | c.21691T>G | p.F7231V | missense | 0.99228184 | ●●●●●● |
| 2. | 152647681 | c.14830T>A | p.L4944M | missense | 0.77974120 | ●●●●●● |
| 3. | 152652034 | c.13573T>A | p.S4525T | missense | 0.77597146 | ●●●●●● |
| 4. | 152658142 | c.12149A>G | p.K4050R | missense | 0.75468099 | ●●●●●● |
| 5. | 152665261 | c.11967G>T | p.E3989D | missense | 0.57614928 | ●●●●●● |
| 6. | 152772264 | c.3125T>C | p.V1042A | missense | 0.48114949 | ●●●●●● |
| 7. | 152469188 | c.24755G>C | p.G8252A | missense | 0.35921903 | ●●●●●● |
| 8. | 152708310 | c.8405C>T | p.A2802V | missense | 0.23728534 | ●●●●●● |
| 9. | 152443744 | c.26077C>A | p.L8693M | missense | 0.11816429 | ●●●●●● |
| 10. | 152658141 | c.12150G>T | p.K4050N | missense | 0.07619222 | ●●●●●● |
| 11. | 152470752 | c.24289G>T | p.A8097S | missense | 0.06772721 | ●●●●●● |
| 12. | 152777095 | c.2674T>G | p.L892V | missense | 0.05559401 | ●●●●●● |
| 13. | 152453291 | c.25916C>T | p.T8639I | missense | 0.05133020 | ●●●●●● |
| 14. | 152443761 | c.26060G>A | p.R8687Q | missense | 0.05089692 | ●●●●●● |
| 15. | 152746593 | c.5211T>A | p.D1737E | missense | 0.04419594 | ●●●●●● |
| 16. | 152640110 | c.16064C>T | p.T5355M | missense | 0.03942293 | ●●●●●● |
| 17. | 152671865 | c.11576A>C | p.K3859T | missense | 0.03638386 | ●●●●●● |
| 18. | 152658062 | c.12229G>C | p.D4077H | missense | 0.02717221 | ●●●●●● |
| 19. | 152779933 | c.2548C>T | p.R850C | missense | 0.02514017 | ●●●●●● |
| 20. | 152629631 | c.17126G>A | p.R5709Q | missense | 0.01959444 | ●●●●●● |
| 21. | 152443756 | c.26065G>A | p.G8689S | missense | 0.01761457 | ●●●●●● |
| 22. | 152532702 | c.22303A>G | p.S7435G | missense | 0.01371198 | ●●●●●● |
| 23. | 152751278 | c.4778C>A | p.T1593K | missense | 0.01261118 | ●●●●●● |
| 24. | 152679518 | c.10619G>A | p.R3540H | missense | 0.01182769 | ●●●●●● |
| 25. | 152668211 | c.11848T>C | p.C3950R | missense | 0.01129585 | ●●●●●● |
| 26. | 152655330 | c.12394G>A | p.E4132K | missense | 0.00845249 | ●●●●●● |
| 27. | 152730273 | c.6491A>G | p.K2164R | missense | 0.00704423 | ●●●●●● |
| 28. | 152711428 | c.8185G>A | p.V2729I | missense | 0.00631544 | ●●●●●● |
| 29. | 152784621 | c.1985A>G | p.Q662R | missense | 0.00628446 | ●●●●●● |
| 30. | 152469204 | c.24739C>T | p.L8247F | missense | 0.00531721 | ●●●●●● |
| 31. | 152708358 | c.8357T>G | p.I2786S | missense | 0.00488476 | ●●●●●● |
| 32. | 152674464 | c.11142G>T | p.K3714N | missense | 0.00437368 | ●●●●●● |
| 33. | 152686090 | c.10058C>A | p.S3353Y | missense | 0.00431617 | ●●●●●● |
| 34. | 152683397 | c.10228G>A | p.G3410S | missense | 0.00418417 | ●●●●●● |
| 35. | 152501416 | c.23102G>A | p.R7701Q | missense | 0.00371189 | ●●●●●● |
| 36. | 152740784 | c.5362A>T | p.I1788F | missense | 0.00359095 | ●●●●●● |
| 37. | 152652184 | c.13423G>A | p.V4475I | missense | 0.00347262 | ●●●●●● |
| 38. | 152774753 | c.3016G>A | p.E1006K | missense | 0.00336129 | ●●●●●● |
| 39. | 152757224 | c.4183C>T | p.R1395W | missense | 0.00289853 | ●●●●●● |
| 40. | 152605135 | c.17972C>T | p.S5991L | missense | 0.00286873 | ●●●●●● |
| 41. | 152738143 | c.5450C>T | p.A1817V | missense | 0.00285672 | ●●●●●● |
| 42. | 152746682 | c.5122G>T | p.A1708S | missense | 0.00282118 | ●●●●●● |
| 43. | 152675893 | c.10848A>C | p.Q3616H | missense | 0.00272643 | ●●●●●● |
| 44. | 152485345 | c.23530G>A | p.D7844N | missense | 0.00270168 | ●●●●●● |
| 45. | 152686105 | c.10043T>C | p.V3348A | missense | 0.00245470 | ●●●●●● |
| 46. | 152712440 | c.7997C>A | p.T2666N | missense | 0.00239014 | ●●●●●● |
| 47. | 152771967 | c.3209T>C | p.V1070A | missense | 0.00219331 | ●●●●●● |
| 48. | 152642480 | c.15916A>C | p.M5306L | missense | 0.00213091 | ●●●●●● |
| 49. | 152751696 | c.4631G>A | p.R1544Q | missense | 0.00203470 | ●●●●●● |
| 50. | 152690150 | c.9785C>T | p.S3262L | missense | 0.00201852 | ●●●●●● |
| 51. | 152763328 | c.3911C>T | p.A1304V | missense | 0.00199296 | ●●●●●● |
| 52. | 152647218 | c.15100G>A | p.D5034N | missense | 0.00188539 | ●●●●●● |
| 53. | 152464786 | c.24947C>T | p.P8316L | missense | 0.00184496 | ●●●●●● |
| 54. | 152780065 | c.2416G>A | p.V806I | missense | 0.00180055 | ●●●●●● |
| 55. | 152655372 | c.12352G>A | p.V4118M | missense | 0.00177390 | ●●●●●● |
| 56. | 152776571 | c.2903G>A | p.R968Q | missense | 0.00175059 | ●●●●●● |
| 57. | 152688435 | c.9911C>T | p.T3304M | missense | 0.00172968 | ●●●●●● |
| 58. | 152563570 | c.19485G>T | p.M6495I | missense | 0.00167296 | ●●●●●● |
| 59. | 152651713 | c.13894G>A | p.D4632N | missense | 0.00167196 | ●●●●●● |
| 60. | 152749427 | c.4910C>T | p.A1637V | missense | 0.00162407 | ●●●●●● |
| 61. | 152776572 | c.2902C>T | p.R968W | missense | 0.00160156 | ●●●●●● |
| 62. | 152737573 | c.6020G>A | p.R2007K | missense | 0.00158142 | ●●●●●● |
| 63. | 152762307 | c.4128T>A | p.F1376L | missense | 0.00149651 | ●●●●●● |
| 64. | 152697692 | c.9169C>G | p.L3057V | missense | 0.00148864 | ●●●●●● |
| 65. | 152690715 | c.9563G>A | p.S3188N | missense | 0.00138470 | ●●●●●● |
| 66. | 152783903 | c.2241G>A | p.M747I | missense | 0.00130303 | ●●●●●● |
| 67. | 152454556 | c.25712T>C | p.L8571P | missense | 0.00122767 | ●●●●●● |
| 68. | 152806014 | c.1162G>A | p.D388N | missense | 0.00122578 | ●●●●●● |
| 69. | 152470773 | c.24268A>C | p.N8090H | missense | 0.00121939 | ●●●●●● |
| 70. | 152792881 | c.1504A>G | p.T502A | missense | 0.00118096 | ●●●●●● |
| 71. | 152786487 | c.1859C>T | p.S620F | missense | 0.00117090 | ●●●●●● |
| 72. | 152722368 | c.6955T>C | p.F2319L | missense | 0.00114611 | ●●●●●● |
| 73. | 152730222 | c.6542C>T | p.T2181I | missense | 0.00114524 | ●●●●●● |
| 74. | 152651539 | c.14068A>G | p.R4690G | missense | 0.00112085 | ●●●●●● |
| 75. | 152762383 | c.4052G>A | p.R1351Q | missense | 0.00107722 | ●●●●●● |
| 76. | 152646425 | c.15238G>A | p.V5080M | missense | 0.00103858 | ●●●●●● |
| 77. | 152734582 | c.6156T>G | p.I2052M | missense | 0.00101315 | ●●●●●● |
| 78. | 152651557 | c.14050C>T | p.L4684F | missense | 0.00100592 | ●●●●●● |
| 79. | 152560744 | c.19778C>T | p.T6593I | missense | 0.00099675 | ●●●●●● |
| 80. | 152615148 | c.17584G>A | p.A5862T | missense | 0.00098860 | ●●●●●● |
| 81. | 152651911 | c.13696G>A | p.D4566N | missense | 0.00093994 | ●●●●●● |
| 82. | 152722413 | c.6910G>A | p.G2304R | missense | 0.00093168 | ●●●●●● |
| 83. | 152665271 | c.11957C>T | p.P3986L | missense | 0.00092249 | ●●●●●● |
| 84. | 152673201 | c.11496G>A | p.M3832I | missense | 0.00084867 | ●●●●●● |
| 85. | 152660377 | c.12137C>T | p.T4046M | missense | 0.00084133 | ●●●●●● |
| 86. | 152720832 | c.7177A>G | p.I2393V | missense | 0.00084035 | ●●●●●● |
| 87. | 152472789 | c.24136C>T | p.R8046W | missense | 0.00083163 | ●●●●●● |
| 88. | 152716752 | c.7632G>T | p.R2544S | missense | 0.00081586 | ●●●●●● |
| 89. | 152749494 | c.4843G>A | p.A1615T | missense | 0.00080009 | ●●●●●● |
| 90. | 152646308 | c.15355C>G | p.Q5119E | missense | 0.00079893 | ●●●●●● |
| 91. | 152673257 | c.11440A>G | p.T3814A | missense | 0.00079083 | ●●●●●● |
| 92. | 152647194 | c.15124G>A | p.V5042I | missense | 0.00076862 | ●●●●●● |
| 93. | 152615118 | c.17614T>C | p.S5872P | missense | 0.00074963 | ●●●●●● |
| 94. | 152631566 | c.16771C>A | p.R5591S | missense | 0.00073311 | ●●●●●● |
| 95. | 152631566 | c.16771C>T | p.R5591C | missense | 0.00071664 | ●●●●●● |
| 96. | 152768726 | c.3557A>C | p.E1186A | missense | 0.00070840 | ●●●●●● |
| 97. | 152583258 | c.18668A>T | p.Q6223L | missense | 0.00070040 | ●●●●●● |
| 98. | 152690199 | c.9736C>G | p.Q3246E | missense | 0.00064341 | ●●●●●● |
| 99. | 152783946 | c.2198A>G | p.E733G | missense | 0.00062675 | ●●●●●● |
| 100. | 152570334 | c.19321G>T | p.A6441S | missense | 0.00062660 | ●●●●●● |
| 101. | 152708464 | c.8251C>A | p.Q2751K | missense | 0.00062633 | ●●●●●● |
| 102. | 152751312 | c.4744C>T | p.L1582F | missense | 0.00062066 | ●●●●●● |
| 103. | 152469433 | c.24510C>G | p.H8170Q | missense | 0.00060389 | ●●●●●● |
| 104. | 152469329 | c.24614C>G | p.A8205G | missense | 0.00060165 | ●●●●●● |
| 105. | 152461162 | c.25237G>A | p.E8413K | missense | 0.00058480 | ●●●●●● |
| 106. | 152631852 | c.16654C>T | p.R5552C | missense | 0.00057847 | ●●●●●● |
| 107. | 152570360 | c.19295A>G | p.N6432S | missense | 0.00057696 | ●●●●●● |
| 108. | 152708334 | c.8381C>T | p.T2794M | missense | 0.00057673 | ●●●●●● |
| 109. | 152706904 | c.8578A>G | p.T2860A | missense | 0.00052719 | ●●●●●● |
| 110. | 152686022 | c.10126A>G | p.M3376V | missense | 0.00047772 | ●●●●●● |
| 111. | 152651729 | c.13878G>T | p.M4626I | missense | 0.00047421 | ●●●●●● |
| 112. | 152545681 | c.21257G>A | p.R7086H | missense | 0.00046979 | ●●●●●● |
| 113. | 152674433 | c.11173A>G | p.T3725A | missense | 0.00046949 | ●●●●●● |
| 114. | 152527409 | c.22700G>A | p.G7567D | missense | 0.00046183 | ●●●●●● |
| 115. | 152718033 | c.7454C>G | p.S2485C | missense | 0.00046147 | ●●●●●● |
| 116. | 152456276 | c.25607A>C | p.D8536A | missense | 0.00046127 | ●●●●●● |
| 117. | 152623012 | c.17320G>A | p.V5774M | missense | 0.00045627 | ●●●●●● |
| 118. | 152485375 | c.23500G>A | p.E7834K | missense | 0.00043662 | ●●●●●● |
| 119. | 152497676 | c.23267C>G | p.A7756G | missense | 0.00043657 | ●●●●●● |
| 120. | 152652867 | c.12740C>T | p.T4247M | missense | 0.00043657 | ●●●●●● |
| 121. | 152527320 | c.22789C>G | p.L7597V | missense | 0.00043220 | ●●●●●● |
| 122. | 152823790 | c.887G>C | p.S296T | missense | 0.00042894 | ●●●●●● |
| 123. | 152694330 | c.9370G>A | p.G3124R | missense | 0.00042316 | ●●●●●● |
| 124. | 152557350 | c.20075C>T | p.S6692L | missense | 0.00041194 | ●●●●●● |
| 125. | 152639250 | c.16325G>A | p.R5442K | missense | 0.00041182 | ●●●●●● |
| 126. | 152461201 | c.25198G>A | p.D8400N | missense | 0.00037064 | ●●●●●● |
| 127. | 152469200 | c.24743G>A | p.R8248Q | missense | 0.00035576 | ●●●●●● |
| 128. | 152443753 | c.26068C>T | p.R8690C | missense | 0.00035444 | ●●●●●● |
| 129. | 152730259 | c.6505A>T | p.S2169C | missense | 0.00035426 | ●●●●●● |
| 130. | 152646407 | c.15256G>A | p.E5086K | missense | 0.00035421 | ●●●●●● |
| 131. | 152651599 | c.14008C>T | p.R4670C | missense | 0.00034700 | ●●●●●● |
| 132. | 152640092 | c.16082G>A | p.R5361Q | missense | 0.00034700 | ●●●●●● |
| 133. | 152652051 | c.13556A>G | p.N4519S | missense | 0.00034635 | ●●●●●● |
| 134. | 152674776 | c.10985G>A | p.C3662Y | missense | 0.00034603 | ●●●●●● |
| 135. | 152614868 | c.17654G>A | p.R5885H | missense | 0.00034597 | ●●●●●● |
| 136. | 152623062 | c.17270C>G | p.T5757R | missense | 0.00033949 | ●●●●●● |
| 137. | 152841658 | c.245G>T | p.R82L | missense | 0.00033190 | ●●●●●● |
| 138. | 152722356 | c.6967A>G | p.I2323V | missense | 0.00032986 | ●●●●●● |
| 139. | 152655323 | c.12401C>T | p.S4134L | missense | 0.00031321 | ●●●●●● |
| 140. | 152651368 | c.14239T>A | p.Y4747N | missense | 0.00031306 | ●●●●●● |
| 141. | 152770699 | c.3494C>T | p.A1165V | missense | 0.00031305 | ●●●●●● |
| 142. | 152675934 | c.10807G>A | p.V3603M | missense | 0.00031299 | ●●●●●● |
| 143. | 152763284 | c.3955G>A | p.E1319K | missense | 0.00030658 | ●●●●●● |
| 144. | 152605116 | c.17991G>C | p.L5997F | missense | 0.00030525 | ●●●●●● |
| 145. | 152563538 | c.19517G>A | p.R6506Q | missense | 0.00030480 | ●●●●●● |
| 146. | 152690259 | c.9676G>A | p.V3226I | missense | 0.00030047 | ●●●●●● |
| 147. | 152565729 | c.19422G>T | p.R6474S | missense | 0.00029669 | ●●●●●● |
| 148. | 152642499 | c.15897C>A | p.H5299Q | missense | 0.00029046 | ●●●●●● |
| 149. | 152536134 | c.22040A>G | p.Y7347C | missense | 0.00028835 | ●●●●●● |
| 150. | 152466652 | c.24802C>T | p.L8268F | missense | 0.00026363 | ●●●●●● |
| 151. | 152536152 | c.22022G>A | p.R7341H | missense | 0.00026363 | ●●●●●● |
| 152. | 152534783 | c.22245T>G | p.N7415K | missense | 0.00026360 | ●●●●●● |
| 153. | 152536084 | c.22090C>T | p.R7364C | missense | 0.00025547 | ●●●●●● |
| 154. | 152551728 | c.20936G>A | p.R6979Q | missense | 0.00025533 | ●●●●●● |
| 155. | 152751829 | c.4498A>G | p.I1500V | missense | 0.00024726 | ●●●●●● |
| 156. | 152711577 | c.8036T>C | p.L2679P | missense | 0.00023992 | ●●●●●● |
| 157. | 152652096 | c.13511G>T | p.C4504F | missense | 0.00023929 | ●●●●●● |
| 158. | 152631649 | c.16688T>C | p.M5563T | missense | 0.00023923 | ●●●●●● |
| 159. | 152746654 | c.5150C>A | p.A1717D | missense | 0.00023905 | ●●●●●● |
| 160. | 152540187 | c.21782A>C | p.H7261P | missense | 0.00023890 | ●●●●●● |
| 161. | 152751303 | c.4753C>T | p.P1585S | missense | 0.00022576 | ●●●●●● |
| 162. | 152737765 | c.5828A>G | p.H1943R | missense | 0.00022242 | ●●●●●● |
| 163. | 152560708 | c.19814G>A | p.R6605Q | missense | 0.00022241 | ●●●●●● |
| 164. | 152443593 | c.26228C>T | p.T8743M | missense | 0.00021589 | ●●●●●● |
| 165. | 152469341 | c.24602G>A | p.R8201Q | missense | 0.00021451 | ●●●●●● |
| 166. | 152527412 | c.22697G>C | p.S7566T | missense | 0.00021440 | ●●●●●● |
| 167. | 152469275 | c.24668A>G | p.D8223G | missense | 0.00020605 | ●●●●●● |
| 168. | 152772183 | c.3206G>A | p.R1069K | missense | 0.00019774 | ●●●●●● |
| 169. | 152469439 | c.24504C>G | p.H8168Q | missense | 0.00019038 | ●●●●●● |
| 170. | 152755013 | c.4399G>A | p.V1467I | missense | 0.00019015 | ●●●●●● |
| 171. | 152690727 | c.9551A>G | p.D3184G | missense | 0.00018969 | ●●●●●● |
| 172. | 152722394 | c.6929C>T | p.T2310M | missense | 0.00018963 | ●●●●●● |
| 173. | 152552563 | c.20789A>G | p.K6930R | missense | 0.00018946 | ●●●●●● |
| 174. | 152461140 | c.25259G>A | p.R8420H | missense | 0.00018944 | ●●●●●● |
| 175. | 152652403 | c.13204G>A | p.E4402K | missense | 0.00018140 | ●●●●●● |
| 176. | 152529146 | c.22572A>G | p.I7524M | missense | 0.00018129 | ●●●●●● |
| 177. | 152470766 | c.24275T>C | p.I8092T | missense | 0.00018124 | ●●●●●● |
| 178. | 152708453 | c.8262G>C | p.Q2754H | missense | 0.00017306 | ●●●●●● |
| 179. | 152614761 | c.17761C>G | p.P5921A | missense | 0.00017298 | ●●●●●● |
| 180. | 152464892 | c.24841A>G | p.S8281G | missense | 0.00017297 | ●●●●●● |
| 181. | 152738131 | c.5462A>G | p.E1821G | missense | 0.00016531 | ●●●●●● |
| 182. | 152602997 | c.18113C>T | p.A6038V | missense | 0.00016502 | ●●●●●● |
| 183. | 152644667 | c.15650G>C | p.G5217A | missense | 0.00016481 | ●●●●●● |
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| 186. | 152453307 | c.25900G>C | p.G8634R | missense | 0.00016473 | ●●●●●● |
| 187. | 152740843 | c.5303A>G | p.Q1768R | missense | 0.00015758 | ●●●●●● |
| 188. | 152712538 | c.7899C>A | p.H2633Q | missense | 0.00015674 | ●●●●●● |
| 189. | 152776725 | c.2749A>G | p.S917G | missense | 0.00015669 | ●●●●●● |
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| 1277. | 152650938 | c.14669C>T | p.A4890V | missense | 0.00001647 | ●●●●●● |
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| 1279. | 152655195 | c.12529G>A | p.V4177I | missense | 0.00001647 | ●●●●●● |
| 1280. | 152655237 | c.12487G>A | p.E4163K | missense | 0.00001647 | ●●●●●● |
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| 1282. | 152665313 | c.11915A>G | p.D3972G | missense | 0.00001647 | ●●●●●● |
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| 1286. | 152673362 | c.11335A>G | p.M3779V | missense | 0.00001647 | ●●●●●● |
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| 1302. | 152688372 | c.9974G>A | p.S3325N | missense | 0.00001647 | ●●●●●● |
| 1303. | 152702151 | c.9020A>T | p.H3007L | missense | 0.00001647 | ●●●●●● |
| 1304. | 152702178 | c.8993C>T | p.T2998M | missense | 0.00001647 | ●●●●●● |
| 1305. | 152734524 | c.6214G>C | p.V2072L | missense | 0.00001647 | ●●●●●● |
| 1306. | 152734610 | c.6128G>A | p.C2043Y | missense | 0.00001647 | ●●●●●● |
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| 1310. | 152771857 | c.3319A>G | p.T1107A | missense | 0.00001647 | ●●●●●● |
| 1311. | 152771883 | c.3293G>A | p.R1098Q | missense | 0.00001647 | ●●●●●● |
| 1312. | 152771917 | c.3259C>T | p.L1087F | missense | 0.00001647 | ●●●●●● |
| 1313. | 152771941 | c.3235C>G | p.H1079D | missense | 0.00001647 | ●●●●●● |
| 1314. | 152804239 | c.1352G>T | p.R451L | missense | 0.00001647 | ●●●●●● |
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| 1316. | 152804266 | c.1325A>G | p.H442R | missense | 0.00001647 | ●●●●●● |
| 1317. | 152576209 | c.19063A>C | p.I6355L | missense | 0.00001556 | ●●●●●● |
| 1318. | 152751261 | c.4795C>T | p.L1599F | missense | 0.00001454 | ●●●●●● |
| 1319. | 152576200 | c.19072A>G | p.M6358V | missense | 0.00001417 | ●●●●●● |
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| 1321. | 152751344 | c.4712T>A | p.I1571N | missense | 0.00001411 | ●●●●●● |
| 1322. | 152751329 | c.4727C>G | p.S1576C | missense | 0.00001326 | ●●●●●● |
| 1323. | 152751321 | c.4735G>A | p.E1579K | missense | 0.00001297 | ●●●●●● |
| 1324. | 152751282 | c.4774G>C | p.A1592P | missense | 0.00001282 | ●●●●●● |
| 1325. | 152762366 | c.4069G>C | p.E1357Q | missense | 0.00001058 | ●●●●●● |
| 1326. | 152762341 | c.4094A>C | p.Q1365P | missense | 0.00000964 | ●●●●●● |
| 1327. | 152784651 | c.1955A>T | p.D652V | missense | 0.00000948 | ●●●●●● |
| 1328. | 152819879 | c.958A>G | p.K320E | missense | 0.00000940 | ●●●●●● |
| 1329. | 152819909 | c.928C>T | p.P310S | missense | 0.00000937 | ●●●●●● |
| 1330. | 152819899 | c.938C>A | p.A313E | missense | 0.00000927 | ●●●●●● |
| 1331. | 152762329 | c.4106G>T | p.S1369I | missense | 0.00000924 | ●●●●●● |
| 1332. | 152819895 | c.942T>G | p.N314K | missense | 0.00000924 | ●●●●●● |
| 1333. | 152762328 | c.4107T>A | p.S1369R | missense | 0.00000920 | ●●●●●● |
| 1334. | 152762326 | c.4109A>G | p.H1370R | missense | 0.00000913 | ●●●●●● |
| 1335. | 152647767 | c.14744C>T | p.A4915V | missense | 0.00000909 | ●●●●●● |
| 1336. | 152786592 | c.1754A>G | p.E585G | missense | 0.00000909 | ●●●●●● |
| 1337. | 152809632 | c.967G>A | p.D323N | missense | 0.00000908 | ●●●●●● |
| 1338. | 152469502 | c.24441T>G | p.D8147E | missense | 0.00000903 | ●●●●●● |
| 1339. | 152762320 | c.4115G>A | p.R1372H | missense | 0.00000897 | ●●●●●● |
| 1340. | 152806085 | c.1091A>G | p.Q364R | missense | 0.00000887 | ●●●●●● |
| 1341. | 152806083 | c.1093T>C | p.Y365H | missense | 0.00000885 | ●●●●●● |
| 1342. | 152658150 | c.12141T>G | p.I4047M | missense | 0.00000883 | ●●●●●● |
| 1343. | 152658151 | c.12140T>C | p.I4047T | missense | 0.00000882 | ●●●●●● |
| 1344. | 152786586 | c.1760C>T | p.A587V | missense | 0.00000880 | ●●●●●● |
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| 1347. | 152631998 | c.16508A>G | p.E5503G | missense | 0.00000876 | ●●●●●● |
| 1348. | 152806070 | c.1106G>C | p.R369T | missense | 0.00000875 | ●●●●●● |
| 1349. | 152623006 | c.17326A>G | p.M5776V | missense | 0.00000874 | ●●●●●● |
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| 1356. | 152712699 | c.7738T>C | p.S2580P | missense | 0.00000856 | ●●●●●● |
| 1357. | 152806049 | c.1127T>C | p.I376T | missense | 0.00000855 | ●●●●●● |
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| 1359. | 152631987 | c.16519G>A | p.E5507K | missense | 0.00000851 | ●●●●●● |
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| 1365. | 152639998 | c.16176G>C | p.K5392N | missense | 0.00000841 | ●●●●●● |
| 1366. | 152469483 | c.24460A>G | p.R8154G | missense | 0.00000840 | ●●●●●● |
| 1367. | 152472788 | c.24137G>A | p.R8046Q | missense | 0.00000840 | ●●●●●● |
| 1368. | 152642381 | c.16015C>G | p.R5339G | missense | 0.00000840 | ●●●●●● |
| 1369. | 152809600 | c.999G>T | p.W333C | missense | 0.00000840 | ●●●●●● |
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| 1372. | 152784623 | c.1983T>G | p.I661M | missense | 0.00000838 | ●●●●●● |
| 1373. | 152555095 | c.20320T>C | p.F6774L | missense | 0.00000836 | ●●●●●● |
| 1374. | 152576097 | c.19175G>A | p.G6392D | missense | 0.00000836 | ●●●●●● |
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| 1377. | 152730695 | c.6401A>G | p.K2134R | missense | 0.00000836 | ●●●●●● |
| 1378. | 152473104 | c.24089G>A | p.R8030H | missense | 0.00000835 | ●●●●●● |
| 1379. | 152576083 | c.19189C>G | p.L6397V | missense | 0.00000835 | ●●●●●● |
| 1380. | 152763215 | c.4024A>G | p.I1342V | missense | 0.00000835 | ●●●●●● |
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| 1384. | 152826522 | c.613A>G | p.I205V | missense | 0.00000834 | ●●●●●● |
| 1385. | 152603100 | c.18010C>G | p.Q6004E | missense | 0.00000833 | ●●●●●● |
| 1386. | 152640016 | c.16158A>C | p.Q5386H | missense | 0.00000833 | ●●●●●● |
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| 1389. | 152603098 | c.18012G>T | p.Q6004H | missense | 0.00000833 | ●●●●●● |
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| 1393. | 152831495 | c.435G>C | p.L145F | missense | 0.00000833 | ●●●●●● |
| 1394. | 152765688 | c.3716G>A | p.G1239E | missense | 0.00000832 | ●●●●●● |
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| 1427. | 152763250 | c.3989G>A | p.G1330D | missense | 0.00000830 | ●●●●●● |
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| 1444. | 152694331 | c.9369T>G | p.N3123K | missense | 0.00000830 | ●●●●●● |
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| 1449. | 152780049 | c.2432C>T | p.S811F | missense | 0.00000830 | ●●●●●● |
| 1450. | 152786551 | c.1795G>T | p.A599S | missense | 0.00000830 | ●●●●●● |
| 1451. | 152809553 | c.1046C>T | p.S349L | missense | 0.00000830 | ●●●●●● |
| 1452. | 152841629 | c.274A>G | p.I92V | missense | 0.00000830 | ●●●●●● |
| 1453. | 152847223 | c.217C>A | p.Q73K | missense | 0.00000830 | ●●●●●● |
| 1454. | 152457760 | c.25508A>T | p.Q8503L | missense | 0.00000829 | ●●●●●● |
| 1455. | 152623056 | c.17276A>T | p.D5759V | missense | 0.00000829 | ●●●●●● |
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| 1820. | 152748856 | c.5093A>G | p.K1698R | missense | 0.00000825 | ●●●●●● |
| 1821. | 152748857 | c.5092A>C | p.K1698Q | missense | 0.00000825 | ●●●●●● |
| 1822. | 152748880 | c.5069T>G | p.M1690R | missense | 0.00000825 | ●●●●●● |
| 1823. | 152749388 | c.4949C>T | p.A1650V | missense | 0.00000825 | ●●●●●● |
| 1824. | 152749389 | c.4948G>A | p.A1650T | missense | 0.00000825 | ●●●●●● |
| 1825. | 152749403 | c.4934A>G | p.D1645G | missense | 0.00000825 | ●●●●●● |
| 1826. | 152749466 | c.4871G>A | p.R1624K | missense | 0.00000825 | ●●●●●● |
| 1827. | 152749472 | c.4865G>C | p.S1622T | missense | 0.00000825 | ●●●●●● |
| 1828. | 152749473 | c.4864A>G | p.S1622G | missense | 0.00000825 | ●●●●●● |
| 1829. | 152749488 | c.4849A>T | p.T1617S | missense | 0.00000825 | ●●●●●● |
| 1830. | 152749496 | c.4841G>A | p.S1614N | missense | 0.00000825 | ●●●●●● |
| 1831. | 152751638 | c.4689G>C | p.K1563N | missense | 0.00000825 | ●●●●●● |
| 1832. | 152751639 | c.4688A>T | p.K1563M | missense | 0.00000825 | ●●●●●● |
| 1833. | 152754954 | c.4458G>A | p.M1486I | missense | 0.00000825 | ●●●●●● |
| 1834. | 152754964 | c.4448C>T | p.S1483L | missense | 0.00000825 | ●●●●●● |
| 1835. | 152754967 | c.4445C>T | p.S1482L | missense | 0.00000825 | ●●●●●● |
| 1836. | 152754973 | c.4439A>C | p.E1480A | missense | 0.00000825 | ●●●●●● |
| 1837. | 152757118 | c.4289T>C | p.I1430T | missense | 0.00000825 | ●●●●●● |
| 1838. | 152757134 | c.4273C>G | p.Q1425E | missense | 0.00000825 | ●●●●●● |
| 1839. | 152757136 | c.4271A>T | p.Q1424L | missense | 0.00000825 | ●●●●●● |
| 1840. | 152765631 | c.3773G>A | p.G1258D | missense | 0.00000825 | ●●●●●● |
| 1841. | 152768631 | c.3652T>A | p.S1218T | missense | 0.00000825 | ●●●●●● |
| 1842. | 152770769 | c.3424G>C | p.E1142Q | missense | 0.00000825 | ●●●●●● |
| 1843. | 152772325 | c.3064G>T | p.A1022S | missense | 0.00000825 | ●●●●●● |
| 1844. | 152776587 | c.2887C>T | p.P963S | missense | 0.00000825 | ●●●●●● |
| 1845. | 152777166 | c.2603G>T | p.C868F | missense | 0.00000825 | ●●●●●● |
| 1846. | 152779930 | c.2551G>A | p.E851K | missense | 0.00000825 | ●●●●●● |
| 1847. | 152779960 | c.2521A>G | p.I841V | missense | 0.00000825 | ●●●●●● |
| 1848. | 152779971 | c.2510C>T | p.S837L | missense | 0.00000825 | ●●●●●● |
| 1849. | 152779975 | c.2506G>T | p.D836Y | missense | 0.00000825 | ●●●●●● |
| 1850. | 152779977 | c.2504A>G | p.Y835C | missense | 0.00000825 | ●●●●●● |
| 1851. | 152779989 | c.2492T>C | p.M831T | missense | 0.00000825 | ●●●●●● |
| 1852. | 152780003 | c.2478A>T | p.E826D | missense | 0.00000825 | ●●●●●● |
| 1853. | 152783907 | c.2237T>A | p.F746Y | missense | 0.00000825 | ●●●●●● |
| 1854. | 152783910 | c.2234C>G | p.S745C | missense | 0.00000825 | ●●●●●● |
| 1855. | 152783919 | c.2225T>C | p.L742S | missense | 0.00000825 | ●●●●●● |
| 1856. | 152783932 | c.2212C>T | p.L738F | missense | 0.00000825 | ●●●●●● |
| 1857. | 152783947 | c.2197G>A | p.E733K | missense | 0.00000825 | ●●●●●● |
| 1858. | 152783989 | c.2155G>A | p.E719K | missense | 0.00000825 | ●●●●●● |
| 1859. | 152783996 | c.2148G>A | p.M716I | missense | 0.00000825 | ●●●●●● |
| 1860. | 152784005 | c.2139G>A | p.M713I | missense | 0.00000825 | ●●●●●● |
| 1861. | 152784006 | c.2138T>A | p.M713K | missense | 0.00000825 | ●●●●●● |
| 1862. | 152784006 | c.2138T>C | p.M713T | missense | 0.00000825 | ●●●●●● |
| 1863. | 152784556 | c.2050C>T | p.R684C | missense | 0.00000825 | ●●●●●● |
| 1864. | 152784570 | c.2036A>G | p.D679G | missense | 0.00000825 | ●●●●●● |
| 1865. | 152786433 | c.1913A>G | p.D638G | missense | 0.00000825 | ●●●●●● |
| 1866. | 152786434 | c.1912G>A | p.D638N | missense | 0.00000825 | ●●●●●● |
| 1867. | 152793548 | c.1372G>T | p.D458Y | missense | 0.00000825 | ●●●●●● |
| 1868. | 152804360 | c.1231G>C | p.D411H | missense | 0.00000825 | ●●●●●● |
| 1869. | 152804365 | c.1226A>G | p.Q409R | missense | 0.00000825 | ●●●●●● |
| 1870. | 152823790 | c.887G>T | p.S296I | missense | 0.00000825 | ●●●●●● |
| 1871. | 152823823 | c.854T>A | p.F285Y | missense | 0.00000825 | ●●●●●● |
| 1872. | 152823845 | c.832A>C | p.I278L | missense | 0.00000825 | ●●●●●● |
| 1873. | 152826342 | c.793C>T | p.P265S | missense | 0.00000825 | ●●●●●● |
| 1874. | 152826343 | c.792T>G | p.D264E | missense | 0.00000825 | ●●●●●● |
| 1875. | 152826384 | c.751A>G | p.T251A | missense | 0.00000825 | ●●●●●● |
| 1876. | 152826413 | c.722C>T | p.S241F | missense | 0.00000825 | ●●●●●● |
| 1877. | 152831449 | c.481T>C | p.S161P | missense | 0.00000825 | ●●●●●● |
| 1878. | 152831455 | c.475G>T | p.A159S | missense | 0.00000825 | ●●●●●● |
| 1879. | 152949415 | c.52A>T | p.M18L | missense | 0.00000825 | ●●●●●● |
| 1880. | 152949424 | c.43G>A | p.A15T | missense | 0.00000825 | ●●●●●● |
| 1881. | 152949427 | c.40A>G | p.I14V | missense | 0.00000825 | ●●●●●● |
| 1882. | 152768738 | c.3545C>T | p.T1182I | missense | 0.00000824 | ●●●●●● |
| 1883. | 152683412 | c.10213G>T | p.V3405F | missense | 0.00000824 | ●●●●●● |
| 1884. | 152453270 | c.25937A>G | p.N8646S | missense | 0.00000824 | ●●●●●● |
| 1885. | 152454461 | c.25807C>T | p.R8603C | missense | 0.00000824 | ●●●●●● |
| 1886. | 152464759 | c.24974A>G | p.Y8325C | missense | 0.00000824 | ●●●●●● |
| 1887. | 152470755 | c.24286A>G | p.I8096V | missense | 0.00000824 | ●●●●●● |
| 1888. | 152477067 | c.23743A>G | p.M7915V | missense | 0.00000824 | ●●●●●● |
| 1889. | 152510520 | c.22955G>A | p.S7652N | missense | 0.00000824 | ●●●●●● |
| 1890. | 152540238 | c.21731A>C | p.D7244A | missense | 0.00000824 | ●●●●●● |
| 1891. | 152576758 | c.19015G>A | p.E6339K | missense | 0.00000824 | ●●●●●● |
| 1892. | 152589246 | c.18547C>T | p.R6183C | missense | 0.00000824 | ●●●●●● |
| 1893. | 152614844 | c.17678G>A | p.R5893H | missense | 0.00000824 | ●●●●●● |
| 1894. | 152631565 | c.16772G>T | p.R5591L | missense | 0.00000824 | ●●●●●● |
| 1895. | 152639330 | c.16245C>A | p.F5415L | missense | 0.00000824 | ●●●●●● |
| 1896. | 152642979 | c.15747A>T | p.Q5249H | missense | 0.00000824 | ●●●●●● |
| 1897. | 152650891 | c.14716A>G | p.I4906V | missense | 0.00000824 | ●●●●●● |
| 1898. | 152651521 | c.14086G>A | p.E4696K | missense | 0.00000824 | ●●●●●● |
| 1899. | 152652024 | c.13583A>G | p.H4528R | missense | 0.00000824 | ●●●●●● |
| 1900. | 152652267 | c.13340G>A | p.R4447H | missense | 0.00000824 | ●●●●●● |
| 1901. | 152652480 | c.13127A>G | p.Y4376C | missense | 0.00000824 | ●●●●●● |
| 1902. | 152652790 | c.12817G>C | p.E4273Q | missense | 0.00000824 | ●●●●●● |
| 1903. | 152652845 | c.12762G>T | p.W4254C | missense | 0.00000824 | ●●●●●● |
| 1904. | 152658058 | c.12233C>A | p.A4078D | missense | 0.00000824 | ●●●●●● |
| 1905. | 152674796 | c.10965C>G | p.H3655Q | missense | 0.00000824 | ●●●●●● |
| 1906. | 152675867 | c.10874A>G | p.E3625G | missense | 0.00000824 | ●●●●●● |
| 1907. | 152675969 | c.10772A>G | p.H3591R | missense | 0.00000824 | ●●●●●● |
| 1908. | 152679579 | c.10558G>A | p.E3520K | missense | 0.00000824 | ●●●●●● |
| 1909. | 152679630 | c.10507G>A | p.E3503K | missense | 0.00000824 | ●●●●●● |
| 1910. | 152680536 | c.10378G>T | p.G3460W | missense | 0.00000824 | ●●●●●● |
| 1911. | 152683378 | c.10247A>T | p.E3416V | missense | 0.00000824 | ●●●●●● |
| 1912. | 152683417 | c.10208A>G | p.D3403G | missense | 0.00000824 | ●●●●●● |
| 1913. | 152702156 | c.9015C>G | p.C3005W | missense | 0.00000824 | ●●●●●● |
| 1914. | 152711490 | c.8123G>A | p.R2708K | missense | 0.00000824 | ●●●●●● |
| 1915. | 152718079 | c.7408C>T | p.L2470F | missense | 0.00000824 | ●●●●●● |
| 1916. | 152719795 | c.7330G>A | p.G2444S | missense | 0.00000824 | ●●●●●● |
| 1917. | 152734513 | c.6225T>G | p.D2075E | missense | 0.00000824 | ●●●●●● |
| 1918. | 152734515 | c.6223G>A | p.D2075N | missense | 0.00000824 | ●●●●●● |
| 1919. | 152737582 | c.6011T>C | p.I2004T | missense | 0.00000824 | ●●●●●● |
| 1920. | 152737609 | c.5984A>G | p.E1995G | missense | 0.00000824 | ●●●●●● |
| 1921. | 152737969 | c.5624C>A | p.S1875Y | missense | 0.00000824 | ●●●●●● |
| 1922. | 152751744 | c.4583G>T | p.R1528L | missense | 0.00000824 | ●●●●●● |
| 1923. | 152770739 | c.3454A>G | p.T1152A | missense | 0.00000824 | ●●●●●● |
| 1924. | 152772200 | c.3189G>T | p.K1063N | missense | 0.00000824 | ●●●●●● |
| 1925. | 152776673 | c.2801G>A | p.R934H | missense | 0.00000824 | ●●●●●● |
| 1926. | 152777103 | c.2666T>C | p.F889S | missense | 0.00000824 | ●●●●●● |
| 1927. | 152792733 | c.1652T>C | p.V551A | missense | 0.00000824 | ●●●●●● |
| 1928. | 152497645 | c.23298A>T | p.Q7766H | missense | 0.00000824 | ●●●●●● |
| 1929. | 152647525 | c.14986G>A | p.G4996S | missense | 0.00000824 | ●●●●●● |
| 1930. | 152652310 | c.13297A>C | p.K4433Q | missense | 0.00000824 | ●●●●●● |
| 1931. | 152652460 | c.13147G>A | p.E4383K | missense | 0.00000824 | ●●●●●● |
| 1932. | 152652900 | c.12707A>G | p.N4236S | missense | 0.00000824 | ●●●●●● |
| 1933. | 152453323 | c.25884T>G | p.D8628E | missense | 0.00000824 | ●●●●●● |
| 1934. | 152462425 | c.25015G>A | p.V8339M | missense | 0.00000824 | ●●●●●● |
| 1935. | 152469324 | c.24619G>A | p.V8207M | missense | 0.00000824 | ●●●●●● |
| 1936. | 152470688 | c.24353T>A | p.L8118Q | missense | 0.00000824 | ●●●●●● |
| 1937. | 152470749 | c.24292C>G | p.Q8098E | missense | 0.00000824 | ●●●●●● |
| 1938. | 152470757 | c.24284T>C | p.I8095T | missense | 0.00000824 | ●●●●●● |
| 1939. | 152545697 | c.21241T>A | p.S7081T | missense | 0.00000824 | ●●●●●● |
| 1940. | 152545726 | c.21212T>C | p.I7071T | missense | 0.00000824 | ●●●●●● |
| 1941. | 152576762 | c.19011A>C | p.L6337F | missense | 0.00000824 | ●●●●●● |
| 1942. | 152583312 | c.18614A>G | p.D6205G | missense | 0.00000824 | ●●●●●● |
| 1943. | 152614766 | c.17756C>G | p.P5919R | missense | 0.00000824 | ●●●●●● |
| 1944. | 152623128 | c.17204C>T | p.T5735M | missense | 0.00000824 | ●●●●●● |
| 1945. | 152639241 | c.16334A>C | p.E5445A | missense | 0.00000824 | ●●●●●● |
| 1946. | 152639350 | c.16225G>A | p.D5409N | missense | 0.00000824 | ●●●●●● |
| 1947. | 152644655 | c.15662C>A | p.P5221Q | missense | 0.00000824 | ●●●●●● |
| 1948. | 152647512 | c.14999T>C | p.L5000P | missense | 0.00000824 | ●●●●●● |
| 1949. | 152650926 | c.14681A>G | p.H4894R | missense | 0.00000824 | ●●●●●● |
| 1950. | 152651367 | c.14240A>G | p.Y4747C | missense | 0.00000824 | ●●●●●● |
| 1951. | 152652703 | c.12904C>G | p.Q4302E | missense | 0.00000824 | ●●●●●● |
| 1952. | 152652867 | c.12740C>G | p.T4247R | missense | 0.00000824 | ●●●●●● |
| 1953. | 152673423 | c.11274G>C | p.R3758S | missense | 0.00000824 | ●●●●●● |
| 1954. | 152674460 | c.11146G>A | p.V3716M | missense | 0.00000824 | ●●●●●● |
| 1955. | 152702142 | c.9029A>C | p.Q3010P | missense | 0.00000824 | ●●●●●● |
| 1956. | 152708404 | c.8311C>A | p.P2771T | missense | 0.00000824 | ●●●●●● |
| 1957. | 152730282 | c.6482C>T | p.S2161F | missense | 0.00000824 | ●●●●●● |
| 1958. | 152737895 | c.5698G>A | p.A1900T | missense | 0.00000824 | ●●●●●● |
| 1959. | 152746637 | c.5167C>G | p.L1723V | missense | 0.00000824 | ●●●●●● |
| 1960. | 152768682 | c.3601G>T | p.V1201F | missense | 0.00000824 | ●●●●●● |
| 1961. | 152771789 | c.3387C>A | p.D1129E | missense | 0.00000824 | ●●●●●● |
| 1962. | 152772237 | c.3152G>A | p.R1051Q | missense | 0.00000824 | ●●●●●● |
| 1963. | 152792734 | c.1651G>A | p.V551M | missense | 0.00000824 | ●●●●●● |
| 1964. | 152456291 | c.25592T>C | p.I8531T | missense | 0.00000824 | ●●●●●● |
| 1965. | 152457860 | c.25408C>T | p.R8470W | missense | 0.00000824 | ●●●●●● |
| 1966. | 152461167 | c.25232C>T | p.T8411M | missense | 0.00000824 | ●●●●●● |
| 1967. | 152461223 | c.25176G>C | p.Q8392H | missense | 0.00000824 | ●●●●●● |
| 1968. | 152461288 | c.25111G>C | p.D8371H | missense | 0.00000824 | ●●●●●● |
| 1969. | 152469257 | c.24686C>A | p.S8229Y | missense | 0.00000824 | ●●●●●● |
| 1970. | 152470676 | c.24365G>A | p.R8122Q | missense | 0.00000824 | ●●●●●● |
| 1971. | 152473183 | c.24010G>C | p.A8004P | missense | 0.00000824 | ●●●●●● |
| 1972. | 152473255 | c.23938G>A | p.E7980K | missense | 0.00000824 | ●●●●●● |
| 1973. | 152477091 | c.23719C>T | p.R7907W | missense | 0.00000824 | ●●●●●● |
| 1974. | 152477128 | c.23682G>T | p.E7894D | missense | 0.00000824 | ●●●●●● |
| 1975. | 152477213 | c.23597A>G | p.E7866G | missense | 0.00000824 | ●●●●●● |
| 1976. | 152510412 | c.23063G>C | p.R7688T | missense | 0.00000824 | ●●●●●● |
| 1977. | 152529244 | c.22474C>T | p.R7492C | missense | 0.00000824 | ●●●●●● |
| 1978. | 152534879 | c.22149T>A | p.F7383L | missense | 0.00000824 | ●●●●●● |
| 1979. | 152536156 | c.22018G>C | p.D7340H | missense | 0.00000824 | ●●●●●● |
| 1980. | 152540173 | c.21796G>C | p.E7266Q | missense | 0.00000824 | ●●●●●● |
| 1981. | 152551734 | c.20930A>C | p.Q6977P | missense | 0.00000824 | ●●●●●● |
| 1982. | 152554938 | c.20477C>A | p.A6826D | missense | 0.00000824 | ●●●●●● |
| 1983. | 152555825 | c.20294G>T | p.R6765L | missense | 0.00000824 | ●●●●●● |
| 1984. | 152557987 | c.19951G>A | p.E6651K | missense | 0.00000824 | ●●●●●● |
| 1985. | 152560711 | c.19811A>G | p.K6604R | missense | 0.00000824 | ●●●●●● |
| 1986. | 152565728 | c.19423C>T | p.R6475C | missense | 0.00000824 | ●●●●●● |
| 1987. | 152589258 | c.18535T>C | p.S6179P | missense | 0.00000824 | ●●●●●● |
| 1988. | 152621903 | c.17342G>A | p.R5781H | missense | 0.00000824 | ●●●●●● |
| 1989. | 152629682 | c.17075A>G | p.D5692G | missense | 0.00000824 | ●●●●●● |
| 1990. | 152629743 | c.17014T>A | p.Y5672N | missense | 0.00000824 | ●●●●●● |
| 1991. | 152644727 | c.15590T>C | p.L5197S | missense | 0.00000824 | ●●●●●● |
| 1992. | 152647615 | c.14896G>A | p.E4966K | missense | 0.00000824 | ●●●●●● |
| 1993. | 152651243 | c.14364G>C | p.Q4788H | missense | 0.00000824 | ●●●●●● |
| 1994. | 152651359 | c.14248C>G | p.L4750V | missense | 0.00000824 | ●●●●●● |
| 1995. | 152652244 | c.13363G>C | p.E4455Q | missense | 0.00000824 | ●●●●●● |
| 1996. | 152652492 | c.13115A>G | p.Q4372R | missense | 0.00000824 | ●●●●●● |
| 1997. | 152652652 | c.12955A>G | p.I4319V | missense | 0.00000824 | ●●●●●● |
| 1998. | 152655204 | c.12520T>A | p.C4174S | missense | 0.00000824 | ●●●●●● |
| 1999. | 152660405 | c.12109G>A | p.A4037T | missense | 0.00000824 | ●●●●●● |
| 2000. | 152671880 | c.11561A>G | p.H3854R | missense | 0.00000824 | ●●●●●● |
| 2001. | 152673248 | c.11449A>C | p.I3817L | missense | 0.00000824 | ●●●●●● |
| 2002. | 152690694 | c.9584G>C | p.W3195S | missense | 0.00000824 | ●●●●●● |
| 2003. | 152706910 | c.8572G>A | p.E2858K | missense | 0.00000824 | ●●●●●● |
| 2004. | 152706918 | c.8564C>A | p.A2855E | missense | 0.00000824 | ●●●●●● |
| 2005. | 152708273 | c.8442G>T | p.E2814D | missense | 0.00000824 | ●●●●●● |
| 2006. | 152718060 | c.7427A>G | p.E2476G | missense | 0.00000824 | ●●●●●● |
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| 2906. | 152832165 | c.404C>G | p.T135S | missense | 0.00000824 | ●●●●●● |
| 2907. | 152832171 | c.398T>C | p.M133T | missense | 0.00000824 | ●●●●●● |
| 2908. | 152832193 | c.376C>T | p.P126S | missense | 0.00000824 | ●●●●●● |
| 2909. | 152832208 | c.361A>G | p.I121V | missense | 0.00000824 | ●●●●●● |
| 2910. | 152861116 | c.108G>C | p.W36C | missense | 0.00000824 | ●●●●●● |
| 2911. | 152861144 | c.80T>C | p.I27T | 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.