PTBP1 variants in ExAC

PTBP1 gene summary
PTBP1 variants in

The table below lists the PTBP1 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. 806559 c.1119+3A>G splice site 0.00767404●●●●●●
2. 804613 c.517G>A p.A173T missense 0.00145294●●●●●●
3. 808351 c.1154-9C>T splice site 0.00100515●●●●●●
4. 806556 c.1119G>A p.E373E splice site 0.00083045●●●●●●
5. 804442 c.435+4C>T splice site 0.00077817●●●●●●
6. 805158 c.863C>T p.S288L missense 0.00074490●●●●●●
7. 804080 c.160G>A p.A54T missense 0.00043783●●●●●●
8. 810598 c.1519G>A p.V507I missense 0.00023194●●●●●●
9. 804825 c.607-4G>A splice site 0.00021494●●●●●●
10. 806458 c.1021_1022insCGG p.Ala346dup inframe 0.00015187●●●●●●
11. 808361 c.1155C>T p.G385G splice site 0.00013415●●●●●●
12. 804086 c.166G>A p.V56I missense 0.00013217●●●●●●
13. 803625 c.104C>T p.S35L missense 0.00012375●●●●●●
14. 797504 c.7G>A p.G3S missense 0.00010708●●●●●●
15. 804599 c.503C>T p.A168V missense 0.00009561●●●●●●
16. 804602 c.506C>T p.A169V missense 0.00009535●●●●●●
17. 808547 c.1248C>T splice site 0.00007821●●●●●●
18. 806459 c.1022_1024delCGG p.Ala348del inframe 0.00007087●●●●●●
19. 808438 c.1232A>G p.N411S missense 0.00007000●●●●●●
20. 804601 c.505G>C p.A169P missense 0.00006933●●●●●●
21. 806510 c.1073C>T p.A358V missense 0.00006166●●●●●●
22. 804437 c.434C>T p.A145V missense 0.00005976●●●●●●
23. 804699 c.603C>G p.H201Q missense 0.00005842●●●●●●
24. 805524 c.925G>C p.A309P missense 0.00005802●●●●●●
25. 808428 c.1222G>T p.A408S missense 0.00005400●●●●●●
26. 804583 c.487G>T p.A163S missense 0.00005244●●●●●●
27. 804608 c.512T>C p.V171A missense 0.00005161●●●●●●
28. 804371 c.368G>C p.G123A missense 0.00005015●●●●●●
29. 805079 c.784A>C p.S262R missense 0.00004954●●●●●●
30. 803644 c.115+8C>T splice site 0.00004954●●●●●●
31. 804572 c.476C>T p.S159L missense 0.00004423●●●●●●
32. 804219 c.288+11C>T splice site 0.00004215●●●●●●
33. 804298 c.295A>G p.I99V missense 0.00004193●●●●●●
34. 805186 c.891C>T p.F297F splice site 0.00004162●●●●●●
35. 805088 c.793G>A p.V265I missense 0.00004127●●●●●●
36. 808570 c.1271A>G p.K424R missense 0.00003574●●●●●●
37. 808668 c.1369G>A p.G457S missense 0.00003441●●●●●●
38. 805191 c.892+4A>C splice site 0.00003336●●●●●●
39. 804947 c.717+8G>C splice site 0.00003327●●●●●●
40. 803634 c.113C>T p.A38V missense 0.00003301●●●●●●
41. 803603 c.82C>T p.P28S missense 0.00003299●●●●●●
42. 803594 c.73A>G p.T25A missense 0.00003299●●●●●●
43. 808578 c.1279G>A p.G427R missense 0.00003092●●●●●●
44. 808542 c.1247-4C>T splice site 0.00002844●●●●●●
45. 804563 c.467C>T p.S156L missense 0.00002694●●●●●●
46. 808672 c.1373A>G p.N458S missense 0.00002576●●●●●●
47. 804438 c.435G>A splice site 0.00002561●●●●●●
48. 808549 c.1250T>G p.M417R missense 0.00002522●●●●●●
49. 804368 c.365G>A p.R122H missense 0.00002507●●●●●●
50. 810750 c.1598C>T p.A533V missense 0.00002499●●●●●●
51. 805580 c.970+11G>A splice site 0.00002490●●●●●●
52. 805575 c.970+6C>G splice site 0.00002489●●●●●●
53. 805539 c.940C>T p.P314S missense 0.00002487●●●●●●
54. 805513 c.914C>T p.A305V missense 0.00002487●●●●●●
55. 805008 c.718-5C>T splice site 0.00002482●●●●●●
56. 799424 c.20A>T p.D7V missense 0.00002481●●●●●●
57. 799427 c.23T>C p.I8T missense 0.00002481●●●●●●
58. 805127 c.832C>T p.P278S missense 0.00002478●●●●●●
59. 803611 c.90C>G p.I30M missense 0.00002475●●●●●●
60. 806400 c.971-8delT splice site 0.00002248●●●●●●
61. 808593 c.1294A>C p.I432L missense 0.00002241●●●●●●
62. 806413 c.976T>C p.S326P missense 0.00002128●●●●●●
63. 806480 c.1043C>T p.A348V missense 0.00002058●●●●●●
64. 806469 c.1032_1033insGCA p.Ala344dup inframe 0.00002052●●●●●●
65. 806494 c.1057G>A p.A353T missense 0.00002050●●●●●●
66. 806464 c.1027_1038delGCGGCGGCAGCT p.Ala343_Ala346del inframe 0.00002041●●●●●●
67. 806466 c.1029_1038delGGCGGCAGCTinsGGCGGCAGCGGCAGCT p.Ala345_Ala346dup inframe 0.00002040●●●●●●
68. 808563 c.1264G>C p.G422R missense 0.00002035●●●●●●
69. 806455 c.1018C>T p.P340S missense 0.00002016●●●●●●
70. 804547 c.451C>G p.L151V missense 0.00001855●●●●●●
71. 808463 c.1246+11G>A splice site 0.00001798●●●●●●
72. 808728 c.1429C>T p.P477S missense 0.00001767●●●●●●
73. 808572 c.1273C>G p.L425V missense 0.00001743●●●●●●
74. 804590 c.494C>G p.A165G missense 0.00001742●●●●●●
75. 804435 c.432G>C p.Q144H missense 0.00001707●●●●●●
76. 810786 c.1634A>G p.N545S missense 0.00001690●●●●●●
77. 810773 c.1621G>A p.D541N missense 0.00001679●●●●●●
78. 797508 c.8+3G>A splice site 0.00001679●●●●●●
79. 804334 c.331G>C p.V111L missense 0.00001673●●●●●●
80. 804370 c.367G>A p.G123S missense 0.00001671●●●●●●
81. 804387 c.384C>G p.I128M missense 0.00001671●●●●●●
82. 805187 c.892G>A p.G298S missense 0.00001665●●●●●●
83. 810738 c.1586A>C p.E529A missense 0.00001664●●●●●●
84. 805179 c.884C>T p.A295V missense 0.00001661●●●●●●
85. 799449 c.39+6C>T splice site 0.00001655●●●●●●
86. 804122 c.202A>G p.I68V missense 0.00001655●●●●●●
87. 805008 c.718-5C>G splice site 0.00001655●●●●●●
88. 804045 c.125A>G p.N42S missense 0.00001654●●●●●●
89. 805015 c.720G>A splice site 0.00001654●●●●●●
90. 799432 c.28G>A p.V10I missense 0.00001654●●●●●●
91. 804908 c.686C>T p.A229V missense 0.00001653●●●●●●
92. 804110 c.190C>T p.R64W missense 0.00001653●●●●●●
93. 805125 c.830G>A p.R277H missense 0.00001652●●●●●●
94. 803568 c.47C>T p.S16F missense 0.00001651●●●●●●
95. 803572 c.51C>A p.D17E missense 0.00001650●●●●●●
96. 803600 c.79G>A p.G27R missense 0.00001650●●●●●●
97. 808451 c.1245G>A splice site 0.00001511●●●●●●
98. 797502 c.5A>G p.D2G missense 0.00001444●●●●●●
99. 808434 c.1228G>A p.G410S missense 0.00001387●●●●●●
100. 808429 c.1223C>G p.A408G missense 0.00001368●●●●●●
101. 808429 c.1223C>T p.A408V missense 0.00001368●●●●●●
102. 808431 c.1225G>A p.D409N missense 0.00001363●●●●●●
103. 808407 c.1201G>A p.E401K missense 0.00001330●●●●●●
104. 808590 c.1291C>T p.R431C missense 0.00001158●●●●●●
105. 806561 c.1119+5G>A splice site 0.00001136●●●●●●
106. 806561 c.1119+5G>T splice site 0.00001136●●●●●●
107. 808768 c.1463+6T>G splice site 0.00001117●●●●●●
108. 806404 c.971-4C>T splice site 0.00001102●●●●●●
109. 808599 c.1300C>T p.L434F missense 0.00001086●●●●●●
110. 806551 c.1114C>T p.P372S missense 0.00001086●●●●●●
111. 806416 c.979G>C p.V327L missense 0.00001057●●●●●●
112. 806422 c.985A>C p.N329H missense 0.00001038●●●●●●
113. 806525 c.1088C>G p.S363C missense 0.00001032●●●●●●
114. 806510 c.1073C>G p.A358G missense 0.00001028●●●●●●
115. 806431 c.994G>A p.G332S missense 0.00001026●●●●●●
116. 806479 c.1042G>A p.A348T missense 0.00001026●●●●●●
117. 806518 c.1081G>A p.G361R missense 0.00001025●●●●●●
118. 806506 c.1069C>A p.L357M missense 0.00001021●●●●●●
119. 806500 c.1063C>T p.P355S missense 0.00001021●●●●●●
120. 806467 c.1030_1038delGCGGCAGCT p.Ala344_Ala346del inframe 0.00001020●●●●●●
121. 806475 c.1038_1039insGCGGCAGCT p.Ala344_Ala346dup inframe 0.00001020●●●●●●
122. 806491 c.1054A>C p.I352L missense 0.00001018●●●●●●
123. 806434 c.997G>A p.A333T missense 0.00001018●●●●●●
124. 806438 c.1001T>A p.L334Q missense 0.00001013●●●●●●
125. 806459 c.1022_1030delCGGCGGCGG p.Ala344_Ala346del inframe 0.00001012●●●●●●
126. 806459 c.1022_1036delCGGCGGCGGCGGCAG p.Ala342_Ala346del inframe 0.00001012●●●●●●
127. 808613 c.1314G>T p.Q438H missense 0.00001006●●●●●●
128. 806449 c.1012G>A p.A338T missense 0.00001002●●●●●●
129. 804527 c.436-5C>T splice site 0.00000971●●●●●●
130. 804528 c.436-4A>C splice site 0.00000969●●●●●●
131. 808629 c.1330C>T p.R444C missense 0.00000940●●●●●●
132. 804566 c.470T>C p.V157A missense 0.00000891●●●●●●
133. 808726 c.1427T>A p.F476Y missense 0.00000878●●●●●●
134. 810823 c.1671C>G p.I557M missense 0.00000877●●●●●●
135. 804581 c.485T>G p.L162R missense 0.00000875●●●●●●
136. 804580 c.484C>G p.L162V missense 0.00000875●●●●●●
137. 804584 c.488C>T p.A163V missense 0.00000873●●●●●●
138. 804584 c.488C>G p.A163G missense 0.00000873●●●●●●
139. 804588 c.492G>C p.L164F missense 0.00000872●●●●●●
140. 804586 c.490T>G p.L164V missense 0.00000872●●●●●●
141. 804590 c.494C>T p.A165V missense 0.00000871●●●●●●
142. 804444 c.435+6T>G splice site 0.00000864●●●●●●
143. 804607 c.511G>A p.V171M missense 0.00000860●●●●●●
144. 808680 c.1381C>A p.L461M missense 0.00000858●●●●●●
145. 804614 c.518C>T p.A173V missense 0.00000854●●●●●●
146. 810797 c.1645C>T p.R549W missense 0.00000854●●●●●●
147. 804617 c.521G>C p.G174A missense 0.00000852●●●●●●
148. 804623 c.527C>T p.A176V missense 0.00000850●●●●●●
149. 810791 c.1639C>T p.H547Y missense 0.00000849●●●●●●
150. 810536 c.1464-7C>A splice site 0.00000846●●●●●●
151. 804631 c.535G>A p.G179R missense 0.00000846●●●●●●
152. 810537 c.1464-6C>T splice site 0.00000845●●●●●●
153. 804421 c.418A>G p.S140G missense 0.00000843●●●●●●
154. 804418 c.415G>A p.D139N missense 0.00000842●●●●●●
155. 804640 c.544C>T p.P182S missense 0.00000842●●●●●●
156. 810544 c.1465C>T p.P489S missense 0.00000839●●●●●●
157. 810543 c.1464G>A p.P488P splice site 0.00000839●●●●●●
158. 810770 c.1618C>T p.H540Y missense 0.00000838●●●●●●
159. 804322 c.319G>A p.A107T missense 0.00000838●●●●●●
160. 804329 c.326C>T p.T109I missense 0.00000837●●●●●●
161. 804188 c.268A>T p.M90L missense 0.00000837●●●●●●
162. 804341 c.338A>G p.Y113C missense 0.00000836●●●●●●
163. 804181 c.261_262insCT p.Leu89SerfsTer2 frameshift 0.00000836●●●●●●
164. 804709 c.606+7T>C splice site 0.00000835●●●●●●
165. 804679 c.583G>T p.V195L missense 0.00000835●●●●●●
166. 804379 c.376A>G p.I126V missense 0.00000835●●●●●●
167. 804685 c.589C>G p.L197V missense 0.00000835●●●●●●
168. 804707 c.606+5G>A splice site 0.00000834●●●●●●
169. 810755 c.1603A>G p.I535V missense 0.00000833●●●●●●
170. 810556 c.1477G>A p.E493K missense 0.00000833●●●●●●
171. 810752 c.1600C>G p.L534V missense 0.00000833●●●●●●
172. 810740 c.1588G>T p.A530S missense 0.00000832●●●●●●
173. 810558 c.1479G>T p.E493D missense 0.00000832●●●●●●
174. 810722 c.1570A>C p.M524L missense 0.00000831●●●●●●
175. 810565 c.1486C>T p.L496F missense 0.00000831●●●●●●
176. 805178 c.883G>A p.A295T missense 0.00000831●●●●●●
177. 805175 c.880G>A p.A294T missense 0.00000830●●●●●●
178. 804142 c.222A>T p.E74D missense 0.00000830●●●●●●
179. 810687 c.1542-7C>T splice site 0.00000830●●●●●●
180. 810572 c.1493T>C p.V498A missense 0.00000830●●●●●●
181. 804135 c.215A>G p.E72G missense 0.00000829●●●●●●
182. 810587 c.1508A>G p.N503S missense 0.00000829●●●●●●
183. 805554 c.955A>C p.I319L missense 0.00000829●●●●●●
184. 805495 c.896C>T p.A299V missense 0.00000829●●●●●●
185. 805557 c.958C>T p.P320S missense 0.00000829●●●●●●
186. 805510 c.911C>T p.S304L missense 0.00000829●●●●●●
187. 804132 c.212C>T p.T71M missense 0.00000829●●●●●●
188. 805564 c.965C>T p.A322V missense 0.00000829●●●●●●
189. 810583 c.1504A>G p.S502G missense 0.00000829●●●●●●
190. 805170 c.875C>G p.T292S missense 0.00000829●●●●●●
191. 810619 c.1540C>A p.Q514K missense 0.00000828●●●●●●
192. 804033 c.116-3C>T splice site 0.00000828●●●●●●
193. 804124 c.204C>G p.I68M missense 0.00000828●●●●●●
194. 810595 c.1516G>A p.V506I missense 0.00000828●●●●●●
195. 804120 c.200C>G p.P67R missense 0.00000828●●●●●●
196. 804036 c.116C>G p.A39G missense 0.00000828●●●●●●
197. 810602 c.1523A>G p.K508R missense 0.00000828●●●●●●
198. 804122 c.202A>T p.I68F missense 0.00000828●●●●●●
199. 799410 c.9-3C>G splice site 0.00000827●●●●●●
200. 805014 c.719C>T p.S240L missense 0.00000827●●●●●●
201. 799439 c.35C>T p.T12I missense 0.00000827●●●●●●
202. 805010 c.718-3C>T splice site 0.00000827●●●●●●
203. 804116 c.196C>T p.L66F missense 0.00000827●●●●●●
204. 799402 c.9-11_9-8delTCTC splice site 0.00000827●●●●●●
205. 799425 c.21_22insA p.Ile8AsnfsTer10 frameshift 0.00000827●●●●●●
206. 799429 c.25G>A p.A9T missense 0.00000827●●●●●●
207. 799420 c.16C>G p.P6A missense 0.00000827●●●●●●
208. 805006 c.718-7C>A splice site 0.00000827●●●●●●
209. 805146 c.851A>C p.D284A missense 0.00000827●●●●●●
210. 799451 c.39+8C>T splice site 0.00000827●●●●●●
211. 805021 c.726C>G p.D242E missense 0.00000827●●●●●●
212. 804046 c.126T>G p.N42K missense 0.00000827●●●●●●
213. 799406 c.9-7T>A splice site 0.00000827●●●●●●
214. 804916 c.694G>C p.V232L missense 0.00000827●●●●●●
215. 805155 c.860C>T p.P287L missense 0.00000827●●●●●●
216. 799426 c.22A>G p.I8V missense 0.00000827●●●●●●
217. 799409 c.9-4A>G splice site 0.00000827●●●●●●
218. 804922 c.700G>A p.A234T missense 0.00000827●●●●●●
219. 804040 c.120C>G p.N40K missense 0.00000827●●●●●●
220. 799432 c.28G>C p.V10L missense 0.00000827●●●●●●
221. 804078 c.158G>A p.S53N missense 0.00000826●●●●●●
222. 805062 c.767A>T p.D256V missense 0.00000826●●●●●●
223. 805110 c.815G>A p.S272N missense 0.00000826●●●●●●
224. 803642 c.115+6G>T splice site 0.00000826●●●●●●
225. 804081 c.161C>T p.A54V missense 0.00000826●●●●●●
226. 805124 c.829C>T p.R277C missense 0.00000826●●●●●●
227. 804078 c.158G>T p.S53I missense 0.00000826●●●●●●
228. 803643 c.115+7C>T splice site 0.00000826●●●●●●
229. 803554 c.40-7C>T splice site 0.00000826●●●●●●
230. 805056 c.761G>A p.R254H missense 0.00000826●●●●●●
231. 804087 c.167T>A p.V56D missense 0.00000826●●●●●●
232. 805112 c.817C>T p.R273C missense 0.00000826●●●●●●
233. 804057 c.137A>G p.K46R missense 0.00000826●●●●●●
234. 805060 c.765C>G p.I255M missense 0.00000826●●●●●●
235. 804089 c.169C>T p.P57S missense 0.00000826●●●●●●
236. 804881 c.659A>G p.N220S missense 0.00000825●●●●●●
237. 803640 c.115+4A>T splice site 0.00000825●●●●●●
238. 804859 c.637A>G p.I213V missense 0.00000825●●●●●●
239. 803583 c.62C>G p.S21C missense 0.00000825●●●●●●
240. 803599 c.78C>G p.N26K missense 0.00000825●●●●●●
241. 803614 c.93_94insAGC p.Met31_Ser32insSer inframe 0.00000825●●●●●●
242. 803628 c.107C>T p.A36V missense 0.00000825●●●●●●
243. 807906 c.1153+4T>C splice site 0.00000824●●●●●●
244. 807861 c.1120-8C>A splice site 0.00000824●●●●●●
245. 807901 c.1152C>A p.F384L 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.