PDIA2 truncating variants in ExAC

PDIA2 gene summary
PDIA2 variants in

The table below lists the PDIA2 truncating 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. 336888 c.1476_1477insA p.Asn493LysfsTer64 frameshift 0.01059035●●●●●●
2. 334920 c.583C>T p.Q195X nonsense 0.00896373●●●●●●
3. 336701 c.1388_1389delCT p.Leu464GlnfsTer13 frameshift 0.00653938●●●●●●
4. 335584 c.1000_1001insCCACTCT p.Arg337HisfsTer8 frameshift 0.00069410●●●●●●
5. 336660 c.1347_1348insCCAACGAGCTGGATGCCACA p.Ala450ProfsTer33 frameshift 0.00045283●●●●●●
6. 336659 c.1346_1347insA p.Ala450GlyfsTer28 frameshift 0.00045261●●●●●●
7. 336846 c.1434C>G p.Y478X nonsense 0.00015833●●●●●●
8. 336381 c.1148_1149delCT p.Pro383ArgfsTer8 frameshift 0.00013423●●●●●●
9. 335311 c.796-1G>A essential splice site 0.00013423●●●●●●
10. 336463 c.1230_1233delTGTC p.Phe410LeufsTer65 frameshift 0.00010045●●●●●●
11. 337067 c.1534-2A>G essential splice site 0.00006732●●●●●●
12. 336946 c.1533+1G>T essential splice site 0.00006379●●●●●●
13. 336596 c.1283G>A p.W428X nonsense 0.00005868●●●●●●
14. 336474 c.1240+1G>T essential splice site 0.00005860●●●●●●
15. 334386 c.200-1G>C essential splice site 0.00005257●●●●●●
16. 337112 c.1577A>T p.Ter526LeuextTer26 nonsense 0.00004215●●●●●●
17. 334694 c.442C>T p.R148X nonsense 0.00004052●●●●●●
18. 336382 c.1149delT p.Asp384IlefsTer92 frameshift 0.00003356●●●●●●
19. 337104 c.1569delG p.Glu524AsnfsTer30 frameshift 0.00002527●●●●●●
20. 336403 c.1170_1171insA p.Thr392AspfsTer8 frameshift 0.00002513●●●●●●
21. 336913 c.1501G>T p.E501X nonsense 0.00002153●●●●●●
22. 334518 c.331G>T p.E111X nonsense 0.00002006●●●●●●
23. 336847 c.1435delA p.Ser480AlafsTer74 frameshift 0.00001979●●●●●●
24. 333246 c.77_78insGAGGAGCCCCTCG p.Pro34LeufsTer81 frameshift 0.00001806●●●●●●
25. 336699 c.1386_1395delTACTCTCAAG p.Leu464SerfsTer9 frameshift 0.00001692●●●●●●
26. 337113 c.1578G>C p.Ter526TyrextTer26 nonsense 0.00001686●●●●●●
27. 337068 c.1534-1G>C essential splice site 0.00001683●●●●●●
28. 336368 c.1135C>T p.Q379X nonsense 0.00001682●●●●●●
29. 334966 c.629_632delTCTT p.Phe211SerfsTer83 frameshift 0.00001670●●●●●●
30. 334658 c.407-1G>A essential splice site 0.00001172●●●●●●
31. 334794 c.540+2T>C essential splice site 0.00001115●●●●●●
32. 334503 c.316_317insGCGAGCTG p.Glu110SerfsTer8 frameshift 0.00001096●●●●●●
33. 336898 c.1486_1487insT p.Leu497AlafsTer60 frameshift 0.00001060●●●●●●
34. 336897 c.1485_1486insAA p.Val496LysfsTer59 frameshift 0.00001059●●●●●●
35. 336892 c.1480_1481delGG p.Gly495ArgfsTer61 frameshift 0.00001053●●●●●●
36. 334594 c.406+1G>A essential splice site 0.00000957●●●●●●
37. 333229 c.60G>A p.W20X nonsense 0.00000955●●●●●●
38. 333233 c.64C>T p.Q22X nonsense 0.00000938●●●●●●
39. 334556 c.369delC p.Arg124AlafsTer44 frameshift 0.00000920●●●●●●
40. 333366 c.197_198delTC p.Phe66LeufsTer44 frameshift 0.00000916●●●●●●
41. 335695 c.1111C>T p.Q371X nonsense 0.00000914●●●●●●
42. 333345 c.176_177insCCCTG p.Leu63ProfsTer54 frameshift 0.00000892●●●●●●
43. 333338 c.169_170insG p.Glu58GlyfsTer53 frameshift 0.00000884●●●●●●
44. 333258 c.89C>A p.S30X nonsense 0.00000882●●●●●●
45. 336352 c.1120-1G>C essential splice site 0.00000848●●●●●●
46. 335379 c.863delC p.Ala288ValfsTer7 frameshift 0.00000848●●●●●●
47. 337104 c.1569dupG p.Glu524GlyfsTer33 frameshift 0.00000842●●●●●●
48. 337102 c.1567G>T p.E523X nonsense 0.00000842●●●●●●
49. 335148 c.743C>A p.S248X nonsense 0.00000840●●●●●●
50. 335138 c.733_740delGGGGATCT p.Gly245ValfsTer73 frameshift 0.00000840●●●●●●
51. 335510 c.926delT p.Leu309ArgfsTer69 frameshift 0.00000839●●●●●●
52. 336622 c.1309delG p.Asp437ThrfsTer39 frameshift 0.00000838●●●●●●
53. 335638 c.1054delG p.Gly353AlafsTer25 frameshift 0.00000838●●●●●●
54. 336408 c.1175_1176insT p.Leu393ProfsTer7 frameshift 0.00000838●●●●●●
55. 336564 c.1251G>A p.W417X nonsense 0.00000838●●●●●●
56. 336446 c.1213G>T p.E405X nonsense 0.00000837●●●●●●
57. 336439 c.1206_1207delTT p.Phe403Ter frameshift 0.00000837●●●●●●
58. 336473 c.1240_1240+1delTG essential splice site 0.00000837●●●●●●
59. 335554 c.970C>T p.Q324X nonsense 0.00000836●●●●●●

* 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.