PDIA2 inframe variants in ExAC

PDIA2 gene summary
PDIA2 variants in

The table below lists the PDIA2 inframe 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. 333193 c.24_25insCTG p.Val8_Leu9insLeu inframe 0.00414097●●●●●●
2. 333194 c.25_27delCTG p.Leu12del inframe 0.00107489●●●●●●
3. 334726 c.474_476delGGA p.Glu159del inframe 0.00012995●●●●●●
4. 334922 c.585_593dupGGACGCCCT p.Asp196_Leu198dup inframe 0.00012563●●●●●●
5. 336908 c.1496_1507delCGGAGGAGCCCC p.Glu500_Pro503del inframe 0.00006407●●●●●●
6. 333194 c.25_30dupCTGCTG p.Leu9_Leu10dup inframe 0.00005286●●●●●●
7. 334420 c.233_235delCCC p.Pro79del inframe 0.00003457●●●●●●
8. 333327 c.158_159insCCTGGC p.Gly53_Leu54insLeuAla inframe 0.00002627●●●●●●
9. 333194 c.25_30delCTGCTG p.Leu10_Leu11del inframe 0.00001762●●●●●●
10. 334922 c.585_593delGGACGCCCT p.Asp196_Leu198del inframe 0.00001675●●●●●●
11. 334772 c.520_522delGTG p.Val174del inframe 0.00001257●●●●●●
12. 336845 c.1433_1434insCAAAAG p.Tyr478_Lys479insLysSer inframe 0.00000986●●●●●●
13. 334915 c.578_579insGGCCCA p.Leu193_Ala194insAlaGln inframe 0.00000838●●●●●●
14. 336460 c.1227_1235delGTTTGTCAA p.Phe410_Lys412del inframe 0.00000837●●●●●●

* 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.