Data Browser v2

Examples - Gene: TBK1, Region: 21:33032075-33040899, Variant: 14-21162090-G-A


Gene: PFN1 Variant Count: 9   RVIS Percentile: 47.7884%

Variant Gene Transcript AA Change Consequence Allele Count Sample Count MAF CADD Score
17-4849219-G-A PFN1 ENST00000225655 133S synonymous 3 2636 5.69E-4 0.708
17-4849267-T-A PFN1 ENST00000225655 E117D missense 8 2636 0.0015 25.5
17-4849268-T-C PFN1 ENST00000225655 E117G missense 8 2636 0.0015 24.6
17-4849284-G-A PFN1 ENST00000225655 112L synonymous 200 2626 0.0381 5.093
17-4849288-T-C PFN1 ENST00000225655 110L synonymous 1 2634 1.898E-4 3.922
17-4849291-C-T PFN1 ENST00000225655 109T synonymous; splice region 2 2636 3.794E-4 13.39
17-4849975-C-T PFN1 ENST00000225655 91K synonymous 1 2638 1.895E-4 14.22
17-4850037-A-C PFN1 ENST00000225655 C71G missense 1 2638 1.895E-4 24.3
17-4851633-G-A PFN1 ENST00000225655 19D synonymous 1 2587 1.933E-4 11.25