GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
HPS6 G211Ainsufficiently evaluated not reviewed, f=0.009unknown var-GS19735-1100-36-ASM
HPS6 L233Rinsufficiently evaluated not reviewed, f=0.007unknown CGI sample GS01175-DNA_D01 from PGP sample 31286272
var-GS20509-1100-36-ASM
HPS6 R265Shiftinsufficiently evaluated not reviewed, f=0.009unknown var-GS18555-1100-36-ASM
HPS6 V347Iinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_D01 from PGP sample 31286272
HPS6 E484Shiftinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_D01 from PGP sample 31286272
HPS6 A486Shiftinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_H01 from PGP sample 94797469
CGI sample GS01173-DNA_A07 from PGP sample 96240009
HPS6 A597Shiftinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B04 from PGP sample 88590671
HPS6 A597Pinsufficiently evaluated not reviewed, f=0.009unknown var-GS19669-1100-36-ASM
HPS6 G599Shiftinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B04 from PGP sample 88590671
HPS6 R606Cinsufficiently evaluated noneunknown
HPS6 T710Ainsufficiently evaluated not reviewed, f=0.008unknown var-GS19025-1100-36-ASM
HPS6 G717Rinsufficiently evaluated not reviewedunknown
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Total results: 12

Gene search

"GENE" or "GENE A123C":

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