GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
PNPLA6 V19Ainsufficiently evaluated not reviewed, f=0.001unknown var-GS18942-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034
PNPLA6 V22Linsufficiently evaluated not reviewed, f=0.015unknown var-GS19017-1100-36-ASM
PNPLA6 L194Pinsufficiently evaluated not reviewedunknown
PNPLA6 A364Pinsufficiently evaluated none, f=0.176unknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01173-DNA_C02 from PGP sample 10366372 (hom)
CGI sample GS01175-DNA_G03 from PGP sample 92527586
hu34D5B9 exome
hu3215A7 build 36 substitution variants
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
CGI sample GS000005532
var-GS12004-1100-36-ASM
CGI sample GS00253-DNA_G01_200_37
var-GS19701-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS10851-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
var-GS19648-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom)
CGI sample GS01175-DNA_D05 from PGP sample 1205491
var-GS20502-1100-36-ASM
CGI sample GS00253-DNA_D01_200_37
CGI sample GS00253-DNA_C01_200_37
var-GS19670-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01175-DNA_F02 from PGP sample 95788191
var-GS20509-1100-36-ASM
var-GS06985-1100-36-ASM
PNPLA6 R385Ginsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B01 from PGP sample 86206034
PNPLA6 R394Sinsufficiently evaluated not reviewedunknown
PNPLA6 A403Pinsufficiently evaluated not reviewedunknown
PNPLA6 A412Pinsufficiently evaluated not reviewedunknown
PNPLA6 P447Linsufficiently evaluated not reviewed, f=0.005unknown PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
PNPLA6 M1012Vinsufficiently evaluated pathogenicunknown
PNPLA6 Q1163Hinsufficiently evaluated not reviewedunknown
PNPLA6 G1322Sinsufficiently evaluated not reviewed, f=0.006unknown var-GS19648-1100-36-ASM
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Total results: 12

Gene search

"GENE" or "GENE A123C":

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