GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
PNP G51Sinsufficiently evaluated not reviewed, f=0.201unknown var-GS19025-1100-36-ASM
CGI sample GS01669-DNA_F02 from PGP sample 40767107
hu34D5B9 exome
var-GS18942-1100-36-ASM (hom)
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS19020-1100-36-ASM
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS19735-1100-36-ASM
CGI sample GS01175-DNA_B05 from PGP sample 83494370
CGI sample GS000005532
var-GS12004-1100-36-ASM
CGI sample GS01669-DNA_B03 from PGP sample 14427241
var-GS19701-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)
CGI sample GS00253-DNA_A01_200_37
var-GS19834-1100-36-ASM (hom)
var-GS19239-1100-36-ASM
var-GS19648-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS00253-DNA_F01_200_37
var-GS19240-1100-36-ASM
var-GS18947-1100-36-ASM
var-GS18505-1100-36-ASM
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS19026-1100-36-ASM
var-GS20509-1100-36-ASM
PNP V217Iinsufficiently evaluated not reviewed, f=0.007unknown var-GS19020-1100-36-ASM
PNPLA1 E15Kinsufficiently evaluated not reviewed, f=0.008unknown var-GS19017-1100-36-ASM
PNPLA1 A136Tinsufficiently evaluated none, f=0.023unknown var-GS18555-1100-36-ASM
var-GS18947-1100-36-ASM (hom)
PNPLA1 A145Tinsufficiently evaluated noneunknown
PNPLA1 E154Kinsufficiently evaluated not reviewed, f=0.008unknown var-GS19649-1100-36-ASM
PNPLA1 E193Ginsufficiently evaluated none, f=0.109unknown var-GS18501-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18537-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS18508-1100-36-ASM
var-GS19026-1100-36-ASM
var-GS06985-1100-36-ASM
PNPLA1 C194Rinsufficiently evaluated not reviewedunknown
PNPLA1 E202Ginsufficiently evaluated noneunknown
PNPLA1 C203Rinsufficiently evaluated not reviewedunknown
PNPLA1 A231Tinsufficiently evaluated none, f=0.000unknown CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS01175-DNA_B01 from PGP sample 86206034
PNPLA1 E288Ginsufficiently evaluated none, f=0.081unknown CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370
CGI sample GS000005532
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_B07 from PGP sample 61499538
PNPLA1 C289Rinsufficiently evaluated not reviewedunknown
PNPLA1 L294Pinsufficiently evaluated none, f=0.016unknown var-GS19129-1100-36-ASM
PNPLA1 L303Pinsufficiently evaluated noneunknown
PNPLA1 P328Hinsufficiently evaluated none, f=0.349unknown hu3215A7 build 36 substitution variants
var-GS18942-1100-36-ASM
var-GS19020-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS18558-1100-36-ASM
var-GS19701-1100-36-ASM
var-GS19704-1100-36-ASM (hom)
var-GS10851-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS19649-1100-36-ASM
var-GS19648-1100-36-ASM (hom)
var-GS19129-1100-36-ASM
var-GS18526-1100-36-ASM
hu728FFF build 36 substitution variants (hom)
var-GS18505-1100-36-ASM
var-GS19670-1100-36-ASM (hom)
var-GS19026-1100-36-ASM
var-GS20509-1100-36-ASM
var-GS18940-1100-36-ASM
var-GS18956-1100-36-ASM
var-GS18517-1100-36-ASM
PNPLA1 P337Hinsufficiently evaluated noneunknown hu728FFF build 36 substitution variants (hom)
PNPLA1 L389Pinsufficiently evaluated none, f=0.009unknown
PNPLA1 T395Minsufficiently evaluated none, f=0.219unknown var-GS19025-1100-36-ASM
hu3215A7 build 36 substitution variants
var-GS19020-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS19735-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS10851-1100-36-ASM (hom)
var-GS19239-1100-36-ASM
var-GS19649-1100-36-ASM
var-GS20502-1100-36-ASM
var-GS19240-1100-36-ASM
hu728FFF build 36 substitution variants (hom)
var-GS19238-1100-36-ASM
var-GS06994-1100-36-ASM
var-GS18508-1100-36-ASM
var-GS20509-1100-36-ASM
var-GS06985-1100-36-ASM
PNPLA1 T404Minsufficiently evaluated noneunknown hu728FFF build 36 substitution variants (hom)
PNPLA1 P423Hinsufficiently evaluated none, f=0.358unknown CGI sample GS00253-DNA_E01_200_37
CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01175-DNA_H01 from PGP sample 94797469
CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370
CGI sample GS000005532
CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom)
CGI sample GS00253-DNA_G01_200_37
CGI sample GS01175-DNA_A04 from PGP sample 13272228
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604 (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom)
CGI sample GS00253-DNA_B01_200_37 (hom)
CGI sample GS01173-DNA_F06 from PGP sample 64191565 (hom)
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS00253-DNA_F01_200_37
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS00253-DNA_D01_200_37 (hom)
CGI sample GS00253-DNA_C01_200_37 (hom)
CGI sample GS00253-DNA_A02_200_37 (hom)
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
CGI sample GS01175-DNA_F02 from PGP sample 95788191
hu728FFF build 36 substitution variants (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199
PNPLA1 S427Pinsufficiently evaluated none, f=0.602unknown var-GS19025-1100-36-ASM (hom)
hu3215A7 build 36 substitution variants
var-GS18942-1100-36-ASM
var-GS19020-1100-36-ASM (hom)
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-ASM (hom)
var-GS18558-1100-36-ASM (hom)
var-GS19735-1100-36-ASM (hom)
var-GS07357-1100-36-ASM (hom)
var-GS19703-1100-36-ASM
hu232307 build 36 substitution variants (hom)
var-GS12004-1100-36-ASM (hom)
var-GS19701-1100-36-ASM
var-GS21767-1100-36-ASM (hom)
var-GS19704-1100-36-ASM
var-GS10851-1100-36-ASM (hom)
var-GS19834-1100-36-ASM (hom)
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM (hom)
var-GS18502-1100-36-ASM (hom)
var-GS19649-1100-36-ASM (hom)
var-GS18555-1100-36-ASM
var-GS19648-1100-36-ASM (hom)
var-GS18537-1100-36-ASM
var-GS19129-1100-36-ASM (hom)
var-GS19240-1100-36-ASM
var-GS18526-1100-36-ASM
hu728FFF build 36 substitution variants (hom)
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS06994-1100-36-ASM (hom)
var-GS18508-1100-36-ASM (hom)
var-GS19026-1100-36-ASM
var-GS20509-1100-36-ASM
var-GS18940-1100-36-ASM
var-GS06985-1100-36-ASM (hom)
var-GS18956-1100-36-ASM
var-GS18517-1100-36-ASM
PNPLA1 K431Ninsufficiently evaluated noneunknown
PNPLA1 S436Pinsufficiently evaluated noneunknown hu728FFF build 36 substitution variants (hom)
PNPLA1 K440Ninsufficiently evaluated noneunknown
PNPLA1 Y488Xinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_B02 from PGP sample 94378523
PNPLA1 T490Minsufficiently evaluated none, f=0.297unknown CGI sample GS01669-DNA_C07 from PGP sample 74521372 (hom)
CGI sample GS01173-DNA_C02 from PGP sample 10366372 (hom)
CGI sample GS01175-DNA_G03 from PGP sample 92527586
hu34D5B9 exome
CGI sample GS000006909 (hom)
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS00253-DNA_C01_200_37
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_B02 from PGP sample 94378523 (hom)
CGI sample GS01173-DNA_A07 from PGP sample 96240009
CGI sample GS01173-DNA_B07 from PGP sample 61499538
hu728FFF build 36 substitution variants (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199
PNPLA1 S522Pinsufficiently evaluated none, f=0.658unknown CGI sample GS01669-DNA_C07 from PGP sample 74521372 (hom)
CGI sample GS01173-DNA_C02 from PGP sample 10366372 (hom)
CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01669-DNA_F02 from PGP sample 40767107 (hom)
CGI sample GS01175-DNA_H01 from PGP sample 94797469 (hom)
hu34D5B9 exome (hom)
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) (hom)
CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
CGI sample GS000006909 (hom)
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_G01_200_37 (hom)
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom)
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS00253-DNA_C01_200_37
CGI sample GS00253-DNA_A02_200_37
CGI sample GS01175-DNA_F02 from PGP sample 95788191 (hom)
CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom)
CGI sample GS01173-DNA_B02 from PGP sample 94378523 (hom)
CGI sample GS01173-DNA_A07 from PGP sample 96240009 (hom)
CGI sample GS01173-DNA_B07 from PGP sample 61499538
hu728FFF build 36 substitution variants (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199
PNPLA1 K526Ninsufficiently evaluated none, f=0.011unknown
PNPLA2 P195Linsufficiently evaluated pathogenicunknown

(5 web hits)

PNPLA2 P265Sinsufficiently evaluated not reviewed, f=0.017unknown hu34D5B9 exome
var-GS12004-1100-36-ASM
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS01669-DNA_B05 from PGP sample 86486261
PNPLA2 S288Winsufficiently evaluated not reviewed, f=0.008unknown var-GS18526-1100-36-ASM
PNPLA2 Q289Xinsufficiently evaluated pathogenicunknown
PNPLA2 A413Tinsufficiently evaluated not reviewed, f=0.002unknown var-GS19020-1100-36-ASM
PNPLA2 L481Pinsufficiently evaluated none, f=0.706unknown

(11 web hits)

CGI sample GS01669-DNA_C07 from PGP sample 74521372 (hom)
CGI sample GS01173-DNA_C02 from PGP sample 10366372 (hom)
CGI sample GS01175-DNA_G03 from PGP sample 92527586 (hom)
CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01175-DNA_H01 from PGP sample 94797469 (hom)
hu34D5B9 exome (hom)
hu3215A7 build 36 substitution variants (hom)
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) (hom)
var-GS18942-1100-36-ASM
CGI sample GS01669-DNA_C05 from PGP sample 42408046 (hom)
var-GS19020-1100-36-ASM (hom)
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS19700-1100-36-ASM (hom)
var-GS18504-1100-36-ASM
var-GS18558-1100-36-ASM
var-GS19735-1100-36-ASM (hom)
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909 (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom)
var-GS07357-1100-36-ASM (hom)
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM (hom)
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom)
CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)
var-GS21767-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS10851-1100-36-ASM
CGI sample GS01173-DNA_D06 from PGP sample 69488604 (hom)
var-GS19834-1100-36-ASM (hom)
var-GS18502-1100-36-ASM
var-GS19649-1100-36-ASM (hom)
var-GS18555-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
var-GS19648-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_B02_200_37 (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom)
CGI sample GS01173-DNA_F06 from PGP sample 64191565 (hom)
CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom)
CGI sample GS00253-DNA_F01_200_37
var-GS20502-1100-36-ASM (hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272
var-GS19129-1100-36-ASM
var-GS18526-1100-36-ASM
var-GS18947-1100-36-ASM (hom)
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS06994-1100-36-ASM
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01173-DNA_A07 from PGP sample 96240009 (hom)
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS18508-1100-36-ASM (hom)
var-GS19669-1100-36-ASM
var-GS18940-1100-36-ASM (hom)
var-GS18956-1100-36-ASM (hom)
var-GS18517-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
PNPLA2 A495Tinsufficiently evaluated not reviewed, f=0.009unknown var-GS18555-1100-36-ASM
PNPLA3 H22Shiftinsufficiently evaluated not reviewedunknown
PNPLA3 M42Vinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
PNPLA3 S47Ainsufficiently evaluated not reviewed, f=0.000unknown CGI sample GS000006909
PNPLA3 C99Ginsufficiently evaluated none, f=0.079unknown var-GS19020-1100-36-ASM
var-GS19735-1100-36-ASM
var-GS19703-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_G01_200_37
var-GS19834-1100-36-ASM
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01175-DNA_B04 from PGP sample 88590671
var-GS19026-1100-36-ASM
PNPLA3 G115Cinsufficiently evaluated none, f=0.142unknown CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu3215A7 build 36 substitution variants
var-GS19020-1100-36-ASM
var-GS19700-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_G01_200_37
var-GS19239-1100-36-ASM
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS00253-DNA_C01_200_37
var-GS18526-1100-36-ASM
var-GS19238-1100-36-ASM
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01175-DNA_F02 from PGP sample 95788191
var-GS18508-1100-36-ASM
var-GS19669-1100-36-ASM
var-GS06985-1100-36-ASM
PNPLA3 I148Minsufficiently evaluated pharmacogenetic, f=0.196unknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_H01 from PGP sample 94797469 (hom)
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom)
var-GS19700-1100-36-ASM
var-GS19735-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909
var-GS07357-1100-36-ASM
var-GS12004-1100-36-ASM (hom)
var-GS10851-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37
var-GS19834-1100-36-ASM
var-GS18537-1100-36-ASM (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS00253-DNA_B01_200_37
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS00253-DNA_D01_200_37
var-GS18526-1100-36-ASM
var-GS18947-1100-36-ASM (hom)
var-GS19238-1100-36-ASM
var-GS19670-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
var-GS06994-1100-36-ASM
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_B02 from PGP sample 94378523
var-GS18940-1100-36-ASM
var-GS06985-1100-36-ASM
var-GS18956-1100-36-ASM (hom)
var-GS18517-1100-36-ASM
PNPLA3 F187Linsufficiently evaluated not reviewedunknown

(1 web hit)

PNPLA3 V227Iinsufficiently evaluated not reviewed, f=0.004unknown var-GS19239-1100-36-ASM
PNPLA3 P426Linsufficiently evaluated noneunknown
PNPLA3 K434Einsufficiently evaluated none, f=0.683unknown CGI sample GS00253-DNA_E01_200_37
CGI sample GS01669-DNA_C07 from PGP sample 74521372 (hom)
CGI sample GS01173-DNA_C02 from PGP sample 10366372 (hom)
CGI sample GS01175-DNA_G03 from PGP sample 92527586
var-GS19025-1100-36-ASM
CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01175-DNA_H01 from PGP sample 94797469 (hom)
hu34D5B9 exome (hom)
hu3215A7 build 36 substitution variants (hom)
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS18942-1100-36-ASM (hom)
var-GS19020-1100-36-ASM (hom)
CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom)
var-GS19700-1100-36-ASM (hom)
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-ASM (hom)
var-GS18558-1100-36-ASM
var-GS19735-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
CGI sample GS000006909 (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom)
var-GS07357-1100-36-ASM (hom)
CGI sample GS000005532
var-GS19703-1100-36-ASM
hu232307 build 36 substitution variants (hom)
var-GS12004-1100-36-ASM (hom)
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom)
CGI sample GS00253-DNA_G01_200_37
var-GS19701-1100-36-ASM (hom)
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS21767-1100-36-ASM
var-GS19704-1100-36-ASM (hom)
var-GS10851-1100-36-ASM (hom)
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19834-1100-36-ASM (hom)
var-GS19239-1100-36-ASM (hom)
var-GS19017-1100-36-ASM (hom)
var-GS18502-1100-36-ASM (hom)
var-GS19649-1100-36-ASM
var-GS18555-1100-36-ASM
var-GS19648-1100-36-ASM
var-GS18537-1100-36-ASM (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom)
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom)
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01175-DNA_D05 from PGP sample 1205491
var-GS20502-1100-36-ASM (hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
var-GS19129-1100-36-ASM (hom)
CGI sample GS00253-DNA_D01_200_37
var-GS19240-1100-36-ASM
CGI sample GS00253-DNA_C01_200_37
var-GS18526-1100-36-ASM (hom)
hu728FFF build 36 substitution variants (hom)
var-GS18947-1100-36-ASM (hom)
var-GS18505-1100-36-ASM (hom)
var-GS19238-1100-36-ASM
var-GS19670-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37 (hom)
var-GS06994-1100-36-ASM (hom)
CGI sample GS00253-DNA_H01_200_37 (hom)
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01173-DNA_A07 from PGP sample 96240009
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS18508-1100-36-ASM (hom)
var-GS19669-1100-36-ASM (hom)
var-GS19026-1100-36-ASM (hom)
var-GS20509-1100-36-ASM (hom)
var-GS18940-1100-36-ASM (hom)
var-GS06985-1100-36-ASM
var-GS18956-1100-36-ASM (hom)
var-GS18517-1100-36-ASM (hom)
PNPLA3 A444Tinsufficiently evaluated not reviewed, f=0.008unknown var-GS18558-1100-36-ASM
PNPLA3 S453Rinsufficiently evaluated none, f=0.020unknown

(2 web hits)

var-GS19704-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19129-1100-36-ASM
var-GS18505-1100-36-ASM
PNPLA3 S453Iinsufficiently evaluated none, f=0.036unknown var-GS18501-1100-36-ASM
var-GS19701-1100-36-ASM
var-GS18517-1100-36-ASM
PNPLA5 T28Sinsufficiently evaluated not reviewed, f=0.008unknown var-GS18517-1100-36-ASM
PNPLA5 C67Ginsufficiently evaluated not reviewed, f=0.009unknown var-GS19700-1100-36-ASM
PNPLA5 L140Finsufficiently evaluated none, f=0.122unknown hu3215A7 build 36 substitution variants
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS18942-1100-36-ASM (hom)
var-GS19020-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424
var-GS21767-1100-36-ASM
var-GS19704-1100-36-ASM
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS19649-1100-36-ASM (hom)
var-GS18537-1100-36-ASM
var-GS19240-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS19238-1100-36-ASM
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
var-GS18956-1100-36-ASM
var-GS18517-1100-36-ASM (hom)
PNPLA5 A143Tinsufficiently evaluated not reviewedunknown
PNPLA5 W172Rinsufficiently evaluated not reviewedunknown hu728FFF build 36 substitution variants
PNPLA5 P188Linsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B01 from PGP sample 86206034
PNPLA5 T200Iinsufficiently evaluated none, f=0.029unknown var-GS19025-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
var-GS10851-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS19129-1100-36-ASM
var-GS19669-1100-36-ASM
PNPLA5 T218Iinsufficiently evaluated none, f=0.028unknown var-GS19025-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
var-GS10851-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS19129-1100-36-ASM
var-GS19669-1100-36-ASM
PNPLA5 L228Rinsufficiently evaluated noneunknown
PNPLA5 W286Rinsufficiently evaluated none, f=0.335unknown CGI sample GS00253-DNA_E01_200_37
CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01175-DNA_H01 from PGP sample 94797469 (hom)
hu3215A7 build 36 substitution variants
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS18942-1100-36-ASM (hom)
var-GS19020-1100-36-ASM
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS18558-1100-36-ASM (hom)
var-GS19735-1100-36-ASM
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM
CGI sample GS000005532
var-GS19703-1100-36-ASM
var-GS12004-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)
var-GS21767-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS10851-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19239-1100-36-ASM
var-GS19649-1100-36-ASM (hom)
var-GS18555-1100-36-ASM
var-GS18537-1100-36-ASM (hom)
CGI sample GS00253-DNA_B02_200_37
CGI sample GS00253-DNA_B01_200_37
var-GS20502-1100-36-ASM (hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS00253-DNA_C01_200_37 (hom)
var-GS18526-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS18947-1100-36-ASM
var-GS19670-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
var-GS06994-1100-36-ASM (hom)
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_B02 from PGP sample 94378523
var-GS20509-1100-36-ASM
var-GS18940-1100-36-ASM (hom)
var-GS06985-1100-36-ASM
var-GS18956-1100-36-ASM (hom)
var-GS18517-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199
PNPLA5 P370Linsufficiently evaluated not reviewedunknown
PNPLA5 H427Yinsufficiently evaluated noneunknown
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
PNPLA7 S8Shiftinsufficiently evaluated not reviewed, f=0.008unknown CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS19735-1100-36-ASM
PNPLA7 S206Shiftinsufficiently evaluated not reviewed, f=0.008unknown var-GS18504-1100-36-ASM
PNPLA7 R236Hinsufficiently evaluated noneunknown
PNPLA7 R261Hinsufficiently evaluated none, f=0.016unknown hu3215A7 build 36 substitution variants
var-GS19701-1100-36-ASM
var-GS19240-1100-36-ASM
var-GS19238-1100-36-ASM
PNPLA7 R323Qinsufficiently evaluated noneunknown
PNPLA7 R348Qinsufficiently evaluated none, f=0.130unknown var-GS19025-1100-36-ASM
hu3215A7 build 36 substitution variants
var-GS18942-1100-36-ASM
var-GS19020-1100-36-ASM
var-GS19700-1100-36-ASM
CGI sample GS000005532
CGI sample GS01173-DNA_H06 from PGP sample 91708424
var-GS19701-1100-36-ASM
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19239-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS18537-1100-36-ASM (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_B02_200_37 (hom)
var-GS20502-1100-36-ASM
var-GS19129-1100-36-ASM
var-GS19240-1100-36-ASM (hom)
var-GS18526-1100-36-ASM
var-GS18947-1100-36-ASM
var-GS19238-1100-36-ASM (hom)
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS20509-1100-36-ASM
var-GS18940-1100-36-ASM
var-GS18956-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
PNPLA7 Q364Einsufficiently evaluated noneunknown hu728FFF build 36 substitution variants
PNPLA7 E367Kinsufficiently evaluated not reviewedunknown
PNPLA7 E368Dinsufficiently evaluated noneunknown hu728FFF build 36 substitution variants
PNPLA7 Q389Einsufficiently evaluated none, f=0.072unknown var-GS19025-1100-36-ASM
var-GS19020-1100-36-ASM
var-GS21767-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS18508-1100-36-ASM
var-GS19026-1100-36-ASM
var-GS18940-1100-36-ASM
var-GS18517-1100-36-ASM
PNPLA7 E392Kinsufficiently evaluated not reviewed, f=0.001unknown
PNPLA7 E393Dinsufficiently evaluated none, f=0.072unknown var-GS19025-1100-36-ASM
var-GS19020-1100-36-ASM
var-GS21767-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS18508-1100-36-ASM
var-GS19026-1100-36-ASM
var-GS18940-1100-36-ASM
var-GS18517-1100-36-ASM
PNPLA7 H405Dinsufficiently evaluated noneunknown
PNPLA7 S405Linsufficiently evaluated not reviewed, f=0.001unknown var-GS19648-1100-36-ASM
PNPLA7 E408Kinsufficiently evaluated noneunknown
PNPLA7 H430Dinsufficiently evaluated none, f=0.004unknown var-GS19700-1100-36-ASM
PNPLA7 E433Kinsufficiently evaluated none, f=0.009unknown
PNPLA7 V486Ainsufficiently evaluated noneunknown
PNPLA7 F498Linsufficiently evaluated not reviewedunknown
PNPLA7 V511Ainsufficiently evaluated none, f=0.007unknown CGI sample GS00253-DNA_B02_200_37
PNPLA7 F523Linsufficiently evaluated not reviewedunknown
PNPLA7 S555Pinsufficiently evaluated not reviewedunknown
PNPLA7 S580Pinsufficiently evaluated not reviewedunknown
PNPLA7 R611Qinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_B03 from PGP sample 14427241
PNPLA7 R626Xinsufficiently evaluated not reviewed, f=0.008unknown var-GS18558-1100-36-ASM
PNPLA7 D746Ginsufficiently evaluated not reviewed, f=0.008unknown var-GS19704-1100-36-ASM
PNPLA7 R784Winsufficiently evaluated not reviewedunknown
PNPLA7 V803Ainsufficiently evaluated noneunknown hu728FFF build 36 substitution variants (hom)
PNPLA7 V805Iinsufficiently evaluated not reviewed, f=0.000unknown var-GS06985-1100-36-ASM
PNPLA7 R809Winsufficiently evaluated not reviewedunknown
PNPLA7 V824Minsufficiently evaluated noneunknown hu728FFF build 36 substitution variants
PNPLA7 V828Ainsufficiently evaluated none, f=1.000unknown CGI sample GS00253-DNA_E01_200_37 (hom)
CGI sample GS01669-DNA_C07 from PGP sample 74521372 (hom)
CGI sample GS01173-DNA_C02 from PGP sample 10366372 (hom)
CGI sample GS01175-DNA_G03 from PGP sample 92527586 (hom)
var-GS19025-1100-36-ASM (hom)
CGI sample GS01669-DNA_F02 from PGP sample 40767107 (hom)
CGI sample GS01175-DNA_H01 from PGP sample 94797469 (hom)
hu34D5B9 exome (hom)
hu3215A7 build 36 substitution variants (hom)
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) (hom)
var-GS18942-1100-36-ASM (hom)
CGI sample GS01669-DNA_C05 from PGP sample 42408046 (hom)
var-GS19020-1100-36-ASM (hom)
CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom)
var-GS19700-1100-36-ASM (hom)
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-ASM (hom)
var-GS18558-1100-36-ASM (hom)
var-GS19735-1100-36-ASM (hom)
CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
CGI sample GS000006909 (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom)
var-GS07357-1100-36-ASM (hom)
CGI sample GS000005532 (hom)
var-GS19703-1100-36-ASM (hom)
hu232307 build 36 substitution variants (hom)
var-GS12004-1100-36-ASM (hom)
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom)
CGI sample GS00253-DNA_G01_200_37 (hom)
var-GS19701-1100-36-ASM (hom)
CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)
var-GS21767-1100-36-ASM (hom)
var-GS19704-1100-36-ASM (hom)
var-GS10851-1100-36-ASM (hom)
CGI sample GS00253-DNA_A01_200_37 (hom)
CGI sample GS01173-DNA_D06 from PGP sample 69488604 (hom)
var-GS19834-1100-36-ASM (hom)
var-GS19239-1100-36-ASM (hom)
var-GS19017-1100-36-ASM (hom)
var-GS18502-1100-36-ASM (hom)
var-GS19649-1100-36-ASM (hom)
var-GS18555-1100-36-ASM (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
var-GS19648-1100-36-ASM (hom)
var-GS18537-1100-36-ASM (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom)
CGI sample GS00253-DNA_B02_200_37 (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom)
CGI sample GS00253-DNA_B01_200_37 (hom)
CGI sample GS01173-DNA_F06 from PGP sample 64191565 (hom)
CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom)
CGI sample GS00253-DNA_F01_200_37 (hom)
var-GS20502-1100-36-ASM (hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
var-GS19129-1100-36-ASM (hom)
CGI sample GS00253-DNA_D01_200_37 (hom)
var-GS19240-1100-36-ASM (hom)
CGI sample GS00253-DNA_C01_200_37 (hom)
var-GS18526-1100-36-ASM (hom)
hu728FFF build 36 substitution variants (hom)
var-GS18947-1100-36-ASM (hom)
var-GS18505-1100-36-ASM (hom)
var-GS19238-1100-36-ASM (hom)
var-GS19670-1100-36-ASM (hom)
CGI sample GS00253-DNA_A02_200_37 (hom)
var-GS06994-1100-36-ASM (hom)
CGI sample GS00253-DNA_H01_200_37 (hom)
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
CGI sample GS01175-DNA_F02 from PGP sample 95788191 (hom)
CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom)
CGI sample GS01173-DNA_B02 from PGP sample 94378523 (hom)
CGI sample GS01173-DNA_A07 from PGP sample 96240009 (hom)
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
var-GS18508-1100-36-ASM (hom)
var-GS19669-1100-36-ASM (hom)
var-GS19026-1100-36-ASM (hom)
var-GS20509-1100-36-ASM (hom)
var-GS18940-1100-36-ASM (hom)
var-GS06985-1100-36-ASM (hom)
var-GS18956-1100-36-ASM (hom)
var-GS18517-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
PNPLA7 V849Minsufficiently evaluated none, f=0.038unknown var-GS19703-1100-36-ASM
var-GS19240-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS18505-1100-36-ASM (hom)
PNPLA7 R863Qinsufficiently evaluated not reviewed, f=0.008unknown var-GS19670-1100-36-ASM
PNPLA7 W874Sinsufficiently evaluated not reviewedunknown
PNPLA7 W899Sinsufficiently evaluated not reviewed, f=0.040unknown CGI sample GS01173-DNA_D06 from PGP sample 69488604
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01173-DNA_B07 from PGP sample 61499538
PNPLA7 H902Rinsufficiently evaluated noneunknown
PNPLA7 P908Linsufficiently evaluated noneunknown
PNPLA7 H927Rinsufficiently evaluated none, f=0.074unknown var-GS19025-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS19703-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19240-1100-36-ASM
var-GS18505-1100-36-ASM (hom)
var-GS19238-1100-36-ASM
var-GS18508-1100-36-ASM
var-GS19026-1100-36-ASM
PNPLA7 G931Ainsufficiently evaluated not reviewedunknown
PNPLA7 P933Linsufficiently evaluated none, f=0.001unknown var-GS18558-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034
var-GS18526-1100-36-ASM
var-GS18947-1100-36-ASM
PNPLA7 G956Ainsufficiently evaluated not reviewed, f=0.009unknown var-GS18508-1100-36-ASM
PNPLA7 L993Minsufficiently evaluated noneunknown hu728FFF build 36 substitution variants
PNPLA7 L1018Minsufficiently evaluated none, f=0.070unknown var-GS19025-1100-36-ASM
var-GS19700-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS19703-1100-36-ASM
var-GS19701-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS18505-1100-36-ASM
var-GS18508-1100-36-ASM (hom)
var-GS19026-1100-36-ASM
var-GS18517-1100-36-ASM (hom)
PNPLA7 FS1033LTinsufficiently evaluated not reviewedunknown CGI sample GS00253-DNA_A02_200_37
PNPLA7 D1050Ninsufficiently evaluated noneunknown
PNPLA7 W1055Rinsufficiently evaluated noneunknown hu728FFF build 36 substitution variants (hom)
PNPLA7 D1075Ninsufficiently evaluated none, f=0.070unknown CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
var-GS18502-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_C01_200_37 (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199
PNPLA7 W1080Rinsufficiently evaluated none, f=0.998unknown CGI sample GS01669-DNA_C07 from PGP sample 74521372 (hom)
CGI sample GS01173-DNA_C02 from PGP sample 10366372 (hom)
CGI sample GS01175-DNA_G03 from PGP sample 92527586 (hom)
CGI sample GS01669-DNA_F02 from PGP sample 40767107 (hom)
CGI sample GS01175-DNA_H01 from PGP sample 94797469 (hom)
hu34D5B9 exome (hom)
hu3215A7 build 36 substitution variants (hom)
CGI sample GS01669-DNA_C05 from PGP sample 42408046 (hom)
CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom)
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-ASM (hom)
var-GS18558-1100-36-ASM (hom)
CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom)
var-GS07357-1100-36-ASM (hom)
hu232307 build 36 substitution variants (hom)
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom)
var-GS19701-1100-36-ASM (hom)
CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)
var-GS19704-1100-36-ASM (hom)
CGI sample GS01173-DNA_D06 from PGP sample 69488604 (hom)
var-GS19834-1100-36-ASM (hom)
var-GS19239-1100-36-ASM (hom)
var-GS19017-1100-36-ASM (hom)
var-GS18502-1100-36-ASM (hom)
var-GS18555-1100-36-ASM (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom)
CGI sample GS01173-DNA_F06 from PGP sample 64191565 (hom)
CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
var-GS19129-1100-36-ASM (hom)
var-GS19240-1100-36-ASM (hom)
hu728FFF build 36 substitution variants (hom)
var-GS18947-1100-36-ASM (hom)
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
CGI sample GS01175-DNA_F02 from PGP sample 95788191 (hom)
CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom)
CGI sample GS01173-DNA_B02 from PGP sample 94378523 (hom)
CGI sample GS01173-DNA_A07 from PGP sample 96240009 (hom)
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
var-GS18508-1100-36-ASM (hom)
var-GS19669-1100-36-ASM (hom)
var-GS19026-1100-36-ASM (hom)
var-GS20509-1100-36-ASM (hom)
var-GS18940-1100-36-ASM (hom)
var-GS18517-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
PNPLA7 T1136Ainsufficiently evaluated not reviewedunknown
PNPLA7 G1148Einsufficiently evaluated not reviewed, f=0.001unknown CGI sample GS000006909
PNPLA7 T1161Ainsufficiently evaluated not reviewedunknown
PNPLA7 R1206Cinsufficiently evaluated not reviewedunknown
PNPLA7 R1231Shiftinsufficiently evaluated not reviewed, f=0.008unknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
var-GS19834-1100-36-ASM
PNPLA7 R1231Cinsufficiently evaluated not reviewedunknown
PNPLA7 P1273Sinsufficiently evaluated not reviewed, f=0.009unknown var-GS18504-1100-36-ASM
PNPLA8 R217Cinsufficiently evaluated not reviewed, f=0.008unknown CGI sample GS00253-DNA_A02_200_37
PNPLA8 R217Pinsufficiently evaluated not reviewed, f=0.000unknown var-GS19026-1100-36-ASM
PNPLA8 V263Linsufficiently evaluated noneunknown
PNPLA8 L313Vinsufficiently evaluated not reviewedunknown
PNPLA8 I447Tinsufficiently evaluated not reviewed, f=0.008unknown CGI sample GS00253-DNA_A01_200_37
PNPLA8 Q729Rinsufficiently evaluated not reviewedunknown
PNPO R116Qinsufficiently evaluated not reviewed, f=0.053unknown

(2 web hits)

hu3215A7 build 36 substitution variants
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS00253-DNA_F01_200_37
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_B02 from PGP sample 94378523 (hom)
PNPO A174Xinsufficiently evaluated pathogenicunknown

(8 web hits)

PNPO R229Winsufficiently evaluated pathogenicunknown

(14 web hits)

PNPT1 L33Sinsufficiently evaluated not reviewedunknown
PNPT1 F66Sinsufficiently evaluated not reviewedunknown
PNPT1 V99Shiftinsufficiently evaluated not reviewed, f=0.008unknown
PNPT1 I121Vinsufficiently evaluated none, f=0.447unknown CGI sample GS00253-DNA_E01_200_37
CGI sample GS01669-DNA_C07 from PGP sample 74521372 (hom)
CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu3215A7 build 36 substitution variants
var-GS19020-1100-36-ASM
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909
CGI sample GS000005532
var-GS19703-1100-36-ASM (hom)
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS00253-DNA_G01_200_37
var-GS19701-1100-36-ASM (hom)
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS21767-1100-36-ASM
var-GS19704-1100-36-ASM (hom)
var-GS10851-1100-36-ASM (hom)
CGI sample GS00253-DNA_A01_200_37 (hom)
var-GS19834-1100-36-ASM (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261
var-GS19648-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom)
CGI sample GS01173-DNA_F06 from PGP sample 64191565 (hom)
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS00253-DNA_F01_200_37 (hom)
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01175-DNA_D01 from PGP sample 31286272
var-GS19129-1100-36-ASM
CGI sample GS00253-DNA_D01_200_37
CGI sample GS00253-DNA_C01_200_37
hu728FFF build 36 substitution variants (hom)
var-GS18947-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37 (hom)
CGI sample GS00253-DNA_H01_200_37 (hom)
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom)
CGI sample GS01173-DNA_B02 from PGP sample 94378523 (hom)
CGI sample GS01173-DNA_A07 from PGP sample 96240009
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS18508-1100-36-ASM
var-GS20509-1100-36-ASM
var-GS18940-1100-36-ASM
var-GS06985-1100-36-ASM
var-GS18517-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
PNPT1 I138Vinsufficiently evaluated not reviewed, f=0.001unknown var-GS18505-1100-36-ASM
PNPT1 M572Vinsufficiently evaluated none, f=0.008unknown var-GS18555-1100-36-ASM
PNPT1 N590Dinsufficiently evaluated none, f=0.157unknown var-GS19025-1100-36-ASM (hom)
hu34D5B9 exome
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS18558-1100-36-ASM
var-GS07357-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM (hom)
CGI sample GS00253-DNA_B02_200_37
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM
CGI sample GS01175-DNA_F02 from PGP sample 95788191
var-GS18508-1100-36-ASM
var-GS18517-1100-36-ASM
PNPT1 Q729Kinsufficiently evaluated not reviewedunknown hu34D5B9 exome
Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15
Total results: 146

Gene search

"GENE" or "GENE A123C":

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