GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
ADA D8Nuncertain benign, f=0.030dominant

This common variant is reported to reduce adenosine deaminase enzyme activity. It has been associated with an increased tendency for non-REM sleep — more slow wave sleep, less nocturnal wakings, and a stronger negative impact of sleep deprivation. A role for this gene and variant was previously proposed for autism susceptibility, but this is controversial and was not replicated by later studies.

(8469 web hits)

CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01173-DNA_H06 from PGP sample 91708424
var-GS18555-1100-36-ASM
ADA G74Vinsufficiently evaluated pathogenicunknown

(10 web hits)

ADA R76Winsufficiently evaluated pathogenic, f=0.001unknown

(23 web hits)

ADA K80Runcertain benign, f=0.064recessive

This variant has a 3.5% allele frequency in 1000 genomes data. Although OMIM links this to disease, the paper they reference uses in vitro data to conclude that this is a functionally neutral polymorphism.

(15 web hits)

var-GS19020-1100-36-ASM
CGI sample GS000005532
var-GS12004-1100-36-ASM
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_A01_200_37
var-GS19017-1100-36-ASM (hom)
CGI sample GS00253-DNA_B01_200_37
var-GS20502-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS06994-1100-36-ASM
var-GS19026-1100-36-ASM
ADA R101Qinsufficiently evaluated pathogenicunknown

(19 web hits)

ADA R101Winsufficiently evaluated pathogenicunknown

(14 web hits)

ADA L107Pinsufficiently evaluated pathogenicunknown

(13 web hits)

ADA A108Dinsufficiently evaluated noneunknown

(19 web hits)

ADA R149Qinsufficiently evaluated pathogenicunknown

(14 web hits)

ADA L152Minsufficiently evaluated pathogenic, f=0.000unknown

(4 web hits)

ADA R156Cinsufficiently evaluated pathogenicunknown

(56 web hits)

ADA R156Hinsufficiently evaluated pathogenicunknown

(12 web hits)

ADA R211Cinsufficiently evaluated pathogenicunknown

(12 web hits)

ADA R211Hinsufficiently evaluated pathogenic, f=0.000unknown

(15 web hits)

ADA A215Tinsufficiently evaluated pathogenic, f=0.000unknown

(32 web hits)

ADA G216Rinsufficiently evaluated pathogenicunknown

(29 web hits)

ADA T233Iinsufficiently evaluated pathogenicunknown

(8 web hits)

ADA P274Linsufficiently evaluated pathogenicunknown

(5 web hits)

ADA S291Linsufficiently evaluated pathogenicunknown

(52 web hits)

ADA P297Qinsufficiently evaluated pathogenicunknown

(6 web hits)

ADA L304Rinsufficiently evaluated pathogenicunknown

(10 web hits)

ADA D314Ginsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_A04 from PGP sample 08188426
ADA A329Vinsufficiently evaluated pathogenic, f=0.000unknown

(10 web hits)

ADAD1 R206Hinsufficiently evaluated not reviewedunknown
ADAD1 R224Hinsufficiently evaluated not reviewedunknown
ADAD2 R18Hinsufficiently evaluated not reviewed, f=0.005unknown var-GS18508-1100-36-ASM
ADAD2 G44Einsufficiently evaluated none, f=0.758unknown CGI sample GS01669-DNA_C07 from PGP sample 74521372 (hom)
CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_G03 from PGP sample 92527586
var-GS19025-1100-36-ASM (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
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS18942-1100-36-ASM
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS19020-1100-36-ASM (hom)
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS19700-1100-36-ASM (hom)
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS18558-1100-36-ASM (hom)
var-GS19735-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370
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 GS01669-DNA_B03 from PGP sample 14427241 (hom)
var-GS19701-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)
var-GS19704-1100-36-ASM (hom)
CGI sample GS00253-DNA_A01_200_37
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
var-GS18555-1100-36-ASM (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261
var-GS19648-1100-36-ASM (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_B02_200_37
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 (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
var-GS19240-1100-36-ASM (hom)
var-GS18526-1100-36-ASM (hom)
var-GS18947-1100-36-ASM
var-GS18505-1100-36-ASM (hom)
var-GS19238-1100-36-ASM (hom)
var-GS06994-1100-36-ASM (hom)
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01173-DNA_B02 from PGP sample 94378523 (hom)
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS18508-1100-36-ASM (hom)
var-GS19669-1100-36-ASM (hom)
var-GS20509-1100-36-ASM
var-GS18940-1100-36-ASM
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
ADAD2 R174Cinsufficiently evaluated not reviewed, f=0.008unknown var-GS06994-1100-36-ASM
ADAD2 G235Rinsufficiently evaluated none, f=0.336unknown CGI sample GS01669-DNA_C07 from PGP sample 74521372 (hom)
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome (hom)
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS00253-DNA_G01_200_37
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_B02_200_37
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 (hom)
CGI sample GS00253-DNA_F01_200_37
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS00253-DNA_D01_200_37
CGI sample GS01173-DNA_B07 from PGP sample 61499538
ADAD2 R244Kinsufficiently evaluated not reviewed, f=0.005unknown
ADAD2 G307Rinsufficiently evaluated none, f=0.336unknown var-GS19025-1100-36-ASM
hu3215A7 build 36 substitution variants
var-GS19020-1100-36-ASM (hom)
var-GS19700-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS07357-1100-36-ASM
var-GS12004-1100-36-ASM
var-GS19701-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS10851-1100-36-ASM
var-GS19239-1100-36-ASM (hom)
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS18555-1100-36-ASM
var-GS19648-1100-36-ASM
var-GS19129-1100-36-ASM
var-GS19240-1100-36-ASM
var-GS18526-1100-36-ASM
var-GS18505-1100-36-ASM (hom)
var-GS19238-1100-36-ASM
var-GS18508-1100-36-ASM
var-GS19669-1100-36-ASM
var-GS20509-1100-36-ASM
var-GS18940-1100-36-ASM
var-GS18956-1100-36-ASM
var-GS18517-1100-36-ASM
ADAD2 R316Kinsufficiently evaluated not reviewedunknown
ADAD2 R525Winsufficiently evaluated not reviewedunknown
ADAD2 A541Sinsufficiently evaluated not reviewed, f=0.025unknown hu34D5B9 exome
ADAD2 T563Iinsufficiently evaluated not reviewed, f=0.008unknown var-GS06994-1100-36-ASM
ADAD2 R607Winsufficiently evaluated not reviewedunknown
ADAD2 A623Sinsufficiently evaluated not reviewed, f=0.008unknown var-GS21767-1100-36-ASM
ADAL Q68Hinsufficiently evaluated noneunknown

(2 web hits)

ADAL N237Sinsufficiently evaluated not reviewed, f=0.016unknown var-GS18502-1100-36-ASM
var-GS18505-1100-36-ASM
ADAL X268Sinsufficiently evaluated not reviewed, f=0.008unknown var-GS19238-1100-36-ASM
ADAM11 R72Hinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B05 from PGP sample 83494370
ADAM11 L93Sinsufficiently evaluated not reviewed, f=0.582unknown CGI sample GS00253-DNA_E01_200_37 (hom)
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
var-GS19025-1100-36-ASM (hom)
CGI sample GS01669-DNA_F02 from PGP sample 40767107
hu34D5B9 exome
hu3215A7 build 36 substitution variants (hom)
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS18942-1100-36-ASM
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS19020-1100-36-ASM
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-ASM
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)
var-GS07357-1100-36-ASM (hom)
CGI sample GS000005532 (hom)
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM
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
var-GS21767-1100-36-ASM (hom)
var-GS19704-1100-36-ASM (hom)
var-GS10851-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19834-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19649-1100-36-ASM
var-GS18555-1100-36-ASM (hom)
var-GS19648-1100-36-ASM (hom)
var-GS18537-1100-36-ASM
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 (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)
var-GS19129-1100-36-ASM
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-GS19238-1100-36-ASM (hom)
var-GS19670-1100-36-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
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS18508-1100-36-ASM
var-GS19669-1100-36-ASM (hom)
var-GS19026-1100-36-ASM
var-GS18940-1100-36-ASM
var-GS06985-1100-36-ASM (hom)
var-GS18956-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199
ADAM11 R141Xinsufficiently evaluated not reviewed, f=0.027unknown CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS19649-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS01173-DNA_A07 from PGP sample 96240009
var-GS20509-1100-36-ASM
ADAM11 A226Tinsufficiently evaluated not reviewed, f=0.610unknown CGI sample GS00253-DNA_E01_200_37 (hom)
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
var-GS19025-1100-36-ASM (hom)
CGI sample GS01669-DNA_F02 from PGP sample 40767107
hu34D5B9 exome
hu3215A7 build 36 substitution variants (hom)
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS18942-1100-36-ASM
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS19020-1100-36-ASM
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-ASM
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)
var-GS07357-1100-36-ASM (hom)
CGI sample GS000005532 (hom)
var-GS19703-1100-36-ASM
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM
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
var-GS21767-1100-36-ASM (hom)
var-GS19704-1100-36-ASM (hom)
var-GS10851-1100-36-ASM
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19834-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS18555-1100-36-ASM (hom)
var-GS19648-1100-36-ASM (hom)
var-GS18537-1100-36-ASM
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 (hom)
CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom)
CGI sample GS00253-DNA_F01_200_37
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
var-GS19129-1100-36-ASM
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-GS19670-1100-36-ASM
var-GS06994-1100-36-ASM
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
var-GS19669-1100-36-ASM (hom)
var-GS19026-1100-36-ASM
var-GS18940-1100-36-ASM
var-GS06985-1100-36-ASM (hom)
var-GS18956-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199
ADAM11 P255Sinsufficiently evaluated not reviewed, f=0.619unknown CGI sample GS00253-DNA_E01_200_37 (hom)
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
var-GS19025-1100-36-ASM (hom)
CGI sample GS01669-DNA_F02 from PGP sample 40767107
hu34D5B9 exome
hu3215A7 build 36 substitution variants (hom)
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS18942-1100-36-ASM
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS19020-1100-36-ASM
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-ASM
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)
var-GS07357-1100-36-ASM (hom)
CGI sample GS000005532 (hom)
var-GS19703-1100-36-ASM
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM
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-GS21767-1100-36-ASM (hom)
var-GS19704-1100-36-ASM (hom)
var-GS10851-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19834-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19649-1100-36-ASM
var-GS18555-1100-36-ASM (hom)
var-GS19648-1100-36-ASM (hom)
var-GS18537-1100-36-ASM
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 (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)
var-GS19129-1100-36-ASM
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-GS19238-1100-36-ASM (hom)
var-GS19670-1100-36-ASM
var-GS06994-1100-36-ASM
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
var-GS19669-1100-36-ASM (hom)
var-GS19026-1100-36-ASM
var-GS18940-1100-36-ASM
var-GS06985-1100-36-ASM (hom)
var-GS18956-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199
ADAM11 N472Rinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
ADAM12 G48Rinsufficiently evaluated none, f=0.576unknown 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
var-GS19025-1100-36-ASM
CGI sample GS01669-DNA_F02 from PGP sample 40767107 (hom)
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu3215A7 build 36 substitution variants
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
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS18501-1100-36-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
var-GS07357-1100-36-ASM (hom)
CGI sample GS000005532 (hom)
var-GS19703-1100-36-ASM (hom)
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM (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 GS01175-DNA_A04 from PGP sample 13272228
var-GS21767-1100-36-ASM (hom)
var-GS19704-1100-36-ASM (hom)
var-GS10851-1100-36-ASM
CGI sample GS01173-DNA_D06 from PGP sample 69488604 (hom)
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM (hom)
var-GS18502-1100-36-ASM (hom)
var-GS19649-1100-36-ASM
var-GS18555-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
var-GS18537-1100-36-ASM
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 GS01175-DNA_D05 from PGP sample 1205491 (hom)
CGI sample GS00253-DNA_F01_200_37 (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
CGI sample GS00253-DNA_D01_200_37
var-GS19240-1100-36-ASM
CGI sample GS00253-DNA_C01_200_37 (hom)
var-GS18526-1100-36-ASM (hom)
var-GS18947-1100-36-ASM
var-GS18505-1100-36-ASM (hom)
var-GS19238-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37 (hom)
var-GS06994-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01175-DNA_F02 from PGP sample 95788191 (hom)
CGI sample GS01175-DNA_B04 from PGP sample 88590671
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
var-GS18940-1100-36-ASM
var-GS18956-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199
ADAM12 R71Qinsufficiently evaluated none, f=0.012unknown

(4 web hits)

CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS01173-DNA_F06 from PGP sample 64191565
var-GS18508-1100-36-ASM
ADAM12 K170Rinsufficiently evaluated not reviewed, f=0.004unknown
ADAM12 S393Rinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_B05 from PGP sample 86486261
ADAM12 K850Tinsufficiently evaluated not reviewedunknown
ADAM12 I908Vinsufficiently evaluated none, f=0.025unknown hu34D5B9 exome
CGI sample GS00253-DNA_A02_200_37 (hom)
ADAM15 S36Ainsufficiently evaluated noneunknown
ADAM15 H80Linsufficiently evaluated not reviewed, f=0.003unknown var-GS19026-1100-36-ASM
ADAM15 K191Tinsufficiently evaluated none, f=0.873unknown CGI sample GS00253-DNA_E01_200_37 (hom)
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 (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
hu34D5B9 exome (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)
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS19020-1100-36-ASM
CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom)
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM
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
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)
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
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
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
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
CGI sample GS00253-DNA_C01_200_37
var-GS18526-1100-36-ASM (hom)
hu728FFF build 36 substitution variants
var-GS18947-1100-36-ASM (hom)
var-GS18505-1100-36-ASM (hom)
var-GS19238-1100-36-ASM
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
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
var-GS19669-1100-36-ASM (hom)
var-GS19026-1100-36-ASM
var-GS20509-1100-36-ASM
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)
ADAM15 L240Minsufficiently evaluated none, f=0.000unknown var-GS18558-1100-36-ASM
var-GS18537-1100-36-ASM (hom)
ADAM15 A542Tinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_C05 from PGP sample 42408046
ADAM15 P681Sinsufficiently evaluated not reviewedunknown
ADAM15 S714Ginsufficiently evaluated none, f=0.040unknown hu3215A7 build 36 substitution variants
var-GS19701-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19129-1100-36-ASM
ADAM15 A768Finsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
ADAM15 P768Sinsufficiently evaluated noneunknown
ADAM15 P769Sinsufficiently evaluated none, f=0.208unknown CGI sample GS00253-DNA_E01_200_37
hu34D5B9 exome
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
CGI sample GS000006909
CGI sample GS00253-DNA_G01_200_37
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS19704-1100-36-ASM
var-GS19834-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
var-GS19648-1100-36-ASM
CGI sample GS01669-DNA_H05 from PGP sample 10971581
var-GS20502-1100-36-ASM
var-GS19670-1100-36-ASM
CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom)
var-GS19669-1100-36-ASM
var-GS18517-1100-36-ASM
ADAM17 L60Iinsufficiently evaluated not reviewed, f=0.001unknown
ADAM17 R202Ginsufficiently evaluated none, f=0.076unknown var-GS19020-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS19703-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19129-1100-36-ASM
var-GS19240-1100-36-ASM
var-GS18508-1100-36-ASM
var-GS18517-1100-36-ASM (hom)
ADAM17 R202Xinsufficiently evaluated not reviewedunknown

(12 web hits)

ADAM17 V673Iinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_B05 from PGP sample 86486261
ADAM17 S747Linsufficiently evaluated not reviewed, f=0.014unknown CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS19649-1100-36-ASM
CGI sample GS01173-DNA_B07 from PGP sample 61499538
ADAM17 A748Vinsufficiently evaluated none, f=0.006unknown var-GS19239-1100-36-ASM
ADAM17 H756Shiftinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01669-DNA_H05 from PGP sample 10971581
ADAM17 Q757Shiftinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_H05 from PGP sample 10971581
ADAM18 I123Linsufficiently evaluated not reviewed, f=0.003unknown var-GS19026-1100-36-ASM
ADAM18 Q142Linsufficiently evaluated none, f=0.043unknown var-GS18504-1100-36-ASM
var-GS19701-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19648-1100-36-ASM
var-GS19129-1100-36-ASM
ADAM18 V212Finsufficiently evaluated none, f=0.037unknown var-GS19020-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS19703-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS18517-1100-36-ASM
ADAM18 I230Tinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_B02 from PGP sample 94378523
ADAM18 G309Cinsufficiently evaluated not reviewedunknown
ADAM18 T568Ainsufficiently evaluated not reviewed, f=0.010unknown var-GS06985-1100-36-ASM
ADAM18 C642Sinsufficiently evaluated not reviewed, f=0.000unknown var-GS19700-1100-36-ASM
ADAM18 K654Rinsufficiently evaluated none, f=0.035unknown var-GS18501-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS18517-1100-36-ASM
ADAM18 S716Tinsufficiently evaluated none, f=0.031unknown var-GS19703-1100-36-ASM
var-GS18517-1100-36-ASM
ADAM18 E723Ginsufficiently evaluated not reviewed, f=0.028unknown var-GS19703-1100-36-ASM
ADAM18 R726Cinsufficiently evaluated none, f=0.000unknown
ADAM19 G4Sinsufficiently evaluated not reviewed, f=0.055unknown

(40 web hits)

hu34D5B9 exome
hu3215A7 build 36 substitution variants
CGI sample GS000005532
var-GS19703-1100-36-ASM
var-GS10851-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
var-GS19129-1100-36-ASM
ADAM19 L63Finsufficiently evaluated not reviewed, f=0.004unknown CGI sample GS00253-DNA_C01_200_37
ADAM19 L64Finsufficiently evaluated not reviewedunknown
ADAM19 Q103Einsufficiently evaluated not reviewed, f=0.031unknown var-GS19701-1100-36-ASM
ADAM19 Q104Einsufficiently evaluated not reviewedunknown
ADAM19 S284Ginsufficiently evaluated none, f=0.434unknown CGI sample GS00253-DNA_E01_200_37
CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01173-DNA_C02 from PGP sample 10366372
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)
CGI sample GS01669-DNA_C05 from PGP sample 42408046 (hom)
var-GS19020-1100-36-ASM (hom)
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370
CGI sample GS000005532 (hom)
var-GS19701-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS21767-1100-36-ASM (hom)
var-GS19704-1100-36-ASM
var-GS10851-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37 (hom)
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM (hom)
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
var-GS19648-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom)
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS00253-DNA_F01_200_37
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
var-GS19129-1100-36-ASM
CGI sample GS00253-DNA_D01_200_37
var-GS19240-1100-36-ASM (hom)
CGI sample GS00253-DNA_C01_200_37
var-GS18526-1100-36-ASM
hu728FFF build 36 substitution variants (hom)
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM (hom)
var-GS19670-1100-36-ASM (hom)
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 (hom)
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
var-GS19026-1100-36-ASM (hom)
var-GS20509-1100-36-ASM (hom)
var-GS18517-1100-36-ASM
ADAM19 S285Ginsufficiently evaluated noneunknown
ADAM19 A454Vinsufficiently evaluated not reviewed, f=0.005unknown

(3 web hits)

ADAM19 A455Vinsufficiently evaluated not reviewedunknown

(3 web hits)

ADAM19 G660Dinsufficiently evaluated none, f=0.106unknown CGI sample GS01175-DNA_G03 from PGP sample 92527586 (hom)
var-GS07357-1100-36-ASM
hu232307 build 36 substitution variants
var-GS10851-1100-36-ASM
var-GS19649-1100-36-ASM
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS00253-DNA_D01_200_37
CGI sample GS00253-DNA_C01_200_37
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01175-DNA_B04 from PGP sample 88590671
ADAM19 G661Dinsufficiently evaluated noneunknown
ADAM19 S740Ainsufficiently evaluated none, f=0.199unknown CGI sample GS01175-DNA_G03 from PGP sample 92527586 (hom)
var-GS19025-1100-36-ASM
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome
hu3215A7 build 36 substitution variants
var-GS07357-1100-36-ASM
CGI sample GS000005532
var-GS19703-1100-36-ASM
hu232307 build 36 substitution variants
CGI sample GS01669-DNA_B03 from PGP sample 14427241
var-GS19701-1100-36-ASM
var-GS10851-1100-36-ASM (hom)
CGI sample GS00253-DNA_A01_200_37
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19649-1100-36-ASM
var-GS19648-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS00253-DNA_C01_200_37
hu728FFF build 36 substitution variants
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01175-DNA_B04 from PGP sample 88590671
var-GS20509-1100-36-ASM
var-GS18517-1100-36-ASM
ADAM19 S741Ainsufficiently evaluated noneunknown
ADAM19 Y797Finsufficiently evaluated not reviewed, f=0.008unknown var-GS19704-1100-36-ASM
ADAM19 A805Tinsufficiently evaluated none, f=0.021unknown var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19240-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS18508-1100-36-ASM
ADAM19 A806Tinsufficiently evaluated noneunknown
ADAM19 P834Ainsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS01669-DNA_D02 from PGP sample 27316983
ADAM19 C951Yinsufficiently evaluated noneunknown
ADAM2 G10Winsufficiently evaluated unknown, f=0.025unknown hu728FFF build 36 substitution variants
ADAM2 G12Sinsufficiently evaluated not reviewed, f=0.002unknown var-GS19700-1100-36-ASM
ADAM2 R15Winsufficiently evaluated not reviewed, f=0.000unknown

(1 web hit)

ADAM2 R34Winsufficiently evaluated not reviewed, f=0.002unknown var-GS18502-1100-36-ASM
ADAM2 E99Ginsufficiently evaluated not reviewed, f=0.016unknown CGI sample GS00253-DNA_B02_200_37
var-GS19026-1100-36-ASM
ADAM2 A202Tinsufficiently evaluated not reviewed, f=0.006unknown var-GS19239-1100-36-ASM
ADAM2 G293Einsufficiently evaluated not reviewed, f=0.008unknown var-GS19025-1100-36-ASM
ADAM2 I546Minsufficiently evaluated none, f=0.008unknown var-GS18526-1100-36-ASM
ADAM2 F577Shiftinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_A04 from PGP sample 08188426
ADAM2 A637Shiftinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_B07 from PGP sample 61499538
ADAM2 R674Hinsufficiently evaluated not reviewed, f=0.000unknown
ADAM20 I75Shiftinsufficiently evaluated not reviewed, f=0.008unknown var-GS19240-1100-36-ASM
var-GS19238-1100-36-ASM
ADAM20 V259Ainsufficiently evaluated not reviewed, f=0.000unknown CGI sample GS00253-DNA_B02_200_37
ADAM20 Q281Kinsufficiently evaluated none, f=0.003unknown var-GS18517-1100-36-ASM
ADAM20 E299Ginsufficiently evaluated not reviewedunknown
ADAM20 W310Rinsufficiently evaluated not reviewed, f=0.002unknown var-GS19026-1100-36-ASM
ADAM20 C414Rinsufficiently evaluated not reviewedunknown
ADAM20 S440Ninsufficiently evaluated not reviewed, f=0.000unknown
ADAM20 Y450Cinsufficiently evaluated not reviewedunknown
ADAM20 E467Ginsufficiently evaluated not reviewedunknown
ADAM20 C497Rinsufficiently evaluated not reviewed, f=0.000unknown
ADAM20 C528Rinsufficiently evaluated not reviewedunknown
ADAM20 V541Ainsufficiently evaluated not reviewedunknown
ADAM20 Y554Cinsufficiently evaluated none, f=0.002unknown
ADAM20 N560Dinsufficiently evaluated none, f=0.017unknown var-GS19129-1100-36-ASM
var-GS19240-1100-36-ASM
var-GS19238-1100-36-ASM
ADAM20 G592Sinsufficiently evaluated not reviewed, f=0.008unknown var-GS18942-1100-36-ASM
ADAM20 C704Rinsufficiently evaluated not reviewedunknown
ADAM20 R742Hinsufficiently evaluated not reviewed, f=0.000unknown
ADAM21 S24Pinsufficiently evaluated none, f=0.026unknown

(1 web hit)

var-GS19703-1100-36-ASM
var-GS19129-1100-36-ASM
ADAM21 V73Iinsufficiently evaluated not reviewed, f=0.001unknown var-GS19834-1100-36-ASM
ADAM21 D95Einsufficiently evaluated none, f=0.709unknown CGI sample GS01669-DNA_C07 from PGP sample 74521372 (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
CGI sample GS01669-DNA_C05 from PGP sample 42408046 (hom)
var-GS19020-1100-36-ASM
CGI sample GS01173-DNA_F02 from PGP sample 70008981
hu34D5B9 exome (hom)
var-GS18504-1100-36-ASM (hom)
var-GS18558-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
CGI sample GS000006909
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
var-GS21767-1100-36-ASM (hom)
var-GS19704-1100-36-ASM
var-GS10851-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19649-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37 (hom)
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
var-GS19129-1100-36-ASM
var-GS18526-1100-36-ASM
hu728FFF build 36 substitution variants (hom)
var-GS18947-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS06994-1100-36-ASM (hom)
CGI sample GS00253-DNA_H01_200_37 (hom)
var-GS18508-1100-36-ASM
var-GS19669-1100-36-ASM
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
ADAM21 C109Sinsufficiently evaluated none, f=0.008unknown
ADAM21 A117Ginsufficiently evaluated none, f=0.076unknown var-GS19025-1100-36-ASM (hom)
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS19020-1100-36-ASM (hom)
var-GS19700-1100-36-ASM (hom)
var-GS18501-1100-36-ASM (hom)
var-GS19834-1100-36-ASM (hom)
var-GS18537-1100-36-ASM (hom)
CGI sample GS00253-DNA_B02_200_37
var-GS20502-1100-36-ASM (hom)
var-GS18505-1100-36-ASM
var-GS18940-1100-36-ASM
ADAM21 F129Cinsufficiently evaluated none, f=0.056unknown var-GS19670-1100-36-ASM
ADAM21 Y143Hinsufficiently evaluated none, f=0.006unknown
ADAM21 I161Vinsufficiently evaluated none, f=0.172unknown

(2 web hits)

PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS18504-1100-36-ASM
var-GS18558-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS19834-1100-36-ASM (hom)
var-GS19649-1100-36-ASM
var-GS18537-1100-36-ASM (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom)
CGI sample GS00253-DNA_F01_200_37
var-GS20502-1100-36-ASM
var-GS19129-1100-36-ASM
CGI sample GS00253-DNA_D01_200_37
var-GS18526-1100-36-ASM
CGI sample GS01173-DNA_A07 from PGP sample 96240009
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS19669-1100-36-ASM
var-GS18940-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
ADAM21 D219Delinsufficiently evaluated not reviewed, f=0.010unknown var-GS20509-1100-36-ASM
ADAM21 K247Qinsufficiently evaluated none, f=0.147unknown

(1 web hit)

var-GS18504-1100-36-ASM
var-GS18558-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424
var-GS19834-1100-36-ASM (hom)
var-GS18537-1100-36-ASM (hom)
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 (hom)
var-GS19129-1100-36-ASM
var-GS18526-1100-36-ASM
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01173-DNA_A07 from PGP sample 96240009
CGI sample GS01175-DNA_D03 from PGP sample 27486199
ADAM21 I315Minsufficiently evaluated not reviewed, f=0.008unknown var-GS18947-1100-36-ASM
ADAM21 E429Qinsufficiently evaluated none, f=0.036unknown CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS00253-DNA_B01_200_37
CGI sample GS00253-DNA_F01_200_37
var-GS19670-1100-36-ASM
ADAM21 H542Yinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B05 from PGP sample 83494370
ADAM21 H632Qinsufficiently evaluated noneunknown

(1 web hit)

ADAM21 G643Einsufficiently evaluated none, f=0.000unknown
ADAM21P1 S4Ginsufficiently evaluated not reviewed, f=0.461unknown var-GS19025-1100-36-ASM (hom)
var-GS18942-1100-36-ASM
var-GS19020-1100-36-ASM
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS18558-1100-36-ASM
var-GS19735-1100-36-ASM (hom)
var-GS10851-1100-36-ASM (hom)
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM (hom)
var-GS18555-1100-36-ASM
var-GS19648-1100-36-ASM
var-GS18537-1100-36-ASM (hom)
var-GS20502-1100-36-ASM
var-GS19240-1100-36-ASM
var-GS18526-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS18947-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS19670-1100-36-ASM
var-GS20509-1100-36-ASM
var-GS06985-1100-36-ASM
var-GS18517-1100-36-ASM
ADAM21P1 D49Delinsufficiently evaluated not reviewed, f=0.117unknown var-GS19701-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS19648-1100-36-ASM
var-GS19129-1100-36-ASM
var-GS20509-1100-36-ASM
var-GS06985-1100-36-ASM
ADAM21P1 R238Cinsufficiently evaluated not reviewed, f=0.100unknown hu3215A7 build 36 substitution variants (hom)
hu232307 build 36 substitution variants (hom)
var-GS18555-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS18940-1100-36-ASM
ADAM21P1 S330Ainsufficiently evaluated not reviewed, f=0.855unknown var-GS19025-1100-36-ASM (hom)
hu3215A7 build 36 substitution variants (hom)
var-GS18942-1100-36-ASM
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS18558-1100-36-ASM
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 (hom)
var-GS21767-1100-36-ASM (hom)
var-GS19704-1100-36-ASM (hom)
var-GS10851-1100-36-ASM (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)
var-GS19648-1100-36-ASM (hom)
var-GS18537-1100-36-ASM (hom)
var-GS20502-1100-36-ASM
var-GS19129-1100-36-ASM
var-GS19240-1100-36-ASM (hom)
var-GS18526-1100-36-ASM (hom)
hu728FFF build 36 substitution variants (hom)
var-GS18947-1100-36-ASM (hom)
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM (hom)
var-GS19670-1100-36-ASM (hom)
var-GS06994-1100-36-ASM (hom)
var-GS18508-1100-36-ASM (hom)
var-GS19669-1100-36-ASM (hom)
var-GS20509-1100-36-ASM (hom)
var-GS18940-1100-36-ASM
var-GS06985-1100-36-ASM (hom)
var-GS18956-1100-36-ASM
var-GS18517-1100-36-ASM (hom)
ADAM22 V5Ginsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_H06 from PGP sample 91708424
ADAM22 E46Vinsufficiently evaluated none, f=0.008unknown var-GS18956-1100-36-ASM
ADAM22 P81Rinsufficiently evaluated none, f=0.635unknown CGI sample GS00253-DNA_E01_200_37 (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
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
CGI sample GS01173-DNA_F02 from PGP sample 70008981
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 GS000006909 (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM
CGI sample GS000005532 (hom)
var-GS19703-1100-36-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
var-GS19701-1100-36-ASM (hom)
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS21767-1100-36-ASM (hom)
var-GS19704-1100-36-ASM (hom)
var-GS10851-1100-36-ASM
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 (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
var-GS19648-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37 (hom)
CGI sample GS00253-DNA_F01_200_37 (hom)
var-GS20502-1100-36-ASM (hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01175-DNA_D01 from PGP sample 31286272
var-GS19129-1100-36-ASM (hom)
var-GS19240-1100-36-ASM (hom)
hu728FFF build 36 substitution variants
var-GS18947-1100-36-ASM
var-GS18505-1100-36-ASM (hom)
var-GS19238-1100-36-ASM (hom)
var-GS19670-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37 (hom)
var-GS06994-1100-36-ASM
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
var-GS18508-1100-36-ASM (hom)
var-GS19026-1100-36-ASM (hom)
var-GS20509-1100-36-ASM
var-GS18940-1100-36-ASM
var-GS06985-1100-36-ASM (hom)
var-GS18517-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
ADAM22 H119Yinsufficiently evaluated not reviewed, f=0.003unknown var-GS19834-1100-36-ASM
ADAM22 V207Iinsufficiently evaluated not reviewed, f=0.059unknown

(11 web hits)

var-GS19700-1100-36-ASM
var-GS18504-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424
var-GS19701-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
CGI sample GS00253-DNA_F01_200_37
var-GS19670-1100-36-ASM
ADAM22 R513Linsufficiently evaluated not reviewed, f=0.008unknown var-GS18501-1100-36-ASM
ADAM22 N696Dinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_B07 from PGP sample 61499538
ADAM23 I118Minsufficiently evaluated not reviewed, f=0.003unknown var-GS19648-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
ADAM23 S125Ainsufficiently evaluated not reviewed, f=0.009unknown
ADAM28 Y28Cinsufficiently evaluated not reviewedunknown
ADAM28 N75Shiftinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_G02 from PGP sample 67180598
ADAM28 R148Linsufficiently evaluated unknown, f=0.013unknown hu3215A7 build 36 substitution variants
var-GS19701-1100-36-ASM
hu728FFF build 36 substitution variants
ADAM28 R219Minsufficiently evaluated none, f=0.043unknown var-GS19020-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS19701-1100-36-ASM
var-GS19704-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
var-GS18517-1100-36-ASM
ADAM28 V322Iinsufficiently evaluated not reviewed, f=0.001unknown var-GS19700-1100-36-ASM
ADAM28 N493Sinsufficiently evaluated unknown, f=0.015unknown hu3215A7 build 36 substitution variants
var-GS19701-1100-36-ASM
hu728FFF build 36 substitution variants
ADAM28 G500Rinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_F02 from PGP sample 40767107
ADAM28 A534Vinsufficiently evaluated unknownunknown hu728FFF build 36 substitution variants
ADAM28 G542Winsufficiently evaluated not reviewed, f=0.008unknown var-GS19735-1100-36-ASM
ADAM28 T593Kinsufficiently evaluated none, f=0.077unknown var-GS19025-1100-36-ASM
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu3215A7 build 36 substitution variants
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-GS18504-1100-36-ASM (hom)
var-GS19703-1100-36-ASM (hom)
var-GS12004-1100-36-ASM
var-GS19701-1100-36-ASM (hom)
var-GS19239-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS18555-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS00253-DNA_B01_200_37 (hom)
hu728FFF build 36 substitution variants
var-GS18940-1100-36-ASM
var-GS06985-1100-36-ASM
ADAM28 M684Iinsufficiently evaluated none, f=0.050unknown var-GS19025-1100-36-ASM
CGI sample GS01175-DNA_H01 from PGP sample 94797469
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-GS18504-1100-36-ASM
var-GS19703-1100-36-ASM (hom)
var-GS12004-1100-36-ASM
var-GS19701-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS18555-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS00253-DNA_B01_200_37 (hom)
var-GS19129-1100-36-ASM
var-GS18940-1100-36-ASM
var-GS06985-1100-36-ASM
ADAM28 K696Qinsufficiently evaluated unknown, f=0.015unknown hu3215A7 build 36 substitution variants
hu728FFF build 36 substitution variants
ADAM28 V765Minsufficiently evaluated none, f=0.977unknown 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
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)
ADAM29 T308Iinsufficiently evaluated not reviewed, f=0.001unknown var-GS18505-1100-36-ASM
ADAM29 R530Cinsufficiently evaluated not reviewed, f=0.008unknown CGI sample GS00253-DNA_G01_200_37
ADAM29 P627Sinsufficiently evaluated none, f=0.001unknown var-GS18942-1100-36-ASM
var-GS18558-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424
var-GS18555-1100-36-ASM (hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034
var-GS18526-1100-36-ASM
ADAM29 L691Delinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01175-DNA_H01 from PGP sample 94797469
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_B02_200_37
ADAM29 W735Rinsufficiently evaluated none, f=0.004unknown CGI sample GS01175-DNA_H01 from PGP sample 94797469
CGI sample GS01175-DNA_A04 from PGP sample 13272228
CGI sample GS00253-DNA_A01_200_37
ADAM29 H751Qinsufficiently evaluated none, f=0.001unknown
ADAM29 Q753Shiftinsufficiently evaluated not reviewed, f=0.008unknown
ADAM29 Q753Rinsufficiently evaluated none, f=0.003unknown

(1 web hit)

ADAM29 M773Tinsufficiently evaluated none, f=0.001unknown var-GS10851-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37
ADAM29 S777SHPQLTPSQSinsufficiently evaluated not reviewed, f=0.018unknown CGI sample GS01175-DNA_H01 from PGP sample 94797469
var-GS12004-1100-36-ASM
CGI sample GS01173-DNA_D06 from PGP sample 69488604
ADAM29 M782Tinsufficiently evaluated none, f=0.100unknown var-GS19020-1100-36-ASM
var-GS19700-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS19129-1100-36-ASM
var-GS19240-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM (hom)
var-GS18508-1100-36-ASM
ADAM29 L790Vinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_H06 from PGP sample 91708424
ADAM29 Q803Xinsufficiently evaluated not reviewedunknown hu34D5B9 exome
CGI sample GS01173-DNA_H06 from PGP sample 91708424
ADAM29 R804Sinsufficiently evaluated not reviewedunknown hu34D5B9 exome
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS01173-DNA_H06 from PGP sample 91708424
ADAM29 S813Ginsufficiently evaluated not reviewed, f=0.009unknown var-GS19239-1100-36-ASM
ADAM30 G132Cinsufficiently evaluated not reviewedunknown
ADAM30 N222Sinsufficiently evaluated not reviewedunknown hu34D5B9 exome
ADAM30 L359Pinsufficiently evaluated none, f=0.179unknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
var-GS19025-1100-36-ASM
CGI sample GS01669-DNA_F02 from PGP sample 40767107
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-ASM
var-GS19703-1100-36-ASM
hu232307 build 36 substitution variants
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261
var-GS18537-1100-36-ASM
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS01173-DNA_F06 from PGP sample 64191565
var-GS19129-1100-36-ASM (hom)
var-GS19240-1100-36-ASM
var-GS19238-1100-36-ASM (hom)
var-GS18508-1100-36-ASM
var-GS19669-1100-36-ASM
var-GS19026-1100-36-ASM (hom)
var-GS18517-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
ADAM30 C439Rinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_H06 from PGP sample 91708424
ADAM30 T737Ainsufficiently evaluated none, f=0.133unknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
var-GS19025-1100-36-ASM
CGI sample GS01669-DNA_F02 from PGP sample 40767107
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS19703-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS01173-DNA_F06 from PGP sample 64191565
var-GS19129-1100-36-ASM (hom)
var-GS19240-1100-36-ASM
var-GS19238-1100-36-ASM (hom)
var-GS18508-1100-36-ASM
var-GS19026-1100-36-ASM
var-GS18517-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
ADAM32 P390Linsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_C05 from PGP sample 42408046
ADAM32 T467Sinsufficiently evaluated none, f=0.961unknown CGI sample GS01175-DNA_H01 from PGP sample 94797469 (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)
hu34D5B9 exome (hom)
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-ASM
var-GS18558-1100-36-ASM (hom)
hu232307 build 36 substitution variants (hom)
var-GS21767-1100-36-ASM (hom)
var-GS10851-1100-36-ASM (hom)
CGI sample GS00253-DNA_A01_200_37 (hom)
var-GS19834-1100-36-ASM (hom)
var-GS18502-1100-36-ASM
var-GS18555-1100-36-ASM (hom)
var-GS18537-1100-36-ASM (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom)
var-GS20502-1100-36-ASM (hom)
var-GS19129-1100-36-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
var-GS06994-1100-36-ASM (hom)
CGI sample GS00253-DNA_H01_200_37 (hom)
CGI sample GS01173-DNA_B02 from PGP sample 94378523 (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)
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
ADAM32 N512Sinsufficiently evaluated not reviewed, f=0.008unknown var-GS12004-1100-36-ASM
ADAM32 V553Hinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_B03 from PGP sample 14427241
ADAM32 R656Hinsufficiently evaluated not reviewed, f=0.001unknown CGI sample GS00253-DNA_D01_200_37
ADAM32 M668Tinsufficiently evaluated not reviewed, f=0.038unknown var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM (hom)
CGI sample GS00253-DNA_B02_200_37
var-GS18505-1100-36-ASM
var-GS18508-1100-36-ASM
ADAM32 D778Einsufficiently evaluated not reviewed, f=0.107unknown var-GS19025-1100-36-ASM
var-GS19020-1100-36-ASM (hom)
var-GS19700-1100-36-ASM
var-GS19703-1100-36-ASM (hom)
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19240-1100-36-ASM (hom)
var-GS18505-1100-36-ASM (hom)
var-GS19238-1100-36-ASM
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
var-GS19026-1100-36-ASM
var-GS18956-1100-36-ASM
var-GS18517-1100-36-ASM
ADAM33 N109Sinsufficiently evaluated not reviewed, f=0.009unknown var-GS19701-1100-36-ASM
ADAM33 T178Ainsufficiently evaluated none, f=0.049unknown var-GS19020-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS07357-1100-36-ASM
CGI sample GS000005532
var-GS19704-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS20502-1100-36-ASM
var-GS18526-1100-36-ASM
var-GS18947-1100-36-ASM
var-GS18505-1100-36-ASM (hom)
var-GS19238-1100-36-ASM
ADAM33 W285Rinsufficiently evaluated noneunknown
ADAM33 P336Sinsufficiently evaluated none, f=0.038unknown

(8 web hits)

var-GS18501-1100-36-ASM
ADAM33 P414Sinsufficiently evaluated not reviewedunknown
ADAM33 A427Vinsufficiently evaluated not reviewed, f=0.008unknown var-GS19669-1100-36-ASM
ADAM33 W515Rinsufficiently evaluated not reviewed, f=0.022unknown var-GS19704-1100-36-ASM
ADAM33 M590Vinsufficiently evaluated none, f=0.007unknown var-GS19129-1100-36-ASM
ADAM33 V684Iinsufficiently evaluated noneunknown
ADAM33 V710Iinsufficiently evaluated none, f=0.066unknown hu34D5B9 exome
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228
CGI sample GS01173-DNA_D06 from PGP sample 69488604
CGI sample GS00253-DNA_B02_200_37
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01173-DNA_F06 from PGP sample 64191565 (hom)
CGI sample GS01173-DNA_B07 from PGP sample 61499538
ADAM33 M738Tinsufficiently evaluated noneunknown
ADAM33 P748Sinsufficiently evaluated noneunknown
ADAM33 M764Tinsufficiently evaluated none, f=0.130unknown var-GS19025-1100-36-ASM
var-GS19020-1100-36-ASM
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS19703-1100-36-ASM
var-GS19701-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS19649-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS00253-DNA_F01_200_37
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS00253-DNA_A02_200_37
var-GS06994-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01175-DNA_B04 from PGP sample 88590671
var-GS18508-1100-36-ASM
var-GS20509-1100-36-ASM
var-GS18940-1100-36-ASM
var-GS18517-1100-36-ASM
ADAM33 P774Sinsufficiently evaluated none, f=0.132unknown var-GS19025-1100-36-ASM
var-GS19020-1100-36-ASM
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS19703-1100-36-ASM
var-GS19701-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS19649-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS00253-DNA_F01_200_37
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS00253-DNA_A02_200_37
var-GS06994-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01175-DNA_B04 from PGP sample 88590671
var-GS18508-1100-36-ASM
var-GS20509-1100-36-ASM
var-GS18940-1100-36-ASM
var-GS18517-1100-36-ASM
ADAM33 Q804Shiftinsufficiently evaluated not reviewed, f=0.087unknown var-GS19025-1100-36-ASM
var-GS19020-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS07357-1100-36-ASM
var-GS20502-1100-36-ASM
var-GS18526-1100-36-ASM
var-GS18947-1100-36-ASM (hom)
var-GS18505-1100-36-ASM
ADAM3A F185Shiftinsufficiently evaluated not reviewedunknown

ADAM3A (aka CYRN1) is a nonfunctional pseudogene.

CGI sample GS00253-DNA_E01_200_37 (hom)
CGI sample GS000005532
CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom)
ADAM3A R215Ginsufficiently evaluated not reviewedunknown CGI sample GS00253-DNA_E01_200_37 (hom)
CGI sample GS01175-DNA_H01 from PGP sample 94797469
CGI sample GS01669-DNA_C05 from PGP sample 42408046 (hom)
CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
CGI sample GS000006909
CGI sample GS000005532
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom)
CGI sample GS01173-DNA_F06 from PGP sample 64191565 (hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS00253-DNA_A02_200_37 (hom)
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
CGI sample GS01175-DNA_B04 from PGP sample 88590671
ADAM3A S296Linsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B04 from PGP sample 88590671
ADAM3A N302Sinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
CGI sample GS000005532
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom)
ADAM3A L329Shiftinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_H01 from PGP sample 94797469
CGI sample GS01669-DNA_C05 from PGP sample 42408046 (hom)
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
CGI sample GS01175-DNA_B04 from PGP sample 88590671
ADAM3A R356Winsufficiently evaluated not reviewedunknown CGI sample GS00253-DNA_E01_200_37 (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
hu34D5B9 exome (hom)
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) (hom)
CGI sample GS000006909
CGI sample GS000005532 (hom)
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom)
CGI sample GS00253-DNA_G01_200_37 (hom)
CGI sample GS00253-DNA_A01_200_37 (hom)
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 (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom)
CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom)
CGI sample GS00253-DNA_F01_200_37 (hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
CGI sample GS00253-DNA_C01_200_37 (hom)
CGI sample GS00253-DNA_H01_200_37 (hom)
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
ADAM3A G372Sinsufficiently evaluated not reviewedunknown 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)
CGI sample GS000006909 (hom)
CGI sample GS000005532 (hom)
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
CGI sample GS00253-DNA_A01_200_37 (hom)
CGI sample GS00253-DNA_B02_200_37 (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)
CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom)
ADAM6 I42Tinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01173-DNA_F06 from PGP sample 64191565
ADAM6 C52Finsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_F06 from PGP sample 64191565
ADAM6 V85Finsufficiently evaluated not reviewed, f=0.017unknown var-GS12004-1100-36-ASM
ADAM6 M87Tinsufficiently evaluated not reviewed, f=0.516unknown CGI sample GS00253-DNA_E01_200_37 (hom)
CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01669-DNA_F02 from PGP sample 40767107 (hom)
CGI sample GS01175-DNA_H01 from PGP sample 94797469
CGI sample GS01669-DNA_C05 from PGP sample 42408046 (hom)
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS18558-1100-36-ASM (hom)
var-GS19735-1100-36-ASM
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom)
CGI sample GS000005532 (hom)
hu232307 build 36 substitution variants (hom)
var-GS12004-1100-36-ASM
CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom)
CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19239-1100-36-ASM (hom)
var-GS18537-1100-36-ASM
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 (hom)
CGI sample GS01175-DNA_D05 from PGP sample 1205491 (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
CGI sample GS00253-DNA_D01_200_37 (hom)
var-GS18947-1100-36-ASM (hom)
var-GS06994-1100-36-ASM (hom)
CGI sample GS00253-DNA_H01_200_37 (hom)
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01173-DNA_B02 from PGP sample 94378523 (hom)
CGI sample GS01173-DNA_A07 from PGP sample 96240009 (hom)
var-GS18940-1100-36-ASM (hom)
var-GS18956-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
ADAM6 A152Tinsufficiently evaluated not reviewedunknown CGI sample GS00253-DNA_C01_200_37 (hom)
ADAM6 R160Ginsufficiently evaluated not reviewedunknown CGI sample GS00253-DNA_C01_200_37 (hom)
CGI sample GS01173-DNA_B07 from PGP sample 61499538
ADAM6 V224Ainsufficiently evaluated not reviewed, f=0.009unknown var-GS18526-1100-36-ASM
ADAM6 I226Vinsufficiently evaluated not reviewed, f=0.019unknown var-GS18502-1100-36-ASM (hom)
ADAM6 V282Iinsufficiently evaluated not reviewed, f=0.026unknown var-GS10851-1100-36-ASM (hom)
ADAM7 E25Qinsufficiently evaluated not reviewed, f=0.010unknown

(7 web hits)

var-GS19700-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
ADAM7 T54Ainsufficiently evaluated not reviewedunknown

(1 web hit)

ADAM7 D118Ninsufficiently evaluated not reviewed, f=0.004unknown var-GS19700-1100-36-ASM
ADAM7 I205Vinsufficiently evaluated not reviewed, f=0.004unknown

(6 web hits)

CGI sample GS00253-DNA_B02_200_37
ADAM7 V244Minsufficiently evaluated none, f=0.257unknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_G03 from PGP sample 92527586 (hom)
CGI sample GS01175-DNA_H01 from PGP sample 94797469 (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
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS19735-1100-36-ASM
CGI sample GS000006909
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_G01_200_37
var-GS19701-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS21767-1100-36-ASM
var-GS10851-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37
var-GS18555-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom)
CGI sample GS00253-DNA_B01_200_37 (hom)
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 (hom)
CGI sample GS00253-DNA_D01_200_37 (hom)
hu728FFF build 36 substitution variants
var-GS18947-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom)
CGI sample GS01173-DNA_A07 from PGP sample 96240009
var-GS19669-1100-36-ASM
var-GS20509-1100-36-ASM
var-GS18940-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
ADAM7 V358Minsufficiently evaluated not reviewed, f=0.002unknown CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000005532
ADAM7 I453Tinsufficiently evaluated not reviewed, f=0.008unknown CGI sample GS01175-DNA_H01 from PGP sample 94797469
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS19735-1100-36-ASM
var-GS18940-1100-36-ASM
ADAM7 N638Hinsufficiently evaluated none, f=0.327unknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_G03 from PGP sample 92527586 (hom)
CGI sample GS01175-DNA_H01 from PGP sample 94797469 (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
var-GS19700-1100-36-ASM (hom)
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-ASM
var-GS19735-1100-36-ASM
CGI sample GS000006909
var-GS19703-1100-36-ASM
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_G01_200_37
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS21767-1100-36-ASM (hom)
var-GS19704-1100-36-ASM
var-GS10851-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37
var-GS19239-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS18555-1100-36-ASM
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
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS00253-DNA_F01_200_37 (hom)
CGI sample GS00253-DNA_D01_200_37 (hom)
var-GS19240-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS18947-1100-36-ASM
var-GS19238-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom)
CGI sample GS01173-DNA_A07 from PGP sample 96240009
var-GS19669-1100-36-ASM
var-GS20509-1100-36-ASM
var-GS18940-1100-36-ASM
var-GS18517-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
ADAM7 G682Sinsufficiently evaluated not reviewedunknown
ADAM7 L735Pinsufficiently evaluated not reviewed, f=0.025unknown

(7 web hits)

var-GS18501-1100-36-ASM
var-GS19703-1100-36-ASM
ADAM7 P738Linsufficiently evaluated none, f=0.001unknown var-GS19240-1100-36-ASM
var-GS19238-1100-36-ASM
ADAM8 R21Winsufficiently evaluated not reviewed, f=0.022unknown CGI sample GS000006909
CGI sample GS01173-DNA_A07 from PGP sample 96240009
var-GS06985-1100-36-ASM
ADAM8 W35Rinsufficiently evaluated none, f=0.905unknown CGI sample GS00253-DNA_E01_200_37
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 (hom)
var-GS19025-1100-36-ASM (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 (hom)
CGI sample GS01669-DNA_C05 from PGP sample 42408046
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)
var-GS19703-1100-36-ASM (hom)
hu232307 build 36 substitution variants (hom)
var-GS12004-1100-36-ASM
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
var-GS21767-1100-36-ASM (hom)
var-GS19704-1100-36-ASM (hom)
var-GS10851-1100-36-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-GS19649-1100-36-ASM
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
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)
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)
var-GS06994-1100-36-ASM
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
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
var-GS19026-1100-36-ASM
var-GS20509-1100-36-ASM
var-GS18940-1100-36-ASM (hom)
var-GS06985-1100-36-ASM (hom)
var-GS18956-1100-36-ASM (hom)
var-GS18517-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
ADAM8 L46Finsufficiently evaluated not reviewedunknown hu728FFF build 36 substitution variants (hom)
ADAM8 G101Rinsufficiently evaluated not reviewed, f=0.011unknown var-GS10851-1100-36-ASM
CGI sample GS01175-DNA_B04 from PGP sample 88590671
ADAM8 P115Linsufficiently evaluated not reviewed, f=0.001unknown var-GS18942-1100-36-ASM
ADAM8 R150Winsufficiently evaluated not reviewedunknown
ADAM8 R189Winsufficiently evaluated not reviewed, f=0.030unknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS000006909
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_F01_200_37
CGI sample GS01175-DNA_F02 from PGP sample 95788191
ADAM8 S274Rinsufficiently evaluated not reviewedunknown
ADAM8 S313Rinsufficiently evaluated not reviewed, f=0.008unknown
ADAM8 G360Sinsufficiently evaluated noneunknown
ADAM8 V410Shiftinsufficiently evaluated not reviewed, f=0.008unknown var-GS10851-1100-36-ASM
ADAM8 R433Cinsufficiently evaluated none, f=0.024unknown var-GS19701-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19129-1100-36-ASM
ADAM8 G501Dinsufficiently evaluated not reviewed, f=0.002unknown var-GS18502-1100-36-ASM
ADAM8 M548Shiftinsufficiently evaluated not reviewed, f=0.008unknown CGI sample GS00253-DNA_F01_200_37
var-GS18526-1100-36-ASM
ADAM8 E587Kinsufficiently evaluated not reviewed, f=0.008unknown var-GS19025-1100-36-ASM
ADAM8 F592Linsufficiently evaluated not reviewedunknown hu728FFF build 36 substitution variants (hom)
ADAM8 F657Linsufficiently evaluated none, f=0.797unknown 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 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)
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
CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom)
var-GS19700-1100-36-ASM (hom)
var-GS18501-1100-36-ASM
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
hu232307 build 36 substitution variants (hom)
var-GS12004-1100-36-ASM
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
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
var-GS19239-1100-36-ASM (hom)
var-GS19017-1100-36-ASM (hom)
var-GS19649-1100-36-ASM
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
CGI sample GS01669-DNA_H05 from PGP sample 10971581
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
CGI sample GS00253-DNA_D01_200_37 (hom)
var-GS19240-1100-36-ASM
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-GS19238-1100-36-ASM
var-GS19670-1100-36-ASM (hom)
CGI sample GS00253-DNA_A02_200_37 (hom)
var-GS06994-1100-36-ASM
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
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
var-GS19669-1100-36-ASM
var-GS20509-1100-36-ASM
var-GS18940-1100-36-ASM (hom)
var-GS06985-1100-36-ASM (hom)
var-GS18956-1100-36-ASM (hom)
var-GS18517-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
ADAM8 P719Linsufficiently evaluated not reviewed, f=0.000unknown var-GS18555-1100-36-ASM
ADAM8 G722Vinsufficiently evaluated not reviewed, f=0.008unknown var-GS18555-1100-36-ASM
ADAM8 P739Linsufficiently evaluated not reviewed, f=0.009unknown var-GS18537-1100-36-ASM
ADAM8 I775Tinsufficiently evaluated none, f=0.078unknown var-GS19025-1100-36-ASM
var-GS19020-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS18502-1100-36-ASM (hom)
CGI sample GS00253-DNA_B02_200_37
var-GS19129-1100-36-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
ADAM8 E819Shiftinsufficiently evaluated not reviewed, f=0.048unknown var-GS19025-1100-36-ASM (hom)
var-GS18942-1100-36-ASM (hom)
var-GS19020-1100-36-ASM (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)
var-GS07357-1100-36-ASM (hom)
var-GS19703-1100-36-ASM (hom)
var-GS12004-1100-36-ASM (hom)
var-GS19701-1100-36-ASM (hom)
var-GS21767-1100-36-ASM (hom)
var-GS19704-1100-36-ASM (hom)
var-GS10851-1100-36-ASM (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)
var-GS19648-1100-36-ASM (hom)
var-GS18537-1100-36-ASM (hom)
var-GS20502-1100-36-ASM (hom)
var-GS19129-1100-36-ASM (hom)
var-GS19240-1100-36-ASM (hom)
var-GS18526-1100-36-ASM (hom)
var-GS18947-1100-36-ASM (hom)
var-GS18505-1100-36-ASM (hom)
var-GS19238-1100-36-ASM (hom)
var-GS19670-1100-36-ASM
var-GS06994-1100-36-ASM (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
var-GS06985-1100-36-ASM (hom)
var-GS18956-1100-36-ASM (hom)
var-GS18517-1100-36-ASM (hom)
ADAM9 E76Kinsufficiently evaluated not reviewed, f=0.005unknown var-GS19700-1100-36-ASM
CGI sample GS01175-DNA_D01 from PGP sample 31286272
ADAM9 A234Vinsufficiently evaluated not reviewed, f=0.047unknown var-GS18504-1100-36-ASM (hom)
var-GS19704-1100-36-ASM (hom)
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
var-GS18505-1100-36-ASM
var-GS18508-1100-36-ASM
ADAM9 R256Xinsufficiently evaluated pathogenicunknown
ADAM9 G282Rinsufficiently evaluated not reviewedunknown CGI sample GS00253-DNA_F01_200_37
ADAM9 N283Kinsufficiently evaluated not reviewed, f=0.008unknown
ADAM9 E289Vinsufficiently evaluated not reviewedunknown
ADAM9 V338Ainsufficiently evaluated not reviewed, f=0.008unknown var-GS19700-1100-36-ASM
ADAM9 R490Xinsufficiently evaluated pathogenicunknown
ADAM9 V543Shiftinsufficiently evaluated not reviewed, f=0.008unknown
ADAM9 D548Ginsufficiently evaluated not reviewed, f=0.008unknown
ADAM9 T593Minsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_H05 from PGP sample 10971581
ADAM9 V707Iinsufficiently evaluated none, f=0.008unknown var-GS18555-1100-36-ASM
ADAMDEC1 I2Tinsufficiently evaluated not reviewedunknown
ADAMDEC1 M42Tinsufficiently evaluated not reviewedunknown
ADAMDEC1 I44Rinsufficiently evaluated not reviewed, f=0.007unknown var-GS18505-1100-36-ASM
var-GS19670-1100-36-ASM
ADAMDEC1 I81Tinsufficiently evaluated not reviewed, f=0.027unknown var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS19703-1100-36-ASM (hom)
CGI sample GS00253-DNA_B02_200_37 (hom)
ADAMDEC1 M121Tinsufficiently evaluated not reviewed, f=0.030unknown var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS19703-1100-36-ASM (hom)
CGI sample GS00253-DNA_B02_200_37 (hom)
ADAMDEC1 P360Sinsufficiently evaluated not reviewedunknown
ADAMDEC1 N365Sinsufficiently evaluated noneunknown hu728FFF build 36 substitution variants
ADAMDEC1 R393Hinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_G03 from PGP sample 92527586
ADAMDEC1 P439Sinsufficiently evaluated not reviewed, f=0.017unknown var-GS18501-1100-36-ASM
var-GS19703-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
ADAMDEC1 N444Sinsufficiently evaluated none, f=0.341unknown 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 (hom)
var-GS18942-1100-36-ASM
CGI sample GS01669-DNA_C05 from PGP sample 42408046 (hom)
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS19735-1100-36-ASM
CGI sample GS000006909 (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM
CGI sample GS000005532
var-GS12004-1100-36-ASM
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_G01_200_37
var-GS19701-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS21767-1100-36-ASM
var-GS10851-1100-36-ASM
var-GS18555-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS00253-DNA_B01_200_37 (hom)
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom)
CGI sample GS00253-DNA_F01_200_37
CGI sample GS00253-DNA_D01_200_37 (hom)
CGI sample GS00253-DNA_C01_200_37
hu728FFF build 36 substitution variants
var-GS18947-1100-36-ASM
var-GS19670-1100-36-ASM
var-GS06994-1100-36-ASM
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
CGI sample GS01173-DNA_A07 from PGP sample 96240009
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
var-GS19669-1100-36-ASM
var-GS20509-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
ADAMTS1 H71Dinsufficiently evaluated not reviewedunknown
ADAMTS1 A227Pinsufficiently evaluated none, f=0.811unknown CGI sample GS00253-DNA_E01_200_37
CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01173-DNA_C02 from PGP sample 10366372
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
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome (hom)
hu3215A7 build 36 substitution variants
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)
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-ASM (hom)
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909
var-GS07357-1100-36-ASM (hom)
CGI sample GS000005532 (hom)
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 GS01669-DNA_B03 from PGP sample 14427241 (hom)
CGI sample GS00253-DNA_G01_200_37 (hom)
var-GS19701-1100-36-ASM (hom)
var-GS21767-1100-36-ASM (hom)
var-GS19704-1100-36-ASM
var-GS10851-1100-36-ASM (hom)
CGI sample GS00253-DNA_A01_200_37 (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
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
var-GS19648-1100-36-ASM (hom)
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 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_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
var-GS19129-1100-36-ASM (hom)
CGI sample GS00253-DNA_D01_200_37 (hom)
CGI sample GS00253-DNA_C01_200_37 (hom)
var-GS18526-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS18505-1100-36-ASM (hom)
var-GS19238-1100-36-ASM
var-GS19670-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
var-GS06994-1100-36-ASM (hom)
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01175-DNA_F02 from PGP sample 95788191 (hom)
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
var-GS19026-1100-36-ASM
var-GS20509-1100-36-ASM (hom)
var-GS06985-1100-36-ASM (hom)
var-GS18956-1100-36-ASM
var-GS18517-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
ADAMTS1 V678Iinsufficiently evaluated not reviewed, f=0.000unknown CGI sample GS00253-DNA_B02_200_37
ADAMTS1 R703Hinsufficiently evaluated none, f=0.045unknown CGI sample GS00253-DNA_E01_200_37
var-GS19700-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS01175-DNA_B05 from PGP sample 83494370
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228
CGI sample GS01669-DNA_D02 from PGP sample 27316983
var-GS18947-1100-36-ASM
var-GS19670-1100-36-ASM
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS19026-1100-36-ASM
var-GS18940-1100-36-ASM
ADAMTS1 R756Qinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_F02 from PGP sample 40767107
ADAMTS1 D782Ginsufficiently evaluated none, f=0.003unknown var-GS07357-1100-36-ASM
ADAMTS1 D939Ginsufficiently evaluated none, f=0.008unknown

(1 web hit)

var-GS18956-1100-36-ASM
ADAMTS1 K952Ninsufficiently evaluated noneunknown
ADAMTS1 K952Xinsufficiently evaluated noneunknown
ADAMTS1 K953Iinsufficiently evaluated noneunknown
ADAMTS10 A25Tinsufficiently evaluated pathogenicunknown

(1 web hit)

ADAMTS10 R27Winsufficiently evaluated not reviewed, f=0.000unknown
ADAMTS10 R62Qinsufficiently evaluated not reviewed, f=0.031unknown var-GS07357-1100-36-ASM
CGI sample GS000005532
CGI sample GS01669-DNA_B03 from PGP sample 14427241
var-GS10851-1100-36-ASM
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_D05 from PGP sample 1205491
ADAMTS10 E73Kinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_H01 from PGP sample 94797469
ADAMTS10 R119Qinsufficiently evaluated not reviewed, f=0.001unknown var-GS19735-1100-36-ASM
ADAMTS10 T134Sinsufficiently evaluated not reviewed, f=0.787unknown

(1 web hit)

CGI sample GS00253-DNA_E01_200_37
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
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)
var-GS18942-1100-36-ASM (hom)
CGI sample GS01669-DNA_C05 from PGP sample 42408046 (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
var-GS07357-1100-36-ASM (hom)
var-GS19703-1100-36-ASM (hom)
hu232307 build 36 substitution variants (hom)
var-GS12004-1100-36-ASM
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 (hom)
var-GS19704-1100-36-ASM
var-GS10851-1100-36-ASM (hom)
CGI sample GS00253-DNA_A01_200_37 (hom)
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19834-1100-36-ASM (hom)
var-GS18502-1100-36-ASM (hom)
var-GS19649-1100-36-ASM (hom)
var-GS18555-1100-36-ASM (hom)
var-GS19648-1100-36-ASM (hom)
var-GS18537-1100-36-ASM (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983
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
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-GS18526-1100-36-ASM (hom)
hu728FFF build 36 substitution variants (hom)
var-GS18947-1100-36-ASM
var-GS18505-1100-36-ASM (hom)
var-GS06994-1100-36-ASM
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom)
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 (hom)
var-GS18508-1100-36-ASM (hom)
var-GS19669-1100-36-ASM (hom)
var-GS19026-1100-36-ASM (hom)
var-GS20509-1100-36-ASM
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)
ADAMTS10 R237Xinsufficiently evaluated pathogenicunknown

(15 web hits)

ADAMTS10 Q318Xinsufficiently evaluated pathogenicunknown
ADAMTS10 S447Linsufficiently evaluated not reviewed, f=0.000unknown CGI sample GS000005532
ADAMTS10 L808Rinsufficiently evaluated not reviewed, f=0.030unknown var-GS19703-1100-36-ASM
var-GS19701-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS19239-1100-36-ASM
ADAMTS10 P826Hinsufficiently evaluated not reviewed, f=0.000unknown var-GS19703-1100-36-ASM
ADAMTS10 A862Sinsufficiently evaluated not reviewed, f=0.033unknown

(1 web hit)

hu3215A7 build 36 substitution variants
var-GS19703-1100-36-ASM
var-GS19701-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS19239-1100-36-ASM
hu728FFF build 36 substitution variants (hom)
ADAMTS10 A949Tinsufficiently evaluated not reviewed, f=0.001unknown var-GS18505-1100-36-ASM
ADAMTS10 G1065Sinsufficiently evaluated none, f=0.006unknown var-GS19129-1100-36-ASM
ADAMTS10 H1101Qinsufficiently evaluated not reviewed, 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 GS01173-DNA_F06 from PGP sample 64191565 (hom)
CGI sample GS01175-DNA_D05 from PGP sample 1205491 (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)
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)
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)
ADAMTS12 L9Finsufficiently evaluated none, f=0.020unknown CGI sample GS00253-DNA_E01_200_37
CGI sample GS00253-DNA_D01_200_37
var-GS19026-1100-36-ASM
ADAMTS12 Q110Einsufficiently evaluated none, f=0.011unknown var-GS21767-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS18517-1100-36-ASM
ADAMTS12 T154Minsufficiently evaluated none, f=0.008unknown
ADAMTS12 T487Iinsufficiently evaluated none, f=0.008unknown var-GS19129-1100-36-ASM
ADAMTS12 L499Qinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
ADAMTS12 R705Kinsufficiently evaluated none, f=0.005unknown
ADAMTS12 L721Shiftinsufficiently evaluated not reviewed, f=0.008unknown CGI sample GS00253-DNA_H01_200_37
ADAMTS12 G738Rinsufficiently evaluated not reviewedunknown
ADAMTS12 R856Hinsufficiently evaluated not reviewed, f=0.005unknown
ADAMTS12 R1000Qinsufficiently evaluated none, f=0.007unknown

(6 web hits)

var-GS18517-1100-36-ASM
ADAMTS12 N1012Sinsufficiently evaluated not reviewed, f=0.007unknown var-GS19703-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS18508-1100-36-ASM
ADAMTS12 P1025Sinsufficiently evaluated not reviewed, f=0.000unknown
ADAMTS12 W1177Rinsufficiently evaluated none, f=0.078unknown CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS10851-1100-36-ASM
var-GS19649-1100-36-ASM
var-GS19648-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
hu728FFF build 36 substitution variants
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01175-DNA_D03 from PGP sample 27486199
ADAMTS12 T1201Iinsufficiently evaluated none, f=0.009unknown var-GS19700-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS18502-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
var-GS19129-1100-36-ASM
ADAMTS12 T1241Ainsufficiently evaluated not reviewed, f=0.001unknown CGI sample GS00253-DNA_B02_200_37
ADAMTS12 K1270Ninsufficiently evaluated not reviewedunknown
ADAMTS12 D1393Einsufficiently evaluated not reviewed, f=0.010unknown var-GS19703-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS18508-1100-36-ASM
ADAMTS12 P1414Ainsufficiently evaluated not reviewed, f=0.008unknown var-GS18940-1100-36-ASM
ADAMTS12 P1414Tinsufficiently evaluated not reviewed, f=0.026unknown var-GS19648-1100-36-ASM
ADAMTS12 E1422Qinsufficiently evaluated not reviewed, f=0.026unknown var-GS19648-1100-36-ASM
ADAMTS12 N1468Sinsufficiently evaluated none, f=0.002unknown CGI sample GS01175-DNA_H01 from PGP sample 94797469
CGI sample GS01669-DNA_B05 from PGP sample 86486261
ADAMTS12 T1495Iinsufficiently evaluated none, f=0.461unknown CGI sample GS00253-DNA_E01_200_37
CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01175-DNA_G03 from PGP sample 92527586 (hom)
var-GS19025-1100-36-ASM
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu3215A7 build 36 substitution variants (hom)
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS18942-1100-36-ASM
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-GS18504-1100-36-ASM (hom)
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
CGI sample GS000005532
var-GS19703-1100-36-ASM
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 (hom)
var-GS10851-1100-36-ASM
CGI sample GS01173-DNA_D06 from PGP sample 69488604 (hom)
var-GS19834-1100-36-ASM (hom)
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM (hom)
var-GS19649-1100-36-ASM
var-GS18555-1100-36-ASM (hom)
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
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 GS01175-DNA_B01 from PGP sample 86206034
var-GS19129-1100-36-ASM
var-GS19240-1100-36-ASM (hom)
var-GS18526-1100-36-ASM
hu728FFF build 36 substitution variants (hom)
var-GS18947-1100-36-ASM
var-GS18505-1100-36-ASM (hom)
var-GS19238-1100-36-ASM (hom)
CGI sample GS00253-DNA_A02_200_37 (hom)
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_A07 from PGP sample 96240009
var-GS18508-1100-36-ASM (hom)
var-GS19669-1100-36-ASM (hom)
var-GS19026-1100-36-ASM
var-GS20509-1100-36-ASM
var-GS18940-1100-36-ASM
var-GS06985-1100-36-ASM
var-GS18956-1100-36-ASM
var-GS18517-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
ADAMTS12 S1591Pinsufficiently evaluated not reviewed, f=0.073unknown var-GS19025-1100-36-ASM
var-GS19020-1100-36-ASM
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS19703-1100-36-ASM
var-GS19701-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS18502-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
var-GS19026-1100-36-ASM
ADAMTS13 R7Winsufficiently evaluated none, f=0.099unknown

(39 web hits)

CGI sample GS00253-DNA_E01_200_37 (hom)
CGI sample GS01669-DNA_C07 from PGP sample 74521372
var-GS19020-1100-36-ASM
var-GS18504-1100-36-ASM
CGI sample GS01175-DNA_B05 from PGP sample 83494370
hu232307 build 36 substitution variants
var-GS19017-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
var-GS19129-1100-36-ASM (hom)
CGI sample GS00253-DNA_A02_200_37
CGI sample GS01173-DNA_A07 from PGP sample 96240009
ADAMTS13 R73RQRinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_A04 from PGP sample 08188426
ADAMTS13 H96Dinsufficiently evaluated pathogenicunknown

(14 web hits)

ADAMTS13 R102Cinsufficiently evaluated pathogenicunknown

(12 web hits)

ADAMTS13 T196Iinsufficiently evaluated pathogenic, f=0.000unknown

(13 web hits)

ADAMTS13 A250Vinsufficiently evaluated pathogenicunknown

(13 web hits)

ADAMTS13 R268Pinsufficiently evaluated pathogenicunknown

(25 web hits)

ADAMTS13 T339Rinsufficiently evaluated not reviewed, f=0.000unknown var-GS18537-1100-36-ASM
ADAMTS13 P341Linsufficiently evaluated not reviewed, f=0.009unknown var-GS19704-1100-36-ASM
var-GS18505-1100-36-ASM
ADAMTS13 R398Hinsufficiently evaluated pathogenicunknown

(17 web hits)

ADAMTS13 Q417Einsufficiently evaluated noneunknown
ADAMTS13 Q425Hinsufficiently evaluated unknownunknown hu728FFF build 36 substitution variants
ADAMTS13 P426Linsufficiently evaluated noneunknown

(2 web hits)

ADAMTS13 Q448Einsufficiently evaluated none, f=0.297unknown

(49 web hits)

CGI sample GS00253-DNA_E01_200_37
CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01669-DNA_F02 from PGP sample 40767107 (hom)
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome
var-GS18942-1100-36-ASM
CGI sample GS01669-DNA_C05 from PGP sample 42408046 (hom)
var-GS18501-1100-36-ASM
var-GS19735-1100-36-ASM (hom)
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom)
CGI sample GS000005532
hu232307 build 36 substitution variants
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom)
var-GS19834-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS00253-DNA_F01_200_37
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034
var-GS18526-1100-36-ASM (hom)
var-GS19670-1100-36-ASM
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_A07 from PGP sample 96240009
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
var-GS19669-1100-36-ASM
var-GS18940-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
ADAMTS13 Q449Xinsufficiently evaluated pathogenicunknown

(5 web hits)

ADAMTS13 Q456Hinsufficiently evaluated unknown, f=0.017unknown

(5 web hits)

hu3215A7 build 36 substitution variants
var-GS18502-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS19026-1100-36-ASM
ADAMTS13 P457Linsufficiently evaluated pathogenic, f=0.002recessive

This variant was seen in a 20yo female with Thrombotic thrombocytopenic purpura together with P353L. Onset was 18yo, no affected family members, also suffers from epileptic seizures.

(12 web hits)

ADAMTS13 P475Sinsufficiently evaluated pathogenic, f=0.001unknown

(91 web hits)

var-GS18942-1100-36-ASM
ADAMTS13 R528Ginsufficiently evaluated pathogenicunknown

(11 web hits)

ADAMTS13 P587Ainsufficiently evaluated noneunknown
ADAMTS13 P618Ainsufficiently evaluated none, f=0.063unknown

(43 web hits)

CGI sample GS00253-DNA_E01_200_37
CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01175-DNA_B05 from PGP sample 83494370
hu232307 build 36 substitution variants
var-GS18537-1100-36-ASM
CGI sample GS01173-DNA_A07 from PGP sample 96240009
ADAMTS13 R625Hinsufficiently evaluated not reviewed, f=0.027unknown var-GS19703-1100-36-ASM
var-GS21767-1100-36-ASM
ADAMTS13 R692Cinsufficiently evaluated pathogenicunknown

(18 web hits)

ADAMTS13 E709Kinsufficiently evaluated unknownunknown hu728FFF build 36 substitution variants
ADAMTS13 A732Vinsufficiently evaluated not reviewed, f=0.011unknown hu232307 build 36 substitution variants
ADAMTS13 E740Kinsufficiently evaluated unknown, f=0.012unknown

(1 web hit)

hu3215A7 build 36 substitution variants
var-GS18502-1100-36-ASM
hu728FFF build 36 substitution variants
ADAMTS13 P744Shiftinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_F02 from PGP sample 70008981
ADAMTS13 V832Minsufficiently evaluated not reviewed, f=0.004unknown var-GS19703-1100-36-ASM
ADAMTS13 A869Vinsufficiently evaluated noneunknown
ADAMTS13 S872Linsufficiently evaluated noneunknown
ADAMTS13 A900Vinsufficiently evaluated none, f=0.113unknown

(14 web hits)

PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS18504-1100-36-ASM
CGI sample GS00253-DNA_B01_200_37
var-GS19129-1100-36-ASM (hom)
var-GS06994-1100-36-ASM
CGI sample GS01175-DNA_B04 from PGP sample 88590671
var-GS18508-1100-36-ASM
var-GS19026-1100-36-ASM
ADAMTS13 S903Linsufficiently evaluated none, f=0.000unknown

(38 web hits)

var-GS18555-1100-36-ASM
ADAMTS13 C951Ginsufficiently evaluated pathogenicunknown

(11 web hits)

ADAMTS13 A1002Tinsufficiently evaluated not reviewedunknown
ADAMTS13 C1024Ginsufficiently evaluated pathogenic, f=0.000unknown

(10 web hits)

ADAMTS13 A1033Tinsufficiently evaluated not reviewed, f=0.028unknown

(8 web hits)

var-GS19020-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS00253-DNA_A02_200_37
ADAMTS13 R1096Hinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_F02 from PGP sample 40767107
ADAMTS13 C1213Yinsufficiently evaluated pathogenicunknown

(25 web hits)

ADAMTS14 H79Yinsufficiently evaluated none, f=0.018unknown var-GS19020-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS19129-1100-36-ASM
ADAMTS14 G114Rinsufficiently evaluated not reviewed, f=0.008unknown var-GS18526-1100-36-ASM
ADAMTS14 G156Einsufficiently evaluated noneunknown
ADAMTS14 D184Ninsufficiently evaluated not reviewed, f=0.021unknown

(1 web hit)

var-GS19020-1100-36-ASM
var-GS19703-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS19026-1100-36-ASM
ADAMTS14 R192Qinsufficiently evaluated not reviewedunknown

(4 web hits)

ADAMTS14 R192Winsufficiently evaluated none, f=0.000unknown

(7 web hits)

var-GS18537-1100-36-ASM
ADAMTS14 S270Linsufficiently evaluated not reviewed, f=0.016unknown CGI sample GS01173-DNA_G02 from PGP sample 67180598
var-GS19026-1100-36-ASM
ADAMTS14 H303Rinsufficiently evaluated not reviewed, f=0.002unknown var-GS18504-1100-36-ASM
ADAMTS14 A350Hinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_H01 from PGP sample 94797469
ADAMTS14 E351Dinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS01175-DNA_A04 from PGP sample 13272228
CGI sample GS01175-DNA_F02 from PGP sample 95788191
ADAMTS14 H352Ninsufficiently evaluated not reviewed, f=0.008unknown
ADAMTS14 L590Pinsufficiently evaluated noneunknown hu728FFF build 36 substitution variants (hom)
ADAMTS14 L593Pinsufficiently evaluated none, f=0.808unknown 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
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)
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
var-GS18504-1100-36-ASM
var-GS18558-1100-36-ASM (hom)
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 (hom)
var-GS19703-1100-36-ASM
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM (hom)
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
CGI sample GS00253-DNA_G01_200_37 (hom)
var-GS19701-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228
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-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19649-1100-36-ASM
var-GS18555-1100-36-ASM (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
var-GS19648-1100-36-ASM
var-GS18537-1100-36-ASM (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_B02_200_37
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
CGI sample GS01175-DNA_D05 from PGP sample 1205491
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
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 (hom)
var-GS19670-1100-36-ASM (hom)
CGI sample GS00253-DNA_A02_200_37 (hom)
var-GS06994-1100-36-ASM
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
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
var-GS19026-1100-36-ASM
var-GS20509-1100-36-ASM (hom)
var-GS18940-1100-36-ASM (hom)
var-GS06985-1100-36-ASM (hom)
var-GS18956-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
ADAMTS14 YE613SQinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_H05 from PGP sample 10971581
ADAMTS14 Y677Hinsufficiently evaluated not reviewedunknown
ADAMTS14 Y680Hinsufficiently evaluated not reviewedunknown
ADAMTS14 P815Rinsufficiently evaluated not reviewed, f=0.008unknown var-GS18537-1100-36-ASM
ADAMTS14 T817Ainsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_B02 from PGP sample 94378523
ADAMTS14 R879Cinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_D01 from PGP sample 31286272
ADAMTS14 L937Minsufficiently evaluated noneunknown hu728FFF build 36 substitution variants
ADAMTS14 L937Vinsufficiently evaluated not reviewedunknown

(9 web hits)

ADAMTS14 L940Minsufficiently evaluated none, f=0.192unknown CGI sample GS00253-DNA_E01_200_37
CGI sample GS01669-DNA_F02 from PGP sample 40767107
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS18558-1100-36-ASM
var-GS07357-1100-36-ASM
var-GS19703-1100-36-ASM
var-GS12004-1100-36-ASM (hom)
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS10851-1100-36-ASM (hom)
CGI sample GS00253-DNA_A01_200_37
var-GS19834-1100-36-ASM
var-GS18555-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS00253-DNA_C01_200_37
hu728FFF build 36 substitution variants
var-GS18947-1100-36-ASM
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS20509-1100-36-ASM
var-GS06985-1100-36-ASM
ADAMTS14 L940Vinsufficiently evaluated not reviewedunknown

(9 web hits)

ADAMTS14 N944Sinsufficiently evaluated not reviewed, f=0.001unknown CGI sample GS01173-DNA_G02 from PGP sample 67180598
var-GS06985-1100-36-ASM
ADAMTS14 P951Linsufficiently evaluated not reviewed, f=0.001unknown var-GS18502-1100-36-ASM
ADAMTS14 S1017Ninsufficiently evaluated noneunknown
ADAMTS14 S1020Ninsufficiently evaluated none, f=0.164unknown var-GS19025-1100-36-ASM
CGI sample GS01669-DNA_F02 from PGP sample 40767107
hu34D5B9 exome
var-GS18942-1100-36-ASM (hom)
var-GS19020-1100-36-ASM
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS18558-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370
hu232307 build 36 substitution variants
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS21767-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37
var-GS19649-1100-36-ASM
var-GS19648-1100-36-ASM
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 GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS01175-DNA_B01 from PGP sample 86206034
var-GS19129-1100-36-ASM
var-GS19240-1100-36-ASM
var-GS18526-1100-36-ASM (hom)
var-GS18505-1100-36-ASM (hom)
var-GS19238-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS06985-1100-36-ASM
var-GS18956-1100-36-ASM (hom)
ADAMTS14 E1049Ginsufficiently evaluated noneunknown
ADAMTS14 E1052Ginsufficiently evaluated none, f=0.169unknown var-GS19025-1100-36-ASM
CGI sample GS01669-DNA_F02 from PGP sample 40767107
hu34D5B9 exome
var-GS18942-1100-36-ASM (hom)
var-GS19020-1100-36-ASM
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS18558-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370
hu232307 build 36 substitution variants
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS21767-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37
var-GS19649-1100-36-ASM
var-GS19648-1100-36-ASM
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 GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS01175-DNA_B01 from PGP sample 86206034
var-GS19129-1100-36-ASM
var-GS19240-1100-36-ASM
var-GS18526-1100-36-ASM (hom)
var-GS18505-1100-36-ASM (hom)
var-GS19238-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS06985-1100-36-ASM
var-GS18956-1100-36-ASM (hom)
ADAMTS14 P1106Linsufficiently evaluated not reviewedunknown
ADAMTS14 P1108Sinsufficiently evaluated noneunknown hu728FFF build 36 substitution variants
ADAMTS14 P1109Linsufficiently evaluated not reviewed, f=0.061unknown hu34D5B9 exome
hu3215A7 build 36 substitution variants
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000005532
var-GS19704-1100-36-ASM
CGI sample GS01173-DNA_D06 from PGP sample 69488604
CGI sample GS01175-DNA_D01 from PGP sample 31286272
var-GS06994-1100-36-ASM
CGI sample GS01175-DNA_F02 from PGP sample 95788191
ADAMTS14 P1111Sinsufficiently evaluated none, f=0.076unknown PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS18558-1100-36-ASM
CGI sample GS000005532
var-GS19703-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424
var-GS18555-1100-36-ASM
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 GS01175-DNA_D01 from PGP sample 31286272
hu728FFF build 36 substitution variants
CGI sample GS01175-DNA_F02 from PGP sample 95788191
var-GS19669-1100-36-ASM
Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40
Total results: 736
(Only displaying first 400 results)

Gene search

"GENE" or "GENE A123C":

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