GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
TH V81Minsufficiently evaluated not reviewedunknown

(306 web hits)

hu728FFF build 36 substitution variants (hom)
TH V108Minsufficiently evaluated not reviewed, f=0.290unknown

(30 web hits)

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
CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome
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 GS000006909 (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
CGI sample GS00253-DNA_A01_200_37 (hom)
CGI sample GS01173-DNA_D06 from PGP sample 69488604 (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
CGI sample GS00253-DNA_H01_200_37
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
hu728FFF build 36 substitution variants (hom)
TH V112Minsufficiently evaluated not reviewed, f=0.359unknown

(19 web hits)

var-GS18942-1100-36-ASM
var-GS18558-1100-36-ASM (hom)
var-GS19735-1100-36-ASM (hom)
var-GS12004-1100-36-ASM
var-GS19701-1100-36-ASM
var-GS10851-1100-36-ASM (hom)
var-GS19017-1100-36-ASM
var-GS19649-1100-36-ASM (hom)
var-GS18555-1100-36-ASM (hom)
var-GS18537-1100-36-ASM (hom)
var-GS20502-1100-36-ASM (hom)
var-GS18526-1100-36-ASM (hom)
hu728FFF build 36 substitution variants (hom)
var-GS18947-1100-36-ASM
var-GS19670-1100-36-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 (hom)
TH D154Einsufficiently evaluated noneunknown

(12 web hits)

TH V155Ainsufficiently evaluated not reviewedunknown

(15 web hits)

TH D181Einsufficiently evaluated noneunknown

(9 web hits)

TH V182Ainsufficiently evaluated not reviewedunknown

(6 web hits)

TH D185Einsufficiently evaluated noneunknown

(4 web hits)

TH V186Ainsufficiently evaluated not reviewedunknown

(6 web hits)

TH R233Hinsufficiently evaluated pathogenicunknown

(17 web hits)

TH L236Pinsufficiently evaluated pathogenicunknown

(28 web hits)

TH T276Pinsufficiently evaluated pathogenicunknown

(2 web hits)

TH T314Minsufficiently evaluated pathogenicunknown

(4 web hits)

TH R337Hinsufficiently evaluated pathogenicunknown

(59 web hits)

TH C359Finsufficiently evaluated pathogenicunknown

(14 web hits)

TH Q412Kinsufficiently evaluated pathogenicunknown

(4 web hits)

TH T494Minsufficiently evaluated pathogenicunknown

(7 web hits)

TH D498Ninsufficiently evaluated not reviewed, f=0.008unknown var-GS19704-1100-36-ASM
TH R508Cinsufficiently evaluated not reviewed, f=0.008unknown var-GS18505-1100-36-ASM
THADA E63Ginsufficiently evaluated not reviewed, f=0.008unknown var-GS19020-1100-36-ASM
var-GS19129-1100-36-ASM
THADA R117Cinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_F02 from PGP sample 40767107
THADA Q248Rinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_A04 from PGP sample 08188426
THADA T351Ainsufficiently evaluated not reviewed, f=0.012unknown var-GS19834-1100-36-ASM
var-GS19017-1100-36-ASM
THADA A406Tinsufficiently evaluated not reviewed, f=0.012unknown var-GS19834-1100-36-ASM
var-GS19017-1100-36-ASM
THADA E695Dinsufficiently evaluated not reviewed, f=0.011unknown var-GS19239-1100-36-ASM
var-GS19129-1100-36-ASM
var-GS19240-1100-36-ASM
THADA V699Iinsufficiently evaluated none, f=0.189unknown 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
hu3215A7 build 36 substitution variants
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM
CGI sample GS000005532
var-GS19703-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424
var-GS19704-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18555-1100-36-ASM (hom)
CGI sample GS00253-DNA_B01_200_37 (hom)
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS00253-DNA_F01_200_37
var-GS20502-1100-36-ASM (hom)
var-GS18526-1100-36-ASM
var-GS19670-1100-36-ASM
var-GS18508-1100-36-ASM
var-GS18940-1100-36-ASM (hom)
var-GS18956-1100-36-ASM
THADA L810Minsufficiently evaluated noneunknown
THADA T1187Ainsufficiently evaluated pharmacogenetic, f=0.156unknown

(188 web hits)

CGI sample GS00253-DNA_E01_200_37
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
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19649-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
var-GS19129-1100-36-ASM (hom)
var-GS19240-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS19670-1100-36-ASM
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01173-DNA_A07 from PGP sample 96240009
var-GS18508-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
THADA A1237Vinsufficiently evaluated not reviewed, f=0.004unknown var-GS19701-1100-36-ASM
THADA S1287Finsufficiently evaluated not reviewedunknown CGI sample GS000006909
THADA S1340Delinsufficiently evaluated not reviewed, f=0.008unknown var-GS12004-1100-36-ASM
THADA V1348Iinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_F02 from PGP sample 95788191
THADA R1353Sinsufficiently evaluated not reviewed, f=0.004unknown var-GS12004-1100-36-ASM
THADA T1385Sinsufficiently evaluated none, f=0.242unknown CGI sample GS00253-DNA_E01_200_37
var-GS19025-1100-36-ASM (hom)
CGI sample GS01669-DNA_F02 from PGP sample 40767107
hu34D5B9 exome (hom)
CGI sample GS01669-DNA_C05 from PGP sample 42408046 (hom)
var-GS19020-1100-36-ASM
var-GS18504-1100-36-ASM
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM
CGI sample GS000005532
hu232307 build 36 substitution variants (hom)
var-GS12004-1100-36-ASM
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
var-GS10851-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19649-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
var-GS18537-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS00253-DNA_D01_200_37
hu728FFF build 36 substitution variants
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 GS01175-DNA_B04 from PGP sample 88590671 (hom)
CGI sample GS01173-DNA_A07 from PGP sample 96240009
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
var-GS18508-1100-36-ASM
var-GS19026-1100-36-ASM
var-GS20509-1100-36-ASM
var-GS06985-1100-36-ASM
var-GS18517-1100-36-ASM
THADA L1443Finsufficiently evaluated not reviewed, f=0.005unknown CGI sample GS00253-DNA_G01_200_37
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01173-DNA_B07 from PGP sample 61499538
THADA T1539Sinsufficiently evaluated not reviewedunknown CGI sample GS00253-DNA_F01_200_37
THADA S1544Cinsufficiently evaluated not reviewed, f=0.000unknown var-GS18555-1100-36-ASM
THADA C1605Yinsufficiently evaluated none, f=0.108unknown

(2 web hits)

CGI sample GS00253-DNA_E01_200_37
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS07357-1100-36-ASM (hom)
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS19649-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_C01_200_37
var-GS19670-1100-36-ASM
var-GS06994-1100-36-ASM
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01173-DNA_A07 from PGP sample 96240009
var-GS19669-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
THADA C1668Rinsufficiently evaluated not reviewed, f=0.031unknown var-GS18504-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS18508-1100-36-ASM
THADA E1741Kinsufficiently evaluated not reviewed, f=0.003unknown var-GS18537-1100-36-ASM
THADA S1864Ninsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_A04 from PGP sample 08188426
THAP1 F81Linsufficiently evaluated pathogenicunknown

(1 web hit)

THAP1 K181Shiftinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_H05 from PGP sample 10971581
THAP11 Q132Delinsufficiently evaluated not reviewedunknown hu34D5B9 exome
THAP11 L157Vinsufficiently evaluated none, f=0.008unknown var-GS18555-1100-36-ASM
THAP2 C103Delinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS01669-DNA_B03 from PGP sample 14427241
THAP2 T170Minsufficiently evaluated not reviewed, f=0.028unknown var-GS21767-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19238-1100-36-ASM
THAP3 E160Ainsufficiently evaluated not reviewed, f=0.024unknown var-GS19020-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
THAP3 Q226Rinsufficiently evaluated not reviewedunknown
THAP3 Q227Rinsufficiently evaluated not reviewedunknown
THAP4 V81Sinsufficiently evaluated not reviewedunknown PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
THAP4 S121Ginsufficiently evaluated none, f=0.471unknown 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 GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01175-DNA_H01 from PGP sample 94797469 (hom)
hu34D5B9 exome
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
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM (hom)
var-GS18558-1100-36-ASM (hom)
var-GS19735-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
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
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241
var-GS19701-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)
var-GS19704-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37
var-GS19239-1100-36-ASM (hom)
var-GS19017-1100-36-ASM (hom)
var-GS18502-1100-36-ASM
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 (hom)
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
CGI sample GS00253-DNA_F01_200_37
var-GS20502-1100-36-ASM (hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
var-GS19129-1100-36-ASM (hom)
var-GS19240-1100-36-ASM (hom)
CGI sample GS00253-DNA_C01_200_37 (hom)
var-GS18526-1100-36-ASM
var-GS18947-1100-36-ASM (hom)
var-GS18505-1100-36-ASM (hom)
var-GS19238-1100-36-ASM
var-GS19670-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37 (hom)
var-GS06994-1100-36-ASM
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 GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01173-DNA_A07 from PGP sample 96240009 (hom)
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS18508-1100-36-ASM
var-GS19669-1100-36-ASM
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 (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
THAP4 S132Cinsufficiently evaluated not reviewed, f=0.002unknown var-GS19026-1100-36-ASM
THAP4 G209Dinsufficiently evaluated not reviewed, f=0.008unknown var-GS18501-1100-36-ASM
THAP5 E61Delinsufficiently evaluated not reviewed, f=0.008unknown var-GS19020-1100-36-ASM
THAP5 P109Sinsufficiently evaluated not reviewedunknown
THAP5 P151Sinsufficiently evaluated not reviewed, f=0.031unknown
THAP5 N258Kinsufficiently evaluated not reviewedunknown hu34D5B9 exome
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01173-DNA_A07 from PGP sample 96240009
THAP6 G51Sinsufficiently evaluated none, f=0.025unknown var-GS19025-1100-36-ASM
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS19239-1100-36-ASM
THAP7 E69Qinsufficiently evaluated not reviewed, f=0.003unknown var-GS20502-1100-36-ASM
THAP7 A115Pinsufficiently evaluated none, f=0.853unknown 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
CGI sample GS01175-DNA_G03 from PGP sample 92527586 (hom)
var-GS19025-1100-36-ASM (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) (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
var-GS18504-1100-36-ASM (hom)
var-GS18558-1100-36-ASM
var-GS19735-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
CGI sample GS000006909
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
CGI sample GS00253-DNA_G01_200_37
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
var-GS10851-1100-36-ASM
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
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 (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
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
var-GS18947-1100-36-ASM (hom)
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 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 (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
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
var-GS18517-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
THAP7 A115Sinsufficiently evaluated noneunknown

(1 web hit)

CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01175-DNA_H01 from PGP sample 94797469
CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS00253-DNA_G01_200_37
THAP8 V24Linsufficiently evaluated not reviewedunknown
THAP8 R70Hinsufficiently evaluated none, f=0.028unknown CGI sample GS00253-DNA_E01_200_37
CGI sample GS01175-DNA_G03 from PGP sample 92527586
var-GS18942-1100-36-ASM
CGI sample GS000006909
CGI sample GS01173-DNA_H06 from PGP sample 91708424
var-GS18555-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS01175-DNA_D05 from PGP sample 1205491
var-GS20502-1100-36-ASM
var-GS18947-1100-36-ASM
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
THAP8 S105Linsufficiently evaluated not reviewed, f=0.000unknown var-GS18947-1100-36-ASM
THAP8 K112Rinsufficiently evaluated none, f=0.024unknown CGI sample GS00253-DNA_E01_200_37
CGI sample GS01175-DNA_G03 from PGP sample 92527586
var-GS18942-1100-36-ASM
CGI sample GS000006909
CGI sample GS01173-DNA_H06 from PGP sample 91708424
var-GS18555-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS01175-DNA_D05 from PGP sample 1205491
var-GS20502-1100-36-ASM
var-GS18947-1100-36-ASM
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
THAP8 A154Vinsufficiently evaluated not reviewed, f=0.000unknown
THAP8 T156Iinsufficiently evaluated none, f=0.002unknown
THAP8 T156Ninsufficiently evaluated none, f=0.016unknown var-GS19129-1100-36-ASM
THAP8 P157Sinsufficiently evaluated none, f=0.075unknown CGI sample GS01669-DNA_F02 from PGP sample 40767107
var-GS19020-1100-36-ASM
var-GS19700-1100-36-ASM
var-GS07357-1100-36-ASM
CGI sample GS000005532
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS19648-1100-36-ASM
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01173-DNA_A07 from PGP sample 96240009
var-GS19669-1100-36-ASM
THAP8 R185Qinsufficiently evaluated none, f=0.270unknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01669-DNA_F02 from PGP sample 40767107
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS18942-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS19735-1100-36-ASM (hom)
CGI sample GS000006909
var-GS19703-1100-36-ASM
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 GS01175-DNA_A04 from PGP sample 13272228
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19017-1100-36-ASM (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261
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 GS01175-DNA_D05 from PGP sample 1205491
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034
var-GS19129-1100-36-ASM
CGI sample GS00253-DNA_D01_200_37
var-GS18526-1100-36-ASM (hom)
hu728FFF build 36 substitution variants (hom)
var-GS18505-1100-36-ASM
var-GS19670-1100-36-ASM
var-GS06994-1100-36-ASM
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-GS18508-1100-36-ASM (hom)
var-GS19669-1100-36-ASM
var-GS18940-1100-36-ASM
var-GS06985-1100-36-ASM
var-GS18956-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
THAP8 R189Winsufficiently evaluated none, f=0.267unknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01669-DNA_F02 from PGP sample 40767107
hu3215A7 build 36 substitution variants
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS18942-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS19735-1100-36-ASM (hom)
CGI sample GS000006909
var-GS19703-1100-36-ASM
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 GS01175-DNA_A04 from PGP sample 13272228
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19017-1100-36-ASM (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261
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 GS01175-DNA_D05 from PGP sample 1205491
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034
var-GS19129-1100-36-ASM
CGI sample GS00253-DNA_D01_200_37
var-GS18526-1100-36-ASM (hom)
hu728FFF build 36 substitution variants
var-GS18505-1100-36-ASM
var-GS19670-1100-36-ASM
var-GS06994-1100-36-ASM
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-GS18508-1100-36-ASM (hom)
var-GS19669-1100-36-ASM
var-GS18940-1100-36-ASM
var-GS06985-1100-36-ASM
var-GS18956-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
THAP8 T269Ainsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_D02 from PGP sample 27316983
THAP9 I134Tinsufficiently evaluated none, f=0.010unknown var-GS19129-1100-36-ASM (hom)
THAP9 R265Qinsufficiently evaluated not reviewed, f=0.000unknown var-GS07357-1100-36-ASM
THAP9 M284Iinsufficiently 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
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
hu232307 build 36 substitution variants (hom)
var-GS12004-1100-36-ASM (hom)
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom)
CGI sample GS00253-DNA_G01_200_37 (hom)
var-GS19701-1100-36-ASM (hom)
CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)
var-GS21767-1100-36-ASM (hom)
var-GS19704-1100-36-ASM (hom)
var-GS10851-1100-36-ASM (hom)
CGI sample GS00253-DNA_A01_200_37 (hom)
CGI sample GS01173-DNA_D06 from PGP sample 69488604 (hom)
var-GS19834-1100-36-ASM (hom)
var-GS19239-1100-36-ASM (hom)
var-GS19017-1100-36-ASM (hom)
var-GS18502-1100-36-ASM (hom)
var-GS19649-1100-36-ASM (hom)
var-GS18555-1100-36-ASM (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
var-GS19648-1100-36-ASM (hom)
var-GS18537-1100-36-ASM (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom)
CGI sample GS00253-DNA_B02_200_37 (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom)
CGI sample GS00253-DNA_B01_200_37 (hom)
CGI sample GS01173-DNA_F06 from PGP sample 64191565 (hom)
CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom)
CGI sample GS00253-DNA_F01_200_37 (hom)
var-GS20502-1100-36-ASM (hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
var-GS19129-1100-36-ASM (hom)
CGI sample GS00253-DNA_D01_200_37 (hom)
var-GS19240-1100-36-ASM
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
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)
THAP9 L299Finsufficiently evaluated none, f=0.418unknown 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
CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01175-DNA_H01 from PGP sample 94797469 (hom)
hu3215A7 build 36 substitution variants
var-GS18942-1100-36-ASM
CGI sample GS01669-DNA_C05 from PGP sample 42408046 (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)
CGI sample GS000005532
hu232307 build 36 substitution variants
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS00253-DNA_G01_200_37 (hom)
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS10851-1100-36-ASM
CGI sample GS01173-DNA_D06 from PGP sample 69488604 (hom)
var-GS19649-1100-36-ASM (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
var-GS19648-1100-36-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 (hom)
CGI sample GS00253-DNA_F01_200_37
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
var-GS19129-1100-36-ASM (hom)
CGI sample GS00253-DNA_D01_200_37
hu728FFF build 36 substitution variants (hom)
var-GS19670-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37 (hom)
var-GS06994-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01173-DNA_A07 from PGP sample 96240009 (hom)
var-GS19026-1100-36-ASM
var-GS18940-1100-36-ASM
var-GS06985-1100-36-ASM
var-GS18956-1100-36-ASM
var-GS18517-1100-36-ASM
THAP9 I663Vinsufficiently evaluated not reviewed, f=0.001unknown var-GS19704-1100-36-ASM
THAP9 N812Dinsufficiently evaluated none, f=0.978unknown 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
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
hu232307 build 36 substitution variants (hom)
var-GS12004-1100-36-ASM (hom)
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom)
CGI sample GS00253-DNA_G01_200_37 (hom)
var-GS19701-1100-36-ASM (hom)
CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)
var-GS21767-1100-36-ASM (hom)
var-GS19704-1100-36-ASM (hom)
var-GS10851-1100-36-ASM (hom)
CGI sample GS00253-DNA_A01_200_37 (hom)
CGI sample GS01173-DNA_D06 from PGP sample 69488604 (hom)
var-GS19834-1100-36-ASM (hom)
var-GS19239-1100-36-ASM (hom)
var-GS19017-1100-36-ASM (hom)
var-GS18502-1100-36-ASM (hom)
var-GS19649-1100-36-ASM (hom)
var-GS18555-1100-36-ASM (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
var-GS19648-1100-36-ASM (hom)
var-GS18537-1100-36-ASM (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom)
CGI sample GS00253-DNA_B02_200_37 (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom)
CGI sample GS00253-DNA_B01_200_37 (hom)
CGI sample GS01173-DNA_F06 from PGP sample 64191565 (hom)
CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom)
CGI sample GS00253-DNA_F01_200_37 (hom)
var-GS20502-1100-36-ASM (hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
var-GS19129-1100-36-ASM (hom)
CGI sample GS00253-DNA_D01_200_37 (hom)
var-GS19240-1100-36-ASM
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
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)
THAP9 V833Iinsufficiently evaluated none, f=0.017unknown hu3215A7 build 36 substitution variants
var-GS19240-1100-36-ASM
var-GS19238-1100-36-ASM
THBD A25Tinsufficiently evaluated pathogenicunknown

(4 web hits)

THBD A43Tpathogenic, f=0.004dominant

Reported to cause familial hemolytic-uremic syndrome in a dominant manner, a potentially lethal illness in children. If true, penetrance is not 100%, but some family history of the illness might be expected.

(6 web hits)

hu34D5B9 exome (hom)
var-GS07357-1100-36-ASM
THBD D53Ginsufficiently evaluated pathogenicunknown

(6 web hits)

THBD P217Sinsufficiently evaluated not reviewed, f=0.008unknown var-GS18558-1100-36-ASM
THBD D468Yinsufficiently evaluated pathogenicunknown
THBD A473Vuncertain benign, f=0.140unknown

While other variants in THBD are associated with atypical hemolytic-uremic syndrome, this variant is not very rare and appears to most likely be benign. Delvaeye et al. note that the frequency of this variant is not significantly different between affected subjects and unaffected ones, and PolyPhen-2 predicts that it is benign as well.

(4 web hits)

CGI sample GS00253-DNA_E01_200_37
CGI sample GS01175-DNA_G03 from PGP sample 92527586
hu34D5B9 exome
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS18942-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909
var-GS07357-1100-36-ASM (hom)
hu232307 build 36 substitution variants
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS10851-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18555-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01173-DNA_A07 from PGP sample 96240009
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS19669-1100-36-ASM (hom)
var-GS18940-1100-36-ASM
THBD P495Spathogenic, f=0.001dominant

Reported to cause familial hemolytic-uremic syndrome in a dominant manner, a potentially lethal illness in children. If true, penetrance is not 100%, but some family history of the illness might be expected.

(7 web hits)

THBD P501Linsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_B07 from PGP sample 61499538
THBD G502Rinsufficiently evaluated none, f=0.007unknown var-GS18517-1100-36-ASM
THBD T506Sinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_B03 from PGP sample 14427241
THBS1 S24Ainsufficiently evaluated none, f=0.035unknown var-GS19701-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS18502-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034
var-GS19129-1100-36-ASM
var-GS19238-1100-36-ASM
THBS1 A39Tinsufficiently evaluated not reviewed, f=0.008unknown var-GS07357-1100-36-ASM
THBS1 A84Tinsufficiently evaluated not reviewed, f=0.002unknown var-GS18508-1100-36-ASM
THBS1 V119Minsufficiently evaluated not reviewed, f=0.008unknown var-GS21767-1100-36-ASM
THBS1 A195Tinsufficiently evaluated not reviewed, f=0.000unknown CGI sample GS00253-DNA_H01_200_37
THBS1 T523Ainsufficiently evaluated none, f=0.230unknown CGI sample GS00253-DNA_E01_200_37 (hom)
var-GS19025-1100-36-ASM (hom)
hu3215A7 build 36 substitution variants (hom)
var-GS18942-1100-36-ASM (hom)
var-GS19020-1100-36-ASM (hom)
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM
CGI sample GS000005532
hu232307 build 36 substitution variants (hom)
var-GS12004-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS19239-1100-36-ASM (hom)
var-GS18502-1100-36-ASM
var-GS18555-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
var-GS20502-1100-36-ASM
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
var-GS18947-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
CGI sample GS01173-DNA_B02 from PGP sample 94378523
var-GS19026-1100-36-ASM (hom)
var-GS20509-1100-36-ASM
var-GS18940-1100-36-ASM
THBS1 N700Sinsufficiently evaluated none, f=0.085unknown CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM
var-GS19703-1100-36-ASM
var-GS12004-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228
CGI sample GS01669-DNA_B05 from PGP sample 86486261
var-GS19648-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS00253-DNA_C01_200_37
CGI sample GS00253-DNA_A02_200_37
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
THBS1 L912Shiftinsufficiently evaluated not reviewed, f=0.016unknown var-GS19834-1100-36-ASM
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS00253-DNA_H01_200_37
THBS2 T25Minsufficiently evaluated not reviewed, f=0.003unknown var-GS19017-1100-36-ASM
THBS2 N118Kinsufficiently evaluated not reviewedunknown

(1 web hit)

THBS2 A121Tinsufficiently evaluated not reviewed, f=0.011unknown var-GS19704-1100-36-ASM
THBS2 I130Tinsufficiently evaluated none, f=0.001unknown var-GS18517-1100-36-ASM
THBS2 T133Sinsufficiently evaluated not reviewed, f=0.026unknown

(3 web hits)

var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS18502-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
THBS2 N235Sinsufficiently evaluated not reviewedunknown
THBS2 L375Finsufficiently evaluated none, f=0.027unknown

(3 web hits)

var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS19017-1100-36-ASM
THBS2 G830Sinsufficiently evaluated not reviewed, f=0.000unknown CGI sample GS00253-DNA_F01_200_37
THBS2 N1069Sinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_H06 from PGP sample 91708424
THBS2 V1133Linsufficiently evaluated not reviewedunknown
THBS2 I1172Vinsufficiently evaluated not reviewed, f=0.000unknown
THBS3 R102Qinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_A04 from PGP sample 13272228
THBS3 G131Cinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_H01 from PGP sample 94797469
THBS3 S279Ginsufficiently evaluated none, f=0.155unknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
var-GS19025-1100-36-ASM (hom)
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS19020-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS07357-1100-36-ASM
CGI sample GS000005532
var-GS19703-1100-36-ASM
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS21767-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19649-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS00253-DNA_D01_200_37
var-GS19240-1100-36-ASM
var-GS18505-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
CGI sample GS00253-DNA_H01_200_37
var-GS19669-1100-36-ASM
var-GS19026-1100-36-ASM
var-GS18517-1100-36-ASM
THBS3 G311Sinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_D03 from PGP sample 27486199
THBS3 H477Yinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_B05 from PGP sample 86486261
THBS3 D697Einsufficiently evaluated not reviewedunknown
THBS3 D710Ninsufficiently evaluated noneunknown
THBS4 L47Pinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_B07 from PGP sample 61499538
THBS4 A387Pinsufficiently evaluated none, f=0.179unknown CGI sample GS00253-DNA_E01_200_37
var-GS19025-1100-36-ASM
hu3215A7 build 36 substitution variants
var-GS18942-1100-36-ASM
CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM
CGI sample GS000005532 (hom)
var-GS12004-1100-36-ASM
CGI sample GS01669-DNA_B03 from PGP sample 14427241
var-GS10851-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37
var-GS19239-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_F01_200_37
var-GS19240-1100-36-ASM
CGI sample GS00253-DNA_C01_200_37
hu728FFF build 36 substitution variants
var-GS18947-1100-36-ASM
var-GS06994-1100-36-ASM
CGI sample GS01175-DNA_F02 from PGP sample 95788191
var-GS18508-1100-36-ASM
var-GS20509-1100-36-ASM
var-GS18940-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
THBS4 A420Vinsufficiently evaluated not reviewed, f=0.011unknown CGI sample GS01175-DNA_H01 from PGP sample 94797469
var-GS19648-1100-36-ASM (hom)
THBS4 R562Sinsufficiently evaluated not reviewed, f=0.000unknown var-GS19025-1100-36-ASM
THBS4 D568Ninsufficiently evaluated none, f=0.008unknown var-GS18956-1100-36-ASM
THBS4 V646Iinsufficiently evaluated not reviewed, f=0.020unknown var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS19238-1100-36-ASM
THBS4 V646Linsufficiently evaluated not reviewedunknown

(2 web hits)

THBS4 V737Iinsufficiently evaluated not reviewed, f=0.005unknown var-GS19735-1100-36-ASM
THBS4 Q954Hinsufficiently evaluated not reviewed, f=0.001unknown CGI sample GS000005532
THEG S39Ninsufficiently evaluated not reviewed, f=0.006unknown
THEG W168Xinsufficiently evaluated none, f=0.039unknown var-GS19020-1100-36-ASM
var-GS19240-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS18508-1100-36-ASM
THEG R178Iinsufficiently evaluated noneunknown hu728FFF build 36 substitution variants
THEG R193Cinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01173-DNA_B02 from PGP sample 94378523
THEG R202Iinsufficiently evaluated none, f=0.041unknown PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS18942-1100-36-ASM
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS18558-1100-36-ASM
var-GS12004-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
var-GS18555-1100-36-ASM (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_B01_200_37
var-GS18526-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS18947-1100-36-ASM
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS18940-1100-36-ASM
var-GS18956-1100-36-ASM
THEG H273Yinsufficiently evaluated noneunknown
THEG H297Yinsufficiently evaluated none, f=0.051unknown var-GS19020-1100-36-ASM
var-GS18501-1100-36-ASM
CGI sample GS00253-DNA_G01_200_37
var-GS19701-1100-36-ASM
var-GS10851-1100-36-ASM
var-GS19648-1100-36-ASM
CGI sample GS00253-DNA_B01_200_37
var-GS20502-1100-36-ASM
CGI sample GS00253-DNA_D01_200_37
var-GS19240-1100-36-ASM
var-GS19238-1100-36-ASM (hom)
var-GS19669-1100-36-ASM
var-GS18940-1100-36-ASM
var-GS18956-1100-36-ASM
THEG K312Qinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_C05 from PGP sample 42408046
THEG D329Ninsufficiently evaluated noneunknown
THEG A334Tinsufficiently evaluated not reviewedunknown

(4 web hits)

THEG D353Ninsufficiently evaluated none, f=0.026unknown CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS19648-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01175-DNA_B01 from PGP sample 86206034
var-GS18526-1100-36-ASM
var-GS19238-1100-36-ASM
CGI sample GS01669-DNA_A04 from PGP sample 08188426
THEG A358Tinsufficiently evaluated not reviewed, f=0.000unknown
THEM4 L2Vinsufficiently evaluated not reviewedunknown
THEM4 L17Rinsufficiently evaluated none, f=0.923unknown CGI sample GS00253-DNA_E01_200_37
CGI sample GS01669-DNA_C07 from PGP sample 74521372 (hom)
CGI sample GS01173-DNA_C02 from PGP sample 10366372 (hom)
CGI sample GS01175-DNA_G03 from PGP sample 92527586 (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
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
var-GS19700-1100-36-ASM (hom)
var-GS18501-1100-36-ASM (hom)
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 (hom)
var-GS07357-1100-36-ASM
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 GS01175-DNA_A04 from PGP sample 13272228 (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 (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
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)
var-GS20502-1100-36-ASM (hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
var-GS19129-1100-36-ASM (hom)
CGI sample GS00253-DNA_D01_200_37
var-GS19240-1100-36-ASM (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-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_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-GS19026-1100-36-ASM (hom)
var-GS20509-1100-36-ASM (hom)
var-GS18940-1100-36-ASM (hom)
var-GS06985-1100-36-ASM (hom)
var-GS18517-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199
THEM4 S38Cinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_A04 from PGP sample 13272228
CGI sample GS01175-DNA_D03 from PGP sample 27486199
THEM4 R81Hinsufficiently evaluated not reviewed, f=0.008unknown var-GS12004-1100-36-ASM
THEM4 K98Ninsufficiently evaluated none, f=0.010unknown var-GS19020-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19240-1100-36-ASM
var-GS19026-1100-36-ASM
THEM5 M41Tinsufficiently evaluated not reviewed, f=0.017unknown var-GS19700-1100-36-ASM
THEM5 S68Ninsufficiently evaluated noneunknown
THEM5 D197Ginsufficiently evaluated none, f=0.823unknown 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 GS01175-DNA_G03 from PGP sample 92527586 (hom)
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) (hom)
var-GS18942-1100-36-ASM
CGI sample GS01669-DNA_C05 from PGP sample 42408046 (hom)
var-GS19020-1100-36-ASM (hom)
CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom)
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-ASM (hom)
var-GS18558-1100-36-ASM
var-GS19735-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909 (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom)
var-GS07357-1100-36-ASM (hom)
CGI sample GS000005532
var-GS19703-1100-36-ASM
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM (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
var-GS19701-1100-36-ASM (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 (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
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
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
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
CGI sample GS00253-DNA_D01_200_37
var-GS19240-1100-36-ASM (hom)
CGI sample GS00253-DNA_C01_200_37 (hom)
var-GS18526-1100-36-ASM
hu728FFF build 36 substitution variants (hom)
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)
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 (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-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)
CGI sample GS01175-DNA_D03 from PGP sample 27486199
THEM5 L206Vinsufficiently evaluated none, f=0.995unknown CGI sample GS00253-DNA_E01_200_37 (hom)
CGI sample GS01669-DNA_C07 from PGP sample 74521372 (hom)
CGI sample GS01173-DNA_C02 from PGP sample 10366372 (hom)
CGI sample GS01175-DNA_G03 from PGP sample 92527586 (hom)
var-GS19025-1100-36-ASM (hom)
CGI sample GS01669-DNA_F02 from PGP sample 40767107 (hom)
CGI sample GS01175-DNA_H01 from PGP sample 94797469 (hom)
hu34D5B9 exome (hom)
hu3215A7 build 36 substitution variants (hom)
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) (hom)
var-GS18942-1100-36-ASM (hom)
CGI sample GS01669-DNA_C05 from PGP sample 42408046 (hom)
var-GS19020-1100-36-ASM (hom)
CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom)
var-GS19700-1100-36-ASM (hom)
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-ASM (hom)
var-GS18558-1100-36-ASM (hom)
var-GS19735-1100-36-ASM (hom)
CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
CGI sample GS000006909 (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom)
var-GS07357-1100-36-ASM (hom)
CGI sample GS000005532 (hom)
var-GS19703-1100-36-ASM (hom)
hu232307 build 36 substitution variants (hom)
var-GS12004-1100-36-ASM (hom)
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom)
CGI sample GS00253-DNA_G01_200_37 (hom)
var-GS19701-1100-36-ASM (hom)
CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)
var-GS21767-1100-36-ASM (hom)
var-GS19704-1100-36-ASM (hom)
var-GS10851-1100-36-ASM (hom)
CGI sample GS00253-DNA_A01_200_37 (hom)
CGI sample GS01173-DNA_D06 from PGP sample 69488604 (hom)
var-GS19834-1100-36-ASM (hom)
var-GS19239-1100-36-ASM (hom)
var-GS19017-1100-36-ASM (hom)
var-GS18502-1100-36-ASM (hom)
var-GS19649-1100-36-ASM (hom)
var-GS18555-1100-36-ASM (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
var-GS19648-1100-36-ASM (hom)
var-GS18537-1100-36-ASM (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom)
CGI sample GS00253-DNA_B02_200_37 (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom)
CGI sample GS00253-DNA_B01_200_37 (hom)
CGI sample GS01173-DNA_F06 from PGP sample 64191565 (hom)
CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom)
CGI sample GS00253-DNA_F01_200_37 (hom)
var-GS20502-1100-36-ASM (hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
var-GS19129-1100-36-ASM (hom)
CGI sample GS00253-DNA_D01_200_37 (hom)
var-GS19240-1100-36-ASM (hom)
CGI sample GS00253-DNA_C01_200_37 (hom)
var-GS18526-1100-36-ASM (hom)
hu728FFF build 36 substitution variants (hom)
var-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-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)
THEMIS I157Vinsufficiently evaluated not reviewedunknown
THEMIS E170Ginsufficiently evaluated not reviewed, f=0.004unknown var-GS18504-1100-36-ASM
THEMIS I192Vinsufficiently evaluated not reviewed, f=0.008unknown CGI sample GS00253-DNA_C01_200_37
THEMIS V252Iinsufficiently evaluated not reviewed, f=0.000unknown var-GS19020-1100-36-ASM
THEMIS A389Tinsufficiently evaluated not reviewedunknown
THEMIS A424Tinsufficiently evaluated not reviewed, f=0.009unknown CGI sample GS00253-DNA_E01_200_37
CGI sample GS01175-DNA_A04 from PGP sample 13272228
CGI sample GS01173-DNA_D06 from PGP sample 69488604
THEMIS V459Minsufficiently evaluated not reviewed, f=0.000unknown var-GS19240-1100-36-ASM
THEMIS G472Dinsufficiently evaluated not reviewedunknown
THEMIS G507Dinsufficiently evaluated not reviewed, f=0.008unknown CGI sample GS00253-DNA_D01_200_37
THEMIS I595Vinsufficiently evaluated not reviewedunknown hu728FFF build 36 substitution variants
THEMIS A601Vinsufficiently evaluated not reviewed, f=0.001unknown var-GS19700-1100-36-ASM
THEMIS P621Rinsufficiently evaluated not reviewedunknown
THEMIS I630Vinsufficiently evaluated not reviewed, f=0.685unknown 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
var-GS19025-1100-36-ASM
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) (hom)
var-GS19020-1100-36-ASM
CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom)
var-GS19700-1100-36-ASM
var-GS18504-1100-36-ASM (hom)
var-GS18558-1100-36-ASM
var-GS19735-1100-36-ASM
CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom)
var-GS07357-1100-36-ASM
CGI sample GS000005532
var-GS19703-1100-36-ASM (hom)
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_G01_200_37 (hom)
var-GS19701-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)
var-GS21767-1100-36-ASM (hom)
var-GS19704-1100-36-ASM
var-GS10851-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604 (hom)
var-GS19834-1100-36-ASM (hom)
var-GS19017-1100-36-ASM (hom)
var-GS18502-1100-36-ASM (hom)
var-GS19649-1100-36-ASM
var-GS18555-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
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
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
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
var-GS19129-1100-36-ASM (hom)
CGI sample GS00253-DNA_D01_200_37 (hom)
hu728FFF build 36 substitution variants
var-GS18505-1100-36-ASM (hom)
var-GS19670-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37 (hom)
var-GS06994-1100-36-ASM (hom)
CGI sample GS00253-DNA_H01_200_37
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_B07 from PGP sample 61499538
var-GS19669-1100-36-ASM
var-GS19026-1100-36-ASM
var-GS20509-1100-36-ASM
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)
THEMIS I669Vinsufficiently evaluated not reviewedunknown hu728FFF build 36 substitution variants
THG1L L232Pinsufficiently evaluated none, f=0.684unknown 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
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-GS19020-1100-36-ASM
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS19700-1100-36-ASM (hom)
var-GS18504-1100-36-ASM (hom)
var-GS18558-1100-36-ASM (hom)
var-GS19735-1100-36-ASM
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM (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 (hom)
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 (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 (hom)
var-GS19834-1100-36-ASM (hom)
var-GS19239-1100-36-ASM (hom)
var-GS19017-1100-36-ASM (hom)
var-GS18502-1100-36-ASM (hom)
var-GS18555-1100-36-ASM (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261
var-GS19648-1100-36-ASM
var-GS18537-1100-36-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
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01173-DNA_F06 from PGP sample 64191565
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 (hom)
CGI sample GS00253-DNA_D01_200_37
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
var-GS18505-1100-36-ASM (hom)
var-GS19238-1100-36-ASM
var-GS19670-1100-36-ASM
var-GS06994-1100-36-ASM (hom)
CGI sample GS00253-DNA_H01_200_37
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_B07 from PGP sample 61499538 (hom)
var-GS19669-1100-36-ASM
var-GS19026-1100-36-ASM (hom)
var-GS20509-1100-36-ASM
var-GS18940-1100-36-ASM (hom)
var-GS06985-1100-36-ASM
var-GS18956-1100-36-ASM (hom)
var-GS18517-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199
THNSL1 L52Iinsufficiently evaluated none, f=0.017unknown var-GS19020-1100-36-ASM
var-GS19240-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS18517-1100-36-ASM
THNSL1 A140Vinsufficiently evaluated none, f=0.008unknown var-GS18956-1100-36-ASM
THNSL1 P239Rinsufficiently evaluated none, f=0.035unknown var-GS19025-1100-36-ASM (hom)
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS19649-1100-36-ASM
var-GS19240-1100-36-ASM
THNSL1 A248Einsufficiently evaluated not reviewed, f=0.031unknown var-GS10851-1100-36-ASM
CGI sample GS01175-DNA_D01 from PGP sample 31286272
THNSL1 A303Sinsufficiently evaluated not reviewed, f=0.005unknown var-GS21767-1100-36-ASM
THNSL1 P368Tinsufficiently evaluated not reviewed, f=0.016unknown var-GS19735-1100-36-ASM
CGI sample GS01173-DNA_F06 from PGP sample 64191565
THNSL1 Q399Rinsufficiently evaluated none, f=0.035unknown var-GS19025-1100-36-ASM (hom)
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS19649-1100-36-ASM
var-GS19240-1100-36-ASM
THNSL1 P408Shiftinsufficiently evaluated not reviewed, f=0.008unknown var-GS07357-1100-36-ASM
THNSL1 P659Linsufficiently evaluated none, f=0.000unknown
THNSL2 S5Ginsufficiently evaluated not reviewed, f=0.008unknown var-GS19026-1100-36-ASM
THNSL2 G41Einsufficiently evaluated none, f=0.874unknown 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
CGI sample GS01175-DNA_G03 from PGP sample 92527586 (hom)
var-GS19025-1100-36-ASM
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
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
var-GS19020-1100-36-ASM (hom)
var-GS19700-1100-36-ASM (hom)
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-ASM
var-GS18558-1100-36-ASM (hom)
var-GS19735-1100-36-ASM
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
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
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
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS00253-DNA_F01_200_37
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)
CGI sample GS00253-DNA_D01_200_37 (hom)
var-GS19240-1100-36-ASM (hom)
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
CGI sample GS00253-DNA_A02_200_37
var-GS06994-1100-36-ASM (hom)
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
CGI sample GS01175-DNA_F02 from PGP sample 95788191 (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-GS18517-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
THNSL2 D78Ninsufficiently evaluated not reviewed, f=0.009unknown var-GS10851-1100-36-ASM
CGI sample GS01173-DNA_D06 from PGP sample 69488604
THNSL2 R94Ginsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_C05 from PGP sample 42408046
THNSL2 V108Iinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01173-DNA_B07 from PGP sample 61499538
THNSL2 K130Rinsufficiently evaluated not reviewedunknown
THNSL2 V163Iinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B01 from PGP sample 86206034
THNSL2 T204Ninsufficiently evaluated not reviewed, f=0.030unknown

(1 web hit)

CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome
var-GS18501-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS18505-1100-36-ASM
THNSL2 V283Minsufficiently evaluated not reviewed, f=0.000unknown var-GS18940-1100-36-ASM
THNSL2 Q297Kinsufficiently evaluated not reviewed, f=0.008unknown
THNSL2 R324Minsufficiently evaluated not reviewed, f=0.008unknown var-GS18558-1100-36-ASM
THNSL2 P418Sinsufficiently evaluated none, f=0.002unknown var-GS18517-1100-36-ASM
THOC1 N190Sinsufficiently evaluated not reviewed, f=0.008unknown var-GS21767-1100-36-ASM
THOC2 N1531Shiftinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_F06 from PGP sample 64191565
THOC3 G340Xinsufficiently evaluated noneunknown
THOC4 M200Tinsufficiently evaluated not reviewed, f=0.008unknown
THOC4 M207Tinsufficiently evaluated noneunknown CGI sample GS00253-DNA_A01_200_37
THOC5 T30Iinsufficiently evaluated not reviewedunknown
THOC5 L45Vinsufficiently evaluated none, f=0.003unknown CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS18555-1100-36-ASM
var-GS20509-1100-36-ASM
THOC5 L72Qinsufficiently evaluated not reviewedunknown
THOC5 M180Vinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_H06 from PGP sample 91708424
THOC5 V525Iinsufficiently evaluated none, f=0.450unknown CGI sample GS00253-DNA_E01_200_37 (hom)
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 GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01175-DNA_H01 from PGP sample 94797469
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
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM (hom)
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)
var-GS07357-1100-36-ASM
CGI sample GS000005532 (hom)
var-GS12004-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424
var-GS19701-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS21767-1100-36-ASM
var-GS19704-1100-36-ASM
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19649-1100-36-ASM
var-GS18555-1100-36-ASM
var-GS19648-1100-36-ASM
var-GS18537-1100-36-ASM (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS00253-DNA_F01_200_37
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
var-GS19129-1100-36-ASM
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)
CGI sample GS00253-DNA_A02_200_37
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_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-GS19026-1100-36-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
THOC5 I556Vinsufficiently evaluated not reviewed, f=0.011unknown CGI sample GS01669-DNA_F02 from PGP sample 40767107
var-GS19649-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS01175-DNA_F02 from PGP sample 95788191
THOC5 V579Iinsufficiently evaluated none, f=0.191unknown 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)
CGI sample GS01175-DNA_H01 from PGP sample 94797469
var-GS18942-1100-36-ASM (hom)
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS18558-1100-36-ASM
var-GS19735-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909
CGI sample GS000005532
CGI sample GS01173-DNA_H06 from PGP sample 91708424
var-GS21767-1100-36-ASM
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS18555-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_D05 from PGP sample 1205491
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034
var-GS18526-1100-36-ASM
var-GS18947-1100-36-ASM
var-GS06994-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01173-DNA_A07 from PGP sample 96240009
var-GS18940-1100-36-ASM
var-GS06985-1100-36-ASM
var-GS18956-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199
THOC6 M82Vinsufficiently evaluated none, f=0.008unknown var-GS19239-1100-36-ASM
var-GS19240-1100-36-ASM
THOC7 R113Xinsufficiently evaluated not reviewed, f=0.008unknown CGI sample GS00253-DNA_B02_200_37
THOP1 R36Cinsufficiently evaluated none, f=0.002unknown var-GS18517-1100-36-ASM
THOP1 A399Vinsufficiently evaluated not reviewed, f=0.008unknown var-GS18940-1100-36-ASM
THPO T344Ainsufficiently evaluated not reviewed, f=0.007unknown

(1 web hit)

THRA S45Iinsufficiently evaluated pathogenicunknown
THRA K370Ninsufficiently evaluated pathogenicunknown
THRA S377Linsufficiently evaluated pathogenicunknown
THRA D462Ginsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_B05 from PGP sample 86486261
THRA S464Shiftinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_B05 from PGP sample 86486261
THRAP2 E251Ginsufficiently evaluated pathogenicunknown
THRAP2 R1872Hinsufficiently evaluated pathogenicunknown
THRAP2 D2023Ginsufficiently evaluated pathogenicunknown
THRAP3 A201Vinsufficiently evaluated none, f=0.778unknown 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
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
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 (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
var-GS19701-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228 (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 (hom)
var-GS19834-1100-36-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 (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
CGI sample GS01173-DNA_F06 from PGP sample 64191565 (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
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)
hu728FFF build 36 substitution variants (hom)
var-GS18947-1100-36-ASM (hom)
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS19670-1100-36-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 (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 (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)
THRAP3 K202Rinsufficiently evaluated not reviewed, f=0.006unknown var-GS18504-1100-36-ASM
THRAP3 R245Winsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_D06 from PGP sample 69488604
THRAP3 T286Ainsufficiently evaluated none, f=0.062unknown var-GS18504-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19129-1100-36-ASM
var-GS19238-1100-36-ASM
THRB A234Tinsufficiently evaluated pathogenicunknown

(27 web hits)

THRB R243Qinsufficiently evaluated pathogenicunknown

(38 web hits)

THRB R243Winsufficiently evaluated pathogenicunknown

(45 web hits)

THRB M310Tinsufficiently evaluated pathogenicunknown

(4 web hits)

THRB R316Hinsufficiently evaluated pathogenicunknown

(54 web hits)

THRB A317Tinsufficiently evaluated pathogenicunknown

(12 web hits)

THRB R320Cinsufficiently evaluated pathogenicunknown
THRB R320Hinsufficiently evaluated pathogenicunknown

(4 web hits)

THRB R320Linsufficiently evaluated pathogenicunknown

(15 web hits)

THRB D322Hinsufficiently evaluated pathogenicunknown

(4 web hits)

THRB L325Finsufficiently evaluated pathogenicunknown
THRB G332Rinsufficiently evaluated pathogenicunknown

(4 web hits)

THRB T337Ainsufficiently evaluated pathogenicunknown

(2 web hits)

THRB R338Winsufficiently evaluated pathogenicunknown

(68 web hits)

THRB Q340Hinsufficiently evaluated pathogenicunknown

(4 web hits)

THRB G345Dinsufficiently evaluated pathogenicunknown

(29 web hits)

THRB G345Rinsufficiently evaluated pathogenicunknown

(20 web hits)

THRB G345Sinsufficiently evaluated pathogenicunknown

(19 web hits)

THRB G345Vinsufficiently evaluated pathogenicunknown

(4 web hits)

THRB G347Einsufficiently evaluated pathogenicunknown

(7 web hits)

THRB R383Hinsufficiently evaluated pathogenicunknown

(19 web hits)

THRB C434Xinsufficiently evaluated pathogenicunknown
THRB R438Hinsufficiently evaluated pathogenicunknown

(19 web hits)

THRB M442Vinsufficiently evaluated pathogenicunknown

(4 web hits)

THRB K443Einsufficiently evaluated pathogenicunknown

(4 web hits)

THRB C446Rinsufficiently evaluated pathogenicunknown

(15 web hits)

THRB L450Hinsufficiently evaluated pathogenicunknown

(4 web hits)

THRB P453Hinsufficiently evaluated pathogenicunknown

(21 web hits)

THRB P453Tinsufficiently evaluated pathogenicunknown

(13 web hits)

THRB V458Ainsufficiently evaluated pathogenicunknown

(30 web hits)

THRB F459Cinsufficiently evaluated pathogenicunknown

(6 web hits)

THRSP R7Hinsufficiently evaluated not reviewed, f=0.003unknown var-GS19735-1100-36-ASM
var-GS19669-1100-36-ASM
THRSP H72Ninsufficiently evaluated noneunknown
THSD1 N67Sinsufficiently evaluated not reviewedunknown
THSD1 R224Ginsufficiently evaluated none, f=0.061unknown hu3215A7 build 36 substitution variants
CGI sample GS01173-DNA_G02 from PGP sample 67180598
var-GS19704-1100-36-ASM
CGI sample GS00253-DNA_F01_200_37
var-GS19129-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS18505-1100-36-ASM
var-GS19026-1100-36-ASM
THSD1 E291Kinsufficiently evaluated not reviewedunknown hu34D5B9 exome
THSD1 D438Hinsufficiently evaluated noneunknown
THSD1 D491Hinsufficiently evaluated none, f=0.025unknown var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS19701-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19240-1100-36-ASM
THSD1 R641Iinsufficiently evaluated noneunknown
THSD1 R694Iinsufficiently evaluated none, f=0.017unknown var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS19701-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19240-1100-36-ASM
THSD1 G697Ainsufficiently evaluated noneunknown
THSD1 K715Rinsufficiently evaluated noneunknown hu728FFF build 36 substitution variants
THSD1 G750Ainsufficiently evaluated noneunknown
THSD1 K768Rinsufficiently evaluated none, f=0.042unknown hu3215A7 build 36 substitution variants
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS00253-DNA_F01_200_37
hu728FFF build 36 substitution variants
THSD4 A319Vinsufficiently evaluated none, f=0.008unknown
THSD4 D395Ninsufficiently evaluated none, f=0.006unknown CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01669-DNA_B05 from PGP sample 86486261
THSD4 W467Xinsufficiently evaluated noneunknown
THSD4 N567Kinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_F02 from PGP sample 70008981
THSD4 S585Linsufficiently evaluated none, f=0.001unknown var-GS19670-1100-36-ASM
var-GS18956-1100-36-ASM
THSD4 A653Sinsufficiently evaluated none, f=0.036unknown var-GS19020-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS19704-1100-36-ASM (hom)
var-GS19129-1100-36-ASM
var-GS18517-1100-36-ASM
THSD4 MT944Delinsufficiently evaluated not reviewed, f=0.008unknown var-GS20509-1100-36-ASM
THSD7A PR18RCinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_D01 from PGP sample 31286272
THSD7A P56Rinsufficiently evaluated not reviewed, f=0.026unknown hu232307 build 36 substitution variants
CGI sample GS01175-DNA_A04 from PGP sample 13272228
THSD7A F238Linsufficiently evaluated none, f=0.004unknown

(3 web hits)

var-GS18555-1100-36-ASM
var-GS18947-1100-36-ASM
var-GS18956-1100-36-ASM
THSD7A K292Rinsufficiently evaluated not reviewed, f=0.005unknown var-GS18501-1100-36-ASM
var-GS19017-1100-36-ASM
THSD7A E346Kinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_G02 from PGP sample 67180598
THSD7A I397Tinsufficiently evaluated not reviewed, f=0.002unknown var-GS19129-1100-36-ASM
THSD7A M489Vinsufficiently evaluated none, f=0.001unknown
THSD7A H506Rinsufficiently evaluated not reviewed, f=0.008unknown var-GS18558-1100-36-ASM
THSD7A N583Dinsufficiently evaluated none, f=0.823unknown 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) (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)
hu232307 build 36 substitution variants (hom)
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)
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
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
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
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)
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 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
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
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
THSD7A T642Minsufficiently evaluated not reviewed, f=0.000unknown var-GS19735-1100-36-ASM
THSD7A D771Einsufficiently evaluated none, f=0.345unknown 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
CGI sample GS01669-DNA_F02 from PGP sample 40767107 (hom)
hu34D5B9 exome
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
CGI sample GS01669-DNA_C05 from PGP sample 42408046 (hom)
var-GS18504-1100-36-ASM
CGI sample GS000006909 (hom)
var-GS07357-1100-36-ASM (hom)
var-GS19703-1100-36-ASM
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM (hom)
CGI sample GS00253-DNA_G01_200_37
var-GS10851-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604 (hom)
var-GS19239-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
var-GS19648-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS01669-DNA_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
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS00253-DNA_D01_200_37
var-GS19240-1100-36-ASM
CGI sample GS00253-DNA_C01_200_37 (hom)
var-GS18947-1100-36-ASM
var-GS19670-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
var-GS06994-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37 (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
var-GS19669-1100-36-ASM
var-GS20509-1100-36-ASM
var-GS18940-1100-36-ASM
var-GS06985-1100-36-ASM (hom)
THSD7A R841Hinsufficiently evaluated not reviewed, f=0.043unknown CGI sample GS00253-DNA_E01_200_37
hu34D5B9 exome
CGI sample GS01669-DNA_B03 from PGP sample 14427241
var-GS19649-1100-36-ASM
THSD7A R873Hinsufficiently evaluated not reviewed, f=0.000unknown var-GS18555-1100-36-ASM
THSD7A P1163Tinsufficiently evaluated not reviewed, f=0.008unknown var-GS18956-1100-36-ASM
THSD7B T209Iinsufficiently evaluated not reviewed, f=0.000unknown var-GS18504-1100-36-ASM
THSD7B M284Iinsufficiently evaluated not reviewed, f=0.000unknown var-GS19834-1100-36-ASM
THSD7B R322Hinsufficiently evaluated none, f=0.041unknown CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS00253-DNA_A02_200_37
var-GS06994-1100-36-ASM
THSD7B A356Dinsufficiently evaluated not reviewed, f=0.000unknown var-GS20509-1100-36-ASM
THSD7B E387Kinsufficiently evaluated not reviewed, f=0.020unknown var-GS19025-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS18508-1100-36-ASM
THSD7B D472Einsufficiently evaluated none, f=0.386unknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
CGI sample GS01669-DNA_C05 from PGP sample 42408046 (hom)
var-GS18504-1100-36-ASM
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
hu232307 build 36 substitution variants
CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom)
CGI sample GS00253-DNA_G01_200_37
CGI sample GS01175-DNA_A04 from PGP sample 13272228
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
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_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
CGI sample GS00253-DNA_D01_200_37
hu728FFF build 36 substitution variants
var-GS18947-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
CGI sample GS01175-DNA_F02 from PGP sample 95788191 (hom)
CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom)
CGI sample GS01173-DNA_A07 from PGP sample 96240009 (hom)
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
var-GS19669-1100-36-ASM
var-GS06985-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
THSD7B T481Minsufficiently evaluated none, f=0.050unknown var-GS18942-1100-36-ASM
var-GS19735-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS00253-DNA_A02_200_37
var-GS06994-1100-36-ASM
CGI sample GS01173-DNA_B02 from PGP sample 94378523
var-GS18956-1100-36-ASM
THSD7B S503Finsufficiently evaluated not reviewed, f=0.000unknown var-GS18504-1100-36-ASM
THSD7B S548Linsufficiently evaluated none, f=0.003unknown var-GS18942-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034
var-GS18947-1100-36-ASM
THSD7B E635Kinsufficiently evaluated not reviewed, f=0.001unknown var-GS21767-1100-36-ASM
THSD7B H678Yinsufficiently evaluated not reviewed, f=0.056unknown var-GS19025-1100-36-ASM
hu3215A7 build 36 substitution variants
var-GS19239-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19026-1100-36-ASM (hom)
var-GS18517-1100-36-ASM
THSD7B S792Tinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_A04 from PGP sample 08188426
THSD7B H1163Linsufficiently evaluated noneunknown
THSD7B R1313Hinsufficiently evaluated not reviewed, f=0.008unknown var-GS19834-1100-36-ASM
THSD7B T1404Iinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_C05 from PGP sample 42408046
THSD7B K1471Rinsufficiently evaluated not reviewed, f=0.608unknown 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
CGI sample GS01669-DNA_F02 from PGP sample 40767107
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)
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
var-GS19735-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
CGI sample GS000006909
var-GS07357-1100-36-ASM
CGI sample GS000005532 (hom)
var-GS19703-1100-36-ASM (hom)
hu232307 build 36 substitution variants
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
var-GS19701-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS10851-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM (hom)
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM (hom)
var-GS19649-1100-36-ASM (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261
var-GS19648-1100-36-ASM (hom)
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom)
CGI sample GS00253-DNA_B01_200_37 (hom)
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS00253-DNA_F01_200_37 (hom)
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
var-GS19129-1100-36-ASM (hom)
CGI sample GS00253-DNA_D01_200_37
var-GS19240-1100-36-ASM
CGI sample GS00253-DNA_C01_200_37
hu728FFF build 36 substitution variants
var-GS18947-1100-36-ASM (hom)
var-GS18505-1100-36-ASM
var-GS19670-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37 (hom)
var-GS06994-1100-36-ASM (hom)
CGI sample GS00253-DNA_H01_200_37
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-GS18508-1100-36-ASM (hom)
var-GS19669-1100-36-ASM
var-GS19026-1100-36-ASM
var-GS18940-1100-36-ASM
var-GS06985-1100-36-ASM (hom)
var-GS18956-1100-36-ASM
var-GS18517-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
THSD7B N1472Dinsufficiently evaluated noneunknown hu728FFF build 36 substitution variants
THSD7B N1563Sinsufficiently evaluated not reviewedunknown
THTPA G102Rinsufficiently evaluated not reviewed, f=0.008unknown CGI sample GS000005532
var-GS19649-1100-36-ASM
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_B07 from PGP sample 61499538
THTPA V118Linsufficiently evaluated noneunknown
THTPA H163Rinsufficiently evaluated not reviewed, f=0.008unknown var-GS18501-1100-36-ASM
THTPA H176Rinsufficiently evaluated none, f=0.074unknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_H01 from PGP sample 94797469
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS18558-1100-36-ASM
CGI sample GS000006909
CGI sample GS01173-DNA_H06 from PGP sample 91708424
var-GS18555-1100-36-ASM
var-GS19648-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
var-GS19670-1100-36-ASM
var-GS18940-1100-36-ASM
var-GS18956-1100-36-ASM
THUMPD1 N66Sinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_F06 from PGP sample 64191565
THUMPD1 NN298KRinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_B05 from PGP sample 86486261
THUMPD1 N298Kinsufficiently evaluated not reviewedunknown CGI sample GS000006909
THUMPD1 E311Dinsufficiently evaluated none, f=0.126unknown var-GS19700-1100-36-ASM
var-GS07357-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS18555-1100-36-ASM (hom)
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034
var-GS19240-1100-36-ASM
var-GS18947-1100-36-ASM
var-GS19238-1100-36-ASM
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS18508-1100-36-ASM
var-GS20509-1100-36-ASM
THUMPD1 T322Minsufficiently evaluated not reviewed, f=0.001unknown var-GS18508-1100-36-ASM
THUMPD2 W82Cinsufficiently evaluated not reviewedunknown
THUMPD2 I125Minsufficiently evaluated none, f=0.008unknown var-GS19240-1100-36-ASM
var-GS19238-1100-36-ASM
THUMPD2 E158Delinsufficiently evaluated not reviewed, f=0.039unknown var-GS19704-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19129-1100-36-ASM
var-GS19026-1100-36-ASM
THUMPD2 G443Dinsufficiently evaluated not reviewedunknown
THUMPD3 V96Ainsufficiently evaluated not reviewed, f=0.001unknown
THUMPD3 D196Vinsufficiently evaluated not reviewed, f=0.000unknown
THUMPD3 S242Linsufficiently evaluated not reviewed, f=0.008unknown var-GS19735-1100-36-ASM
THUMPD3 E340Xinsufficiently evaluated noneunknown
THUMPD3 A454Vinsufficiently evaluated not reviewed, f=0.001unknown
THUMPD3 R459Qinsufficiently evaluated none, f=0.118unknown CGI sample GS00253-DNA_E01_200_37
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS19020-1100-36-ASM
CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM
var-GS12004-1100-36-ASM
CGI sample GS01669-DNA_B03 from PGP sample 14427241
var-GS19649-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS01173-DNA_F06 from PGP sample 64191565
var-GS06994-1100-36-ASM
CGI sample GS01175-DNA_F02 from PGP sample 95788191 (hom)
var-GS19669-1100-36-ASM
var-GS18940-1100-36-ASM
var-GS06985-1100-36-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
Total results: 313

Gene search

"GENE" or "GENE A123C":

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