GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
FH Y2Hinsufficiently evaluated not reviewedunknown

(43600 web hits)

FH A17Vinsufficiently evaluated not reviewed, f=0.000unknown

(72 web hits)

FH A20Tinsufficiently evaluated not reviewed, f=0.010unknown var-GS19735-1100-36-ASM
FH A21Vinsufficiently evaluated not reviewed, f=0.008unknown var-GS06994-1100-36-ASM
FH P26Linsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_A04 from PGP sample 08188426
FH R58Pinsufficiently evaluated pathogenicunknown

(76 web hits)

FH R58Xinsufficiently evaluated pathogenicunknown

(69 web hits)

FH N64Tinsufficiently evaluated pathogenicunknown

(75 web hits)

FH R101Qinsufficiently evaluated not reviewed, f=0.008unknown var-GS18940-1100-36-ASM
FH R190Hinsufficiently evaluated pathogenicunknown

(77 web hits)

FH R190Linsufficiently evaluated pathogenicunknown

(16 web hits)

FH A265Tinsufficiently evaluated pathogenicunknown

(11 web hits)

FH R300Xinsufficiently evaluated pathogenicunknown

(23 web hits)

FH E319Qinsufficiently evaluated pathogenicunknown

(18 web hits)

FHAD1 KA2NSinsufficiently evaluated not reviewed, f=0.008unknown var-GS19704-1100-36-ASM
FHAD1 P99Linsufficiently evaluated not reviewed, f=0.046unknown var-GS18942-1100-36-ASM (hom)
var-GS19703-1100-36-ASM
var-GS19701-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS18526-1100-36-ASM
CGI sample GS01669-DNA_A04 from PGP sample 08188426
FHAD1 D180Ninsufficiently evaluated not reviewed, f=0.009unknown var-GS18508-1100-36-ASM
FHAD1 R182Hinsufficiently evaluated none, f=0.309unknown CGI sample GS00253-DNA_E01_200_37
CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01669-DNA_F02 from PGP sample 40767107
hu34D5B9 exome
hu3215A7 build 36 substitution variants
var-GS19020-1100-36-ASM
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS19700-1100-36-ASM
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM
CGI sample GS000005532
var-GS19703-1100-36-ASM
hu232307 build 36 substitution variants
var-GS19701-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS19704-1100-36-ASM
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS18502-1100-36-ASM
var-GS19649-1100-36-ASM
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS00253-DNA_D01_200_37 (hom)
CGI sample GS00253-DNA_C01_200_37
var-GS18505-1100-36-ASM
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 (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
var-GS19669-1100-36-ASM
var-GS20509-1100-36-ASM
FHAD1 V252Iinsufficiently evaluated not reviewed, f=0.020unknown var-GS19025-1100-36-ASM
var-GS19703-1100-36-ASM
var-GS19834-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034
var-GS18505-1100-36-ASM
CGI sample GS01669-DNA_A04 from PGP sample 08188426
var-GS18508-1100-36-ASM
var-GS18940-1100-36-ASM
FHAD1 I356Minsufficiently evaluated none, f=0.060unknown CGI sample GS01175-DNA_G03 from PGP sample 92527586
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS000005532
CGI sample GS01175-DNA_A04 from PGP sample 13272228
CGI sample GS00253-DNA_H01_200_37
var-GS06985-1100-36-ASM
FHAD1 D402Vinsufficiently evaluated not reviewed, f=0.001unknown var-GS19026-1100-36-ASM
FHAD1 L492Vinsufficiently evaluated not reviewed, f=0.002unknown var-GS19129-1100-36-ASM
FHAD1 A502Vinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_C05 from PGP sample 42408046
FHAD1 A507Vinsufficiently evaluated not reviewed, f=0.004unknown var-GS19238-1100-36-ASM
FHAD1 N533Sinsufficiently evaluated not reviewedunknown
FHAD1 G651Rinsufficiently evaluated none, f=0.414unknown CGI sample GS00253-DNA_E01_200_37 (hom)
CGI sample GS01669-DNA_C07 from PGP sample 74521372
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
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
CGI sample GS01669-DNA_C05 from PGP sample 42408046 (hom)
var-GS19020-1100-36-ASM
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS18558-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom)
var-GS07357-1100-36-ASM
CGI sample GS000005532
var-GS19703-1100-36-ASM
var-GS12004-1100-36-ASM (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom)
CGI sample GS00253-DNA_G01_200_37
var-GS19704-1100-36-ASM (hom)
var-GS10851-1100-36-ASM
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19834-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19649-1100-36-ASM
var-GS18555-1100-36-ASM
var-GS19648-1100-36-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 (hom)
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS00253-DNA_F01_200_37
CGI sample GS01175-DNA_D01 from PGP sample 31286272
var-GS19129-1100-36-ASM
CGI sample GS00253-DNA_D01_200_37
var-GS19240-1100-36-ASM
CGI sample GS00253-DNA_C01_200_37
hu728FFF build 36 substitution variants (hom)
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
var-GS06994-1100-36-ASM (hom)
CGI sample GS01173-DNA_B02 from PGP sample 94378523 (hom)
CGI sample GS01173-DNA_A07 from PGP sample 96240009
var-GS18508-1100-36-ASM (hom)
var-GS19669-1100-36-ASM
var-GS19026-1100-36-ASM
var-GS06985-1100-36-ASM
var-GS18517-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199
FHAD1 R665Qinsufficiently evaluated not reviewed, f=0.077unknown

(2 web hits)

var-GS19025-1100-36-ASM
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS19020-1100-36-ASM
var-GS18501-1100-36-ASM
CGI sample GS01175-DNA_B05 from PGP sample 83494370
CGI sample GS000005532
var-GS12004-1100-36-ASM
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_G01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19648-1100-36-ASM
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS00253-DNA_F01_200_37
var-GS18505-1100-36-ASM
CGI sample GS01173-DNA_B02 from PGP sample 94378523
var-GS18508-1100-36-ASM
var-GS19026-1100-36-ASM
var-GS06985-1100-36-ASM
var-GS18517-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199
FHAD1 A851Ginsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B05 from PGP sample 83494370
FHAD1 E919Ginsufficiently evaluated none, f=0.286unknown var-GS19025-1100-36-ASM
CGI sample GS01175-DNA_H01 from PGP sample 94797469
var-GS18942-1100-36-ASM (hom)
var-GS19020-1100-36-ASM
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS18558-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM
CGI sample GS000005532
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
var-GS19704-1100-36-ASM
var-GS10851-1100-36-ASM (hom)
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19017-1100-36-ASM
var-GS19649-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS00253-DNA_B01_200_37
var-GS20502-1100-36-ASM (hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
var-GS19129-1100-36-ASM
var-GS18526-1100-36-ASM
var-GS18505-1100-36-ASM
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS06985-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
FHAD1 D964Ginsufficiently evaluated none, f=0.003unknown var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM
FHAD1 V1068Iinsufficiently evaluated not reviewed, f=0.007unknown var-GS19017-1100-36-ASM
FHAD1 R1160Qinsufficiently evaluated not reviewed, f=0.008unknown var-GS18940-1100-36-ASM
FHAD1 A1167Vinsufficiently evaluated not reviewed, f=0.028unknown var-GS19020-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS19670-1100-36-ASM
var-GS18508-1100-36-ASM
var-GS19026-1100-36-ASM
FHAD1 V1235Ainsufficiently evaluated not reviewed, f=0.008unknown var-GS18555-1100-36-ASM
FHAD1 M1262Vinsufficiently evaluated none, f=0.017unknown hu34D5B9 exome
var-GS19648-1100-36-ASM
CGI sample GS00253-DNA_D01_200_37
CGI sample GS01173-DNA_B07 from PGP sample 61499538
FHAD1 D1288Ninsufficiently evaluated not reviewed, f=0.015unknown var-GS19834-1100-36-ASM
var-GS19129-1100-36-ASM
FHAD1 R1319Ginsufficiently evaluated not reviewed, f=0.000unknown var-GS19025-1100-36-ASM
FHAD1 I1325Vinsufficiently evaluated none, f=0.355unknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01173-DNA_C02 from PGP sample 10366372
var-GS19025-1100-36-ASM
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 (hom)
var-GS19700-1100-36-ASM (hom)
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM (hom)
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909
var-GS19703-1100-36-ASM
CGI sample GS00253-DNA_G01_200_37
var-GS21767-1100-36-ASM
var-GS19704-1100-36-ASM (hom)
var-GS10851-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19834-1100-36-ASM (hom)
var-GS19239-1100-36-ASM (hom)
var-GS19017-1100-36-ASM (hom)
var-GS18502-1100-36-ASM (hom)
var-GS19648-1100-36-ASM (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 (hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034
var-GS19129-1100-36-ASM (hom)
CGI sample GS00253-DNA_D01_200_37
var-GS19240-1100-36-ASM (hom)
var-GS18526-1100-36-ASM
var-GS18505-1100-36-ASM (hom)
var-GS19238-1100-36-ASM (hom)
var-GS19670-1100-36-ASM
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS18508-1100-36-ASM
var-GS19669-1100-36-ASM
var-GS19026-1100-36-ASM (hom)
var-GS20509-1100-36-ASM
var-GS06985-1100-36-ASM
var-GS18956-1100-36-ASM
var-GS18517-1100-36-ASM (hom)
FHAD1 R1355Sinsufficiently evaluated not reviewed, f=0.008unknown var-GS18508-1100-36-ASM
FHAD1 Q1362Rinsufficiently evaluated not reviewed, f=0.000unknown var-GS18517-1100-36-ASM
FHAD1 S1381Tinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_A04 from PGP sample 08188426
FHDC1 T155Ainsufficiently evaluated not reviewedunknown CGI sample GS00253-DNA_D01_200_37
FHDC1 A172Tinsufficiently evaluated none, f=0.037unknown hu34D5B9 exome
var-GS18501-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
var-GS18505-1100-36-ASM
var-GS19670-1100-36-ASM
var-GS19026-1100-36-ASM
var-GS18956-1100-36-ASM (hom)
FHDC1 R174Winsufficiently evaluated not reviewed, f=0.000unknown CGI sample GS00253-DNA_B02_200_37
FHDC1 V232Minsufficiently evaluated not reviewed, f=0.000unknown
FHDC1 R485Hinsufficiently evaluated not reviewed, f=0.000unknown var-GS19020-1100-36-ASM
var-GS19026-1100-36-ASM
FHDC1 P534Rinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_B02 from PGP sample 94378523
FHDC1 R573Winsufficiently evaluated not reviewed, f=0.016unknown var-GS18947-1100-36-ASM
var-GS18940-1100-36-ASM
FHDC1 S605Linsufficiently evaluated not reviewed, f=0.009unknown
FHDC1 A619Einsufficiently evaluated none, f=0.012unknown var-GS18517-1100-36-ASM
FHDC1 R639Cinsufficiently evaluated none, f=0.577unknown 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
CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01175-DNA_H01 from PGP sample 94797469 (hom)
hu34D5B9 exome (hom)
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) (hom)
var-GS18942-1100-36-ASM
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
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 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 (hom)
CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)
var-GS21767-1100-36-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
var-GS19649-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
var-GS19648-1100-36-ASM (hom)
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 (hom)
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01173-DNA_F06 from PGP sample 64191565 (hom)
CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom)
CGI sample GS00253-DNA_F01_200_37
var-GS20502-1100-36-ASM (hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034
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
var-GS18526-1100-36-ASM (hom)
var-GS18947-1100-36-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 (hom)
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom)
CGI sample GS01173-DNA_A07 from PGP sample 96240009 (hom)
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
var-GS20509-1100-36-ASM (hom)
var-GS18940-1100-36-ASM
var-GS06985-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
FHDC1 S734Cinsufficiently evaluated none, f=0.013unknown var-GS18517-1100-36-ASM
FHDC1 G847Sinsufficiently evaluated not reviewed, f=0.003unknown var-GS18501-1100-36-ASM
FHDC1 S1042Ainsufficiently evaluated not reviewed, f=0.000unknown var-GS19025-1100-36-ASM
FHL1 C104Rinsufficiently evaluated pathogenicunknown

(1 web hit)

FHL1 W122Sinsufficiently evaluated pathogenicunknown

(7 web hits)

FHL1 H123Yinsufficiently evaluated pathogenicunknown

(5 web hits)

FHL1 C132Finsufficiently evaluated pathogenicunknown

(5 web hits)

FHL1 C150Yinsufficiently evaluated pathogenicunknown

(1 web hit)

FHL1 C153Rinsufficiently evaluated pathogenicunknown

(5 web hits)

FHL1 C153Yinsufficiently evaluated pathogenicunknown

(4 web hits)

FHL1 C209Rinsufficiently evaluated pathogenicunknown

(7 web hits)

FHL1 C224Winsufficiently evaluated pathogenicunknown

(26 web hits)

FHL1 D275Ninsufficiently evaluated not reviewed, f=0.011unknown var-GS12004-1100-36-ASM
FHL2 E12Ginsufficiently evaluated not reviewed, f=0.008unknown var-GS19239-1100-36-ASM
FHL2 V29Minsufficiently evaluated not reviewed, f=0.002unknown var-GS07357-1100-36-ASM
var-GS21767-1100-36-ASM
FHL2 R177Qinsufficiently evaluated not reviewed, f=0.016unknown var-GS18504-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
FHL3 A103Tinsufficiently evaluated none, f=0.018unknown var-GS19240-1100-36-ASM
var-GS19238-1100-36-ASM
FHL3 E133Dinsufficiently evaluated not reviewedunknown
FHL3 V151Minsufficiently evaluated none, f=0.008unknown CGI sample GS00253-DNA_A01_200_37
FHL5 R35Hinsufficiently evaluated none, f=0.027unknown hu34D5B9 exome
CGI sample GS000005532
CGI sample GS00253-DNA_G01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS00253-DNA_C01_200_37
var-GS20509-1100-36-ASM
FHL5 R204Ginsufficiently evaluated none, f=0.390unknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_G03 from PGP sample 92527586 (hom)
var-GS19025-1100-36-ASM
hu34D5B9 exome
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-ASM (hom)
var-GS18558-1100-36-ASM
CGI sample GS000006909 (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom)
CGI sample GS000005532
var-GS19703-1100-36-ASM (hom)
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM (hom)
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS00253-DNA_G01_200_37
var-GS21767-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS10851-1100-36-ASM
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-GS19648-1100-36-ASM (hom)
var-GS18537-1100-36-ASM (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom)
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS00253-DNA_F01_200_37
var-GS20502-1100-36-ASM
var-GS19129-1100-36-ASM
var-GS19240-1100-36-ASM (hom)
hu728FFF build 36 substitution variants
var-GS18505-1100-36-ASM (hom)
var-GS19238-1100-36-ASM
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 (hom)
CGI sample GS01173-DNA_A07 from PGP sample 96240009
var-GS18508-1100-36-ASM (hom)
var-GS19669-1100-36-ASM
var-GS19026-1100-36-ASM (hom)
var-GS06985-1100-36-ASM
var-GS18956-1100-36-ASM
var-GS18517-1100-36-ASM
FHL5 V211Minsufficiently evaluated none, f=0.285unknown CGI sample GS00253-DNA_E01_200_37
CGI sample GS01669-DNA_C07 from PGP sample 74521372 (hom)
CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01175-DNA_H01 from PGP sample 94797469 (hom)
hu34D5B9 exome
hu3215A7 build 36 substitution variants
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS18942-1100-36-ASM
CGI sample GS01669-DNA_C05 from PGP sample 42408046 (hom)
CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom)
var-GS18558-1100-36-ASM
var-GS19735-1100-36-ASM (hom)
var-GS07357-1100-36-ASM (hom)
CGI sample GS000005532
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_G01_200_37
CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19834-1100-36-ASM
var-GS19649-1100-36-ASM (hom)
var-GS18555-1100-36-ASM (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 (hom)
CGI sample GS00253-DNA_F01_200_37
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (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
var-GS18947-1100-36-ASM
var-GS19670-1100-36-ASM (hom)
CGI sample GS00253-DNA_A02_200_37 (hom)
var-GS06994-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_A07 from PGP sample 96240009
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS19669-1100-36-ASM
var-GS20509-1100-36-ASM (hom)
var-GS18940-1100-36-ASM (hom)
var-GS06985-1100-36-ASM
var-GS18956-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
FHL5 S243Rinsufficiently evaluated none, f=0.384unknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_G03 from PGP sample 92527586 (hom)
hu34D5B9 exome
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS18558-1100-36-ASM
CGI sample GS000006909 (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370
CGI sample GS000005532
var-GS19703-1100-36-ASM (hom)
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM (hom)
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample 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 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-GS19648-1100-36-ASM (hom)
var-GS18537-1100-36-ASM (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom)
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS00253-DNA_F01_200_37
var-GS20502-1100-36-ASM
var-GS19240-1100-36-ASM (hom)
hu728FFF build 36 substitution variants
var-GS18505-1100-36-ASM (hom)
var-GS19238-1100-36-ASM
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 (hom)
CGI sample GS01173-DNA_A07 from PGP sample 96240009
var-GS18508-1100-36-ASM (hom)
var-GS19669-1100-36-ASM
var-GS19026-1100-36-ASM
var-GS06985-1100-36-ASM
var-GS18956-1100-36-ASM
FHOD1 S358Cinsufficiently evaluated not reviewed, f=0.008unknown var-GS19700-1100-36-ASM
FHOD1 S433Finsufficiently evaluated not reviewedunknown
FHOD1 R506Qinsufficiently evaluated none, f=0.007unknown var-GS19701-1100-36-ASM
var-GS19129-1100-36-ASM
FHOD1 P533Linsufficiently evaluated none, f=0.043unknown CGI sample GS00253-DNA_E01_200_37
var-GS19025-1100-36-ASM
CGI sample GS000006909
var-GS19649-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS00253-DNA_C01_200_37
CGI sample GS01175-DNA_F02 from PGP sample 95788191
FHOD1 R905Pinsufficiently evaluated not reviewedunknown
FHOD1 R991Winsufficiently evaluated not reviewed, f=0.002unknown var-GS18502-1100-36-ASM
FHOD1 V1034Finsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_F02 from PGP sample 40767107
FHOD1 HN1066QSinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
FHOD3 I199Vinsufficiently evaluated none, f=0.011unknown var-GS18555-1100-36-ASM (hom)
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
FHOD3 N405Sinsufficiently evaluated not reviewed, f=0.001unknown CGI sample GS00253-DNA_H01_200_37
FHOD3 A535Ginsufficiently evaluated none, f=0.143unknown 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_C05 from PGP sample 42408046
CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370
CGI sample GS00253-DNA_G01_200_37
var-GS19649-1100-36-ASM
var-GS19648-1100-36-ASM
CGI sample GS01173-DNA_F06 from PGP sample 64191565
var-GS20502-1100-36-ASM
var-GS06994-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
FHOD3 P547Sinsufficiently evaluated none, f=0.013unknown

(3 web hits)

var-GS19704-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
var-GS19240-1100-36-ASM
FHOD3 Q599Rinsufficiently evaluated unknown, f=0.023unknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
hu34D5B9 exome
CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS01669-DNA_B05 from PGP sample 86486261
hu728FFF build 36 substitution variants
var-GS19669-1100-36-ASM
FHOD3 V647Finsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_D02 from PGP sample 27316983
FHOD3 P707Linsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_B02 from PGP sample 94378523
FHOD3 V874Iinsufficiently evaluated not reviewed, f=0.003unknown var-GS21767-1100-36-ASM
var-GS19026-1100-36-ASM
FHOD3 K909Shiftinsufficiently evaluated not reviewedunknown CGI sample GS000006909
FHOD3 V1151Iinsufficiently evaluated none, f=0.352unknown 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)
var-GS19025-1100-36-ASM
CGI sample GS01669-DNA_F02 from PGP sample 40767107
hu34D5B9 exome
var-GS18942-1100-36-ASM (hom)
var-GS19020-1100-36-ASM
var-GS19700-1100-36-ASM (hom)
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS18558-1100-36-ASM
var-GS19735-1100-36-ASM
var-GS07357-1100-36-ASM
CGI sample GS000005532
var-GS19703-1100-36-ASM (hom)
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom)
var-GS19704-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM (hom)
var-GS18502-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
var-GS19648-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_B02_200_37
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 (hom)
var-GS19129-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS18505-1100-36-ASM
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01175-DNA_B04 from PGP sample 88590671 (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 (hom)
var-GS06985-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
FHOD3 G1367Ainsufficiently evaluated not reviewed, f=0.004unknown CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS00253-DNA_A02_200_37
Page: 1 2 3 4 5 6 7 8 9 10
Total results: 93

Gene search

"GENE" or "GENE A123C":

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