GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
HP D24Shiftinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_D05 from PGP sample 1205491
HP A29Tinsufficiently evaluated not reviewedunknown

(108 web hits)

HP K54Einsufficiently evaluated pathogenicunknown

(104 web hits)

HP D70Ninsufficiently evaluated not reviewed, f=0.008unknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS01173-DNA_G02 from PGP sample 67180598
var-GS07357-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228
CGI sample GS01173-DNA_F06 from PGP sample 64191565
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
HP E71Kinsufficiently evaluated not reviewedunknown
HP K71Einsufficiently evaluated not reviewed, f=0.008unknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS01173-DNA_G02 from PGP sample 67180598
var-GS07357-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228
CGI sample GS01173-DNA_F06 from PGP sample 64191565
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
HP N129Dinsufficiently evaluated not reviewed, f=0.064unknown CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS18505-1100-36-ASM
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01173-DNA_A07 from PGP sample 96240009
var-GS18508-1100-36-ASM
var-GS19026-1100-36-ASM
HP E130Kinsufficiently evaluated not reviewed, f=0.046unknown CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS18505-1100-36-ASM
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01173-DNA_A07 from PGP sample 96240009
var-GS18508-1100-36-ASM
var-GS19026-1100-36-ASM
HP P155Rinsufficiently evaluated not reviewed, f=0.008unknown var-GS19670-1100-36-ASM
HP I247Tinsufficiently evaluated pathogenic, f=0.000unknown

(29 web hits)

HP1BP3 G8Dinsufficiently evaluated not reviewed, f=0.008unknown var-GS18940-1100-36-ASM
HP1BP3 T237Shiftinsufficiently evaluated not reviewed, f=0.008unknown var-GS19735-1100-36-ASM
HP1BP3 A470Tinsufficiently evaluated not reviewed, f=0.000unknown PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
HP1BP3 K517Rinsufficiently evaluated not reviewed, f=0.001unknown
HPD A33Tinsufficiently evaluated pathogenicunknown

(22 web hits)

HPD T33Ainsufficiently evaluated none, f=0.902unknown

(10 web hits)

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
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
var-GS19703-1100-36-ASM (hom)
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM (hom)
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241 (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
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
var-GS18555-1100-36-ASM
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 (hom)
CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom)
CGI sample GS00253-DNA_F01_200_37 (hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (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
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
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 (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)
HPD R113Qinsufficiently evaluated none, f=0.026unknown

(2 web hits)

var-GS19025-1100-36-ASM (hom)
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS19240-1100-36-ASM
HPD Y160Cinsufficiently evaluated pathogenicunknown

(6 web hits)

HPD M166Iinsufficiently evaluated not reviewed, f=0.002unknown var-GS19701-1100-36-ASM
CGI sample GS01175-DNA_D05 from PGP sample 1205491
HPD D167Ninsufficiently evaluated none, f=0.003unknown
HPD Y200Xinsufficiently evaluated pathogenic, f=0.000unknown

(2 web hits)

HPD Y258Xinsufficiently evaluated pathogenicunknown

(2 web hits)

HPD V301Linsufficiently evaluated not reviewedunknown
HPD I335Minsufficiently evaluated pathogenic, f=0.001unknown

(2 web hits)

HPD V340Linsufficiently evaluated none, f=0.011unknown CGI sample GS00253-DNA_E01_200_37
CGI sample GS000005532
CGI sample GS00253-DNA_F01_200_37
HPDL G292Einsufficiently evaluated not reviewedunknown
HPGD A140Pinsufficiently evaluated pathogenicunknown
HPGD S193Pinsufficiently evaluated pathogenicunknown
HPGD N227Sinsufficiently evaluated not reviewed, f=0.008unknown var-GS18537-1100-36-ASM
CGI sample GS01173-DNA_A07 from PGP sample 96240009
HPGDS V187Iinsufficiently evaluated not reviewed, f=0.019unknown var-GS19700-1100-36-ASM
HPN S362Rinsufficiently evaluated not reviewedunknown
HPR T27Minsufficiently evaluated not reviewed, f=0.043unknown var-GS12004-1100-36-ASM
var-GS19670-1100-36-ASM
CGI sample GS01173-DNA_B02 from PGP sample 94378523
var-GS20509-1100-36-ASM
HPR A156Vinsufficiently evaluated none, f=0.036unknown var-GS19020-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS19703-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
var-GS19240-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS18508-1100-36-ASM
var-GS18517-1100-36-ASM
HPR R203Kinsufficiently evaluated none, f=0.073unknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
var-GS18504-1100-36-ASM
var-GS18555-1100-36-ASM
var-GS18537-1100-36-ASM
var-GS19238-1100-36-ASM (hom)
var-GS18508-1100-36-ASM (hom)
var-GS20509-1100-36-ASM
var-GS18517-1100-36-ASM
HPR R219Hinsufficiently evaluated not reviewed, f=0.000unknown var-GS18942-1100-36-ASM
HPR V283Ainsufficiently evaluated none, f=0.081unknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
var-GS19020-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS19703-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS18555-1100-36-ASM
var-GS18537-1100-36-ASM
var-GS19240-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM (hom)
var-GS20509-1100-36-ASM
var-GS18517-1100-36-ASM
HPR H339Dinsufficiently evaluated none, f=0.275unknown 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 GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome (hom)
hu3215A7 build 36 substitution variants
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS18942-1100-36-ASM
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM (hom)
var-GS18558-1100-36-ASM
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM
CGI sample GS000005532 (hom)
hu232307 build 36 substitution variants
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
var-GS21767-1100-36-ASM (hom)
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-GS19649-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
var-GS19648-1100-36-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
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_D01 from PGP sample 31286272
var-GS19129-1100-36-ASM
CGI sample GS00253-DNA_D01_200_37
CGI sample GS00253-DNA_C01_200_37
hu728FFF build 36 substitution variants (hom)
var-GS06994-1100-36-ASM
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_A07 from PGP sample 96240009
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS19026-1100-36-ASM
var-GS18940-1100-36-ASM
var-GS06985-1100-36-ASM
var-GS18956-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
HPRT G16Sinsufficiently evaluated pathogenicunknown

(6 web hits)

HPRT L41Pinsufficiently evaluated pathogenicunknown

(1 web hit)

HPRT R44Kinsufficiently evaluated pathogenicunknown

(2 web hits)

HPRT R51Ginsufficiently evaluated pathogenicunknown

(2 web hits)

HPRT R51Xinsufficiently evaluated pathogenicunknown

(10 web hits)

HPRT D52Ginsufficiently evaluated pathogenicunknown

(1 web hit)

HPRT M56Tinsufficiently evaluated pathogenicunknown
HPRT G58Rinsufficiently evaluated pathogenicunknown
HPRT L65Finsufficiently evaluated pathogenicunknown

(1 web hit)

HPRT G70Einsufficiently evaluated pathogenicunknown

(11 web hits)

HPRT G71Rinsufficiently evaluated pathogenicunknown

(2 web hits)

HPRT F74Linsufficiently evaluated pathogenicunknown

(3 web hits)

HPRT L78Vinsufficiently evaluated pathogenicunknown
HPRT D80Vinsufficiently evaluated pathogenicunknown
HPRT S104Rinsufficiently evaluated pathogenicunknown
HPRT Q108Xinsufficiently evaluated pathogenicunknown
HPRT S110Linsufficiently evaluated pathogenicunknown

(1 web hit)

HPRT V130Dinsufficiently evaluated pathogenicunknown

(1 web hit)

HPRT I132Minsufficiently evaluated pathogenicunknown

(1 web hit)

HPRT G140Dinsufficiently evaluated pathogenicunknown
HPRT M143Kinsufficiently evaluated pathogenicunknown
HPRT Y153Xinsufficiently evaluated pathogenicunknown

(2 web hits)

HPRT A161Sinsufficiently evaluated pathogenicunknown
HPRT T168Iinsufficiently evaluated pathogenicunknown
HPRT R170Xinsufficiently evaluated pathogenicunknown
HPRT D176Yinsufficiently evaluated pathogenicunknown
HPRT P176Linsufficiently evaluated pathogenicunknown
HPRT D194Einsufficiently evaluated pathogenicunknown
HPRT F199Vinsufficiently evaluated pathogenicunknown
HPRT D201Ginsufficiently evaluated pathogenicunknown

(1 web hit)

HPRT H203Dinsufficiently evaluated pathogenicunknown
HPS1 V4Ainsufficiently evaluated none, f=0.034unknown

(2 web hits)

var-GS18504-1100-36-ASM (hom)
CGI sample GS00253-DNA_F01_200_37
var-GS19129-1100-36-ASM
CGI sample GS00253-DNA_D01_200_37
var-GS18956-1100-36-ASM
HPS1 E9Dinsufficiently evaluated not reviewed, f=0.004unknown

(2 web hits)

HPS1 E133Xinsufficiently evaluated pathogenicunknown

(9 web hits)

HPS1 R260Qinsufficiently evaluated none, f=0.010unknown

(2 web hits)

HPS1 R263Wuncertain benign, f=0.001unknown

Rare, tentatively evaluated as benign. Polyphen 2 predicts a damaging effect and other variants in this gene cause Hermansky-Pudlak Syndrome in a recessive manner, but these are generally more serious mutations (nonsense or frameshift).

CGI sample GS00253-DNA_A02_200_37
HPS1 G283Ainsufficiently evaluated none, f=0.006unknown

(1 web hit)

HPS1 G283Winsufficiently evaluated none, f=0.059unknown

(3 web hits)

CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS10851-1100-36-ASM
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS01175-DNA_D05 from PGP sample 1205491
var-GS18505-1100-36-ASM
CGI sample GS01173-DNA_B02 from PGP sample 94378523
var-GS06985-1100-36-ASM
HPS1 G412Vinsufficiently evaluated not reviewedunknown
HPS1 P491Rinsufficiently evaluated none, f=0.096unknown

(12 web hits)

var-GS19025-1100-36-ASM (hom)
CGI sample GS01669-DNA_F02 from PGP sample 40767107
var-GS19735-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS01173-DNA_H06 from PGP sample 91708424
var-GS21767-1100-36-ASM (hom)
var-GS10851-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS00253-DNA_B01_200_37
CGI sample GS00253-DNA_D01_200_37
var-GS19240-1100-36-ASM (hom)
var-GS18947-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS19670-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
var-GS18517-1100-36-ASM
HPS1 Q603Rinsufficiently evaluated none, f=0.164unknown

(3 web hits)

var-GS19025-1100-36-ASM (hom)
var-GS19735-1100-36-ASM
var-GS19701-1100-36-ASM
var-GS21767-1100-36-ASM (hom)
var-GS10851-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS18537-1100-36-ASM
var-GS19129-1100-36-ASM
var-GS19240-1100-36-ASM (hom)
var-GS18947-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS18517-1100-36-ASM
HPS1 Q604Rinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS00253-DNA_B01_200_37
CGI sample GS00253-DNA_D01_200_37
CGI sample GS00253-DNA_A02_200_37
HPS1 E666Xinsufficiently evaluated pathogenicunknown

(5 web hits)

HPS3 V189Ainsufficiently evaluated not reviewedunknown
HPS3 E275Kinsufficiently evaluated none, f=0.006unknown var-GS19240-1100-36-ASM
var-GS19238-1100-36-ASM
HPS3 R396Winsufficiently evaluated pathogenicunknown

(18 web hits)

HPS3 G739Rinsufficiently evaluated none, f=0.012unknown

(1 web hit)

HPS3 L786Pinsufficiently evaluated not reviewedunknown
HPS4 I79Vinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_D01 from PGP sample 31286272
HPS4 E138Xinsufficiently evaluated pathogenicunknown

(7 web hits)

HPS4 R180Hinsufficiently evaluated not reviewedunknown
HPS4 Q181Xinsufficiently evaluated pathogenicunknown

(4 web hits)

HPS4 R185Hinsufficiently evaluated not reviewedunknown
HPS4 R217Xinsufficiently evaluated pathogenicunknown

(7 web hits)

HPS4 E222Xinsufficiently evaluated pathogenicunknown

(7 web hits)

HPS4 E224Ginsufficiently evaluated not reviewed, f=0.821unknown

(22 web hits)

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
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
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS19020-1100-36-ASM (hom)
CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom)
var-GS19700-1100-36-ASM (hom)
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-ASM (hom)
var-GS18558-1100-36-ASM
var-GS19735-1100-36-ASM (hom)
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909 (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom)
var-GS07357-1100-36-ASM (hom)
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
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-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
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
var-GS18537-1100-36-ASM (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom)
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom)
CGI sample GS00253-DNA_B01_200_37 (hom)
CGI sample GS01173-DNA_F06 from PGP sample 64191565 (hom)
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS00253-DNA_F01_200_37
var-GS20502-1100-36-ASM (hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
var-GS19129-1100-36-ASM
CGI sample GS00253-DNA_D01_200_37 (hom)
var-GS19240-1100-36-ASM (hom)
CGI sample GS00253-DNA_C01_200_37 (hom)
var-GS18526-1100-36-ASM (hom)
hu728FFF build 36 substitution variants (hom)
var-GS18947-1100-36-ASM (hom)
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS19670-1100-36-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_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
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
var-GS18508-1100-36-ASM
var-GS19669-1100-36-ASM (hom)
var-GS20509-1100-36-ASM (hom)
var-GS18940-1100-36-ASM
var-GS06985-1100-36-ASM
var-GS18956-1100-36-ASM
var-GS18517-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
HPS4 E229Ginsufficiently evaluated not reviewedunknown

(1 web hit)

hu728FFF build 36 substitution variants (hom)
HPS4 A232Vinsufficiently evaluated not reviewed, f=0.004unknown var-GS18502-1100-36-ASM
HPS4 G342Vinsufficiently evaluated noneunknown
HPS4 G347Vinsufficiently evaluated noneunknown
HPS4 L438Vinsufficiently evaluated not reviewed, f=0.375unknown CGI sample GS01173-DNA_C02 from PGP sample 10366372 (hom)
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome (hom)
hu3215A7 build 36 substitution variants (hom)
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) (hom)
var-GS18942-1100-36-ASM
CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom)
var-GS18504-1100-36-ASM
var-GS18558-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS01175-DNA_B05 from PGP sample 83494370
CGI sample GS000005532
var-GS19703-1100-36-ASM
CGI sample GS01669-DNA_B03 from PGP sample 14427241
var-GS21767-1100-36-ASM
var-GS10851-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19649-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01173-DNA_F06 from PGP sample 64191565 (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
hu728FFF build 36 substitution variants
var-GS18947-1100-36-ASM (hom)
CGI sample GS00253-DNA_A02_200_37
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_B07 from PGP sample 61499538
var-GS20509-1100-36-ASM
var-GS06985-1100-36-ASM
var-GS18517-1100-36-ASM
HPS4 L443Vinsufficiently evaluated not reviewedunknown

(1 web hit)

hu728FFF build 36 substitution variants
HPS4 V547Minsufficiently evaluated not reviewed, f=0.821unknown 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
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
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS19020-1100-36-ASM (hom)
CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom)
var-GS19700-1100-36-ASM (hom)
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-ASM (hom)
var-GS18558-1100-36-ASM
var-GS19735-1100-36-ASM (hom)
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909 (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom)
var-GS07357-1100-36-ASM (hom)
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
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-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
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
var-GS18537-1100-36-ASM (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom)
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom)
CGI sample GS01173-DNA_F06 from PGP sample 64191565 (hom)
CGI sample GS01175-DNA_D05 from PGP sample 1205491
var-GS20502-1100-36-ASM (hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
var-GS19129-1100-36-ASM
CGI sample GS00253-DNA_D01_200_37 (hom)
CGI sample GS00253-DNA_C01_200_37 (hom)
var-GS18526-1100-36-ASM (hom)
hu728FFF build 36 substitution variants (hom)
var-GS18947-1100-36-ASM (hom)
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS19670-1100-36-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_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
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
var-GS18508-1100-36-ASM
var-GS19669-1100-36-ASM (hom)
var-GS20509-1100-36-ASM (hom)
var-GS18940-1100-36-ASM
var-GS06985-1100-36-ASM
var-GS18956-1100-36-ASM
var-GS18517-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
HPS4 V552Minsufficiently evaluated not reviewedunknown

(1 web hit)

hu728FFF build 36 substitution variants (hom)
HPS4 H601Yinsufficiently evaluated not reviewed, f=0.868unknown

(2 web hits)

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
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
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS19020-1100-36-ASM (hom)
CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom)
var-GS19700-1100-36-ASM (hom)
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-ASM (hom)
var-GS18558-1100-36-ASM
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
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
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
var-GS19649-1100-36-ASM (hom)
var-GS18555-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
var-GS19648-1100-36-ASM (hom)
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
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 (hom)
var-GS19129-1100-36-ASM
CGI sample GS00253-DNA_D01_200_37 (hom)
var-GS19240-1100-36-ASM (hom)
CGI sample GS00253-DNA_C01_200_37 (hom)
var-GS18526-1100-36-ASM (hom)
hu728FFF build 36 substitution variants (hom)
var-GS18947-1100-36-ASM (hom)
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS19670-1100-36-ASM (hom)
CGI sample GS00253-DNA_A02_200_37 (hom)
var-GS06994-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37 (hom)
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
CGI sample GS01175-DNA_F02 from PGP sample 95788191 (hom)
CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom)
CGI sample GS01173-DNA_B02 from PGP sample 94378523 (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-GS19669-1100-36-ASM (hom)
var-GS20509-1100-36-ASM (hom)
var-GS18940-1100-36-ASM
var-GS06985-1100-36-ASM
var-GS18956-1100-36-ASM
var-GS18517-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
HPS4 H606Yinsufficiently evaluated not reviewedunknown

(3 web hits)

hu728FFF build 36 substitution variants (hom)
HPS4 Q620Hinsufficiently evaluated not reviewed, f=0.868unknown

(2 web hits)

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
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
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS19020-1100-36-ASM (hom)
CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom)
var-GS19700-1100-36-ASM (hom)
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-ASM (hom)
var-GS18558-1100-36-ASM
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
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
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
var-GS19649-1100-36-ASM (hom)
var-GS18555-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
var-GS19648-1100-36-ASM (hom)
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
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 (hom)
var-GS19129-1100-36-ASM
CGI sample GS00253-DNA_D01_200_37 (hom)
var-GS19240-1100-36-ASM (hom)
CGI sample GS00253-DNA_C01_200_37 (hom)
var-GS18526-1100-36-ASM (hom)
hu728FFF build 36 substitution variants (hom)
var-GS18947-1100-36-ASM (hom)
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS19670-1100-36-ASM (hom)
CGI sample GS00253-DNA_A02_200_37 (hom)
var-GS06994-1100-36-ASM
CGI sample 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
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
var-GS18508-1100-36-ASM
var-GS19669-1100-36-ASM (hom)
var-GS20509-1100-36-ASM (hom)
var-GS18940-1100-36-ASM
var-GS06985-1100-36-ASM
var-GS18956-1100-36-ASM
var-GS18517-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
HPS4 R623Hinsufficiently evaluated none, f=0.003unknown var-GS18517-1100-36-ASM
HPS4 Q625Hinsufficiently evaluated not reviewedunknown

(3 web hits)

hu728FFF build 36 substitution variants (hom)
HPS4 R628Hinsufficiently evaluated noneunknown
HPS4 Q631Xinsufficiently evaluated pathogenicunknown

(5 web hits)

HPS5 A81Tinsufficiently evaluated not reviewed, f=0.001unknown var-GS20502-1100-36-ASM
HPS5 S289Tinsufficiently evaluated not reviewed, f=0.000unknown var-GS19703-1100-36-ASM
HPS5 L303Minsufficiently evaluated noneunknown
HPS5 L417Minsufficiently evaluated none, f=0.131unknown

(1 web hit)

CGI sample GS00253-DNA_E01_200_37
var-GS19025-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS19735-1100-36-ASM
var-GS12004-1100-36-ASM
var-GS19701-1100-36-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-GS19017-1100-36-ASM (hom)
var-GS18502-1100-36-ASM
var-GS19649-1100-36-ASM (hom)
var-GS18537-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01175-DNA_B01 from PGP sample 86206034
var-GS19129-1100-36-ASM
CGI sample GS00253-DNA_D01_200_37
var-GS19240-1100-36-ASM
var-GS18505-1100-36-ASM (hom)
var-GS19670-1100-36-ASM
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_B02 from PGP sample 94378523
var-GS19026-1100-36-ASM
var-GS18940-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
HPS5 H471Yinsufficiently evaluated not reviewed, f=0.000unknown var-GS19703-1100-36-ASM
HPS5 G501Rinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B04 from PGP sample 88590671
HPS5 E520Kinsufficiently evaluated noneunknown
HPS5 P564Sinsufficiently evaluated not reviewed, f=0.008unknown var-GS19669-1100-36-ASM
HPS5 E634Kinsufficiently evaluated noneunknown
HPS5 R963Winsufficiently evaluated noneunknown
HPS5 L1033Finsufficiently evaluated not reviewed, f=0.000unknown var-GS19703-1100-36-ASM
HPS5 R1077Winsufficiently evaluated none, f=0.000unknown var-GS18526-1100-36-ASM
HPS5 T1098Iinsufficiently evaluated not reviewed, f=0.026unknown CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS000006909
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19834-1100-36-ASM
CGI sample GS01175-DNA_D05 from PGP sample 1205491
HPS6 G211Ainsufficiently evaluated not reviewed, f=0.009unknown var-GS19735-1100-36-ASM
HPS6 L233Rinsufficiently evaluated not reviewed, f=0.007unknown CGI sample GS01175-DNA_D01 from PGP sample 31286272
var-GS20509-1100-36-ASM
HPS6 R265Shiftinsufficiently evaluated not reviewed, f=0.009unknown var-GS18555-1100-36-ASM
HPS6 V347Iinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_D01 from PGP sample 31286272
HPS6 E484Shiftinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_D01 from PGP sample 31286272
HPS6 A486Shiftinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_H01 from PGP sample 94797469
CGI sample GS01173-DNA_A07 from PGP sample 96240009
HPS6 A597Shiftinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B04 from PGP sample 88590671
HPS6 A597Pinsufficiently evaluated not reviewed, f=0.009unknown var-GS19669-1100-36-ASM
HPS6 G599Shiftinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B04 from PGP sample 88590671
HPS6 R606Cinsufficiently evaluated noneunknown
HPS6 T710Ainsufficiently evaluated not reviewed, f=0.008unknown var-GS19025-1100-36-ASM
HPS6 G717Rinsufficiently evaluated not reviewedunknown
HPSE K161Qinsufficiently evaluated noneunknown
HPSE A233Ginsufficiently evaluated not reviewed, f=0.001unknown var-GS19669-1100-36-ASM
HPSE K307Rinsufficiently evaluated none, f=0.796unknown CGI sample GS00253-DNA_E01_200_37 (hom)
CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01173-DNA_C02 from PGP sample 10366372 (hom)
CGI sample GS01175-DNA_G03 from PGP sample 92527586 (hom)
var-GS19025-1100-36-ASM (hom)
CGI sample GS01669-DNA_F02 from PGP sample 40767107 (hom)
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome (hom)
hu3215A7 build 36 substitution variants
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) (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)
var-GS07357-1100-36-ASM (hom)
CGI sample GS000005532 (hom)
var-GS19703-1100-36-ASM
hu232307 build 36 substitution variants (hom)
var-GS12004-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom)
CGI sample GS00253-DNA_G01_200_37 (hom)
var-GS19701-1100-36-ASM (hom)
CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)
var-GS21767-1100-36-ASM (hom)
var-GS19704-1100-36-ASM (hom)
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
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 (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 (hom)
CGI sample GS00253-DNA_F01_200_37 (hom)
var-GS20502-1100-36-ASM (hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
var-GS19129-1100-36-ASM (hom)
CGI sample GS00253-DNA_D01_200_37
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 (hom)
var-GS19670-1100-36-ASM
var-GS06994-1100-36-ASM (hom)
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
CGI sample GS01175-DNA_F02 from PGP sample 95788191 (hom)
CGI sample GS01175-DNA_B04 from PGP sample 88590671
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
var-GS18940-1100-36-ASM (hom)
var-GS06985-1100-36-ASM
var-GS18956-1100-36-ASM (hom)
var-GS18517-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
HPSE2 N15Sinsufficiently evaluated not reviewed, f=0.008unknown var-GS18505-1100-36-ASM
HPSE2 P19Sinsufficiently evaluated none, f=0.008unknown

(2 web hits)

var-GS18956-1100-36-ASM
HPSE2 D43Ninsufficiently evaluated not reviewed, f=0.008unknown var-GS19701-1100-36-ASM
HPSE2 Y211Hinsufficiently evaluated not reviewed, f=0.008unknown hu34D5B9 exome
CGI sample GS000005532
HPSE2 A315Tinsufficiently evaluated none, f=0.014unknown

(6 web hits)

var-GS19129-1100-36-ASM
var-GS18505-1100-36-ASM
HPSE2 Y467Finsufficiently evaluated not reviewedunknown hu728FFF build 36 substitution variants
HPSE2 T516TGTinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_B05 from PGP sample 86486261
HPSE2 Y521Finsufficiently evaluated not reviewedunknown hu728FFF build 36 substitution variants
HPSE2 Y579Finsufficiently evaluated none, f=0.535unknown CGI sample GS01669-DNA_C07 from PGP sample 74521372 (hom)
CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_G03 from PGP sample 92527586
var-GS19025-1100-36-ASM (hom)
CGI sample GS01669-DNA_F02 from PGP sample 40767107 (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
CGI sample GS01669-DNA_C05 from PGP sample 42408046
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-GS19735-1100-36-ASM (hom)
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM
CGI sample GS000005532 (hom)
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_G01_200_37
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 (hom)
var-GS10851-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37 (hom)
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM (hom)
var-GS18502-1100-36-ASM
var-GS19649-1100-36-ASM
var-GS18555-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
var-GS19648-1100-36-ASM (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS00253-DNA_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-GS19240-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS18505-1100-36-ASM
var-GS19670-1100-36-ASM (hom)
var-GS06994-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37 (hom)
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01173-DNA_A07 from PGP sample 96240009
var-GS18508-1100-36-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
var-GS18517-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
HPVC1 P24Linsufficiently evaluated not reviewed, f=0.016unknown var-GS12004-1100-36-ASM
var-GS19670-1100-36-ASM
HPVC1 C30Yinsufficiently evaluated not reviewed, f=0.016unknown var-GS19025-1100-36-ASM
var-GS19834-1100-36-ASM
HPVC1 V87Shiftinsufficiently evaluated not reviewed, f=0.010unknown var-GS19834-1100-36-ASM
var-GS19240-1100-36-ASM
HPVC1 F98Sinsufficiently evaluated not reviewed, f=0.008unknown var-GS19700-1100-36-ASM
HPVC1 S102Shiftinsufficiently evaluated not reviewed, f=0.008unknown var-GS19700-1100-36-ASM
HPVC1 V111Shiftinsufficiently evaluated not reviewed, f=0.009unknown var-GS18558-1100-36-ASM
HPVC1 F114Shiftinsufficiently evaluated not reviewed, f=0.008unknown var-GS19020-1100-36-ASM (hom)
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-ASM (hom)
var-GS19703-1100-36-ASM (hom)
var-GS19701-1100-36-ASM (hom)
var-GS21767-1100-36-ASM (hom)
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM (hom)
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM (hom)
var-GS18537-1100-36-ASM (hom)
var-GS18526-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM (hom)
var-GS19670-1100-36-ASM (hom)
var-GS18508-1100-36-ASM
var-GS19026-1100-36-ASM (hom)
var-GS20509-1100-36-ASM (hom)
var-GS18940-1100-36-ASM
var-GS18517-1100-36-ASM
HPVC1 F114Cinsufficiently evaluated not reviewed, f=0.027unknown var-GS12004-1100-36-ASM
var-GS18555-1100-36-ASM
HPVC1 F118Sinsufficiently evaluated not reviewed, f=0.625unknown hu3215A7 build 36 substitution variants
var-GS19020-1100-36-ASM (hom)
var-GS19700-1100-36-ASM (hom)
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-ASM (hom)
var-GS18558-1100-36-ASM
var-GS19735-1100-36-ASM (hom)
var-GS19703-1100-36-ASM
hu232307 build 36 substitution variants
var-GS19701-1100-36-ASM (hom)
var-GS21767-1100-36-ASM
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
var-GS18537-1100-36-ASM (hom)
var-GS19240-1100-36-ASM (hom)
var-GS18526-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM (hom)
var-GS19670-1100-36-ASM (hom)
var-GS06994-1100-36-ASM
var-GS19026-1100-36-ASM (hom)
var-GS20509-1100-36-ASM (hom)
var-GS18940-1100-36-ASM
var-GS18517-1100-36-ASM
HPVC1 P154Sinsufficiently evaluated not reviewed, f=0.016unknown var-GS19025-1100-36-ASM
var-GS19834-1100-36-ASM
HPX A7Tinsufficiently evaluated not reviewed, f=0.016unknown

(549 web hits)

var-GS19704-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
var-GS19238-1100-36-ASM
var-GS18517-1100-36-ASM
HPX T40Ainsufficiently evaluated none, f=0.016unknown

(4 web hits)

var-GS19701-1100-36-ASM
var-GS19704-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
var-GS19238-1100-36-ASM
var-GS18517-1100-36-ASM
HPX D52Ninsufficiently evaluated noneunknown

(15 web hits)

HPX R83Winsufficiently evaluated none, f=0.017unknown var-GS18504-1100-36-ASM
var-GS19129-1100-36-ASM
HPX Y327Hinsufficiently evaluated not reviewed, f=0.000unknown var-GS18502-1100-36-ASM
HPX R371Winsufficiently evaluated not reviewed, f=0.005unknown
HPX V439Linsufficiently evaluated not reviewedunknown
Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17
Total results: 162

Gene search

"GENE" or "GENE A123C":

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