GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
HSPG2 D68Einsufficiently evaluated not reviewed, f=0.001unknown var-GS18947-1100-36-ASM
HSPG2 T361Ninsufficiently evaluated none, f=0.005unknown
HSPG2 R420Qinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_G03 from PGP sample 92527586
HSPG2 H509Yinsufficiently evaluated not reviewed, f=0.001unknown hu232307 build 36 substitution variants
HSPG2 M638Vinsufficiently evaluated none, f=0.974unknown

(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)
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)
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
var-GS19017-1100-36-ASM
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 (hom)
var-GS19670-1100-36-ASM (hom)
CGI sample GS00253-DNA_A02_200_37 (hom)
var-GS06994-1100-36-ASM (hom)
CGI sample GS00253-DNA_H01_200_37 (hom)
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
CGI sample GS01175-DNA_F02 from PGP sample 95788191 (hom)
CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom)
CGI sample GS01173-DNA_B02 from PGP sample 94378523 (hom)
CGI sample GS01173-DNA_A07 from PGP sample 96240009 (hom)
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
var-GS18508-1100-36-ASM (hom)
var-GS19669-1100-36-ASM (hom)
var-GS19026-1100-36-ASM (hom)
var-GS20509-1100-36-ASM (hom)
var-GS18940-1100-36-ASM (hom)
var-GS06985-1100-36-ASM (hom)
var-GS18956-1100-36-ASM (hom)
var-GS18517-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
HSPG2 Q653Hinsufficiently evaluated not reviewed, f=0.003unknown var-GS19703-1100-36-ASM
HSPG2 A680Tinsufficiently evaluated not reviewed, f=0.001unknown
HSPG2 V692Minsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_D01 from PGP sample 31286272
HSPG2 A711Tinsufficiently evaluated not reviewedunknown
HSPG2 N765Sinsufficiently evaluated none, f=0.933unknown

(12 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 (hom)
hu34D5B9 exome (hom)
hu3215A7 build 36 substitution variants (hom)
var-GS18942-1100-36-ASM (hom)
CGI sample GS01669-DNA_C05 from PGP sample 42408046 (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 (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
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 (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
var-GS18502-1100-36-ASM
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
CGI sample GS00253-DNA_D01_200_37 (hom)
var-GS19240-1100-36-ASM
CGI sample GS00253-DNA_C01_200_37 (hom)
hu728FFF build 36 substitution variants (hom)
var-GS18947-1100-36-ASM (hom)
var-GS18505-1100-36-ASM (hom)
var-GS19238-1100-36-ASM (hom)
var-GS19670-1100-36-ASM (hom)
CGI sample GS00253-DNA_A02_200_37 (hom)
var-GS06994-1100-36-ASM (hom)
CGI sample GS00253-DNA_H01_200_37 (hom)
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
CGI sample GS01175-DNA_F02 from PGP sample 95788191 (hom)
CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom)
CGI sample GS01173-DNA_B02 from PGP sample 94378523 (hom)
CGI sample GS01173-DNA_A07 from PGP sample 96240009 (hom)
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
var-GS18508-1100-36-ASM (hom)
var-GS19669-1100-36-ASM (hom)
var-GS19026-1100-36-ASM (hom)
var-GS20509-1100-36-ASM (hom)
var-GS18940-1100-36-ASM (hom)
var-GS06985-1100-36-ASM (hom)
var-GS18956-1100-36-ASM (hom)
var-GS18517-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
HSPG2 N786Sinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_H05 from PGP sample 10971581
HSPG2 N957Hinsufficiently evaluated not reviewed, f=0.020unknown var-GS19026-1100-36-ASM
HSPG2 P1019Linsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_F02 from PGP sample 40767107
HSPG2 R1090Qinsufficiently evaluated none, f=0.005unknown
HSPG2 A1098Tinsufficiently evaluated not reviewed, f=0.008unknown var-GS19025-1100-36-ASM
HSPG2 E1113Kinsufficiently evaluated not reviewedunknown
HSPG2 R1186Qinsufficiently evaluated unknown, f=0.080unknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
hu3215A7 build 36 substitution variants
var-GS19701-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19648-1100-36-ASM
CGI sample GS01669-DNA_H05 from PGP sample 10971581
hu728FFF build 36 substitution variants
var-GS19238-1100-36-ASM
var-GS06994-1100-36-ASM
var-GS18508-1100-36-ASM
HSPG2 G1230Rinsufficiently evaluated not reviewedunknown
HSPG2 G1230Sinsufficiently evaluated not reviewed, f=0.079unknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
hu3215A7 build 36 substitution variants
var-GS19701-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19648-1100-36-ASM
CGI sample GS01669-DNA_H05 from PGP sample 10971581
var-GS19238-1100-36-ASM
var-GS06994-1100-36-ASM
var-GS18508-1100-36-ASM
HSPG2 A1236Ginsufficiently evaluated not reviewedunknown
HSPG2 V1283Iinsufficiently evaluated not reviewed, f=0.004unknown var-GS19703-1100-36-ASM
HSPG2 Q1294KVinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
HSPG2 Q1294Kinsufficiently evaluated not reviewed, f=0.048unknown var-GS18942-1100-36-ASM
CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS01173-DNA_G02 from PGP sample 67180598
var-GS07357-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS18555-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034
var-GS18526-1100-36-ASM
CGI sample GS01173-DNA_B07 from PGP sample 61499538
HSPG2 E1378Kinsufficiently evaluated not reviewed, f=0.005unknown var-GS19026-1100-36-ASM
HSPG2 A1503Vinsufficiently evaluated none, f=0.694unknown

(9 web hits)

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
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 (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)
CGI sample GS01173-DNA_F02 from PGP sample 70008981
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 GS000006909 (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370
CGI sample GS000005532
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom)
CGI sample GS00253-DNA_G01_200_37
var-GS19701-1100-36-ASM (hom)
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS21767-1100-36-ASM (hom)
var-GS19704-1100-36-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
var-GS18502-1100-36-ASM (hom)
var-GS19649-1100-36-ASM (hom)
var-GS18555-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
var-GS19648-1100-36-ASM (hom)
var-GS18537-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_B02_200_37 (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom)
CGI sample GS01173-DNA_F06 from PGP sample 64191565 (hom)
CGI sample GS01175-DNA_D05 from PGP sample 1205491
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
var-GS18526-1100-36-ASM (hom)
hu728FFF build 36 substitution variants (hom)
var-GS18947-1100-36-ASM (hom)
var-GS18505-1100-36-ASM (hom)
var-GS19238-1100-36-ASM (hom)
var-GS19670-1100-36-ASM (hom)
var-GS06994-1100-36-ASM (hom)
CGI sample GS00253-DNA_H01_200_37
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 (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
var-GS18508-1100-36-ASM (hom)
var-GS19669-1100-36-ASM
var-GS19026-1100-36-ASM
var-GS20509-1100-36-ASM (hom)
var-GS18940-1100-36-ASM (hom)
var-GS06985-1100-36-ASM (hom)
var-GS18956-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
HSPG2 C1532Yinsufficiently evaluated pathogenicunknown

(10 web hits)

HSPG2 R1626Hinsufficiently evaluated not reviewed, f=0.004unknown var-GS19026-1100-36-ASM
HSPG2 R1919Cinsufficiently evaluated not reviewed, f=0.006unknown CGI sample GS00253-DNA_C01_200_37
HSPG2 R1919Hinsufficiently evaluated not reviewed, f=0.004unknown var-GS19704-1100-36-ASM
HSPG2 V1967Iinsufficiently evaluated none, f=0.041unknown CGI sample GS01173-DNA_G02 from PGP sample 67180598
var-GS10851-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01175-DNA_D05 from PGP sample 1205491
var-GS06985-1100-36-ASM
HSPG2 T2005Pinsufficiently evaluated not reviewedunknown CGI sample GS000006909
HSPG2 D2006Ainsufficiently evaluated not reviewedunknown CGI sample GS000006909
HSPG2 T2016Minsufficiently evaluated not reviewed, f=0.010unknown var-GS19020-1100-36-ASM
HSPG2 I2038Minsufficiently evaluated not reviewed, f=0.016unknown CGI sample GS000006909
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS01173-DNA_A07 from PGP sample 96240009
HSPG2 G2099Sinsufficiently evaluated not reviewed, f=0.001unknown
HSPG2 G2225Sinsufficiently evaluated none, f=0.042unknown CGI sample GS01173-DNA_G02 from PGP sample 67180598
var-GS10851-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01175-DNA_D05 from PGP sample 1205491
HSPG2 A2274Tinsufficiently evaluated not reviewed, f=0.000unknown var-GS19649-1100-36-ASM
HSPG2 G2283Dinsufficiently evaluated not reviewedunknown
HSPG2 V2291Iinsufficiently evaluated not reviewed, f=0.008unknown var-GS19703-1100-36-ASM
HSPG2 R2312Qinsufficiently evaluated not reviewed, f=0.000unknown var-GS19834-1100-36-ASM
HSPG2 T2322Minsufficiently evaluated not reviewed, f=0.008unknown var-GS18940-1100-36-ASM
HSPG2 R2504Hinsufficiently evaluated not reviewed, f=0.003unknown
HSPG2 G2572Vinsufficiently evaluated not reviewedunknown CGI sample GS00253-DNA_F01_200_37
HSPG2 G2800Dinsufficiently evaluated not reviewed, f=0.008unknown var-GS18940-1100-36-ASM
HSPG2 R2870Qinsufficiently evaluated not reviewed, f=0.001unknown
HSPG2 G2950Rinsufficiently evaluated not reviewed, f=0.014unknown CGI sample GS01173-DNA_A07 from PGP sample 96240009
HSPG2 R2977Winsufficiently evaluated not reviewed, f=0.007unknown CGI sample GS01669-DNA_B05 from PGP sample 86486261
var-GS19670-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
HSPG2 L2980Hinsufficiently evaluated none, f=0.041unknown CGI sample GS01173-DNA_G02 from PGP sample 67180598
var-GS10851-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01175-DNA_D05 from PGP sample 1205491
HSPG2 S2995Rinsufficiently evaluated not reviewedunknown
HSPG2 S2995Cinsufficiently evaluated not reviewedunknown
HSPG2 S2995Ginsufficiently evaluated none, f=0.115unknown

(1 web hit)

CGI sample GS01669-DNA_C07 from PGP sample 74521372
var-GS19025-1100-36-ASM
hu3215A7 build 36 substitution variants
var-GS19700-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
var-GS19704-1100-36-ASM
var-GS10851-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS19648-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01175-DNA_D05 from PGP sample 1205491
hu728FFF build 36 substitution variants
var-GS06994-1100-36-ASM
var-GS18517-1100-36-ASM (hom)
HSPG2 R3082Winsufficiently evaluated none, f=0.008unknown var-GS18517-1100-36-ASM
HSPG2 A3168Tinsufficiently evaluated none, f=0.106unknown

(2 web hits)

CGI sample GS01669-DNA_C07 from PGP sample 74521372
var-GS19025-1100-36-ASM
hu3215A7 build 36 substitution variants
var-GS19700-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
var-GS19704-1100-36-ASM
var-GS10851-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS19648-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01175-DNA_D05 from PGP sample 1205491
hu728FFF build 36 substitution variants
var-GS19238-1100-36-ASM
var-GS06994-1100-36-ASM
var-GS18517-1100-36-ASM
HSPG2 A3240Vinsufficiently evaluated none, f=0.010unknown var-GS19025-1100-36-ASM
var-GS18517-1100-36-ASM
HSPG2 H3256Yinsufficiently evaluated none, f=0.125unknown

(1 web hit)

hu34D5B9 exome
var-GS18942-1100-36-ASM
var-GS19700-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM
CGI sample GS000005532
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM
var-GS10851-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS00253-DNA_F01_200_37
CGI sample GS01175-DNA_D01 from PGP sample 31286272
var-GS18947-1100-36-ASM (hom)
var-GS19670-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01669-DNA_A04 from PGP sample 08188426
var-GS19669-1100-36-ASM
var-GS18940-1100-36-ASM
var-GS18956-1100-36-ASM
HSPG2 I3264Vinsufficiently evaluated not reviewed, f=0.010unknown CGI sample GS000006909
CGI sample GS01669-DNA_B03 from PGP sample 14427241
HSPG2 A3301Vinsufficiently evaluated not reviewed, f=0.008unknown var-GS20502-1100-36-ASM
HSPG2 L3349Vinsufficiently evaluated none, f=0.007unknown var-GS19704-1100-36-ASM
var-GS18517-1100-36-ASM
HSPG2 H3420Qinsufficiently evaluated not reviewedunknown
HSPG2 R3530Winsufficiently evaluated not reviewed, f=0.008unknown var-GS18942-1100-36-ASM
HSPG2 R3632Qinsufficiently evaluated none, f=0.112unknown

(2 web hits)

CGI sample GS01669-DNA_C07 from PGP sample 74521372
var-GS19025-1100-36-ASM
hu3215A7 build 36 substitution variants
var-GS19700-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
var-GS19704-1100-36-ASM
var-GS10851-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS19648-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01175-DNA_D05 from PGP sample 1205491
hu728FFF build 36 substitution variants
var-GS19238-1100-36-ASM
var-GS06994-1100-36-ASM
var-GS18517-1100-36-ASM
HSPG2 R3632Linsufficiently evaluated not reviewedunknown
HSPG2 R3632Pinsufficiently evaluated not reviewedunknown
HSPG2 V3640Iinsufficiently evaluated none, f=0.038unknown CGI sample GS01173-DNA_C02 from PGP sample 10366372 (hom)
var-GS12004-1100-36-ASM
var-GS19649-1100-36-ASM
CGI sample GS01173-DNA_F06 from PGP sample 64191565
var-GS20502-1100-36-ASM
CGI sample GS00253-DNA_C01_200_37
var-GS19669-1100-36-ASM
HSPG2 R3708Qinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_B03 from PGP sample 14427241
HSPG2 R3719Qinsufficiently evaluated none, f=0.008unknown var-GS18555-1100-36-ASM
HSPG2 Y3867Xinsufficiently evaluated not reviewedunknown
HSPG2 R3906Qinsufficiently evaluated not reviewed, f=0.002unknown var-GS19701-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS18508-1100-36-ASM
HSPG2 L3944Finsufficiently evaluated not reviewedunknown
HSPG2 S3969Ninsufficiently evaluated not reviewed, f=0.008unknown var-GS18504-1100-36-ASM
HSPG2 S3973Ginsufficiently evaluated not reviewedunknown
HSPG2 A4071Vinsufficiently evaluated not reviewed, f=0.023unknown CGI sample GS00253-DNA_E01_200_37
HSPG2 R4074Cinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
HSPG2 D4104Einsufficiently evaluated not reviewedunknown
HSPG2 A4328Tinsufficiently evaluated not reviewed, f=0.003unknown var-GS07357-1100-36-ASM
HSPG2 S4331Ninsufficiently evaluated none, f=0.147unknown

(4 web hits)

hu34D5B9 exome
var-GS18942-1100-36-ASM
var-GS19700-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM
CGI sample GS000005532
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS10851-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS00253-DNA_F01_200_37
CGI sample GS01175-DNA_D01 from PGP sample 31286272
var-GS18947-1100-36-ASM (hom)
var-GS19670-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01669-DNA_A04 from PGP sample 08188426
var-GS19669-1100-36-ASM
var-GS18940-1100-36-ASM
var-GS18956-1100-36-ASM
var-GS18517-1100-36-ASM
HSPG2 V4332Iinsufficiently evaluated none, f=0.053unknown CGI sample GS00253-DNA_E01_200_37
CGI sample GS01669-DNA_F02 from PGP sample 40767107
var-GS07357-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228
CGI sample GS00253-DNA_A01_200_37 (hom)
var-GS19834-1100-36-ASM
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS01173-DNA_B07 from PGP sample 61499538
HSPG2 A4382Dinsufficiently evaluated not reviewed, f=0.001unknown var-GS19239-1100-36-ASM
var-GS19240-1100-36-ASM
Page: 1 2 3 4 5 6 7 8
Total results: 78

Gene search

"GENE" or "GENE A123C":

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