GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
ABCA1 P85Linsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_F02 from PGP sample 40767107
ABCA1 R219Kinsufficiently evaluated pharmacogenetic, f=0.393unknown

(730 web hits)

CGI sample GS00253-DNA_E01_200_37 (hom)
var-GS19025-1100-36-ASM
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)
var-GS18942-1100-36-ASM
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS19700-1100-36-ASM (hom)
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS19735-1100-36-ASM
CGI sample GS000006909
var-GS07357-1100-36-ASM
var-GS19703-1100-36-ASM (hom)
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS00253-DNA_G01_200_37
var-GS19701-1100-36-ASM (hom)
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS21767-1100-36-ASM
var-GS19704-1100-36-ASM (hom)
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19239-1100-36-ASM (hom)
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
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 (hom)
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
var-GS19129-1100-36-ASM (hom)
var-GS19240-1100-36-ASM (hom)
hu728FFF build 36 substitution variants
var-GS18947-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS19670-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
var-GS06994-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
var-GS19026-1100-36-ASM
var-GS18956-1100-36-ASM
var-GS18517-1100-36-ASM (hom)
ABCA1 R230Cinsufficiently evaluated not reviewed, f=0.000unknown var-GS19670-1100-36-ASM
ABCA1 V380Iinsufficiently evaluated not reviewedunknown
ABCA1 V399Ainsufficiently evaluated none, f=0.004unknown

(11 web hits)

var-GS12004-1100-36-ASM
CGI sample GS00253-DNA_F01_200_37
ABCA1 K422Shiftinsufficiently evaluated not reviewed, f=0.008unknown var-GS18504-1100-36-ASM
ABCA1 R443Kinsufficiently evaluated not reviewed, f=0.008unknown var-GS18526-1100-36-ASM
ABCA1 W530Sinsufficiently evaluated pathogenicunknown

(7 web hits)

ABCA1 Q537Rinsufficiently evaluated pathogenicunknown

(5 web hits)

ABCA1 Y573Xinsufficiently evaluated pathogenicunknown

(1 web hit)

ABCA1 V771Minsufficiently evaluated none, f=0.052unknown

(171 web hits)

var-GS19735-1100-36-ASM
var-GS19703-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS18555-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS18517-1100-36-ASM
ABCA1 V825Iinsufficiently evaluated none, f=0.048unknown

(111 web hits)

PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS18558-1100-36-ASM
CGI sample GS000005532 (hom)
var-GS12004-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424
var-GS18537-1100-36-ASM
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS01175-DNA_B01 from PGP sample 86206034
var-GS18526-1100-36-ASM (hom)
CGI sample GS01669-DNA_A04 from PGP sample 08188426
var-GS18940-1100-36-ASM
ABCA1 E868Kinsufficiently evaluated not reviewed, f=0.005unknown var-GS18502-1100-36-ASM
ABCA1 N875Sinsufficiently evaluated pathogenicunknown

(8 web hits)

ABCA1 A877Vinsufficiently evaluated pathogenicunknown

(5 web hits)

ABCA1 I883Minsufficiently evaluated none, f=0.250unknown

(149 web hits)

CGI sample GS00253-DNA_E01_200_37
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS18942-1100-36-ASM
var-GS19020-1100-36-ASM
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS18558-1100-36-ASM
CGI sample GS000005532 (hom)
var-GS19703-1100-36-ASM
var-GS12004-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
var-GS21767-1100-36-ASM
var-GS19704-1100-36-ASM (hom)
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19649-1100-36-ASM
var-GS19648-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
var-GS19129-1100-36-ASM (hom)
var-GS19240-1100-36-ASM (hom)
var-GS18526-1100-36-ASM (hom)
var-GS18947-1100-36-ASM
var-GS19238-1100-36-ASM (hom)
var-GS19670-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
var-GS19669-1100-36-ASM (hom)
var-GS19026-1100-36-ASM
var-GS18940-1100-36-ASM
var-GS18517-1100-36-ASM
ABCA1 N935Hinsufficiently evaluated pathogenicunknown

(4 web hits)

ABCA1 N935Sinsufficiently evaluated pathogenicunknown

(19 web hits)

ABCA1 D1099Yinsufficiently evaluated pathogenicunknown

(11 web hits)

ABCA1 E1172Dinsufficiently evaluated none, f=0.076unknown

(52 web hits)

var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM (hom)
var-GS21767-1100-36-ASM
var-GS19129-1100-36-ASM
var-GS19240-1100-36-ASM
CGI sample GS00253-DNA_C01_200_37
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS18517-1100-36-ASM
ABCA1 N1185Sinsufficiently evaluated not reviewed, f=0.000unknown CGI sample GS00253-DNA_B01_200_37
ABCA1 D1229Ninsufficiently evaluated pathogenicunknown

(3 web hits)

ABCA1 S1255Rinsufficiently evaluated none, f=0.001unknown
ABCA1 G1310Winsufficiently evaluated not reviewedunknown
ABCA1 L1408Finsufficiently evaluated not reviewed, f=0.008unknown var-GS19735-1100-36-ASM
ABCA1 C1417Rinsufficiently evaluated pathogenicunknown

(5 web hits)

ABCA1 S1446Linsufficiently evaluated pathogenicunknown

(2 web hits)

ABCA1 K1587Rinsufficiently evaluated none, f=0.582unknown

(6 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)
CGI sample GS01669-DNA_F02 from PGP sample 40767107 (hom)
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)
var-GS18942-1100-36-ASM
CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom)
var-GS18558-1100-36-ASM (hom)
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
CGI sample GS000005532 (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
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
var-GS19834-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS19649-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
var-GS19648-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom)
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01669-DNA_H05 from PGP sample 10971581 (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 (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
CGI sample GS00253-DNA_D01_200_37 (hom)
CGI sample GS00253-DNA_C01_200_37
hu728FFF build 36 substitution variants
var-GS18947-1100-36-ASM (hom)
var-GS19238-1100-36-ASM
var-GS19670-1100-36-ASM (hom)
CGI sample GS00253-DNA_A02_200_37
var-GS06994-1100-36-ASM (hom)
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom)
CGI sample GS01173-DNA_B02 from PGP sample 94378523 (hom)
CGI sample GS01173-DNA_A07 from PGP sample 96240009 (hom)
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
var-GS18508-1100-36-ASM
var-GS19669-1100-36-ASM
var-GS20509-1100-36-ASM (hom)
var-GS18940-1100-36-ASM (hom)
var-GS06985-1100-36-ASM (hom)
var-GS18517-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
ABCA1 L1648Vinsufficiently evaluated not reviewed, f=0.043unknown CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS000006909
CGI sample GS01173-DNA_H06 from PGP sample 91708424
var-GS19239-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
var-GS19670-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
CGI sample GS01669-DNA_A04 from PGP sample 08188426
var-GS18940-1100-36-ASM
ABCA1 R1680Winsufficiently evaluated pathogenicunknown

(21 web hits)

ABCA1 F2009Sinsufficiently evaluated pathogenicunknown

(9 web hits)

ABCA1 R2021Winsufficiently evaluated pathogenicunknown

(2 web hits)

ABCA1 A2028Vinsufficiently evaluated not reviewed, f=0.008unknown var-GS19669-1100-36-ASM
ABCA10 L85Vinsufficiently evaluated not reviewed, f=0.013unknown var-GS19735-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS19026-1100-36-ASM
ABCA10 P203Sinsufficiently evaluated none, f=0.653unknown CGI sample GS00253-DNA_E01_200_37
CGI sample GS01669-DNA_C07 from PGP sample 74521372 (hom)
CGI sample GS01175-DNA_G03 from PGP sample 92527586 (hom)
var-GS19025-1100-36-ASM
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) (hom)
var-GS18942-1100-36-ASM
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS19020-1100-36-ASM
CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom)
var-GS19700-1100-36-ASM
var-GS18504-1100-36-ASM (hom)
var-GS18558-1100-36-ASM
var-GS19735-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
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 (hom)
var-GS12004-1100-36-ASM
CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom)
CGI sample GS00253-DNA_G01_200_37 (hom)
var-GS19701-1100-36-ASM
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
var-GS18502-1100-36-ASM
var-GS19649-1100-36-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 GS00253-DNA_B01_200_37 (hom)
CGI sample GS01173-DNA_F06 from PGP sample 64191565 (hom)
CGI sample GS01175-DNA_D05 from PGP sample 1205491
var-GS20502-1100-36-ASM (hom)
CGI sample GS00253-DNA_D01_200_37
var-GS19240-1100-36-ASM (hom)
hu728FFF build 36 substitution variants
var-GS19238-1100-36-ASM (hom)
var-GS19670-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
var-GS06994-1100-36-ASM (hom)
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom)
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01173-DNA_A07 from PGP sample 96240009
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS18508-1100-36-ASM (hom)
var-GS19669-1100-36-ASM
var-GS19026-1100-36-ASM
var-GS20509-1100-36-ASM (hom)
var-GS06985-1100-36-ASM
var-GS18956-1100-36-ASM
var-GS18517-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
ABCA10 Y261Xinsufficiently evaluated none, f=0.066unknown

(2 web hits)

var-GS19020-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS18508-1100-36-ASM (hom)
var-GS19026-1100-36-ASM
ABCA10 P277Tinsufficiently evaluated none, f=0.007unknown var-GS18517-1100-36-ASM
ABCA10 I287Vinsufficiently evaluated none, f=0.297unknown CGI sample GS01669-DNA_C07 from PGP sample 74521372 (hom)
CGI sample GS01175-DNA_G03 from PGP sample 92527586 (hom)
CGI sample GS01175-DNA_H01 from PGP sample 94797469 (hom)
var-GS18942-1100-36-ASM
CGI sample GS01669-DNA_C05 from PGP sample 42408046
hu34D5B9 exome
var-GS18558-1100-36-ASM
var-GS19735-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
var-GS07357-1100-36-ASM
CGI sample GS000005532
var-GS12004-1100-36-ASM
CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom)
CGI sample GS00253-DNA_G01_200_37
var-GS19701-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS10851-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01669-DNA_B05 from PGP sample 86486261
var-GS19648-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
CGI sample GS00253-DNA_B01_200_37 (hom)
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS00253-DNA_F01_200_37
var-GS20502-1100-36-ASM (hom)
hu728FFF build 36 substitution variants (hom)
var-GS19670-1100-36-ASM
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
var-GS18956-1100-36-ASM
ABCA10 R332Ginsufficiently evaluated not reviewed, f=0.008unknown var-GS20502-1100-36-ASM
ABCA10 H372Pinsufficiently evaluated not reviewed, f=0.018unknown var-GS19735-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS19026-1100-36-ASM
ABCA10 S444Shiftinsufficiently evaluated not reviewed, f=0.125unknown var-GS19025-1100-36-ASM
var-GS19700-1100-36-ASM
var-GS07357-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS18555-1100-36-ASM
var-GS19648-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01175-DNA_D01 from PGP sample 31286272
var-GS19129-1100-36-ASM
CGI sample GS00253-DNA_D01_200_37
CGI sample GS00253-DNA_C01_200_37
ABCA10 S450Linsufficiently evaluated not reviewedunknown
ABCA10 I453Shiftinsufficiently evaluated not reviewed, f=0.119unknown var-GS19020-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS19834-1100-36-ASM (hom)
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19240-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS18508-1100-36-ASM (hom)
var-GS19026-1100-36-ASM
ABCA10 R577Xinsufficiently evaluated not reviewed, f=0.016unknown var-GS19704-1100-36-ASM
var-GS19834-1100-36-ASM
ABCA10 S693Ainsufficiently evaluated not reviewedunknown PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
ABCA10 Q717Shiftinsufficiently evaluated not reviewed, f=0.008unknown var-GS18555-1100-36-ASM
ABCA10 C885Rinsufficiently evaluated not reviewedunknown
ABCA10 M916Tinsufficiently evaluated none, f=0.759unknown var-GS19025-1100-36-ASM (hom)
CGI sample GS01175-DNA_H01 from PGP sample 94797469 (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
var-GS19020-1100-36-ASM
hu34D5B9 exome
var-GS19700-1100-36-ASM (hom)
var-GS18504-1100-36-ASM (hom)
var-GS18558-1100-36-ASM
var-GS19735-1100-36-ASM (hom)
hu232307 build 36 substitution variants (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom)
CGI sample GS00253-DNA_G01_200_37 (hom)
var-GS21767-1100-36-ASM
var-GS10851-1100-36-ASM
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19834-1100-36-ASM (hom)
var-GS19239-1100-36-ASM (hom)
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 (hom)
var-GS20502-1100-36-ASM (hom)
var-GS19129-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS19238-1100-36-ASM (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
var-GS19669-1100-36-ASM
var-GS19026-1100-36-ASM (hom)
var-GS20509-1100-36-ASM (hom)
ABCA10 Q1094Einsufficiently evaluated not reviewed, f=0.003unknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
hu232307 build 36 substitution variants
ABCA10 T1186Sinsufficiently evaluated not reviewed, f=0.012unknown var-GS18505-1100-36-ASM
ABCA10 R1216Iinsufficiently evaluated none, f=0.005unknown
ABCA10 L1318Pinsufficiently evaluated not reviewedunknown
ABCA10 R1322Qinsufficiently evaluated not reviewed, f=0.014unknown CGI sample GS00253-DNA_E01_200_37
var-GS10851-1100-36-ASM
CGI sample GS01175-DNA_D05 from PGP sample 1205491
ABCA10 R1322Xinsufficiently evaluated none, f=0.063unknown var-GS19025-1100-36-ASM
var-GS19700-1100-36-ASM
var-GS07357-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS18555-1100-36-ASM
var-GS19648-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01175-DNA_D01 from PGP sample 31286272
var-GS19129-1100-36-ASM
CGI sample GS00253-DNA_D01_200_37
CGI sample GS00253-DNA_C01_200_37
ABCA10 R1485Winsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_F02 from PGP sample 95788191
ABCA10 Q1506Shiftinsufficiently evaluated not reviewed, f=0.103unknown var-GS19025-1100-36-ASM
var-GS07357-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS18555-1100-36-ASM
var-GS19648-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01175-DNA_D01 from PGP sample 31286272
var-GS19129-1100-36-ASM
CGI sample GS00253-DNA_D01_200_37
CGI sample GS00253-DNA_C01_200_37
ABCA11P GT73EAinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_B03 from PGP sample 14427241
ABCA11P G73Einsufficiently evaluated not reviewedunknown CGI sample GS00253-DNA_E01_200_37
CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01669-DNA_F02 from PGP sample 40767107
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS00253-DNA_G01_200_37
CGI sample GS01175-DNA_A04 from PGP sample 13272228
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom)
CGI sample GS00253-DNA_B02_200_37 (hom)
CGI sample GS00253-DNA_B01_200_37
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 (hom)
CGI sample GS00253-DNA_D01_200_37
CGI sample GS00253-DNA_C01_200_37
CGI sample GS00253-DNA_A02_200_37
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01173-DNA_B07 from PGP sample 61499538
CGI sample GS01175-DNA_D03 from PGP sample 27486199
ABCA11P P81Hinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS00253-DNA_B02_200_37 (hom)
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01173-DNA_B07 from PGP sample 61499538
ABCA11P E143Kinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_B03 from PGP sample 14427241
ABCA11P V173Linsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_F02 from PGP sample 40767107
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS00253-DNA_D01_200_37
CGI sample GS00253-DNA_C01_200_37
ABCA12 R44Qinsufficiently evaluated not reviewedunknown

(5 web hits)

ABCA12 S110Tinsufficiently evaluated not reviewedunknown
ABCA12 S141Tinsufficiently evaluated noneunknown
ABCA12 W199Cinsufficiently evaluated not reviewed, f=0.071unknown

(2 web hits)

hu3215A7 build 36 substitution variants
var-GS19703-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19240-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS18505-1100-36-ASM
var-GS18508-1100-36-ASM
ABCA12 V224Ainsufficiently evaluated noneunknown
ABCA12 E232Ginsufficiently evaluated not reviewedunknown

(5 web hits)

hu728FFF build 36 substitution variants
ABCA12 N237Hinsufficiently evaluated not reviewed, f=0.162unknown

(2 web hits)

var-GS19025-1100-36-ASM (hom)
hu3215A7 build 36 substitution variants
var-GS19020-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS19735-1100-36-ASM
var-GS19703-1100-36-ASM
var-GS21767-1100-36-ASM (hom)
var-GS19704-1100-36-ASM (hom)
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM (hom)
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
var-GS19129-1100-36-ASM (hom)
var-GS19240-1100-36-ASM (hom)
hu728FFF build 36 substitution variants
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM (hom)
var-GS19670-1100-36-ASM
var-GS18508-1100-36-ASM (hom)
var-GS19026-1100-36-ASM
ABCA12 Q274Rinsufficiently evaluated not reviewed, f=0.044unknown

(1 web hit)

hu3215A7 build 36 substitution variants
var-GS19834-1100-36-ASM
var-GS19017-1100-36-ASM
hu728FFF build 36 substitution variants
ABCA12 R287Guncertain benign, f=0.044undefined

(1 web hit)

hu3215A7 build 36 substitution variants
var-GS19834-1100-36-ASM
hu728FFF build 36 substitution variants
ABCA12 R313Qinsufficiently evaluated noneunknown

(2 web hits)

ABCA12 S325Finsufficiently evaluated not reviewed, f=0.008unknown var-GS18526-1100-36-ASM
ABCA12 S428Tinsufficiently evaluated not reviewed, f=0.000unknown
ABCA12 S459Tinsufficiently evaluated not reviewed, f=0.000unknown

(12 web hits)

CGI sample GS00253-DNA_A01_200_37
hu728FFF build 36 substitution variants (hom)
ABCA12 V542Ainsufficiently evaluated none, f=0.017unknown CGI sample GS000006909
var-GS19648-1100-36-ASM
ABCA12 E550Ginsufficiently evaluated not reviewed, f=0.046unknown

(2 web hits)

hu3215A7 build 36 substitution variants
var-GS19017-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS18505-1100-36-ASM (hom)
ABCA12 P589Tinsufficiently evaluated not reviewed, f=0.008unknown var-GS19735-1100-36-ASM
ABCA12 R631Qinsufficiently evaluated none, f=0.008unknown var-GS18558-1100-36-ASM
ABCA12 N678Sinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_F02 from PGP sample 95788191
ABCA12 S777Tinsufficiently evaluated not reviewed, f=0.998unknown

(8 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)
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) (hom)
var-GS18942-1100-36-ASM (hom)
CGI sample GS01669-DNA_C05 from PGP sample 42408046 (hom)
var-GS19020-1100-36-ASM (hom)
CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom)
var-GS19700-1100-36-ASM (hom)
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-ASM (hom)
var-GS18558-1100-36-ASM (hom)
var-GS19735-1100-36-ASM (hom)
CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
CGI sample GS000006909 (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom)
var-GS07357-1100-36-ASM (hom)
CGI sample GS000005532 (hom)
var-GS19703-1100-36-ASM (hom)
hu232307 build 36 substitution variants (hom)
var-GS12004-1100-36-ASM (hom)
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom)
CGI sample GS00253-DNA_G01_200_37 (hom)
var-GS19701-1100-36-ASM (hom)
CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)
var-GS21767-1100-36-ASM (hom)
var-GS19704-1100-36-ASM (hom)
var-GS10851-1100-36-ASM (hom)
CGI sample GS00253-DNA_A01_200_37 (hom)
CGI sample GS01173-DNA_D06 from PGP sample 69488604 (hom)
var-GS19834-1100-36-ASM (hom)
var-GS19239-1100-36-ASM (hom)
var-GS19017-1100-36-ASM (hom)
var-GS18502-1100-36-ASM (hom)
var-GS19649-1100-36-ASM (hom)
var-GS18555-1100-36-ASM (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
var-GS19648-1100-36-ASM (hom)
var-GS18537-1100-36-ASM (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom)
CGI sample GS00253-DNA_B02_200_37 (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom)
CGI sample GS00253-DNA_B01_200_37 (hom)
CGI sample GS01173-DNA_F06 from PGP sample 64191565 (hom)
CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom)
CGI sample GS00253-DNA_F01_200_37 (hom)
var-GS20502-1100-36-ASM (hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
var-GS19129-1100-36-ASM (hom)
CGI sample GS00253-DNA_D01_200_37 (hom)
var-GS19240-1100-36-ASM (hom)
CGI sample GS00253-DNA_C01_200_37 (hom)
var-GS18526-1100-36-ASM (hom)
hu728FFF build 36 substitution variants (hom)
var-GS18947-1100-36-ASM (hom)
var-GS18505-1100-36-ASM (hom)
var-GS19238-1100-36-ASM (hom)
var-GS19670-1100-36-ASM (hom)
CGI sample GS00253-DNA_A02_200_37 (hom)
var-GS06994-1100-36-ASM (hom)
CGI sample GS00253-DNA_H01_200_37 (hom)
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
CGI sample GS01175-DNA_F02 from PGP sample 95788191 (hom)
CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom)
CGI sample GS01173-DNA_B02 from PGP sample 94378523 (hom)
CGI sample GS01173-DNA_A07 from PGP sample 96240009 (hom)
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
var-GS18508-1100-36-ASM (hom)
var-GS19669-1100-36-ASM (hom)
var-GS19026-1100-36-ASM (hom)
var-GS20509-1100-36-ASM (hom)
var-GS18940-1100-36-ASM (hom)
var-GS06985-1100-36-ASM (hom)
var-GS18956-1100-36-ASM (hom)
var-GS18517-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
ABCA12 F830Vinsufficiently evaluated not reviewedunknown
ABCA12 L972Pinsufficiently evaluated not reviewedunknown

(3 web hits)

ABCA12 F1148Vinsufficiently evaluated not reviewedunknown
ABCA12 G1179Rinsufficiently evaluated pathogenicunknown

(1 web hit)

ABCA12 L1290Pinsufficiently evaluated not reviewedunknown
ABCA12 M1317Vinsufficiently evaluated not reviewed, f=0.000unknown var-GS19649-1100-36-ASM
ABCA12 N1380Sinsufficiently evaluated pathogenic, f=0.000unknown

(4 web hits)

ABCA12 G1381Einsufficiently evaluated pathogenicunknown

(4 web hits)

ABCA12 I1409Vinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_D01 from PGP sample 31286272
ABCA12 G1467Dinsufficiently evaluated not reviewedunknown
ABCA12 N1497Dinsufficiently evaluated not reviewedunknown
ABCA12 R1514Hinsufficiently evaluated pathogenicunknown

(2 web hits)

ABCA12 E1539Kinsufficiently evaluated pathogenicunknown

(4 web hits)

ABCA12 M1647Tinsufficiently evaluated noneunknown
ABCA12 G1651Sinsufficiently evaluated pathogenicunknown

(2 web hits)

ABCA12 I1675Minsufficiently evaluated noneunknown
ABCA12 G1785Dinsufficiently evaluated not reviewedunknown
ABCA12 N1815Dinsufficiently evaluated not reviewedunknown
ABCA12 M1965Tinsufficiently evaluated noneunknown
ABCA12 I1993Minsufficiently evaluated none, f=0.003unknown var-GS19239-1100-36-ASM
var-GS19240-1100-36-ASM
var-GS18508-1100-36-ASM
ABCA12 N2000Sinsufficiently evaluated noneunknown
ABCA12 D2047Ninsufficiently evaluated not reviewedunknown
ABCA12 R2203Xinsufficiently evaluated pathogenicunknown
ABCA12 I2307Vinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_B02 from PGP sample 94378523
ABCA12 N2318Sinsufficiently evaluated noneunknown
ABCA12 D2363Ninsufficiently evaluated pathogenicunknown
ABCA12 D2365Ninsufficiently evaluated not reviewed, f=0.019unknown CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS00253-DNA_C01_200_37
var-GS19670-1100-36-ASM
var-GS06994-1100-36-ASM
ABCA12 T2577Linsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_H05 from PGP sample 10971581
ABCA13 H3Qinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_H01 from PGP sample 94797469
CGI sample GS01173-DNA_F06 from PGP sample 64191565
ABCA13 W32Rinsufficiently evaluated not reviewedunknown CGI sample GS00253-DNA_H01_200_37
ABCA13 P108Qinsufficiently evaluated noneunknown

(3 web hits)

ABCA13 L370Qinsufficiently evaluated not reviewed, f=0.016unknown var-GS19129-1100-36-ASM
var-GS19026-1100-36-ASM
ABCA13 N429Sinsufficiently evaluated noneunknown
ABCA13 K442Einsufficiently evaluated not reviewedunknown CGI sample GS000006909
ABCA13 P451Linsufficiently evaluated not reviewed, f=0.375unknown var-GS18942-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS18558-1100-36-ASM
var-GS19735-1100-36-ASM
var-GS07357-1100-36-ASM
hu232307 build 36 substitution variants
var-GS21767-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS19649-1100-36-ASM (hom)
var-GS18555-1100-36-ASM
var-GS20502-1100-36-ASM
var-GS19129-1100-36-ASM
var-GS18526-1100-36-ASM
var-GS18947-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS19669-1100-36-ASM
var-GS20509-1100-36-ASM (hom)
var-GS18940-1100-36-ASM (hom)
var-GS18956-1100-36-ASM (hom)
ABCA13 R452Xinsufficiently evaluated noneunknown
ABCA13 R500Hinsufficiently evaluated not reviewed, f=0.234unknown var-GS19025-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS18558-1100-36-ASM
var-GS19703-1100-36-ASM (hom)
hu232307 build 36 substitution variants
var-GS19704-1100-36-ASM
var-GS10851-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS18555-1100-36-ASM
var-GS19648-1100-36-ASM
var-GS18537-1100-36-ASM
var-GS19129-1100-36-ASM
var-GS18526-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS18947-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS19670-1100-36-ASM
var-GS18508-1100-36-ASM
var-GS19026-1100-36-ASM (hom)
ABCA13 V501Iinsufficiently evaluated noneunknown hu728FFF build 36 substitution variants
ABCA13 P506Linsufficiently evaluated not reviewed, f=0.348unknown 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_H01 from PGP sample 94797469
hu34D5B9 exome (hom)
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS000006909 (hom)
CGI sample GS000005532 (hom)
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS01175-DNA_A04 from PGP sample 13272228
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS00253-DNA_F01_200_37 (hom)
CGI sample GS00253-DNA_D01_200_37
CGI sample GS00253-DNA_C01_200_37
CGI sample GS00253-DNA_A02_200_37
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
ABCA13 C529Yinsufficiently evaluated not reviewedunknown
ABCA13 R555Hinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS00253-DNA_G01_200_37
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS00253-DNA_B02_200_37
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
CGI sample GS00253-DNA_H01_200_37
ABCA13 E686Ainsufficiently evaluated not reviewed, f=0.016unknown var-GS18537-1100-36-ASM
var-GS18947-1100-36-ASM
ABCA13 I712Sinsufficiently evaluated not reviewed, f=0.198unknown var-GS18942-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS18558-1100-36-ASM
var-GS19703-1100-36-ASM
hu232307 build 36 substitution variants
var-GS10851-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18555-1100-36-ASM
var-GS19648-1100-36-ASM
var-GS18537-1100-36-ASM (hom)
var-GS19129-1100-36-ASM
var-GS18526-1100-36-ASM
var-GS18947-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS19670-1100-36-ASM
var-GS18508-1100-36-ASM
var-GS19026-1100-36-ASM
ABCA13 F713Vinsufficiently evaluated noneunknown

(5 web hits)

ABCA13 S725Ninsufficiently evaluated not reviewed, f=0.016unknown var-GS19700-1100-36-ASM
var-GS19701-1100-36-ASM
ABCA13 E741Ainsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_H06 from PGP sample 91708424
ABCA13 E744Kinsufficiently evaluated not reviewed, f=0.048unknown var-GS20502-1100-36-ASM
var-GS18956-1100-36-ASM
ABCA13 N761Dinsufficiently evaluated not reviewedunknown
ABCA13 I767Sinsufficiently evaluated not reviewed, f=0.149unknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
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_H06 from PGP sample 91708424
CGI sample GS00253-DNA_G01_200_37
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
CGI sample GS00253-DNA_H01_200_37
ABCA13 S780Ninsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_F02 from PGP sample 95788191
ABCA13 R792Iinsufficiently evaluated not reviewed, f=0.008unknown var-GS18526-1100-36-ASM
ABCA13 E799Kinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_C02 from PGP sample 10366372 (hom)
hu34D5B9 exome
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS00253-DNA_F01_200_37
CGI sample GS00253-DNA_C01_200_37
CGI sample GS01173-DNA_B07 from PGP sample 61499538
ABCA13 R847Iinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
ABCA13 A867Tinsufficiently evaluated not reviewed, f=0.008unknown var-GS18504-1100-36-ASM
ABCA13 K886Ninsufficiently evaluated not reviewedunknown
ABCA13 V886Linsufficiently evaluated not reviewed, f=0.031unknown
ABCA13 V941Linsufficiently evaluated not reviewed, f=0.047unknown CGI sample GS00253-DNA_E01_200_37
CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS000006909
CGI sample GS000005532
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS00253-DNA_A02_200_37
CGI sample GS01175-DNA_D03 from PGP sample 27486199
ABCA13 R1021Hinsufficiently evaluated not reviewed, f=0.016unknown var-GS19700-1100-36-ASM
var-GS19701-1100-36-ASM
ABCA13 N1026Shiftinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B01 from PGP sample 86206034
ABCA13 Q1031Einsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_G03 from PGP sample 92527586
ABCA13 S1074Linsufficiently evaluated not reviewed, f=0.008unknown var-GS18505-1100-36-ASM
ABCA13 R1076Hinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_F02 from PGP sample 95788191
ABCA13 C1083Yinsufficiently evaluated noneunknown hu728FFF build 36 substitution variants
ABCA13 Q1222Pinsufficiently evaluated noneunknown
ABCA13 I1243Minsufficiently evaluated noneunknown
ABCA13 I1243Vinsufficiently evaluated not reviewed, f=0.086unknown var-GS19025-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS19703-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19026-1100-36-ASM
ABCA13 I1276Minsufficiently evaluated not reviewed, f=0.016unknown var-GS19700-1100-36-ASM
var-GS19701-1100-36-ASM
ABCA13 I1298Vinsufficiently evaluated not reviewedunknown CGI sample GS00253-DNA_B02_200_37
ABCA13 I1331Minsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_F02 from PGP sample 95788191
ABCA13 H1339Linsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_A04 from PGP sample 08188426
ABCA13 H1361Rinsufficiently evaluated not reviewed, f=0.218unknown hu3215A7 build 36 substitution variants (hom)
var-GS19020-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS19735-1100-36-ASM
var-GS07357-1100-36-ASM
var-GS12004-1100-36-ASM (hom)
var-GS10851-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS20502-1100-36-ASM
var-GS19240-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS19670-1100-36-ASM
var-GS06994-1100-36-ASM (hom)
var-GS06985-1100-36-ASM (hom)
ABCA13 I1362Vinsufficiently evaluated noneunknown hu728FFF build 36 substitution variants
ABCA13 I1379Vinsufficiently evaluated not reviewed, f=0.016unknown var-GS19700-1100-36-ASM
var-GS19701-1100-36-ASM
ABCA13 H1416Rinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01669-DNA_F02 from PGP sample 40767107 (hom)
CGI sample GS01175-DNA_H01 from PGP sample 94797469
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 (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_G01_200_37
CGI sample GS00253-DNA_A01_200_37 (hom)
CGI sample GS01173-DNA_D06 from PGP sample 69488604 (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
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS00253-DNA_D01_200_37
CGI sample GS00253-DNA_C01_200_37
CGI sample GS00253-DNA_A02_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
ABCA13 I1434Vinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_F02 from PGP sample 95788191
ABCA13 S1444Ninsufficiently evaluated noneunknown
ABCA13 A1459Vinsufficiently evaluated not reviewed, f=0.008unknown var-GS18558-1100-36-ASM
ABCA13 F1485Linsufficiently evaluated not reviewed, f=0.078unknown var-GS19025-1100-36-ASM
var-GS19701-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS19648-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS18508-1100-36-ASM
var-GS19669-1100-36-ASM
var-GS18517-1100-36-ASM
ABCA13 T1508Iinsufficiently evaluated noneunknown
ABCA13 E1531Kinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_D06 from PGP sample 69488604
ABCA13 F1540Linsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_A04 from PGP sample 13272228
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01173-DNA_A07 from PGP sample 96240009
ABCA13 R1618Kinsufficiently evaluated noneunknown
ABCA13 G1791Vinsufficiently evaluated noneunknown hu728FFF build 36 substitution variants
ABCA13 H1817Pinsufficiently evaluated not reviewedunknown
ABCA13 I1834Kinsufficiently evaluated not reviewed, f=0.016unknown var-GS19700-1100-36-ASM
var-GS19701-1100-36-ASM
ABCA13 R1872Hinsufficiently evaluated not reviewedunknown
ABCA13 I1889Kinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_F02 from PGP sample 95788191
ABCA13 L1925Sinsufficiently evaluated not reviewed, f=0.008unknown var-GS19129-1100-36-ASM
ABCA13 N1978Dinsufficiently evaluated not reviewed, f=0.031unknown var-GS18942-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS18537-1100-36-ASM
ABCA13 N2033Dinsufficiently evaluated not reviewed, f=0.027unknown PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
ABCA13 E2062Shiftinsufficiently evaluated not reviewed, f=0.008unknown var-GS19669-1100-36-ASM
ABCA13 S2099Linsufficiently evaluated not reviewed, f=0.016unknown var-GS19700-1100-36-ASM
var-GS19701-1100-36-ASM
ABCA13 Q2100Xinsufficiently evaluated noneunknown

(6 web hits)

ABCA13 A2123Einsufficiently evaluated not reviewed, f=0.781unknown var-GS19025-1100-36-ASM (hom)
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 (hom)
var-GS18558-1100-36-ASM (hom)
var-GS19735-1100-36-ASM
var-GS07357-1100-36-ASM
var-GS19703-1100-36-ASM (hom)
hu232307 build 36 substitution variants (hom)
var-GS19701-1100-36-ASM (hom)
var-GS21767-1100-36-ASM (hom)
var-GS19704-1100-36-ASM (hom)
var-GS10851-1100-36-ASM
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 (hom)
var-GS19648-1100-36-ASM (hom)
var-GS18537-1100-36-ASM (hom)
var-GS20502-1100-36-ASM
var-GS19129-1100-36-ASM (hom)
var-GS19240-1100-36-ASM
var-GS18526-1100-36-ASM (hom)
hu728FFF build 36 substitution variants
var-GS18947-1100-36-ASM (hom)
var-GS18505-1100-36-ASM (hom)
var-GS19238-1100-36-ASM (hom)
var-GS19670-1100-36-ASM
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-GS18956-1100-36-ASM (hom)
var-GS18517-1100-36-ASM (hom)
ABCA13 Q2124Kinsufficiently evaluated noneunknown hu728FFF build 36 substitution variants
ABCA13 S2154Linsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_F02 from PGP sample 95788191
ABCA13 L2157Sinsufficiently evaluated not reviewed, f=0.016unknown var-GS19700-1100-36-ASM
var-GS19701-1100-36-ASM
ABCA13 A2168Pinsufficiently evaluated not reviewed, f=0.016unknown var-GS19735-1100-36-ASM
ABCA13 K2168Ninsufficiently evaluated noneunknown
ABCA13 A2178Einsufficiently evaluated not reviewed, f=0.695unknown 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
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome (hom)
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) (hom)
CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS000006909 (hom)
CGI sample GS000005532 (hom)
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_G01_200_37
CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom)
CGI sample GS00253-DNA_B02_200_37 (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS00253-DNA_F01_200_37 (hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS00253-DNA_D01_200_37
CGI sample GS00253-DNA_C01_200_37
CGI sample GS00253-DNA_A02_200_37
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_A07 from PGP sample 96240009
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
ABCA13 Q2210Rinsufficiently evaluated noneunknown

(3 web hits)

ABCA13 L2212Sinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_F02 from PGP sample 95788191
ABCA13 A2223Pinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_B02 from PGP sample 94378523
ABCA13 K2251Tinsufficiently evaluated not reviewed, f=0.083unknown var-GS19025-1100-36-ASM
var-GS19701-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS19648-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS18508-1100-36-ASM
var-GS19669-1100-36-ASM
var-GS18517-1100-36-ASM
ABCA13 K2252Qinsufficiently evaluated noneunknown
ABCA13 G2294Rinsufficiently evaluated not reviewed, f=0.016unknown var-GS19700-1100-36-ASM
var-GS19701-1100-36-ASM
ABCA13 M2294Iinsufficiently evaluated noneunknown
ABCA13 K2306Tinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_A04 from PGP sample 13272228
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01173-DNA_A07 from PGP sample 96240009
ABCA13 G2349Rinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_F02 from PGP sample 95788191
ABCA13 K2381Rinsufficiently evaluated not reviewed, f=0.016unknown var-GS19700-1100-36-ASM
var-GS19701-1100-36-ASM
ABCA13 R2382Ginsufficiently evaluated noneunknown

(6 web hits)

ABCA13 R2429Kinsufficiently evaluated not reviewed, f=0.008unknown
ABCA13 E2430Kinsufficiently evaluated not reviewedunknown
ABCA13 K2436Rinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_F02 from PGP sample 95788191
ABCA13 T2454Minsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
ABCA13 C2482Winsufficiently evaluated noneunknown

(6 web hits)

ABCA13 S2482Ainsufficiently evaluated not reviewed, f=0.016unknown var-GS19700-1100-36-ASM
var-GS19701-1100-36-ASM
ABCA13 R2484Kinsufficiently evaluated not reviewed, f=0.006unknown CGI sample GS000006909
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS00253-DNA_A02_200_37
ABCA13 I2524Kinsufficiently evaluated not reviewed, f=0.008unknown var-GS19020-1100-36-ASM
ABCA13 S2537Ainsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_F02 from PGP sample 95788191
ABCA13 I2553Vinsufficiently evaluated not reviewed, f=0.031unknown var-GS19735-1100-36-ASM
var-GS18555-1100-36-ASM
var-GS18526-1100-36-ASM
ABCA13 D2575Ginsufficiently evaluated not reviewed, f=0.008unknown var-GS19129-1100-36-ASM
ABCA13 EI2582Dinsufficiently evaluated not reviewed, f=0.008unknown
ABCA13 R2619Winsufficiently evaluated not reviewed, f=0.812unknown var-GS19025-1100-36-ASM
hu3215A7 build 36 substitution variants
var-GS18942-1100-36-ASM (hom)
var-GS19020-1100-36-ASM (hom)
var-GS19700-1100-36-ASM (hom)
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-ASM
var-GS18558-1100-36-ASM (hom)
var-GS19735-1100-36-ASM (hom)
var-GS07357-1100-36-ASM
var-GS19703-1100-36-ASM (hom)
hu232307 build 36 substitution variants (hom)
var-GS19701-1100-36-ASM (hom)
var-GS21767-1100-36-ASM (hom)
var-GS19704-1100-36-ASM (hom)
var-GS10851-1100-36-ASM
var-GS19834-1100-36-ASM (hom)
var-GS19239-1100-36-ASM (hom)
var-GS19017-1100-36-ASM (hom)
var-GS18502-1100-36-ASM (hom)
var-GS19649-1100-36-ASM (hom)
var-GS18555-1100-36-ASM (hom)
var-GS19648-1100-36-ASM (hom)
var-GS18537-1100-36-ASM (hom)
var-GS20502-1100-36-ASM
var-GS19129-1100-36-ASM (hom)
var-GS19240-1100-36-ASM (hom)
var-GS18526-1100-36-ASM (hom)
var-GS18947-1100-36-ASM (hom)
var-GS18505-1100-36-ASM (hom)
var-GS19238-1100-36-ASM (hom)
var-GS19670-1100-36-ASM
var-GS18508-1100-36-ASM (hom)
var-GS19669-1100-36-ASM (hom)
var-GS19026-1100-36-ASM
var-GS20509-1100-36-ASM (hom)
var-GS18940-1100-36-ASM (hom)
var-GS18956-1100-36-ASM (hom)
var-GS18517-1100-36-ASM (hom)
ABCA13 EI2637Dinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS00253-DNA_A01_200_37
ABCA13 I2668Minsufficiently evaluated not reviewed, f=0.031unknown var-GS18501-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS18505-1100-36-ASM
ABCA13 R2674Winsufficiently evaluated not reviewed, f=0.772unknown 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
CGI sample GS01669-DNA_F02 from PGP sample 40767107 (hom)
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome (hom)
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) (hom)
CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom)
CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
CGI sample GS000006909 (hom)
CGI sample GS000005532 (hom)
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_G01_200_37
CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom)
CGI sample GS00253-DNA_B02_200_37 (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom)
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS00253-DNA_F01_200_37 (hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS00253-DNA_D01_200_37
CGI sample GS00253-DNA_C01_200_37
CGI sample GS00253-DNA_A02_200_37
CGI sample GS00253-DNA_H01_200_37 (hom)
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom)
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01173-DNA_A07 from PGP sample 96240009
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
ABCA13 T2784Sinsufficiently evaluated not reviewed, f=0.008unknown var-GS19026-1100-36-ASM
ABCA13 K2816Tinsufficiently evaluated not reviewed, f=0.016unknown var-GS19700-1100-36-ASM
var-GS19701-1100-36-ASM
ABCA13 K2817Qinsufficiently evaluated noneunknown
ABCA13 K2871Tinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_F02 from PGP sample 95788191
ABCA13 V2878Minsufficiently evaluated not reviewed, f=0.008unknown var-GS18947-1100-36-ASM
ABCA13 V2933Minsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_A04 from PGP sample 08188426
ABCA13 S2991Linsufficiently evaluated noneunknown hu728FFF build 36 substitution variants
ABCA13 T3051Iinsufficiently evaluated noneunknown
ABCA13 A3087Vinsufficiently evaluated not reviewed, f=0.086unknown var-GS18501-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18505-1100-36-ASM (hom)
var-GS20509-1100-36-ASM
ABCA13 R3088Winsufficiently evaluated noneunknown

(7 web hits)

ABCA13 N3129Sinsufficiently evaluated not reviewed, f=0.047unknown var-GS19700-1100-36-ASM
var-GS19701-1100-36-ASM
ABCA13 T3130Ainsufficiently evaluated noneunknown
ABCA13 A3142Vinsufficiently evaluated not reviewed, f=0.114unknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome
CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS000006909
CGI sample GS000005532
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS01173-DNA_B07 from PGP sample 61499538
CGI sample GS01175-DNA_D03 from PGP sample 27486199
ABCA13 L3152Pinsufficiently evaluated not reviewed, f=0.016unknown var-GS19703-1100-36-ASM
var-GS19704-1100-36-ASM
ABCA13 N3184Sinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_F02 from PGP sample 95788191
ABCA13 S3236Ginsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_H06 from PGP sample 91708424
ABCA13 G3303Rinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_G02 from PGP sample 67180598
ABCA13 P3518Shiftinsufficiently evaluated not reviewed, f=0.008unknown var-GS19669-1100-36-ASM
ABCA13 H3554Pinsufficiently evaluated not reviewed, f=0.016unknown var-GS19735-1100-36-ASM
ABCA13 S3660Linsufficiently evaluated not reviewed, f=0.008unknown var-GS19025-1100-36-ASM
ABCA13 Y3796Finsufficiently evaluated not reviewed, f=0.119unknown var-GS19025-1100-36-ASM
var-GS19700-1100-36-ASM (hom)
var-GS18558-1100-36-ASM (hom)
var-GS07357-1100-36-ASM
var-GS19701-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS18508-1100-36-ASM
var-GS19669-1100-36-ASM
var-GS18940-1100-36-ASM
var-GS18956-1100-36-ASM
ABCA13 M3797Linsufficiently evaluated not reviewedunknown
ABCA13 T3834Minsufficiently evaluated not reviewed, f=0.031unknown var-GS19025-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS19703-1100-36-ASM
var-GS19238-1100-36-ASM
ABCA13 R3835Winsufficiently evaluated noneunknown
ABCA13 Y3851Finsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_H01 from PGP sample 94797469
CGI sample GS00253-DNA_F01_200_37
ABCA13 F3944Sinsufficiently evaluated noneunknown
ABCA13 L3983Pinsufficiently evaluated noneunknown hu728FFF build 36 substitution variants (hom)
ABCA13 R4015Cinsufficiently evaluated not reviewed, f=0.023unknown var-GS19020-1100-36-ASM
var-GS19703-1100-36-ASM
var-GS19238-1100-36-ASM
ABCA13 L4030Pinsufficiently evaluated not reviewed, f=0.016unknown var-GS19025-1100-36-ASM
var-GS18501-1100-36-ASM
ABCA13 N4222Dinsufficiently evaluated not reviewed, f=0.143unknown var-GS18942-1100-36-ASM
var-GS18501-1100-36-ASM (hom)
var-GS19703-1100-36-ASM
var-GS18555-1100-36-ASM
var-GS18537-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS19669-1100-36-ASM
var-GS20509-1100-36-ASM
var-GS18956-1100-36-ASM
var-GS18517-1100-36-ASM
ABCA13 Q4247Rinsufficiently evaluated not reviewed, f=0.180unknown var-GS19025-1100-36-ASM
var-GS18942-1100-36-ASM
var-GS19700-1100-36-ASM (hom)
var-GS18501-1100-36-ASM (hom)
var-GS19703-1100-36-ASM
var-GS19701-1100-36-ASM
var-GS18555-1100-36-ASM
var-GS18537-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS19670-1100-36-ASM
var-GS19669-1100-36-ASM
var-GS20509-1100-36-ASM
var-GS18956-1100-36-ASM
var-GS18517-1100-36-ASM
ABCA13 R4248Ginsufficiently evaluated noneunknown
ABCA13 N4277Dinsufficiently evaluated not reviewed, f=0.180unknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01175-DNA_D03 from PGP sample 27486199
ABCA13 P4280Ainsufficiently evaluated not reviewed, f=0.008unknown var-GS18501-1100-36-ASM
ABCA13 T4289Iinsufficiently evaluated noneunknown
ABCA13 Q4302Rinsufficiently evaluated not reviewed, f=0.176unknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370
CGI sample GS000005532
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS00253-DNA_A02_200_37
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01175-DNA_D03 from PGP sample 27486199
ABCA13 V4370Linsufficiently evaluated not reviewed, f=0.095unknown var-GS19025-1100-36-ASM
var-GS19020-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS19703-1100-36-ASM
var-GS19701-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS18508-1100-36-ASM
var-GS06985-1100-36-ASM (hom)
ABCA13 K4391Einsufficiently evaluated not reviewed, f=1.000unknown var-GS19025-1100-36-ASM (hom)
hu3215A7 build 36 substitution variants (hom)
var-GS18942-1100-36-ASM (hom)
var-GS19020-1100-36-ASM (hom)
var-GS19700-1100-36-ASM (hom)
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-ASM (hom)
var-GS18558-1100-36-ASM (hom)
var-GS19735-1100-36-ASM (hom)
var-GS07357-1100-36-ASM (hom)
var-GS19703-1100-36-ASM (hom)
hu232307 build 36 substitution variants (hom)
var-GS12004-1100-36-ASM (hom)
var-GS19701-1100-36-ASM (hom)
var-GS21767-1100-36-ASM (hom)
var-GS19704-1100-36-ASM (hom)
var-GS10851-1100-36-ASM (hom)
var-GS19834-1100-36-ASM (hom)
var-GS19239-1100-36-ASM (hom)
var-GS19017-1100-36-ASM (hom)
var-GS18502-1100-36-ASM (hom)
var-GS19649-1100-36-ASM (hom)
var-GS18555-1100-36-ASM (hom)
var-GS19648-1100-36-ASM (hom)
var-GS18537-1100-36-ASM (hom)
var-GS20502-1100-36-ASM (hom)
var-GS19129-1100-36-ASM (hom)
var-GS19240-1100-36-ASM (hom)
var-GS18526-1100-36-ASM (hom)
hu728FFF build 36 substitution variants (hom)
var-GS18947-1100-36-ASM (hom)
var-GS18505-1100-36-ASM (hom)
var-GS19238-1100-36-ASM (hom)
var-GS19670-1100-36-ASM (hom)
var-GS06994-1100-36-ASM (hom)
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)
ABCA13 V4425Linsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01175-DNA_H01 from PGP sample 94797469
CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS01175-DNA_B05 from PGP sample 83494370
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS01175-DNA_A04 from PGP sample 13272228
CGI sample GS01669-DNA_H05 from PGP sample 10971581
ABCA13 V4427Linsufficiently evaluated not reviewed, f=0.039unknown var-GS19704-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19129-1100-36-ASM
ABCA13 K4446Einsufficiently evaluated not reviewedunknown 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)
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) (hom)
CGI sample GS01669-DNA_C05 from PGP sample 42408046 (hom)
CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom)
CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
CGI sample GS000006909 (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom)
CGI sample GS000005532 (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)
CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)
CGI sample GS00253-DNA_A01_200_37 (hom)
CGI sample GS01173-DNA_D06 from PGP sample 69488604 (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (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)
CGI sample GS00253-DNA_D01_200_37 (hom)
CGI sample GS00253-DNA_C01_200_37 (hom)
CGI sample GS00253-DNA_A02_200_37 (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)
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
ABCA13 R4454Cinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
ABCA13 V4482Linsufficiently evaluated not reviewedunknown CGI sample GS00253-DNA_B02_200_37 (hom)
ABCA13 T4550Ainsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_D06 from PGP sample 69488604
ABCA13 S4555Ninsufficiently evaluated noneunknown
ABCA13 V4565Ainsufficiently evaluated noneunknown
ABCA13 E4653Ginsufficiently evaluated noneunknown
ABCA13 F4717Cinsufficiently evaluated not reviewedunknown
ABCA13 P4733Linsufficiently evaluated not reviewedunknown
ABCA13 I4786Vinsufficiently evaluated not reviewed, f=0.008unknown
ABCA13 I4841Vinsufficiently evaluated not reviewedunknown CGI sample GS00253-DNA_A01_200_37
ABCA13 K4939Rinsufficiently evaluated not reviewed, f=0.008unknown var-GS18940-1100-36-ASM
Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26
Total results: 259

Gene search

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