GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
PKHD1 T36Minsufficiently evaluated pathogenic, f=0.000unknown

(73 web hits)

PKHD1 N54Dinsufficiently evaluated not reviewedunknown
PKHD1 R92Qinsufficiently evaluated not reviewed, f=0.002unknown

(8 web hits)

CGI sample GS00253-DNA_E01_200_37
PKHD1 R496Xinsufficiently evaluated pathogenicunknown

(48 web hits)

PKHD1 R559Winsufficiently evaluated not reviewed, f=0.008unknown var-GS18558-1100-36-ASM
PKHD1 T579Minsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_F02 from PGP sample 95788191
PKHD1 K626Rinsufficiently evaluated noneunknown
PKHD1 S647Rinsufficiently evaluated noneunknown
PKHD1 P677Ainsufficiently evaluated not reviewed, f=0.008unknown var-GS18502-1100-36-ASM
PKHD1 R760Cinsufficiently evaluated not reviewed, f=0.386unknown

(8 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
var-GS19025-1100-36-ASM
CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome
hu3215A7 build 36 substitution variants
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS18942-1100-36-ASM
CGI sample GS01669-DNA_C05 from PGP sample 42408046 (hom)
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS18558-1100-36-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 (hom)
CGI sample GS000005532 (hom)
var-GS19703-1100-36-ASM
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_G01_200_37 (hom)
var-GS19701-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)
var-GS21767-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37 (hom)
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS18502-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS00253-DNA_B01_200_37 (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
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS00253-DNA_D01_200_37 (hom)
var-GS19240-1100-36-ASM
CGI sample GS00253-DNA_C01_200_37
var-GS18526-1100-36-ASM (hom)
hu728FFF build 36 substitution variants
var-GS18947-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37 (hom)
var-GS06994-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_B02 from PGP sample 94378523 (hom)
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
var-GS19669-1100-36-ASM
var-GS19026-1100-36-ASM
var-GS20509-1100-36-ASM
var-GS18940-1100-36-ASM
var-GS06985-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199
PKHD1 H811Rinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B04 from PGP sample 88590671
PKHD1 N830Sinsufficiently evaluated not reviewed, f=0.050unknown

(6 web hits)

CGI sample GS000006909
CGI sample GS01173-DNA_H06 from PGP sample 91708424
var-GS10851-1100-36-ASM
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS18537-1100-36-ASM
var-GS20502-1100-36-ASM
hu728FFF build 36 substitution variants
CGI sample GS01669-DNA_A04 from PGP sample 08188426
var-GS18956-1100-36-ASM
PKHD1 M947Vinsufficiently evaluated not reviewed, f=0.008unknown var-GS19238-1100-36-ASM
PKHD1 Y1136Cinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01175-DNA_A04 from PGP sample 13272228
PKHD1 E1161Ginsufficiently evaluated not reviewed, f=0.008unknown var-GS18947-1100-36-ASM
PKHD1 W1229Sinsufficiently evaluated not reviewed, f=0.012unknown var-GS19704-1100-36-ASM
PKHD1 A1260Vinsufficiently evaluated not reviewedunknown
PKHD1 A1262Vinsufficiently evaluated none, f=0.389unknown

(3 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
var-GS19025-1100-36-ASM
CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome
hu3215A7 build 36 substitution variants
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS18942-1100-36-ASM
CGI sample GS01669-DNA_C05 from PGP sample 42408046 (hom)
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS18558-1100-36-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 (hom)
CGI sample GS000005532 (hom)
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_G01_200_37 (hom)
var-GS19701-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)
var-GS21767-1100-36-ASM
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS18502-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS00253-DNA_B01_200_37 (hom)
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS00253-DNA_F01_200_37
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS00253-DNA_D01_200_37 (hom)
var-GS19240-1100-36-ASM
CGI sample GS00253-DNA_C01_200_37
var-GS18526-1100-36-ASM (hom)
var-GS18947-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37 (hom)
var-GS06994-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_B02 from PGP sample 94378523 (hom)
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
var-GS19669-1100-36-ASM
var-GS19026-1100-36-ASM
var-GS20509-1100-36-ASM
var-GS18940-1100-36-ASM
var-GS06985-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199
PKHD1 L1414Pinsufficiently evaluated not reviewed, f=0.008unknown var-GS21767-1100-36-ASM
PKHD1 H1568Yinsufficiently evaluated not reviewedunknown
PKHD1 Y1570Cinsufficiently evaluated not reviewed, f=0.000unknown var-GS19701-1100-36-ASM
PKHD1 N1617Dinsufficiently evaluated not reviewedunknown
PKHD1 S1664Finsufficiently evaluated pathogenicunknown

(9 web hits)

PKHD1 L1709Finsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_D05 from PGP sample 1205491
PKHD1 V1741Minsufficiently evaluated pathogenic, f=0.000unknown

(5 web hits)

PKHD1 L1870Vinsufficiently evaluated not reviewed, f=0.952unknown

(3 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 (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-GS18502-1100-36-ASM (hom)
var-GS19649-1100-36-ASM (hom)
var-GS18555-1100-36-ASM (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
var-GS19648-1100-36-ASM (hom)
var-GS18537-1100-36-ASM (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom)
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01669-DNA_H05 from PGP sample 10971581 (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)
PKHD1 N2071Hinsufficiently evaluated not reviewed, f=0.004unknown var-GS19704-1100-36-ASM
PKHD1 G2081Einsufficiently evaluated not reviewed, f=0.008unknown var-GS18942-1100-36-ASM
PKHD1 G2285Euncertain benign, f=0.002unknown

Tentatively classified as benign. Computationally predicted to be disruptive, but this has been seen twice in various unaffected controls and has not among published patients with autosomal recessive polycystic kidney disease, significantly contradicting a severe pathogenic effect.

PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
PKHD1 F2417Linsufficiently evaluated not reviewed, f=0.008unknown var-GS18502-1100-36-ASM
PKHD1 D2433Vinsufficiently evaluated not reviewed, f=0.012unknown var-GS19025-1100-36-ASM
PKHD1 A2579Vinsufficiently evaluated none, f=0.001unknown var-GS18517-1100-36-ASM
PKHD1 R2671Xinsufficiently evaluated pathogenicunknown

(6 web hits)

PKHD1 M2841Vinsufficiently evaluated not reviewed, f=0.009unknown

(2 web hits)

PKHD1 S2861Ginsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B05 from PGP sample 83494370
PKHD1 S3018Finsufficiently evaluated pathogenicunknown

(6 web hits)

PKHD1 A3072Vinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_B03 from PGP sample 14427241
PKHD1 V3193Iinsufficiently evaluated none, f=0.019unknown

(2 web hits)

PKHD1 V3278Dinsufficiently evaluated not reviewed, f=0.008unknown
PKHD1 S3417Rinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_H01 from PGP sample 94797469
PKHD1 S3435Ninsufficiently evaluated noneunknown
PKHD1 V3471Ginsufficiently evaluated pathogenicunknown

(46 web hits)

PKHD1 S3505Rinsufficiently evaluated not reviewed, f=0.008unknown var-GS06985-1100-36-ASM
PKHD1 G3511Rinsufficiently evaluated not reviewed, f=0.001unknown
PKHD1 E3529Qinsufficiently evaluated not reviewed, f=0.013unknown var-GS19834-1100-36-ASM
PKHD1 I3553Tinsufficiently evaluated pathogenicunknown

(6 web hits)

PKHD1 T3628Iinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B04 from PGP sample 88590671
PKHD1 V3705Iinsufficiently evaluated not reviewedunknown
PKHD1 V3837Iinsufficiently evaluated none, f=0.054unknown

(2 web hits)

var-GS19025-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS19240-1100-36-ASM
var-GS18508-1100-36-ASM
var-GS19026-1100-36-ASM
PKHD1 R3842Linsufficiently evaluated not reviewed, f=0.018unknown CGI sample GS01669-DNA_C05 from PGP sample 42408046
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
PKHD1 Q3899Rinsufficiently evaluated not reviewed, f=0.522unknown

(5 web hits)

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
CGI sample GS01669-DNA_F02 from PGP sample 40767107 (hom)
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome
hu3215A7 build 36 substitution variants (hom)
var-GS18942-1100-36-ASM
CGI sample GS01669-DNA_C05 from PGP sample 42408046 (hom)
var-GS19020-1100-36-ASM
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS18558-1100-36-ASM
var-GS19735-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM (hom)
CGI sample GS000005532
var-GS19703-1100-36-ASM
hu232307 build 36 substitution variants (hom)
var-GS12004-1100-36-ASM
CGI sample GS00253-DNA_G01_200_37
var-GS19701-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS21767-1100-36-ASM (hom)
var-GS19704-1100-36-ASM
var-GS10851-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37 (hom)
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM (hom)
var-GS19649-1100-36-ASM
var-GS18555-1100-36-ASM (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
var-GS19648-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom)
CGI sample GS00253-DNA_B02_200_37 (hom)
CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom)
var-GS20502-1100-36-ASM (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272
var-GS19129-1100-36-ASM (hom)
CGI sample GS00253-DNA_D01_200_37
var-GS19240-1100-36-ASM
CGI sample GS00253-DNA_C01_200_37
var-GS18526-1100-36-ASM (hom)
hu728FFF build 36 substitution variants (hom)
var-GS18505-1100-36-ASM (hom)
var-GS19238-1100-36-ASM (hom)
var-GS19670-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
var-GS06994-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom)
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01173-DNA_A07 from PGP sample 96240009 (hom)
CGI sample GS01173-DNA_B07 from PGP sample 61499538
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 (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199
PKHD1 I3905Nuncertain benign, f=0.049unknown

Presumed benign, allele frequency contradicts severe pathogenic effect.

(3 web hits)

var-GS19703-1100-36-ASM
CGI sample GS01669-DNA_B03 from PGP sample 14427241
var-GS19834-1100-36-ASM
CGI sample GS00253-DNA_B01_200_37
CGI sample GS00253-DNA_F01_200_37
PKHD1 V3960Iuncertain benign, f=0.013unknown

Probably benign, reported as a nonpathogenic polymorphism found in controls.

(3 web hits)

CGI sample GS00253-DNA_B01_200_37
CGI sample GS00253-DNA_F01_200_37
PKHD1 Q4048Rinsufficiently evaluated not reviewed, f=0.524unknown

(6 web hits)

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
CGI sample GS01669-DNA_F02 from PGP sample 40767107 (hom)
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome
hu3215A7 build 36 substitution variants (hom)
var-GS18942-1100-36-ASM
CGI sample GS01669-DNA_C05 from PGP sample 42408046 (hom)
var-GS19020-1100-36-ASM
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS18558-1100-36-ASM
var-GS19735-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM (hom)
CGI sample GS000005532
var-GS19703-1100-36-ASM
hu232307 build 36 substitution variants (hom)
var-GS12004-1100-36-ASM
CGI sample GS00253-DNA_G01_200_37
var-GS19701-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS21767-1100-36-ASM (hom)
var-GS19704-1100-36-ASM
var-GS10851-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37 (hom)
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM (hom)
var-GS19649-1100-36-ASM
var-GS18555-1100-36-ASM (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
var-GS19648-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom)
CGI sample GS00253-DNA_B02_200_37 (hom)
CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom)
var-GS20502-1100-36-ASM (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272
var-GS19129-1100-36-ASM (hom)
CGI sample GS00253-DNA_D01_200_37 (hom)
var-GS19240-1100-36-ASM
CGI sample GS00253-DNA_C01_200_37
var-GS18526-1100-36-ASM (hom)
hu728FFF build 36 substitution variants (hom)
var-GS18505-1100-36-ASM (hom)
var-GS19238-1100-36-ASM (hom)
var-GS19670-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
var-GS06994-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom)
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01173-DNA_A07 from PGP sample 96240009 (hom)
CGI sample GS01173-DNA_B07 from PGP sample 61499538
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 (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199
PKHD1L1 N73Tinsufficiently evaluated not reviewed, f=0.008unknown var-GS19026-1100-36-ASM
PKHD1L1 T122Rinsufficiently evaluated not reviewed, f=0.000unknown CGI sample GS00253-DNA_E01_200_37
PKHD1L1 I164Vinsufficiently evaluated not reviewed, f=0.037unknown CGI sample GS01669-DNA_B03 from PGP sample 14427241
var-GS20509-1100-36-ASM
PKHD1L1 F256Linsufficiently evaluated not reviewed, f=0.031unknown var-GS19020-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
var-GS19240-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS19026-1100-36-ASM
PKHD1L1 M265Tinsufficiently evaluated not reviewed, f=0.011unknown CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS00253-DNA_D01_200_37
PKHD1L1 W373Cinsufficiently evaluated none, f=0.012unknown

(3 web hits)

var-GS19700-1100-36-ASM
var-GS19129-1100-36-ASM
var-GS18517-1100-36-ASM
PKHD1L1 L423Rinsufficiently evaluated not reviewed, f=0.005unknown var-GS18505-1100-36-ASM
PKHD1L1 N436Kinsufficiently evaluated not reviewed, f=0.000unknown var-GS18558-1100-36-ASM
PKHD1L1 Y440Hinsufficiently evaluated none, f=0.275unknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_G03 from PGP sample 92527586
var-GS19025-1100-36-ASM
hu3215A7 build 36 substitution variants (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 (hom)
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS18504-1100-36-ASM
var-GS18558-1100-36-ASM
var-GS19735-1100-36-ASM (hom)
CGI sample GS000006909 (hom)
var-GS07357-1100-36-ASM
var-GS19703-1100-36-ASM
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM
CGI sample GS01669-DNA_B03 from PGP sample 14427241
var-GS19701-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS10851-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37 (hom)
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM (hom)
var-GS19649-1100-36-ASM
var-GS18555-1100-36-ASM (hom)
var-GS19648-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01173-DNA_F06 from PGP sample 64191565
var-GS19129-1100-36-ASM
var-GS19240-1100-36-ASM
hu728FFF build 36 substitution variants
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_B04 from PGP sample 88590671
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS19026-1100-36-ASM
var-GS20509-1100-36-ASM
var-GS18940-1100-36-ASM (hom)
var-GS06985-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
PKHD1L1 P560Linsufficiently evaluated not reviewed, f=0.001unknown var-GS19020-1100-36-ASM
PKHD1L1 D797Einsufficiently evaluated not reviewed, f=0.010unknown var-GS18501-1100-36-ASM
var-GS19701-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS18508-1100-36-ASM
PKHD1L1 H923Rinsufficiently evaluated none, f=0.597unknown CGI sample GS00253-DNA_E01_200_37
CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_G03 from PGP sample 92527586 (hom)
var-GS19025-1100-36-ASM (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 (hom)
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS19700-1100-36-ASM
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
var-GS07357-1100-36-ASM
var-GS19703-1100-36-ASM
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-GS21767-1100-36-ASM (hom)
var-GS19704-1100-36-ASM (hom)
var-GS10851-1100-36-ASM
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19834-1100-36-ASM
var-GS19017-1100-36-ASM (hom)
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
var-GS18537-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom)
CGI sample GS01173-DNA_F06 from PGP sample 64191565 (hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
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-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 (hom)
CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom)
CGI sample GS01173-DNA_A07 from PGP sample 96240009
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
var-GS18508-1100-36-ASM (hom)
var-GS19669-1100-36-ASM
var-GS19026-1100-36-ASM (hom)
var-GS20509-1100-36-ASM
var-GS18940-1100-36-ASM (hom)
var-GS06985-1100-36-ASM (hom)
var-GS18517-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199
PKHD1L1 Y943Hinsufficiently evaluated none, f=0.091unknown hu3215A7 build 36 substitution variants
var-GS19020-1100-36-ASM (hom)
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-ASM
var-GS19701-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS18502-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
var-GS19129-1100-36-ASM
var-GS19240-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM (hom)
var-GS18508-1100-36-ASM
var-GS19026-1100-36-ASM
var-GS18517-1100-36-ASM (hom)
PKHD1L1 A957Einsufficiently evaluated none, f=0.012unknown

(1 web hit)

var-GS19129-1100-36-ASM
var-GS18517-1100-36-ASM
PKHD1L1 N1005Sinsufficiently evaluated not reviewed, f=0.041unknown var-GS19020-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
var-GS19240-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS19026-1100-36-ASM
var-GS18517-1100-36-ASM
PKHD1L1 G1145Ainsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_A07 from PGP sample 96240009
PKHD1L1 T1192Ainsufficiently evaluated none, f=0.243unknown CGI sample GS00253-DNA_E01_200_37
CGI sample GS01175-DNA_G03 from PGP sample 92527586
hu3215A7 build 36 substitution variants
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS19020-1100-36-ASM
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-ASM
CGI sample GS01175-DNA_B05 from PGP sample 83494370
CGI sample GS000005532
CGI sample GS00253-DNA_G01_200_37
var-GS19701-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19649-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS00253-DNA_F01_200_37
var-GS20502-1100-36-ASM
var-GS19129-1100-36-ASM
var-GS19240-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM (hom)
var-GS19670-1100-36-ASM
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_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-GS06985-1100-36-ASM
var-GS18517-1100-36-ASM
PKHD1L1 G1223Vinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS01175-DNA_B04 from PGP sample 88590671
PKHD1L1 P1247Qinsufficiently evaluated not reviewedunknown CGI sample GS000006909
PKHD1L1 A1274Vinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B01 from PGP sample 86206034
PKHD1L1 T1349Ninsufficiently evaluated not reviewed, f=0.010unknown CGI sample GS00253-DNA_C01_200_37
PKHD1L1 P1430Linsufficiently evaluated none, f=0.003unknown
PKHD1L1 G1436Rinsufficiently evaluated not reviewed, f=0.001unknown var-GS19670-1100-36-ASM
PKHD1L1 V1448Iinsufficiently evaluated not reviewed, f=0.002unknown var-GS19129-1100-36-ASM
PKHD1L1 S1468Finsufficiently evaluated not reviewedunknown hu34D5B9 exome
PKHD1L1 R1514Sinsufficiently evaluated none, f=0.540unknown CGI sample GS00253-DNA_E01_200_37
CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_G03 from PGP sample 92527586
var-GS19025-1100-36-ASM (hom)
hu3215A7 build 36 substitution variants
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) (hom)
var-GS18942-1100-36-ASM
CGI sample GS01669-DNA_C05 from PGP sample 42408046 (hom)
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-ASM
var-GS18558-1100-36-ASM
var-GS19735-1100-36-ASM (hom)
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909 (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM
CGI sample GS000005532
var-GS19703-1100-36-ASM
hu232307 build 36 substitution variants
var-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 (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
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM (hom)
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
CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom)
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01173-DNA_F06 from PGP sample 64191565 (hom)
CGI sample GS00253-DNA_F01_200_37
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
var-GS19129-1100-36-ASM (hom)
var-GS19240-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS19238-1100-36-ASM
var-GS19670-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
var-GS06994-1100-36-ASM (hom)
CGI sample GS00253-DNA_H01_200_37 (hom)
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01175-DNA_F02 from PGP sample 95788191 (hom)
CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom)
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01173-DNA_A07 from PGP sample 96240009
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
var-GS18508-1100-36-ASM (hom)
var-GS19669-1100-36-ASM
var-GS19026-1100-36-ASM
var-GS20509-1100-36-ASM
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
PKHD1L1 V1607Iinsufficiently evaluated none, f=0.017unknown CGI sample GS00253-DNA_E01_200_37
PKHD1L1 Y1638Cinsufficiently evaluated none, f=0.207unknown CGI sample GS01175-DNA_G03 from PGP sample 92527586
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
CGI sample GS000005532
CGI sample GS00253-DNA_G01_200_37
var-GS21767-1100-36-ASM
var-GS19704-1100-36-ASM (hom)
var-GS18502-1100-36-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_D02 from PGP sample 27316983
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS00253-DNA_F01_200_37
var-GS20502-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS19670-1100-36-ASM
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_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-GS06985-1100-36-ASM
PKHD1L1 E1868Kinsufficiently evaluated not reviewed, f=0.013unknown var-GS19025-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS19017-1100-36-ASM
PKHD1L1 V1957Iinsufficiently evaluated not reviewed, f=0.009unknown var-GS18502-1100-36-ASM
PKHD1L1 V1965Linsufficiently evaluated none, f=0.592unknown CGI sample GS00253-DNA_E01_200_37
CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_G03 from PGP sample 92527586
var-GS19025-1100-36-ASM (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 (hom)
var-GS19020-1100-36-ASM (hom)
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS19700-1100-36-ASM (hom)
var-GS18501-1100-36-ASM (hom)
var-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
var-GS07357-1100-36-ASM
CGI sample GS000005532
var-GS19703-1100-36-ASM
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 (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
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM (hom)
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
CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom)
CGI sample GS00253-DNA_B02_200_37 (hom)
CGI sample GS01173-DNA_F06 from PGP sample 64191565 (hom)
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
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
CGI sample GS00253-DNA_A02_200_37
var-GS06994-1100-36-ASM (hom)
CGI sample GS00253-DNA_H01_200_37 (hom)
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01175-DNA_F02 from PGP sample 95788191 (hom)
CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom)
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01173-DNA_A07 from PGP sample 96240009
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
var-GS18508-1100-36-ASM (hom)
var-GS19669-1100-36-ASM
var-GS19026-1100-36-ASM (hom)
var-GS20509-1100-36-ASM
var-GS18940-1100-36-ASM (hom)
var-GS06985-1100-36-ASM (hom)
var-GS18517-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199
PKHD1L1 K2074Rinsufficiently evaluated not reviewed, f=0.002unknown var-GS18517-1100-36-ASM
PKHD1L1 A2086Tinsufficiently evaluated none, f=0.008unknown var-GS18947-1100-36-ASM
PKHD1L1 R2301Cinsufficiently evaluated not reviewed, f=0.001unknown var-GS19239-1100-36-ASM
var-GS19240-1100-36-ASM
PKHD1L1 R2572Qinsufficiently evaluated not reviewed, f=0.024unknown CGI sample GS00253-DNA_B02_200_37
var-GS19026-1100-36-ASM
PKHD1L1 T2615Iinsufficiently evaluated not reviewed, f=0.008unknown var-GS18956-1100-36-ASM
PKHD1L1 V2777Iinsufficiently evaluated not reviewed, f=0.006unknown var-GS19704-1100-36-ASM
PKHD1L1 T2810Ninsufficiently evaluated not reviewed, f=0.002unknown var-GS19240-1100-36-ASM
var-GS19238-1100-36-ASM
PKHD1L1 S2816Linsufficiently evaluated not reviewedunknown
PKHD1L1 H3050Qinsufficiently evaluated none, f=0.357unknown CGI sample GS01175-DNA_G03 from PGP sample 92527586
var-GS19025-1100-36-ASM
hu3215A7 build 36 substitution variants (hom)
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) (hom)
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS19020-1100-36-ASM
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-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
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_G01_200_37
var-GS19701-1100-36-ASM (hom)
var-GS21767-1100-36-ASM (hom)
var-GS19704-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM (hom)
var-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
CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom)
CGI sample GS00253-DNA_B02_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
var-GS19129-1100-36-ASM (hom)
var-GS19240-1100-36-ASM
hu728FFF build 36 substitution variants
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 (hom)
CGI sample GS00253-DNA_H01_200_37 (hom)
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_B02 from PGP sample 94378523
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-GS20509-1100-36-ASM
var-GS18940-1100-36-ASM (hom)
var-GS06985-1100-36-ASM (hom)
var-GS18517-1100-36-ASM (hom)
PKHD1L1 V3080Iinsufficiently evaluated none, f=0.047unknown hu3215A7 build 36 substitution variants
var-GS19020-1100-36-ASM
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37
var-GS18502-1100-36-ASM
var-GS19129-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS18517-1100-36-ASM
PKHD1L1 Y3096Sinsufficiently evaluated not reviewed, f=0.005unknown var-GS19700-1100-36-ASM
PKHD1L1 V3182Ainsufficiently evaluated not reviewed, f=0.027unknown CGI sample GS00253-DNA_B02_200_37
var-GS19026-1100-36-ASM
PKHD1L1 I3411Vinsufficiently evaluated none, f=0.046unknown var-GS19020-1100-36-ASM
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37
var-GS18502-1100-36-ASM
var-GS19129-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS18517-1100-36-ASM
PKHD1L1 D3437Ginsufficiently evaluated not reviewed, f=0.020unknown CGI sample GS00253-DNA_B01_200_37
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS00253-DNA_C01_200_37
PKHD1L1 D3607Einsufficiently evaluated none, f=0.052unknown

(1 web hit)

CGI sample GS00253-DNA_E01_200_37
var-GS19704-1100-36-ASM
PKHD1L1 L3862Finsufficiently evaluated none, f=0.029unknown var-GS19700-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37
var-GS18502-1100-36-ASM
var-GS19129-1100-36-ASM
var-GS18517-1100-36-ASM
PKHD1L1 G3990Einsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B05 from PGP sample 83494370
PKHD1L1 I3992Vinsufficiently evaluated not reviewed, f=0.009unknown var-GS21767-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS18508-1100-36-ASM
PKHD1L1 N4164Dinsufficiently evaluated not reviewed, f=0.008unknown var-GS20502-1100-36-ASM
PKHD1L1 SS4191RAinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_D02 from PGP sample 27316983
PKHD1L1 I4216Ninsufficiently evaluated not reviewed, f=0.006unknown var-GS19700-1100-36-ASM
PKHD1L1 V4220Iinsufficiently evaluated none, f=0.207unknown var-GS19025-1100-36-ASM
hu3215A7 build 36 substitution variants (hom)
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS19020-1100-36-ASM
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-ASM (hom)
var-GS19735-1100-36-ASM (hom)
CGI sample GS000006909 (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS01669-DNA_B03 from PGP sample 14427241
var-GS19701-1100-36-ASM (hom)
var-GS21767-1100-36-ASM (hom)
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM (hom)
var-GS18502-1100-36-ASM
var-GS19649-1100-36-ASM
var-GS18555-1100-36-ASM (hom)
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 GS01175-DNA_B01 from PGP sample 86206034
var-GS19129-1100-36-ASM (hom)
var-GS19240-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS06994-1100-36-ASM (hom)
CGI sample GS00253-DNA_H01_200_37 (hom)
CGI sample GS01173-DNA_B02 from PGP sample 94378523
var-GS18508-1100-36-ASM
var-GS20509-1100-36-ASM
var-GS18940-1100-36-ASM (hom)
var-GS06985-1100-36-ASM
var-GS18517-1100-36-ASM (hom)
PKHD1L1 L4225Vinsufficiently evaluated not reviewed, f=0.008unknown var-GS18956-1100-36-ASM
Page: 1 2 3 4 5 6 7 8 9 10 11
Total results: 108

Gene search

"GENE" or "GENE A123C":

Log in