GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
FAS A16Tinsufficiently evaluated none, f=0.040unknown

(11 web hits)

CGI sample GS01669-DNA_C07 from PGP sample 74521372
var-GS19834-1100-36-ASM
var-GS19129-1100-36-ASM
var-GS19240-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS18517-1100-36-ASM (hom)
FAS C135Shiftinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_B03 from PGP sample 14427241
FAS I184Vinsufficiently evaluated not reviewed, f=0.003unknown var-GS19026-1100-36-ASM
FASLG P53Delinsufficiently evaluated not reviewedunknown CGI sample GS000006909
FASLG P60Shiftinsufficiently evaluated not reviewed, f=0.008unknown var-GS18942-1100-36-ASM
FASN R477Hinsufficiently evaluated not reviewedunknown
FASN G479Vinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS01175-DNA_B04 from PGP sample 88590671
FASN P617Linsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_D06 from PGP sample 69488604
FASN E719Kinsufficiently evaluated none, f=0.006unknown

(12 web hits)

FASN A860Vinsufficiently evaluated not reviewed, f=0.000unknown var-GS19239-1100-36-ASM
FASN G882Dinsufficiently evaluated not reviewed, f=0.000unknown CGI sample GS000005532
FASN S955Tinsufficiently evaluated not reviewed, f=0.008unknown var-GS19670-1100-36-ASM
FASN G1045Sinsufficiently evaluated not reviewedunknown
FASN I1113Vinsufficiently evaluated not reviewed, f=0.009unknown var-GS18947-1100-36-ASM
FASN C1186Finsufficiently evaluated noneunknown
FASN G1308Dinsufficiently evaluated noneunknown
FASN P1325Linsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_A07 from PGP sample 96240009
FASN V1483Iinsufficiently evaluated none, f=0.038unknown

(34 web hits)

CGI sample GS01175-DNA_G03 from PGP sample 92527586 (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom)
var-GS19129-1100-36-ASM
FASN P1667Sinsufficiently evaluated none, f=0.001unknown var-GS18942-1100-36-ASM
var-GS18558-1100-36-ASM
var-GS18526-1100-36-ASM
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
FASN A1688Tinsufficiently evaluated not reviewed, f=0.000unknown var-GS19025-1100-36-ASM
FASN V1695Iinsufficiently evaluated not reviewed, f=0.008unknown var-GS19020-1100-36-ASM
FASN P1713Linsufficiently evaluated not reviewedunknown
FASN P1779Linsufficiently evaluated not reviewed, f=0.008unknown CGI sample GS00253-DNA_G01_200_37
FASN I1888Vinsufficiently evaluated none, f=0.031unknown var-GS19129-1100-36-ASM
var-GS18508-1100-36-ASM
FASN V1937Iinsufficiently evaluated not reviewed, f=0.008unknown var-GS18947-1100-36-ASM
FASN E1958Kinsufficiently evaluated not reviewed, f=0.004unknown CGI sample GS01173-DNA_G02 from PGP sample 67180598
var-GS21767-1100-36-ASM
FASN V2005Ainsufficiently evaluated none, f=0.024unknown

(18 web hits)

var-GS18504-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS19704-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
var-GS19026-1100-36-ASM
FASN A2040Sinsufficiently evaluated not reviewed, f=0.002unknown var-GS19701-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
FASN T2083Pinsufficiently evaluated not reviewed, f=0.009unknown var-GS19703-1100-36-ASM
FASN R2185Qinsufficiently evaluated not reviewed, f=0.010unknown var-GS19834-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS19238-1100-36-ASM
FASN S2198Ginsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_A04 from PGP sample 08188426
FASN I2290Finsufficiently evaluated not reviewed, f=0.008unknown var-GS19026-1100-36-ASM
FASN A2398Sinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_H06 from PGP sample 91708424
FASTK A295Vinsufficiently evaluated noneunknown
FASTK F386Cinsufficiently evaluated not reviewed, f=0.000unknown var-GS19020-1100-36-ASM
FASTK A436Vinsufficiently evaluated none, f=0.032unknown
FASTKD1 K45Tinsufficiently evaluated not reviewed, f=0.006unknown var-GS18501-1100-36-ASM
var-GS18508-1100-36-ASM
FASTKD1 G54Dinsufficiently evaluated not reviewed, f=0.002unknown var-GS19026-1100-36-ASM
FASTKD1 Y122Hinsufficiently evaluated not reviewed, f=0.004unknown var-GS18504-1100-36-ASM
FASTKD1 E384Qinsufficiently evaluated none, f=0.026unknown

(4 web hits)

CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01175-DNA_H01 from PGP sample 94797469
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) (hom)
var-GS07357-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS18555-1100-36-ASM
var-GS20509-1100-36-ASM
FASTKD1 S410Iinsufficiently evaluated not reviewed, f=0.008unknown var-GS18558-1100-36-ASM
FASTKD1 M467Vinsufficiently evaluated none, f=0.557unknown CGI sample GS00253-DNA_E01_200_37
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)
hu34D5B9 exome (hom)
var-GS18942-1100-36-ASM
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS19020-1100-36-ASM
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
CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom)
var-GS07357-1100-36-ASM
CGI sample GS000005532 (hom)
var-GS19703-1100-36-ASM (hom)
hu232307 build 36 substitution variants (hom)
var-GS12004-1100-36-ASM (hom)
CGI sample GS00253-DNA_G01_200_37 (hom)
var-GS19701-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS21767-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37 (hom)
CGI sample GS01173-DNA_D06 from PGP sample 69488604 (hom)
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM (hom)
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19649-1100-36-ASM
var-GS18555-1100-36-ASM
var-GS19648-1100-36-ASM
var-GS18537-1100-36-ASM (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581
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 (hom)
var-GS20502-1100-36-ASM (hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01175-DNA_D01 from PGP sample 31286272
var-GS19129-1100-36-ASM
CGI sample GS00253-DNA_D01_200_37 (hom)
var-GS19240-1100-36-ASM
CGI sample GS00253-DNA_C01_200_37
var-GS18526-1100-36-ASM
var-GS18947-1100-36-ASM
var-GS18505-1100-36-ASM (hom)
var-GS19670-1100-36-ASM (hom)
CGI sample GS00253-DNA_A02_200_37 (hom)
var-GS06994-1100-36-ASM
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01175-DNA_F02 from PGP sample 95788191 (hom)
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01173-DNA_A07 from PGP sample 96240009 (hom)
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS18508-1100-36-ASM
var-GS19669-1100-36-ASM (hom)
var-GS19026-1100-36-ASM
var-GS20509-1100-36-ASM
var-GS18940-1100-36-ASM (hom)
var-GS06985-1100-36-ASM
var-GS18517-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
FASTKD1 H600Vinsufficiently evaluated not reviewed, f=0.008unknown var-GS18505-1100-36-ASM
FASTKD1 T699Iinsufficiently evaluated not reviewed, f=0.000unknown PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
FASTKD1 A750Vinsufficiently evaluated none, f=0.000unknown
FASTKD1 S768Xinsufficiently evaluated not reviewed, f=0.012unknown var-GS07357-1100-36-ASM
FASTKD1 R803Shiftinsufficiently evaluated not reviewed, f=0.008unknown CGI sample GS00253-DNA_H01_200_37
FASTKD2 S10Tinsufficiently evaluated not reviewed, f=0.005unknown CGI sample GS00253-DNA_E01_200_37
FASTKD2 S15Ninsufficiently evaluated none, f=0.131unknown

(3 web hits)

CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01175-DNA_H01 from PGP sample 94797469
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS18504-1100-36-ASM
var-GS18558-1100-36-ASM
CGI sample GS000006909
CGI sample GS000005532
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19239-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS01175-DNA_D01 from PGP sample 31286272
var-GS19129-1100-36-ASM
var-GS19240-1100-36-ASM
var-GS18947-1100-36-ASM
var-GS19238-1100-36-ASM (hom)
var-GS18508-1100-36-ASM
var-GS18940-1100-36-ASM
var-GS18517-1100-36-ASM
FASTKD2 R205Pinsufficiently evaluated noneunknown
FASTKD2 Q228Hinsufficiently evaluated not reviewed, f=0.008unknown var-GS19735-1100-36-ASM
FASTKD2 T291Minsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_G03 from PGP sample 92527586
FASTKD2 D364Ninsufficiently evaluated not reviewed, f=0.010unknown var-GS19020-1100-36-ASM
FASTKD2 N396Sinsufficiently evaluated not reviewed, f=0.012unknown var-GS19025-1100-36-ASM
var-GS18508-1100-36-ASM
FASTKD2 R416Xinsufficiently evaluated pathogenicunknown

(4 web hits)

FASTKD2 N673Sinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_D01 from PGP sample 31286272
FASTKD2 A698Vinsufficiently evaluated not reviewed, f=0.003unknown var-GS19703-1100-36-ASM
FASTKD3 L3Finsufficiently evaluated none, f=0.008unknown

(4 web hits)

var-GS18555-1100-36-ASM
FASTKD3 K56Rinsufficiently evaluated none, f=0.847unknown 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
CGI sample GS01175-DNA_G03 from PGP sample 92527586 (hom)
var-GS19025-1100-36-ASM (hom)
CGI sample GS01669-DNA_F02 from PGP sample 40767107 (hom)
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome (hom)
hu3215A7 build 36 substitution variants
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) (hom)
var-GS18942-1100-36-ASM
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 (hom)
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 (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom)
var-GS07357-1100-36-ASM (hom)
CGI sample GS000005532
var-GS19703-1100-36-ASM (hom)
hu232307 build 36 substitution variants (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
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS21767-1100-36-ASM (hom)
var-GS19704-1100-36-ASM (hom)
var-GS10851-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37 (hom)
CGI sample GS01173-DNA_D06 from PGP sample 69488604 (hom)
var-GS19834-1100-36-ASM (hom)
var-GS19239-1100-36-ASM (hom)
var-GS19017-1100-36-ASM (hom)
var-GS18502-1100-36-ASM (hom)
var-GS19649-1100-36-ASM
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 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
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
var-GS19129-1100-36-ASM (hom)
CGI sample GS00253-DNA_D01_200_37 (hom)
var-GS19240-1100-36-ASM (hom)
CGI sample GS00253-DNA_C01_200_37 (hom)
var-GS18526-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS18947-1100-36-ASM
var-GS18505-1100-36-ASM (hom)
var-GS19238-1100-36-ASM (hom)
var-GS19670-1100-36-ASM
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
var-GS19026-1100-36-ASM
var-GS20509-1100-36-ASM (hom)
var-GS18940-1100-36-ASM (hom)
var-GS06985-1100-36-ASM (hom)
var-GS18956-1100-36-ASM (hom)
var-GS18517-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
FASTKD3 N93Sinsufficiently evaluated not reviewed, f=0.005unknown var-GS18504-1100-36-ASM
FASTKD3 E459Qinsufficiently evaluated not reviewed, f=0.005unknown var-GS18501-1100-36-ASM
FASTKD3 E459Ginsufficiently evaluated none, f=0.044unknown var-GS18942-1100-36-ASM
var-GS19735-1100-36-ASM
CGI sample GS01669-DNA_B03 from PGP sample 14427241
var-GS21767-1100-36-ASM
var-GS19649-1100-36-ASM
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
var-GS18947-1100-36-ASM
CGI sample GS01175-DNA_B04 from PGP sample 88590671
var-GS18956-1100-36-ASM
FASTKD5 I288Tinsufficiently evaluated none, f=0.002unknown

(3 web hits)

CGI sample GS00253-DNA_A01_200_37
FASTKD5 I377Vinsufficiently evaluated not reviewed, f=0.008unknown var-GS18558-1100-36-ASM
FASTKD5 I380Rinsufficiently evaluated none, f=0.086unknown CGI sample GS00253-DNA_E01_200_37
hu34D5B9 exome
CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS19735-1100-36-ASM
CGI sample GS01175-DNA_B05 from PGP sample 83494370
CGI sample GS000005532
var-GS19834-1100-36-ASM
var-GS19648-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_F01_200_37
CGI sample GS01175-DNA_D01 from PGP sample 31286272
var-GS19670-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01173-DNA_A07 from PGP sample 96240009
CGI sample GS01175-DNA_D03 from PGP sample 27486199
FASTKD5 A698Vinsufficiently evaluated not reviewed, f=0.008unknown var-GS18537-1100-36-ASM
FASTKD5 D713Ginsufficiently evaluated none, f=0.051unknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS19703-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19240-1100-36-ASM
var-GS18505-1100-36-ASM (hom)
var-GS19238-1100-36-ASM
var-GS18508-1100-36-ASM
var-GS19026-1100-36-ASM
var-GS18517-1100-36-ASM
Page: 1 2 3 4 5 6 7
Total results: 67

Gene search

"GENE" or "GENE A123C":

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