GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
CPS1 Q44Xinsufficiently evaluated pathogenicunknown

(2 web hits)

CPS1 E114Shiftinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B05 from PGP sample 83494370
CPS1 G116Shiftinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B05 from PGP sample 83494370
CPS1 K127Einsufficiently evaluated not reviewedunknown
CPS1 K133Einsufficiently evaluated not reviewedunknown
CPS1 G150Einsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_A07 from PGP sample 96240009
CPS1 A204Ginsufficiently evaluated not reviewedunknown
CPS1 H337Rinsufficiently evaluated pathogenicunknown

(47 web hits)

CPS1 T344Ainsufficiently evaluated not reviewed, f=0.597unknown

(3 web hits)

CGI sample GS00253-DNA_E01_200_37 (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 (hom)
var-GS18942-1100-36-ASM (hom)
var-GS19020-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS18504-1100-36-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 (hom)
var-GS19703-1100-36-ASM
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 (hom)
CGI sample GS00253-DNA_G01_200_37 (hom)
var-GS19701-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)
var-GS21767-1100-36-ASM (hom)
var-GS19704-1100-36-ASM (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
var-GS19017-1100-36-ASM
var-GS19649-1100-36-ASM
var-GS18555-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
var-GS19648-1100-36-ASM
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 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
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272
var-GS19129-1100-36-ASM (hom)
var-GS19240-1100-36-ASM (hom)
CGI sample GS00253-DNA_C01_200_37
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
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01173-DNA_A07 from PGP sample 96240009
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
var-GS18956-1100-36-ASM
var-GS18517-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
CPS1 T344Iinsufficiently evaluated not reviewedunknown
CPS1 A347Sinsufficiently evaluated not reviewed, f=0.001unknown var-GS12004-1100-36-ASM
CPS1 T350Ainsufficiently evaluated not reviewedunknown

(2 web hits)

hu728FFF build 36 substitution variants
CPS1 T350Iinsufficiently evaluated not reviewedunknown

(1 web hit)

CPS1 T544Minsufficiently evaluated pathogenicunknown

(1 web hit)

CPS1 T544Sinsufficiently evaluated not reviewed, f=0.003unknown var-GS19834-1100-36-ASM
CPS1 T559Minsufficiently evaluated noneunknown
CPS1 A655Ginsufficiently evaluated not reviewedunknown
CPS1 A661Ginsufficiently evaluated not reviewedunknown
CPS1 A668Tinsufficiently evaluated not reviewedunknown
CPS1 N686Tinsufficiently evaluated not reviewed, f=0.008unknown var-GS19020-1100-36-ASM
CPS1 R787Xinsufficiently evaluated pathogenicunknown

(1 web hit)

CPS1 K875Einsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_F02 from PGP sample 40767107
CPS1 T955Ninsufficiently evaluated not reviewedunknown hu728FFF build 36 substitution variants
CPS1 G982Dinsufficiently evaluated pathogenicunknown

(1 web hit)

CPS1 SV989NLinsufficiently evaluated not reviewed, f=0.008unknown var-GS19834-1100-36-ASM
CPS1 T1010Minsufficiently evaluated none, f=0.007unknown
CPS1 T1016Minsufficiently evaluated noneunknown
CPS1 A1119Tinsufficiently evaluated not reviewed, f=0.016unknown var-GS18504-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
CPS1 A1125Tinsufficiently evaluated not reviewedunknown
CPS1 K1229Ninsufficiently evaluated not reviewed, f=0.004unknown var-GS18502-1100-36-ASM
CPS1 T1405Ninsufficiently evaluated pathogenicunknown

(45 web hits)

CPS1 T1406Ninsufficiently evaluated not reviewed, f=0.329unknown

(2 web hits)

CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01669-DNA_F02 from PGP sample 40767107
hu34D5B9 exome
hu3215A7 build 36 substitution variants
var-GS18942-1100-36-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
CGI sample GS000006909
CGI sample GS000005532
CGI sample GS00253-DNA_G01_200_37
var-GS21767-1100-36-ASM
var-GS10851-1100-36-ASM (hom)
var-GS19649-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
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
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034
var-GS19129-1100-36-ASM
CGI sample GS00253-DNA_D01_200_37
hu728FFF build 36 substitution variants
var-GS18947-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS19670-1100-36-ASM
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
var-GS19026-1100-36-ASM (hom)
var-GS20509-1100-36-ASM (hom)
var-GS18956-1100-36-ASM
var-GS18517-1100-36-ASM
CPS1 T1412Ninsufficiently evaluated not reviewedunknown hu728FFF build 36 substitution variants
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Total results: 33

Gene search

"GENE" or "GENE A123C":

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