GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
MASP2 S13Linsufficiently evaluated not reviewed, f=0.001unknown
MASP2 T88Minsufficiently evaluated not reviewed, f=0.003unknown var-GS19017-1100-36-ASM
MASP2 R99Qinsufficiently evaluated not reviewed, f=0.027unknown var-GS19700-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM
MASP2 D105Ginsufficiently evaluated pathogenicunknown
MASP2 D120Ginsufficiently evaluated not reviewed, f=0.020unknown CGI sample GS01173-DNA_G02 from PGP sample 67180598
var-GS07357-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS06994-1100-36-ASM
CGI sample GS01173-DNA_A07 from PGP sample 96240009
MASP2 P126Linsufficiently evaluated none, f=0.039unknown var-GS18501-1100-36-ASM
var-GS19704-1100-36-ASM
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19129-1100-36-ASM
MASP2 C156Yinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_D02 from PGP sample 27316983
MASP2 H157Rinsufficiently evaluated not reviewed, f=0.007unknown var-GS18502-1100-36-ASM
MASP2 T294Minsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_F02 from PGP sample 40767107
MASP2 D371Yinsufficiently evaluated none, f=0.623unknown CGI sample GS00253-DNA_E01_200_37 (hom)
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 (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 (hom)
CGI sample GS01669-DNA_C05 from PGP sample 42408046 (hom)
CGI sample GS01173-DNA_F02 from PGP sample 70008981 (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
var-GS07357-1100-36-ASM
CGI sample GS000005532
hu232307 build 36 substitution variants (hom)
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 GS01175-DNA_A04 from PGP sample 13272228 (hom)
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-GS18555-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
var-GS19648-1100-36-ASM (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983 (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
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
CGI sample GS00253-DNA_D01_200_37
CGI sample GS00253-DNA_C01_200_37 (hom)
var-GS18526-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS18947-1100-36-ASM
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
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-GS19669-1100-36-ASM (hom)
var-GS20509-1100-36-ASM (hom)
var-GS18940-1100-36-ASM
var-GS06985-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
MASP2 V377Ainsufficiently evaluated none, f=0.059unknown hu34D5B9 exome
var-GS19020-1100-36-ASM
CGI sample GS00253-DNA_G01_200_37
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS18555-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS00253-DNA_D01_200_37
var-GS18526-1100-36-ASM
var-GS18947-1100-36-ASM
var-GS18940-1100-36-ASM
var-GS18956-1100-36-ASM (hom)
var-GS18517-1100-36-ASM
MASP2 D415Ninsufficiently evaluated not reviewed, f=0.006unknown var-GS19017-1100-36-ASM
MASP2 R439Hinsufficiently evaluated none, f=0.033unknown

(11 web hits)

var-GS19704-1100-36-ASM
CGI sample GS01173-DNA_D06 from PGP sample 69488604
MASP2 C552Rinsufficiently evaluated not reviewedunknown
MASP2 Q577Hinsufficiently evaluated not reviewed, f=0.000unknown var-GS18942-1100-36-ASM
var-GS18558-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034
var-GS18947-1100-36-ASM
MASP2 T613Iinsufficiently evaluated noneunknown
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Total results: 16

Gene search

"GENE" or "GENE A123C":

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