GET-Evidence: Search
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Variant
Impact
Inheritance pattern
Summary
Genomes
CFC1 W78R
insufficiently evaluated none, f=0.966
unknown
(2 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)
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)
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-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-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-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
(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)
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)
var-GS19240-1100-36-ASM
(hom)
CGI sample GS00253-DNA_C01_200_37
(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
(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)
CGI sample GS01175-DNA_D03 from PGP sample 27486199
(hom)
CFC1 R112C
insufficiently evaluated pathogenic
unknown
(9 web hits)
CFC1B W78R
insufficiently evaluated none
unknown
Total results: 3
Gene search
"GENE" or "GENE A123C":
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