GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
MPV17 G24Winsufficiently evaluated pathogenicunknown

(7 web hits)

MPV17 R50Qinsufficiently evaluated pathogenicunknown

(42 web hits)

MPV17 R50Winsufficiently evaluated pathogenicunknown

(12 web hits)

MPV17 W120Xinsufficiently evaluated pathogenicunknown

(4 web hits)

MPV17 R125Winsufficiently evaluated not reviewed, f=0.000unknown

(2 web hits)

MPV17 H152Linsufficiently evaluated not reviewed, f=0.016unknown var-GS20502-1100-36-ASM
var-GS19026-1100-36-ASM
MPV17 N166Kinsufficiently evaluated pathogenicunknown

(8 web hits)

MPV17L E191Kinsufficiently evaluated not reviewed, f=0.008unknown CGI sample GS00253-DNA_B02_200_37
MPV17L2 M72Vinsufficiently evaluated none, f=0.247unknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01173-DNA_C02 from PGP sample 10366372
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
hu3215A7 build 36 substitution variants
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS18501-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom)
var-GS07357-1100-36-ASM
CGI sample GS000005532 (hom)
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS19704-1100-36-ASM
var-GS10851-1100-36-ASM (hom)
CGI sample GS00253-DNA_A01_200_37
var-GS19834-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS00253-DNA_B01_200_37
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
CGI sample GS00253-DNA_C01_200_37 (hom)
hu728FFF build 36 substitution variants (hom)
var-GS18947-1100-36-ASM
var-GS18505-1100-36-ASM
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
CGI sample GS01173-DNA_B02 from PGP sample 94378523 (hom)
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS19026-1100-36-ASM
var-GS20509-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
Total results: 9

Gene search

"GENE" or "GENE A123C":

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