GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
ATP6V1B1 M1Tinsufficiently evaluated none, f=0.413unknown

(1 web hit)

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 GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome
hu3215A7 build 36 substitution variants
CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom)
CGI sample GS000005532
CGI sample GS01669-DNA_B03 from PGP sample 14427241
var-GS19704-1100-36-ASM
var-GS10851-1100-36-ASM (hom)
CGI sample GS01173-DNA_D06 from PGP sample 69488604
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS00253-DNA_F01_200_37
CGI sample GS01175-DNA_B01 from PGP sample 86206034
var-GS19129-1100-36-ASM
var-GS06994-1100-36-ASM
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01173-DNA_B02 from PGP sample 94378523
var-GS19669-1100-36-ASM
ATP6V1B1 G14Sinsufficiently evaluated not reviewedunknown
ATP6V1B1 T30Iinsufficiently evaluated none, f=0.159unknown

(1 web hit)

CGI sample GS00253-DNA_E01_200_37
CGI sample GS01669-DNA_F02 from PGP sample 40767107
hu34D5B9 exome
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS18942-1100-36-ASM
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS18558-1100-36-ASM
var-GS19735-1100-36-ASM
hu232307 build 36 substitution variants
var-GS19701-1100-36-ASM
var-GS21767-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37
var-GS19834-1100-36-ASM
var-GS20502-1100-36-ASM
var-GS19670-1100-36-ASM (hom)
CGI sample GS00253-DNA_A02_200_37
CGI sample GS00253-DNA_H01_200_37 (hom)
var-GS19669-1100-36-ASM
var-GS18940-1100-36-ASM
ATP6V1B1 R31Xinsufficiently evaluated pathogenicunknown

(10 web hits)

ATP6V1B1 G78Rinsufficiently evaluated pathogenicunknown

(1 web hit)

ATP6V1B1 L81Pinsufficiently evaluated pathogenicunknown

(11 web hits)

ATP6V1B1 E161Kinsufficiently evaluated not reviewed, f=0.022unknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
var-GS07357-1100-36-ASM
ATP6V1B1 I266Finsufficiently evaluated noneunknown
ATP6V1B1 A272Vinsufficiently evaluated none, f=0.002unknown CGI sample GS01173-DNA_D06 from PGP sample 69488604
CGI sample GS00253-DNA_A02_200_37
ATP6V1B1 E309Ginsufficiently evaluated not reviewed, f=0.008unknown var-GS18947-1100-36-ASM
ATP6V1B1 T343Ainsufficiently evaluated not reviewedunknown
ATP6V1B1 Y498Cinsufficiently evaluated not reviewed, f=0.000unknown var-GS19670-1100-36-ASM
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Total results: 12

Gene search

"GENE" or "GENE A123C":

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